| keyword | description |
|---|---|
| HP:0010704 | 1-2 finger syndactyly |
| HP:0005767 | 1-2 toe complete cutaneous syndactyly |
| HP:0010711 | 1-2 toe syndactyly |
| HP:0010706 | 1-3 finger syndactyly |
| HP:0001459 | 1-3 toe syndactyly |
| HP:0010707 | 1-4 finger syndactyly |
| HP:0010712 | 1-4 toe syndactyly |
| HP:0006088 | 1-5 finger complete cutaneous syndactyly |
| HP:0010708 | 1-5 finger syndactyly |
| HP:0010713 | 1-5 toe syndactyly |
| HP:0030927 | 1-minute APGAR score of 0 |
| HP:0030928 | 1-minute APGAR score of 1 |
| HP:0030929 | 1-minute APGAR score of 2 |
| HP:0030930 | 1-minute APGAR score of 3 |
| HP:0030931 | 1-minute APGAR score of 4 |
| HP:0030932 | 1-minute APGAR score of 5 |
| HP:0030933 | 1-minute APGAR score of 6 |
| HP:0030300 | 10 pairs of ribs |
| HP:0000878 | 11 pairs of ribs |
| HP:0030306 | 11 thoracic vertebrae |
| HP:0001233 | 2-3 finger syndactyly |
| HP:0005709 | 2-3 toe cutaneous syndactyly |
| HP:0004691 | 2-3 toe syndactyly |
| HP:0010709 | 2-4 finger syndactyly |
| HP:0005768 | 2-4 toe cutaneous syndactyly |
| HP:0010714 | 2-4 toe syndactyly |
| HP:0010692 | 2-5 finger syndactyly |
| HP:0010715 | 2-5 toe syndactyly |
| HP:0008083 | 2nd-5th toe middle phalangeal hypoplasia |
| HP:0011939 | 3-4 finger cutaneous syndactyly |
| HP:0006097 | 3-4 finger syndactyly |
| HP:0009779 | 3-4 toe syndactyly |
| HP:0010710 | 3-5 finger syndactyly |
| HP:0010716 | 3-5 toe syndactyly |
| HP:0008160 | 3-hydroxydicarboxylic aciduria |
| HP:0003535 | 3-Methylglutaconic aciduria |
| HP:0003344 | 3-Methylglutaric aciduria |
| HP:0010705 | 4-5 finger syndactyly |
| HP:0004692 | 4-5 toe syndactyly |
| HP:0003607 | 4-Hydroxyphenylacetic aciduria |
| HP:0003161 | 4-Hydroxyphenylpyruvic aciduria |
| HP:0030920 | 5-minute APGAR score of 0 |
| HP:0030921 | 5-minute APGAR score of 1 |
| HP:0030922 | 5-minute APGAR score of 2 |
| HP:0030923 | 5-minute APGAR score of 3 |
| HP:0030924 | 5-minute APGAR score of 4 |
| HP:0030925 | 5-minute APGAR score of 5 |
| HP:0030926 | 5-minute APGAR score of 6 |
| HP:0040142 | 5-oxoprolinase deficiency |
| HP:0001501 | 6 metacarpals |
| HP:0012651 | Abasia |
| HP:0004953 | Abdominal aortic aneurysm |
| HP:0025181 | Abdominal aseptic abscess |
| HP:0011848 | Abdominal colic |
| HP:0003270 | Abdominal distention |
| HP:0011582 | Abdominal ectopia cordis |
| HP:0012743 | Abdominal obesity |
| HP:0002027 | Abdominal pain |
| HP:0003363 | Abdominal situs inversus |
| HP:0011458 | Abdominal symptom |
| HP:0010866 | Abdominal wall defect |
| HP:0009023 | Abdominal wall muscle weakness |
| HP:0011349 | Abducens palsy |
| HP:0007384 | Aberrant melanosome maturation |
| HP:0008181 | Abetalipoproteinemia |
| HP:0011224 | Ablepharon |
| HP:0011922 | Abnormal activity of mitochondrial respiratory chain |
| HP:0030684 | Abnormal adiponectin level |
| HP:0006919 | Abnormal aggressive, impulsive or violent behavior |
| HP:0012116 | Abnormal albumin level |
| HP:0012400 | Abnormal aldolase level |
| HP:0012527 | Abnormal alpha granule content |
| HP:0012525 | Abnormal alpha granule distribution |
| HP:0012483 | Abnormal alpha granules |
| HP:0030333 | Abnormal alpha-beta T cell morphology |
| HP:0030478 | Abnormal amplitude of dark-adapted bright flash electroretinogram |
| HP:0030476 | Abnormal amplitude of dark-adapted dim flash electroretinogram |
| HP:0030462 | Abnormal amplitude of flash visual evoked potentials |
| HP:0030479 | Abnormal amplitude of light-adapted flicker electroretinogram |
| HP:0030481 | Abnormal amplitude of light-adapted single flash electroretinogram |
| HP:0030485 | Abnormal amplitude of pattern electroretinogram |
| HP:0030457 | Abnormal amplitude of pattern onset/offset visual evoked potentials |
| HP:0000650 | Abnormal amplitude of pattern reversal visual evoked potentials |
| HP:0030590 | Abnormal Amsler grid test |
| HP:0004307 | Abnormal anatomic location of the heart |
| HP:0006802 | Abnormal anterior horn cell morphology |
| HP:0025201 | Abnormal apolipoprotein level |
| HP:0011844 | Abnormal appendicular skeleton morphology |
| HP:0012769 | Abnormal arm span |
| HP:0025323 | Abnormal arterial physiology |
| HP:0011535 | Abnormal atrial arrangement |
| HP:0005150 | Abnormal atrioventricular conduction |
| HP:0011546 | Abnormal atrioventricular connection |
| HP:0006958 | Abnormal auditory evoked potentials |
| HP:0030594 | Abnormal automated kinetic perimetry test |
| HP:0012331 | Abnormal autonomic nervous system morphology |
| HP:0012332 | Abnormal autonomic nervous system physiology |
| HP:0009121 | Abnormal axial skeleton morphology |
| HP:0012258 | Abnormal axonemal organization of respiratory motile cilia |
| HP:0012751 | Abnormal basal ganglia MRI signal intensity |
| HP:0030534 | Abnormal best corrected visual acuity test |
| HP:0012440 | Abnormal biliary tract morphology |
| HP:0012439 | Abnormal biliary tract physiology |
| HP:0001892 | Abnormal bleeding |
| HP:0008066 | Abnormal blistering of the skin |
| HP:0012415 | Abnormal blood gas level |
| HP:0011862 | Abnormal bone collagen fibril morphology |
| HP:0011849 | Abnormal bone ossification |
| HP:0003330 | Abnormal bone structure |
| HP:0030142 | Abnormal bowel sounds |
| HP:0025047 | Abnormal brain choline level by MRS |
| HP:0012709 | Abnormal brain choline/creatine ratio by MRS |
| HP:0025049 | Abnormal brain creatine level by MRS |
| HP:0012658 | Abnormal brain FDG positron emission tomography |
| HP:0025045 | Abnormal brain lactate level by MRS |
| HP:0025052 | Abnormal brain N-acetyl aspartate level by MRS |
| HP:0012657 | Abnormal brain positron emission tomography |
| HP:0012747 | Abnormal brainstem MRI signal intensity |
| HP:0011587 | Abnormal branching pattern of the aortic arch |
| HP:0030829 | Abnormal breath sound |
| HP:0030794 | Abnormal C-peptide level |
| HP:0009164 | Abnormal calcification of the carpal bones |
| HP:0025016 | Abnormal capillary morphology |
| HP:0025018 | Abnormal capillary physiology |
| HP:0030872 | Abnormal cardiac ventricular function |
| HP:0008271 | Abnormal cartilage collagen |
| HP:0008178 | Abnormal cartilage matrix |
| HP:0002763 | Abnormal cartilage morphology |
| HP:0030335 | Abnormal CD4-positive, CD25-positive, alpha-beta regulatory T cell count |
| HP:0030334 | Abnormal CD4-positive, CD25-positive, alpha-beta regulatory T cell morphology |
| HP:0025354 | Abnormal cellular phenotype |
| HP:0012260 | Abnormal central microtubular pair morphology of respiratory motile cilia |
| HP:0030488 | Abnormal central response of multifocal electroretinogram |
| HP:0030790 | Abnormal cerumen color |
| HP:0005905 | Abnormal cervical curvature |
| HP:0005788 | Abnormal cervical myelogram |
| HP:0003464 | Abnormal cholesterol homeostasis |
| HP:0012262 | Abnormal ciliary motility |
| HP:0040085 | Abnormal circulating aldosterone |
| HP:0030347 | Abnormal circulating androgen level |
| HP:0012100 | Abnormal circulating creatinine level |
| HP:0025132 | Abnormal circulating estrogen level |
| HP:0030346 | Abnormal circulating follicle-stimulating hormone level |
| HP:0030338 | Abnormal circulating gonadotropin level |
| HP:0040215 | Abnormal circulating insulin level |
| HP:0030345 | Abnormal circulating luteinizing hormone level |
| HP:0040084 | Abnormal circulating renin |
| HP:0030386 | Abnormal class-switched memory B cell count |
| HP:0011400 | Abnormal CNS myelination |
| HP:0040077 | Abnormal concentration of calcium in blood |
| HP:0030589 | Abnormal confrontational visual field test |
| HP:0000549 | Abnormal conjugate eye movement |
| HP:0011545 | Abnormal connection of the cardiac segments |
| HP:0040202 | Abnormal consumption behavior |
| HP:0011686 | Abnormal coronary artery course |
| HP:0003103 | Abnormal cortical bone morphology |
| HP:0002536 | Abnormal cortical gyration |
| HP:0030860 | Abnormal CSF amyloid level |
| HP:0040207 | Abnormal CSF biopterin level |
| HP:0012654 | Abnormal CSF dopamine level |
| HP:0030085 | Abnormal CSF lactate level |
| HP:0040203 | Abnormal CSF neopterin level |
| HP:0025082 | Abnormal cutaneous elastic fiber morphology |
| HP:0030470 | Abnormal dark-adapted bright flash electroretinogram |
| HP:0030471 | Abnormal dark-adapted dim flash electroretinogram |
| HP:0030469 | Abnormal dark-adapted electroretinogram |
| HP:0002963 | Abnormal delayed hypersensitivity skin test |
| HP:0001787 | Abnormal delivery |
| HP:0012529 | Abnormal dense granule content |
| HP:0012484 | Abnormal dense granules |
| HP:0012491 | Abnormal dense tubular system |
| HP:0007477 | Abnormal dermatoglyphics |
| HP:0000940 | Abnormal diaphysis morphology |
| HP:0011600 | Abnormal direction of ventricular apex |
| HP:0007815 | Abnormal distribution of retinal arterioles and venules |
| HP:0045049 | Abnormal DLCO |
| HP:0030082 | Abnormal drinking behavior |
| HP:0100738 | Abnormal eating behavior |
| HP:0003116 | Abnormal echocardiogram |
| HP:0012875 | Abnormal ejaculation |
| HP:0003115 | Abnormal EKG |
| HP:0010647 | Abnormal elasticity of skin |
| HP:0030454 | Abnormal electrooculogram |
| HP:0011702 | Abnormal electrophysiology of sinoatrial node origin |
| HP:0000512 | Abnormal electroretinogram |
| HP:0100851 | Abnormal emotion/affect behavior |
| HP:0003336 | Abnormal enchondral ossification |
| HP:0012338 | Abnormal energy expenditure |
| HP:0012379 | Abnormal enzyme/coenzyme activity |
| HP:0010656 | Abnormal epiphyseal ossification |
| HP:0030272 | Abnormal erythrocyte enzyme activity |
| HP:0025021 | Abnormal erythrocyte sedimentation rate |
| HP:0025065 | Abnormal erythrocyte volume |
| HP:0030599 | Abnormal Estermann grid perimetry test |
| HP:0000811 | Abnormal external genitalia |
| HP:0012372 | Abnormal eye morphology |
| HP:0012373 | Abnormal eye physiology |
| HP:0005346 | Abnormal facial expression |
| HP:0001999 | Abnormal facial shape |
| HP:0005259 | Abnormal facility in opposing the shoulders |
| HP:0100852 | Abnormal fear/anxiety-related behavior |
| HP:0030012 | Abnormal female reproductive system physiology |
| HP:0006143 | Abnormal finger flexion creases |
| HP:0007928 | Abnormal flash visual evoked potentials |
| HP:0010675 | Abnormal foot bone ossification |
| HP:0003312 | Abnormal form of the vertebral bodies |
| HP:0030613 | Abnormal foveal morphology on macular OCT |
| HP:0030622 | Abnormal foveal pit on macular OCT |
| HP:0012359 | Abnormal fucosylation of O-linked protein glycosylation |
| HP:0012352 | Abnormal fucosylation of protein N-linked glycosylation |
| HP:0030466 | Abnormal full-field electroretinogram |
| HP:0030602 | Abnormal fundus autofluorescence imaging |
| HP:0030604 | Abnormal fundus fluorescein angiography |
| HP:0012437 | Abnormal gallbladder morphology |
| HP:0012438 | Abnormal gallbladder physiology |
| HP:0030895 | Abnormal gastrointestinal motility |
| HP:0030896 | Abnormal gastrointestinal transit time |
| HP:0012293 | Abnormal genital pigmentation |
| HP:0012243 | Abnormal genital system morphology |
| HP:0012862 | Abnormal germ cell morphology |
| HP:0025006 | Abnormal glomerular capillary morphology |
| HP:0012212 | Abnormal glomerular filtration rate |
| HP:0030687 | Abnormal glucagon level |
| HP:0011014 | Abnormal glucose homeostasis |
| HP:0001952 | Abnormal glucose tolerance |
| HP:0012345 | Abnormal glycosylation |
| HP:0003328 | Abnormal hair laboratory examination |
| HP:0010720 | Abnormal hair pattern |
| HP:0011362 | Abnormal hair quantity |
| HP:0010721 | Abnormal hair whorl |
| HP:0010660 | Abnormal hand bone ossification |
| HP:0005922 | Abnormal hand morphology |
| HP:0030587 | Abnormal Hardy-Rand-Rittler plate test |
| HP:0002457 | Abnormal head movements |
| HP:0001627 | Abnormal heart morphology |
| HP:0011902 | Abnormal hemoglobin |
| HP:0040134 | Abnormal hepatic iron concentration |
| HP:0012337 | Abnormal homeostasis |
| HP:0012791 | Abnormal humeral ossification |
| HP:0030598 | Abnormal Humphrey SITA 10-2 perimetry test |
| HP:0030597 | Abnormal Humphrey SITA 24-2 perimetry test |
| HP:0030596 | Abnormal Humphrey SITA 30-2 perimetry test |
| HP:0012286 | Abnormal hypothalamus morphology |
| HP:0012285 | Abnormal hypothalamus physiology |
| HP:0030376 | Abnormal immature B cell count |
| HP:0010701 | Abnormal immunoglobulin level |
| HP:0030605 | Abnormal indocyanine green angiography |
| HP:0012647 | Abnormal inflammatory response |
| HP:3000002 | Abnormal inner ear epithelium morphology |
| HP:0011418 | Abnormal insertion of umbilical cord |
| HP:0040214 | Abnormal insulin level |
| HP:0040157 | Abnormal intermamillary distance |
| HP:0000812 | Abnormal internal genitalia |
| HP:0012790 | Abnormal intramembranous ossification |
| HP:0012632 | Abnormal intraocular pressure |
| HP:0012547 | Abnormal involuntary eye movements |
| HP:0008034 | Abnormal iris pigmentation |
| HP:0007905 | Abnormal iris vasculature |
| HP:0008306 | Abnormal iron deposition in mitochondria |
| HP:0030586 | Abnormal Ishihara plate test |
| HP:0003160 | Abnormal isoelectric focusing of serum transferrin |
| HP:0030791 | Abnormal jaw morphology |
| HP:0001367 | Abnormal joint morphology |
| HP:0030847 | Abnormal jugular venous pressure |
| HP:0030591 | Abnormal kinetic perimetry test |
| HP:0045040 | Abnormal lactate dehydrogenase activity |
| HP:0025090 | Abnormal large intestinal mucosa morphology |
| HP:0012700 | Abnormal large intestine physiology |
| HP:0030936 | Abnormal layering of muscularis propria |
| HP:0200011 | Abnormal length of corpus callosum |
| HP:0011893 | Abnormal leukocyte count |
| HP:0040210 | Abnormal level of biopterin |
| HP:0040206 | Abnormal level of neopterin |
| HP:0040176 | Abnormal level of phospholipids |
| HP:0040177 | Abnormal level of platelet-activating factor |
| HP:0045056 | Abnormal levels of alpha-fetoprotein |
| HP:0040081 | Abnormal levels of creatine kinase in blood |
| HP:0008323 | Abnormal light- and dark-adapted electroretinogram |
| HP:0008275 | Abnormal light-adapted electroretinogram |
| HP:0030473 | Abnormal light-adapted flicker electroretinogram |
| HP:0030472 | Abnormal light-adapted single flash electroretinogram |
| HP:0200148 | Abnormal liver function tests during pregnancy |
| HP:0100752 | Abnormal liver lobulation |
| HP:0030146 | Abnormal liver parenchyma morphology |
| HP:0100542 | Abnormal localization of kidney |
| HP:0000357 | Abnormal location of ears |
| HP:0002366 | Abnormal lower motor neuron morphology |
| HP:0012898 | Abnormal lower-limb motor evoked potentials |
| HP:0002101 | Abnormal lung lobation |
| HP:0030886 | Abnormal lymphocyte apoptosis |
| HP:0040088 | Abnormal lymphocyte count |
| HP:0030326 | Abnormal macrophage count |
| HP:0012863 | Abnormal male germ cell morphology |
| HP:0012874 | Abnormal male reproductive system physiology |
| HP:0012355 | Abnormal mannosylation of N-linked protein glycosylation |
| HP:0030593 | Abnormal manual kinetic perimetry test |
| HP:0030383 | Abnormal marginal zone B cell count |
| HP:0011436 | Abnormal maternal serum screening |
| HP:0030373 | Abnormal memory B cell count |
| HP:0012705 | Abnormal metabolic brain imaging by MRS |
| HP:0005916 | Abnormal metacarpal morphology |
| HP:0005089 | Abnormal metaphyseal trabeculation |
| HP:0003562 | Abnormal metaphyseal vascular invasion |
| HP:0008371 | Abnormal metatarsal ossification |
| HP:0004454 | Abnormal middle ear reflexes |
| HP:0011489 | Abnormal migration of corneal endothelium |
| HP:0008316 | Abnormal mitochondria in muscle tissue |
| HP:0008322 | Abnormal mitochondrial morphology |
| HP:0012102 | Abnormal mitochondrial number |
| HP:0012087 | Abnormal mitochondrial shape |
| HP:0012310 | Abnormal monocyte count |
| HP:0040066 | Abnormal morphology of bones of the lower limbs |
| HP:0040065 | Abnormal morphology of bones of the upper limbs |
| HP:0025034 | Abnormal morphology of erythroid progenitor cell |
| HP:0040073 | Abnormal morphology of forearm bone |
| HP:0030681 | Abnormal morphology of myocardial trabeculae |
| HP:0025100 | Abnormal morphology of the hippocampus |
| HP:0007343 | Abnormal morphology of the limbic system |
| HP:0030669 | Abnormal morphology of the ocular adnexa |
| HP:0045009 | Abnormal morphology of the radius |
| HP:0040071 | Abnormal morphology of ulna |
| HP:0012896 | Abnormal motor evoked potentials |
| HP:0040131 | Abnormal motor nerve conduction velocity |
| HP:0002450 | Abnormal motor neuron morphology |
| HP:0030468 | Abnormal multifocal electroretinogram |
| HP:0030112 | Abnormal muscle fiber alpha dystroglycan |
| HP:0030100 | Abnormal muscle fiber alpha sarcoglycan |
| HP:0030103 | Abnormal muscle fiber beta sarcoglycan |
| HP:0030119 | Abnormal muscle fiber calpain-3 |
| HP:0030105 | Abnormal muscle fiber delta sarcoglycan |
| HP:0030224 | Abnormal muscle fiber desmin |
| HP:0030113 | Abnormal muscle fiber dysferlin |
| HP:0030096 | Abnormal muscle fiber dystrophin expression |
| HP:0030116 | Abnormal muscle fiber emerin |
| HP:0030104 | Abnormal muscle fiber gamma sarcoglycan |
| HP:0030123 | Abnormal muscle fiber lamin A/C |
| HP:0030093 | Abnormal muscle fiber laminin beta 1 |
| HP:0030090 | Abnormal muscle fiber merosin expression |
| HP:0030226 | Abnormal muscle fiber myotilin |
| HP:0030089 | Abnormal muscle fiber protein expression |
| HP:0030228 | Abnormal muscle fiber valosin-containing protein |
| HP:0012269 | Abnormal muscle glycogen content |
| HP:0003808 | Abnormal muscle tone |
| HP:0012447 | Abnormal myelination |
| HP:0030807 | Abnormal nail growth |
| HP:0030370 | Abnormal naive B cell count |
| HP:0012808 | Abnormal nasal base |
| HP:0005105 | Abnormal nasal morphology |
| HP:0012177 | Abnormal natural killer cell physiology |
| HP:0040129 | Abnormal nerve conduction velocity |
| HP:0001311 | Abnormal nervous system electrophysiology |
| HP:0012757 | Abnormal neuron morphology |
| HP:0011991 | Abnormal neutrophil cell number |
| HP:0012528 | Abnormal number of alpha granules |
| HP:0012530 | Abnormal number of dense granules |
| HP:0012131 | Abnormal number of erythroid precursors |
| HP:0012137 | Abnormal number of granulocyte precursors |
| HP:0010813 | Abnormal number of hair whorls |
| HP:0011064 | Abnormal number of incisors |
| HP:0011044 | Abnormal number of permanent teeth |
| HP:0006483 | Abnormal number of teeth |
| HP:0040112 | Abnormal number of tubercles |
| HP:0030304 | Abnormal number of vertebrae |
| HP:0030617 | Abnormal OCT-measured foveal thickness |
| HP:0030606 | Abnormal OCT-measured macular thickness |
| HP:0040231 | Abnormal onset of bleeding |
| HP:0030603 | Abnormal optical coherence tomography |
| HP:0004924 | Abnormal oral glucose tolerance |
| HP:0011636 | Abnormal origin of the coronary arteries |
| HP:0009107 | Abnormal ossification involving the femoral head and neck |
| HP:0009105 | Abnormal ossification of the pubic bone |
| HP:0025370 | Abnormal ossification of the sacrum |
| HP:0045003 | Abnormal ossification of the scaphoid |
| HP:0045001 | Abnormal ossification of the trapezium |
| HP:0045004 | Abnormal ossification of the trapezoid bone |
| HP:0030327 | Abnormal osteoclast count |
| HP:0030487 | Abnormal P50/N95 ratio of pattern electroretinogram |
| HP:0007608 | Abnormal palmar dermal ridges |
| HP:0001018 | Abnormal palmar dermatoglyphics |
| HP:0012094 | Abnormal pancreas size |
| HP:0030489 | Abnormal paracentral response of multifocal electroretinogram |
| HP:0030467 | Abnormal pattern electroretinogram |
| HP:0002793 | Abnormal pattern of respiration |
| HP:0040163 | Abnormal pelvis bone morphology |
| HP:0009106 | Abnormal pelvis bone ossification |
| HP:0030313 | Abnormal periosteum morphology |
| HP:0030179 | Abnormal peripheral action potential amplitude |
| HP:0003130 | Abnormal peripheral myelination |
| HP:0000759 | Abnormal peripheral nervous system morphology |
| HP:0030191 | Abnormal peripheral nervous system synaptic transmission |
| HP:0030914 | Abnormal peristalsis |
| HP:0100669 | Abnormal pigmentation of the oral mucosa |
| HP:0012689 | Abnormal pineal melatonin secretion |
| HP:0012684 | Abnormal pineal volume |
| HP:0030535 | Abnormal pinhole visual acuity test |
| HP:0012767 | Abnormal placental size |
| HP:0010506 | Abnormal plantar dermatoglyphics |
| HP:0030402 | Abnormal platelet aggregation |
| HP:0030399 | Abnormal platelet alpha granule secretion |
| HP:0030398 | Abnormal platelet ATP dense granule secretion |
| HP:0011873 | Abnormal platelet count |
| HP:0030401 | Abnormal platelet dense granule ATP/ADP ratio |
| HP:0030397 | Abnormal platelet dense granule secretion |
| HP:0011869 | Abnormal platelet function |
| HP:0030396 | Abnormal platelet granule secretion |
| HP:0011883 | Abnormal platelet granules |
| HP:0030400 | Abnormal platelet lysosome secretion |
| HP:0011878 | Abnormal platelet membrane protein expression |
| HP:0011875 | Abnormal platelet morphology |
| HP:0012524 | Abnormal platelet shape |
| HP:0011876 | Abnormal platelet volume |
| HP:0010814 | Abnormal position of hair whorl |
| HP:0030601 | Abnormal posterior segment imaging |
| HP:0002533 | Abnormal posturing |
| HP:0030133 | Abnormal presence of ultra-large von Willebrand factor multimers |
| HP:0025035 | Abnormal proerythroblast morphology |
| HP:0040086 | Abnormal prolactin level |
| HP:0012346 | Abnormal protein glycosylation |
| HP:0012347 | Abnormal protein N-linked glycosylation |
| HP:0012358 | Abnormal protein O-linked glycosylation |
| HP:0006529 | Abnormal pulmonary lymphatics |
| HP:0030850 | Abnormal pulse pressure |
| HP:0025309 | Abnormal pupil shape |
| HP:0007686 | Abnormal pupillary function |
| HP:0007695 | Abnormal pupillary light reflex |
| HP:0007256 | Abnormal pyramidal signs |
| HP:0025074 | Abnormal QRS complex |
| HP:0025076 | Abnormal QRS voltage |
| HP:0002494 | Abnormal rapid eye movement sleep |
| HP:0005932 | Abnormal renal corticomedullary differentiation |
| HP:0012210 | Abnormal renal morphology |
| HP:0012211 | Abnormal renal physiology |
| HP:0012253 | Abnormal respiratory epithelium morphology |
| HP:0005938 | Abnormal respiratory motile cilium morphology |
| HP:0012261 | Abnormal respiratory motile cilium physiology |
| HP:0012252 | Abnormal respiratory system morphology |
| HP:0030893 | Abnormal response to short acting pulmonary vasodilator |
| HP:0030612 | Abnormal retinal morphology on macular OCT |
| HP:0012306 | Abnormal rib ossification |
| HP:0008468 | Abnormal sacral segmentation |
| HP:0012856 | Abnormal scrotal rugation |
| HP:0040132 | Abnormal sensory nerve conduction velocity |
| HP:0040126 | Abnormal serum cobalamin level |
| HP:0025133 | Abnormal serum estradiol |
| HP:0025135 | Abnormal serum estriol |
| HP:0025138 | Abnormal serum estrone |
| HP:0040133 | Abnormal serum ferritin |
| HP:0030352 | Abnormal serum insulin-like growth factor 1 level |
| HP:0030354 | Abnormal serum interferon level |
| HP:0030355 | Abnormal serum interferon-gamma level |
| HP:0030782 | Abnormal serum interleukin level |
| HP:0040130 | Abnormal serum iron |
| HP:0030087 | Abnormal serum testosterone level |
| HP:0012244 | Abnormal sex determination |
| HP:0011218 | Abnormal shape of the frontal region |
| HP:0011217 | Abnormal shape of the occiput |
| HP:0200005 | Abnormal shape of the palpebral fissure |
| HP:0045008 | Abnormal shape of the radius |
| HP:0012349 | Abnormal sialylation of N-linked protein glycosylation |
| HP:0012362 | Abnormal sialylation of O-linked protein glycosylation |
| HP:0040257 | Abnormal size of nasopharyngeal adenoids |
| HP:0012504 | Abnormal size of pituitary gland |
| HP:0040252 | Abnormal size of the clitoris |
| HP:0200007 | Abnormal size of the palpebral fissures |
| HP:0040220 | Abnormal size the dental root |
| HP:0025129 | Abnormal small intestinal mucosa morphology |
| HP:0012433 | Abnormal social behavior |
| HP:0040159 | Abnormal spaced incisors |
| HP:0011534 | Abnormal spatial orientation of the cardiac segments |
| HP:0001963 | Abnormal speech discrimination |
| HP:0012864 | Abnormal sperm morphology |
| HP:0012206 | Abnormal sperm motility |
| HP:0008669 | Abnormal spermatogenesis |
| HP:0012249 | Abnormal ST segment |
| HP:0030595 | Abnormal static automated perimetry test |
| HP:0030592 | Abnormal static perimetry test |
| HP:0011515 | Abnormal stereopsis |
| HP:0011863 | Abnormal sternal ossification |
| HP:0007552 | Abnormal subcutaneous fat tissue distribution |
| HP:0012333 | Abnormal sudomotor regulation |
| HP:0012485 | Abnormal surface-connected open canalicular system |
| HP:0040128 | Abnormal sweat electrolytes |
| HP:0040127 | Abnormal sweat homeostasis |
| HP:0012535 | Abnormal synaptic transmission |
| HP:0003398 | Abnormal synaptic transmission at the neuromuscular junction |
| HP:0030332 | Abnormal T cell morphology |
| HP:0005135 | Abnormal T-wave |
| HP:0012558 | Abnormal T3/T4 ratio |
| HP:0009132 | Abnormal tarsal bone mineral density |
| HP:0008369 | Abnormal tarsal ossification |
| HP:0025160 | Abnormal temper tantrums |
| HP:0100261 | Abnormal tendon morphology |
| HP:0012696 | Abnormal thalamic MRI signal intensity |
| HP:0012693 | Abnormal thalamic size |
| HP:0001977 | Abnormal thrombosis |
| HP:0030477 | Abnormal timing of dark-adapted bright flash electroretinogram |
| HP:0030475 | Abnormal timing of dark-adapted dim flash electroretinogram |
| HP:0030461 | Abnormal timing of flash visual evoked potentials |
| HP:0030480 | Abnormal timing of light-adapted flicker electroretinogram |
| HP:0030482 | Abnormal timing of light-adapted single flash electroretinogram |
| HP:0030486 | Abnormal timing of pattern electroretinogram |
| HP:0030458 | Abnormal timing of pattern onset/offset visual evoked potentials |
| HP:0030460 | Abnormal timing of pattern reversal visual evoked potentials |
| HP:0030809 | Abnormal tongue morphology |
| HP:0030810 | Abnormal tongue physiology |
| HP:0100671 | Abnormal trabecular bone morphology |
| HP:0040135 | Abnormal transferrin saturation |
| HP:0030379 | Abnormal transitional B cell count |
| HP:0025070 | Abnormal U wave |
| HP:0011403 | Abnormal umbilical cord blood vessels |
| HP:0011884 | Abnormal umbilical stump bleeding |
| HP:0030533 | Abnormal unaided visual acuity test |
| HP:0002127 | Abnormal upper motor neuron morphology |
| HP:0012772 | Abnormal upper to lower segment ratio |
| HP:0012897 | Abnormal upper-limb motor evoked potentials |
| HP:0012073 | Abnormal urinary acylglycine profile |
| HP:0012086 | Abnormal urinary color |
| HP:0045036 | Abnormal urinary copper concentration |
| HP:0012591 | Abnormal urinary electrolyte concentration |
| HP:0012088 | Abnormal urinary odor |
| HP:0012612 | Abnormal urinary sulfate concentration |
| HP:0012401 | Abnormal urine alpha-ketoglutarate concentration |
| HP:0012600 | Abnormal urine chloride concentration |
| HP:0012404 | Abnormal urine citrate concentration |
| HP:0012614 | Abnormal urine cytology |
| HP:0012607 | Abnormal urine magnesium concentration |
| HP:0012590 | Abnormal urine output |
| HP:0012599 | Abnormal urine phosphate concentration |
| HP:0012598 | Abnormal urine potassium concentration |
| HP:0012603 | Abnormal urine sodium concentration |
| HP:0012872 | Abnormal vas deferens morphology |
| HP:0025015 | Abnormal vascular morphology |
| HP:0030163 | Abnormal vascular physiology |
| HP:0006683 | Abnormal ventricular filling |
| HP:0011563 | Abnormal ventriculo-arterial connection |
| HP:0100569 | Abnormal vertebral ossification |
| HP:0030277 | Abnormal vertebral pedicle morphology |
| HP:0005640 | Abnormal vertebral segmentation and fusion |
| HP:0007670 | Abnormal vestibulo-ocular reflex |
| HP:0030800 | Abnormal visual accommodation |
| HP:0030453 | Abnormal visual electrophysiology |
| HP:0030588 | Abnormal visual field test |
| HP:0030131 | Abnormal von Willebrand factor multimer distribution |
| HP:0001194 | Abnormalities of placenta or umbilical cord |
| HP:0005925 | Abnormalities of the diaphyses of the hand |
| HP:0005923 | Abnormalities of the metaphyses of the hand |
| HP:0005114 | Abnormalities of the peripheral arteries |
| HP:0001438 | Abnormality of abdomen morphology |
| HP:0011620 | Abnormality of abdominal situs |
| HP:0012071 | Abnormality of acetylcarnitine metabolism |
| HP:0004360 | Abnormality of acid-base homeostasis |
| HP:0009124 | Abnormality of adipose tissue |
| HP:0011732 | Abnormality of adrenal morphology |
| HP:0011733 | Abnormality of adrenal physiology |
| HP:0010916 | Abnormality of alanine metabolism |
| HP:0004379 | Abnormality of alkaline phosphatase activity |
| HP:0004337 | Abnormality of amino acid metabolism |
| HP:3000023 | Abnormality of angular artery |
| HP:3000031 | Abnormality of anterior ethmoidal artery |
| HP:0010909 | Abnormality of arginine metabolism |
| HP:0004338 | Abnormality of aromatic amino acid family metabolism |
| HP:3000056 | Abnormality of artery of lower lip |
| HP:0010899 | Abnormality of aspartate family amino acid metabolism |
| HP:0010975 | Abnormality of B cell number |
| HP:0005372 | Abnormality of B cell physiology |
| HP:0002846 | Abnormality of B cells |
| HP:0001912 | Abnormality of basophils |
| HP:0011514 | Abnormality of binocular vision |
| HP:0001871 | Abnormality of blood and blood-forming tissues |
| HP:0011028 | Abnormality of blood circulation |
| HP:0011015 | Abnormality of blood glucose concentration |
| HP:0011104 | Abnormality of blood volume homeostasis |
| HP:0000002 | Abnormality of body height |
| HP:0045081 | Abnormality of body mass index |
| HP:0004323 | Abnormality of body weight |
| HP:0005561 | Abnormality of bone marrow cell morphology |
| HP:0012129 | Abnormality of bone marrow stromal cells |
| HP:0004348 | Abnormality of bone mineral density |
| HP:3000030 | Abnormality of bony orbit of skull |
| HP:0012443 | Abnormality of brain morphology |
| HP:0002363 | Abnormality of brainstem morphology |
| HP:0010892 | Abnormality of branched chain family amino acid metabolism |
| HP:3000021 | Abnormality of buccal fat pad |
| HP:3000019 | Abnormality of buccal mucosa |
| HP:3000027 | Abnormality of buccinator muscle |
| HP:0004363 | Abnormality of calcium homeostasis |
| HP:0100530 | Abnormality of calcium-phosphate metabolism |
| HP:0002648 | Abnormality of calvarial morphology |
| HP:0011078 | Abnormality of canine |
| HP:0011013 | Abnormality of carbohydrate metabolism/homeostasis |
| HP:0004354 | Abnormality of carboxylic acid metabolism |
| HP:0005120 | Abnormality of cardiac atrium |
| HP:0001713 | Abnormality of cardiac ventricle |
| HP:0030680 | Abnormality of cardiovascular system morphology |
| HP:0011025 | Abnormality of cardiovascular system physiology |
| HP:0010967 | Abnormality of carnitine metabolism |
| HP:0006257 | Abnormality of carpal bone ossification |
| HP:0410007 | Abnormality of cartilage morphology |
| HP:3000022 | Abnormality of cartilage of external ear |
| HP:3000034 | Abnormality of cartilage of nasal septum |
| HP:0010929 | Abnormality of cation homeostasis |
| HP:0011017 | Abnormality of cell physiology |
| HP:0012130 | Abnormality of cells of the erythroid lineage |
| HP:0012135 | Abnormality of cells of the granulocytic lineage |
| HP:0012140 | Abnormality of cells of the lymphoid lineage |
| HP:0012143 | Abnormality of cells of the megakaryocyte lineage |
| HP:0012144 | Abnormality of cells of the monocyte/macrophage lineage |
| HP:0010987 | Abnormality of cellular immune system |
| HP:0012079 | Abnormality of central motor conduction |
| HP:0011442 | Abnormality of central motor function |
| HP:0030178 | Abnormality of central nervous system electrophysiology |
| HP:3000032 | Abnormality of central retinal artery |
| HP:0011730 | Abnormality of central sensory function |
| HP:0100291 | Abnormality of central somatosensory evoked potentials |
| HP:0009145 | Abnormality of cerebral artery |
| HP:0012480 | Abnormality of cerebral veins |
| HP:0004344 | Abnormality of cerebrosidase metabolism |
| HP:3000035 | Abnormality of cervical plexus |
| HP:0011115 | Abnormality of chemokine secretion |
| HP:0011422 | Abnormality of chloride homeostasis |
| HP:0003107 | Abnormality of cholesterol metabolism |
| HP:0007661 | Abnormality of chorioretinal pigmentation |
| HP:0011019 | Abnormality of chromosome condensation |
| HP:0002916 | Abnormality of chromosome segregation |
| HP:0003220 | Abnormality of chromosome stability |
| HP:3000025 | Abnormality of ciliary ganglion |
| HP:0012518 | Abnormality of circle of Willis |
| HP:0011043 | Abnormality of circulating adrenocorticotropin level |
| HP:0025345 | Abnormality of circulating beta-2-microglobulin level |
| HP:0012099 | Abnormality of circulating catecholamine level |
| HP:0012112 | Abnormality of circulating corticosterone level |
| HP:0011731 | Abnormality of circulating cortisol level |
| HP:0011021 | Abnormality of circulating enzyme level |
| HP:0011898 | Abnormality of circulating fibrinogen |
| HP:0012111 | Abnormality of circulating glucocorticoid level |
| HP:0003117 | Abnormality of circulating hormone level |
| HP:0004361 | Abnormality of circulating leptin level |
| HP:0010876 | Abnormality of circulating protein level |
| HP:0011965 | Abnormality of citrulline metabolism |
| HP:0001928 | Abnormality of coagulation |
| HP:0000375 | Abnormality of cochlea |
| HP:0000551 | Abnormality of color vision |
| HP:0005339 | Abnormality of complement system |
| HP:0003549 | Abnormality of connective tissue |
| HP:0011443 | Abnormality of coordination |
| HP:0010836 | Abnormality of copper homeostasis |
| HP:0011488 | Abnormality of corneal endothelium |
| HP:0011495 | Abnormality of corneal epithelium |
| HP:0040004 | Abnormality of corneal shape |
| HP:0001120 | Abnormality of corneal size |
| HP:0011492 | Abnormality of corneal stroma |
| HP:0011486 | Abnormality of corneal thickness |
| HP:0100623 | Abnormality of corpus cavernosum |
| HP:0410016 | Abnormality of cranial ganglion |
| HP:0011329 | Abnormality of cranial sutures |
| HP:0012113 | Abnormality of creatine metabolism |
| HP:3000038 | Abnormality of cricoid cartilage |
| HP:0010918 | Abnormality of cysteine metabolism |
| HP:0011113 | Abnormality of cytokine secretion |
| HP:0011073 | Abnormality of dental color |
| HP:0000682 | Abnormality of dental enamel |
| HP:0006292 | Abnormality of dental eruption |
| HP:0006482 | Abnormality of dental morphology |
| HP:0011061 | Abnormality of dental structure |
| HP:0010299 | Abnormality of dentin |
| HP:3000028 | Abnormality of depressor anguli oris muscle |
| HP:3000029 | Abnormality of depressor labii inferioris |
| HP:0011125 | Abnormality of dermal melanosomes |
| HP:0011490 | Abnormality of Descemet's membrane |
| HP:0010995 | Abnormality of dicarboxylic acid metabolism |
| HP:0025033 | Abnormality of digestive system morphology |
| HP:0025032 | Abnormality of digestive system physiology |
| HP:0011297 | Abnormality of digit |
| HP:0010927 | Abnormality of divalent inorganic cation homeostasis |
| HP:0003254 | Abnormality of DNA repair |
| HP:3000039 | Abnormality of dorsal nasal artery |
| HP:0100270 | Abnormality of dorsoventral patterning of the limbs |
| HP:0010947 | Abnormality of ductus venosus blood flow |
| HP:0000363 | Abnormality of earlobe |
| HP:0030361 | Abnormality of eicosanoid metabolism |
| HP:0012093 | Abnormality of endocrine pancreas physiology |
| HP:0004362 | Abnormality of enteric ganglion morphology |
| HP:0025028 | Abnormality of enteric nervous system morphology |
| HP:0025029 | Abnormality of enteric neuron morphology |
| HP:0001879 | Abnormality of eosinophils |
| HP:0011124 | Abnormality of epidermal morphology |
| HP:0005930 | Abnormality of epiphysis morphology |
| HP:0001877 | Abnormality of erythrocytes |
| HP:0002031 | Abnormality of esophagus morphology |
| HP:0025270 | Abnormality of esophagus physiology |
| HP:0430005 | Abnormality of ethmoid bone |
| HP:3000040 | Abnormality of ethmoid sinus |
| HP:0012092 | Abnormality of exocrine pancreas physiology |
| HP:3000041 | Abnormality of external carotid artery |
| HP:0430024 | Abnormality of external jugular vein |
| HP:0002071 | Abnormality of extrapyramidal motor function |
| HP:0040174 | Abnormality of extrinsic muscle of tongue |
| HP:0000496 | Abnormality of eye movement |
| HP:0000291 | Abnormality of facial adipose tissue |
| HP:3000024 | Abnormality of facial artery |
| HP:0000301 | Abnormality of facial musculature |
| HP:0011821 | Abnormality of facial skeleton |
| HP:0011799 | Abnormality of facial soft tissue |
| HP:3000043 | Abnormality of facial vein |
| HP:0010966 | Abnormality of fatty-acid anion metabolism |
| HP:0004359 | Abnormality of fatty-acid metabolism |
| HP:0000055 | Abnormality of female external genitalia |
| HP:0000008 | Abnormality of female internal genitalia |
| HP:0006499 | Abnormality of femoral epiphysis |
| HP:0040224 | Abnormality of fibrinolysis |
| HP:0010593 | Abnormality of fibular epiphyses |
| HP:0001167 | Abnormality of finger |
| HP:0011032 | Abnormality of fluid regulation |
| HP:0040087 | Abnormality of folate in blood |
| HP:0012335 | Abnormality of folate metabolism |
| HP:0011328 | Abnormality of fontanelles |
| HP:0025332 | Abnormality of foot cortical bone |
| HP:0040072 | Abnormality of forearm bone |
| HP:0100547 | Abnormality of forebrain morphology |
| HP:0030493 | Abnormality of foveal pigmentation |
| HP:3000044 | Abnormality of frontal process of maxilla |
| HP:0002687 | Abnormality of frontal sinus |
| HP:3000004 | Abnormality of frontalis muscle belly |
| HP:0004342 | Abnormality of galactoside metabolism |
| HP:0410014 | Abnormality of ganglion |
| HP:0410015 | Abnormality of ganglion of peripheral nervous system |
| HP:0004345 | Abnormality of ganglioside metabolism |
| HP:0004296 | Abnormality of gastrointestinal vasculature |
| HP:3000045 | Abnormality of genioglossus muscle |
| HP:3000046 | Abnormality of geniohyoid muscle |
| HP:0100886 | Abnormality of globe location |
| HP:0100887 | Abnormality of globe size |
| HP:3000047 | Abnormality of glossopharyngeal nerve |
| HP:0010902 | Abnormality of glutamine family amino acid metabolism |
| HP:0010903 | Abnormality of glutamine metabolism |
| HP:0010895 | Abnormality of glycine metabolism |
| HP:0010969 | Abnormality of glycolipid metabolism |
| HP:0004366 | Abnormality of glycolysis |
| HP:0004367 | Abnormality of glycoprotein metabolism |
| HP:0004371 | Abnormality of glycosaminoglycan metabolism |
| HP:0003649 | Abnormality of glycoside metabolism |
| HP:0004343 | Abnormality of glycosphingolipid metabolism |
| HP:0001911 | Abnormality of granulocytes |
| HP:3000048 | Abnormality of great auricular nerve |
| HP:3000049 | Abnormality of greater palatine artery |
| HP:0025368 | Abnormality of growth plate morphology |
| HP:0011357 | Abnormality of hair density |
| HP:0040170 | Abnormality of hair growth |
| HP:0011363 | Abnormality of hair growth rate |
| HP:0009887 | Abnormality of hair pigmentation |
| HP:0010719 | Abnormality of hair texture |
| HP:0005926 | Abnormality of hand cortical bone |
| HP:0006256 | Abnormality of hand joint mobility |
| HP:3000036 | Abnormality of head blood vessel |
| HP:0000152 | Abnormality of head or neck |
| HP:0025155 | Abnormality of hepatobiliary system physiology |
| HP:0011446 | Abnormality of higher mental function |
| HP:0011282 | Abnormality of hindbrain morphology |
| HP:0010904 | Abnormality of histidine metabolism |
| HP:0010919 | Abnormality of homocysteine metabolism |
| HP:0005368 | Abnormality of humoral immunity |
| HP:3000051 | Abnormality of hyoglossus muscle |
| HP:3000052 | Abnormality of hyoid bone |
| HP:3000053 | Abnormality of hypopharynx |
| HP:0011111 | Abnormality of immune serum protein physiology |
| HP:0010978 | Abnormality of immune system physiology |
| HP:0011063 | Abnormality of incisor morphology |
| HP:3000054 | Abnormality of inferior alveolar artery |
| HP:3000055 | Abnormality of inferior alveolar nerve |
| HP:0011243 | Abnormality of inferior crus of antihelix |
| HP:3000057 | Abnormality of inferior oblique extraocular muscle |
| HP:3000058 | Abnormality of inferior rectus extraocular muscle |
| HP:3000059 | Abnormality of inferior thyroid vein |
| HP:3000061 | Abnormality of infra-orbital nerve |
| HP:3000060 | Abnormality of infraorbital artery |
| HP:0011116 | Abnormality of interferon secretion |
| HP:0011117 | Abnormality of interleukin secretion |
| HP:3000062 | Abnormality of internal carotid artery |
| HP:3000063 | Abnormality of internal jugular vein |
| HP:0030935 | Abnormality of intestinal smooth muscle morphology |
| HP:0012640 | Abnormality of intracranial pressure |
| HP:3000064 | Abnormality of intrinsic muscle of tongue |
| HP:0003111 | Abnormality of ion homeostasis |
| HP:0011031 | Abnormality of iron homeostasis |
| HP:0010912 | Abnormality of isoleucine metabolism |
| HP:0045037 | Abnormality of jaw muscles |
| HP:0011729 | Abnormality of joint mobility |
| HP:3000042 | Abnormality of jugular vein |
| HP:0000816 | Abnormality of Krebs cycle metabolism |
| HP:3000065 | Abnormality of lacrimal artery |
| HP:3000066 | Abnormality of lacrimal sac |
| HP:3000067 | Abnormality of lateral crico-arytenoid |
| HP:3000068 | Abnormality of lateral pterygoid muscle |
| HP:3000069 | Abnormality of lateral rectus extra-ocular muscle |
| HP:0030047 | Abnormality of lateral ventricle |
| HP:0011526 | Abnormality of lens shape |
| HP:0004357 | Abnormality of leucine metabolism |
| HP:0001881 | Abnormality of leukocytes |
| HP:0030390 | Abnormality of leukotriene metabolism |
| HP:3000070 | Abnormality of levator anguli oris |
| HP:3000071 | Abnormality of levator labii superioris |
| HP:0430020 | Abnormality of levator labii superioris alaeque nasi muscle |
| HP:3000072 | Abnormality of levator palpebrae superioris |
| HP:3000073 | Abnormality of levator veli palatini muscle |
| HP:0040068 | Abnormality of limb bone |
| HP:0002813 | Abnormality of limb bone morphology |
| HP:0006505 | Abnormality of limb epiphysis morphology |
| HP:0040064 | Abnormality of limbs |
| HP:3000074 | Abnormality of lingual artery |
| HP:3000075 | Abnormality of lingual nerve |
| HP:3000076 | Abnormality of lingual tonsil |
| HP:0003119 | Abnormality of lipid metabolism |
| HP:0010968 | Abnormality of liposaccharide metabolism |
| HP:0011314 | Abnormality of long bone morphology |
| HP:0010964 | Abnormality of long-chain fatty-acid metabolism |
| HP:0040052 | Abnormality of lower eyelashes |
| HP:0040069 | Abnormality of lower limb bone |
| HP:0006500 | Abnormality of lower limb epiphysis morphology |
| HP:0100491 | Abnormality of lower limb joint |
| HP:0000178 | Abnormality of lower lip |
| HP:0006490 | Abnormality of lower-limb metaphyses |
| HP:0002088 | Abnormality of lung morphology |
| HP:0004332 | Abnormality of lymphocytes |
| HP:0010908 | Abnormality of lysine metabolism |
| HP:0004356 | Abnormality of lysosomal metabolism |
| HP:0004311 | Abnormality of macrophages |
| HP:0008002 | Abnormality of macular pigmentation |
| HP:0030495 | Abnormality of macular vasculature |
| HP:0004921 | Abnormality of magnesium homeostasis |
| HP:0012369 | Abnormality of malar bones |
| HP:0000032 | Abnormality of male external genitalia |
| HP:0000022 | Abnormality of male internal genitalia |
| HP:3000077 | Abnormality of mandible condylar process |
| HP:3000078 | Abnormality of mandible coronoid process |
| HP:3000003 | Abnormality of mandibular ramus |
| HP:3000079 | Abnormality of mandibular symphysis |
| HP:3000005 | Abnormality of masseter muscle |
| HP:0100494 | Abnormality of mast cells |
| HP:0410011 | Abnormality of masticatory muscle |
| HP:3000006 | Abnormality of medial pterygoid muscle |
| HP:0025361 | Abnormality of medullary pyramid morphology |
| HP:3000007 | Abnormality of mentalis muscle |
| HP:0025042 | Abnormality of mesenteric lymph nodes |
| HP:0100016 | Abnormality of mesentery morphology |
| HP:0001939 | Abnormality of metabolism/homeostasis |
| HP:0005913 | Abnormality of metacarpal epiphyses |
| HP:0011911 | Abnormality of metacarpophalangeal joint |
| HP:0010630 | Abnormality of metatarsal epiphysis |
| HP:0010901 | Abnormality of methionine metabolism |
| HP:0002418 | Abnormality of midbrain morphology |
| HP:0003287 | Abnormality of mitochondrial metabolism |
| HP:0011077 | Abnormality of molar |
| HP:0011070 | Abnormality of molar morphology |
| HP:0010996 | Abnormality of monocarboxylic acid metabolism |
| HP:0010930 | Abnormality of monovalent inorganic cation homeostasis |
| HP:0011338 | Abnormality of mouth shape |
| HP:0011337 | Abnormality of mouth size |
| HP:0100022 | Abnormality of movement |
| HP:0011020 | Abnormality of mucopolysaccharide metabolism |
| HP:0012145 | Abnormality of multiple cell lineages in the bone marrow |
| HP:0004303 | Abnormality of muscle fibers |
| HP:0011805 | Abnormality of muscle morphology |
| HP:0430019 | Abnormality of muscle of facial expression |
| HP:0011804 | Abnormality of muscle physiology |
| HP:0030236 | Abnormality of muscle size |
| HP:0430015 | Abnormality of musculature of pharynx |
| HP:0430014 | Abnormality of musculature of soft palate |
| HP:0010974 | Abnormality of myeloid leukocytes |
| HP:3000008 | Abnormality of mylohyoid muscle |
| HP:0100643 | Abnormality of nail color |
| HP:0040057 | Abnormality of nasal hair |
| HP:0430018 | Abnormality of nasal musculature |
| HP:3000009 | Abnormality of nasalis muscle |
| HP:3000033 | Abnormality of nasopharyngeal adenoids |
| HP:0040089 | Abnormality of natural killer cell number |
| HP:0012176 | Abnormality of natural killer cells |
| HP:3000037 | Abnormality of neck blood vessel |
| HP:0012639 | Abnormality of nervous system morphology |
| HP:0012638 | Abnormality of nervous system physiology |
| HP:0002269 | Abnormality of neuronal migration |
| HP:0011992 | Abnormality of neutrophil morphology |
| HP:0011990 | Abnormality of neutrophil physiology |
| HP:0001874 | Abnormality of neutrophils |
| HP:0004364 | Abnormality of nitrogen compound homeostasis |
| HP:0010932 | Abnormality of nucleobase metabolism |
| HP:0040172 | Abnormality of occipitofrontalis muscle |
| HP:0011347 | Abnormality of ocular abduction |
| HP:0000617 | Abnormality of ocular smooth pursuit |
| HP:3000050 | Abnormality of odontoid tissue |
| HP:0025057 | Abnormality of olfactory lobe morphology |
| HP:0410006 | Abnormality of ophthalmic artery |
| HP:0025163 | Abnormality of optic chiasm morphology |
| HP:0000190 | Abnormality of oral frenula |
| HP:0011830 | Abnormality of oral mucosa |
| HP:3000010 | Abnormality of orbicularis oris muscle |
| HP:0012025 | Abnormality of ornithine metabolism |
| HP:0010928 | Abnormality of orotic acid metabolism |
| HP:0010832 | Abnormality of pain sensation |
| HP:3000011 | Abnormality of palatoglossus muscle |
| HP:3000012 | Abnormality of palatopharyngeus muscle |
| HP:0012090 | Abnormality of pancreas morphology |
| HP:0012091 | Abnormality of pancreas physiology |
| HP:0000197 | Abnormality of parotid gland |
| HP:0030456 | Abnormality of pattern onset/offset visual evoked potentials |
| HP:0100289 | Abnormality of pattern reversal visual evoked potentials |
| HP:0030455 | Abnormality of pattern visual evoked potentials |
| HP:0002644 | Abnormality of pelvic girdle bone morphology |
| HP:0000383 | Abnormality of periauricular region |
| HP:0003134 | Abnormality of peripheral nerve conduction |
| HP:0045010 | Abnormality of peripheral nerves |
| HP:0030177 | Abnormality of peripheral nervous system electrophysiology |
| HP:0100290 | Abnormality of peripheral somatosensory evoked potentials |
| HP:0011071 | Abnormality of permanent molar morphology |
| HP:0010977 | Abnormality of phagocytes |
| HP:0006261 | Abnormality of phalangeal joints of the hand |
| HP:0005918 | Abnormality of phalanx of finger |
| HP:0010324 | Abnormality of phalanx of the 2nd toe |
| HP:0010893 | Abnormality of phenylalanine metabolism |
| HP:0100529 | Abnormality of phosphate homeostasis |
| HP:0010965 | Abnormality of phytanic acid metabolism |
| HP:0012681 | Abnormality of pineal morphology |
| HP:0012688 | Abnormality of pineal physiology |
| HP:0011409 | Abnormality of placental membranes |
| HP:3000013 | Abnormality of platysma |
| HP:0011012 | Abnormality of polysaccharide metabolism |
| HP:0011042 | Abnormality of potassium homeostasis |
| HP:0011076 | Abnormality of premolar |
| HP:0011080 | Abnormality of premolar morphology |
| HP:0001197 | Abnormality of prenatal development or birth |
| HP:0006344 | Abnormality of primary molar morphology |
| HP:0006481 | Abnormality of primary teeth |
| HP:3000014 | Abnormality of procerus muscle |
| HP:0010907 | Abnormality of proline metabolism |
| HP:0011023 | Abnormality of prostaglandin metabolism |
| HP:0004355 | Abnormality of proteoglycan metabolism |
| HP:0012200 | Abnormality of prothrombin |
| HP:0030875 | Abnormality of pulmonary circulation |
| HP:0011615 | Abnormality of pulmonary situs |
| HP:0004352 | Abnormality of purine metabolism |
| HP:0004353 | Abnormality of pyrimidine metabolism |
| HP:0010915 | Abnormality of pyruvate family amino acid metabolism |
| HP:0004027 | Abnormality of radial diaphysis |
| HP:0003999 | Abnormality of radial epiphyses |
| HP:0004015 | Abnormality of radial metaphyses |
| HP:0000539 | Abnormality of refraction |
| HP:0011130 | Abnormality of renal calyx morphology |
| HP:0011036 | Abnormality of renal excretion |
| HP:0011038 | Abnormality of renal resorption |
| HP:0000847 | Abnormality of renin-angiotensin system |
| HP:0000080 | Abnormality of reproductive system physiology |
| HP:0004312 | Abnormality of reticulocytes |
| HP:0000630 | Abnormality of retinal arteries |
| HP:0007703 | Abnormality of retinal pigmentation |
| HP:3000015 | Abnormality of risorius muscle |
| HP:0000570 | Abnormality of saccadic eye movements |
| HP:0100755 | Abnormality of salivation |
| HP:0010898 | Abnormality of sarcosine metabolism |
| HP:0009888 | Abnormality of secondary sexual hair |
| HP:0010894 | Abnormality of serine family amino acid metabolism |
| HP:0012278 | Abnormality of serine metabolism |
| HP:0003112 | Abnormality of serum amino acid levels |
| HP:0011112 | Abnormality of serum cytokine level |
| HP:0100685 | Abnormality of Sharpey fibers |
| HP:0000927 | Abnormality of skeletal maturation |
| HP:0011842 | Abnormality of skeletal morphology |
| HP:0012084 | Abnormality of skeletal muscle fiber size |
| HP:0011843 | Abnormality of skeletal physiology |
| HP:0011138 | Abnormality of skin adnexa morphology |
| HP:0025276 | Abnormality of skin adnexa physiology |
| HP:0011121 | Abnormality of skin morphology |
| HP:0011122 | Abnormality of skin physiology |
| HP:0001000 | Abnormality of skin pigmentation |
| HP:0002703 | Abnormality of skull ossification |
| HP:0000240 | Abnormality of skull size |
| HP:0011472 | Abnormality of small intestinal villus morphology |
| HP:0010931 | Abnormality of sodium homeostasis |
| HP:0410010 | Abnormality of somatic nerve plexus |
| HP:0007377 | Abnormality of somatosensory evoked potentials |
| HP:0030870 | Abnormality of spinal facet joint |
| HP:0011244 | Abnormality of stem of antihelix |
| HP:3000016 | Abnormality of styloglossus muscle |
| HP:0001001 | Abnormality of subcutaneous fat tissue |
| HP:0004339 | Abnormality of sulfur amino acid metabolism |
| HP:0011245 | Abnormality of superior crus of antihelix |
| HP:0004358 | Abnormality of superoxide metabolism |
| HP:0025231 | Abnormality of synovial bursa morphology |
| HP:0011839 | Abnormality of T cell count |
| HP:0011840 | Abnormality of T cell physiology |
| HP:0002843 | Abnormality of T cells |
| HP:0000223 | Abnormality of taste sensation |
| HP:0004370 | Abnormality of temperature regulation |
| HP:3000017 | Abnormality of temporalis muscle |
| HP:0430016 | Abnormality of tensor veli palatini muscle |
| HP:0010663 | Abnormality of thalamus morphology |
| HP:0010009 | Abnormality of the 1st metacarpal |
| HP:0004100 | Abnormality of the 2nd finger |
| HP:0010010 | Abnormality of the 2nd metacarpal |
| HP:0010319 | Abnormality of the 2nd toe |
| HP:0004150 | Abnormality of the 3rd finger |
| HP:0010011 | Abnormality of the 3rd metacarpal |
| HP:0010320 | Abnormality of the 3rd toe |
| HP:0004188 | Abnormality of the 4th finger |
| HP:0010012 | Abnormality of the 4th metacarpal |
| HP:0010321 | Abnormality of the 4th toe |
| HP:0004207 | Abnormality of the 5th finger |
| HP:0010013 | Abnormality of the 5th metacarpal |
| HP:0010322 | Abnormality of the 5th toe |
| HP:0010991 | Abnormality of the abdominal musculature |
| HP:0002012 | Abnormality of the abdominal organs |
| HP:0004298 | Abnormality of the abdominal wall |
| HP:0003170 | Abnormality of the acetabulum |
| HP:0005109 | Abnormality of the Achilles tendon |
| HP:0040121 | Abnormality of the acoustic reflex |
| HP:0000834 | Abnormality of the adrenal glands |
| HP:0005482 | Abnormality of the alternate complement pathway |
| HP:0006477 | Abnormality of the alveolar ridges |
| HP:0001560 | Abnormality of the amniotic fluid |
| HP:0003028 | Abnormality of the ankles |
| HP:0000593 | Abnormality of the anterior chamber |
| HP:0030301 | Abnormality of the anterior commissure |
| HP:0000236 | Abnormality of the anterior fontanelle |
| HP:0011747 | Abnormality of the anterior pituitary |
| HP:0004328 | Abnormality of the anterior segment of the globe |
| HP:0009738 | Abnormality of the antihelix |
| HP:0009896 | Abnormality of the antitragus |
| HP:0004378 | Abnormality of the anus |
| HP:0001679 | Abnormality of the aorta |
| HP:0012303 | Abnormality of the aortic arch |
| HP:0001646 | Abnormality of the aortic valve |
| HP:0100700 | Abnormality of the arachnoid mater |
| HP:0008744 | Abnormality of the aryepiglottic fold |
| HP:0100707 | Abnormality of the astrocytes |
| HP:0011994 | Abnormality of the atrial septum |
| HP:0006705 | Abnormality of the atrioventricular valves |
| HP:0000372 | Abnormality of the auditory canal |
| HP:0002270 | Abnormality of the autonomic nervous system |
| HP:0100134 | Abnormality of the axillary hair |
| HP:0002134 | Abnormality of the basal ganglia |
| HP:0030798 | Abnormality of the bed nucleus of stria terminalis |
| HP:0004297 | Abnormality of the biliary system |
| HP:0000014 | Abnormality of the bladder |
| HP:0045052 | Abnormality of the brachial nerve plexus |
| HP:0012501 | Abnormality of the brainstem white matter |
| HP:0000769 | Abnormality of the breast |
| HP:0002109 | Abnormality of the bronchi |
| HP:0008364 | Abnormality of the calcaneus |
| HP:0002981 | Abnormality of the calf |
| HP:0001430 | Abnormality of the calf musculature |
| HP:0002683 | Abnormality of the calvaria |
| HP:0004262 | Abnormality of the capitate bone |
| HP:0001671 | Abnormality of the cardiac septa |
| HP:0001626 | Abnormality of the cardiovascular system |
| HP:0005344 | Abnormality of the carotid arteries |
| HP:0001191 | Abnormality of the carpal bones |
| HP:0002339 | Abnormality of the caudate nucleus |
| HP:0012326 | Abnormality of the celiac artery |
| HP:0011018 | Abnormality of the cell cycle |
| HP:0100717 | Abnormality of the cementum |
| HP:0011931 | Abnormality of the cerebellar peduncle |
| HP:0002334 | Abnormality of the cerebellar vermis |
| HP:0001317 | Abnormality of the cerebellum |
| HP:0002538 | Abnormality of the cerebral cortex |
| HP:0010993 | Abnormality of the cerebral subcortex |
| HP:0100659 | Abnormality of the cerebral vasculature |
| HP:0002118 | Abnormality of the cerebral ventricles |
| HP:0002500 | Abnormality of the cerebral white matter |
| HP:0002921 | Abnormality of the cerebrospinal fluid |
| HP:0002060 | Abnormality of the cerebrum |
| HP:0003319 | Abnormality of the cervical spine |
| HP:0004426 | Abnormality of the cheek |
| HP:0000306 | Abnormality of the chin |
| HP:0000415 | Abnormality of the choanae |
| HP:0000610 | Abnormality of the choroid |
| HP:0007376 | Abnormality of the choroid plexus |
| HP:0012776 | Abnormality of the ciliary body |
| HP:0000889 | Abnormality of the clavicle |
| HP:0000056 | Abnormality of the clitoris |
| HP:0010558 | Abnormality of the clivus |
| HP:0003256 | Abnormality of the coagulation cascade |
| HP:0008519 | Abnormality of the coccyx |
| HP:0011396 | Abnormality of the cochlear nerve |
| HP:0009929 | Abnormality of the columella |
| HP:0430021 | Abnormality of the common carotid artery |
| HP:0010990 | Abnormality of the common coagulation pathway |
| HP:0030671 | Abnormality of the common tendinous ring |
| HP:0000502 | Abnormality of the conjunctiva |
| HP:0000481 | Abnormality of the cornea |
| HP:0025348 | Abnormality of the corneal limbus |
| HP:0006704 | Abnormality of the coronary arteries |
| HP:0011642 | Abnormality of the coronary sinus |
| HP:0001273 | Abnormality of the corpus callosum |
| HP:0010629 | Abnormality of the cortex of the humerus |
| HP:0002492 | Abnormality of the corticospinal tract |
| HP:0000919 | Abnormality of the costochondral junction |
| HP:0001291 | Abnormality of the cranial nerves |
| HP:0009895 | Abnormality of the crus of the helix |
| HP:0100691 | Abnormality of the curvature of the cornea |
| HP:0010674 | Abnormality of the curvature of the vertebral column |
| HP:0003889 | Abnormality of the deltoid tuberosities |
| HP:0006479 | Abnormality of the dental pulp |
| HP:0006486 | Abnormality of the dental root |
| HP:0100321 | Abnormality of the dentate nucleus |
| HP:0000775 | Abnormality of the diaphragm |
| HP:0010662 | Abnormality of the diencephalon |
| HP:0025031 | Abnormality of the digestive system |
| HP:0010590 | Abnormality of the distal femoral epiphysis |
| HP:0010595 | Abnormality of the distal fibular epiphysis |
| HP:0010599 | Abnormality of the distal humeral epiphysis |
| HP:0010182 | Abnormality of the distal phalanges of the toes |
| HP:0009832 | Abnormality of the distal phalanx of finger |
| HP:0009542 | Abnormality of the distal phalanx of the 2nd finger |
| HP:0010356 | Abnormality of the distal phalanx of the 2nd toe |
| HP:0009357 | Abnormality of the distal phalanx of the 3rd finger |
| HP:0010368 | Abnormality of the distal phalanx of the 3rd toe |
| HP:0009282 | Abnormality of the distal phalanx of the 4th finger |
| HP:0010380 | Abnormality of the distal phalanx of the 4th toe |
| HP:0004225 | Abnormality of the distal phalanx of the 5th finger |
| HP:0010392 | Abnormality of the distal phalanx of the 5th toe |
| HP:0010053 | Abnormality of the distal phalanx of the hallux |
| HP:0009617 | Abnormality of the distal phalanx of the thumb |
| HP:0010597 | Abnormality of the distal radial epiphysis |
| HP:0010592 | Abnormality of the distal tibial epiphysis |
| HP:0010600 | Abnormality of the distal ulnar epiphysis |
| HP:0011397 | Abnormality of the dorsal column of the spinal cord |
| HP:0100889 | Abnormality of the ductus choledochus |
| HP:0002246 | Abnormality of the duodenum |
| HP:0010652 | Abnormality of the dura mater |
| HP:0000598 | Abnormality of the ear |
| HP:0009811 | Abnormality of the elbow |
| HP:0003949 | Abnormality of the elbow metaphyses |
| HP:0010825 | Abnormality of the eleventh cranial nerve |
| HP:0004306 | Abnormality of the endocardium |
| HP:0000818 | Abnormality of the endocrine system |
| HP:0030126 | Abnormality of the endometrium |
| HP:0009714 | Abnormality of the epididymis |
| HP:0005483 | Abnormality of the epiglottis |
| HP:0006263 | Abnormality of the epiphyses of the 2nd finger |
| HP:0010323 | Abnormality of the epiphyses of the 2nd toe |
| HP:0009320 | Abnormality of the epiphyses of the 3rd finger |
| HP:0010329 | Abnormality of the epiphyses of the 3rd toe |
| HP:0009174 | Abnormality of the epiphyses of the 4th finger |
| HP:0010335 | Abnormality of the epiphyses of the 4th toe |
| HP:0009152 | Abnormality of the epiphyses of the 5th finger |
| HP:0010341 | Abnormality of the epiphyses of the 5th toe |
| HP:0010243 | Abnormality of the epiphyses of the distal phalanx of finger |
| HP:0003946 | Abnormality of the epiphyses of the elbow |
| HP:0010631 | Abnormality of the epiphyses of the feet |
| HP:0010056 | Abnormality of the epiphyses of the hallux |
| HP:0005924 | Abnormality of the epiphyses of the hand |
| HP:0010244 | Abnormality of the epiphyses of the middle phalanges of the hand |
| HP:0005920 | Abnormality of the epiphyses of the phalanges of the hand |
| HP:0010245 | Abnormality of the epiphyses of the proximal phalanges of the hand |
| HP:0010160 | Abnormality of the epiphyses of the toes |
| HP:0010014 | Abnormality of the epiphysis of the 1st metacarpal |
| HP:0010125 | Abnormality of the epiphysis of the 1st metatarsal |
| HP:0010220 | Abnormality of the epiphysis of the 2nd metacarpal |
| HP:0010222 | Abnormality of the epiphysis of the 3rd metacarpal |
| HP:0010224 | Abnormality of the epiphysis of the 4th metacarpal |
| HP:0010226 | Abnormality of the epiphysis of the 5th metacarpal |
| HP:0009499 | Abnormality of the epiphysis of the distal phalanx of the 2nd finger |
| HP:0100088 | Abnormality of the epiphysis of the distal phalanx of the 2nd toe |
| HP:0009332 | Abnormality of the epiphysis of the distal phalanx of the 3rd finger |
| HP:0100091 | Abnormality of the epiphysis of the distal phalanx of the 3rd toe |
| HP:0009249 | Abnormality of the epiphysis of the distal phalanx of the 4th finger |
| HP:0100094 | Abnormality of the epiphysis of the distal phalanx of the 4th toe |
| HP:0009198 | Abnormality of the epiphysis of the distal phalanx of the 5th finger |
| HP:0100097 | Abnormality of the epiphysis of the distal phalanx of the 5th toe |
| HP:0010124 | Abnormality of the epiphysis of the distal phalanx of the hallux |
| HP:0009662 | Abnormality of the epiphysis of the distal phalanx of the thumb |
| HP:0010574 | Abnormality of the epiphysis of the femoral head |
| HP:0009500 | Abnormality of the epiphysis of the middle phalanx of the 2nd finger |
| HP:0100089 | Abnormality of the epiphysis of the middle phalanx of the 2nd toe |
| HP:0009334 | Abnormality of the epiphysis of the middle phalanx of the 3rd finger |
| HP:0100092 | Abnormality of the epiphysis of the middle phalanx of the 3rd toe |
| HP:0009247 | Abnormality of the epiphysis of the middle phalanx of the 4th finger |
| HP:0100095 | Abnormality of the epiphysis of the middle phalanx of the 4th toe |
| HP:0004224 | Abnormality of the epiphysis of the middle phalanx of the 5th finger |
| HP:0100098 | Abnormality of the epiphysis of the middle phalanx of the 5th toe |
| HP:0009501 | Abnormality of the epiphysis of the proximal phalanx of the 2nd finger |
| HP:0100090 | Abnormality of the epiphysis of the proximal phalanx of the 2nd toe |
| HP:0009333 | Abnormality of the epiphysis of the proximal phalanx of the 3rd finger |
| HP:0100093 | Abnormality of the epiphysis of the proximal phalanx of the 3rd toe |
| HP:0009248 | Abnormality of the epiphysis of the proximal phalanx of the 4th finger |
| HP:0100096 | Abnormality of the epiphysis of the proximal phalanx of the 4th toe |
| HP:0009153 | Abnormality of the epiphysis of the proximal phalanx of the 5th finger |
| HP:0100099 | Abnormality of the epiphysis of the proximal phalanx of the 5th toe |
| HP:0010126 | Abnormality of the epiphysis of the proximal phalanx of the hallux |
| HP:0009663 | Abnormality of the epiphysis of the proximal phalanx of the thumb |
| HP:0040115 | Abnormality of the Eustachian tube |
| HP:0010938 | Abnormality of the external nose |
| HP:0008049 | Abnormality of the extraocular muscles |
| HP:0010988 | Abnormality of the extrinsic pathway |
| HP:0000478 | Abnormality of the eye |
| HP:0000534 | Abnormality of the eyebrow |
| HP:0000499 | Abnormality of the eyelashes |
| HP:0000492 | Abnormality of the eyelid |
| HP:0000271 | Abnormality of the face |
| HP:0011027 | Abnormality of the fallopian tube |
| HP:0010653 | Abnormality of the falx cerebri |
| HP:0100536 | Abnormality of the fascia |
| HP:0010460 | Abnormality of the female genitalia |
| HP:0003368 | Abnormality of the femoral head |
| HP:0006489 | Abnormality of the femoral metaphysis |
| HP:0003367 | Abnormality of the femoral neck |
| HP:0003366 | Abnormality of the femoral neck or head region |
| HP:0002823 | Abnormality of the femur |
| HP:0010948 | Abnormality of the fetal cardiovascular system |
| HP:0002991 | Abnormality of the fibula |
| HP:0010824 | Abnormality of the fifth cranial nerve |
| HP:0008089 | Abnormality of the fifth metatarsal bone |
| HP:0001231 | Abnormality of the fingernails |
| HP:0001211 | Abnormality of the fingertips |
| HP:0010054 | Abnormality of the first metatarsal bone |
| HP:0000235 | Abnormality of the fontanelles or cranial sutures |
| HP:0001760 | Abnormality of the foot |
| HP:0001436 | Abnormality of the foot musculature |
| HP:0002699 | Abnormality of the foramen magnum |
| HP:0002973 | Abnormality of the forearm |
| HP:0000290 | Abnormality of the forehead |
| HP:0040035 | Abnormality of the fourth metatarsal bone |
| HP:0010950 | Abnormality of the fourth ventricle |
| HP:0000493 | Abnormality of the fovea |
| HP:0430000 | Abnormality of the frontal bone |
| HP:0000599 | Abnormality of the frontal hairline |
| HP:0001098 | Abnormality of the fundus |
| HP:0005264 | Abnormality of the gallbladder |
| HP:0004295 | Abnormality of the gastric mucosa |
| HP:0011024 | Abnormality of the gastrointestinal tract |
| HP:0000078 | Abnormality of the genital system |
| HP:0000119 | Abnormality of the genitourinary system |
| HP:0000168 | Abnormality of the gingiva |
| HP:0002056 | Abnormality of the glabella |
| HP:0011912 | Abnormality of the glenoid fossa |
| HP:0100705 | Abnormality of the glial cells |
| HP:0012374 | Abnormality of the globe |
| HP:0002453 | Abnormality of the globus pallidus |
| HP:0000095 | Abnormality of the glomerulus |
| HP:0001443 | Abnormality of the gluteal musculature |
| HP:0010456 | Abnormality of the greater sacrosciatic notch |
| HP:0001595 | Abnormality of the hair |
| HP:0009553 | Abnormality of the hairline |
| HP:0001844 | Abnormality of the hallux |
| HP:0004259 | Abnormality of the hamate bone |
| HP:0001155 | Abnormality of the hand |
| HP:0100737 | Abnormality of the hard palate |
| HP:0000234 | Abnormality of the head |
| HP:0001654 | Abnormality of the heart valves |
| HP:0011039 | Abnormality of the helix |
| HP:0010472 | Abnormality of the heme biosynthetic pathway |
| HP:0040045 | Abnormality of the hemidiaphragms |
| HP:0006707 | Abnormality of the hepatic vasculature |
| HP:0003272 | Abnormality of the hip bone |
| HP:0001384 | Abnormality of the hip joint |
| HP:0001445 | Abnormality of the hip-girdle musculature |
| HP:0003926 | Abnormality of the humeral diaphysis |
| HP:0003905 | Abnormality of the humeral epiphyseal plate |
| HP:0003891 | Abnormality of the humeral epiphysis |
| HP:0003887 | Abnormality of the humeral heads |
| HP:0003907 | Abnormality of the humeral metaphyses |
| HP:0100744 | Abnormality of the humeroradial joint |
| HP:0100745 | Abnormality of the humeroulnar joint |
| HP:0003063 | Abnormality of the humerus |
| HP:0000864 | Abnormality of the hypothalamus-pituitary axis |
| HP:0010486 | Abnormality of the hypothenar eminence |
| HP:0001549 | Abnormality of the ileum |
| HP:0002867 | Abnormality of the ilium |
| HP:0002715 | Abnormality of the immune system |
| HP:0000676 | Abnormality of the incisor |
| HP:0011453 | Abnormality of the incus |
| HP:0000359 | Abnormality of the inner ear |
| HP:0001574 | Abnormality of the integument |
| HP:0011384 | Abnormality of the internal auditory canal |
| HP:0012502 | Abnormality of the internal capsule |
| HP:0005108 | Abnormality of the intervertebral disk |
| HP:0002242 | Abnormality of the intestine |
| HP:0011040 | Abnormality of the intrahepatic bile duct |
| HP:0010989 | Abnormality of the intrinsic pathway |
| HP:0000525 | Abnormality of the iris |
| HP:0003174 | Abnormality of the ischium |
| HP:0005265 | Abnormality of the jejunum |
| HP:0003943 | Abnormality of the joint spaces of the elbow |
| HP:0000077 | Abnormality of the kidney |
| HP:0005559 | Abnormality of the kinin-kallikrein system |
| HP:0002815 | Abnormality of the knee |
| HP:0000058 | Abnormality of the labia |
| HP:0012881 | Abnormality of the labia majora |
| HP:0012880 | Abnormality of the labia minora |
| HP:0430002 | Abnormality of the lacrimal bone |
| HP:0011481 | Abnormality of the lacrimal duct |
| HP:0011482 | Abnormality of the lacrimal gland |
| HP:0011479 | Abnormality of the lacrimal punctum |
| HP:0002250 | Abnormality of the large intestine |
| HP:0001600 | Abnormality of the larynx |
| HP:0040046 | Abnormality of the left hemidiaphragm |
| HP:0001711 | Abnormality of the left ventricle |
| HP:0011103 | Abnormality of the left ventricular outflow tract |
| HP:0000517 | Abnormality of the lens |
| HP:0010979 | Abnormality of the level of lipoprotein cholesterol |
| HP:0010789 | Abnormality of the Leydig cells |
| HP:0008048 | Abnormality of the line of Schwalbe |
| HP:0000159 | Abnormality of the lip |
| HP:0001392 | Abnormality of the liver |
| HP:0002814 | Abnormality of the lower limb |
| HP:0010936 | Abnormality of the lower urinary tract |
| HP:0100712 | Abnormality of the lumbar spine |
| HP:0045053 | Abnormality of the lumbosacral nerve plexus |
| HP:0004248 | Abnormality of the lunate bone |
| HP:0002733 | Abnormality of the lymph nodes |
| HP:0100763 | Abnormality of the lymphatic system |
| HP:0100766 | Abnormality of the lymphatic vessels |
| HP:0001103 | Abnormality of the macula |
| HP:0010461 | Abnormality of the male genitalia |
| HP:0011454 | Abnormality of the malleus |
| HP:0000277 | Abnormality of the mandible |
| HP:0000264 | Abnormality of the mastoid |
| HP:0000326 | Abnormality of the maxilla |
| HP:0430023 | Abnormality of the maxillary sinus |
| HP:0045026 | Abnormality of the mediastinum |
| HP:0011441 | Abnormality of the medulla oblongata |
| HP:0100253 | Abnormality of the medullary cavity of the long bones |
| HP:0010651 | Abnormality of the meninges |
| HP:0000140 | Abnormality of the menstrual cycle |
| HP:0001163 | Abnormality of the metacarpal bones |
| HP:0000944 | Abnormality of the metaphyses |
| HP:0001832 | Abnormality of the metatarsal bones |
| HP:0011283 | Abnormality of the metencephalon |
| HP:0005556 | Abnormality of the metopic suture |
| HP:0100708 | Abnormality of the microglia |
| HP:0000370 | Abnormality of the middle ear |
| HP:0004452 | Abnormality of the middle ear ossicles |
| HP:0009833 | Abnormality of the middle phalanges of the hand |
| HP:0010183 | Abnormality of the middle phalanges of the toes |
| HP:0009543 | Abnormality of the middle phalanx of the 2nd finger |
| HP:0010357 | Abnormality of the middle phalanx of the 2nd toe |
| HP:0004172 | Abnormality of the middle phalanx of the 3rd finger |
| HP:0010369 | Abnormality of the middle phalanx of the 3rd toe |
| HP:0009283 | Abnormality of the middle phalanx of the 4th finger |
| HP:0010381 | Abnormality of the middle phalanx of the 4th toe |
| HP:0004219 | Abnormality of the middle phalanx of the 5th finger |
| HP:0010393 | Abnormality of the middle phalanx of the 5th toe |
| HP:0000309 | Abnormality of the midface |
| HP:0010641 | Abnormality of the midnasal cavity |
| HP:0012103 | Abnormality of the mitochondrion |
| HP:0001633 | Abnormality of the mitral valve |
| HP:0000153 | Abnormality of the mouth |
| HP:0410012 | Abnormality of the mouth floor |
| HP:0003011 | Abnormality of the musculature |
| HP:0001421 | Abnormality of the musculature of the hand |
| HP:0009127 | Abnormality of the musculature of the limbs |
| HP:0001437 | Abnormality of the musculature of the lower limbs |
| HP:0011006 | Abnormality of the musculature of the neck |
| HP:0001469 | Abnormality of the musculature of the pelvis |
| HP:0001441 | Abnormality of the musculature of the thigh |
| HP:0009131 | Abnormality of the musculature of the thorax |
| HP:0001457 | Abnormality of the musculature of the upper arm |
| HP:0001446 | Abnormality of the musculature of the upper limbs |
| HP:0001637 | Abnormality of the myocardium |
| HP:0001597 | Abnormality of the nail |
| HP:0005288 | Abnormality of the nares |
| HP:0000429 | Abnormality of the nasal alae |
| HP:0010939 | Abnormality of the nasal bone |
| HP:0000422 | Abnormality of the nasal bridge |
| HP:0030027 | Abnormality of the nasal cartilage |
| HP:0010640 | Abnormality of the nasal cavity |
| HP:0011119 | Abnormality of the nasal dorsum |
| HP:0000433 | Abnormality of the nasal mucosa |
| HP:0000419 | Abnormality of the nasal septum |
| HP:0010937 | Abnormality of the nasal skeleton |
| HP:0000436 | Abnormality of the nasal tip |
| HP:0005289 | Abnormality of the nasolabial region |
| HP:0000614 | Abnormality of the nasolacrimal system |
| HP:0001739 | Abnormality of the nasopharynx |
| HP:0000464 | Abnormality of the neck |
| HP:0012575 | Abnormality of the nephron |
| HP:0000707 | Abnormality of the nervous system |
| HP:0004404 | Abnormality of the nipple |
| HP:0000366 | Abnormality of the nose |
| HP:0012294 | Abnormality of the occipital bone |
| HP:0003310 | Abnormality of the odontoid process |
| HP:0004032 | Abnormality of the olecranon |
| HP:0100706 | Abnormality of the oligodendroglia |
| HP:0012795 | Abnormality of the optic disc |
| HP:0000587 | Abnormality of the optic nerve |
| HP:0000163 | Abnormality of the oral cavity |
| HP:0000315 | Abnormality of the orbital region |
| HP:0100339 | Abnormality of the os naviculare pedis |
| HP:0000356 | Abnormality of the outer ear |
| HP:0000137 | Abnormality of the ovary |
| HP:0000174 | Abnormality of the palate |
| HP:0430003 | Abnormality of the palatine bone |
| HP:0100871 | Abnormality of the palm |
| HP:0010490 | Abnormality of the palmar creases |
| HP:0008050 | Abnormality of the palpebral fissures |
| HP:0001732 | Abnormality of the pancreas |
| HP:0006476 | Abnormality of the pancreatic islet cells |
| HP:0000245 | Abnormality of the paranasal sinuses |
| HP:0000828 | Abnormality of the parathyroid gland |
| HP:0011766 | Abnormality of the parathyroid morphology |
| HP:0011767 | Abnormality of the parathyroid physiology |
| HP:0002696 | Abnormality of the parietal bone |
| HP:0003045 | Abnormality of the patella |
| HP:0011957 | Abnormality of the pectoral muscle |
| HP:0000036 | Abnormality of the penis |
| HP:0001697 | Abnormality of the pericardium |
| HP:0000606 | Abnormality of the periorbital region |
| HP:0040166 | Abnormality of the periosteum |
| HP:0410008 | Abnormality of the peripheral nervous system |
| HP:0002585 | Abnormality of the peritoneum |
| HP:0100803 | Abnormality of the periungual region |
| HP:0002518 | Abnormality of the periventricular white matter |
| HP:0009541 | Abnormality of the phalanges of the 2nd finger |
| HP:0009316 | Abnormality of the phalanges of the 3rd finger |
| HP:0010330 | Abnormality of the phalanges of the 3rd toe |
| HP:0009172 | Abnormality of the phalanges of the 4th finger |
| HP:0010336 | Abnormality of the phalanges of the 4th toe |
| HP:0004213 | Abnormality of the phalanges of the 5th finger |
| HP:0010342 | Abnormality of the phalanges of the 5th toe |
| HP:0010057 | Abnormality of the phalanges of the hallux |
| HP:0010161 | Abnormality of the phalanges of the toes |
| HP:0000600 | Abnormality of the pharynx |
| HP:0000288 | Abnormality of the philtrum |
| HP:0100701 | Abnormality of the pia mater |
| HP:0012680 | Abnormality of the pineal gland |
| HP:0000377 | Abnormality of the pinna |
| HP:0012503 | Abnormality of the pituitary gland |
| HP:0100767 | Abnormality of the placenta |
| HP:0100872 | Abnormality of the plantar skin of foot |
| HP:0002103 | Abnormality of the pleura |
| HP:0007361 | Abnormality of the pons |
| HP:0000932 | Abnormality of the posterior cranial fossa |
| HP:0030141 | Abnormality of the posterior hairline |
| HP:0011751 | Abnormality of the posterior pituitary |
| HP:0004329 | Abnormality of the posterior segment of the globe |
| HP:0010758 | Abnormality of the premaxilla |
| HP:0100587 | Abnormality of the preputium |
| HP:0008775 | Abnormality of the prostate |
| HP:0030780 | Abnormality of the protein C anticoagulant pathway |
| HP:0010594 | Abnormality of the proximal fibular epiphysis |
| HP:0010598 | Abnormality of the proximal humeral epiphysis |
| HP:0009834 | Abnormality of the proximal phalanges of the hand |
| HP:0009544 | Abnormality of the proximal phalanx of the 2nd finger |
| HP:0010358 | Abnormality of the proximal phalanx of the 2nd toe |
| HP:0009358 | Abnormality of the proximal phalanx of the 3rd finger |
| HP:0010370 | Abnormality of the proximal phalanx of the 3rd toe |
| HP:0009284 | Abnormality of the proximal phalanx of the 4th finger |
| HP:0010382 | Abnormality of the proximal phalanx of the 4th toe |
| HP:0009150 | Abnormality of the proximal phalanx of the 5th finger |
| HP:0010394 | Abnormality of the proximal phalanx of the 5th toe |
| HP:0010052 | Abnormality of the proximal phalanx of the hallux |
| HP:0009618 | Abnormality of the proximal phalanx of the thumb |
| HP:0010596 | Abnormality of the proximal radial epiphysis |
| HP:0010591 | Abnormality of the proximal tibial epiphysis |
| HP:0010601 | Abnormality of the proximal ulnar epiphysis |
| HP:0003172 | Abnormality of the pubic bone |
| HP:0100133 | Abnormality of the pubic hair |
| HP:0004414 | Abnormality of the pulmonary artery |
| HP:0001641 | Abnormality of the pulmonary valve |
| HP:0004930 | Abnormality of the pulmonary vasculature |
| HP:0011718 | Abnormality of the pulmonary veins |
| HP:0000615 | Abnormality of the pupil |
| HP:0004400 | Abnormality of the pylorus |
| HP:0003995 | Abnormality of the radial head |
| HP:0003059 | Abnormality of the radioulnar joints |
| HP:0002818 | Abnormality of the radius |
| HP:0002034 | Abnormality of the rectum |
| HP:0040120 | Abnormality of the reflex of the tensor tympanii muscle |
| HP:0008776 | Abnormality of the renal artery |
| HP:0004742 | Abnormality of the renal collecting system |
| HP:0011035 | Abnormality of the renal cortex |
| HP:0100957 | Abnormality of the renal medulla |
| HP:0010944 | Abnormality of the renal pelvis |
| HP:0000091 | Abnormality of the renal tubule |
| HP:0002086 | Abnormality of the respiratory system |
| HP:0000479 | Abnormality of the retina |
| HP:0008046 | Abnormality of the retinal vasculature |
| HP:0001547 | Abnormality of the rib cage |
| HP:0000772 | Abnormality of the ribs |
| HP:0040047 | Abnormality of the right hemidiaphragm |
| HP:0001707 | Abnormality of the right ventricle |
| HP:0040099 | Abnormality of the round window |
| HP:0100781 | Abnormality of the sacroiliac joint |
| HP:0030266 | Abnormality of the sacroiliac notch |
| HP:0005107 | Abnormality of the sacrum |
| HP:0010286 | Abnormality of the salivary glands |
| HP:0001965 | Abnormality of the scalp |
| HP:0100037 | Abnormality of the scalp hair |
| HP:0004243 | Abnormality of the scaphoid |
| HP:0000782 | Abnormality of the scapula |
| HP:0000591 | Abnormality of the sclera |
| HP:0000045 | Abnormality of the scrotum |
| HP:0040034 | Abnormality of the second metatarsal bone |
| HP:0002679 | Abnormality of the sella turcica |
| HP:0004408 | Abnormality of the sense of smell |
| HP:0007375 | Abnormality of the septum pellucidum |
| HP:0010827 | Abnormality of the seventh cranial nerve |
| HP:0430026 | Abnormality of the shape of the midface |
| HP:0003043 | Abnormality of the shoulder |
| HP:0001435 | Abnormality of the shoulder girdle musculature |
| HP:0011348 | Abnormality of the sixth cranial nerve |
| HP:0000924 | Abnormality of the skeletal system |
| HP:0000951 | Abnormality of the skin |
| HP:0040211 | Abnormality of the skin of the palm |
| HP:0000929 | Abnormality of the skull |
| HP:0002693 | Abnormality of the skull base |
| HP:0002244 | Abnormality of the small intestine |
| HP:0100736 | Abnormality of the soft palate |
| HP:0410009 | Abnormality of the somatic nervous system |
| HP:0430022 | Abnormality of the sphenoid sinus |
| HP:0002143 | Abnormality of the spinal cord |
| HP:0009744 | Abnormality of the spinal dura mater |
| HP:0010303 | Abnormality of the spinal meninges |
| HP:0003133 | Abnormality of the spinocerebellar tracts |
| HP:0001743 | Abnormality of the spleen |
| HP:0008628 | Abnormality of the stapes |
| HP:0000766 | Abnormality of the sternum |
| HP:0002577 | Abnormality of the stomach |
| HP:0010994 | Abnormality of the striatum |
| HP:0004035 | Abnormality of the styloid process of ulna |
| HP:0012703 | Abnormality of the subarachnoid space |
| HP:0010288 | Abnormality of the sublingual glands |
| HP:0010287 | Abnormality of the submandibular glands |
| HP:0410013 | Abnormality of the submandibular region |
| HP:0045007 | Abnormality of the substantia nigra |
| HP:0009723 | Abnormality of the subungual region |
| HP:0011932 | Abnormality of the superior cerebellar peduncle |
| HP:0100538 | Abnormality of the supraorbital ridges |
| HP:0012628 | Abnormality of the suspensory ligament of lens |
| HP:0000971 | Abnormality of the sweat gland |
| HP:0005262 | Abnormality of the synovia |
| HP:0011004 | Abnormality of the systemic arterial tree |
| HP:0008365 | Abnormality of the talus |
| HP:0001850 | Abnormality of the tarsal bones |
| HP:0000164 | Abnormality of the teeth |
| HP:0009911 | Abnormality of the temporal bone |
| HP:0010754 | Abnormality of the temporomandibular joint |
| HP:0000035 | Abnormality of the testis |
| HP:0045058 | Abnormality of the testis size |
| HP:0001227 | Abnormality of the thenar eminence |
| HP:0010672 | Abnormality of the third metatarsal bone |
| HP:0010951 | Abnormality of the third ventricle |
| HP:0045027 | Abnormality of the thoracic cavity |
| HP:0100711 | Abnormality of the thoracic spine |
| HP:0000765 | Abnormality of the thorax |
| HP:0001172 | Abnormality of the thumb |
| HP:0000777 | Abnormality of the thymus |
| HP:0000820 | Abnormality of the thyroid gland |
| HP:0002992 | Abnormality of the tibia |
| HP:0006491 | Abnormality of the tibial metaphysis |
| HP:0003832 | Abnormality of the tibial plateaux |
| HP:0008388 | Abnormality of the toenails |
| HP:0000157 | Abnormality of the tongue |
| HP:0040173 | Abnormality of the tongue muscle |
| HP:0100765 | Abnormality of the tonsils |
| HP:0012630 | Abnormality of the trabecular meshwork |
| HP:0002778 | Abnormality of the trachea |
| HP:0005607 | Abnormality of the tracheobronchial system |
| HP:0009912 | Abnormality of the tragus |
| HP:0004252 | Abnormality of the trapezium |
| HP:0004256 | Abnormality of the trapezoid bone |
| HP:0001702 | Abnormality of the tricuspid valve |
| HP:0010826 | Abnormality of the twelfth cranial nerve |
| HP:0040090 | Abnormality of the tympanic membrane |
| HP:0002997 | Abnormality of the ulna |
| HP:0004037 | Abnormality of the ulnar epiphyses |
| HP:0010881 | Abnormality of the umbilical cord |
| HP:0001551 | Abnormality of the umbilicus |
| HP:0001454 | Abnormality of the upper arm |
| HP:0002817 | Abnormality of the upper limb |
| HP:0002087 | Abnormality of the upper respiratory tract |
| HP:0010935 | Abnormality of the upper urinary tract |
| HP:0010478 | Abnormality of the urachus |
| HP:0000069 | Abnormality of the ureter |
| HP:0000795 | Abnormality of the urethra |
| HP:0000079 | Abnormality of the urinary system |
| HP:0011277 | Abnormality of the urinary system physiology |
| HP:0012888 | Abnormality of the uterine cervix |
| HP:0000130 | Abnormality of the uterus |
| HP:0000553 | Abnormality of the uvea |
| HP:0000172 | Abnormality of the uvula |
| HP:0000142 | Abnormality of the vagina |
| HP:0002597 | Abnormality of the vasculature |
| HP:0008054 | Abnormality of the vasculature of the conjunctiva |
| HP:0008047 | Abnormality of the vasculature of the eye |
| HP:0005345 | Abnormality of the vena cava |
| HP:0010438 | Abnormality of the ventricular septum |
| HP:0003468 | Abnormality of the vertebrae |
| HP:0030321 | Abnormality of the vertebral artery |
| HP:0000925 | Abnormality of the vertebral column |
| HP:0005106 | Abnormality of the vertebral endplates |
| HP:0008516 | Abnormality of the vertebral spinous processes |
| HP:0011392 | Abnormality of the vestibular nerve |
| HP:0040100 | Abnormality of the vestibular window |
| HP:0009591 | Abnormality of the vestibulocochlear nerve |
| HP:0100496 | Abnormality of the vitamin B3 metabolism |
| HP:0004327 | Abnormality of the vitreous humor |
| HP:0008777 | Abnormality of the vocal cords |
| HP:0001608 | Abnormality of the voice |
| HP:0011867 | Abnormality of the wing of the ilium |
| HP:0003019 | Abnormality of the wrist |
| HP:0100892 | Abnormality of the xiphoid process |
| HP:0005557 | Abnormality of the zygomatic arch |
| HP:0010668 | Abnormality of the zygomatic bone |
| HP:0010900 | Abnormality of threonine metabolism |
| HP:0001872 | Abnormality of thrombocytes |
| HP:0030389 | Abnormality of thromboxane metabolism |
| HP:0009599 | Abnormality of thumb epiphysis |
| HP:0009602 | Abnormality of thumb phalanx |
| HP:0011772 | Abnormality of thyroid morphology |
| HP:0002926 | Abnormality of thyroid physiology |
| HP:0006508 | Abnormality of tibial epiphyses |
| HP:0001780 | Abnormality of toe |
| HP:0010184 | Abnormality of toe proximal phalanx |
| HP:0011030 | Abnormality of transition element cation homeostasis |
| HP:0004365 | Abnormality of tryptophan metabolism |
| HP:0011118 | Abnormality of tumor necrosis factor secretion |
| HP:0010917 | Abnormality of tyrosine metabolism |
| HP:0004039 | Abnormality of ulnar metaphysis |
| HP:0010949 | Abnormality of umbilical vein blood flow |
| HP:0011022 | Abnormality of unsaturated fatty acid metabolism |
| HP:0040051 | Abnormality of upper eyelashes |
| HP:0040070 | Abnormality of upper limb bone |
| HP:0003839 | Abnormality of upper limb epiphysis morphology |
| HP:0009810 | Abnormality of upper limb joint |
| HP:0009809 | Abnormality of upper limb metaphysis |
| HP:0000177 | Abnormality of upper lip |
| HP:0011339 | Abnormality of upper lip vermillion |
| HP:0012610 | Abnormality of urinary uric acid concentration |
| HP:0011279 | Abnormality of urine bicarbonate concentration |
| HP:0011280 | Abnormality of urine calcium concentration |
| HP:0011281 | Abnormality of urine catecholamine concentration |
| HP:0011016 | Abnormality of urine glucose concentration |
| HP:0003110 | Abnormality of urine homeostasis |
| HP:0012029 | Abnormality of urine hormone level |
| HP:0430017 | Abnormality of uvular muscle |
| HP:0010914 | Abnormality of valine metabolism |
| HP:0030846 | Abnormality of venous physiology |
| HP:0100734 | Abnormality of vertebral epiphysis morphology |
| HP:0000504 | Abnormality of vision |
| HP:0000649 | Abnormality of visual evoked potentials |
| HP:0008372 | Abnormality of vitamin A metabolism |
| HP:0004340 | Abnormality of vitamin B metabolism |
| HP:0004341 | Abnormality of vitamin B12 metabolism |
| HP:0100509 | Abnormality of vitamin C metabolism |
| HP:0100511 | Abnormality of vitamin D metabolism |
| HP:0100514 | Abnormality of vitamin E metabolism |
| HP:0100831 | Abnormality of vitamin K metabolism |
| HP:0100508 | Abnormality of vitamin metabolism |
| HP:0410000 | Abnormality of vomer |
| HP:0012146 | Abnormality of von Willebrand factor |
| HP:0010933 | Abnormality of xanthine metabolism |
| HP:0008277 | Abnormality of zinc homeostasis |
| HP:3000018 | Abnormality of zygomaticus major muscle |
| HP:3000020 | Abnormality of zygomaticus minor muscle |
| HP:0030878 | Abnormality on pulmonary function testing |
| HP:0008544 | Abnormally folded helix |
| HP:0008067 | Abnormally lax or hyperextensible skin |
| HP:0010300 | Abnormally low-pitched voice |
| HP:0007873 | Abnormally prominent line of Schwalbe |
| HP:0006014 | Abnormally shaped carpal bones |
| HP:0100795 | Abnormally straight spine |
| HP:0006944 | Abolished vibration sense |
| HP:0008529 | Absence of acoustic reflex |
| HP:0012526 | Absence of alpha granules |
| HP:0002723 | Absence of bactericidal oxidative 'respiratory burst' in phagocytes |
| HP:0030336 | Absence of CD4-positive, CD25-positive regulatory T cells |
| HP:0005422 | Absence of CD8+ T cells |
| HP:0030135 | Absence of intermediate von Willibrand factor multimers |
| HP:0005219 | Absence of intrinsic factor |
| HP:0008729 | Absence of labia majora |
| HP:0030132 | Absence of large von Willibrand factor multimers |
| HP:0010971 | Absence of Lutheran antigen on erythrocytes |
| HP:0002849 | Absence of lymph node germinal center |
| HP:0030252 | Absence of mature B cells |
| HP:0030251 | Absence of memory B cells |
| HP:0005255 | Absence of pectoralis minor muscle |
| HP:0008197 | Absence of pubertal development |
| HP:0005564 | Absence of renal corticomedullary differentiation |
| HP:0008187 | Absence of secondary sex characteristics |
| HP:0000198 | Absence of Stensen duct |
| HP:0010963 | Absence of stomach bubble on fetal sonography |
| HP:0007485 | Absence of subcutaneous fat |
| HP:0007409 | Absence of subcutaneous fat over entire body except buttocks, hips, and thighs |
| HP:0005134 | Absence of the pulmonary valve |
| HP:0040114 | Absence of the reflex of the tensor tympani muscle |
| HP:0010305 | Absence of the sacrum |
| HP:0010661 | Absence of the third cerebral ventricle |
| HP:0002121 | Absence seizures |
| HP:0011149 | Absence seizures with eyelid myoclonia |
| HP:0011148 | Absence seizures with special features |
| HP:0003438 | Absent Achilles reflex |
| HP:0008037 | Absent anterior eye chamber |
| HP:0011234 | Absent antihelix |
| HP:0011249 | Absent antitragus |
| HP:0006681 | Absent atrioventricular node |
| HP:0002221 | Absent axillary hair |
| HP:0004463 | Absent brainstem auditory responses |
| HP:0005354 | Absent cellular immunity |
| HP:0012264 | Absent central microtubular pair morphology of respiratory motile cilia |
| HP:0011255 | Absent crus of helix |
| HP:0010800 | Absent cupid's bow |
| HP:0001032 | Absent distal interphalangeal creases |
| HP:0005807 | Absent distal phalanges |
| HP:0010432 | Absent distal phalanx of the 2nd toe |
| HP:0100378 | Absent distal phalanx of the 3rd toe |
| HP:0001049 | Absent dorsal skin creases over affected joints |
| HP:0000387 | Absent earlobe |
| HP:0010577 | Absent epiphyses |
| HP:0009488 | Absent epiphyses of the 2nd finger |
| HP:0100044 | Absent epiphyses of the 2nd toe |
| HP:0009410 | Absent epiphyses of the 3rd finger |
| HP:0100055 | Absent epiphyses of the 3rd toe |
| HP:0009393 | Absent epiphyses of the 4th finger |
| HP:0100066 | Absent epiphyses of the 4th toe |
| HP:0009382 | Absent epiphyses of the 5th finger |
| HP:0100077 | Absent epiphyses of the 5th toe |
| HP:0010246 | Absent epiphyses of the distal phalanges of the hand |
| HP:0010257 | Absent epiphyses of the middle phalanges of the hand |
| HP:0010228 | Absent epiphyses of the phalanges of the hand |
| HP:0010268 | Absent epiphyses of the proximal phalanges of the hand |
| HP:0009686 | Absent epiphyses of the thumb |
| HP:0010162 | Absent epiphyses of the toes |
| HP:0010015 | Absent epiphysis of the 1st metacarpal |
| HP:0010149 | Absent epiphysis of the 1st metatarsal |
| HP:0009502 | Absent epiphysis of the distal phalanx of the 2nd finger |
| HP:0100100 | Absent epiphysis of the distal phalanx of the 2nd toe |
| HP:0009335 | Absent epiphysis of the distal phalanx of the 3rd finger |
| HP:0100135 | Absent epiphysis of the distal phalanx of the 3rd toe |
| HP:0009250 | Absent epiphysis of the distal phalanx of the 4th finger |
| HP:0100169 | Absent epiphysis of the distal phalanx of the 4th toe |
| HP:0003696 | Absent epiphysis of the distal phalanx of the 5th finger |
| HP:0100202 | Absent epiphysis of the distal phalanx of the 5th toe |
| HP:0010138 | Absent epiphysis of the distal phalanx of the hallux |
| HP:0009675 | Absent epiphysis of the distal phalanx of the thumb |
| HP:0009513 | Absent epiphysis of the middle phalanx of the 2nd finger |
| HP:0100111 | Absent epiphysis of the middle phalanx of the 2nd toe |
| HP:0009321 | Absent epiphysis of the middle phalanx of the 3rd finger |
| HP:0100146 | Absent epiphysis of the middle phalanx of the 3rd toe |
| HP:0009214 | Absent epiphysis of the middle phalanx of the 4th finger |
| HP:0100180 | Absent epiphysis of the middle phalanx of the 4th toe |
| HP:0009203 | Absent epiphysis of the middle phalanx of the 5th finger |
| HP:0100213 | Absent epiphysis of the middle phalanx of the 5th toe |
| HP:0009524 | Absent epiphysis of the proximal phalanx of the 2nd finger |
| HP:0100122 | Absent epiphysis of the proximal phalanx of the 2nd toe |
| HP:0009346 | Absent epiphysis of the proximal phalanx of the 3rd finger |
| HP:0100157 | Absent epiphysis of the proximal phalanx of the 3rd toe |
| HP:0009261 | Absent epiphysis of the proximal phalanx of the 4th finger |
| HP:0100191 | Absent epiphysis of the proximal phalanx of the 4th toe |
| HP:0009160 | Absent epiphysis of the proximal phalanx of the 5th finger |
| HP:0100224 | Absent epiphysis of the proximal phalanx of the 5th toe |
| HP:0010127 | Absent epiphysis of the proximal phalanx of the hallux |
| HP:0009664 | Absent epiphysis of the proximal phalanx of the thumb |
| HP:0005456 | Absent ethmoidal sinuses |
| HP:0000042 | Absent external genitalia |
| HP:0007886 | Absent extraocular muscles |
| HP:0002223 | Absent eyebrow |
| HP:0000561 | Absent eyelashes |
| HP:0002550 | Absent facial hair |
| HP:0200104 | Absent fifth fingernail |
| HP:0008079 | Absent fifth metatarsal |
| HP:0200105 | Absent fifth toenail |
| HP:0001817 | Absent fingernail |
| HP:0010104 | Absent first metatarsal |
| HP:0011301 | Absent foot |
| HP:0005632 | Absent forearm |
| HP:0003953 | Absent forearm bone |
| HP:0005780 | Absent fourth finger distal interphalangeal crease |
| HP:0030825 | Absent foveal reflex |
| HP:0002688 | Absent frontal sinuses |
| HP:0011467 | Absent gallbladder |
| HP:0006591 | Absent glenoid fossa |
| HP:0008633 | Absent gonadal tissue |
| HP:0002298 | Absent hair |
| HP:0012386 | Absent hallux |
| HP:0010113 | Absent hallux epiphysis |
| HP:0004050 | Absent hand |
| HP:0003892 | Absent humeral epiphyseal ossification |
| HP:0003862 | Absent humerus |
| HP:0008435 | Absent in utero ossification of vertebral bodies |
| HP:0006615 | Absent in utero rib ossification |
| HP:0012259 | Absent inner and outer dynein arms |
| HP:0012257 | Absent inner dynein arms |
| HP:0007708 | Absent inner eyelashes |
| HP:0011385 | Absent internal auditory canal |
| HP:0008702 | Absent internal genitalia |
| HP:0006400 | Absent knee epiphyses |
| HP:0001092 | Absent lacrimal punctum |
| HP:0009112 | Absent left hemidiaphragm |
| HP:0011547 | Absent left sided atrioventricular connection |
| HP:0008161 | Absent leukocyte alkaline phosphatase |
| HP:0007646 | Absent lower eyelashes |
| HP:0030805 | Absent lunula |
| HP:0011455 | Absent malleus |
| HP:0012761 | Absent mastoid |
| HP:0007265 | Absent mesencephalon |
| HP:0009196 | Absent metacarpal epiphyses |
| HP:0010744 | Absent metatarsal bone |
| HP:0002971 | Absent microvilli on the surface of peripheral blood lymphocytes |
| HP:0009576 | Absent middle phalanx of 2nd finger |
| HP:0009438 | Absent middle phalanx of 3rd finger |
| HP:0009294 | Absent middle phalanx of 4th finger |
| HP:0009162 | Absent middle phalanx of 5th finger |
| HP:0100381 | Absent middle phalanx of the 3rd toe |
| HP:0030097 | Absent muscle dystrophin expression |
| HP:0030101 | Absent muscle fiber alpha sarcoglycan |
| HP:0030106 | Absent muscle fiber beta sarcoglyan |
| HP:0030120 | Absent muscle fiber calpain-3 |
| HP:0030110 | Absent muscle fiber delta sarcoglycan |
| HP:0030114 | Absent muscle fiber dysferlin |
| HP:0030117 | Absent muscle fiber emerin |
| HP:0030109 | Absent muscle fiber gamma sarcoglycan |
| HP:0030091 | Absent muscle fiber merosin |
| HP:0012555 | Absent nail of hallux |
| HP:0100596 | Absent nares |
| HP:0005285 | Absent nasal bridge |
| HP:0030028 | Absent nasal cartilage |
| HP:0005273 | Absent nasal septal cartilage |
| HP:0040219 | Absent natural killer cells |
| HP:0012551 | Absent neutrophil specific granules |
| HP:0002561 | Absent nipple |
| HP:0004599 | Absent or minimally ossified vertebral bodies |
| HP:0005623 | Absent ossification of calvaria |
| HP:0008820 | Absent ossification of capital femoral epiphysis |
| HP:0005885 | Absent ossification of cervical vertebral bodies |
| HP:0045002 | Absent ossification of the trapezium |
| HP:0012792 | Absent ossification of thoracic vertebral bodies |
| HP:0012256 | Absent outer dynein arms |
| HP:0430013 | Absent palatine bone ossification |
| HP:0010489 | Absent palmar crease |
| HP:0002689 | Absent paranasal sinuses |
| HP:0006844 | Absent patellar reflexes |
| HP:0030261 | Absent penis |
| HP:0006109 | Absent phalangeal crease |
| HP:0040007 | Absent pigmentation of chest |
| HP:0012319 | Absent pigmentation of the abdomen |
| HP:0012320 | Absent pigmentation of the limbs |
| HP:0007542 | Absent pigmentation of the ventral chest |
| HP:0003332 | Absent primary metaphyseal spongiosa |
| HP:0006077 | Absent proximal finger flexion creases |
| HP:0100384 | Absent proximal phalanx of the 3rd toe |
| HP:0009637 | Absent proximal phalanx of thumb |
| HP:0005093 | Absent proximal radial epiphyses |
| HP:0002555 | Absent pubic hair |
| HP:0004960 | Absent pulmonary artery |
| HP:0003974 | Absent radius |
| HP:0030030 | Absent ray |
| HP:0012267 | Absent respiratory ciliary axoneme radial spokes |
| HP:0007980 | Absent retinal pigment epithelium |
| HP:0011548 | Absent right sided atrioventricular connection |
| HP:0011666 | Absent right superior vena cava |
| HP:0011835 | Absent scaphoid |
| HP:0008707 | Absent scrotum |
| HP:0001331 | Absent septum pellucidum |
| HP:0200098 | Absent skin pigmentation |
| HP:0007179 | Absent smooth pursuit |
| HP:0005424 | Absent specific antibody response |
| HP:0001344 | Absent speech |
| HP:0008464 | Absent spinous processes of lower thoracic and lumbar vertebrae |
| HP:0011456 | Absent stapes |
| HP:0200111 | Absent stapes head |
| HP:0006628 | Absent sternal ossification |
| HP:0005068 | Absent styloid process of ulna |
| HP:0010469 | Absent testis |
| HP:0009777 | Absent thumb |
| HP:0012554 | Absent thumbnail |
| HP:0009556 | Absent tibia |
| HP:0010760 | Absent toe |
| HP:0001802 | Absent toenail |
| HP:0030813 | Absent tonsils |
| HP:0011268 | Absent tragus |
| HP:0004253 | Absent trapezium |
| HP:0006106 | Absent trapezoid bone |
| HP:0003982 | Absent ulna |
| HP:0040056 | Absent upper eyelashes |
| HP:0003606 | Absent urinary urothione |
| HP:0010292 | Absent uvula |
| HP:0012873 | Absent vas deferens |
| HP:0008465 | Absent vertebrae |
| HP:0004605 | Absent vertebral body mineralization |
| HP:0008555 | Absent vestibular function |
| HP:0008436 | Absent/hypoplastic coccyx |
| HP:0005453 | Absent/hypoplastic paranasal sinuses |
| HP:0200106 | Absent/shortened dynein arms |
| HP:0200109 | Absent/shortened outer dynein arms |
| HP:0012671 | Abulia |
| HP:0001927 | Acanthocytosis |
| HP:0100792 | Acantholysis |
| HP:0000956 | Acanthosis nigricans |
| HP:0004943 | Accelerated atherosclerosis |
| HP:0002805 | Accelerated bone age after puberty |
| HP:0005616 | Accelerated skeletal maturation |
| HP:0004232 | Accessory carpal bones |
| HP:0012800 | Accessory cranial suture |
| HP:0100030 | Accessory ectopic thyroid tissue |
| HP:0430008 | Accessory eyelid |
| HP:0004249 | Accessory lunate |
| HP:0000191 | Accessory oral frenulum |
| HP:0004244 | Accessory scaphoid |
| HP:0030274 | Accessory scrotum |
| HP:0001747 | Accessory spleen |
| HP:0001008 | Accumulation of melanosomes in melanocytes |
| HP:0030225 | Accumulation of muscle fiber desmin |
| HP:0030227 | Accumulation of muscle fiber myotilin |
| HP:0030229 | Accumulation of muscle fiber valosin-containing protein |
| HP:0012869 | Acephalic spermatozoa |
| HP:0008807 | Acetabular dysplasia |
| HP:0010454 | Acetabular spurs |
| HP:0030208 | Acetylcholine receptor antibody positivity |
| HP:0002571 | Achalasia |
| HP:0001771 | Achilles tendon contracture |
| HP:0025273 | Achilles tendonitis |
| HP:0011985 | Acholic stools |
| HP:0009727 | Achromatic retinal patches |
| HP:0011516 | Achromatopsia |
| HP:0001941 | Acidosis |
| HP:0012072 | Aciduria |
| HP:0001061 | Acne |
| HP:0040154 | Acne inversa |
| HP:0011360 | Acquired abnormal hair pattern |
| HP:0001226 | Acral ulceration and osteomyelitis leading to autoamputation of digits |
| HP:0001862 | Acral ulceration and osteomyelitis leading to autoamputation of the digits (feet) |
| HP:0006121 | Acral ulceration leading to autoamputation of digits |
| HP:0030716 | Acrania |
| HP:0004487 | Acrobrachycephaly |
| HP:0001063 | Acrocyanosis |
| HP:0200016 | Acrokeratosis |
| HP:0010884 | Acromelia |
| HP:0010494 | Acromelia of the lower limbs |
| HP:0010482 | Acromelia of the upper limbs |
| HP:0003086 | Acromesomelia |
| HP:0001870 | Acroosteolysis of distal phalanges (feet) |
| HP:0002345 | Action tremor |
| HP:0011790 | Activating thyroid-stimulating hormone receptor defect |
| HP:0010926 | Aculeiform cataract |
| HP:0011952 | Acute aspiration pneumonia |
| HP:0012388 | Acute bronchitis |
| HP:0100282 | Acute colitis |
| HP:0012451 | Acute constipation |
| HP:0007131 | Acute demyelinating polyneuropathy |
| HP:0011880 | Acute disseminated intravascular coagulation |
| HP:0006846 | Acute encephalopathy |
| HP:0003489 | Acute episodes of neuropathic symptoms |
| HP:0011128 | Acute esophageal necrosis |
| HP:0006554 | Acute hepatic failure |
| HP:0006573 | Acute hepatic steatosis |
| HP:0200119 | Acute hepatitis |
| HP:0008281 | Acute hyperammonemia |
| HP:0007280 | Acute infantile spinal muscular atrophy |
| HP:0011949 | Acute infectious pneumonia |
| HP:0001919 | Acute kidney injury |
| HP:0006965 | Acute necrotizing encephalopathy |
| HP:0000371 | Acute otitis media |
| HP:0001735 | Acute pancreatitis |
| HP:0012467 | Acute respiratory acidosis |
| HP:0011948 | Acute respiratory tract infection |
| HP:0008942 | Acute rhabdomyolysis |
| HP:0000255 | Acute sinusitis |
| HP:0008682 | Acute tubular necrosis |
| HP:0004729 | Acute tubulointerstitial nephritis |
| HP:0009776 | Adactyly |
| HP:0030858 | Addictive behavior |
| HP:0011235 | Additional crus of antihelix |
| HP:0001181 | Adducted thumb |
| HP:0006366 | Adductor longus contractures |
| HP:0007455 | Adermatoglyphia |
| HP:0030759 | Adipocyte hypertrophy |
| HP:0008887 | Adipose tissue loss |
| HP:0010512 | Adrenal calcification |
| HP:0011743 | Adrenal gland agenesis |
| HP:0008216 | Adrenal gland dysgenesis |
| HP:0008221 | Adrenal hyperplasia |
| HP:0000835 | Adrenal hypoplasia |
| HP:0000846 | Adrenal insufficiency |
| HP:0008239 | Adrenal medullary hypoplasia |
| HP:0002717 | Adrenal overactivity |
| HP:0000849 | Adrenocortical abnormality |
| HP:0008186 | Adrenocortical cytomegaly |
| HP:0008182 | Adrenocortical hypoplasia |
| HP:0011748 | Adrenocorticotropic hormone deficiency |
| HP:0011749 | Adrenocorticotropic hormone excess |
| HP:0011735 | Adrenocorticotropin deficient adrenal insufficiency |
| HP:0008259 | Adrenocorticotropin receptor defect |
| HP:0000840 | Adrenogenital syndrome |
| HP:0008615 | Adult onset sensorineural hearing impairment |
| HP:0007830 | Adult-onset night blindness |
| HP:0006288 | Advanced eruption of teeth |
| HP:0004233 | Advanced ossification of carpal bones |
| HP:0004051 | Advanced ossification of the hand bones |
| HP:0003893 | Advanced ossification of the humeral epiphysis |
| HP:0010540 | Advanced pneumatization of cranial sinuses |
| HP:0010724 | Advanced pneumatization of the mastoid process |
| HP:0008108 | Advanced tarsal ossification |
| HP:0012003 | Affective auras |
| HP:0004432 | Agammaglobulinemia |
| HP:0002251 | Aganglionic megacolon |
| HP:0011464 | Aganglionosis of the small intestine |
| HP:0011141 | Age-related cataract |
| HP:0011143 | Age-related cortical cataract |
| HP:0007868 | Age-related macular degeneration |
| HP:0011142 | Age-related nuclear cataract |
| HP:0011144 | Age-related posterior subcapsular cataract |
| HP:0008509 | Aged leonine appearance |
| HP:0012738 | Agenesis of canine |
| HP:0006289 | Agenesis of central incisor |
| HP:0002335 | Agenesis of cerebellar vermis |
| HP:0001274 | Agenesis of corpus callosum |
| HP:0011056 | Agenesis of first permanent molar tooth |
| HP:0006485 | Agenesis of incisor |
| HP:0200153 | Agenesis of lateral incisor |
| HP:0006355 | Agenesis of mandibular central incisor |
| HP:0200161 | Agenesis of mandibular incisor |
| HP:0200154 | Agenesis of mandibular lateral incisor |
| HP:0011053 | Agenesis of mandibular premolar |
| HP:0006293 | Agenesis of maxillary central incisor |
| HP:0200160 | Agenesis of maxillary incisor |
| HP:0000690 | Agenesis of maxillary lateral incisor |
| HP:0011052 | Agenesis of maxillary premolar |
| HP:0011054 | Agenesis of molar |
| HP:0011048 | Agenesis of permanent mandibular central incisor |
| HP:0200158 | Agenesis of permanent mandibular lateral incisor |
| HP:0011045 | Agenesis of permanent maxillary central incisor |
| HP:0011050 | Agenesis of permanent maxillary lateral incisor |
| HP:0011055 | Agenesis of permanent molar |
| HP:0006349 | Agenesis of permanent teeth |
| HP:0012687 | Agenesis of pineal gland |
| HP:0011051 | Agenesis of premolar |
| HP:0011047 | Agenesis of primary mandibular central incisor |
| HP:0200159 | Agenesis of primary mandibular lateral incisor |
| HP:0011046 | Agenesis of primary maxillary central incisor |
| HP:0011049 | Agenesis of primary maxillary lateral incisor |
| HP:0005311 | Agenesis of pulmonary vessels |
| HP:0011057 | Agenesis of second permanent molar |
| HP:0030302 | Agenesis of the anterior commissure |
| HP:0008986 | Agenesis of the diaphragm |
| HP:0012739 | Agenesis of the small intestine |
| HP:0000718 | Aggressive behavior |
| HP:0000713 | Agitation |
| HP:0012730 | Aglossia |
| HP:0010524 | Agnosia |
| HP:0000756 | Agoraphobia |
| HP:0012234 | Agranulocytosis |
| HP:0011812 | Agraphesthesia |
| HP:0002304 | Akinesia |
| HP:0012672 | Akinetic mutism |
| HP:0000522 | Alacrima |
| HP:0001022 | Albinism |
| HP:0012592 | Albuminuria |
| HP:0011440 | Alcohol-induced rhabdomyolysis |
| HP:0030955 | Alcoholism |
| HP:0002932 | Aldehyde oxidase deficiency |
| HP:0010523 | Alexia |
| HP:0001948 | Alkalosis |
| HP:0030754 | Allantoic cyst |
| HP:0007879 | Allergic conjunctivitis |
| HP:0003193 | Allergic rhinitis |
| HP:0012393 | Allergy |
| HP:0012533 | Allodynia |
| HP:0007874 | Almond-shaped palpebral fissure |
| HP:0006988 | Alobar holoprosencephaly |
| HP:0001596 | Alopecia |
| HP:0002229 | Alopecia areata |
| HP:0002293 | Alopecia of scalp |
| HP:0007418 | Alopecia totalis |
| HP:0002289 | Alopecia universalis |
| HP:0011178 | Alpha-EEG |
| HP:0001137 | Alternating esotropia |
| HP:0030531 | Altitudinal visual field defect |
| HP:0006329 | Alveolar process hypoplasia |
| HP:0006517 | Alveolar proteinosis |
| HP:0010289 | Alveolar ridge cleft |
| HP:0009085 | Alveolar ridge overgrowth |
| HP:0002511 | Alzheimer disease |
| HP:0100576 | Amaurosis fugax |
| HP:0011552 | Ambiguous atrioventricular connection |
| HP:0000062 | Ambiguous genitalia |
| HP:0000061 | Ambiguous genitalia, female |
| HP:0000033 | Ambiguous genitalia, male |
| HP:0000646 | Amblyopia |
| HP:0004859 | Amegakaryocytic thrombocytopenia |
| HP:0009827 | Amelia |
| HP:0009818 | Amelia involving the lower limbs |
| HP:0009812 | Amelia involving the upper limbs |
| HP:0000705 | Amelogenesis imperfecta |
| HP:0000141 | Amenorrhea |
| HP:0003355 | Aminoaciduria |
| HP:0011975 | Aminoglycoside-induced hearing loss |
| HP:0009775 | Amniotic constriction ring |
| HP:0010483 | Amniotic constriction rings of arms |
| HP:0010495 | Amniotic constriction rings of legs |
| HP:0030763 | Amniotic Sheet |
| HP:0100566 | Amyelia |
| HP:0007841 | Amyloid deposition in the vitreous humor |
| HP:0011034 | Amyloidosis |
| HP:0100292 | Amyloidosis of peripheral nerves |
| HP:0200126 | Amyolid cardiomyopathy |
| HP:0003634 | Amyoplasia |
| HP:0007354 | Amyotrophic lateral sclerosis |
| HP:0001465 | Amyotrophy involving the shoulder musculature |
| HP:0009031 | Amyotrophy of ankle musculature |
| HP:0003665 | Amyotrophy of the musculature of the pelvis |
| HP:0002023 | Anal atresia |
| HP:0012390 | Anal fissure |
| HP:0010447 | Anal fistula |
| HP:0030443 | Anal margin basal cell carcinoma |
| HP:0030444 | Anal margin melanoma |
| HP:0030440 | Anal margin neoplasm |
| HP:0030441 | Anal margin Paget's disease |
| HP:0030442 | Anal margin squamous cell carcinoma |
| HP:0005212 | Anal mucosal leukoplakia |
| HP:0002025 | Anal stenosis |
| HP:0100845 | Anaphylactic shock |
| HP:0002425 | Anarthria |
| HP:0012050 | Anasarca |
| HP:0008226 | Androgen insufficiency |
| HP:0012879 | Anejaculation |
| HP:0001903 | Anemia |
| HP:0011895 | Anemia due to reduced life span of red cells |
| HP:0010972 | Anemia of inadequate production |
| HP:0001017 | Anemic pallor |
| HP:0002323 | Anencephaly |
| HP:0011439 | Anesthetic-induced rhabdomylosis |
| HP:0002617 | Aneurysm |
| HP:0002636 | Aneurysm of an abdominal artery |
| HP:0012063 | Aneurysmal bone cyst |
| HP:0001681 | Angina pectoris |
| HP:0100665 | Angioedema |
| HP:0001102 | Angioid streaks of the retina |
| HP:0001014 | Angiokeratoma |
| HP:0001071 | Angiokeratoma corporis diffusum |
| HP:0025108 | Angioma serpentinum |
| HP:0030318 | Angular cheilitis |
| HP:0011236 | Angulated antihelix |
| HP:0003954 | Angulated forearm bones |
| HP:0003863 | Angulated humerus |
| HP:0012154 | Anhedonia |
| HP:0000970 | Anhidrosis |
| HP:0007476 | Anhidrotic ectodermal dysplasia |
| HP:0000526 | Aniridia |
| HP:0009916 | Anisocoria |
| HP:0011273 | Anisocytosis |
| HP:0012803 | Anisometropia |
| HP:0004823 | Anisopoikilocytosis |
| HP:0002879 | Anisospondyly |
| HP:0011448 | Ankle clonus |
| HP:0006466 | Ankle contracture |
| HP:0030840 | Ankle pain |
| HP:0001785 | Ankle swelling |
| HP:0009755 | Ankyloblepharon |
| HP:0010296 | Ankyloglossia |
| HP:0008090 | Ankylosis of feet small joints |
| HP:0001734 | Annular pancreas |
| HP:0000674 | Anodontia |
| HP:0005314 | Anomalous branches of internal carotid artery |
| HP:0030740 | Anomalous muscle bundle of the right ventricle |
| HP:0011637 | Anomalous origin of coronary artery from the pulmonary artery |
| HP:0011638 | Anomalous origin of left coronary artery from the pulmonary artery |
| HP:0011661 | Anomalous origin of left pulmonary artery from ascending aorta |
| HP:0011660 | Anomalous origin of one pulmonary artery from ascending aorta |
| HP:0011639 | Anomalous origin of right coronary artery from the pulmonary artery |
| HP:0005143 | Anomalous origin of right pulmonary artery from ascending aorta |
| HP:0010772 | Anomalous pulmonary venous return |
| HP:0006593 | Anomalous rib insertion to vertebrae |
| HP:0005201 | Anomalous splenoportal venous system |
| HP:0004468 | Anomalous tracheal cartilage |
| HP:0011519 | Anomalous trichromacy |
| HP:0012699 | Anomaly of lower limb diaphyses |
| HP:0006504 | Anomaly of the limb diaphyses |
| HP:0009808 | Anomaly of the upper limb diaphyses |
| HP:0030784 | Anomia |
| HP:0001798 | Anonychia |
| HP:0005218 | Anoperineal fistula |
| HP:0000528 | Anophthalmia |
| HP:0030869 | Anorchism |
| HP:0012732 | Anorectal anomaly |
| HP:0002039 | Anorexia |
| HP:0000458 | Anosmia |
| HP:0009892 | Anotia |
| HP:0009760 | Antecubital pterygium |
| HP:0003779 | Antegonial notching of mandible |
| HP:0007023 | Antenatal intracerebral hemorrhage |
| HP:0025328 | Antepartum hemorrhage |
| HP:0005678 | Anterior atlanto-occipital dislocation |
| HP:0006992 | Anterior basal encephalocele |
| HP:0004607 | Anterior beaking of lower thoracic vertebrae |
| HP:0008430 | Anterior beaking of lumbar vertebrae |
| HP:0004630 | Anterior beaking of thoracic vertebrae |
| HP:0006473 | Anterior bowing of long bones |
| HP:0012494 | Anterior cerebral artery stenosis |
| HP:0004535 | Anterior cervical hypertrichosis |
| HP:0025311 | Anterior chamber cyst |
| HP:0007833 | Anterior chamber synechiae |
| HP:0009761 | Anterior clefting of vertebral bodies |
| HP:0004611 | Anterior concavity of thoracic vertebrae |
| HP:0007795 | Anterior cortical cataract |
| HP:0009908 | Anterior creases of earlobe |
| HP:0007035 | Anterior encephalocele |
| HP:0000830 | Anterior hypopituitarism |
| HP:0011501 | Anterior lenticonus |
| HP:0200095 | Anterior open bite |
| HP:0009102 | Anterior open-bite malocclusion |
| HP:0010626 | Anterior pituitary agenesis |
| HP:0010625 | Anterior pituitary dysgenesis |
| HP:0010627 | Anterior pituitary hypoplasia |
| HP:0011326 | Anterior plagiocephaly |
| HP:0001134 | Anterior polar cataract |
| HP:0010697 | Anterior pyramidal cataract |
| HP:0005084 | Anterior radial head dislocation |
| HP:0000907 | Anterior rib cupping |
| HP:0006619 | Anterior rib punctate calcifications |
| HP:0008488 | Anterior rounding of vertebral bodies |
| HP:0007293 | Anterior sacral meningocele |
| HP:0004580 | Anterior scalloping of vertebral bodies |
| HP:0007700 | Anterior segment dysgenesis |
| HP:0007779 | Anterior segment of eye aplasia |
| HP:0030855 | Anterior staphyloma |
| HP:0010923 | Anterior subcapsular cataract |
| HP:0011483 | Anterior synechiae of the anterior chamber |
| HP:0006390 | Anterior tibial bowing |
| HP:0012122 | Anterior uveitis |
| HP:0004557 | Anterior vertebral fusion |
| HP:0008432 | Anterior wedging of L1 |
| HP:0011941 | Anterior wedging of L2 |
| HP:0004573 | Anterior wedging of T11 |
| HP:0011940 | Anterior wedging of T12 |
| HP:0003252 | Anteriorly displaced genitalia |
| HP:0008648 | Anteriorly displaced urethral meatus |
| HP:0001545 | Anteriorly placed anus |
| HP:0004608 | Anteriorly placed odontoid process |
| HP:0005050 | Anterolateral radial head dislocation |
| HP:0005956 | Anteroposteriorly shortened larynx |
| HP:0040080 | Anteverted ears |
| HP:0000463 | Anteverted nares |
| HP:0025329 | Anti-glutamic acid decarboxylase antibody positivity |
| HP:0030909 | Anti-liver cytosolic antigen type 1 antibody positivity |
| HP:0025353 | Anti-multiple nuclear dots antibody positivity |
| HP:0030873 | Anticentromere antibody positivity |
| HP:0011233 | Antihelical shelf |
| HP:0030167 | Antimitochondrial antibody positivity |
| HP:0003453 | Antineutrophil antibody positivity |
| HP:0003493 | Antinuclear antibody positivity |
| HP:0003613 | Antiphospholipid antibody positivity |
| HP:0100519 | Anuria |
| HP:0000739 | Anxiety |
| HP:0004942 | Aortic aneurysm |
| HP:0005303 | Aortic arch calcification |
| HP:0012397 | Aortic atherosclerosis |
| HP:0001724 | Aortic dilatation |
| HP:0002647 | Aortic dissection |
| HP:0001659 | Aortic regurgitation |
| HP:0002616 | Aortic root dilatation |
| HP:0006687 | Aortic tortuosity |
| HP:0010883 | Aortic valve atresia |
| HP:0004380 | Aortic valve calcification |
| HP:0001650 | Aortic valve stenosis |
| HP:0011627 | Aorto-ventricular tunnel |
| HP:0011604 | Aortopulmonary window |
| HP:0000741 | Apathy |
| HP:0200113 | Aphalangy of hands and feet |
| HP:0005886 | Aphalangy of the hands |
| HP:0002381 | Aphasia |
| HP:0011624 | Apical muscular ventricular septal defect |
| HP:0001057 | Aplasia cutis congenita |
| HP:0007536 | Aplasia cutis congenita of midline scalp vertex |
| HP:0007385 | Aplasia cutis congenita of scalp |
| HP:0007589 | Aplasia cutis congenita on trunk or limbs |
| HP:0004476 | Aplasia cutis congenita over parietal area |
| HP:0007590 | Aplasia cutis congenita over posterior parietal area |
| HP:0004471 | Aplasia cutis congenita over the scalp vertex |
| HP:0009825 | Aplasia involving bones of the extremities |
| HP:0009817 | Aplasia involving bones of the lower limbs |
| HP:0009823 | Aplasia involving bones of the upper limbs |
| HP:0009822 | Aplasia involving forearm bones |
| HP:0040008 | Aplasia of facial bones |
| HP:0045006 | Aplasia of lymphatic vessels |
| HP:0010048 | Aplasia of metacarpal bones |
| HP:0010035 | Aplasia of the 1st metacarpal |
| HP:0009535 | Aplasia of the 2nd finger |
| HP:0010037 | Aplasia of the 2nd metacarpal |
| HP:0009460 | Aplasia of the 3rd finger |
| HP:0010040 | Aplasia of the 3rd metacarpal |
| HP:0009281 | Aplasia of the 4th finger |
| HP:0010043 | Aplasia of the 4th metacarpal |
| HP:0009238 | Aplasia of the 5th finger |
| HP:0010046 | Aplasia of the 5th metacarpal |
| HP:0005199 | Aplasia of the abdominal wall musculature |
| HP:0010477 | Aplasia of the bladder |
| HP:0009881 | Aplasia of the distal phalanges of the hand |
| HP:0010645 | Aplasia of the distal phalanges of the toes |
| HP:0009565 | Aplasia of the distal phalanx of the 2nd finger |
| HP:0009429 | Aplasia of the distal phalanx of the 3rd finger |
| HP:0009291 | Aplasia of the distal phalanx of the 4th finger |
| HP:0100379 | Aplasia of the distal phalanx of the 4th toe |
| HP:0009246 | Aplasia of the distal phalanx of the 5th finger |
| HP:0100380 | Aplasia of the distal phalanx of the 5th toe |
| HP:0010102 | Aplasia of the distal phalanx of the hallux |
| HP:0009649 | Aplasia of the distal phalanx of the thumb |
| HP:0040042 | Aplasia of the eccrine sweat glands |
| HP:0008753 | Aplasia of the epiglottis |
| HP:0040116 | Aplasia of the Eustachian tube |
| HP:0010654 | Aplasia of the falx cerebri |
| HP:0100862 | Aplasia of the femoral head |
| HP:0100863 | Aplasia of the femoral neck |
| HP:0009380 | Aplasia of the fingers |
| HP:0011503 | Aplasia of the fovea |
| HP:0007063 | Aplasia of the inferior half of the cerebellar vermis |
| HP:0011372 | Aplasia of the inner ear |
| HP:0040048 | Aplasia of the left hemidiaphragm |
| HP:0012674 | Aplasia of the lower vagina |
| HP:0010667 | Aplasia of the maxilla |
| HP:0009910 | Aplasia of the middle ear ossicles |
| HP:0100387 | Aplasia of the middle phalanges of the toes |
| HP:0010434 | Aplasia of the middle phalanx of the 2nd toe |
| HP:0100382 | Aplasia of the middle phalanx of the 4th toe |
| HP:0100383 | Aplasia of the middle phalanx of the 5th toe |
| HP:0010239 | Aplasia of the middle phalanx of the hand |
| HP:0100854 | Aplasia of the musculature |
| HP:0010941 | Aplasia of the nasal bone |
| HP:0009927 | Aplasia of the nose |
| HP:0010999 | Aplasia of the optic tract |
| HP:0010463 | Aplasia of the ovary |
| HP:0009740 | Aplasia of the parotid gland |
| HP:0009751 | Aplasia of the pectoralis major muscle |
| HP:0010430 | Aplasia of the phalanges of the 2nd toe |
| HP:0100362 | Aplasia of the phalanges of the 3rd toe |
| HP:0100363 | Aplasia of the phalanges of the 4th toe |
| HP:0100364 | Aplasia of the phalanges of the 5th toe |
| HP:0010110 | Aplasia of the phalanges of the hallux |
| HP:0009802 | Aplasia of the phalanges of the hand |
| HP:0010745 | Aplasia of the phalanges of the toes |
| HP:0010757 | Aplasia of the premaxilla |
| HP:0010242 | Aplasia of the proximal phalanges of the hand |
| HP:0100388 | Aplasia of the proximal phalanges of the toes |
| HP:0009596 | Aplasia of the proximal phalanx of the 2nd finger |
| HP:0010436 | Aplasia of the proximal phalanx of the 2nd toe |
| HP:0009458 | Aplasia of the proximal phalanx of the 3rd finger |
| HP:0009298 | Aplasia of the proximal phalanx of the 4th finger |
| HP:0100385 | Aplasia of the proximal phalanx of the 4th toe |
| HP:0009225 | Aplasia of the proximal phalanx of the 5th finger |
| HP:0100386 | Aplasia of the proximal phalanx of the 5th toe |
| HP:0010106 | Aplasia of the proximal phalanx of the hallux |
| HP:0100322 | Aplasia of the pyramidal tract |
| HP:0010728 | Aplasia of the retina |
| HP:0011381 | Aplasia of the semicircular canal |
| HP:0011136 | Aplasia of the sweat glands |
| HP:0010509 | Aplasia of the tarsal bones |
| HP:0005359 | Aplasia of the thymus |
| HP:0012673 | Aplasia of the upper vagina |
| HP:0000151 | Aplasia of the uterus |
| HP:0003250 | Aplasia of the vagina |
| HP:0011393 | Aplasia of the vestibular nerve. |
| HP:0011377 | Aplasia of the vestibule |
| HP:0009122 | Aplasia/hypoplasia affecting bones of the axial skeleton |
| HP:0008062 | Aplasia/Hypoplasia affecting the anterior segment of the eye |
| HP:0008056 | Aplasia/Hypoplasia affecting the eye |
| HP:0008057 | Aplasia/Hypoplasia affecting the fundus |
| HP:0008055 | Aplasia/Hypoplasia affecting the uvea |
| HP:0045060 | Aplasia/hypoplasia involving bones of the extremities |
| HP:0006494 | Aplasia/Hypoplasia involving bones of the feet |
| HP:0005927 | Aplasia/hypoplasia involving bones of the hand |
| HP:0006493 | Aplasia/hypoplasia involving bones of the lower limbs |
| HP:0009116 | Aplasia/Hypoplasia involving bones of the skull |
| HP:0006711 | Aplasia/Hypoplasia involving bones of the thorax |
| HP:0006496 | Aplasia/hypoplasia involving bones of the upper limbs |
| HP:0006503 | Aplasia/hypoplasia involving forearm bones |
| HP:0006502 | Aplasia/Hypoplasia involving the carpal bones |
| HP:0002977 | Aplasia/Hypoplasia involving the central nervous system |
| HP:0007365 | Aplasia/Hypoplasia involving the corticospinal tracts |
| HP:0009108 | Aplasia/Hypoplasia involving the femoral head and neck |
| HP:0005914 | Aplasia/Hypoplasia involving the metacarpal bones |
| HP:0009128 | Aplasia/Hypoplasia involving the musculature of the extremities |
| HP:0001468 | Aplasia/Hypoplasia involving the musculature of the upper arm |
| HP:0001467 | Aplasia/Hypoplasia involving the musculature of the upper limbs |
| HP:0009924 | Aplasia/Hypoplasia involving the nose |
| HP:0009103 | Aplasia/Hypoplasia involving the pelvis |
| HP:0001464 | Aplasia/Hypoplasia involving the shoulder musculature |
| HP:0009120 | Aplasia/Hypoplasia involving the sinuses |
| HP:0001460 | Aplasia/Hypoplasia involving the skeletal musculature |
| HP:0009115 | Aplasia/hypoplasia involving the skeleton |
| HP:0008518 | Aplasia/Hypoplasia involving the vertebral column |
| HP:0006265 | Aplasia/Hypoplasia of fingers |
| HP:0001964 | Aplasia/Hypoplasia of metatarsal bones |
| HP:0010203 | Aplasia/hypoplasia of proximal toe phalanx |
| HP:0010026 | Aplasia/Hypoplasia of the 1st metacarpal |
| HP:0010067 | Aplasia/hypoplasia of the 1st metatarsal |
| HP:0006264 | Aplasia/Hypoplasia of the 2nd finger |
| HP:0010036 | Aplasia/Hypoplasia of the 2nd metacarpal |
| HP:0010325 | Aplasia/Hypoplasia of the 2nd toe |
| HP:0009318 | Aplasia/Hypoplasia of the 3rd finger |
| HP:0010039 | Aplasia/Hypoplasia of the 3rd metacarpal |
| HP:0010331 | Aplasia/Hypoplasia of the 3rd toe |
| HP:0009272 | Aplasia/Hypoplasia of the 4th finger |
| HP:0010042 | Aplasia/Hypoplasia of the 4th metacarpal |
| HP:0010337 | Aplasia/Hypoplasia of the 4th toe |
| HP:0006262 | Aplasia/Hypoplasia of the 5th finger |
| HP:0010045 | Aplasia/Hypoplasia of the 5th metacarpal |
| HP:0010343 | Aplasia/Hypoplasia of the 5th toe |
| HP:0010318 | Aplasia/Hypoplasia of the abdominal wall musculature |
| HP:0009782 | Aplasia/Hypoplasia of the biceps |
| HP:0010476 | Aplasia/Hypoplasia of the bladder |
| HP:0007362 | Aplasia/Hypoplasia of the brainstem |
| HP:0010311 | Aplasia/Hypoplasia of the breasts |
| HP:0005003 | Aplasia/Hypoplasia of the capital femoral epiphysis |
| HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis |
| HP:0007360 | Aplasia/Hypoplasia of the cerebellum |
| HP:0012429 | Aplasia/Hypoplasia of the cerebral white matter |
| HP:0007364 | Aplasia/Hypoplasia of the cerebrum |
| HP:0011041 | Aplasia/Hypoplasia of the cervical spine |
| HP:0006710 | Aplasia/Hypoplasia of the clavicles |
| HP:0040255 | Aplasia/Hypoplasia of the clitoris |
| HP:0011395 | Aplasia/Hypoplasia of the cochlea |
| HP:0100811 | Aplasia/Hypoplasia of the colon |
| HP:0007370 | Aplasia/Hypoplasia of the corpus callosum |
| HP:0010315 | Aplasia/Hypoplasia of the diaphragm |
| HP:0009835 | Aplasia/Hypoplasia of the distal phalanges of the hand |
| HP:0010185 | Aplasia/Hypoplasia of the distal phalanges of the toes |
| HP:0009557 | Aplasia/Hypoplasia of the distal phalanx of the 2nd finger |
| HP:0010413 | Aplasia/Hypoplasia of the distal phalanx of the 2nd toe |
| HP:0009421 | Aplasia/Hypoplasia of the distal phalanx of the 3rd finger |
| HP:0100369 | Aplasia/Hypoplasia of the distal phalanx of the 3rd toe |
| HP:0009289 | Aplasia/Hypoplasia of the distal phalanx of the 4th finger |
| HP:0100370 | Aplasia/Hypoplasia of the distal phalanx of the 4th toe |
| HP:0009239 | Aplasia/Hypoplasia of the distal phalanx of the 5th finger |
| HP:0100371 | Aplasia/Hypoplasia of the distal phalanx of the 5th toe |
| HP:0010076 | Aplasia/Hypoplasia of the distal phalanx of the hallux |
| HP:0009641 | Aplasia/Hypoplasia of the distal phalanx of the thumb |
| HP:0008771 | Aplasia/Hypoplasia of the ear |
| HP:0009906 | Aplasia/Hypoplasia of the earlobes |
| HP:0010565 | Aplasia/Hypoplasia of the Epiglottis |
| HP:0008772 | Aplasia/Hypoplasia of the external ear |
| HP:0009815 | Aplasia/hypoplasia of the extremities |
| HP:0100840 | Aplasia/Hypoplasia of the eyebrow |
| HP:0011226 | Aplasia/Hypoplasia of the eyelid |
| HP:0008655 | Aplasia/Hypoplasia of the fallopian tube |
| HP:0005613 | Aplasia/hypoplasia of the femur |
| HP:0006492 | Aplasia/Hypoplasia of the fibula |
| HP:0040033 | Aplasia/Hypoplasia of the fifth metatarsal bone |
| HP:0008060 | Aplasia/Hypoplasia of the fovea |
| HP:0009119 | Aplasia/Hypoplasia of the frontal sinuses |
| HP:0011466 | Aplasia/Hypoplasia of the gallbladder |
| HP:0008362 | Aplasia/Hypoplasia of the hallux |
| HP:0006507 | Aplasia/hypoplasia of the humerus |
| HP:0008774 | Aplasia/Hypoplasia of the inner ear |
| HP:0008053 | Aplasia/Hypoplasia of the iris |
| HP:0008063 | Aplasia/Hypoplasia of the lens |
| HP:0006703 | Aplasia/Hypoplasia of the lungs |
| HP:0008059 | Aplasia/Hypoplasia of the macula |
| HP:0009118 | Aplasia/Hypoplasia of the mandible |
| HP:0009117 | Aplasia/Hypoplasia of the maxilla |
| HP:0008773 | Aplasia/Hypoplasia of the middle ear |
| HP:0009843 | Aplasia/Hypoplasia of the middle phalanges of the hand |
| HP:0010194 | Aplasia/Hypoplasia of the middle phalanges of the toes |
| HP:0009568 | Aplasia/Hypoplasia of the middle phalanx of the 2nd finger |
| HP:0010404 | Aplasia/Hypoplasia of the middle phalanx of the 2nd toe |
| HP:0009437 | Aplasia/Hypoplasia of the middle phalanx of the 3rd finger |
| HP:0100372 | Aplasia/Hypoplasia of the middle phalanx of the 3rd toe |
| HP:0009299 | Aplasia/Hypoplasia of the middle phalanx of the 4th finger |
| HP:0100373 | Aplasia/Hypoplasia of the middle phalanx of the 4th toe |
| HP:0009161 | Aplasia/Hypoplasia of the middle phalanx of the 5th finger |
| HP:0100374 | Aplasia/Hypoplasia of the middle phalanx of the 5th toe |
| HP:0001471 | Aplasia/Hypoplasia of the musculature of the pelvis |
| HP:0009786 | Aplasia/Hypoplasia of the musculature of the thigh |
| HP:0008386 | Aplasia/Hypoplasia of the nails |
| HP:0010940 | Aplasia/Hypoplasia of the nasal bone |
| HP:0009935 | Aplasia/Hypoplasia of the nasal septum |
| HP:0006709 | Aplasia/Hypoplasia of the nipples |
| HP:0008058 | Aplasia/Hypoplasia of the optic nerve |
| HP:0011000 | Aplasia/Hypoplasia of the optic tract |
| HP:0010462 | Aplasia/Hypoplasia of the ovary |
| HP:0010488 | Aplasia/Hypoplasia of the palmar creases |
| HP:0100800 | Aplasia/Hypoplasia of the pancreas |
| HP:0006498 | Aplasia/Hypoplasia of the patella |
| HP:0009552 | Aplasia/Hypoplasia of the phalanges of the 2nd finger |
| HP:0010347 | Aplasia/Hypoplasia of the phalanges of the 2nd toe |
| HP:0009447 | Aplasia/Hypoplasia of the phalanges of the 3rd finger |
| HP:0010359 | Aplasia/Hypoplasia of the phalanges of the 3rd toe |
| HP:0009408 | Aplasia/Hypoplasia of the phalanges of the 4th finger |
| HP:0010371 | Aplasia/Hypoplasia of the phalanges of the 4th toe |
| HP:0009376 | Aplasia/Hypoplasia of the phalanges of the 5th finger |
| HP:0010383 | Aplasia/Hypoplasia of the phalanges of the 5th toe |
| HP:0010058 | Aplasia/Hypoplasia of the phalanges of the hallux |
| HP:0009767 | Aplasia/Hypoplasia of the phalanges of the hand |
| HP:0009658 | Aplasia/Hypoplasia of the phalanges of the thumb |
| HP:0010173 | Aplasia/Hypoplasia of the phalanges of the toes |
| HP:0010756 | Aplasia/Hypoplasia of the premaxilla |
| HP:0009851 | Aplasia/Hypoplasia of the proximal phalanges of the hand |
| HP:0009580 | Aplasia/Hypoplasia of the proximal phalanx of the 2nd finger |
| HP:0010395 | Aplasia/hypoplasia of the proximal phalanx of the 2nd toe |
| HP:0009457 | Aplasia/Hypoplasia of the proximal phalanx of the 3rd finger |
| HP:0100375 | Aplasia/hypoplasia of the proximal phalanx of the 3rd toe |
| HP:0009300 | Aplasia/Hypoplasia of the proximal phalanx of the 4th finger |
| HP:0100376 | Aplasia/hypoplasia of the proximal phalanx of the 4th toe |
| HP:0009192 | Aplasia/Hypoplasia of the proximal phalanx of the 5th finger |
| HP:0100377 | Aplasia/hypoplasia of the proximal phalanx of the 5th toe |
| HP:0010085 | Aplasia/Hypoplasia of the proximal phalanx of the hallux |
| HP:0009629 | Aplasia/Hypoplasia of the proximal phalanx of the thumb |
| HP:0009104 | Aplasia/Hypoplasia of the pubic bone |
| HP:0007363 | Aplasia/Hypoplasia of the pyramidal tract |
| HP:0009787 | Aplasia/Hypoplasia of the quadriceps |
| HP:0006501 | Aplasia/Hypoplasia of the radius |
| HP:0008061 | Aplasia/Hypoplasia of the retina |
| HP:0006712 | Aplasia/Hypoplasia of the ribs |
| HP:0008517 | Aplasia/Hypoplasia of the sacrum |
| HP:0006713 | Aplasia/Hypoplasia of the scapulae |
| HP:0008065 | Aplasia/Hypoplasia of the skin |
| HP:0010451 | Aplasia/Hypoplasia of the spleen |
| HP:0006714 | Aplasia/Hypoplasia of the sternum |
| HP:0011135 | Aplasia/Hypoplasia of the sweat glands |
| HP:0008363 | Aplasia/Hypoplasia of the tarsal bones |
| HP:0010468 | Aplasia/Hypoplasia of the testes |
| HP:0009601 | Aplasia/Hypoplasia of the thumb |
| HP:0010515 | Aplasia/Hypoplasia of the thymus |
| HP:0005772 | Aplasia/Hypoplasia of the tibia |
| HP:0010295 | Aplasia/Hypoplasia of the tongue |
| HP:0009913 | Aplasia/Hypoplasia of the tragus |
| HP:0009784 | Aplasia/Hypoplasia of the triceps |
| HP:0006495 | Aplasia/Hypoplasia of the ulna |
| HP:0008684 | Aplasia/hypoplasia of the uterus |
| HP:0010293 | Aplasia/Hypoplasia of the uvula |
| HP:0011026 | Aplasia/Hypoplasia of the vagina |
| HP:0008515 | Aplasia/Hypoplasia of the vertebrae |
| HP:0001991 | Aplasia/Hypoplasia of toe |
| HP:0007592 | Aplasia/Hypoplastia of the eccrine sweat glands |
| HP:0001915 | Aplastic anemia |
| HP:0006660 | Aplastic clavicles |
| HP:0040259 | Aplastic nasopharyngeal adenoids |
| HP:0008817 | Aplastic pubic bones |
| HP:0008038 | Aplastic/hypoplastic lacrimal glands |
| HP:0040256 | Aplastic/Hypoplastic nasopharyngeal adenoids |
| HP:0010624 | Aplastic/hypoplastic toenail |
| HP:0002104 | Apnea |
| HP:0005949 | Apneic episodes in infancy |
| HP:0002872 | Apneic episodes precipitated by illness, fatigue, stress |
| HP:0012389 | Appendicular hypotonia |
| HP:0002186 | Apraxia |
| HP:0007268 | Aprosencephaly |
| HP:0002410 | Aqueductal stenosis |
| HP:0001166 | Arachnodactyly |
| HP:0100702 | Arachnoid cyst |
| HP:0030530 | Arcuate scotoma |
| HP:0007402 | Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines |
| HP:0001284 | Areflexia |
| HP:0002522 | Areflexia of lower limbs |
| HP:0012046 | Areflexia of upper limbs |
| HP:0003268 | Argininuria |
| HP:0100317 | Argyrophilic inclusion bodies |
| HP:0002308 | Arnold-Chiari malformation |
| HP:0007099 | Arnold-Chiari type I malformation |
| HP:0002139 | Arrhinencephaly |
| HP:0011675 | Arrhythmia |
| HP:0003207 | Arterial calcification |
| HP:0005794 | Arterial disease of legs |
| HP:0005294 | Arterial dissection |
| HP:0005313 | Arterial fibromuscular dysplasia |
| HP:0011353 | Arterial intimal fibrosis |
| HP:0025324 | Arterial occlusion |
| HP:0025019 | Arterial rupture |
| HP:0100545 | Arterial stenosis |
| HP:0004420 | Arterial thrombosis |
| HP:0005116 | Arterial tortuosity |
| HP:0002634 | Arteriosclerosis |
| HP:0004931 | Arteriosclerosis of small cerebral arteries |
| HP:0004947 | Arteriovenous fistula |
| HP:0002642 | Arteriovenous fistulas of celiac and mesenteric vessels |
| HP:0100026 | Arteriovenous malformation |
| HP:0012089 | Arteritis |
| HP:0002829 | Arthralgia |
| HP:0003365 | Arthralgia of the hip |
| HP:0005059 | Arthralgia/arthritis |
| HP:0001369 | Arthritis |
| HP:0002804 | Arthrogryposis multiplex congenita |
| HP:0005612 | Arthrogryposis-like hand anomaly |
| HP:0003040 | Arthropathy |
| HP:0002631 | Ascending aortic aneurysm |
| HP:0004970 | Ascending aortic dilation |
| HP:0004933 | Ascending aortic dissection |
| HP:0001541 | Ascites |
| HP:0100586 | Aseptic leukocyturia |
| HP:0010885 | Aseptic necrosis |
| HP:0030679 | Ash-leaf spot |
| HP:0012068 | Aspartylglucosaminuria |
| HP:0002835 | Aspiration |
| HP:0011951 | Aspiration pneumonia |
| HP:0012042 | Aspirin-induced asthma |
| HP:0001746 | Asplenia |
| HP:0010527 | Astereognosia |
| HP:0012164 | Asterixis |
| HP:0010308 | Asternia |
| HP:0030672 | Asteroid hyalosis |
| HP:0002099 | Asthma |
| HP:0000483 | Astigmatism |
| HP:0002446 | Astrocytosis |
| HP:0011333 | Asymmetric crying face |
| HP:0100555 | Asymmetric growth |
| HP:0007156 | Asymmetric limb muscle stiffness |
| HP:0030176 | Asymmetric peripheral demyelination |
| HP:0006420 | Asymmetric radial dysplasia |
| HP:0001670 | Asymmetric septal hypertrophy |
| HP:0008929 | Asymmetric short stature |
| HP:0100960 | Asymmetric ventricles |
| HP:0007398 | Asymmetric, linear skin defects |
| HP:0030463 | Asymmetrical distribution of flash visual evoked potentials |
| HP:0030464 | Asymmetrical distribution of pattern reversal visual evoked potentials |
| HP:0012633 | Asymmetry of intraocular pressure |
| HP:0200064 | Asymmetry of iris pigmentation |
| HP:0008482 | Asymmetry of spinal facet joints |
| HP:0010312 | Asymmetry of the breasts |
| HP:0010722 | Asymmetry of the ears |
| HP:0009940 | Asymmetry of the mandible |
| HP:0010755 | Asymmetry of the maxilla |
| HP:0009941 | Asymmetry of the mouth |
| HP:0009930 | Asymmetry of the nares |
| HP:0040093 | Asymmetry of the position of the ears |
| HP:0040092 | Asymmetry of the shape of the ears |
| HP:0040091 | Asymmetry of the size of ears |
| HP:0001555 | Asymmetry of the thorax |
| HP:0008162 | Asymptomatic hyperammonemia |
| HP:0010869 | Asynergia |
| HP:0001251 | Ataxia |
| HP:0100750 | Atelectasis |
| HP:0001039 | Atheroeruptive xanthoma |
| HP:0002635 | Atheromatosis |
| HP:0002621 | Atherosclerosis |
| HP:0011445 | Athetoid cerebral palsy |
| HP:0002305 | Athetosis |
| HP:0003413 | Atlantoaxial abnormality |
| HP:0003414 | Atlantoaxial dislocation |
| HP:0003467 | Atlantoaxial instability |
| HP:0010819 | Atonic seizures |
| HP:0001047 | Atopic dermatitis |
| HP:0012239 | Atransferrinemia |
| HP:0040117 | Atresia of the Eustachian tube |
| HP:0000413 | Atresia of the external auditory canal |
| HP:0011984 | Atretic gallbladder |
| HP:0007820 | Atretic lacrimal punctum |
| HP:0004470 | Atretic occipital cephalocele |
| HP:0200127 | Atrial cardiomyopathy |
| HP:0005110 | Atrial fibrillation |
| HP:0004749 | Atrial flutter |
| HP:0011699 | Atrial reentry tachycardia |
| HP:0011995 | Atrial septal aneurysm |
| HP:0001631 | Atrial septal defect |
| HP:0011539 | Atrial situs ambiguous |
| HP:0011538 | Atrial situs inversus |
| HP:0001678 | Atrioventricular block |
| HP:0006695 | Atrioventricular canal defect |
| HP:0005298 | Atrioventricular canal defect with right ventricle aorta and pulmonary atresia |
| HP:0011709 | Atrioventricular dissociation |
| HP:0025149 | Atrophic muscularis propria |
| HP:0001075 | Atrophic scars |
| HP:0030286 | Atrophic superior cerebellar peduncle |
| HP:0004529 | Atrophic, patchy alopecia |
| HP:0100837 | Atrophodermia vermiculata |
| HP:0006308 | Atrophy of alveolar ridges |
| HP:0007047 | Atrophy of the dentate nucleus |
| HP:0006827 | Atrophy of the spinal cord |
| HP:0007366 | Atrophy/Degeneration affecting the brainstem |
| HP:0007367 | Atrophy/Degeneration affecting the central nervous system |
| HP:0007369 | Atrophy/Degeneration affecting the cerebrum |
| HP:0007374 | Atrophy/Degeneration involving the caudate nucleus |
| HP:0007372 | Atrophy/Degeneration involving the corticospinal tracts |
| HP:0007344 | Atrophy/Degeneration involving the spinal cord |
| HP:0009907 | Attached earlobe |
| HP:0007018 | Attention deficit hyperactivity disorder |
| HP:0007843 | Attenuation of retinal blood vessels |
| HP:0007270 | Atypical absence seizures |
| HP:0004822 | Atypical elliptocytosis |
| HP:0004922 | Atypical hyperphenylalaninemia |
| HP:0001074 | Atypical nevi in non-sun exposed areas |
| HP:0001062 | Atypical nevus |
| HP:0200122 | Atypical or prolonged hepatitis |
| HP:0000987 | Atypical scarring of skin |
| HP:0011158 | Auditory auras |
| HP:0008765 | Auditory hallucinations |
| HP:0011157 | Auras |
| HP:0030025 | Auricular pit |
| HP:0030021 | Auricular tag |
| HP:0000717 | Autism |
| HP:0000753 | Autism with high cognitive abilities |
| HP:0000729 | Autistic behavior |
| HP:0001218 | Autoamputation |
| HP:0007460 | Autoamputation of digits |
| HP:0001868 | Autoamputation of foot |
| HP:0030057 | Autoimmune antibody positivity |
| HP:0001890 | Autoimmune hemolytic anemia |
| HP:0011771 | Autoimmune hypoparathyroidism |
| HP:0001904 | Autoimmune neutropenia |
| HP:0001973 | Autoimmune thrombocytopenia |
| HP:0002960 | Autoimmunity |
| HP:0011700 | Automatic atrial tachycardia |
| HP:0005341 | Autonomic bladder dysfunction |
| HP:0002271 | Autonomic dysregulation |
| HP:0008652 | Autonomic erectile dysfunction |
| HP:0003736 | Autophagic vacuoles |
| HP:0011717 | AV nodal reentry tachycardia |
| HP:0011687 | AV nodal tachycardia |
| HP:0005743 | Avascular necrosis of the capital femoral epiphysis |
| HP:0001492 | Axenfeld anomaly |
| HP:0002530 | Axial dystonia |
| HP:0004717 | Axial malrotation of the kidney |
| HP:0006921 | Axial muscle stiffness |
| HP:0003327 | Axial muscle weakness |
| HP:0007471 | Axillary and groin hyperpigmentation and hypopigmentation |
| HP:0007397 | Axillary apocrine gland hypoplasia |
| HP:0012540 | Axillary epidermoid cyst |
| HP:0000997 | Axillary freckling |
| HP:0001060 | Axillary pterygia |
| HP:0040078 | Axonal degeneration |
| HP:0003378 | Axonal degeneration/regeneration |
| HP:0003447 | Axonal loss |
| HP:0003450 | Axonal regeneration |
| HP:0000027 | Azoospermia |
| HP:0002157 | Azotemia |
| HP:0010976 | B lymphocytopenia |
| HP:0003487 | Babinski sign |
| HP:0003418 | Back pain |
| HP:0006689 | Bacterial endocarditis |
| HP:0012461 | Bacteriuria |
| HP:0000585 | Band keratopathy |
| HP:0007709 | Band-shaped corneal dystrophy |
| HP:0001552 | Barrel-shaped chest |
| HP:0011817 | Basal encephalocele |
| HP:0002135 | Basal ganglia calcification |
| HP:0006799 | Basal ganglia cysts |
| HP:0025039 | Basal ganglia edema |
| HP:0006999 | Basal ganglia gliosis |
| HP:0012128 | Basal ganglia necrosis |
| HP:0003400 | Basal lamina 'onion bulb' formation |
| HP:0005758 | Basilar impression |
| HP:0012366 | Basilar invagination |
| HP:0000923 | Beaded ribs |
| HP:0030817 | Beaked nails |
| HP:0004568 | Beaking of vertebral bodies |
| HP:0004562 | Beaking of vertebral bodies T12-L3 |
| HP:0025147 | Beaten bronze macular sheen |
| HP:0030664 | Beevor's sign |
| HP:0000708 | Behavioral abnormality |
| HP:0001591 | Bell-shaped thorax |
| HP:0030156 | Bence Jones Proteinuria |
| HP:0008711 | Benign prostatic hyperplasia |
| HP:0030554 | Best corrected visual acuity 0.1 LogMAR |
| HP:0030555 | Best corrected visual acuity 0.2 LogMAR |
| HP:0030556 | Best corrected visual acuity 0.3 LogMAR |
| HP:0030557 | Best corrected visual acuity 0.4 LogMAR |
| HP:0030558 | Best corrected visual acuity 0.5 LogMAR |
| HP:0030560 | Best corrected visual acuity 0.6 LogMAR |
| HP:0030559 | Best corrected visual acuity 0.7 LogMAR |
| HP:0030561 | Best corrected visual acuity 0.8 LogMAR |
| HP:0030562 | Best corrected visual acuity 0.9 LogMAR |
| HP:0030563 | Best corrected visual acuity 1.0 LogMAR |
| HP:0030564 | Best corrected visual acuity 1.1 LogMAR |
| HP:0030565 | Best corrected visual acuity 1.2 LogMAR |
| HP:0030566 | Best corrected visual acuity 1.3 LogMAR |
| HP:0030567 | Best corrected visual acuity 2.0 LogMAR |
| HP:0030568 | Best corrected visual acuity 3.0 LogMAR |
| HP:0006279 | Beta-cell dysfunction |
| HP:0011179 | Beta-EEG |
| HP:0030233 | Bethlem sign |
| HP:0004910 | Bicarbonate-wasting renal tubular acidosis |
| HP:0003646 | Bicarbonaturia |
| HP:0009783 | Biceps aplasia |
| HP:0003321 | Biconcave flattened vertebrae |
| HP:0004586 | Biconcave vertebral bodies |
| HP:0004625 | Biconvex vertebral bodies |
| HP:0000813 | Bicornuate uterus |
| HP:0011318 | Bicoronal synostosis |
| HP:0001647 | Bicuspid aortic valve |
| HP:0005182 | Bicuspid pulmonary valve |
| HP:0012383 | Bidirectional shunt |
| HP:0005147 | Bidirectional ventricular ectopy |
| HP:0011250 | Bifid antitragus |
| HP:0030911 | Bifid clitoris |
| HP:0009611 | Bifid distal phalanx of the thumb |
| HP:0001853 | Bifid distal phalanx of toe |
| HP:0010564 | Bifid epiglottis |
| HP:0010443 | Bifid femur |
| HP:0009616 | Bifid first metacarpal |
| HP:0003864 | Bifid humerus |
| HP:0010793 | Bifid nail |
| HP:0000456 | Bifid nasal tip |
| HP:0011803 | Bifid nose |
| HP:0100599 | Bifid penis |
| HP:0009614 | Bifid proximal phalanx of the thumb |
| HP:0000892 | Bifid ribs |
| HP:0009791 | Bifid sacrum |
| HP:0000048 | Bifid scrotum |
| HP:0010309 | Bifid sternum |
| HP:0008437 | Bifid thoracic vertebrae |
| HP:0005848 | Bifid thumb distal phalanx |
| HP:0010297 | Bifid tongue |
| HP:0011269 | Bifid tragus |
| HP:0030037 | Bifid ureter |
| HP:0000136 | Bifid uterus |
| HP:0000193 | Bifid uvula |
| HP:0100891 | Bifid xiphoid process |
| HP:0011319 | Bilambdoid synostosis |
| HP:0007146 | Bilateral basal ganglia lesions |
| HP:0012814 | Bilateral breast hypoplasia |
| HP:0005617 | Bilateral camptodactyly |
| HP:0004502 | Bilateral choanal atresia |
| HP:0200138 | Bilateral choanal atresia/stenosis |
| HP:0100336 | Bilateral cleft lip |
| HP:0002744 | Bilateral cleft lip and palate |
| HP:0100337 | Bilateral cleft palate |
| HP:0008513 | Bilateral conductive hearing impairment |
| HP:0007932 | Bilateral congenital mydriasis |
| HP:0010665 | Bilateral coxa valga |
| HP:0008689 | Bilateral cryptorchidism |
| HP:0011650 | Bilateral ductus arteriosus |
| HP:0005021 | Bilateral elbow dislocations |
| HP:0040111 | Bilateral external ear deformity |
| HP:0430025 | Bilateral facial palsy |
| HP:0011129 | Bilateral fetal pyelectasis |
| HP:0005671 | Bilateral intracranial calcifications |
| HP:0005944 | Bilateral lung agenesis |
| HP:0007633 | Bilateral microphthalmos |
| HP:0011189 | Bilateral multifocal epileptiform discharges |
| HP:0006136 | Bilateral postaxial polydactyly |
| HP:0001488 | Bilateral ptosis |
| HP:0004977 | Bilateral radial aplasia |
| HP:0010958 | Bilateral renal agenesis |
| HP:0012586 | Bilateral renal atrophy |
| HP:0012582 | Bilateral renal dysplasia |
| HP:0012584 | Bilateral renal hypoplasia |
| HP:0007808 | Bilateral retinal coloboma |
| HP:0008619 | Bilateral sensorineural hearing impairment |
| HP:0007598 | Bilateral single transverse palmar creases |
| HP:0011667 | Bilateral superior vena cava with bridging vein |
| HP:0011668 | Bilateral superior vena cava with no bridging vein |
| HP:0001776 | Bilateral talipes equinovarus |
| HP:0011861 | Bilateral trilobed lungs |
| HP:0005707 | Bilateral triphalangeal thumbs |
| HP:0005648 | Bilateral ulnar hypoplasia |
| HP:0030324 | Bilateral vertebral artery hypoplasia |
| HP:0012820 | Bilateral vocal cord paralysis |
| HP:0012822 | Bilateral vocal cord paresis |
| HP:0012453 | Bilateral wrist flexion contracture |
| HP:0001408 | Bile duct proliferation |
| HP:0005912 | Biliary atresia |
| HP:0002613 | Biliary cirrhosis |
| HP:0012396 | Biliary dyskinesia |
| HP:0006560 | Biliary hyperplasia |
| HP:0001080 | Biliary tract abnormality |
| HP:0005230 | Biliary tract obstruction |
| HP:0005608 | Bilobate gallbladder |
| HP:0001335 | Bimanual synkinesia |
| HP:0030520 | Binasal hemianopia |
| HP:0004422 | Biparietal narrowing |
| HP:0008127 | Bipartite calcaneus |
| HP:0010498 | Bipartite patella |
| HP:0007302 | Bipolar affective disorder |
| HP:0000320 | Bird-like facies |
| HP:0030952 | Birdshot choroidal lesions |
| HP:0003517 | Birth length greater than 97th percentile |
| HP:0003561 | Birth length less than 3rd percentile |
| HP:0011336 | Bitemporal forceps marks |
| HP:0030521 | Bitemporal hemianopia |
| HP:0007462 | Bitot spots of the conjunctiva |
| HP:0011550 | Biventricular heart with straddling right sided atrioventricular valve and absent left sided atrioventricular connection |
| HP:0200128 | Biventricular hypertrophy |
| HP:0012818 | Biventricular noncompaction cardiomyopathy |
| HP:0011982 | Black pigment gallstones |
| HP:0000015 | Bladder diverticulum |
| HP:0002836 | Bladder exstrophy |
| HP:0004321 | Bladder fistula |
| HP:0010474 | Bladder stones |
| HP:0011888 | Bleeding requiring red cell transfusion |
| HP:0011889 | Bleeding with minor or no trauma |
| HP:0000498 | Blepharitis |
| HP:0010749 | Blepharochalasis |
| HP:0000581 | Blepharophimosis |
| HP:0000643 | Blepharospasm |
| HP:0030644 | Blind-spot enlargment |
| HP:0000618 | Blindness |
| HP:0003305 | Block vertebrae |
| HP:0040269 | Blocked Eustachian tube |
| HP:0010970 | Blood group antigen abnormality |
| HP:0025085 | Bloody diarrhea |
| HP:0025086 | Bloody mucoid diarrhea |
| HP:0007610 | Blotching pigmentation of the skin |
| HP:0007939 | Blue cone monochromacy |
| HP:0000635 | Blue irides |
| HP:0100814 | Blue nevus |
| HP:0000592 | Blue sclerae |
| HP:0000622 | Blurred vision |
| HP:0012062 | Bone cyst |
| HP:0005528 | Bone marrow hypocellularity |
| HP:0002653 | Bone pain |
| HP:0007737 | Bone spicule pigmentation of the retina |
| HP:0004234 | Bone-in-a-bone appearance of carpal bones |
| HP:0003955 | Bone-in-a-bone appearance of forearm |
| HP:0004333 | Bone-marrow foam cells |
| HP:0004407 | Bony paranasal bossing |
| HP:0004038 | Bony spikule of ulnar epiphyseal plate |
| HP:0012076 | Borderline personality disorder |
| HP:0012314 | Bouchard's node |
| HP:0003956 | Bowed forearm bones |
| HP:0003865 | Bowed humerus |
| HP:0005222 | Bowel diverticulosis |
| HP:0002607 | Bowel incontinence |
| HP:0012701 | Bowel urgency |
| HP:0003023 | Bowing of limbs due to multiple fractures |
| HP:0006488 | Bowing of the arm |
| HP:0002979 | Bowing of the legs |
| HP:0006487 | Bowing of the long bones |
| HP:0008756 | Bowing of the vocal cords |
| HP:0045054 | Brachial plexus neuropathy |
| HP:0000248 | Brachycephaly |
| HP:0001156 | Brachydactyly syndrome |
| HP:0005872 | Brachytelomesophalangy |
| HP:0000244 | Brachyturricephaly |
| HP:0010578 | Bracket epiphyses |
| HP:0009489 | Bracket epiphyses of the 2nd finger |
| HP:0100045 | Bracket epiphyses of the 2nd toe |
| HP:0009411 | Bracket epiphyses of the 3rd finger |
| HP:0100056 | Bracket epiphyses of the 3rd toe |
| HP:0009394 | Bracket epiphyses of the 4th finger |
| HP:0100067 | Bracket epiphyses of the 4th toe |
| HP:0009383 | Bracket epiphyses of the 5th finger |
| HP:0100078 | Bracket epiphyses of the 5th toe |
| HP:0010247 | Bracket epiphyses of the distal phalanges of the hand |
| HP:0010114 | Bracket epiphyses of the hallux |
| HP:0010258 | Bracket epiphyses of the middle phalanges of the hand |
| HP:0010229 | Bracket epiphyses of the phalanges of the hand |
| HP:0010269 | Bracket epiphyses of the proximal phalanges of the hand |
| HP:0009687 | Bracket epiphyses of the thumb |
| HP:0010163 | Bracket epiphyses of the toes |
| HP:0010016 | Bracket epiphysis of the 1st metacarpal |
| HP:0010150 | Bracket epiphysis of the 1st metatarsal |
| HP:0009503 | Bracket epiphysis of the distal phalanx of the 2nd finger |
| HP:0100101 | Bracket epiphysis of the distal phalanx of the 2nd toe |
| HP:0009336 | Bracket epiphysis of the distal phalanx of the 3rd finger |
| HP:0100136 | Bracket epiphysis of the distal phalanx of the 3rd toe |
| HP:0009251 | Bracket epiphysis of the distal phalanx of the 4th finger |
| HP:0100170 | Bracket epiphysis of the distal phalanx of the 4th toe |
| HP:0009187 | Bracket epiphysis of the distal phalanx of the 5th finger |
| HP:0100203 | Bracket epiphysis of the distal phalanx of the 5th toe |
| HP:0010139 | Bracket epiphysis of the distal phalanx of the hallux |
| HP:0009676 | Bracket epiphysis of the distal phalanx of the thumb |
| HP:0009514 | Bracket epiphysis of the middle phalanx of the 2nd finger |
| HP:0100112 | Bracket epiphysis of the middle phalanx of the 2nd toe |
| HP:0009322 | Bracket epiphysis of the middle phalanx of the 3rd finger |
| HP:0100147 | Bracket epiphysis of the middle phalanx of the 3rd toe |
| HP:0009215 | Bracket epiphysis of the middle phalanx of the 4th finger |
| HP:0100181 | Bracket epiphysis of the middle phalanx of the 4th toe |
| HP:0009204 | Bracket epiphysis of the middle phalanx of the 5th finger |
| HP:0100214 | Bracket epiphysis of the middle phalanx of the 5th toe |
| HP:0009525 | Bracket epiphysis of the proximal phalanx of the 2nd finger |
| HP:0100123 | Bracket epiphysis of the proximal phalanx of the 2nd toe |
| HP:0009347 | Bracket epiphysis of the proximal phalanx of the 3rd finger |
| HP:0100158 | Bracket epiphysis of the proximal phalanx of the 3rd toe |
| HP:0009262 | Bracket epiphysis of the proximal phalanx of the 4th finger |
| HP:0100192 | Bracket epiphysis of the proximal phalanx of the 4th toe |
| HP:0009197 | Bracket epiphysis of the proximal phalanx of the 5th finger |
| HP:0100225 | Bracket epiphysis of the proximal phalanx of the 5th toe |
| HP:0010128 | Bracket epiphysis of the proximal phalanx of the hallux |
| HP:0009665 | Bracket epiphysis of the proximal phalanx of the thumb |
| HP:0200050 | Bracket metacarpal epiphyses |
| HP:0001662 | Bradycardia |
| HP:0002067 | Bradykinesia |
| HP:0030511 | Bradyopsia |
| HP:0030049 | Brain abscess |
| HP:0012444 | Brain atrophy |
| HP:0002512 | Brain stem compression |
| HP:0001322 | Brain very small |
| HP:0002508 | Brainstem dysplasia |
| HP:0009794 | Branchial anomaly |
| HP:0009796 | Branchial cyst |
| HP:0009795 | Branchial fistula |
| HP:0100272 | Branchial sinus |
| HP:0100783 | Breast aplasia |
| HP:0010313 | Breast hypertrophy |
| HP:0003187 | Breast hypoplasia |
| HP:0005957 | Breathing dysregulation |
| HP:0001623 | Breech presentation |
| HP:0011310 | Bridged palmar crease |
| HP:0005449 | Bridged sella turcica |
| HP:0001348 | Brisk reflexes |
| HP:0002299 | Brittle hair |
| HP:0004779 | Brittle scalp hair |
| HP:0010027 | Broad 1st metacarpal |
| HP:0100040 | Broad 2nd toe |
| HP:0100041 | Broad 3rd toe |
| HP:0100042 | Broad 4th toe |
| HP:0100043 | Broad 5th toe |
| HP:0000187 | Broad alveolar ridges |
| HP:0004242 | Broad carpal bones |
| HP:0011822 | Broad chin |
| HP:0000916 | Broad clavicles |
| HP:0010761 | Broad columella |
| HP:0003861 | Broad diaphyses of the upper limbs |
| HP:0008111 | Broad distal hallux |
| HP:0009880 | Broad distal phalanges of all fingers |
| HP:0009836 | Broad distal phalanx of finger |
| HP:0009558 | Broad distal phalanx of the 2nd finger |
| HP:0010414 | Broad distal phalanx of the 2nd toe |
| HP:0009422 | Broad distal phalanx of the 3rd finger |
| HP:0100431 | Broad distal phalanx of the 3rd toe |
| HP:0009292 | Broad distal phalanx of the 4th finger |
| HP:0100432 | Broad distal phalanx of the 4th toe |
| HP:0009240 | Broad distal phalanx of the 5th finger |
| HP:0100433 | Broad distal phalanx of the 5th toe |
| HP:0010077 | Broad distal phalanx of the hallux |
| HP:0009642 | Broad distal phalanx of the thumb |
| HP:0010186 | Broad distal phalanx of the toes |
| HP:0011229 | Broad eyebrow |
| HP:0000283 | Broad face |
| HP:0008804 | Broad femoral head |
| HP:0006417 | Broad femoral metaphyses |
| HP:0006429 | Broad femoral neck |
| HP:0001500 | Broad finger |
| HP:0011300 | Broad fingertip |
| HP:0010068 | Broad first metatarsal |
| HP:0001769 | Broad foot |
| HP:0003971 | Broad forearm bones |
| HP:0000337 | Broad forehead |
| HP:0010055 | Broad hallux |
| HP:0010059 | Broad hallux phalanx |
| HP:0003906 | Broad humeral epiphyseal plate |
| HP:0003903 | Broad humeral epiphyses |
| HP:0011237 | Broad inferior crus of antihelix |
| HP:0100865 | Broad ischia |
| HP:0012802 | Broad jaw |
| HP:0007933 | Broad lateral eyebrow |
| HP:0006371 | Broad long bone diaphyses |
| HP:0005622 | Broad long bones |
| HP:0006146 | Broad metacarpal epiphyses |
| HP:0001230 | Broad metacarpals |
| HP:0001783 | Broad metatarsal |
| HP:0010195 | Broad middle phalanges of the toes |
| HP:0009844 | Broad middle phalanx of finger |
| HP:0009569 | Broad middle phalanx of the 2nd finger |
| HP:0010405 | Broad middle phalanx of the 2nd toe |
| HP:0009430 | Broad middle phalanx of the 3rd finger |
| HP:0100425 | Broad middle phalanx of the 3rd toe |
| HP:0009293 | Broad middle phalanx of the 4th finger |
| HP:0100426 | Broad middle phalanx of the 4th toe |
| HP:0009169 | Broad middle phalanx of the 5th finger |
| HP:0100427 | Broad middle phalanx of the 5th toe |
| HP:0001821 | Broad nail |
| HP:0000455 | Broad nasal tip |
| HP:0000475 | Broad neck |
| HP:0001169 | Broad palm |
| HP:0009547 | Broad phalanges of the 2nd finger |
| HP:0010348 | Broad phalanges of the 2nd toe |
| HP:0009440 | Broad phalanges of the 3rd finger |
| HP:0010360 | Broad phalanges of the 3rd toe |
| HP:0009404 | Broad phalanges of the 4th finger |
| HP:0010372 | Broad phalanges of the 4th toe |
| HP:0009374 | Broad phalanges of the 5th finger |
| HP:0010384 | Broad phalanges of the 5th toe |
| HP:0009768 | Broad phalanges of the hand |
| HP:0006009 | Broad phalanx |
| HP:0010174 | Broad phalanx of the toes |
| HP:0000289 | Broad philtrum |
| HP:0009852 | Broad proximal phalanges of the hand |
| HP:0009581 | Broad proximal phalanx of the 2nd finger |
| HP:0010396 | Broad proximal phalanx of the 2nd toe |
| HP:0009450 | Broad proximal phalanx of the 3rd finger |
| HP:0100428 | Broad proximal phalanx of the 3rd toe |
| HP:0009310 | Broad proximal phalanx of the 4th finger |
| HP:0100429 | Broad proximal phalanx of the 4th toe |
| HP:0009227 | Broad proximal phalanx of the 5th finger |
| HP:0100430 | Broad proximal phalanx of the 5th toe |
| HP:0010086 | Broad proximal phalanx of the hallux |
| HP:0009630 | Broad proximal phalanx of the thumb |
| HP:0010204 | Broad proximal phalanx of toe |
| HP:0004031 | Broad radial diaphysis |
| HP:0004014 | Broad radial epiphyseal plate |
| HP:0004026 | Broad radial metaphysis |
| HP:0003981 | Broad radius |
| HP:0000885 | Broad ribs |
| HP:0000216 | Broad secondary alveolar ridge |
| HP:0002682 | Broad skull |
| HP:0011304 | Broad thumb |
| HP:0006413 | Broad tibial metaphyses |
| HP:0001837 | Broad toe |
| HP:0003993 | Broad ulna |
| HP:0010809 | Broad uvula |
| HP:0100894 | Broad xiphoid process |
| HP:0002136 | Broad-based gait |
| HP:0030715 | Bronchial atresia |
| HP:0006539 | Bronchial cartilage hypoplasia |
| HP:0002110 | Bronchiectasis |
| HP:0011950 | Bronchiolitis |
| HP:0011946 | Bronchiolitis obliterans |
| HP:0011945 | Bronchiolitis obliterans organizing pneumonia |
| HP:0012387 | Bronchitis |
| HP:0006533 | Bronchodysplasia |
| HP:0100730 | Bronchogenic cyst |
| HP:0002780 | Bronchomalacia |
| HP:0010777 | Bronchomegaly |
| HP:0010960 | Bronchopulmonary sequestration |
| HP:0011983 | Brown pigment gallstones |
| HP:0000978 | Bruising susceptibility |
| HP:0001088 | Brushfield spots |
| HP:0003763 | Bruxism |
| HP:0002639 | Budd-Chiari syndrome |
| HP:0001283 | Bulbar palsy |
| HP:0002483 | Bulbar signs |
| HP:0000414 | Bulbous nose |
| HP:0001782 | Bulbous tips of toes |
| HP:0003013 | Bulging epiphyses |
| HP:0000893 | Bulging of the costochondral junction |
| HP:0100739 | Bulimia |
| HP:0011504 | Bull's eye maculopathy |
| HP:0010028 | Bullet-shaped 1st metacarpal |
| HP:0010069 | Bullet-shaped 1st metatarsal |
| HP:0010349 | Bullet-shaped 2nd toe phalanx |
| HP:0010361 | Bullet-shaped 3rd toe phalanx |
| HP:0010373 | Bullet-shaped 4th toe phalanx |
| HP:0010385 | Bullet-shaped 5th toe phalanx |
| HP:0009837 | Bullet-shaped distal phalanges of the hand |
| HP:0009559 | Bullet-shaped distal phalanx of the 2nd finger |
| HP:0010415 | Bullet-shaped distal phalanx of the 2nd toe |
| HP:0009423 | Bullet-shaped distal phalanx of the 3rd finger |
| HP:0100440 | Bullet-shaped distal phalanx of the 3rd toe |
| HP:0009302 | Bullet-shaped distal phalanx of the 4th finger |
| HP:0100441 | Bullet-shaped distal phalanx of the 4th toe |
| HP:0009241 | Bullet-shaped distal phalanx of the 5th finger |
| HP:0100442 | Bullet-shaped distal phalanx of the 5th toe |
| HP:0010078 | Bullet-shaped distal phalanx of the hallux |
| HP:0009643 | Bullet-shaped distal phalanx of the thumb |
| HP:0010187 | Bullet-shaped distal toe phalanx |
| HP:0010060 | Bullet-shaped hallux phalanx |
| HP:0009845 | Bullet-shaped middle phalanges of the hand |
| HP:0009570 | Bullet-shaped middle phalanx of the 2nd finger |
| HP:0010406 | Bullet-shaped middle phalanx of the 2nd toe |
| HP:0009431 | Bullet-shaped middle phalanx of the 3rd finger |
| HP:0100434 | Bullet-shaped middle phalanx of the 3rd toe |
| HP:0009296 | Bullet-shaped middle phalanx of the 4th finger |
| HP:0100435 | Bullet-shaped middle phalanx of the 4th toe |
| HP:0009168 | Bullet-shaped middle phalanx of the 5th finger |
| HP:0100436 | Bullet-shaped middle phalanx of the 5th toe |
| HP:0010196 | Bullet-shaped middle toe phalanx |
| HP:0009548 | Bullet-shaped phalanges of the 2nd finger |
| HP:0009441 | Bullet-shaped phalanges of the 3rd finger |
| HP:0009405 | Bullet-shaped phalanges of the 4th finger |
| HP:0009375 | Bullet-shaped phalanges of the 5th finger |
| HP:0009769 | Bullet-shaped phalanges of the hand |
| HP:0009853 | Bullet-shaped proximal phalanges of the hand |
| HP:0009582 | Bullet-shaped proximal phalanx of the 2nd finger |
| HP:0010397 | Bullet-shaped proximal phalanx of the 2nd toe |
| HP:0009451 | Bullet-shaped proximal phalanx of the 3rd finger |
| HP:0100437 | Bullet-shaped proximal phalanx of the 3rd toe |
| HP:0009311 | Bullet-shaped proximal phalanx of the 4th finger |
| HP:0100438 | Bullet-shaped proximal phalanx of the 4th toe |
| HP:0009228 | Bullet-shaped proximal phalanx of the 5th finger |
| HP:0100439 | Bullet-shaped proximal phalanx of the 5th toe |
| HP:0010087 | Bullet-shaped proximal phalanx of the hallux |
| HP:0009631 | Bullet-shaped proximal phalanx of the thumb |
| HP:0010205 | Bullet-shaped proximal toe phalanx |
| HP:0009652 | Bullet-shaped thumb phalanx |
| HP:0010175 | Bullet-shaped toe phalanx |
| HP:0011710 | Bundle branch block |
| HP:0000557 | Buphthalmos |
| HP:0006326 | Buried teeth encased in mucopolysaccharide |
| HP:0025232 | Bursitis |
| HP:0003316 | Butterfly vertebrae |
| HP:0004617 | Butterfly vertebral arch |
| HP:0003320 | C1-C2 subluxation |
| HP:0008440 | C1-C2 vertebral abnormality |
| HP:0008456 | C2-C3 subluxation |
| HP:0030888 | C3 nephritic factor positivity |
| HP:0004434 | C8 deficiency |
| HP:0004326 | Cachexia |
| HP:0011410 | Caesarian section |
| HP:0000957 | Cafe-au-lait spot |
| HP:0004695 | Calcaneal epiphyseal stippling |
| HP:0008122 | Calcaneonavicular fusion |
| HP:0001848 | Calcaneovalgus deformity |
| HP:0005173 | Calcific aortic valve stenosis |
| HP:0200129 | Calcific mitral stenosis |
| HP:0002832 | Calcific stippling |
| HP:0005841 | Calcific stippling of infantile cartilaginous skeleton |
| HP:0100593 | Calcification of cartilage |
| HP:0005462 | Calcification of falx cerebri |
| HP:0100249 | Calcification of muscles |
| HP:0040059 | Calcification of ribs |
| HP:0004963 | Calcification of the aorta |
| HP:0005103 | Calcification of the auricular cartilage |
| HP:0030267 | Calcification of the interosseus membrane of the forearm |
| HP:0002504 | Calcification of the small brain vessels |
| HP:0030425 | Calcified ovarian cyst |
| HP:0011415 | Calcified placenta |
| HP:0003761 | Calcinosis |
| HP:0030209 | Calcium channel antibody positivity |
| HP:0004724 | Calcium nephrolithiasis |
| HP:0008672 | Calcium oxalate nephrolithiasis |
| HP:0012580 | Calcium phosphate nephrolithiasis |
| HP:0008981 | Calf muscle hypertrophy |
| HP:0008962 | Calf muscle hypoplasia |
| HP:0003707 | Calf muscle pseudohypertrophy |
| HP:0004490 | Calvarial hyperostosis |
| HP:0005450 | Calvarial osteosclerosis |
| HP:0001362 | Calvarial skull defect |
| HP:0100595 | Camptocormia |
| HP:0012385 | Camptodactyly |
| HP:0001215 | Camptodactyly of 2nd-5th fingers |
| HP:0100490 | Camptodactyly of finger |
| HP:0001836 | Camptodactyly of toe |
| HP:0025017 | Capillary fragility |
| HP:0030005 | Capillary leak |
| HP:0025104 | Capillary malformation |
| HP:0001241 | Capitate-hamate fusion |
| HP:0100017 | Capsular cataract |
| HP:0025203 | Caput medusae |
| HP:0030843 | Cardiac amyloidosis |
| HP:0001695 | Cardiac arrest |
| HP:0100571 | Cardiac diverticulum |
| HP:0001693 | Cardiac shunt |
| HP:0011720 | Cardiac total anomalous pulmonary venous connection |
| HP:0005146 | Cardiac valve calcification |
| HP:0030149 | Cardiogenic shock |
| HP:0001640 | Cardiomegaly |
| HP:0001638 | Cardiomyopathy |
| HP:0006543 | Cardiorespiratory arrest |
| HP:0011915 | Cardiovascular calcification |
| HP:0000670 | Carious teeth |
| HP:0003167 | Carnosinuria |
| HP:0012163 | Carotid artery aneurysm |
| HP:0012158 | Carotid artery dissection |
| HP:0012474 | Carotid artery occlusion |
| HP:0100546 | Carotid artery stenosis |
| HP:0005302 | Carotid artery tortuosity |
| HP:0012669 | Carotid sinus syncope |
| HP:0004231 | Carpal bone aplasia |
| HP:0001498 | Carpal bone hypoplasia |
| HP:0005776 | Carpal bone malsegmentation |
| HP:0001495 | Carpal osteolysis |
| HP:0009702 | Carpal synostosis |
| HP:0100328 | Carpometacarpal synostosis |
| HP:0100773 | Cartilage destruction |
| HP:0008747 | Cartilaginous ossification of larynx |
| HP:0005275 | Cartilaginous ossification of nose |
| HP:0005347 | Cartilaginous trachea |
| HP:0200046 | Cat cry |
| HP:0002524 | Cataplexy |
| HP:0000518 | Cataract |
| HP:0002825 | Caudal appendage |
| HP:0008457 | Caudal interpedicular narrowing |
| HP:0002340 | Caudate atrophy |
| HP:0007007 | Cavitation of the basal ganglia |
| HP:0002389 | Cavum septum pellucidum |
| HP:0100858 | Celiac artery aneurysm |
| HP:0012327 | Celiac artery compression |
| HP:0002608 | Celiac disease |
| HP:0005374 | Cellular immunodeficiency |
| HP:0003653 | Cellular metachromasia |
| HP:0100658 | Cellulitis |
| HP:0003553 | Cellulitis due to immunodeficiency |
| HP:0011734 | Central adrenal insufficiency |
| HP:0002871 | Central apnea |
| HP:0030230 | Central core regions in muscle fibers |
| HP:0007881 | Central corneal dystrophy |
| HP:0000863 | Central diabetes insipidus |
| HP:0025195 | Central diaphragmatic hernia |
| HP:0008014 | Central fundal arteriolar microaneurysms |
| HP:0007818 | Central heterochromia |
| HP:0011787 | Central hypothyroidism |
| HP:0011398 | Central hypotonia |
| HP:0007110 | Central hypoventilation |
| HP:0030818 | Central nail canal |
| HP:0030724 | Central nervous system cyst |
| HP:0007009 | Central nervous system degeneration |
| HP:0011493 | Central opacification of the cornea |
| HP:0008511 | Central posterior corneal opacity |
| HP:0025342 | Central retinal artery occlusion |
| HP:0007822 | Central retinal exudate |
| HP:0007768 | Central retinal vessel vascular tortuosity |
| HP:0000603 | Central scotoma |
| HP:0010536 | Central sleep apnea |
| HP:0008463 | Central vertebral hypoplasia |
| HP:0006145 | Central Y-shaped metacarpal |
| HP:0003687 | Centrally nucleated skeletal muscle fibers |
| HP:0025180 | Centrilobular ground-glass opacification |
| HP:0000576 | Centrocecal scotoma |
| HP:0011815 | Cephalocele |
| HP:0012541 | Cephalohematoma |
| HP:0012642 | Cerebellar agenesis |
| HP:0009878 | Cerebellar ataxia associated with quadrupedal gait |
| HP:0001272 | Cerebellar atrophy |
| HP:0007352 | Cerebellar calcifications |
| HP:0008278 | Cerebellar cortical atrophy |
| HP:0002350 | Cerebellar cyst |
| HP:0007033 | Cerebellar dysplasia |
| HP:0012698 | Cerebellar gliosis |
| HP:0012080 | Cerebellar granular layer atrophy |
| HP:0100307 | Cerebellar hemisphere hypoplasia |
| HP:0011695 | Cerebellar hemorrhage |
| HP:0001321 | Cerebellar hypoplasia |
| HP:0002438 | Cerebellar malformation |
| HP:0012082 | Cerebellar Purkinje layer atrophy |
| HP:0006855 | Cerebellar vermis atrophy |
| HP:0001320 | Cerebellar vermis hypoplasia |
| HP:0012487 | Cerebellopontine angle arachnoid cyst |
| HP:0011970 | Cerebral amyloid angiopathy |
| HP:0004944 | Cerebral aneurysm |
| HP:0002408 | Cerebral arteriovenous malformation |
| HP:0007201 | Cerebral artery atherosclerosis |
| HP:0012492 | Cerebral artery stenosis |
| HP:0002059 | Cerebral atrophy |
| HP:0007029 | Cerebral berry aneurysm |
| HP:0002514 | Cerebral calcification |
| HP:0006790 | Cerebral cortex with spongiform changes |
| HP:0002120 | Cerebral cortical atrophy |
| HP:0100308 | Cerebral cortical hemiatrophy |
| HP:0006964 | Cerebral cortical neurodegeneration |
| HP:0007313 | Cerebral degeneration |
| HP:0007266 | Cerebral dysmyelination |
| HP:0002181 | Cerebral edema |
| HP:0100313 | Cerebral granulomatosis |
| HP:0001342 | Cerebral hemorrhage |
| HP:0100319 | Cerebral hyaline bodies |
| HP:0006808 | Cerebral hypomyelination |
| HP:0006872 | Cerebral hypoplasia |
| HP:0100314 | Cerebral inclusion bodies |
| HP:0002637 | Cerebral ischemia |
| HP:0100021 | Cerebral palsy |
| HP:0005318 | Cerebral vasculitis |
| HP:0012481 | Cerebral venous angioma |
| HP:0005305 | Cerebral venous thrombosis |
| HP:0100311 | Cerebral ventricular adhesions |
| HP:0200017 | Cerebral white matter agenesis |
| HP:0012762 | Cerebral white matter atrophy |
| HP:0012430 | Cerebral white matter hypoplasia |
| HP:0007976 | Cerulean cataract |
| HP:0030787 | Cerumen abnormality |
| HP:0030008 | Cervical agenesis |
| HP:0011588 | Cervical aortic arch |
| HP:0004602 | Cervical C2/C3 vertebral fusion |
| HP:0030281 | Cervical C3/C4 vertebral fusion |
| HP:0004635 | Cervical C5/C6 vertebrae fusion |
| HP:0002341 | Cervical cord compression |
| HP:0011583 | Cervical ectopia cordis |
| HP:0030158 | Cervical ectropion |
| HP:0012889 | Cervical endometriosis |
| HP:0008462 | Cervical instability |
| HP:0030009 | Cervical insufficiency |
| HP:0002947 | Cervical kyphosis |
| HP:0025289 | Cervical lymphadenopathy |
| HP:0002318 | Cervical myelopathy |
| HP:0025266 | Cervical osteoarthritis |
| HP:0004558 | Cervical platyspondyly |
| HP:0030159 | Cervical polyp |
| HP:0000891 | Cervical ribs |
| HP:0004632 | Cervical segmentation defect |
| HP:0005857 | Cervical spina bifida |
| HP:0008445 | Cervical spinal canal stenosis |
| HP:0010873 | Cervical spinal cord atrophy |
| HP:0003318 | Cervical spine hypermobility |
| HP:0010646 | Cervical spine instability |
| HP:0008480 | Cervical spondylosis |
| HP:0003308 | Cervical subluxation |
| HP:0008459 | Cervical vertebral agenesis |
| HP:0008483 | Cervical vertebral bodies with decreased anteroposterior diameter |
| HP:0008469 | Cervical vertebral dysplasia |
| HP:0008461 | Cervical vertebral facet hypoplasia |
| HP:0030160 | Cervicitis |
| HP:0030325 | Cervicomedullary schisis |
| HP:0004485 | Cessation of head growth |
| HP:0010875 | Chaddock reflex |
| HP:0010605 | Chalazion |
| HP:0011725 | Chaotic multifocal atrial tachycardia |
| HP:0007295 | Chaotic rapid conjugate ocular movements |
| HP:0040181 | Chapped lip |
| HP:0100825 | Cheilitis |
| HP:0012375 | Chemosis |
| HP:0010729 | Cherry red spot of the macula |
| HP:0006170 | Chess-pawn distal phalanges |
| HP:0100749 | Chest pain |
| HP:0004000 | Chevron-shaped/cone-shaped radial epiphyses |
| HP:0003975 | Chevron-shaped/cone-shaped radius |
| HP:0005216 | Chewing difficulties |
| HP:0012196 | Cheyne-Stokes respiration |
| HP:0009710 | Chilblain lesions |
| HP:0011474 | Childhood onset sensorineural hearing impairment |
| HP:0011405 | Childhood onset short-limb short stature |
| HP:0008922 | Childhood-onset short-trunk short stature |
| HP:0008915 | Childhood-onset truncal obesity |
| HP:0025143 | Chills |
| HP:0010751 | Chin dimple |
| HP:0012462 | Chin myoclonus |
| HP:0011824 | Chin with H-shaped crease |
| HP:0011823 | Chin with horizontal crease |
| HP:0400001 | Chin with vertical crease |
| HP:0000453 | Choanal atresia |
| HP:0000452 | Choanal stenosis |
| HP:0030842 | Choking episodes |
| HP:0030151 | Cholangitis |
| HP:0001082 | Cholecystitis |
| HP:0001081 | Cholelithiasis |
| HP:0001396 | Cholestasis |
| HP:0002611 | Cholestatic liver disease |
| HP:0011980 | Cholesterol gallstones |
| HP:0100662 | Chondritis |
| HP:0200047 | Chondritis of pinna |
| HP:0000934 | Chondrocalcinosis |
| HP:0012070 | Chondroitin sulfate excretion in urine |
| HP:0000041 | Chordee |
| HP:0002072 | Chorea |
| HP:0001266 | Choreoathetosis |
| HP:0030491 | Choriocapillaris atrophy |
| HP:0000532 | Chorioretinal abnormality |
| HP:0000533 | Chorioretinal atrophy |
| HP:0000567 | Chorioretinal coloboma |
| HP:0200065 | Chorioretinal degeneration |
| HP:0007731 | Chorioretinal dysplasia |
| HP:0001135 | Chorioretinal dystrophy |
| HP:0040031 | Chorioretinal hyperpigmentation |
| HP:0040030 | Chorioretinal hypopigmentation |
| HP:0007858 | Chorioretinal lacunae |
| HP:0007777 | Chorioretinal scar |
| HP:0012424 | Chorioretinitis |
| HP:0011887 | Choroid hemorrhage |
| HP:0006960 | Choroid plexus calcification |
| HP:0002190 | Choroid plexus cyst |
| HP:0011506 | Choroidal neovascularization of the macula |
| HP:0025314 | Choroidal nevus |
| HP:0001139 | Choroideremia |
| HP:0003221 | Chromosomal breakage induced by crosslinking agents |
| HP:0010997 | Chromosomal breakage induced by ionizing radiation |
| HP:0040012 | Chromosome breakage |
| HP:0012468 | Chronic acidosis |
| HP:0200120 | Chronic active hepatitis |
| HP:0002582 | Chronic atrophic gastritis |
| HP:0007267 | Chronic axonal neuropathy |
| HP:0004469 | Chronic bronchitis |
| HP:0005236 | Chronic calcifying pancreatitis |
| HP:0100281 | Chronic colitis |
| HP:0012450 | Chronic constipation |
| HP:0009704 | Chronic CSF lymphocytosis |
| HP:0002028 | Chronic diarrhea |
| HP:0005520 | Chronic disseminated intravascular coagulation |
| HP:0012432 | Chronic fatigue |
| HP:0011132 | Chronic furunculosis |
| HP:0005231 | Chronic gastritis |
| HP:0004870 | Chronic hemolytic anemia |
| HP:0007111 | Chronic hepatic encephalopathy |
| HP:0100626 | Chronic hepatic failure |
| HP:0200123 | Chronic hepatitis |
| HP:0200124 | Chronic hepatitis due to cryptospridium infection |
| HP:0005411 | Chronic intestinal candidiasis |
| HP:0007717 | Chronic irritative conjunctivitis |
| HP:0012622 | Chronic kidney disease |
| HP:0004925 | Chronic lactic acidosis |
| HP:0006528 | Chronic lung disease |
| HP:0007041 | Chronic lymphocytic meningitis |
| HP:0001996 | Chronic metabolic acidosis |
| HP:0008396 | Chronic monilial nail infection |
| HP:0002728 | Chronic mucocutaneous candidiasis |
| HP:0002730 | Chronic noninfectious lymphadenopathy |
| HP:0006541 | Chronic obstructive airway disease from birth |
| HP:0006510 | Chronic obstructive pulmonary disease |
| HP:0009098 | Chronic oral candidiasis |
| HP:0000389 | Chronic otitis media |
| HP:0012532 | Chronic pain |
| HP:0006280 | Chronic pancreatitis |
| HP:0005901 | Chronic recurrent multifocal osteomyelitis |
| HP:0012466 | Chronic respiratory acidosis |
| HP:0002257 | Chronic rhinitis |
| HP:0004499 | Chronic rhinitis due to narrow nasal airway |
| HP:0001301 | Chronic sensorineural polyneuropathy |
| HP:0011109 | Chronic sinusitis |
| HP:0004743 | Chronic tubulointerstitial nephritis |
| HP:0030452 | Chylolymphatic mesenteric cyst |
| HP:0011852 | Chylopericardium |
| HP:0010310 | Chylothorax |
| HP:0012281 | Chylous ascites |
| HP:0030004 | Cicatricial lagophthalmos |
| HP:0001073 | Cigarette-paper scars |
| HP:0020006 | Ciliary body coloboma |
| HP:0012265 | Ciliary dyskinesia |
| HP:0012224 | Circulating immune complexes |
| HP:0025338 | Circumlimbal hyperemia |
| HP:0008399 | Circumungual hyperkeratosis |
| HP:0001394 | Cirrhosis |
| HP:0025115 | Civatte bodies |
| HP:0025253 | Claustrophobia |
| HP:0100923 | Clavicular sclerosis |
| HP:0003191 | Cleft ala nasi |
| HP:0011569 | Cleft anterior mitral valve leaflet |
| HP:0008537 | Cleft at the superior portion of the pinna |
| HP:0011265 | Cleft earlobe |
| HP:0000625 | Cleft eyelid |
| HP:0410005 | Cleft hard palate |
| HP:0009902 | Cleft helix |
| HP:0009752 | Cleft in skull base |
| HP:0009094 | Cleft lower alveolar ridge |
| HP:0010281 | Cleft lower lip |
| HP:0010752 | Cleft mandible |
| HP:0011323 | Cleft of chin |
| HP:0000175 | Cleft palate |
| HP:0410003 | Cleft primary palate |
| HP:0410004 | Cleft secondary palate |
| HP:0000185 | Cleft soft palate |
| HP:0000204 | Cleft upper lip |
| HP:0004616 | Cleft vertebral arch |
| HP:0030084 | Clinodactyly |
| HP:0040018 | Clinodactyly of hallux |
| HP:0040022 | Clinodactyly of the 2nd finger |
| HP:0005824 | Clinodactyly of the 2nd toe |
| HP:0040024 | Clinodactyly of the 3rd finger |
| HP:0008115 | Clinodactyly of the 3rd toe |
| HP:0040025 | Clinodactyly of the 4th finger |
| HP:0011918 | Clinodactyly of the 4th toe |
| HP:0004209 | Clinodactyly of the 5th finger |
| HP:0001864 | Clinodactyly of the 5th toe |
| HP:0040023 | Clinodactyly of the thumb |
| HP:0008665 | Clitoral hypertrophy |
| HP:0000060 | Clitoral hypoplasia |
| HP:0012620 | Cloacal abnormality |
| HP:0010475 | Cloacal exstrophy |
| HP:0002169 | Clonus |
| HP:0025250 | Closed comedo |
| HP:0002676 | Cloverleaf skull |
| HP:0006384 | Club-shaped distal femur |
| HP:0006406 | Club-shaped proximal femur |
| HP:0001217 | Clubbing |
| HP:0100759 | Clubbing of fingers |
| HP:0100760 | Clubbing of toes |
| HP:0025165 | Clumping of elastic fibers in the dermis |
| HP:0002312 | Clumsiness |
| HP:0012199 | Cluster headache |
| HP:0007233 | Clusters of axonal regeneration |
| HP:0007305 | CNS demyelination |
| HP:0012754 | CNS hypermyelination |
| HP:0003429 | CNS hypomyelination |
| HP:0011450 | CNS infection |
| HP:0005802 | Coalescence of tarsal bones |
| HP:0004974 | Coarctation of abdominal aorta |
| HP:0001680 | Coarctation of aorta |
| HP:0012305 | Coarctation of the descending aortic arch |
| HP:0000280 | Coarse facial features |
| HP:0002208 | Coarse hair |
| HP:0003866 | Coarse humeral trabeculae |
| HP:0006665 | Coat hanger sign of ribs |
| HP:0011375 | Cochlear aplasia |
| HP:0005102 | Cochlear degeneration |
| HP:0008554 | Cochlear malformation |
| HP:0100543 | Cognitive impairment |
| HP:0002396 | Cogwheel rigidity |
| HP:0003435 | Cold-induced hand cramps |
| HP:0003449 | Cold-induced muscle cramps |
| HP:0025278 | Cold-induced sweating |
| HP:0012904 | Cold-sensitive myotonia |
| HP:0002583 | Colitis |
| HP:0030212 | Collectionism |
| HP:0000589 | Coloboma |
| HP:0010448 | Colonic atresia |
| HP:0002253 | Colonic diverticula |
| HP:0012423 | Colonic inertia |
| HP:0012851 | Colonic stenosis |
| HP:0012550 | Colonic varices |
| HP:0030584 | Color vision test abnormality |
| HP:0030048 | Colpocephaly |
| HP:0001259 | Coma |
| HP:0008356 | Combined hyperlipidemia |
| HP:0005387 | Combined immunodeficiency |
| HP:0025249 | Comedo |
| HP:0025069 | Comitant strabismus |
| HP:0004235 | Comma-shaped carpal bones |
| HP:0004245 | Comma-shaped scaphoid |
| HP:0002710 | Commissural lip pit |
| HP:0011565 | Common atrium |
| HP:0012162 | Common carotid artery dissection |
| HP:0011589 | Common origin of the right brachiocephalic artery and left common carotid artery |
| HP:0001334 | Communicating hydrocephalus |
| HP:0040137 | Comodogenic acne |
| HP:0004863 | Compensated hemolytic anemia |
| HP:0008223 | Compensated hypothyroidism |
| HP:0001477 | Compensatory chin elevation |
| HP:0100884 | Compensatory scoliosis |
| HP:0004431 | Complement deficiency |
| HP:0001674 | Complete atrioventricular canal defect |
| HP:0010860 | Complete breech presentation |
| HP:0030640 | Complete congenital stationary night blindness |
| HP:0011630 | Complete diaphragmatic absence of pericardium |
| HP:0009606 | Complete duplication of distal phalanx of the thumb |
| HP:0010100 | Complete duplication of hallux phalanx |
| HP:0009998 | Complete duplication of phalanx of hand |
| HP:0009608 | Complete duplication of proximal phalanx of the thumb |
| HP:0010098 | Complete duplication of the 1st metatarsal |
| HP:0010001 | Complete duplication of the distal phalanges of the hand |
| HP:0009950 | Complete duplication of the distal phalanx of the 2nd finger |
| HP:0010424 | Complete duplication of the distal phalanx of the 2nd toe |
| HP:0009965 | Complete duplication of the distal phalanx of the 3rd finger |
| HP:0100407 | Complete duplication of the distal phalanx of the 3rd toe |
| HP:0009978 | Complete duplication of the distal phalanx of the 4th finger |
| HP:0100408 | Complete duplication of the distal phalanx of the 4th toe |
| HP:0009991 | Complete duplication of the distal phalanx of the 5th finger |
| HP:0100409 | Complete duplication of the distal phalanx of the 5th toe |
| HP:0010096 | Complete duplication of the distal phalanx of the hallux |
| HP:0009615 | Complete duplication of the first metacarpal |
| HP:0010002 | Complete duplication of the middle phalanges of the hand |
| HP:0009952 | Complete duplication of the middle phalanx of the 2nd finger |
| HP:0010426 | Complete duplication of the middle phalanx of the 2nd toe |
| HP:0009966 | Complete duplication of the middle phalanx of the 3rd finger |
| HP:0100410 | Complete duplication of the middle phalanx of the 3rd toe |
| HP:0009979 | Complete duplication of the middle phalanx of the 4th finger |
| HP:0100411 | Complete duplication of the middle phalanx of the 4th toe |
| HP:0009992 | Complete duplication of the middle phalanx of the 5th finger |
| HP:0100412 | Complete duplication of the middle phalanx of the 5th toe |
| HP:0009957 | Complete duplication of the phalanges of the 2nd finger |
| HP:0010429 | Complete duplication of the phalanges of the 2nd toe |
| HP:0009960 | Complete duplication of the phalanges of the 3rd finger |
| HP:0009973 | Complete duplication of the phalanges of the 4th finger |
| HP:0009986 | Complete duplication of the phalanges of the 5th finger |
| HP:0010000 | Complete duplication of the proximal phalanges of the hand |
| HP:0009954 | Complete duplication of the proximal phalanx of the 2nd finger |
| HP:0010422 | Complete duplication of the proximal phalanx of the 2nd toe |
| HP:0009967 | Complete duplication of the proximal phalanx of the 3rd finger |
| HP:0100413 | Complete duplication of the proximal phalanx of the 3rd toe |
| HP:0009980 | Complete duplication of the proximal phalanx of the 4th finger |
| HP:0100414 | Complete duplication of the proximal phalanx of the 4th toe |
| HP:0009993 | Complete duplication of the proximal phalanx of the 5th finger |
| HP:0100415 | Complete duplication of the proximal phalanx of the 5th toe |
| HP:0010094 | Complete duplication of the proximal phalanx of the hallux |
| HP:0009943 | Complete duplication of thumb phalanx |
| HP:0005170 | Complete heart block with broad RS complexes |
| HP:0005178 | Complete heart block with narrow QRS complexes |
| HP:0011633 | Complete left sided absence of pericardium |
| HP:0011631 | Complete right sided absence of pericardium |
| HP:0011172 | Complex febrile seizures |
| HP:0008336 | Complex organic aciduria |
| HP:0007602 | Complex palmar dermatoglyphic pattern |
| HP:0001598 | Concave nail |
| HP:0011120 | Concave nasal ridge |
| HP:0005157 | Concentric hypertrophic cardiomyopathy |
| HP:0000405 | Conductive hearing impairment |
| HP:0030637 | Cone dysfunction syndrome |
| HP:0011517 | Cone monochromacy |
| HP:0008789 | Cone-shaped capital femoral epiphysis |
| HP:0005066 | Cone-shaped epiphyses fused within their metaphyses |
| HP:0006035 | Cone-shaped epiphyses of phalanges 2 to 5 |
| HP:0009490 | Cone-shaped epiphyses of the 2nd finger |
| HP:0100046 | Cone-shaped epiphyses of the 2nd toe |
| HP:0009412 | Cone-shaped epiphyses of the 3rd finger |
| HP:0100057 | Cone-shaped epiphyses of the 3rd toe |
| HP:0009395 | Cone-shaped epiphyses of the 4th finger |
| HP:0100068 | Cone-shaped epiphyses of the 4th toe |
| HP:0009384 | Cone-shaped epiphyses of the 5th finger |
| HP:0100079 | Cone-shaped epiphyses of the 5th toe |
| HP:0010248 | Cone-shaped epiphyses of the distal phalanges of the hand |
| HP:0010115 | Cone-shaped epiphyses of the hallux |
| HP:0010259 | Cone-shaped epiphyses of the middle phalanges of the hand |
| HP:0010230 | Cone-shaped epiphyses of the phalanges of the hand |
| HP:0010270 | Cone-shaped epiphyses of the proximal phalanges of the hand |
| HP:0010164 | Cone-shaped epiphyses of the toes |
| HP:0010579 | Cone-shaped epiphysis |
| HP:0010017 | Cone-shaped epiphysis of the 1st metacarpal |
| HP:0010151 | Cone-shaped epiphysis of the 1st metatarsal |
| HP:0009504 | Cone-shaped epiphysis of the distal phalanx of the 2nd finger |
| HP:0100102 | Cone-shaped epiphysis of the distal phalanx of the 2nd toe |
| HP:0009337 | Cone-shaped epiphysis of the distal phalanx of the 3rd finger |
| HP:0100137 | Cone-shaped epiphysis of the distal phalanx of the 3rd toe |
| HP:0009252 | Cone-shaped epiphysis of the distal phalanx of the 4th finger |
| HP:0100171 | Cone-shaped epiphysis of the distal phalanx of the 4th toe |
| HP:0004222 | Cone-shaped epiphysis of the distal phalanx of the 5th finger |
| HP:0100204 | Cone-shaped epiphysis of the distal phalanx of the 5th toe |
| HP:0010140 | Cone-shaped epiphysis of the distal phalanx of the hallux |
| HP:0009677 | Cone-shaped epiphysis of the distal phalanx of the thumb |
| HP:0009515 | Cone-shaped epiphysis of the middle phalanx of the 2nd finger |
| HP:0100113 | Cone-shaped epiphysis of the middle phalanx of the 2nd toe |
| HP:0009323 | Cone-shaped epiphysis of the middle phalanx of the 3rd finger |
| HP:0100148 | Cone-shaped epiphysis of the middle phalanx of the 3rd toe |
| HP:0009216 | Cone-shaped epiphysis of the middle phalanx of the 4th finger |
| HP:0100182 | Cone-shaped epiphysis of the middle phalanx of the 4th toe |
| HP:0009205 | Cone-shaped epiphysis of the middle phalanx of the 5th finger |
| HP:0100215 | Cone-shaped epiphysis of the middle phalanx of the 5th toe |
| HP:0009526 | Cone-shaped epiphysis of the proximal phalanx of the 2nd finger |
| HP:0100124 | Cone-shaped epiphysis of the proximal phalanx of the 2nd toe |
| HP:0009348 | Cone-shaped epiphysis of the proximal phalanx of the 3rd finger |
| HP:0100159 | Cone-shaped epiphysis of the proximal phalanx of the 3rd toe |
| HP:0009263 | Cone-shaped epiphysis of the proximal phalanx of the 4th finger |
| HP:0100193 | Cone-shaped epiphysis of the proximal phalanx of the 4th toe |
| HP:0009155 | Cone-shaped epiphysis of the proximal phalanx of the 5th finger |
| HP:0100226 | Cone-shaped epiphysis of the proximal phalanx of the 5th toe |
| HP:0010129 | Cone-shaped epiphysis of the proximal phalanx of the hallux |
| HP:0009666 | Cone-shaped epiphysis of the proximal phalanx of the thumb |
| HP:0009688 | Cone-shaped epiphysis of the thumb |
| HP:0006059 | Cone-shaped metacarpal epiphyses |
| HP:0000548 | Cone/cone-rod dystrophy |
| HP:0007554 | Confetti hypopigmentation pattern of lower leg skin |
| HP:0007449 | Confetti-like hypopigmented macules |
| HP:0001289 | Confusion |
| HP:0025237 | Confusional arousal |
| HP:0011361 | Congenital abnormal hair pattern |
| HP:0012421 | Congenital absence of foreskin |
| HP:0009013 | Congenital absence of gluteal muscles |
| HP:0007506 | Congenital absence of skin of limbs |
| HP:0008258 | Congenital adrenal hyperplasia |
| HP:0008244 | Congenital adrenal hypoplasia |
| HP:0005541 | Congenital agranulocytosis |
| HP:0005597 | Congenital alopecia totalis |
| HP:0004752 | Congenital atrioventricular dissociation |
| HP:0008780 | Congenital bilateral hip dislocation |
| HP:0007911 | Congenital bilateral ptosis |
| HP:0007875 | Congenital blindness |
| HP:0007475 | Congenital bullous ichthyosiform erythroderma |
| HP:0000519 | Congenital cataract |
| HP:0008591 | Congenital conductive hearing impairment |
| HP:0002803 | Congenital contracture |
| HP:0008005 | Congenital corneal dystrophy |
| HP:0008497 | Congenital craniofacial dysostosis |
| HP:0008393 | Congenital curved nail of fourth toe |
| HP:0010959 | Congenital cystic adenomatoid malformation of the lung |
| HP:0011628 | Congenital defect of the pericardium |
| HP:0000776 | Congenital diaphragmatic hernia |
| HP:0004461 | Congenital earlobe sinuses |
| HP:0007239 | Congenital encephalopathy |
| HP:0007381 | Congenital exfoliative erythroderma |
| HP:0008033 | Congenital exotropia |
| HP:0007647 | Congenital extraocular muscle anomaly |
| HP:0007188 | Congenital facial diplegia |
| HP:0001491 | Congenital fibrosis of extraocular muscles |
| HP:0005879 | Congenital finger flexion contractures |
| HP:0005853 | Congenital foot contraction deformities |
| HP:0005745 | Congenital foot contractures |
| HP:0009059 | Congenital generalized lipodystrophy |
| HP:0005600 | Congenital giant melanocytic nevus |
| HP:0001087 | Congenital glaucoma |
| HP:0008251 | Congenital goiter |
| HP:0004804 | Congenital hemolytic anemia |
| HP:0002612 | Congenital hepatic fibrosis |
| HP:0001374 | Congenital hip dislocation |
| HP:0007859 | Congenital horizontal nystagmus |
| HP:0006837 | Congenital Horner syndrome |
| HP:0005129 | Congenital hypertrophy of left ventricle |
| HP:0007649 | Congenital hypertrophy of retinal pigment epithelium |
| HP:0008198 | Congenital hypoparathyroidism |
| HP:0004810 | Congenital hypoplastic anemia |
| HP:0000851 | Congenital hypothyroidism |
| HP:0007431 | Congenital ichthyosiform erythroderma |
| HP:0006906 | Congenital intracerebral calcification |
| HP:0005191 | Congenital knee dislocation |
| HP:0008453 | Congenital kyphoscoliosis |
| HP:0004902 | Congenital lactic acidosis |
| HP:0004886 | Congenital laryngeal stridor |
| HP:0007383 | Congenital localized absence of skin |
| HP:0008640 | Congenital macroorchidism |
| HP:0011603 | Congenital malformation of the great arteries |
| HP:0045017 | Congenital malformation of the left heart |
| HP:0011723 | Congenital malformation of the right heart |
| HP:0030723 | Congenital megalourethra |
| HP:0008676 | Congenital megaureter |
| HP:0011451 | Congenital microcephaly |
| HP:0006647 | Congenital microthorax |
| HP:0007728 | Congenital miosis |
| HP:0011570 | Congenital mitral stenosis |
| HP:0003741 | Congenital muscular dystrophy |
| HP:0005988 | Congenital muscular torticollis |
| HP:0008012 | Congenital myopia |
| HP:0008677 | Congenital nephrotic syndrome |
| HP:0005549 | Congenital neutropenia |
| HP:0007479 | Congenital nonbullous ichthyosiform erythroderma |
| HP:0008024 | Congenital nuclear cataract |
| HP:0006934 | Congenital nystagmus |
| HP:0008394 | Congenital onychodystrophy |
| HP:0007597 | Congenital palmoplantar keratodermia |
| HP:0007545 | Congenital palmoplantar keratosis |
| HP:0006903 | Congenital peripheral neuropathy |
| HP:0012022 | Congenital portosystemic venous shunt |
| HP:0007534 | Congenital posterior occipital alopecia |
| HP:0010957 | Congenital posterior urethral valve |
| HP:0007707 | Congenital primary aphakia |
| HP:0006585 | Congenital pseudoarthrosis of the clavicle |
| HP:0007970 | Congenital ptosis |
| HP:0004399 | Congenital pyloric atresia |
| HP:0008527 | Congenital sensorineural hearing impairment |
| HP:0004760 | Congenital septal defect |
| HP:0030889 | Congenital shortened small intestine |
| HP:0007943 | Congenital stapes ankylosis |
| HP:0007642 | Congenital stationary night blindness |
| HP:0030639 | Congenital stationary night blindness with abnormal fundus |
| HP:0030638 | Congenital stationary night blindness with normal fundus |
| HP:0000487 | Congenital strabismus |
| HP:0007553 | Congenital symmetrical palmoplantar keratosis |
| HP:0005850 | Congenital talipes calcaneovalgus |
| HP:0001905 | Congenital thrombocytopenia |
| HP:0007758 | Congenital visual impairment |
| HP:0004540 | Congenital, generalized hypertrichosis |
| HP:0011540 | Congenitally corrected transposition of the great arteries |
| HP:0011605 | Congenitally corrected transposition of the great arteries with ventricular septal defect |
| HP:0001635 | Congestive heart failure |
| HP:0030519 | Congruous heteronymous hemianopia |
| HP:0030518 | Congruous homonymous hemianopia |
| HP:0011065 | Conical incisor |
| HP:0006339 | Conical mandibular incisor |
| HP:0011083 | Conical maxillary incisor |
| HP:0011082 | Conical primary incisor |
| HP:0000698 | Conical tooth |
| HP:0002908 | Conjugated hyperbilirubinemia |
| HP:0010637 | Conjunctival amyloidosis |
| HP:0030947 | Conjunctival follicles |
| HP:0030953 | Conjunctival hyperemia |
| HP:0012549 | Conjunctival lipoma |
| HP:0009903 | Conjunctival nodule |
| HP:0030946 | Conjunctival papillae |
| HP:0000524 | Conjunctival telangiectasia |
| HP:0007799 | Conjunctival whitish salt-like deposits |
| HP:0000509 | Conjunctivitis |
| HP:0100898 | Connective tissue nevi |
| HP:0001710 | Conotruncal defect |
| HP:0100024 | Conspicuously happy disposition |
| HP:0002019 | Constipation |
| HP:0025142 | Constitutional symptom |
| HP:0003277 | Constricted iliac wings |
| HP:0003998 | Constricted radial neck |
| HP:0003976 | Constricted radius |
| HP:0001133 | Constriction of peripheral visual field |
| HP:0012185 | Constrictive median neuropathy |
| HP:0002563 | Constrictive pericarditis |
| HP:0030675 | Contracture of proximal interphalangeal joints of 2nd-5th fingers |
| HP:0009538 | Contracture of the distal interphalangeal joint of the 2nd finger |
| HP:0100352 | Contracture of the distal interphalangeal joint of the 2nd toe |
| HP:0009469 | Contracture of the distal interphalangeal joint of the 3rd finger |
| HP:0100353 | Contracture of the distal interphalangeal joint of the 3rd toe |
| HP:0009275 | Contracture of the distal interphalangeal joint of the 4th finger |
| HP:0100354 | Contracture of the distal interphalangeal joint of the 4th toe |
| HP:0009184 | Contracture of the distal interphalangeal joint of the 5th finger |
| HP:0009697 | Contracture of the distal interphalangeal joint of the fingers |
| HP:0010214 | Contracture of the interphalangeal joint of the hallux |
| HP:0009539 | Contracture of the metacarpophalangeal joint of the 2nd finger |
| HP:0009470 | Contracture of the metacarpophalangeal joint of the 3rd finger |
| HP:0009277 | Contracture of the metacarpophalangeal joint of the 4th finger |
| HP:0009186 | Contracture of the metacarpophalangeal joint of the 5th finger |
| HP:0100356 | Contracture of the metatarsophalangeal joint of the 2nd toe |
| HP:0100357 | Contracture of the metatarsophalangeal joint of the 3rd toe |
| HP:0100358 | Contracture of the metatarsophalangeal joint of the 4th toe |
| HP:0100359 | Contracture of the metatarsophalangeal joint of the 5th toe |
| HP:0009540 | Contracture of the proximal interphalangeal joint of the 2nd finger |
| HP:0100348 | Contracture of the proximal interphalangeal joint of the 2nd toe |
| HP:0009471 | Contracture of the proximal interphalangeal joint of the 3rd finger |
| HP:0100349 | Contracture of the proximal interphalangeal joint of the 3rd toe |
| HP:0009276 | Contracture of the proximal interphalangeal joint of the 4th finger |
| HP:0100350 | Contracture of the proximal interphalangeal joint of the 4th toe |
| HP:0009185 | Contracture of the proximal interphalangeal joint of the 5th finger |
| HP:0010213 | Contracture of the tarsometatarsal joint of the hallux |
| HP:0008366 | Contractures involving the joints of the feet |
| HP:0009624 | Contractures of the carpometacarpal joint of the thumb |
| HP:0100355 | Contractures of the distal interphalangeal joint of the 5th toe |
| HP:0009626 | Contractures of the interphalangeal joint of the thumb |
| HP:0005750 | Contractures of the joints of the lower limbs |
| HP:0100360 | Contractures of the joints of the upper limbs |
| HP:0005781 | Contractures of the large joints |
| HP:0009625 | Contractures of the metacarpophalangeal joint of the thumb |
| HP:0010215 | Contractures of the metatarsophalangeal joint of the hallux |
| HP:0100351 | Contractures of the proximal interphalangeal joint of the 5th toe |
| HP:0011303 | Convex contour of sole |
| HP:0000444 | Convex nasal ridge |
| HP:0004844 | Coombs-positive hemolytic anemia |
| HP:0012676 | Copper accumulation in brain |
| HP:0025321 | Copper accumulation in liver |
| HP:0001648 | Cor pulmonale |
| HP:0010774 | Cor triatriatrum |
| HP:0011566 | Cor triatriatum dexter |
| HP:0010921 | Coralliform cataract |
| HP:0001084 | Corneal arcus |
| HP:0009915 | Corneal asymmetry |
| HP:0000531 | Corneal crystals |
| HP:0007705 | Corneal degeneration |
| HP:0001131 | Corneal dystrophy |
| HP:0200020 | Corneal erosion |
| HP:0012038 | Corneal guttata |
| HP:0025341 | Corneal keratic precipitates |
| HP:0011496 | Corneal neovascularization |
| HP:0007957 | Corneal opacity |
| HP:0100583 | Corneal perforation |
| HP:0000559 | Corneal scarring |
| HP:0012040 | Corneal stromal edema |
| HP:0012804 | Corneal ulceration |
| HP:0011485 | Corneolenticular adhesion |
| HP:0003908 | Corner fracture of metaphysis |
| HP:0004040 | Corner fragments of ulnar metaphysis |
| HP:0003417 | Coronal cleft vertebrae |
| HP:0004440 | Coronal craniosynostosis |
| HP:0008743 | Coronal hypospadias |
| HP:0001717 | Coronary artery calcification |
| HP:0030882 | Coronary artery dilation |
| HP:0001677 | Coronary artery disease |
| HP:0011641 | Coronary artery fistula |
| HP:0005145 | Coronary artery stenosis |
| HP:0004929 | Coronary atherosclerosis |
| HP:0011643 | Coronary sinus atrial septal defect |
| HP:0011644 | Coronary sinus diverticulum |
| HP:0007371 | Corpus callosum atrophy |
| HP:0100624 | Corpus cavernosum sclerosis |
| HP:0100019 | Cortical cataract |
| HP:0003858 | Cortical diaphyseal irregularity of the upper limbs |
| HP:0003859 | Cortical diaphyseal thickening of the upper limbs |
| HP:0002539 | Cortical dysplasia |
| HP:0009879 | Cortical gyral simplification |
| HP:0005731 | Cortical irregularity |
| HP:0003927 | Cortical irregularity of humeral diaphysis |
| HP:0040148 | Cortical myoclonus |
| HP:0012409 | Cortical nephrocalcinosis |
| HP:0007780 | Cortical pulverulent cataract |
| HP:0005652 | Cortical sclerosis |
| HP:0003909 | Cortical subperiosteal resorption of humeral metaphyses |
| HP:0004271 | Cortical thickening of hand bones |
| HP:0003928 | Cortical thickening of humeral diaphysis |
| HP:0005791 | Cortical thickening of long bone diaphyses |
| HP:0003957 | Cortical thickening of the forearm bones |
| HP:0025333 | Cortical thinning of foot bones |
| HP:0004272 | Cortical thinning of hand bones |
| HP:0100704 | Cortical visual impairment |
| HP:0006415 | Cortically dense long tubular bones |
| HP:0007117 | Corticospinal tract atrophy |
| HP:0007016 | Corticospinal tract hypoplasia |
| HP:0008361 | Corticospinal tract pallor |
| HP:0011737 | Corticotropin-releasing hormone deficient adrenal insufficiency |
| HP:0011738 | Corticotropin-releasing hormone receptor defect |
| HP:0006646 | Costal cartilage calcification |
| HP:0006623 | Costochondral joint sclerosis |
| HP:0006649 | Costochondral pain |
| HP:0012735 | Cough |
| HP:0100327 | Cow milk allergy |
| HP:0003279 | Coxa magna |
| HP:0002673 | Coxa valga |
| HP:0002812 | Coxa vara |
| HP:0000267 | Cranial asymmetry |
| HP:0004437 | Cranial hyperostosis |
| HP:0001293 | Cranial nerve compression |
| HP:0007097 | Cranial nerve motor loss |
| HP:0006824 | Cranial nerve paralysis |
| HP:0006897 | Cranial nerve VI palsy |
| HP:0004484 | Craniofacial asymmetry |
| HP:0005461 | Craniofacial disproportion |
| HP:0004439 | Craniofacial dysostosis |
| HP:0012179 | Craniofacial dystonia |
| HP:0004493 | Craniofacial hyperostosis |
| HP:0005464 | Craniofacial osteosclerosis |
| HP:0030770 | Craniorachischisis |
| HP:0001363 | Craniosynostosis |
| HP:0004423 | Cranium bifidum occultum |
| HP:0008653 | Crescentic glomerulonephritis |
| HP:0011262 | Crimped helix |
| HP:0011541 | Criss-cross atrioventricular valves |
| HP:0011542 | Criss-cross atrioventricular valves with superior-inferior ventricles |
| HP:0100280 | Crohn's disease |
| HP:0003958 | Cross-fusion of the forearm bones |
| HP:0004736 | Crossed fused renal ectopia |
| HP:0006180 | Crowded carpal bones |
| HP:0006333 | Crowded maxillary incisors |
| HP:0009901 | Crumpled ear |
| HP:0003870 | Crumpled humerus |
| HP:0006367 | Crumpled long bones |
| HP:0011256 | Crus of helix connected to antihelix |
| HP:0007473 | Crusting erythematous dermatitis |
| HP:0100778 | Cryoglobulinemia |
| HP:0001126 | Cryptophthalmos |
| HP:0000028 | Cryptorchidism |
| HP:0011252 | Cryptotia |
| HP:0007760 | Crystalline corneal dystrophy |
| HP:0200149 | CSF lymphocytic pleiocytosis |
| HP:0012229 | CSF pleocytosis |
| HP:0012756 | CSF polymorphonuclear pleocytosis |
| HP:0002967 | Cubitus valgus |
| HP:0025317 | Cubitus varus |
| HP:0008425 | Cuboid-shaped thoracolumbar vertebral bodies |
| HP:0004634 | Cuboid-shaped vertebral bodies |
| HP:0006011 | Cuboidal metacarpal |
| HP:0000378 | Cupped ear |
| HP:0004273 | Cupped metaphyses of hand bones |
| HP:0003848 | Cupped metaphyses of the upper limbs |
| HP:0004016 | Cupped radial metaphyses |
| HP:0000887 | Cupped ribs |
| HP:0004041 | Cupped ulnar metaphysis |
| HP:0007665 | Curly eyelashes |
| HP:0002212 | Curly hair |
| HP:0010029 | Curved 1st metacarpal |
| HP:0010070 | Curved 1st metatarsal |
| HP:0010350 | Curved 2nd toe phalanx |
| HP:0010362 | Curved 3rd toe phalanx |
| HP:0010374 | Curved 4th toe phalanx |
| HP:0010386 | Curved 5th toe phalanx |
| HP:0009838 | Curved distal phalanges of the hand |
| HP:0009560 | Curved distal phalanx of the 2nd finger |
| HP:0010416 | Curved distal phalanx of the 2nd toe |
| HP:0009428 | Curved distal phalanx of the 3rd finger |
| HP:0100449 | Curved distal phalanx of the 3rd toe |
| HP:0009286 | Curved distal phalanx of the 4th finger |
| HP:0100450 | Curved distal phalanx of the 4th toe |
| HP:0004226 | Curved distal phalanx of the 5th finger |
| HP:0100451 | Curved distal phalanx of the 5th toe |
| HP:0010079 | Curved distal phalanx of the hallux |
| HP:0009644 | Curved distal phalanx of the thumb |
| HP:0010188 | Curved distal toe phalanx |
| HP:0004095 | Curved fingers |
| HP:0010061 | Curved hallux phalanx |
| HP:0002055 | Curved linear dimple below the lower lip |
| HP:0009846 | Curved middle phalanges of the hand |
| HP:0009571 | Curved middle phalanx of the 2nd finger |
| HP:0010407 | Curved middle phalanx of the 2nd toe |
| HP:0009432 | Curved middle phalanx of the 3rd finger |
| HP:0100443 | Curved middle phalanx of the 3rd toe |
| HP:0009287 | Curved middle phalanx of the 4th finger |
| HP:0100444 | Curved middle phalanx of the 4th toe |
| HP:0009173 | Curved middle phalanx of the 5th finger |
| HP:0100445 | Curved middle phalanx of the 5th toe |
| HP:0010197 | Curved middle toe phalanx |
| HP:0004033 | Curved olecranon |
| HP:0009549 | Curved phalanges of the 2nd finger |
| HP:0009442 | Curved phalanges of the 3rd finger |
| HP:0009285 | Curved phalanges of the 4th finger |
| HP:0004214 | Curved phalanges of the 5th finger |
| HP:0009770 | Curved phalanges of the hand |
| HP:0009854 | Curved proximal phalanges of the hand |
| HP:0009583 | Curved proximal phalanx of the 2nd finger |
| HP:0010398 | Curved proximal phalanx of the 2nd toe |
| HP:0009452 | Curved proximal phalanx of the 3rd finger |
| HP:0100446 | Curved proximal phalanx of the 3rd toe |
| HP:0009288 | Curved proximal phalanx of the 4th finger |
| HP:0100447 | Curved proximal phalanx of the 4th toe |
| HP:0009229 | Curved proximal phalanx of the 5th finger |
| HP:0100448 | Curved proximal phalanx of the 5th toe |
| HP:0010088 | Curved proximal phalanx of the hallux |
| HP:0009632 | Curved proximal phalanx of the thumb |
| HP:0010206 | Curved proximal toe phalanx |
| HP:0009653 | Curved thumb phalanx |
| HP:0010176 | Curved toe phalanx |
| HP:0003205 | Curvilinear intracellular accumulation of autofluorescent lipopigment storage material |
| HP:0012309 | Cutaneous amyloidosis |
| HP:0002965 | Cutaneous anergy |
| HP:0040101 | Cutaneous atresia of the external auditory canal |
| HP:0025245 | Cutaneous cyst |
| HP:0010554 | Cutaneous finger syndactyly |
| HP:0000992 | Cutaneous photosensitivity |
| HP:0040103 | Cutaneous stenosis of the external auditory canal |
| HP:0012725 | Cutaneous syndactyly |
| HP:0005650 | Cutaneous syndactyly between fingers 2 and 5 |
| HP:0010621 | Cutaneous syndactyly of toes |
| HP:0010541 | Cutis gyrata of scalp |
| HP:0000973 | Cutis laxa |
| HP:0000965 | Cutis marmorata |
| HP:0025107 | Cutis marmorata telangiectatica congenita |
| HP:0000961 | Cyanosis |
| HP:0200048 | Cyanotic episode |
| HP:0009914 | Cyclopia |
| HP:0012615 | Cylindruria |
| HP:0100890 | Cyst of the ductus choledochus |
| HP:0010604 | Cyst of the eyelid |
| HP:0003286 | Cystathioninemia |
| HP:0003153 | Cystathioninuria |
| HP:0002833 | Cystic angiomatosis of bone |
| HP:0030170 | Cystic artery pseudoaneurysm |
| HP:0000476 | Cystic hygroma |
| HP:0010723 | Cystic lesions of the pinnae |
| HP:0006706 | Cystic liver disease |
| HP:0005948 | Cystic lung disease |
| HP:0012180 | Cystic medial necrosis |
| HP:0200146 | Cystic medial necrosis of the aorta |
| HP:0000800 | Cystic renal dysplasia |
| HP:0007667 | Cystic retinal degeneration |
| HP:0003131 | Cystinuria |
| HP:0100645 | Cystocele |
| HP:0008028 | Cystoid macular degeneration |
| HP:0011505 | Cystoid macular edema |
| HP:0040146 | D-2-hydroxyglutaric acidemia |
| HP:0012321 | D-2-hydroxyglutaric aciduria |
| HP:0000620 | Dacryocystitis |
| HP:0030752 | Dacryocystocele |
| HP:0010820 | Dacrystic seizures |
| HP:0006302 | Dagger-shaped pulp calcifications |
| HP:0001305 | Dandy-Walker malformation |
| HP:0025081 | Darier's sign |
| HP:0025148 | Dark choroid |
| HP:0011260 | Darwin notch of helix |
| HP:0011261 | Darwin tubercle of helix |
| HP:0025013 | Decerebrate rigidity |
| HP:0011444 | Decorticate rigidity |
| HP:0040225 | Decrease in high molecular weight von Willebrand factor Multimers |
| HP:0005403 | Decrease in T cell count |
| HP:0009072 | Decreased Achilles reflex |
| HP:0003688 | Decreased activity of cytochrome C oxidase in muscle tissue |
| HP:0011925 | Decreased activity of mitochondrial ATP synthase complex |
| HP:0011923 | Decreased activity of mitochondrial complex I |
| HP:0008314 | Decreased activity of mitochondrial complex II |
| HP:0011924 | Decreased activity of mitochondrial complex III |
| HP:0008347 | Decreased activity of mitochondrial complex IV |
| HP:0008972 | Decreased activity of mitochondrial respiratory chain |
| HP:0003206 | Decreased activity of NADPH oxidase |
| HP:0002928 | Decreased activity of the pyruvate dehydrogenase complex |
| HP:0003145 | Decreased adenosylcobalamin |
| HP:0030685 | Decreased adiponectin level |
| HP:0040063 | Decreased adipose tissue |
| HP:0005995 | Decreased adipose tissue around neck |
| HP:0007078 | Decreased amplitude of sensory action potentials |
| HP:0005638 | Decreased anterioposterior diameter of lumbar vertebral bodies |
| HP:0004313 | Decreased antibody level in blood |
| HP:0008179 | Decreased Arden ratio of electrooculogram |
| HP:0008166 | Decreased beta-galactosidase activity |
| HP:0003656 | Decreased beta-glucocerebrosidase protein and activity |
| HP:0045082 | Decreased body mass index |
| HP:0004325 | Decreased body weight |
| HP:0005474 | Decreased calvarial ossification |
| HP:0045061 | Decreased carnitine level in liver |
| HP:0004049 | Decreased carpal angles of wrist |
| HP:0004631 | Decreased cervical spine flexion due to contractures of posterior cervical muscles |
| HP:0004637 | Decreased cervical spine mobility |
| HP:0002920 | Decreased circulating ACTH level |
| HP:0004319 | Decreased circulating aldosterone level |
| HP:0030349 | Decreased circulating androgen level |
| HP:0025347 | Decreased circulating beta-2-microglobulin level |
| HP:0008163 | Decreased circulating cortisol level |
| HP:0030341 | Decreased circulating follicle stimulating hormone level |
| HP:0030339 | Decreased circulating gonadotropin level |
| HP:0030344 | Decreased circulating luteinizing hormone level |
| HP:0003351 | Decreased circulating renin level |
| HP:0030388 | Decreased class-switched memory B cell count |
| HP:0008000 | Decreased corneal reflex |
| HP:0012155 | Decreased corneal sensation |
| HP:0100689 | Decreased corneal thickness |
| HP:0005451 | Decreased cranial base ossification |
| HP:0030861 | Decreased CSF amyloid level |
| HP:0040209 | Decreased CSF biopterin level |
| HP:0003785 | Decreased CSF homovanillic acid |
| HP:0040205 | Decreased CSF neopterin level |
| HP:0007230 | Decreased distal sensory nerve action potential |
| HP:0045051 | Decreased DLCO |
| HP:0025022 | Decreased erythrocyte sedimentation rate |
| HP:0004673 | Decreased facial expression |
| HP:0030018 | Decreased female libido |
| HP:0000144 | Decreased fertility |
| HP:0000868 | Decreased fertility in females |
| HP:0012041 | Decreased fertility in males |
| HP:0001558 | Decreased fetal movement |
| HP:0006135 | Decreased finger mobility |
| HP:0012353 | Decreased fucosylation of N-linked protein glycosylation |
| HP:0012360 | Decreased fucosylation of O-linked protein glycosylation |
| HP:0003536 | Decreased fumarate hydratase activity |
| HP:0012348 | Decreased galactosylation of N-linked protein glycosylation |
| HP:0012213 | Decreased glomerular filtration rate |
| HP:0030689 | Decreased glucagon level |
| HP:0040270 | Decreased glucose tolerance |
| HP:0003568 | Decreased glucosephosphate isomerase activity |
| HP:0040195 | Decreased head circumference |
| HP:0003184 | Decreased hip abduction |
| HP:0030378 | Decreased immature B cell count |
| HP:0012648 | Decreased inflammatory response |
| HP:0030897 | Decreased intestinal transit time |
| HP:0012641 | Decreased intracranial pressure |
| HP:0000633 | Decreased lacrimation |
| HP:0040226 | Decreased level of heparin co-factor II |
| HP:0040227 | Decreased level of histidine-rich glycoprotein |
| HP:0040228 | Decreased level of plasminogen |
| HP:0040179 | Decreased level of platelet-activating factor |
| HP:0040229 | Decreased level of thrombomodulin |
| HP:0040230 | Decreased level of tissue plasminogen activator |
| HP:0045046 | Decreased levels of acid labile subunit |
| HP:0045057 | Decreased levels of alpha-fetoprotein |
| HP:0000654 | Decreased light- and dark-adapted electroretinogram amplitude |
| HP:0001410 | Decreased liver function |
| HP:0002731 | Decreased lymphocyte apoptosis |
| HP:0012356 | Decreased mannosylation of N-linked protein glycosylation |
| HP:0030384 | Decreased marginal zone B cell count |
| HP:0025066 | Decreased mean corpuscular volume |
| HP:0005537 | Decreased mean platelet volume |
| HP:0030374 | Decreased memory B cell count |
| HP:0003524 | Decreased methionine synthase activity |
| HP:0003223 | Decreased methylcobalamin |
| HP:0003210 | Decreased methylmalonyl-CoA mutase activity |
| HP:0003402 | Decreased miniature endplate potentials |
| HP:0006558 | Decreased mitochondrial complex III activity in liver tissue |
| HP:0040013 | Decreased mitochondrial number |
| HP:0006169 | Decreased mobility 3rd-5th fingers |
| HP:0003431 | Decreased motor nerve conduction velocity |
| HP:0006203 | Decreased movement range in interphalangeal joints |
| HP:0012270 | Decreased muscle glycogen content |
| HP:0003199 | Decreased muscle mass |
| HP:0030372 | Decreased naive B cell count |
| HP:0000762 | Decreased nerve conduction velocity |
| HP:0045080 | Decreased number of CD3+ T cells |
| HP:0005407 | Decreased number of CD4+ T cells |
| HP:0005415 | Decreased number of CD8+ T cells |
| HP:0003387 | Decreased number of large peripheral myelinated nerve fibers |
| HP:0003380 | Decreased number of peripheral myelinated nerve fibers |
| HP:0007249 | Decreased number of small peripheral myelinated nerve fibers |
| HP:0006611 | Decreased number of sternal ossification centers |
| HP:0007500 | Decreased number of sweat glands |
| HP:0030305 | Decreased number of vertebrae |
| HP:0005563 | Decreased numbers of nephrons |
| HP:0030328 | Decreased osteoclast count |
| HP:0006184 | Decreased palmar creases |
| HP:0011808 | Decreased patellar reflex |
| HP:0012685 | Decreased pineal volume |
| HP:0003234 | Decreased plasma carnitine |
| HP:0008315 | Decreased plasma free carnitine |
| HP:0011936 | Decreased plasma total carnitine |
| HP:0011879 | Decreased platelet glycoprotein Ib-IX-V |
| HP:0001975 | Decreased platelet glycoprotein IIb-IIIa |
| HP:0011881 | Decreased platelet glycoprotein VI |
| HP:0011882 | Decreased platelet P2Y12 receptor |
| HP:0005952 | Decreased pulmonary function |
| HP:0004369 | Decreased purine levels |
| HP:0003209 | Decreased pyruvate carboxylase activity |
| HP:0025077 | Decreased QRS voltage |
| HP:0025327 | Decreased renal parenchymal thickness |
| HP:0005572 | Decreased renal tubular phosphate excretion |
| HP:0012340 | Decreased resting energy expenditure |
| HP:0012858 | Decreased scrotal rugation |
| HP:0005947 | Decreased sensitivity to hypoxemia |
| HP:0003448 | Decreased sensory nerve conduction velocity |
| HP:0010837 | Decreased serum ceruloplasmin |
| HP:0005421 | Decreased serum complement C3 |
| HP:0045042 | Decreased serum complement C4 |
| HP:0045043 | Decreased serum complement C4a |
| HP:0045044 | Decreased serum complement C4b |
| HP:0012308 | Decreased serum complement C9 |
| HP:0005416 | Decreased serum complement factor B |
| HP:0005369 | Decreased serum complement factor H |
| HP:0005356 | Decreased serum complement factor I |
| HP:0012101 | Decreased serum creatinine |
| HP:0008214 | Decreased serum estradiol |
| HP:0025137 | Decreased serum estriol |
| HP:0025140 | Decreased serum estrone |
| HP:0012343 | Decreased serum ferritin |
| HP:0030353 | Decreased serum insulin-like growth factor 1 |
| HP:0003292 | Decreased serum leptin |
| HP:0008233 | Decreased serum progesterone |
| HP:0040171 | Decreased serum testosterone level |
| HP:0012350 | Decreased sialylation of N-linked protein glycosylation |
| HP:0012363 | Decreased sialylation of O-linked protein glycosylation |
| HP:0040260 | Decreased size of nasopharyngeal adenoids |
| HP:0003443 | Decreased size of nerve terminals |
| HP:0040254 | Decreased size of the clitoris |
| HP:0004331 | Decreased skull ossification |
| HP:0025130 | Decreased small intestinal mucosa lactase activity |
| HP:0007480 | Decreased sweating due to autonomic dysfunction |
| HP:0005419 | Decreased T cell activation |
| HP:0012560 | Decreased T3/T4 ratio |
| HP:0000224 | Decreased taste sensation |
| HP:0008734 | Decreased testicular size |
| HP:0008230 | Decreased testosterone in males |
| HP:0012695 | Decreased thalamic volume |
| HP:0012464 | Decreased transferrin saturation |
| HP:0030380 | Decreased transitional B cell count |
| HP:0045012 | Decreased urinary catecholamine concentration |
| HP:0045035 | Decreased urinary copper concentration |
| HP:0045013 | Decreased urinary glucose concentration |
| HP:0012364 | Decreased urinary potassium |
| HP:0003359 | Decreased urinary sulfate |
| HP:0011935 | Decreased urinary urate |
| HP:0012403 | Decreased urine alpha-ketoglutarate concentration |
| HP:0045011 | Decreased urine bicarbonate concentration |
| HP:0011037 | Decreased urine output |
| HP:0200101 | Decreased/absent ankle reflexes |
| HP:0007765 | Deep anterior chamber |
| HP:0030892 | Deep cerebral white matter hyperdensities |
| HP:0025340 | Deep episcleral hyperemia |
| HP:0004681 | Deep longitudinal plantar crease |
| HP:0006191 | Deep palmar crease |
| HP:0002002 | Deep philtrum |
| HP:0001869 | Deep plantar creases |
| HP:0002625 | Deep venous thrombosis |
| HP:0007321 | Deep white matter hypodensities |
| HP:0001814 | Deep-set nails |
| HP:0000490 | Deeply set eye |
| HP:0430011 | Defect of palpebral conjunctiva |
| HP:0005384 | Defective B cell activation |
| HP:0005357 | Defective B cell differentiation |
| HP:0003490 | Defective dehydrogenation of isovaleryl CoA and butyryl CoA |
| HP:0003079 | Defective DNA repair after ultraviolet radiation damage |
| HP:0011114 | Defective production of NFKB1-dependent cytokines |
| HP:0030253 | Defective T cell proliferation |
| HP:0003264 | Deficiency of N-acetylglucosamine-1-phosphotransferase |
| HP:0003514 | Deficiency or absence of cytochrome b(-245) |
| HP:0003213 | Deficient excision of UV-induced pyrimidine dimers in DNA |
| HP:0004274 | Deficient ossification of hand bones |
| HP:0002526 | Deficit in nonword repetition |
| HP:0002549 | Deficit in phonologic short-term memory |
| HP:0003959 | Deformed forearm bones |
| HP:0005687 | Deformed humeral heads |
| HP:0003871 | Deformed humerus |
| HP:0003977 | Deformed radius |
| HP:0000886 | Deformed rib cage |
| HP:0002681 | Deformed sella turcica |
| HP:0008119 | Deformed tarsal bones |
| HP:0002398 | Degeneration of anterior horn cells |
| HP:0002314 | Degeneration of the lateral corticospinal tracts |
| HP:0040140 | Degeneration of the striatum |
| HP:0005237 | Degenerative liver disease |
| HP:0007964 | Degenerative vitreoretinopathy |
| HP:0001944 | Dehydration |
| HP:0012005 | Deja vu |
| HP:0025336 | Delayed ability to sit |
| HP:0025335 | Delayed ability to stand |
| HP:0008142 | Delayed calcaneal ossification |
| HP:0001476 | Delayed closure of the anterior fontanelle |
| HP:0002188 | Delayed CNS myelination |
| HP:0000270 | Delayed cranial suture closure |
| HP:0003947 | Delayed elbow epiphyseal ossification |
| HP:0002663 | Delayed epiphyseal ossification |
| HP:0000696 | Delayed eruption of permanent teeth |
| HP:0000680 | Delayed eruption of primary teeth |
| HP:0000684 | Delayed eruption of teeth |
| HP:0008829 | Delayed femoral head ossification |
| HP:0010862 | Delayed fine motor development |
| HP:0002194 | Delayed gross motor development |
| HP:0003894 | Delayed humeral epiphyseal ossification |
| HP:0012569 | Delayed menarche |
| HP:0012448 | Delayed myelination |
| HP:0040232 | Delayed onset bleeding |
| HP:0001216 | Delayed ossification of carpal bones |
| HP:0008785 | Delayed ossification of pubic rami |
| HP:0004052 | Delayed ossification of the hand bones |
| HP:0025371 | Delayed ossification of the sacrum |
| HP:0004246 | Delayed ossification of the scaphoid |
| HP:0004254 | Delayed ossification of the trapezium |
| HP:0004257 | Delayed ossification of the trapezoid bone |
| HP:0012711 | Delayed ossification of vertebral epiphysis |
| HP:0003533 | Delayed oxidation of acetaldehyde |
| HP:0006454 | Delayed patellar ossification |
| HP:0011401 | Delayed peripheral myelination |
| HP:0006016 | Delayed phalangeal epiphyseal ossification |
| HP:0005906 | Delayed pneumatization of the mastoid process |
| HP:0008828 | Delayed proximal femoral epiphyseal ossification |
| HP:0000823 | Delayed puberty |
| HP:0008788 | Delayed pubic bone ossification |
| HP:0025087 | Delayed recoil upon stretching of skin {xref="PMID:23919031"} |
| HP:0012381 | Delayed self-feeding during toddler years |
| HP:0002750 | Delayed skeletal maturation |
| HP:0012434 | Delayed social development |
| HP:0000750 | Delayed speech and language development |
| HP:0011836 | Delayed talus ossification |
| HP:0008103 | Delayed tarsal ossification |
| HP:0003840 | Delayed upper limb epiphyseal ossification |
| HP:0030366 | Delivery by Odon device |
| HP:0000746 | Delusions |
| HP:0000726 | Dementia |
| HP:0007220 | Demyelinating motor neuropathy |
| HP:0007108 | Demyelinating peripheral neuropathy |
| HP:0011402 | Demyelinating sensory neuropathy |
| HP:0009109 | Denervation of the diaphragm |
| HP:0011088 | Dens in dente |
| HP:0002461 | Dense calcifications in the cerebellar dentate nucleus |
| HP:0000250 | Dense calvaria |
| HP:0100959 | Dense metaphyseal bands |
| HP:0007948 | Dense posterior cortical cataract |
| HP:0000678 | Dental crowding |
| HP:0009722 | Dental enamel pits |
| HP:0000689 | Dental malocclusion |
| HP:0000703 | Dentinogenesis imperfecta |
| HP:0011060 | Dentinogenesis imperfecta limited to primary teeth |
| HP:0011086 | Dentinogenesis imperfecta of primary and permanent teeth |
| HP:0025156 | Dependency on intravenous nutrition |
| HP:0007483 | Depigmentation/hyperpigmentation of skin |
| HP:0007680 | Depigmented fundus |
| HP:0005389 | Depletion of components of the alternative complement pathway |
| HP:0006581 | Depletion of mitochondrial DNA in liver |
| HP:0009141 | Depletion of mitochondrial DNA in muscle tissue |
| HP:0003791 | Deposits immunoreactive to beta-amyloid protein |
| HP:0011222 | Depressed glabella |
| HP:0005280 | Depressed nasal bridge |
| HP:0000457 | Depressed nasal ridge |
| HP:0000437 | Depressed nasal tip |
| HP:0000716 | Depression |
| HP:0004334 | Dermal atrophy |
| HP:0010648 | Dermal translucency |
| HP:0008301 | Dermatan sulfate excretion in urine |
| HP:0010750 | Dermatochalasis |
| HP:0005689 | Dermatoglyphic ridges abnormal |
| HP:0005882 | Dermatoglyphic variants |
| HP:0011971 | Dermatographic urticaria |
| HP:0001005 | Dermatological manifestations of systemic disorders |
| HP:0025247 | Dermoid cyst |
| HP:0012039 | Descemet Membrane Folds |
| HP:0004954 | Descending aortic aneurysm |
| HP:0012499 | Descending aortic dissection |
| HP:0100300 | Desmin bodies |
| HP:0007549 | Desquamation of skin soon after birth |
| HP:0005942 | Desquamative interstitial pneumonitis |
| HP:0011520 | Deuteranomaly |
| HP:0011521 | Deuteranopia |
| HP:0002376 | Developmental regression |
| HP:0007281 | Developmental stagnation |
| HP:0006834 | Developmental stagnation at onset of seizures |
| HP:0004411 | Deviated nasal septum |
| HP:0011831 | Deviated nasal tip |
| HP:0004097 | Deviation of finger |
| HP:0009468 | Deviation of the 2nd finger |
| HP:0010326 | Deviation of the 2nd toe |
| HP:0009317 | Deviation of the 3rd finger |
| HP:0010332 | Deviation of the 3rd toe |
| HP:0009273 | Deviation of the 4th finger |
| HP:0010338 | Deviation of the 4th toe |
| HP:0009179 | Deviation of the 5th finger |
| HP:0010344 | Deviation of the 5th toe |
| HP:0010051 | Deviation of the hallux |
| HP:0009484 | Deviation of the hand or of fingers of the hand |
| HP:0009603 | Deviation of the thumb |
| HP:0100498 | Deviation of toes |
| HP:0011739 | Dexamethasone-suppresible primary hyperaldosteronism |
| HP:0001651 | Dextrocardia |
| HP:0000873 | Diabetes insipidus |
| HP:0000819 | Diabetes mellitus |
| HP:0001953 | Diabetic ketoacidosis |
| HP:0011146 | Dialeptic seizures |
| HP:0008339 | Diaminoaciduria |
| HP:0009110 | Diaphragmatic eventration |
| HP:0006597 | Diaphragmatic paralysis |
| HP:0009113 | Diaphragmatic weakness |
| HP:0005045 | Diaphyseal cortical sclerosis |
| HP:0100252 | Diaphyseal dysplasia |
| HP:0003034 | Diaphyseal sclerosis |
| HP:0003860 | Diaphyseal sclerosis of the upper limbs |
| HP:0005019 | Diaphyseal thickening |
| HP:0002014 | Diarrhea |
| HP:0001540 | Diastasis recti |
| HP:0000699 | Diastema |
| HP:0100563 | Diastomatomyelia |
| HP:0003168 | Dibasicaminoaciduria |
| HP:0040145 | Dicarboxylic acidemia |
| HP:0003215 | Dicarboxylic aciduria |
| HP:0011518 | Dichromacy |
| HP:0030514 | Difficulty adjusting from dark to light |
| HP:0030513 | Difficulty adjusting from light to dark |
| HP:0030512 | Difficulty adjusting to changes in luminance |
| HP:0003551 | Difficulty climbing stairs |
| HP:0000183 | Difficulty in tongue movements |
| HP:0009046 | Difficulty running |
| HP:0003698 | Difficulty standing |
| HP:0002355 | Difficulty walking |
| HP:0003405 | Diffuse axonal swelling |
| HP:0100275 | Diffuse cerebellar atrophy |
| HP:0002506 | Diffuse cerebral atrophy |
| HP:0005849 | Diffuse cerebral calcification |
| HP:0006918 | Diffuse cerebral sclerosis |
| HP:0007162 | Diffuse demyelination of the cerebral white matter |
| HP:0030034 | Diffuse glomerular basement membrane lamellation |
| HP:0006555 | Diffuse hepatic steatosis |
| HP:0006994 | Diffuse leukoencephalopathy |
| HP:0001967 | Diffuse mesangial sclerosis |
| HP:0007657 | Diffuse nuclear cataract |
| HP:0012512 | Diffuse optic disc pallor |
| HP:0007447 | Diffuse palmoplantar hyperkeratosis |
| HP:0007435 | Diffuse palmoplantar keratoderma |
| HP:0006881 | Diffuse peripheral demyelination |
| HP:0002207 | Diffuse reticular or finely nodular infiltrations |
| HP:0007829 | Diffuse retinal cone degeneration |
| HP:0007488 | Diffuse skin atrophy |
| HP:0007504 | Diffuse slow skin atrophy |
| HP:0006943 | Diffuse spongiform leukoencephalopathy |
| HP:0007341 | Diffuse swelling of cerebral white matter |
| HP:0007489 | Diffuse telangiectasia |
| HP:0007204 | Diffuse white matter abnormalities |
| HP:0010491 | Digital constriction ring |
| HP:0012276 | Digital flexor tenosynovitis |
| HP:0004458 | Dilatated internal auditory canal |
| HP:0100581 | Dilatation of renal calices |
| HP:0005112 | Dilatation of the abdominal aorta |
| HP:0005113 | Dilatation of the aortic arch |
| HP:0005111 | Dilatation of the ascending aorta |
| HP:0010955 | Dilatation of the bladder |
| HP:0004959 | Dilatation of the descending thoracic aorta |
| HP:0010946 | Dilatation of the renal pelvis |
| HP:0001644 | Dilated cardiomyopathy |
| HP:0002198 | Dilated fourth ventricle |
| HP:0030168 | Dilated superficial abdominal veins |
| HP:0007082 | Dilated third ventricle |
| HP:0011379 | Dilated vestibule of the inner ear |
| HP:0006956 | Dilation of lateral ventricles |
| HP:0000745 | Diminished motivation |
| HP:0002374 | Diminished movement |
| HP:0004132 | Dimple on nasal tip |
| HP:0100562 | Diplomyelia |
| HP:0000651 | Diplopia |
| HP:0004591 | Disc-like vertebral bodies |
| HP:0025094 | Disciform macular scar |
| HP:0007417 | Discoid lupus rash |
| HP:0006290 | Discolored lateral incisors |
| HP:0011264 | Discontinuous ascending root of helix |
| HP:0011553 | Discordant atrioventricular connection |
| HP:0007494 | Discrete 2 to 5-mm hyper- and hypopigmented macules |
| HP:0006153 | Disharmonious carpal bone |
| HP:0000734 | Disinhibition |
| HP:0003083 | Dislocated radial head |
| HP:0003994 | Dislocated wrist |
| HP:0008826 | Dislocation of the femoral head |
| HP:0008141 | Dislocation of toes |
| HP:0007065 | Disorganization of the anterior cerebellar vermis |
| HP:0100627 | Displacement of the external urethral meatus |
| HP:0006437 | Disproportionate prominence of the femoral medial condyle |
| HP:0003498 | Disproportionate short stature |
| HP:0008873 | Disproportionate short-limb short stature |
| HP:0003521 | Disproportionate short-trunk short stature |
| HP:0005766 | Disproportionate shortening of the tibia |
| HP:0001519 | Disproportionate tall stature |
| HP:0002622 | Dissecting aortic aneurysm |
| HP:0005521 | Disseminated intravascular coagulation |
| HP:0010835 | Dissociated sensory loss |
| HP:0003693 | Distal amyotrophy |
| HP:0005684 | Distal arthrogryposis |
| HP:0005096 | Distal femoral bowing |
| HP:0030299 | Distal femoral metaphyseal abnormality |
| HP:0045079 | Distal femoral metaphyseal irregularity |
| HP:0001859 | Distal foot symphalangism |
| HP:0003951 | Distal humeral metaphyseal irregularity |
| HP:0200116 | Distal ileal atresia |
| HP:0008944 | Distal lower limb amyotrophy |
| HP:0009053 | Distal lower limb muscle weakness |
| HP:0002460 | Distal muscle weakness |
| HP:0007067 | Distal peripheral sensory neuropathy |
| HP:0006449 | Distal radial epiphyseal osteolysis |
| HP:0008341 | Distal renal tubular acidosis |
| HP:0002936 | Distal sensory impairment |
| HP:0003409 | Distal sensory impairment of all modalities |
| HP:0006984 | Distal sensory loss of all modalities |
| HP:0006402 | Distal shortening of limbs |
| HP:0100263 | Distal symphalangism |
| HP:0001204 | Distal symphalangism of hands |
| HP:0006408 | Distal tapering femur |
| HP:0008133 | Distal tapering of metatarsals |
| HP:0006414 | Distal tibial bowing |
| HP:0006370 | Distal ulnar epiphyseal stippling |
| HP:0005033 | Distal ulnar hypoplasia |
| HP:0007149 | Distal upper limb amyotrophy |
| HP:0040267 | Distal upper limb muscle hypertrophy |
| HP:0008959 | Distal upper limb muscle weakness |
| HP:0008706 | Distal urethral duplication |
| HP:0006048 | Distal widening of metacarpals |
| HP:0009563 | Distal/middle symphalangism of 2nd finger |
| HP:0009426 | Distal/middle symphalangism of 3rd finger |
| HP:0009305 | Distal/middle symphalangism of 4th finger |
| HP:0009244 | Distal/middle symphalangism of 5th finger |
| HP:0009622 | Distally placed thumb |
| HP:0009743 | Distichiasis |
| HP:0005324 | Disturbance of facial expression |
| HP:0030691 | Divergence nystagmus |
| HP:0006509 | Diverticulosis of trachea |
| HP:0000268 | Dolichocephaly |
| HP:0000295 | Doll-like facies |
| HP:0007006 | Dorsal column degeneration |
| HP:0006459 | Dorsal subluxation of ulna |
| HP:0025242 | Dot-and-blot retinal hemorrhage |
| HP:0011590 | Double aortic arch |
| HP:0010730 | Double eyebrow |
| HP:0005894 | Double first metacarpals |
| HP:0011554 | Double inlet atrioventricular connection |
| HP:0011555 | Double inlet left ventricle |
| HP:0011556 | Double inlet right ventricle |
| HP:0011557 | Double inlet to single ventricle of indeterminate morphology |
| HP:0011558 | Double inlet to single ventricle with common atrioventricular orifice |
| HP:0011559 | Double inlet to single ventricle with two atrioventricular valves |
| HP:0011568 | Double orifice mitral valve |
| HP:0011581 | Double outlet left ventricle |
| HP:0001719 | Double outlet right ventricle |
| HP:0011651 | Double outlet right ventricle with doubly committed ventricular septal defect and pulmonary stenosis |
| HP:0011652 | Double outlet right ventricle with doubly committed ventricular septal defect without pulmonary stenosis |
| HP:0011653 | Double outlet right ventricle with non-committed ventricular septal defect and pulmonary stenosis |
| HP:0011654 | Double outlet right ventricle with non-committed ventricular septal defect without pulmonary stenosis |
| HP:0011655 | Double outlet right ventricle with subaortic ventricular septal defect and pulmonary stenosis |
| HP:0011656 | Double outlet right ventricle with subaortic ventricular septal defect without pulmonary stenosis |
| HP:0011657 | Double outlet right ventricle with subpulmonary ventricular septal defect and pulmonary stenosis |
| HP:0011658 | Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis |
| HP:0011089 | Double tooth |
| HP:0200021 | Down-sloping shoulders |
| HP:0010545 | Downbeat nystagmus |
| HP:0025330 | Downgaze palsy |
| HP:0000494 | Downslanted palpebral fissures |
| HP:0002714 | Downturned corners of mouth |
| HP:0002307 | Drooling |
| HP:0002329 | Drowsiness |
| HP:0012235 | Drug-induced agranulocytosis |
| HP:0004817 | Drug-sensitive hemolytic anemia |
| HP:0006129 | Drumstick terminal phalanges |
| HP:0011510 | Drusen |
| HP:0011359 | Dry hair |
| HP:0000958 | Dry skin |
| HP:0009921 | Duane anomaly |
| HP:0030745 | Ductus arteriosus aneurysm |
| HP:0006375 | Dumbbell-shaped femur |
| HP:0005009 | Dumbbell-shaped humerus |
| HP:0000947 | Dumbbell-shaped long bone |
| HP:0002810 | Dumbbell-shaped metaphyses |
| HP:0011465 | Duodenal aganglionosis |
| HP:0002247 | Duodenal atresia |
| HP:0012414 | Duodenal atrophy |
| HP:0004800 | Duodenal diverticula |
| HP:0100867 | Duodenal stenosis |
| HP:0002588 | Duodenal ulcer |
| HP:0030912 | Duplicated clitoris {comment="PMID:23650202"} |
| HP:0000081 | Duplicated collecting system |
| HP:0005223 | Duplicated colon |
| HP:0011270 | Duplicated tragus |
| HP:0009136 | Duplication involving bones of the feet |
| HP:0009142 | Duplication of bones involving the upper extremities |
| HP:0010193 | Duplication of distal phalanx of toe |
| HP:0004275 | Duplication of hand bones |
| HP:0005217 | Duplication of internal organs |
| HP:0001449 | Duplication of metatarsal bones |
| HP:0010202 | Duplication of middle phalanx of toe |
| HP:0009945 | Duplication of phalanx of 2nd finger |
| HP:0009959 | Duplication of phalanx of 3rd finger |
| HP:0009972 | Duplication of phalanx of 4th finger |
| HP:0009985 | Duplication of phalanx of 5th finger |
| HP:0010066 | Duplication of phalanx of hallux |
| HP:0009997 | Duplication of phalanx of hand |
| HP:0010367 | Duplication of phalanx of the 3rd toe |
| HP:0010379 | Duplication of phalanx of the 4th toe |
| HP:0010181 | Duplication of phalanx of toe |
| HP:0010211 | Duplication of proximal phalanx of toe |
| HP:0005580 | Duplication of renal pelvis |
| HP:0009609 | Duplication of the 1st metacarpal |
| HP:0010075 | Duplication of the 1st metatarsal |
| HP:0009883 | Duplication of the distal phalanx of hand |
| HP:0009948 | Duplication of the distal phalanx of the 2nd finger |
| HP:0010421 | Duplication of the distal phalanx of the 2nd toe |
| HP:0009962 | Duplication of the distal phalanx of the 3rd finger |
| HP:0100398 | Duplication of the distal phalanx of the 3rd toe |
| HP:0009975 | Duplication of the distal phalanx of the 4th finger |
| HP:0100399 | Duplication of the distal phalanx of the 4th toe |
| HP:0009988 | Duplication of the distal phalanx of the 5th finger |
| HP:0100400 | Duplication of the distal phalanx of the 5th toe |
| HP:0010084 | Duplication of the distal phalanx of the hallux |
| HP:0009612 | Duplication of the distal phalanx of the thumb |
| HP:0010008 | Duplication of the middle phalanx of hand |
| HP:0009949 | Duplication of the middle phalanx of the 2nd finger |
| HP:0010412 | Duplication of the middle phalanx of the 2nd toe |
| HP:0009963 | Duplication of the middle phalanx of the 3rd finger |
| HP:0100401 | Duplication of the middle phalanx of the 3rd toe |
| HP:0009976 | Duplication of the middle phalanx of the 4th finger |
| HP:0100402 | Duplication of the middle phalanx of the 4th toe |
| HP:0009989 | Duplication of the middle phalanx of the 5th finger |
| HP:0100403 | Duplication of the middle phalanx of the 5th toe |
| HP:0010355 | Duplication of the phalanges of the 2nd toe |
| HP:0010391 | Duplication of the phalanges of the 5th toe |
| HP:0010006 | Duplication of the proximal phalanx of hand |
| HP:0009947 | Duplication of the proximal phalanx of the 2nd finger |
| HP:0010403 | Duplication of the proximal phalanx of the 2nd toe |
| HP:0009964 | Duplication of the proximal phalanx of the 3rd finger |
| HP:0100404 | Duplication of the proximal phalanx of the 3rd toe |
| HP:0009977 | Duplication of the proximal phalanx of the 4th finger |
| HP:0100405 | Duplication of the proximal phalanx of the 4th toe |
| HP:0009990 | Duplication of the proximal phalanx of the 5th finger |
| HP:0100406 | Duplication of the proximal phalanx of the 5th toe |
| HP:0010093 | Duplication of the proximal phalanx of the hallux |
| HP:0009613 | Duplication of the proximal phalanx of the thumb |
| HP:0009942 | Duplication of thumb phalanx |
| HP:0005679 | Dupuytren contracture |
| HP:0100775 | Dural ectasia |
| HP:0012255 | Dynein arm defect of respiratory motile cilia |
| HP:0001260 | Dysarthria |
| HP:0002459 | Dysautonomia |
| HP:0002442 | Dyscalculia |
| HP:0007641 | Dyschromatopsia |
| HP:0002075 | Dysdiadochokinesis |
| HP:0012534 | Dysesthesia |
| HP:0011901 | Dysfibrinogenemia |
| HP:0007299 | Dysfunction of lateral corticospinal tracts |
| HP:0005423 | Dysfunctional alternative complement pathway |
| HP:0002961 | Dysgammaglobulinemia |
| HP:0025102 | Dysgenesis of the basal ganglia |
| HP:0002195 | Dysgenesis of the cerebellar vermis |
| HP:0025101 | Dysgenesis of the hippocampus |
| HP:0025098 | Dysgenesis of the hypothalamus |
| HP:0025099 | Dysgenesis of the thalamus |
| HP:0010526 | Dysgraphia |
| HP:0200001 | Dysharmonic accelerated bone age |
| HP:0200000 | Dysharmonic bone age |
| HP:0005832 | Dysharmonic delayed bone age |
| HP:0004053 | Dysharmonic maturation of the hand bones |
| HP:0100660 | Dyskinesia |
| HP:0010522 | Dyslexia |
| HP:0100607 | Dysmenorrhea |
| HP:0001310 | Dysmetria |
| HP:0000641 | Dysmetric saccades |
| HP:0012460 | Dysmorphic inferior cerebellar vermis |
| HP:0006978 | Dysmyelinating leukodystrophy |
| HP:0000943 | Dysostosis multiplex |
| HP:0030016 | Dyspareunia |
| HP:0002015 | Dysphagia |
| HP:0002357 | Dysphasia |
| HP:0001618 | Dysphonia |
| HP:0004589 | Dysplasia of second lumbar vertebra |
| HP:0010575 | Dysplasia of the femoral head |
| HP:0005176 | Dysplastic aortic valve |
| HP:0006989 | Dysplastic corpus callosum |
| HP:0005013 | Dysplastic distal radial epiphyses |
| HP:0005688 | Dysplastic distal thumb phalanges with a central hole |
| HP:0012134 | Dysplastic erythropoesis |
| HP:0012136 | Dysplastic granulopoesis |
| HP:0008794 | Dysplastic iliac wings |
| HP:0006446 | Dysplastic patella |
| HP:0005164 | Dysplastic pulmonary valve |
| HP:0006433 | Dysplastic radii |
| HP:0008455 | Dysplastic sacrum |
| HP:0008733 | Dysplastic testes |
| HP:0030732 | Dysplastic tricuspid valve |
| HP:0002094 | Dyspnea |
| HP:0010867 | Dyssynergia |
| HP:0001332 | Dystonia |
| HP:0040143 | Dystopic os odontoideum |
| HP:0008391 | Dystrophic fingernails |
| HP:0001810 | Dystrophic toenail |
| HP:0100518 | Dysuria |
| HP:0030766 | Ear pain |
| HP:0002234 | Early balding |
| HP:0007396 | Early cutaneous photosensitivity |
| HP:0011152 | Early onset absence seizures |
| HP:0100000 | Early onset of sexual maturation |
| HP:0008797 | Early ossification of capital femoral epiphyses |
| HP:0006694 | Early progressive calcific cardiac valvular disease |
| HP:0005747 | Easily subluxated first metacarpophalangeal joints |
| HP:0003388 | Easy fatigability |
| HP:0010316 | Ebstein's anomaly of the tricuspid valve |
| HP:0010943 | Echogenic fetal bowel |
| HP:0010942 | Echogenic intracardiac focus |
| HP:0010529 | Echolalia |
| HP:0012472 | Eclabion |
| HP:0100601 | Eclampsia |
| HP:0000968 | Ectodermal dysplasia |
| HP:0001683 | Ectopia cordis |
| HP:0001083 | Ectopia lentis |
| HP:0010452 | Ectopia of the spleen |
| HP:0009918 | Ectopia pupillae |
| HP:0010440 | Ectopic accesory toe-like appendage |
| HP:0010441 | Ectopic accessory finger-like appendage |
| HP:0011742 | Ectopic adrenal gland |
| HP:0012731 | Ectopic anterior pituitary gland |
| HP:0004397 | Ectopic anus |
| HP:0010766 | Ectopic calcification |
| HP:0430006 | Ectopic cilia of eyelid |
| HP:0025007 | Ectopic fovea |
| HP:0000086 | Ectopic kidney |
| HP:0010748 | Ectopic lacrimal punctum |
| HP:0030722 | Ectopic liver |
| HP:0011986 | Ectopic ossification |
| HP:0011989 | Ectopic ossification in ligament tissue |
| HP:0011987 | Ectopic ossification in muscle tissue |
| HP:0011988 | Ectopic ossification in tendon tissue |
| HP:0006278 | Ectopic pancreatic tissue |
| HP:0011769 | Ectopic parathyroid |
| HP:0011755 | Ectopic posterior pituitary |
| HP:0100241 | Ectopic respiratory mucosa |
| HP:0030275 | Ectopic scrotum |
| HP:0010517 | Ectopic thymus tissue |
| HP:0100028 | Ectopic thyroid |
| HP:0100257 | Ectrodactyly |
| HP:0000656 | Ectropion |
| HP:0007651 | Ectropion of lower eyelids |
| HP:0000964 | Eczema |
| HP:0000976 | Eczematoid dermatitis |
| HP:0000969 | Edema |
| HP:0012098 | Edema of the dorsum of feet |
| HP:0007514 | Edema of the dorsum of hands |
| HP:0010741 | Edema of the lower limbs |
| HP:0010742 | Edema of the upper limbs |
| HP:0002353 | EEG abnormality |
| HP:0011177 | EEG with 4-5/second background activity |
| HP:0011203 | EEG with abnormally slow frequencies |
| HP:0010851 | EEG with burst suppression |
| HP:0012009 | EEG with central focal spike waves |
| HP:0012014 | EEG with central focal spikes |
| HP:0011291 | EEG with central sharp slow waves |
| HP:0011293 | EEG with central sharp waves |
| HP:0012557 | EEG with centrotemporal focal spike waves |
| HP:0011201 | EEG with changes in voltage |
| HP:0011176 | EEG with constitutional variants |
| HP:0011204 | EEG with continuous slow activity |
| HP:0011202 | EEG with diffuse acceleration |
| HP:0011185 | EEG with focal epileptiform discharges |
| HP:0011195 | EEG with focal sharp slow waves |
| HP:0011196 | EEG with focal sharp waves |
| HP:0010843 | EEG with focal slow activity |
| HP:0011197 | EEG with focal spike waves |
| HP:0011193 | EEG with focal spikes |
| HP:0012010 | EEG with frontal focal spike waves |
| HP:0012015 | EEG with frontal focal spikes |
| HP:0011290 | EEG with frontal sharp slow waves |
| HP:0011294 | EEG with frontal sharp waves |
| HP:0011198 | EEG with generalized epileptiform discharges |
| HP:0010854 | EEG with generalized low amplitude activity |
| HP:0011200 | EEG with generalized polymorphic epileptiform discharges |
| HP:0012001 | EEG with generalized polyspikes |
| HP:0011199 | EEG with generalized sharp slow waves |
| HP:0010845 | EEG with generalized slow activity |
| HP:0011206 | EEG with generalized slow activity grade 1 |
| HP:0011207 | EEG with generalized slow activity grade 2 |
| HP:0011208 | EEG with generalized slow activity grade 3 |
| HP:0011209 | EEG with generalized slow activity grade 4 |
| HP:0012000 | EEG with generalized spikes |
| HP:0010858 | EEG with hyperventilation-induced epileptiform discharges |
| HP:0011183 | EEG with hyperventilation-induced focal epileptiform discharges |
| HP:0011184 | EEG with hyperventilation-induced generalized epileptiform discharges |
| HP:0011205 | EEG with intermittent slow activity |
| HP:0001326 | EEG with irregular generalized spike and wave complexes |
| HP:0010855 | EEG with localized low amplitude activity |
| HP:0010844 | EEG with multifocal slow activity |
| HP:0012011 | EEG with occipital focal spike waves |
| HP:0012016 | EEG with occipital focal spikes |
| HP:0011287 | EEG with occipital sharp slow waves |
| HP:0011292 | EEG with occipital sharp waves |
| HP:0011210 | EEG with occipital slowing |
| HP:0012012 | EEG with parietal focal spike waves |
| HP:0012017 | EEG with parietal focal spikes |
| HP:0011288 | EEG with parietal sharp slow waves |
| HP:0011295 | EEG with parietal sharp waves |
| HP:0010857 | EEG with periodic abnormalities |
| HP:0010856 | EEG with periodic complexes |
| HP:0010853 | EEG with periodic lateralized epileptiform discharges |
| HP:0010846 | EEG with persistent abnormal rhythmic activity |
| HP:0010852 | EEG with photoparoxysmal response |
| HP:0011211 | EEG with photoparoxysmal response grade I |
| HP:0011212 | EEG with photoparoxysmal response grade II |
| HP:0011213 | EEG with photoparoxysmal response grade III |
| HP:0011214 | EEG with photoparoxysmal response grade IV |
| HP:0002392 | EEG with polyspike wave complexes |
| HP:0011194 | EEG with series of focal spikes |
| HP:0010850 | EEG with spike-wave complexes |
| HP:0010849 | EEG with spike-wave complexes (>3.5 Hz) |
| HP:0010847 | EEG with spike-wave complexes (<2.5 Hz) |
| HP:0010848 | EEG with spike-wave complexes (2.5-3.5 Hz) |
| HP:0012013 | EEG with temporal focal spike waves |
| HP:0012018 | EEG with temporal focal spikes |
| HP:0011289 | EEG with temporal sharp slow waves |
| HP:0011296 | EEG with temporal sharp waves |
| HP:0004758 | Effort-induced polymorphic ventricular tachycardias |
| HP:0003070 | Elbow ankylosis |
| HP:0011728 | Elbow clonus |
| HP:0003042 | Elbow dislocation |
| HP:0002987 | Elbow flexion contracture |
| HP:0004780 | Elbow hypertrichosis |
| HP:0030835 | Elbow pain |
| HP:0025078 | Electrical alternans |
| HP:0003647 | Electron transfer flavoprotein-ubiquinone oxidoreductase defect |
| HP:0007984 | Electronegative electroretinogram |
| HP:0010569 | Elevated 7-dehydrocholesterol |
| HP:0003465 | Elevated 8(9)-cholestenol |
| HP:0003462 | Elevated 8-dehydrocholesterol |
| HP:0012544 | Elevated aldolase level |
| HP:0003155 | Elevated alkaline phosphatase |
| HP:0010639 | Elevated alkaline phosphatase of bone origin |
| HP:0010638 | Elevated alkaline phosphatase of hepatic origin |
| HP:0010680 | Elevated alkaline phosphatase of renal origin |
| HP:0006254 | Elevated alpha-fetoprotein |
| HP:0004639 | Elevated amniotic fluid alpha-fetoprotein |
| HP:0025202 | Elevated apolipoprotein A-IV level |
| HP:0012706 | Elevated brain choline level by MRS |
| HP:0025050 | Elevated brain creatine level by MRS |
| HP:0012707 | Elevated brain lactate level by MRS |
| HP:0025053 | Elevated brain N-acetyl aspartate level by MRS |
| HP:0011227 | Elevated C-reactive protein level |
| HP:0003528 | Elevated calcitonin |
| HP:0030337 | Elevated CD4-positive, CD25-positive regulatory T cell count |
| HP:0003334 | Elevated circulating catecholamine level |
| HP:0003165 | Elevated circulating parathyroid hormone level |
| HP:0008331 | Elevated creatine kinase after exercise |
| HP:0030862 | Elevated CSF amyloid level |
| HP:0040208 | Elevated CSF biopterin level |
| HP:0012655 | Elevated CSF dopamine level |
| HP:0040204 | Elevated CSF neopterin level |
| HP:0025083 | Elevated dermal desmosine content |
| HP:0005117 | Elevated diastolic blood pressure |
| HP:0003565 | Elevated erythrocyte sedimentation rate |
| HP:0011996 | Elevated factor V activity |
| HP:0008232 | Elevated follicle stimulating hormone |
| HP:0030948 | Elevated gamma-glutamyltransferase activity |
| HP:0040217 | Elevated hemoglobin A1c |
| HP:0012465 | Elevated hepatic iron concentration |
| HP:0002910 | Elevated hepatic transaminases |
| HP:0000930 | Elevated imprint of the transverse sinuses |
| HP:0010681 | Elevated intestinal alkaline phosphatase |
| HP:0003358 | Elevated intracellular cystine |
| HP:0030848 | Elevated jugular venous pressure |
| HP:0008318 | Elevated leukocyte alkaline phosphatase |
| HP:0010571 | Elevated levels of phytanic acid |
| HP:0003455 | Elevated long chain fatty acids |
| HP:0011969 | Elevated luteinizing hormone |
| HP:0005984 | Elevated maternal serum alpha-fetoprotein |
| HP:0004972 | Elevated mean arterial pressure |
| HP:0010682 | Elevated placental alkaline phosphatase |
| HP:0045045 | Elevated plasma acylcarnitine levels |
| HP:0008344 | Elevated plasma branched chain amino acids |
| HP:0011966 | Elevated plasma citrulline |
| HP:0011864 | Elevated plasma pyrophosphate |
| HP:0025020 | Elevated prostate-specific antigen level |
| HP:0004890 | Elevated pulmonary artery pressure |
| HP:0030270 | Elevated red cell adenosine deaminase activity |
| HP:0005168 | Elevated right atrial pressure |
| HP:0003148 | Elevated serum acid phosphatase |
| HP:0003236 | Elevated serum creatine phosphokinase |
| HP:0003259 | Elevated serum creatinine |
| HP:0045016 | Elevated serum long-chain fatty acids |
| HP:0008150 | Elevated serum transaminases during infections |
| HP:0012236 | Elevated sweat chloride |
| HP:0004421 | Elevated systolic blood pressure |
| HP:0010679 | Elevated tissue non-specific alkaline phosphatase |
| HP:0012463 | Elevated transferrin saturation |
| HP:0040155 | Elevated urinary 3-hydroxybutyric acid |
| HP:0045034 | Elevated urinary aminoisobutyric acid |
| HP:0040156 | Elevated urinary carboxylic acid |
| HP:0011976 | Elevated urinary catecholamines |
| HP:0003163 | Elevated urinary delta-aminolevulinic acid |
| HP:0011979 | Elevated urinary dopamine |
| HP:0003639 | Elevated urinary epinephrine |
| HP:0011977 | Elevated urinary homovanillic acid |
| HP:0003345 | Elevated urinary norepinephrine |
| HP:0011978 | Elevated urinary vanillylmandelic acid |
| HP:0003491 | Elevated urine pyrophosphate |
| HP:0004428 | Elfin facies |
| HP:0004445 | Elliptocytosis |
| HP:0006424 | Elongated radius |
| HP:0005463 | Elongated sella turcica |
| HP:0011933 | Elongated superior cerebellar peduncle |
| HP:0003457 | EMG abnormality |
| HP:0003482 | EMG: axonal abnormality |
| HP:0003444 | EMG: chronic denervation signs |
| HP:0100283 | EMG: continuous motor unit activity at rest |
| HP:0003403 | EMG: decremental response of compound muscle action potential to repetitive nerve stimulation |
| HP:0100285 | EMG: impaired neuromuscular transmission |
| HP:0030206 | EMG: incremental response of compound muscle action potential to repetitive nerve stimulation |
| HP:0100288 | EMG: myokymic discharges |
| HP:0003458 | EMG: myopathic abnormalities |
| HP:0100284 | EMG: myotonic discharges |
| HP:0003730 | EMG: myotonic runs |
| HP:0003445 | EMG: neuropathic changes |
| HP:0030007 | EMG: positive sharp waves |
| HP:0030000 | EMG: repetitive nerve stimulation abnormality |
| HP:0100287 | EMG: slow motor conduction |
| HP:0030213 | Emotional blunting |
| HP:0000712 | Emotional lability |
| HP:0002097 | Emphysema |
| HP:0030249 | Enanthema |
| HP:0002383 | Encephalitis |
| HP:0002084 | Encephalocele |
| HP:0040197 | Encephalomalacia |
| HP:0001298 | Encephalopathy |
| HP:0040183 | Encopresis |
| HP:0025363 | Endocapillary hypercellularity |
| HP:0001706 | Endocardial fibroelastosis |
| HP:0006685 | Endocardial fibrosis |
| HP:0100584 | Endocarditis |
| HP:0030127 | Endometriosis |
| HP:0003352 | Endopolyploidy on chromosome studies of bone marrow |
| HP:0003009 | Enhanced neurotoxicity of vincristine |
| HP:0030136 | Enhanced ristocetin cofactor assay activity |
| HP:0001340 | Enhancement of the C-reflex |
| HP:0012755 | Enlarged brainstem |
| HP:0012081 | Enlarged cerebellum |
| HP:0002280 | Enlarged cisterna magna |
| HP:0011388 | Enlarged cochlear aqueduct |
| HP:0010580 | Enlarged epiphyses |
| HP:0009491 | Enlarged epiphyses of the 2nd finger |
| HP:0100047 | Enlarged epiphyses of the 2nd toe |
| HP:0009413 | Enlarged epiphyses of the 3rd finger |
| HP:0100058 | Enlarged epiphyses of the 3rd toe |
| HP:0009396 | Enlarged epiphyses of the 4th finger |
| HP:0100069 | Enlarged epiphyses of the 4th toe |
| HP:0009385 | Enlarged epiphyses of the 5th finger |
| HP:0100080 | Enlarged epiphyses of the 5th toe |
| HP:0010249 | Enlarged epiphyses of the distal phalanges of the hand |
| HP:0010116 | Enlarged epiphyses of the hallux |
| HP:0010260 | Enlarged epiphyses of the middle phalanges of the hand |
| HP:0010231 | Enlarged epiphyses of the phalanges of the hand |
| HP:0010271 | Enlarged epiphyses of the proximal phalanges of the hand |
| HP:0010165 | Enlarged epiphyses of the toes |
| HP:0010018 | Enlarged epiphysis of the 1st metacarpal |
| HP:0010152 | Enlarged epiphysis of the 1st metatarsal |
| HP:0009505 | Enlarged epiphysis of the distal phalanx of the 2nd finger |
| HP:0100103 | Enlarged epiphysis of the distal phalanx of the 2nd toe |
| HP:0009338 | Enlarged epiphysis of the distal phalanx of the 3rd finger |
| HP:0100138 | Enlarged epiphysis of the distal phalanx of the 3rd toe |
| HP:0009253 | Enlarged epiphysis of the distal phalanx of the 4th finger |
| HP:0100172 | Enlarged epiphysis of the distal phalanx of the 4th toe |
| HP:0009147 | Enlarged epiphysis of the distal phalanx of the 5th finger |
| HP:0100205 | Enlarged epiphysis of the distal phalanx of the 5th toe |
| HP:0010141 | Enlarged epiphysis of the distal phalanx of the hallux |
| HP:0009678 | Enlarged epiphysis of the distal phalanx of the thumb |
| HP:0009516 | Enlarged epiphysis of the middle phalanx of the 2nd finger |
| HP:0100114 | Enlarged epiphysis of the middle phalanx of the 2nd toe |
| HP:0009324 | Enlarged epiphysis of the middle phalanx of the 3rd finger |
| HP:0100149 | Enlarged epiphysis of the middle phalanx of the 3rd toe |
| HP:0009217 | Enlarged epiphysis of the middle phalanx of the 4th finger |
| HP:0100183 | Enlarged epiphysis of the middle phalanx of the 4th toe |
| HP:0009206 | Enlarged epiphysis of the middle phalanx of the 5th finger |
| HP:0100216 | Enlarged epiphysis of the middle phalanx of the 5th toe |
| HP:0009527 | Enlarged epiphysis of the proximal phalanx of the 2nd finger |
| HP:0100125 | Enlarged epiphysis of the proximal phalanx of the 2nd toe |
| HP:0009349 | Enlarged epiphysis of the proximal phalanx of the 3rd finger |
| HP:0100160 | Enlarged epiphysis of the proximal phalanx of the 3rd toe |
| HP:0009264 | Enlarged epiphysis of the proximal phalanx of the 4th finger |
| HP:0100194 | Enlarged epiphysis of the proximal phalanx of the 4th toe |
| HP:0009158 | Enlarged epiphysis of the proximal phalanx of the 5th finger |
| HP:0100227 | Enlarged epiphysis of the proximal phalanx of the 5th toe |
| HP:0010130 | Enlarged epiphysis of the proximal phalanx of the hallux |
| HP:0009667 | Enlarged epiphysis of the proximal phalanx of the thumb |
| HP:0011427 | Enlarged fetal cisterna magna |
| HP:0008045 | Enlarged flash visual evoked potentials |
| HP:0100951 | Enlarged fossa interpeduncularis |
| HP:0100961 | Enlarged hippocampus |
| HP:0003910 | Enlarged humeral metaphyses |
| HP:0100953 | Enlarged interhemispheric fissure |
| HP:0006247 | Enlarged interphalangeal joints |
| HP:0003037 | Enlarged joints |
| HP:0000105 | Enlarged kidney |
| HP:0008683 | Enlarged labia minora |
| HP:0007734 | Enlarged lacrimal glands |
| HP:0025043 | Enlarged mesenteric lymph node |
| HP:0006134 | Enlarged metacarpal epiphyses |
| HP:0006163 | Enlarged metacarpophalangeal joints |
| HP:0003051 | Enlarged metaphyses |
| HP:0009931 | Enlarged naris |
| HP:0100879 | Enlarged ovaries |
| HP:0012645 | Enlarged peripheral nerve |
| HP:0012505 | Enlarged pituitary gland |
| HP:0008675 | Enlarged polycystic ovaries |
| HP:0006185 | Enlarged proximal interphalangeal joints |
| HP:0005878 | Enlarged sagittal diameter of the cervical canal |
| HP:0011383 | Enlarged semicircular canal |
| HP:0100952 | Enlarged sylvian cistern |
| HP:0012694 | Enlarged thalamic volume |
| HP:0100625 | Enlarged thorax |
| HP:0009689 | Enlarged thumb epiphysis |
| HP:0030812 | Enlarged tonsils |
| HP:0100878 | Enlarged uterus |
| HP:0004621 | Enlarged vertebral pedicles |
| HP:0011387 | Enlarged vestibular aqueduct |
| HP:0011801 | Enlargement of parotid gland |
| HP:0003029 | Enlargement of the ankles |
| HP:0000920 | Enlargement of the costochondral junction |
| HP:0006438 | Enlargement of the distal femoral epiphysis |
| HP:0003371 | Enlargement of the proximal femoral epiphysis |
| HP:0003020 | Enlargement of the wrists |
| HP:0030938 | Enteric intraneuronal nuclear inclusion bodies |
| HP:0025030 | Enteric neuronal degeneration |
| HP:0004387 | Enterocolitis |
| HP:0003729 | Enteroviral dermatomyositis syndrome |
| HP:0001412 | Enteroviral hepatitis |
| HP:0100686 | Enthesitis |
| HP:0012181 | Entrapment neuropathy |
| HP:0012216 | Entrapment neuropathy of suprascapular nerve |
| HP:0012186 | Entrapment neuropathy of the ulnar nerve at elbow |
| HP:0000621 | Entropion |
| HP:0000805 | Enuresis |
| HP:0010678 | Enuresis diurna |
| HP:0010677 | Enuresis nocturna |
| HP:0001880 | Eosinophilia |
| HP:0045029 | Eosinophilic fasciitis |
| HP:0011225 | Epiblepharon |
| HP:0040151 | Epiblepharon of lower lid |
| HP:0040150 | Epiblepharon of upper lid |
| HP:0001140 | Epibulbar dermoid |
| HP:0000286 | Epicanthus |
| HP:0000537 | Epicanthus inversus |
| HP:0025092 | Epidermal acanthosis |
| HP:0200040 | Epidermal cyst |
| HP:0007543 | Epidermal hyperkeratosis |
| HP:0010816 | Epidermal nevus |
| HP:0011368 | Epidermal thickening |
| HP:0030424 | Epididymal cyst |
| HP:0000031 | Epididymitis |
| HP:0100310 | Epidural hemorrhage |
| HP:0011159 | Epigastric auras |
| HP:0012847 | Epilepsia partialis continua |
| HP:0200134 | Epileptic encephalopathy |
| HP:0011097 | Epileptic spasms |
| HP:0011182 | Epileptiform EEG discharges |
| HP:0003053 | Epiphyseal deformities of tubular bones |
| HP:0002656 | Epiphyseal dysplasia |
| HP:0010655 | Epiphyseal stippling |
| HP:0010237 | Epiphyseal stippling of finger phalanges |
| HP:0010024 | Epiphyseal stippling of the first metacarpal |
| HP:0003902 | Epiphyseal stippling of the humerus |
| HP:0009195 | Epiphyseal stippling of the metacarpals |
| HP:0010171 | Epiphyseal stippling of toe phalanges |
| HP:0004990 | Epiphyseal streaking |
| HP:0100014 | Epiretinal membrane |
| HP:0100534 | Episcleritis |
| HP:0005141 | Episodes of ventricular tachycardia |
| HP:0002574 | Episodic abdominal pain |
| HP:0001951 | Episodic ammonia intoxication |
| HP:0002131 | Episodic ataxia |
| HP:0012431 | Episodic fatigue |
| HP:0001954 | Episodic fever |
| HP:0003752 | Episodic flaccid weakness |
| HP:0006852 | Episodic generalized hypotonia |
| HP:0012194 | Episodic hemiplegia |
| HP:0004802 | Episodic hemolytic anemia |
| HP:0001069 | Episodic hyperhidrosis |
| HP:0007200 | Episodic hypersomnia |
| HP:0000875 | Episodic hypertension |
| HP:0012726 | Episodic hypokalemia |
| HP:0004881 | Episodic hypoventilation |
| HP:0005974 | Episodic ketoacidosis |
| HP:0004911 | Episodic metabolic acidosis |
| HP:0000740 | Episodic paroxysmal anxiety |
| HP:0006949 | Episodic peripheral neuropathy |
| HP:0200072 | Episodic quadriplegia |
| HP:0004885 | Episodic respiratory distress |
| HP:0002876 | Episodic tachypnea |
| HP:0012271 | Episodic upper airway obstruction |
| HP:0002572 | Episodic vomiting |
| HP:0000039 | Epispadias |
| HP:0000421 | Epistaxis |
| HP:0008110 | Equinovarus deformity |
| HP:0008138 | Equinus calcaneus |
| HP:0100639 | Erectile abnormalities |
| HP:0004975 | Erlenmeyer flask deformity of the femurs |
| HP:0030673 | Erosive vitreoretinopathy |
| HP:0025357 | Erratic myoclonus |
| HP:0025248 | Eruptive vellus hair cyst |
| HP:0001013 | Eruptive xanthomas |
| HP:0001055 | Erysipelas |
| HP:0010783 | Erythema |
| HP:0012219 | Erythema nodosum |
| HP:0030350 | Erythematous papule |
| HP:0012617 | Erythrocyte cylindruria |
| HP:0001019 | Erythroderma |
| HP:0030756 | Erythrodontia |
| HP:0012132 | Erythroid hyperplasia |
| HP:0012133 | Erythroid hypoplasia |
| HP:0002032 | Esophageal atresia |
| HP:0100628 | Esophageal diverticulum |
| HP:0100681 | Esophageal duplication |
| HP:0012859 | Esophageal leukoplakia |
| HP:0005240 | Esophageal obstruction |
| HP:0025271 | Esophageal spasms |
| HP:0010450 | Esophageal stenosis |
| HP:0002043 | Esophageal stricture |
| HP:0004791 | Esophageal ulceration |
| HP:0002040 | Esophageal varix |
| HP:0100594 | Esophageal web |
| HP:0100633 | Esophagitis |
| HP:0025312 | Esophoria |
| HP:0000565 | Esotropia |
| HP:0030779 | Ethmocephaly |
| HP:0004478 | Ethmoidal encephalocele |
| HP:0003219 | Ethylmalonic aciduria |
| HP:0003782 | Eunuchoid habitus |
| HP:0012905 | Euryblepharon |
| HP:0009798 | Euthyroid goiter |
| HP:0008247 | Euthyroid hyperthyroxinemia |
| HP:0000866 | Euthyroid multinodular goiter |
| HP:0007655 | Eversion of lateral third of lower eyelids |
| HP:0011248 | Everted antitragus |
| HP:0000232 | Everted lower lip vermilion |
| HP:0010803 | Everted upper lip vermilion |
| HP:0005397 | Exaggerated cellular immune processes |
| HP:0002263 | Exaggerated cupid's bow |
| HP:0002711 | Exaggerated median tongue furrow |
| HP:0030913 | Exaggerated rugosity of the labia majora |
| HP:0002267 | Exaggerated startle response |
| HP:0030139 | Excessive bleeding after a venipuncture |
| HP:0030138 | Excessive bleeding from superficial cuts |
| HP:0030789 | Excessive cerumen |
| HP:0002189 | Excessive daytime sleepiness |
| HP:0001262 | Excessive daytime somnolence |
| HP:0012427 | Excessive femoral anteversion |
| HP:0003142 | Excessive purine production |
| HP:0003781 | Excessive salivation |
| HP:0007407 | Excessive skin wrinkling on dorsum of hands and fingers |
| HP:0007392 | Excessive wrinkled skin |
| HP:0007605 | Excessive wrinkling of palmar skin |
| HP:0030769 | Exencephaly |
| HP:0003546 | Exercise intolerance |
| HP:0012652 | Exercise-induced asthma |
| HP:0005535 | Exercise-induced hemolysis |
| HP:0004901 | Exercise-induced lactic acidemia |
| HP:0008991 | Exercise-induced leg cramps |
| HP:0003710 | Exercise-induced muscle cramps |
| HP:0009020 | Exercise-induced muscle fatigue |
| HP:0008967 | Exercise-induced muscle stiffness |
| HP:0003738 | Exercise-induced myalgia |
| HP:0008305 | Exercise-induced myoglobinuria |
| HP:0009045 | Exercise-induced rhabdomyolysis |
| HP:0025073 | Exercise-induced U wave inversion |
| HP:0002875 | Exertional dyspnea |
| HP:0001738 | Exocrine pancreatic insufficiency |
| HP:0025313 | Exophoria |
| HP:0000577 | Exotropia |
| HP:0006232 | Expanded metacarpals with widened medullary cavities |
| HP:0008102 | Expanded metatarsals with widened medullary cavities |
| HP:0006112 | Expanded phalanges with widened medullary cavities |
| HP:0011259 | Expanded terminal portion of crus of helix |
| HP:0012002 | Experiential auras |
| HP:0002474 | Expressive language delay |
| HP:0100548 | Exstrophy |
| HP:0010731 | Extension of eyebrows towards upper eyelid |
| HP:0005325 | Extension of hair growth on temples to lateral eyebrow |
| HP:0012161 | External carotid artery dissection |
| HP:0008572 | External ear malformation |
| HP:0003241 | External genital hypoplasia |
| HP:0000544 | External ophthalmoplegia |
| HP:0008796 | Externally rotated hips |
| HP:0003783 | Externally rotated/abducted legs |
| HP:0400002 | Extra concha fold |
| HP:0012367 | Extra fontanelles |
| HP:0012510 | Extra-axial cerebrospinal fluid accumulation |
| HP:0025364 | Extracapillary hypercellularity |
| HP:0004945 | Extracranial internal carotid artery dissection |
| HP:0005242 | Extrahepatic biliary duct atresia |
| HP:0012334 | Extrahepatic cholestasis |
| HP:0004941 | Extrahepatic portal hypertension |
| HP:0010962 | Extralobar sequestration |
| HP:0001978 | Extramedullary hematopoiesis |
| HP:0006544 | Extrapulmonary sequestrum |
| HP:0007308 | Extrapyramidal dyskinesia |
| HP:0007076 | Extrapyramidal muscular rigidity |
| HP:0030235 | Extremely elevated creatine phosphokinase |
| HP:0011921 | Exudative pleural effusion |
| HP:0012231 | Exudative retinal detachment |
| HP:0007898 | Exudative retinopathy |
| HP:0030490 | Exudative vitreoretinopathy |
| HP:0030857 | Eye movement-induced pain |
| HP:0002454 | Eye of the tiger anomaly of globus pallidus |
| HP:0001483 | Eye poking |
| HP:0000658 | Eyelid apraxia |
| HP:0030826 | Eyelid fasciculation |
| HP:0011168 | Eyelid myoclonias |
| HP:0025097 | Eyelid myoclonus |
| HP:0030871 | Facet joint arthrosis |
| HP:0000324 | Facial asymmetry |
| HP:0002006 | Facial cleft |
| HP:0001349 | Facial diplegia |
| HP:0000282 | Facial edema |
| HP:0001041 | Facial erythema |
| HP:0001033 | Facial flushing after alcohol intake |
| HP:0000273 | Facial grimacing |
| HP:0009937 | Facial hirsutism |
| HP:0005465 | Facial hyperostosis |
| HP:0002219 | Facial hypertrichosis |
| HP:0000297 | Facial hypotonia |
| HP:0012892 | Facial muscle hypertrophy |
| HP:0000317 | Facial myokymia |
| HP:0010628 | Facial palsy |
| HP:0007285 | Facial palsy secondary to cranial hyperostosis |
| HP:0007209 | Facial paralysis |
| HP:0011334 | Facial shape deformation |
| HP:0007380 | Facial telangiectasia |
| HP:0005598 | Facial telangiectasia in butterfly midface distribution |
| HP:0011468 | Facial tics |
| HP:0009762 | Facial wrinkling |
| HP:0007089 | Facial-lingual fasciculations |
| HP:0008354 | Factor X activation deficiency |
| HP:0040233 | Factor XIII subunit A deficiency |
| HP:0040234 | Factor XIII subunit B deficiency |
| HP:0006352 | Failure of eruption of permanent teeth |
| HP:0001508 | Failure to thrive |
| HP:0001531 | Failure to thrive in infancy |
| HP:0008866 | Failure to thrive secondary to recurrent infections |
| HP:0002286 | Fair hair |
| HP:0001493 | Falciform retinal fold |
| HP:0012883 | Fallopian tube cyst |
| HP:0012885 | Fallopian tube duplication |
| HP:0012884 | Fallopian tube torsion |
| HP:0002527 | Falls |
| HP:0002380 | Fasciculations |
| HP:0100537 | Fasciitis |
| HP:0030806 | Fast-growing nails |
| HP:0008283 | Fasting hyperinsulinemia |
| HP:0003162 | Fasting hypoglycemia |
| HP:0002630 | Fat malabsorption |
| HP:0006583 | Fatal liver failure in infancy |
| HP:0003473 | Fatigable weakness |
| HP:0030192 | Fatigable weakness of bulbar muscles |
| HP:0030193 | Fatigable weakness of chewing muscles |
| HP:0030198 | Fatigable weakness of distal limb muscles |
| HP:0030199 | Fatigable weakness of neck muscles |
| HP:0030196 | Fatigable weakness of respiratory muscles |
| HP:0030197 | Fatigable weakness of skeletal muscles |
| HP:0030194 | Fatigable weakness of speech muscles |
| HP:0030195 | Fatigable weakness of swallowing muscles |
| HP:0030200 | Fatiguable weakness of proximal limb muscles |
| HP:0012378 | Fatigue |
| HP:0012548 | Fatty replacement of skeletal muscle |
| HP:0004814 | Fava bean-induced hemolytic anemia |
| HP:0030202 | Favorable response of weakness to acetylcholine esterase inhibitors |
| HP:0002373 | Febrile seizures |
| HP:0025089 | Feculent vomiting |
| HP:0011968 | Feeding difficulties |
| HP:0008872 | Feeding difficulties in infancy |
| HP:0030015 | Female anorgasmia |
| HP:0008730 | Female external genitalia in individual with 46,XY karyotype |
| HP:0000134 | Female hypogonadism |
| HP:0008222 | Female infertility |
| HP:0010458 | Female pseudohermaphroditism |
| HP:0030014 | Female sexual dysfunction |
| HP:0012744 | Femoral aplasia |
| HP:0002980 | Femoral bowing |
| HP:0005005 | Femoral bowing present at birth, straightening with time |
| HP:0100541 | Femoral hernia |
| HP:0030883 | Femoroacetabular Impingement |
| HP:0001989 | Fetal akinesia sequence |
| HP:0001791 | Fetal ascites |
| HP:0011426 | Fetal choroid plexus cysts |
| HP:0010878 | Fetal cystic hygroma |
| HP:0025116 | Fetal distress |
| HP:0011431 | Fetal fifth finger clinodactyly |
| HP:0010956 | Fetal megacystis |
| HP:0001563 | Fetal polyuria |
| HP:0010945 | Fetal pyelectasis |
| HP:0011425 | Fetal ultrasound soft marker |
| HP:0001945 | Fever |
| HP:0007429 | Few cafe-au-lait spots |
| HP:0003610 | Fibroblast metachromasia |
| HP:0006552 | Fibrocystic lung disease |
| HP:0030937 | Fibrotic muscularis propria |
| HP:0100572 | Fibrous cardiac diverticulum |
| HP:0010734 | Fibrous dysplasia of the bones |
| HP:0009754 | Fibrous syngnathia |
| HP:0002990 | Fibular aplasia |
| HP:0010502 | Fibular bowing |
| HP:0100344 | Fibular deviation of the 2nd toe |
| HP:0100342 | Fibular deviation of the 3rd toe |
| HP:0100340 | Fibular deviation of the 4th toe |
| HP:0100346 | Fibular deviation of the 5th toe |
| HP:0100500 | Fibular deviation of toes |
| HP:0010503 | Fibular duplication |
| HP:0003038 | Fibular hypoplasia |
| HP:0030293 | Fibular metaphyseal irregularity |
| HP:0003099 | Fibular overgrowth |
| HP:0005769 | Fifth finger distal phalanx clinodactyly |
| HP:0005900 | Fifth metacarpal with ulnar notch |
| HP:0002213 | Fine hair |
| HP:0007617 | Fine, reticulate skin pigmentation |
| HP:0010525 | Finger agnosia |
| HP:0040019 | Finger clinodactyly |
| HP:0030367 | Finger hyperphalangy |
| HP:0006094 | Finger joint hypermobility |
| HP:0030837 | Finger pain |
| HP:0025131 | Finger swelling |
| HP:0009700 | Finger symphalangism |
| HP:0006101 | Finger syndactyly |
| HP:0100798 | Fingernail dysplasia |
| HP:0006107 | Fingerpad telangiectases |
| HP:0003208 | Fingerprint intracellular accumulation of autofluorescent lipopigment storage material |
| HP:0003725 | Firm muscles |
| HP:0011705 | First degree atrioventricular block |
| HP:0003426 | First dorsal interossei muscle atrophy |
| HP:0003392 | First dorsal interossei muscle weakness |
| HP:0006471 | Fixed elbow flexion |
| HP:0005329 | Fixed facial expression |
| HP:0025241 | Flame-shaped retinal hemorrhage |
| HP:0030157 | Flank pain |
| HP:0030309 | Flared distal fibular metaphysis |
| HP:0030308 | Flared distal tibial metaphysis |
| HP:0003950 | Flared elbow metaphyses |
| HP:0002834 | Flared femoral metaphysis |
| HP:0003911 | Flared humeral metaphysis |
| HP:0002869 | Flared iliac wings |
| HP:0030307 | Flared lower limb metaphysis |
| HP:0003015 | Flared metaphysis |
| HP:0000454 | Flared nostrils |
| HP:0004018 | Flared radial metaphysis |
| HP:0003849 | Flared upper limb metaphysis |
| HP:0006603 | Flared, irregular rib ends |
| HP:0006589 | Flaring of lower rib cage |
| HP:0000904 | Flaring of rib cage |
| HP:0003180 | Flat acetabular roof |
| HP:0003370 | Flat capital femoral epiphysis |
| HP:0007720 | Flat cornea |
| HP:0006398 | Flat distal femoral epiphysis |
| HP:0012368 | Flat face |
| HP:0004425 | Flat forehead |
| HP:0000911 | Flat glenoid fossa |
| HP:0010649 | Flat nasal alae |
| HP:0005469 | Flat occiput |
| HP:0040011 | Flat posterior fossa |
| HP:0100857 | Flat sella turcica |
| HP:0003071 | Flattened epiphysis |
| HP:0030289 | Flattened femoral epiphysis |
| HP:0008812 | Flattened femoral head |
| HP:0003895 | Flattened humeral epiphyses |
| HP:0003888 | Flattened humeral heads |
| HP:0005715 | Flattened knee epiphyses |
| HP:0011909 | Flattened metacarpal heads |
| HP:0005194 | Flattened metatarsal heads |
| HP:0005752 | Flattened moderately deformed vertebrae |
| HP:0005004 | Flattened proximal radial epiphyses |
| HP:0004002 | Flattened radial epiphyses |
| HP:0003996 | Flattened radial head |
| HP:0006172 | Flattened, squared-off epiphyses of tubular bones |
| HP:0008144 | Flattening of the talar dome |
| HP:0001371 | Flexion contracture |
| HP:0010333 | Flexion contracture of 3rd toe |
| HP:0030044 | Flexion contracture of digit |
| HP:0012785 | Flexion contracture of finger |
| HP:0009537 | Flexion contracture of the 2nd finger |
| HP:0010327 | Flexion contracture of the 2nd toe |
| HP:0010339 | Flexion contracture of the 4th toe |
| HP:0010345 | Flexion contracture of the 5th toe |
| HP:0010212 | Flexion contracture of the hallux |
| HP:0009600 | Flexion contracture of thumb |
| HP:0005830 | Flexion contracture of toe |
| HP:0008116 | Flexion limitation of toes |
| HP:0007453 | Flexural lichenification |
| HP:0006564 | Fluctuating hepatomegaly |
| HP:0006268 | Fluctuating splenomegaly |
| HP:0007159 | Fluctuations in consciousness |
| HP:0003651 | Foam cells |
| HP:0003640 | Foam cells in visceral organs and CNS |
| HP:0003609 | Foam cells with lamellar inclusion bodies |
| HP:0400003 | Focal absence of the external ear |
| HP:0011154 | Focal autonomic seizures |
| HP:0011155 | Focal autonomic seizures with altered responsiveness |
| HP:0011156 | Focal autonomic seizures without altered responsiveness |
| HP:0002266 | Focal clonic seizures |
| HP:0007510 | Focal dermal aplasia/hypoplasia |
| HP:0004373 | Focal dystonia |
| HP:0011187 | Focal EEG discharges with propagation to ipsilateral hemisphere |
| HP:0011188 | Focal EEG discharges with secondary generalization |
| HP:0011186 | Focal epileptiform discharges with limited propagation to contralateral hemisphere |
| HP:0007497 | Focal friction-related palmoplantar hyperkeratosis |
| HP:0007458 | Focal hyperextensible skin |
| HP:0007187 | Focal lissencephaly |
| HP:0011153 | Focal motor seizures |
| HP:0011166 | Focal myoclonic seizures |
| HP:0003338 | Focal necrosis of right ventricular muscle cells |
| HP:0000097 | Focal segmental glomerulosclerosis |
| HP:0007359 | Focal seizures |
| HP:0002384 | Focal seizures with impairment of consciousness or awareness |
| HP:0002349 | Focal seizures without impairment of consciousness or awareness |
| HP:0040168 | Focal seizures, afebril |
| HP:0007183 | Focal T2 hyperintense basal ganglia lesion |
| HP:0012748 | Focal T2 hyperintense brainstem lesion |
| HP:0012692 | Focal T2 hyperintense thalamic lesion |
| HP:0012752 | Focal T2 hypointense basal ganglia lesion |
| HP:0012749 | Focal T2 hypointense brainstem lesion |
| HP:0012691 | Focal T2 hypointense thalamic lesion |
| HP:0011167 | Focal tonic seizures |
| HP:0007042 | Focal white matter lesions |
| HP:0100507 | Folate deficiency |
| HP:0003564 | Folate-dependent fragile site at Xq28 |
| HP:0004851 | Folate-responsive megaloblastic anemia |
| HP:0004826 | Folate-unresponsive megaloblastic anemia |
| HP:0007502 | Follicular hyperkeratosis |
| HP:0002729 | Follicular hyperplasia |
| HP:0025084 | Folliculitis |
| HP:0012537 | Food intolerance |
| HP:0001842 | Foot acroosteolysis |
| HP:0010507 | Foot asymmetry |
| HP:0009027 | Foot dorsiflexor weakness |
| HP:0200054 | Foot monodactyly |
| HP:0001849 | Foot oligodactyly |
| HP:0001886 | Foot osteomyelitis |
| HP:0025238 | Foot pain |
| HP:0001829 | Foot polydactyly |
| HP:0011411 | Forceps delivery |
| HP:0006368 | Forearm reduction defects |
| HP:0009821 | Forearm undergrowth |
| HP:0005336 | Forehead hyperpigmentation |
| HP:0011263 | Forward facing earlobe |
| HP:0025009 | Forward slanting upper incisors |
| HP:0007011 | Fourth cranial nerve palsy |
| HP:0025010 | Foveal atrophy |
| HP:0025146 | Foveal degeneration |
| HP:0008001 | Foveal hyperpigmentation |
| HP:0012643 | Foveal hypopigmentation |
| HP:0030627 | Foveal hyporeflective spaces on macular OCT |
| HP:0030621 | Foveal inner retinal layer loss on macular OCT |
| HP:0030626 | Foveal intraretinal hyporeflective spaces on macular OCT |
| HP:0030614 | Foveal photoreceptor layer loss on macular OCT |
| HP:0030615 | Foveal photoreceptor outer segment loss on macular OCT |
| HP:0030616 | Foveal retinal pigment epithelial loss on macular OCT |
| HP:0030628 | Foveal subretinal hyporeflective spaces on macular OCT |
| HP:0012152 | Foveoschisis |
| HP:0003961 | Fractured forearm bones |
| HP:0004277 | Fractured hand bones |
| HP:0003978 | Fractured radius |
| HP:0003987 | Fractured ulna |
| HP:0003084 | Fractures of the long bones |
| HP:0001808 | Fragile nails |
| HP:0001030 | Fragile skin |
| HP:0025124 | Fragile teeth |
| HP:0009492 | Fragmentation of the epiphyses of the 2nd finger |
| HP:0100048 | Fragmentation of the epiphyses of the 2nd toe |
| HP:0009414 | Fragmentation of the epiphyses of the 3rd finger |
| HP:0100059 | Fragmentation of the epiphyses of the 3rd toe |
| HP:0009397 | Fragmentation of the epiphyses of the 4th finger |
| HP:0100070 | Fragmentation of the epiphyses of the 4th toe |
| HP:0009386 | Fragmentation of the epiphyses of the 5th finger |
| HP:0100081 | Fragmentation of the epiphyses of the 5th toe |
| HP:0010250 | Fragmentation of the epiphyses of the distal phalanges of the hand |
| HP:0010117 | Fragmentation of the epiphyses of the hallux |
| HP:0010261 | Fragmentation of the epiphyses of the middle phalanges of the hand |
| HP:0010232 | Fragmentation of the epiphyses of the phalanges of the hand |
| HP:0010272 | Fragmentation of the epiphyses of the proximal phalanges of the hand |
| HP:0010166 | Fragmentation of the epiphyses of the toes |
| HP:0010019 | Fragmentation of the epiphysis of the 1st metacarpal |
| HP:0010153 | Fragmentation of the epiphysis of the 1st metatarsal |
| HP:0009506 | Fragmentation of the epiphysis of the distal phalanx of the 2nd finger |
| HP:0100104 | Fragmentation of the epiphysis of the distal phalanx of the 2nd toe |
| HP:0009339 | Fragmentation of the epiphysis of the distal phalanx of the 3rd finger |
| HP:0100139 | Fragmentation of the epiphysis of the distal phalanx of the 3rd toe |
| HP:0009254 | Fragmentation of the epiphysis of the distal phalanx of the 4th finger |
| HP:0100173 | Fragmentation of the epiphysis of the distal phalanx of the 4th toe |
| HP:0009166 | Fragmentation of the epiphysis of the distal phalanx of the 5th finger |
| HP:0100206 | Fragmentation of the epiphysis of the distal phalanx of the 5th toe |
| HP:0010142 | Fragmentation of the epiphysis of the distal phalanx of the hallux |
| HP:0009679 | Fragmentation of the epiphysis of the distal phalanx of the thumb |
| HP:0009517 | Fragmentation of the epiphysis of the middle phalanx of the 2nd finger |
| HP:0100115 | Fragmentation of the epiphysis of the middle phalanx of the 2nd toe |
| HP:0009325 | Fragmentation of the epiphysis of the middle phalanx of the 3rd finger |
| HP:0100150 | Fragmentation of the epiphysis of the middle phalanx of the 3rd toe |
| HP:0009218 | Fragmentation of the epiphysis of the middle phalanx of the 4th finger |
| HP:0100184 | Fragmentation of the epiphysis of the middle phalanx of the 4th toe |
| HP:0009207 | Fragmentation of the epiphysis of the middle phalanx of the 5th finger |
| HP:0100217 | Fragmentation of the epiphysis of the middle phalanx of the 5th toe |
| HP:0009528 | Fragmentation of the epiphysis of the proximal phalanx of the 2nd finger |
| HP:0100126 | Fragmentation of the epiphysis of the proximal phalanx of the 2nd toe |
| HP:0009350 | Fragmentation of the epiphysis of the proximal phalanx of the 3rd finger |
| HP:0100161 | Fragmentation of the epiphysis of the proximal phalanx of the 3rd toe |
| HP:0009265 | Fragmentation of the epiphysis of the proximal phalanx of the 4th finger |
| HP:0100195 | Fragmentation of the epiphysis of the proximal phalanx of the 4th toe |
| HP:0009202 | Fragmentation of the epiphysis of the proximal phalanx of the 5th finger |
| HP:0100228 | Fragmentation of the epiphysis of the proximal phalanx of the 5th toe |
| HP:0010131 | Fragmentation of the epiphysis of the proximal phalanx of the hallux |
| HP:0009668 | Fragmentation of the epiphysis of the proximal phalanx of the thumb |
| HP:0009189 | Fragmentation of the metacarpal epiphyses |
| HP:0009690 | Fragmentation of thumb epiphysis |
| HP:0025167 | Fragmented elastic fibers in the dermis |
| HP:0100168 | Fragmented epiphyses |
| HP:0003841 | Fragmented epiphyses of the upper limbs |
| HP:0005063 | Fragmented, irregular epiphyses |
| HP:0010859 | Frank breech presentation |
| HP:0003912 | Frayed humeral metaphyses |
| HP:0030257 | Freckled genitalia |
| HP:0007603 | Freckles in sun-exposed areas |
| HP:0001480 | Freckling |
| HP:0002359 | Frequent falls |
| HP:0005215 | Frequent Giardia lamblia infestation |
| HP:0025161 | Frequent temper tantrums |
| HP:0002292 | Frontal balding |
| HP:0002007 | Frontal bossing |
| HP:0006913 | Frontal cortical atrophy |
| HP:0007330 | Frontal encephalocele |
| HP:0011335 | Frontal hirsutism |
| HP:0000727 | Frontal lobe dementia |
| HP:0200094 | Frontal open bite |
| HP:0000743 | Frontal release signs |
| HP:0002236 | Frontal upsweep of hair |
| HP:0012482 | Frontal venous angioma |
| HP:0004661 | Frontalis muscle weakness |
| HP:0030729 | Frontoethmoidal meningocele |
| HP:0002439 | Frontolimbic dementia |
| HP:0430004 | Frontomalar faciosynostosis |
| HP:0006930 | Frontoparietal cortical dysplasia |
| HP:0007095 | Frontoparietal polymicrogyria |
| HP:0006892 | Frontotemporal cerebral atrophy |
| HP:0002145 | Frontotemporal dementia |
| HP:0005973 | Fructose intolerance |
| HP:0000293 | Full cheeks |
| HP:0012812 | Fullness of paranasal tissue |
| HP:0004448 | Fulminant hepatic failure |
| HP:0004787 | Fulminant hepatitis |
| HP:0000025 | Functional abnormality of male internal genitalia |
| HP:0000009 | Functional abnormality of the bladder |
| HP:0012719 | Functional abnormality of the gastrointestinal tract |
| HP:0011389 | Functional abnormality of the inner ear |
| HP:0011452 | Functional abnormality of the middle ear |
| HP:0005249 | Functional intestinal obstruction |
| HP:0004302 | Functional motor problems |
| HP:0002795 | Functional respiratory abnormality |
| HP:0030642 | Fundus albipunctatus |
| HP:0001099 | Fundus atrophy |
| HP:0030660 | Furcate cord insertion |
| HP:0000221 | Furrowed tongue |
| HP:0002949 | Fused cervical vertebrae |
| HP:0005867 | Fused fourth and fifth metacarpals |
| HP:0000063 | Fused labia minora |
| HP:0100788 | Fused lips |
| HP:0030040 | Fused lumbar vertebrae |
| HP:0011312 | Fused nails |
| HP:0006643 | Fused sternal ossification centers |
| HP:0011090 | Fused teeth |
| HP:0030039 | Fused thoracic vertebrae |
| HP:0012728 | Fusiform descending thoracic aortic aneurysm |
| HP:0012292 | Fusion of gums |
| HP:0004575 | Fusion of midcervical facet joints |
| HP:0005473 | Fusion of middle ear ossicles |
| HP:0006187 | Fusion of midphalangeal joints |
| HP:0006899 | Fusion of the cerebellar hemispheres |
| HP:0010664 | Fusion of the left and right thalami |
| HP:0010521 | Gait apraxia |
| HP:0002066 | Gait ataxia |
| HP:0001288 | Gait disturbance |
| HP:0002141 | Gait imbalance |
| HP:0006962 | Gait instability, worse in the dark |
| HP:0100829 | Galactorrhea |
| HP:0004919 | Galactose intolerance |
| HP:0012023 | Galactosuria |
| HP:0005609 | Gallbladder dysfunction |
| HP:0012442 | Gallbladder dyskinesia |
| HP:0030154 | Gallbladder perforation |
| HP:0025151 | Ganglioneuromatosis |
| HP:0100758 | Gangrene |
| HP:0100808 | Gastric diverticulum |
| HP:0011139 | Gastric duplication |
| HP:0005207 | Gastric hypertrophy |
| HP:0002592 | Gastric ulcer |
| HP:0030169 | Gastric varix |
| HP:0005263 | Gastritis |
| HP:0002020 | Gastroesophageal reflux |
| HP:0000471 | Gastrointestinal angiodysplasia |
| HP:0002629 | Gastrointestinal arteriovenous malformation |
| HP:0002589 | Gastrointestinal atresia |
| HP:0011140 | Gastrointestinal duplication |
| HP:0002579 | Gastrointestinal dysmotility |
| HP:0002239 | Gastrointestinal hemorrhage |
| HP:0005244 | Gastrointestinal infarctions |
| HP:0004386 | Gastrointestinal inflammation |
| HP:0004796 | Gastrointestinal obstruction |
| HP:0002604 | Gastrointestinal telangiectasia |
| HP:0030884 | Gastrojejunal tube feeding in infancy |
| HP:0002578 | Gastroparesis |
| HP:0001543 | Gastroschisis |
| HP:0011471 | Gastrostomy tube feeding in infancy |
| HP:0007979 | Gaze-evoked horizontal nystagmus |
| HP:0000640 | Gaze-evoked nystagmus |
| HP:0010821 | Gelastic seizures |
| HP:0011091 | Gemination |
| HP:0011354 | Generalized abnormality of skin |
| HP:0002909 | Generalized aminoaciduria |
| HP:0003216 | Generalized amyloid deposition |
| HP:0003700 | Generalized amyotrophy |
| HP:0007459 | Generalized anhidrosis |
| HP:0004940 | Generalized arterial calcification |
| HP:0004955 | Generalized arterial tortuosity |
| HP:0006462 | Generalized bone demineralization |
| HP:0007574 | Generalized bronze hyperpigmentation |
| HP:0007058 | Generalized cerebral atrophy/hypoplasia |
| HP:0011169 | Generalized clonic seizures |
| HP:0004916 | Generalized distal tubular acidosis |
| HP:0007325 | Generalized dystonia |
| HP:0007430 | Generalized edema |
| HP:0002230 | Generalized hirsutism |
| HP:0005595 | Generalized hyperkeratosis |
| HP:0007440 | Generalized hyperpigmentation |
| HP:0007034 | Generalized hyperreflexia |
| HP:0004554 | Generalized hypertrichosis |
| HP:0007513 | Generalized hypopigmentation |
| HP:0011358 | Generalized hypopigmentation of hair |
| HP:0006282 | Generalized hypoplasia of dental enamel |
| HP:0001290 | Generalized hypotonia |
| HP:0003397 | Generalized hypotonia due to defect at the neuromuscular junction |
| HP:0004528 | Generalized hypotrichosis |
| HP:0007503 | Generalized ichthyosis |
| HP:0002761 | Generalized joint laxity |
| HP:0007439 | Generalized keratosis follicularis |
| HP:0009055 | Generalized limb muscle atrophy |
| HP:0009064 | Generalized lipodystrophy |
| HP:0008940 | Generalized lymphadenopathy |
| HP:0006311 | Generalized microdontia |
| HP:0005197 | Generalized morning stiffness |
| HP:0003720 | Generalized muscle hypertrophy |
| HP:0003324 | Generalized muscle weakness |
| HP:0003716 | Generalized muscular appearance from birth |
| HP:0002123 | Generalized myoclonic seizures |
| HP:0008935 | Generalized neonatal hypotonia |
| HP:0011494 | Generalized opacification of the cornea |
| HP:0040160 | Generalized osteoporosis |
| HP:0005789 | Generalized osteosclerosis |
| HP:0007482 | Generalized papillary lesions |
| HP:0011058 | Generalized periodontitis |
| HP:0007599 | Generalized reticulate brown pigmentation |
| HP:0007569 | Generalized seborrheic dermatitis |
| HP:0002197 | Generalized seizures |
| HP:0010818 | Generalized tonic seizures |
| HP:0002069 | Generalized tonic-clonic seizures |
| HP:0007193 | Generalized tonic-clonic seizures on awakening |
| HP:0007334 | Generalized tonic-clonic seizures with focal onset |
| HP:0025190 | Generalized tonic-clonic seizures without focal onset |
| HP:0009028 | Generalized weakness of limb muscles |
| HP:0100823 | Genital hernia |
| HP:0001827 | Genital tract atresia |
| HP:0003249 | Genital ulcers |
| HP:0002816 | Genu recurvatum |
| HP:0002857 | Genu valgum |
| HP:0002970 | Genu varum |
| HP:0025252 | Geographic tongue |
| HP:0025062 | Geophagia |
| HP:0011621 | Gerbode ventricular septal defect |
| HP:0100955 | Giant cell granuloma of mandible |
| HP:0200084 | Giant cell hepatitis |
| HP:0025350 | Giant conjunctival papillae |
| HP:0005246 | Giant hypertrophic gastritis |
| HP:0005592 | Giant melanosomes in melanocytes |
| HP:0001902 | Giant platelets |
| HP:0001312 | Giant somatosensory evoked potentials |
| HP:0000225 | Gingival bleeding |
| HP:0025141 | Gingival calcification |
| HP:0030690 | Gingival cleft |
| HP:0000222 | Gingival hyperkeratosis |
| HP:0000212 | Gingival overgrowth |
| HP:0030816 | Gingival recession |
| HP:0000230 | Gingivitis |
| HP:0030904 | Glabellar reflex |
| HP:0000807 | Glandular hypospadias |
| HP:0000501 | Glaucoma |
| HP:0007854 | Glaucomatous visual field defect |
| HP:0006633 | Glenoid fossa hypoplasia |
| HP:0030743 | Glial remnants anterior to the optic disc |
| HP:0030742 | Glial remnants posterior to lens |
| HP:0002171 | Gliosis |
| HP:0002283 | Global brain atrophy |
| HP:0001263 | Global developmental delay |
| HP:0004737 | Global glomerulosclerosis |
| HP:0012573 | Global proximal tubulopathy |
| HP:0005185 | Global systolic dysfunction |
| HP:0000497 | Globe retraction and deviation on abduction |
| HP:0012205 | Globozoospermia |
| HP:0012576 | Glomerular C3 deposition |
| HP:0030949 | Glomerular deposits |
| HP:0004746 | Glomerular subendothelial electron-dense deposits |
| HP:0030162 | Glomerulomegaly |
| HP:0000099 | Glomerulonephritis |
| HP:0100820 | Glomerulopathy |
| HP:0000096 | Glomerulosclerosis |
| HP:0000206 | Glossitis |
| HP:0000162 | Glossoptosis |
| HP:0011740 | Glucocortocoid-insensitive primary hyperaldosteronism |
| HP:0000833 | Glucose intolerance |
| HP:0040262 | Glue ear |
| HP:0003530 | Glutaric acidemia |
| HP:0003150 | Glutaric aciduria |
| HP:0003343 | Glutathione synthetase deficiency |
| HP:0012538 | Gluten intolerance |
| HP:0030231 | Glycogen accumulation in muscle fiber lysosomes |
| HP:0012067 | Glycopeptiduria |
| HP:0003076 | Glycosuria |
| HP:0003258 | Glyoxalase deficiency |
| HP:0003495 | GM2-ganglioside accumulation |
| HP:0000853 | Goiter |
| HP:0008703 | Gonadal calcification |
| HP:0000133 | Gonadal dysgenesis |
| HP:0008723 | Gonadal dysgenesis with female appearance, male |
| HP:0008668 | Gonadal dysgenesis, male |
| HP:0008639 | Gonadal hypoplasia |
| HP:0003248 | Gonadal tissue inappropriate for external genitalia or chromosomal sex |
| HP:0008213 | Gonadotropin deficiency |
| HP:0030181 | Gordon reflex |
| HP:0001997 | Gout |
| HP:0003391 | Gowers sign |
| HP:0030748 | Grade I preterm intraventricular hemorrhage |
| HP:0030749 | Grade II preterm intraventricular hemorrhage |
| HP:0030750 | Grade III preterm intraventricular hemorrhage |
| HP:0030751 | Grade IV preterm intraventricular hemorrhage |
| HP:0006977 | Grammar-specific speech disorder |
| HP:0007802 | Granular corneal dystrophy |
| HP:0007793 | Granular macular appearance |
| HP:0003657 | Granular osmiophilic deposits (GROD) in cells |
| HP:0012138 | Granulocytic hyperplasia |
| HP:0012139 | Granulocytic hypoplasia |
| HP:0001913 | Granulocytopenia |
| HP:0002955 | Granulomatosis |
| HP:0006679 | Granulomatous coronary arteritis |
| HP:0002528 | Granulovacuolar degeneration |
| HP:0030903 | Grasp reflex |
| HP:0100647 | Graves disease |
| HP:0002281 | Gray matter heterotopias |
| HP:0000683 | Grayish enamel |
| HP:0011075 | Green teeth |
| HP:0003929 | Ground glass opacity of humeral diaphysis |
| HP:0025179 | Ground-glass opacification |
| HP:0030504 | Grouped congenital hypertrophy of retinal pigment epithelium |
| HP:0001507 | Growth abnormality |
| HP:0001510 | Growth delay |
| HP:0000824 | Growth hormone deficiency |
| HP:0000845 | Growth hormone excess |
| HP:0011160 | Gustatory auras |
| HP:0100274 | Gustatory lacrimation |
| HP:0025277 | Gustatory sweating |
| HP:0000771 | Gynecomastia |
| HP:0025026 | H-type rectovestibular fistula |
| HP:0003329 | Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes |
| HP:0007436 | Hair-nail ectodermal dysplasia |
| HP:0012167 | Hair-pulling |
| HP:0002826 | Halberd-shaped pelvis |
| HP:0100812 | Halitosis |
| HP:0000738 | Hallucinations |
| HP:0012007 | Hallucinatory auras |
| HP:0025004 | Hallux rigidus |
| HP:0001822 | Hallux valgus |
| HP:0008080 | Hallux varus |
| HP:0030670 | Hamartoma of the orbital region |
| HP:0001765 | Hammertoe |
| HP:0003089 | Hamstring contractures |
| HP:0001188 | Hand clenching |
| HP:0040251 | Hand dimples |
| HP:0004058 | Hand monodactyly |
| HP:0009130 | Hand muscle atrophy |
| HP:0030237 | Hand muscle weakness |
| HP:0001180 | Hand oligodactyly |
| HP:0001161 | Hand polydactyly |
| HP:0002378 | Hand tremor |
| HP:0012899 | Handgrip myotonia |
| HP:0040082 | Happy demeanor |
| HP:0000872 | Hashimoto thyroiditis |
| HP:0045047 | HbS hemoglobin |
| HP:0002599 | Head titubation |
| HP:0002346 | Head tremor |
| HP:0012168 | Head-banging |
| HP:0002315 | Headache |
| HP:0000364 | Hearing abnormality |
| HP:0000365 | Hearing impairment |
| HP:0012722 | Heart block |
| HP:0030148 | Heart murmur |
| HP:0002046 | Heat intolerance |
| HP:0012597 | Heavy proteinuria |
| HP:0002054 | Heavy supraorbital ridges |
| HP:0012313 | Heberden's node |
| HP:0005511 | Heinz body anemia |
| HP:0005202 | Helicobacter pylori infection |
| HP:0030845 | Heliotrope rash of eyelid |
| HP:0002248 | Hematemesis |
| HP:0002573 | Hematochezia |
| HP:0000790 | Hematuria |
| HP:0012047 | Hemeralopia |
| HP:0012377 | Hemianopia |
| HP:0100556 | Hemiatrophy |
| HP:0100557 | Hemiatrophy of lower limb |
| HP:0100558 | Hemiatrophy of upper limb |
| HP:0100248 | Hemiballismus |
| HP:0006813 | Hemiclonic seizures |
| HP:0011331 | Hemifacial atrophy |
| HP:0005323 | Hemifacial hypertrophy |
| HP:0011332 | Hemifacial hypoplasia |
| HP:0007332 | Hemifacial seizures |
| HP:0010828 | Hemifacial spasm |
| HP:0001528 | Hemihypertrophy |
| HP:0100553 | Hemihypertrophy of lower limb |
| HP:0100554 | Hemihypertrophy of upper limb |
| HP:0200053 | Hemihypotrophy of lower limb |
| HP:0011215 | Hemihypsarrhythmia |
| HP:0100875 | Hemimacroglossia |
| HP:0007206 | Hemimegalencephaly |
| HP:0001269 | Hemiparesis |
| HP:0002301 | Hemiplegia |
| HP:0004374 | Hemiplegia/hemiparesis |
| HP:0009790 | Hemisacrum |
| HP:0002937 | Hemivertebrae |
| HP:0100762 | Hemobilia |
| HP:0005507 | Hemoglobin Barts |
| HP:0011903 | Hemoglobin H |
| HP:0003641 | Hemoglobinuria |
| HP:0001878 | Hemolytic anemia |
| HP:0005575 | Hemolytic-uremic syndrome |
| HP:0011851 | Hemopericardium |
| HP:0011854 | Hemoperitoneum |
| HP:0012156 | Hemophagocytosis |
| HP:0002105 | Hemoptysis |
| HP:0011885 | Hemorrhage of the eye |
| HP:0012886 | Hemorrhagic ovarian cyst |
| HP:0012543 | Hemosiderinuria |
| HP:0012151 | Hemothorax |
| HP:0002159 | Heparan sulfate excretion in urine |
| HP:0011874 | Heparin-induced thrombocytopenia |
| HP:0001400 | Hepatic abscesses due to immunodeficiency |
| HP:0100839 | Hepatic agenesis |
| HP:0012280 | Hepatic amyloidosis |
| HP:0006574 | Hepatic arteriovenous malformation |
| HP:0012852 | Hepatic bridging fibrosis |
| HP:0006559 | Hepatic calcification |
| HP:0001407 | Hepatic cysts |
| HP:0002480 | Hepatic encephalopathy |
| HP:0001399 | Hepatic failure |
| HP:0001395 | Hepatic fibrosis |
| HP:0011955 | Hepatic granulomatosis |
| HP:0002605 | Hepatic necrosis |
| HP:0002614 | Hepatic periportal necrosis |
| HP:0001397 | Hepatic steatosis |
| HP:0006576 | Hepatic vascular malformations |
| HP:0030243 | Hepatic vein thrombosis |
| HP:0012115 | Hepatitis |
| HP:0001404 | Hepatocellular necrosis |
| HP:0030849 | Hepatojugular reflux |
| HP:0002240 | Hepatomegaly |
| HP:0001433 | Hepatosplenomegaly |
| HP:0100790 | Hernia |
| HP:0004299 | Hernia of the abdominal wall |
| HP:0008441 | Herniation of intervertebral nuclei |
| HP:0012302 | Herpes simplex encephalitis |
| HP:0007812 | Herpetiform corneal ulceration |
| HP:0001100 | Heterochromia iridis |
| HP:0030517 | Heteronymous hemianopia |
| HP:0030853 | Heterotaxy |
| HP:0002282 | Heterotopia |
| HP:0002036 | Hiatus hernia |
| HP:0007529 | Hidrotic ectodermal dysplasia |
| HP:0009890 | High anterior hairline |
| HP:0001042 | High axial triradius |
| HP:0000348 | High forehead |
| HP:0008808 | High iliac wings |
| HP:0012807 | High insertion of columella |
| HP:0005250 | High intestinal obstruction |
| HP:0011432 | High maternal serum alpha-fetoprotein |
| HP:0011433 | High maternal serum chorionic gonadotropin |
| HP:0010838 | High nonceruloplasmin-bound serum copper |
| HP:0000218 | High palate |
| HP:0001620 | High pitched voice |
| HP:0012891 | High posterior hairline |
| HP:0030852 | High pulse pressure |
| HP:0003492 | High urinary gonadotropin level |
| HP:0002705 | High, narrow palate |
| HP:0005101 | High-frequency hearing impairment |
| HP:0001757 | High-frequency sensorineural hearing impairment |
| HP:0008499 | High-grade hypermetropia |
| HP:0001722 | High-output congestive heart failure |
| HP:0002553 | Highly arched eyebrow |
| HP:0030234 | Highly elevated creatine phosphokinase |
| HP:0003273 | Hip contracture |
| HP:0002827 | Hip dislocation |
| HP:0001385 | Hip dysplasia |
| HP:0012515 | Hip flexor weakness |
| HP:0008843 | Hip osteoarthritis |
| HP:0030838 | Hip pain |
| HP:0030043 | Hip Subluxation |
| HP:0100316 | Hirano bodies |
| HP:0001007 | Hirsutism |
| HP:0002927 | Histidinuria |
| HP:0100727 | Histiocytosis |
| HP:0012077 | Histrionic personality disorder |
| HP:0001234 | Hitchhiker thumb |
| HP:0001615 | Hoarse cry |
| HP:0001609 | Hoarse voice |
| HP:0001360 | Holoprosencephaly |
| HP:0002156 | Homocystinuria |
| HP:0030516 | Homonymous hemianopia |
| HP:0025175 | Honeycomb lung |
| HP:0007465 | Honeycomb palmoplantar keratoderma |
| HP:0030820 | Hooded eyelid |
| HP:0030821 | Hooded lower eyelid |
| HP:0030822 | Hooded upper eyelid |
| HP:0010606 | Hordeolum |
| HP:0010607 | Hordeolum externum |
| HP:0010608 | Hordeolum internum |
| HP:0009897 | Horizontal crus of helix |
| HP:0011228 | Horizontal eyebrow |
| HP:0007286 | Horizontal jerk nystagmus |
| HP:0000666 | Horizontal nystagmus |
| HP:0008026 | Horizontal opticokinetic nystagmus |
| HP:0007811 | Horizontal pendular nystagmus |
| HP:0000888 | Horizontal ribs |
| HP:0003440 | Horizontal sacrum |
| HP:0007817 | Horizontal supranuclear gaze palsy |
| HP:0002277 | Horner syndrome |
| HP:0000085 | Horseshoe kidney |
| HP:0003867 | Humeral cortical irregularity |
| HP:0003868 | Humeral cortical thickening |
| HP:0003869 | Humeral cortical thinning |
| HP:0003875 | Humeral lytic defects |
| HP:0003913 | Humeral metaphyseal irregularity |
| HP:0003879 | Humeral pseudarthrosis |
| HP:0003881 | Humeral sclerosis |
| HP:0003041 | Humeroradial synostosis |
| HP:0003939 | Humeroulnar synostosis |
| HP:0003874 | Humerus varus |
| HP:0004594 | Hump-shaped mound of bone in central and posterior portions of vertebral endplate |
| HP:0030744 | Hyaloid vascular remnant and retrolental mass |
| HP:0002324 | Hydranencephaly |
| HP:0000034 | Hydrocele testis |
| HP:0000238 | Hydrocephalus |
| HP:0030711 | Hydrocolpos |
| HP:0030010 | Hydrometrocolpos |
| HP:0100565 | Hydromyelia |
| HP:0000126 | Hydronephrosis |
| HP:0011414 | Hydropic placenta |
| HP:0001789 | Hydrops fetalis |
| HP:0000072 | Hydroureter |
| HP:0003260 | Hydroxyprolinemia |
| HP:0003080 | Hydroxyprolinuria |
| HP:0010790 | Hyoplasia of the Leydig cells |
| HP:0030143 | Hyperactive bowel sounds |
| HP:0006801 | Hyperactive deep tendon reflexes |
| HP:0007083 | Hyperactive patellar reflex |
| HP:0000841 | Hyperactive renin-angiotensin system |
| HP:0000752 | Hyperactivity |
| HP:0010780 | Hyperacusis |
| HP:0003348 | Hyperalaninemia |
| HP:0012117 | Hyperalbuminemia |
| HP:0000859 | Hyperaldosteronism |
| HP:0012184 | Hyperalphalipoproteinemia |
| HP:0001987 | Hyperammonemia |
| HP:0008158 | Hyperapobetalipoproteinemia |
| HP:0030631 | Hyperautofluorescent macular lesion |
| HP:0025158 | Hyperautofluorescent retinal lesion |
| HP:0012556 | Hyperbetaalaninemia |
| HP:0003141 | Hyperbetalipoproteinemia |
| HP:0002904 | Hyperbilirubinemia |
| HP:0003072 | Hypercalcemia |
| HP:0002150 | Hypercalciuria |
| HP:0012416 | Hypercapnia |
| HP:0011423 | Hyperchloremia |
| HP:0001995 | Hyperchloremic acidosis |
| HP:0004918 | Hyperchloremic metabolic acidosis |
| HP:0002914 | Hyperchloriduria |
| HP:0003124 | Hypercholesterolemia |
| HP:0004857 | Hyperchromic macrocytic anemia |
| HP:0012238 | Hyperchylomicronemia |
| HP:0012406 | Hypercitraturia |
| HP:0100724 | Hypercoagulability |
| HP:0001812 | Hyperconvex fingernails |
| HP:0001795 | Hyperconvex nail |
| HP:0008407 | Hyperconvex thumb nails |
| HP:0030055 | Hyperconvex toenail |
| HP:0004603 | Hyperconvex vertebral body endplates |
| HP:0004719 | Hyperechogenic kidneys |
| HP:0006276 | Hyperechogenic pancreas |
| HP:0012188 | Hyperemesis gravidarum |
| HP:0100963 | Hyperesthesia |
| HP:0010485 | Hyperextensibility at elbow |
| HP:0005072 | Hyperextensibility at wrists |
| HP:0001187 | Hyperextensibility of the finger joints |
| HP:0010500 | Hyperextensibility of the knee |
| HP:0005639 | Hyperextensible hand joints |
| HP:0000974 | Hyperextensible skin |
| HP:0011930 | Hyperextensible skin of chest |
| HP:0007425 | Hyperextensible skin of face |
| HP:0005722 | Hyperextensible thumb |
| HP:0011899 | Hyperfibrinogenemia |
| HP:0040236 | Hyperfibrinolysis |
| HP:0012024 | Hypergalactosemia |
| HP:0003217 | Hyperglutaminemia |
| HP:0003074 | Hyperglycemia |
| HP:0002154 | Hyperglycinemia |
| HP:0003108 | Hyperglycinuria |
| HP:0000815 | Hypergonadotropic hypogonadism |
| HP:0025114 | Hypergranulosis |
| HP:0000975 | Hyperhidrosis |
| HP:0010906 | Hyperhistidinemia |
| HP:0002160 | Hyperhomocystinemia |
| HP:0000842 | Hyperinsulinemia |
| HP:0000825 | Hyperinsulinemic hypoglycemia |
| HP:0030890 | Hyperintensity of cerebral white matter on MRI |
| HP:0040272 | Hyperintensity of MRI T2 signal of the spinal cord |
| HP:0010913 | Hyperisoleucinemia |
| HP:0002153 | Hyperkalemia |
| HP:0005976 | Hyperkalemic metabolic acidosis |
| HP:0000962 | Hyperkeratosis |
| HP:0007570 | Hyperkeratosis lenticularis perstans |
| HP:0007448 | Hyperkeratosis over edematous areas |
| HP:0040180 | Hyperkeratosis pilaris |
| HP:0007390 | Hyperkeratosis with erythema |
| HP:0045059 | Hyperkeratotic papule |
| HP:0002487 | Hyperkinesis |
| HP:0011174 | Hyperkinetic seizures |
| HP:0010911 | Hyperleucinemia |
| HP:0003077 | Hyperlipidemia |
| HP:0010980 | Hyperlipoproteinemia |
| HP:0003307 | Hyperlordosis |
| HP:0002161 | Hyperlysinemia |
| HP:0003297 | Hyperlysinuria |
| HP:0002918 | Hypermagnesemia |
| HP:0012608 | Hypermagnesiuria |
| HP:0001034 | Hypermelanotic macule |
| HP:0003235 | Hypermethioninemia |
| HP:0007338 | Hypermetric saccades |
| HP:0000540 | Hypermetropia |
| HP:0006201 | Hypermobility of distal interphalangeal joints |
| HP:0005620 | Hypermobility of interphalangeal joints |
| HP:0010510 | Hypermobility of toe joints |
| HP:0007922 | Hypermyelinated retinal nerve fibers |
| HP:0003228 | Hypernatremia |
| HP:0004906 | Hypernatremic dehydration |
| HP:0012605 | Hypernatriuria |
| HP:0000484 | Hyperopic astigmatism |
| HP:0000710 | Hyperorality |
| HP:0012026 | Hyperornithinemia |
| HP:0100774 | Hyperostosis |
| HP:0005890 | Hyperostosis cranialis interna |
| HP:0004438 | Hyperostosis frontalis interna |
| HP:0003159 | Hyperoxaluria |
| HP:0012419 | Hyperoxemia |
| HP:0040009 | Hyperparakeratosis |
| HP:0000843 | Hyperparathyroidism |
| HP:0003238 | Hyperpepsinogenemia I |
| HP:0100770 | Hyperperistalsis |
| HP:0030368 | Hyperphalangy of the 2nd finger |
| HP:0004923 | Hyperphenylalaninemia |
| HP:0002905 | Hyperphosphatemia |
| HP:0003109 | Hyperphosphaturia |
| HP:0005586 | Hyperpigmentation in sun-exposed areas |
| HP:0007406 | Hyperpigmentation of eyelids |
| HP:0011512 | Hyperpigmentation of the fundus |
| HP:0000953 | Hyperpigmentation of the skin |
| HP:0030258 | Hyperpigmented genitalia |
| HP:0007481 | Hyperpigmented nevi |
| HP:0005606 | Hyperpigmented nevi and streak |
| HP:0007572 | Hyperpigmented streaks |
| HP:0007441 | Hyperpigmented/hypopigmented macules |
| HP:0010514 | Hyperpituitarism |
| HP:0012371 | Hyperplasia of midface |
| HP:0002822 | Hyperplasia of the femoral trochanters |
| HP:0010791 | Hyperplasia of the Leydig cells |
| HP:0430028 | Hyperplasia of the maxilla |
| HP:0430029 | Hyperplasia of the premaxilla |
| HP:0030268 | Hyperplastic callus formation |
| HP:0012882 | Hyperplastic labia majora |
| HP:0008358 | Hyperprolinemia |
| HP:0003527 | Hyperprostaglandinuria |
| HP:0002152 | Hyperproteinemia |
| HP:0001347 | Hyperreflexia |
| HP:0007350 | Hyperreflexia in upper limbs |
| HP:0007054 | Hyperreflexia proximally |
| HP:0010896 | Hypersarcosinemia |
| HP:0010897 | Hypersarcosinuria |
| HP:0004821 | Hypersegmentation of neutrophil nuclei |
| HP:0006206 | Hypersegmentation of proximal phalanx of second finger |
| HP:0011929 | Hypersegmentation of proximal phalanx of third finger |
| HP:0006516 | Hypersensitivity pneumonitis |
| HP:0030214 | Hypersexuality |
| HP:0100786 | Hypersomnia |
| HP:0001971 | Hypersplenism |
| HP:0000316 | Hypertelorism |
| HP:0000822 | Hypertension |
| HP:0002640 | Hypertension associated with pheochromocytoma |
| HP:0100735 | Hypertensive crisis |
| HP:0001095 | Hypertensive retinopathy |
| HP:0003354 | Hyperthreoninemia |
| HP:0003296 | Hyperthreoninuria |
| HP:0000836 | Hyperthyroidism |
| HP:0001276 | Hypertonia |
| HP:0001986 | Hypertonic dehydration |
| HP:0000998 | Hypertrichosis |
| HP:0002155 | Hypertriglyceridemia |
| HP:0008608 | Hypertrophic auricular cartilage |
| HP:0001639 | Hypertrophic cardiomyopathy |
| HP:0003382 | Hypertrophic nerve changes |
| HP:0007403 | Hypertrophy of skin of soles |
| HP:0010496 | Hypertrophy of the lower limb |
| HP:0010484 | Hypertrophy of the upper limb |
| HP:0008635 | Hypertrophy of the urinary bladder |
| HP:0003231 | Hypertyrosinemia |
| HP:0002149 | Hyperuricemia |
| HP:0003149 | Hyperuricosuria |
| HP:0010910 | Hypervalinemia |
| HP:0002883 | Hyperventilation |
| HP:0011105 | Hypervolemia |
| HP:0011886 | Hyphema |
| HP:0002519 | Hypnagogic hallucinations |
| HP:0012459 | Hypnic headache |
| HP:0006896 | Hypnopompic hallucinations |
| HP:0030144 | Hypoactive bowel sounds |
| HP:0003073 | Hypoalbuminemia |
| HP:0003233 | Hypoalphalipoproteinemia |
| HP:0100493 | Hypoammonemia |
| HP:0005961 | Hypoargininemia |
| HP:0030632 | Hypoautofluorescent macular lesion |
| HP:0025159 | Hypoautofluorescent retinal lesion |
| HP:0003563 | Hypobetalipoproteinemia |
| HP:0002901 | Hypocalcemia |
| HP:0002199 | Hypocalcemic seizures |
| HP:0003472 | Hypocalcemic tetany |
| HP:0011084 | Hypocalcification of dental enamel |
| HP:0003127 | Hypocalciuria |
| HP:0012417 | Hypocapnia |
| HP:0003113 | Hypochloremia |
| HP:0005977 | Hypochloremic metabolic alkalosis |
| HP:0012601 | Hypochloriduria |
| HP:0003146 | Hypocholesterolemia |
| HP:0001931 | Hypochromic anemia |
| HP:0004840 | Hypochromic microcytic anemia |
| HP:0012405 | Hypocitraturia |
| HP:0011967 | Hypocupremia |
| HP:0000668 | Hypodontia |
| HP:0006849 | Hypodysplasia of the corpus callosum |
| HP:0011900 | Hypofibrinogenemia |
| HP:0025150 | Hypoganglionosis |
| HP:0001943 | Hypoglycemia |
| HP:0001325 | Hypoglycemic coma |
| HP:0006929 | Hypoglycemic encephalopathy |
| HP:0002173 | Hypoglycemic seizures |
| HP:0012277 | Hypoglycinemia |
| HP:0011972 | Hypoglycorrhachia |
| HP:0030046 | Hypoglycosylation of alpha-dystroglycan |
| HP:0000135 | Hypogonadism |
| HP:0000044 | Hypogonadotrophic hypogonadism |
| HP:0000966 | Hypohidrosis |
| HP:0007550 | Hypohidrosis or hyperhidrosis |
| HP:0007607 | Hypohidrotic ectodermal dysplasia |
| HP:0040216 | Hypoinsulinemia |
| HP:0007103 | Hypointensity of cerebral white matter on MRI |
| HP:0002900 | Hypokalemia |
| HP:0001949 | Hypokalemic alkalosis |
| HP:0004909 | Hypokalemic hypochloremic metabolic alkalosis |
| HP:0001960 | Hypokalemic metabolic alkalosis |
| HP:0001985 | Hypoketotic hypoglycemia |
| HP:0002375 | Hypokinesia |
| HP:0011173 | Hypokinetic seizures |
| HP:0045014 | Hypolipidemia |
| HP:0010981 | Hypolipoproteinemia |
| HP:0002917 | Hypomagnesemia |
| HP:0012609 | Hypomagnesiuria |
| HP:0011085 | Hypomature dental enamel |
| HP:0009719 | Hypomelanotic macule |
| HP:0003658 | Hypomethioninemia |
| HP:0007975 | Hypometric horizontal saccades |
| HP:0000571 | Hypometric saccades |
| HP:0000338 | Hypomimic face |
| HP:0006285 | Hypomineralization of enamel |
| HP:0100271 | Hyponasal speech |
| HP:0002902 | Hyponatremia |
| HP:0012604 | Hyponatriuria |
| HP:0000829 | Hypoparathyroidism |
| HP:0100771 | Hypoperistalsis |
| HP:0002148 | Hypophosphatemia |
| HP:0004912 | Hypophosphatemic rickets |
| HP:0012365 | Hypophosphaturia |
| HP:0005599 | Hypopigmentation of hair |
| HP:0007894 | Hypopigmentation of the fundus |
| HP:0001010 | Hypopigmentation of the skin |
| HP:0030259 | Hypopigmented genitalia |
| HP:0001053 | Hypopigmented skin patches |
| HP:0007526 | Hypopigmented skin patches on arms |
| HP:0007535 | Hypopigmented streaks |
| HP:0040075 | Hypopituitarism |
| HP:0030241 | Hypoplasia of deltoid muscle |
| HP:0006297 | Hypoplasia of dental enamel |
| HP:0430009 | Hypoplasia of eyelid |
| HP:0004660 | Hypoplasia of facial musculature |
| HP:0011430 | Hypoplasia of fetal nasal bone |
| HP:0006657 | Hypoplasia of first ribs |
| HP:0009026 | Hypoplasia of latissimus dorsi muscle |
| HP:0003759 | Hypoplasia of lymphatic vessels |
| HP:0007036 | Hypoplasia of olfactory tract |
| HP:0008736 | Hypoplasia of penis |
| HP:0006442 | Hypoplasia of proximal fibula |
| HP:0006434 | Hypoplasia of proximal radius |
| HP:0004762 | Hypoplasia of right ventricle |
| HP:0009011 | Hypoplasia of serratus anterior muscle |
| HP:0000685 | Hypoplasia of teeth |
| HP:0005247 | Hypoplasia of the abdominal wall musculature |
| HP:0010666 | Hypoplasia of the anterior nasal spine |
| HP:0009739 | Hypoplasia of the antihelix |
| HP:0005343 | Hypoplasia of the bladder |
| HP:0002365 | Hypoplasia of the brainstem |
| HP:0012789 | Hypoplasia of the calcaneus |
| HP:0003090 | Hypoplasia of the capital femoral epiphysis |
| HP:0007774 | Hypoplasia of the ciliary body |
| HP:0008586 | Hypoplasia of the cochlea |
| HP:0002079 | Hypoplasia of the corpus callosum |
| HP:0040221 | Hypoplasia of the dental root |
| HP:0040044 | Hypoplasia of the diaphragm |
| HP:0100720 | Hypoplasia of the ear cartilage |
| HP:0040043 | Hypoplasia of the eccrine sweat glands |
| HP:0005349 | Hypoplasia of the epiglottis |
| HP:0008697 | Hypoplasia of the fallopian tube |
| HP:0008802 | Hypoplasia of the femoral head |
| HP:0007750 | Hypoplasia of the fovea |
| HP:0005466 | Hypoplasia of the frontal bone |
| HP:0007333 | Hypoplasia of the frontal lobes |
| HP:0005233 | Hypoplasia of the gallbladder |
| HP:0007676 | Hypoplasia of the iris |
| HP:0008345 | Hypoplasia of the iris dilator muscle |
| HP:0007892 | Hypoplasia of the lacrimal puncta |
| HP:0008801 | Hypoplasia of the lesser trochanter |
| HP:0007697 | Hypoplasia of the lower eyelids |
| HP:0000327 | Hypoplasia of the maxilla |
| HP:0009004 | Hypoplasia of the musculature |
| HP:0004646 | Hypoplasia of the nasal bone |
| HP:0003311 | Hypoplasia of the odontoid process |
| HP:0007096 | Hypoplasia of the optic tract |
| HP:0008724 | Hypoplasia of the ovary |
| HP:0010746 | Hypoplasia of the phalanges of the toes |
| HP:0009555 | Hypoplasia of the pharynx |
| HP:0012110 | Hypoplasia of the pons |
| HP:0010650 | Hypoplasia of the premaxilla |
| HP:0006334 | Hypoplasia of the primary teeth |
| HP:0008687 | Hypoplasia of the prostate |
| HP:0007348 | Hypoplasia of the pyramidal tract |
| HP:0002984 | Hypoplasia of the radius |
| HP:0007770 | Hypoplasia of the retina |
| HP:0011382 | Hypoplasia of the semicircular canal |
| HP:0004790 | Hypoplasia of the small intestine |
| HP:0000778 | Hypoplasia of the thymus |
| HP:0006353 | Hypoplasia of the tooth germ |
| HP:0003022 | Hypoplasia of the ulna |
| HP:0030239 | Hypoplasia of the upper arm musculature |
| HP:0040032 | Hypoplasia of the upper eyelids |
| HP:0000013 | Hypoplasia of the uterus |
| HP:0008726 | Hypoplasia of the vagina |
| HP:0006850 | Hypoplasia of the ventral pons |
| HP:0011394 | Hypoplasia of the vestibular nerve |
| HP:0011378 | Hypoplasia of the vestibule of the inner ear |
| HP:0010669 | Hypoplasia of the zygomatic bone |
| HP:0008424 | Hypoplastic 5th lumbar vertebrae |
| HP:0003274 | Hypoplastic acetabulae |
| HP:0001908 | Hypoplastic anemia |
| HP:0030303 | Hypoplastic anterior commissure |
| HP:0012304 | Hypoplastic aortic arch |
| HP:0100853 | Hypoplastic areola |
| HP:0009007 | Hypoplastic biceps |
| HP:0008434 | Hypoplastic cervical vertebrae |
| HP:0008447 | Hypoplastic coccygeal vertebrae |
| HP:0005210 | Hypoplastic colon |
| HP:0005025 | Hypoplastic distal humeri |
| HP:0006386 | Hypoplastic distal radial epiphyses |
| HP:0006631 | Hypoplastic distal segments of scapulae |
| HP:0002692 | Hypoplastic facial bones |
| HP:0012815 | Hypoplastic female external genitalia |
| HP:0008398 | Hypoplastic fifth fingernail |
| HP:0011937 | Hypoplastic fifth toenail |
| HP:0001804 | Hypoplastic fingernail |
| HP:0002738 | Hypoplastic frontal sinuses |
| HP:0001961 | Hypoplastic heart |
| HP:0008589 | Hypoplastic helices |
| HP:0000946 | Hypoplastic ilia |
| HP:0008824 | Hypoplastic iliac body |
| HP:0002866 | Hypoplastic iliac wing |
| HP:0008821 | Hypoplastic inferior ilia |
| HP:0008823 | Hypoplastic inferior pubic rami |
| HP:0007990 | Hypoplastic iris stroma |
| HP:0003175 | Hypoplastic ischia |
| HP:0008822 | Hypoplastic ischiopubic rami |
| HP:0030279 | Hypoplastic L5 vertebral pedicle |
| HP:0000059 | Hypoplastic labia majora |
| HP:0000064 | Hypoplastic labia minora |
| HP:0007900 | Hypoplastic lacrimal duct |
| HP:0005156 | Hypoplastic left atrium |
| HP:0004383 | Hypoplastic left heart |
| HP:0000050 | Hypoplastic male external genitalia |
| HP:0005281 | Hypoplastic nasal bridge |
| HP:0005104 | Hypoplastic nasal septum |
| HP:0005278 | Hypoplastic nasal tip |
| HP:0040258 | Hypoplastic nasopharyngeal adenoids |
| HP:0002557 | Hypoplastic nipples |
| HP:0006894 | Hypoplastic olfactory lobes |
| HP:0008839 | Hypoplastic pelvis |
| HP:0005326 | Hypoplastic philtrum |
| HP:0007515 | Hypoplastic pilosebaceous units |
| HP:0012519 | Hypoplastic posterior communicating artery |
| HP:0003173 | Hypoplastic pubic bone |
| HP:0008830 | Hypoplastic pubic rami |
| HP:0005304 | Hypoplastic pulmonary veins |
| HP:0003997 | Hypoplastic radial head |
| HP:0010954 | Hypoplastic right heart |
| HP:0008475 | Hypoplastic sacral vertebrae |
| HP:0004590 | Hypoplastic sacrum |
| HP:0000882 | Hypoplastic scapulae |
| HP:0008460 | Hypoplastic spinal processes |
| HP:0006270 | Hypoplastic spleen |
| HP:0008559 | Hypoplastic superior helix |
| HP:0007387 | Hypoplastic sweat glands |
| HP:0012553 | Hypoplastic thumbnail |
| HP:0001800 | Hypoplastic toenails |
| HP:0011573 | Hypoplastic tricuspid valve |
| HP:0008479 | Hypoplastic vertebral bodies |
| HP:0030278 | Hypoplastic vertebral pedicle |
| HP:0007411 | Hypoplastic-absent sebaceous glands |
| HP:0040213 | Hypopnea |
| HP:0003075 | Hypoproteinemia |
| HP:0007609 | Hypoproteinemic edema |
| HP:0030625 | Hyporeflective spaces on macular OCT |
| HP:0001265 | Hyporeflexia |
| HP:0002600 | Hyporeflexia of lower limbs |
| HP:0012391 | Hyporeflexia of upper limbs |
| HP:0011447 | Hyposegmentation of neutrophil nuclei |
| HP:0012279 | Hyposerinemia |
| HP:0004409 | Hyposmia |
| HP:0000047 | Hypospadias |
| HP:0003158 | Hyposthenuria |
| HP:0000601 | Hypotelorism |
| HP:0002615 | Hypotension |
| HP:0025058 | Hypothalamic atrophy |
| HP:0025037 | Hypothalamic gliosis |
| HP:0003164 | Hypothalamic gonadotropin-releasing hormone deficiency |
| HP:0012661 | Hypothalamic hypometabolism in FDG PET |
| HP:0008237 | Hypothalamic hypothyroidism |
| HP:0012287 | Hypothalamic luteinizing hormone-releasing hormone deficiency |
| HP:0002045 | Hypothermia |
| HP:0000821 | Hypothyroidism |
| HP:0001006 | Hypotrichosis |
| HP:0004782 | Hypotrichosis of the scalp |
| HP:0012153 | Hypotriglyceridemia |
| HP:0006006 | Hypotrophy of the small hand muscles |
| HP:0003537 | Hypouricemia |
| HP:0002791 | Hypoventilation |
| HP:0011106 | Hypovolemia |
| HP:0012418 | Hypoxemia |
| HP:0002521 | Hypsarrhythmia |
| HP:0008064 | Ichthyosis |
| HP:0002720 | IgA deficiency |
| HP:0000794 | IgA deposition in the glomerulus |
| HP:0005479 | IgE deficiency |
| HP:0004315 | IgG deficiency |
| HP:0002850 | IgM deficiency |
| HP:0011102 | Ileal atresia |
| HP:0002595 | Ileus |
| HP:0008786 | Iliac crest serration |
| HP:0009780 | Iliac horns |
| HP:0012008 | Illusory auras |
| HP:0005560 | Imbalanced hemoglobin synthesis |
| HP:0012263 | Immotile cilia |
| HP:0002958 | Immune dysregulation |
| HP:0002721 | Immunodeficiency |
| HP:0008348 | Immunoglobulin IgG2 deficiency |
| HP:0100326 | Immunologic hypersensitivity |
| HP:0030788 | Impacted cerumen |
| HP:0011079 | Impacted tooth |
| HP:0000728 | Impaired ability to form peer relationships |
| HP:0004866 | Impaired ADP-induced platelet aggregation |
| HP:0011870 | Impaired arachidonic acid-induced platelet aggregation |
| HP:0040237 | Impaired binding of factor VIII to VWF |
| HP:0008320 | Impaired collagen-induced platelet aggregation |
| HP:0000619 | Impaired convergence |
| HP:0006858 | Impaired distal proprioception |
| HP:0006937 | Impaired distal tactile sensation |
| HP:0006886 | Impaired distal vibration sensation |
| HP:0008148 | Impaired epinephrine-induced platelet aggregation |
| HP:0003295 | Impaired FSH and LH secretion |
| HP:0005959 | Impaired gluconeogenesis |
| HP:0008666 | Impaired histidine renal tubular absorption |
| HP:0001151 | Impaired horizontal smooth pursuit |
| HP:0002959 | Impaired Ig class switch recombination |
| HP:0003347 | Impaired lymphocyte transformation with phytohemagglutinin |
| HP:0002847 | Impaired memory B-cell generation |
| HP:0006670 | Impaired myocardial contractility |
| HP:0011993 | Impaired neutrophil bactericidal activity |
| HP:0040238 | Impaired neutrophil chemotaxis |
| HP:0005512 | Impaired neutrophil killing of staphylococci |
| HP:0000634 | Impaired ocular abduction |
| HP:0000542 | Impaired ocular adduction |
| HP:0007328 | Impaired pain sensation |
| HP:0008352 | Impaired platelet adhesion |
| HP:0003540 | Impaired platelet aggregation |
| HP:0010831 | Impaired proprioception |
| HP:0007668 | Impaired pursuit initiation and maintenance |
| HP:0005579 | Impaired reabsorption of chloride |
| HP:0004727 | Impaired renal concentrating ability |
| HP:0004732 | Impaired renal uric acid clearance |
| HP:0030129 | Impaired ristocetin cofactor assay activity |
| HP:0011871 | Impaired ristocetin-induced platelet aggregation |
| HP:0007772 | Impaired smooth pursuit |
| HP:0000735 | Impaired social interactions |
| HP:0012760 | Impaired social reciprocity |
| HP:0030331 | Impaired stimulus-induced skin wrinkling |
| HP:0005435 | Impaired T cell function |
| HP:0010830 | Impaired tactile sensation |
| HP:0010829 | Impaired temperature sensation |
| HP:0006901 | Impaired thermal sensitivity |
| HP:0011872 | Impaired thrombin-induced platelet aggregation |
| HP:0011894 | Impaired thromboxane A2 agonist-induced platelet aggregation |
| HP:0011811 | Impaired touch localization |
| HP:0011810 | Impaired two-point discrimination |
| HP:0000758 | Impaired use of nonverbal behaviors |
| HP:0006938 | Impaired vibration sensation at ankles |
| HP:0002166 | Impaired vibration sensation in the lower limbs |
| HP:0002495 | Impaired vibratory sensation |
| HP:0030183 | Impaired visually enhanced vestibulo-ocular reflex |
| HP:0010794 | Impaired visuospatial constructive cognition |
| HP:0030130 | Impaired von Willibrand factor collagen binding activity |
| HP:0011033 | Impairment of fructose metabolism |
| HP:0004915 | Impairment of galactose metabolism |
| HP:0040123 | Impairment of the reflex of the tensor tympanii muscle |
| HP:0040122 | Impairment of the the acoustic reflex |
| HP:0005934 | Imperfect vocal cord adduction |
| HP:0011574 | Imperforate atrioventricular valve |
| HP:0030011 | Imperforate hymen |
| HP:0011575 | Imperforate tricuspid valve |
| HP:0000802 | Impotence |
| HP:0100710 | Impulsivity |
| HP:0002540 | Inability to walk |
| HP:0006915 | Inability to walk by childhood/adolescence |
| HP:0011791 | Inactivating thyroid-stimulating hormone receptor defect |
| HP:0000719 | Inappropriate behavior |
| HP:0030215 | Inappropriate crying |
| HP:0000748 | Inappropriate laughter |
| HP:0008768 | Inappropriate sexual behavior |
| HP:0040182 | Inappropriate sinus tachycardia |
| HP:0004872 | Incisional hernia |
| HP:0011081 | Incisor macrodontia |
| HP:0025068 | Incomitant strabismus |
| HP:0010861 | Incomplete breech presentation |
| HP:0011340 | Incomplete cleft of the upper lip |
| HP:0030641 | Incomplete congenital stationary night blindness |
| HP:0008656 | Incomplete male pseudohermaphroditism |
| HP:0430012 | Incomplete ossification of palatine bone |
| HP:0030042 | Incomplete ossification of pubis |
| HP:0011373 | Incomplete partition of the cochlea |
| HP:0011374 | Incomplete partition of the cochlea type I |
| HP:0000376 | Incomplete partition of the cochlea type II |
| HP:0002546 | Incomprehensible speech |
| HP:0002311 | Incoordination |
| HP:0005404 | Increase in B cell number |
| HP:0100828 | Increase in T cell count |
| HP:0040015 | Increased activity of mitochondrial respiratory chain |
| HP:0030686 | Increased adiponectin level |
| HP:0009126 | Increased adipose tissue |
| HP:0000468 | Increased adipose tissue around the neck |
| HP:0005413 | Increased alpha-globulin |
| HP:0005253 | Increased anterioposterior diameter of thorax |
| HP:0004581 | Increased anterior vertebral height |
| HP:0010702 | Increased antibody level in blood |
| HP:0012771 | Increased arm span |
| HP:0007800 | Increased axial globe length |
| HP:0003138 | Increased blood urea nitrogen |
| HP:0045083 | Increased body mass index |
| HP:0004324 | Increased body weight |
| HP:0005700 | Increased bone density with cystic changes |
| HP:0011001 | Increased bone mineral density |
| HP:0030796 | Increased C-peptide level |
| HP:0012273 | Increased carotid artery intimal medial thickness |
| HP:0003102 | Increased carrying angle |
| HP:0012644 | Increased caudate lactate level |
| HP:0003224 | Increased cellular sensitivity to UV light |
| HP:0011813 | Increased cerebral lipofuscin |
| HP:0003154 | Increased circulating ACTH level |
| HP:0030348 | Increased circulating androgen level |
| HP:0025346 | Increased circulating beta-2-microglobulin level |
| HP:0003118 | Increased circulating cortisol level |
| HP:0030781 | Increased circulating free fatty acid level |
| HP:0000837 | Increased circulating gonadotropin level |
| HP:0000848 | Increased circulating renin level |
| HP:0003362 | Increased circulating very-low-density lipoprotein cholesterol |
| HP:0030387 | Increased class-switched memory B cell count |
| HP:0009025 | Increased connective tissue |
| HP:0100692 | Increased corneal curvature |
| HP:0011487 | Increased corneal thickness |
| HP:0009709 | Increased CSF interferon alpha |
| HP:0002490 | Increased CSF lactate |
| HP:0002922 | Increased CSF protein |
| HP:0012796 | Increased cup-to-disc ratio |
| HP:0006440 | Increased density of long bone diaphyses |
| HP:0006392 | Increased density of long bones |
| HP:0005875 | Increased dermatoglyphic whorls |
| HP:0045050 | Increased DLCO |
| HP:0100297 | Increased endomysial connective tissue |
| HP:0012187 | Increased erythrocyte protoporphyrin concentration |
| HP:0003463 | Increased extraneuronal autofluorescent lipopigment |
| HP:0000287 | Increased facial adipose tissue |
| HP:0030019 | Increased female libido |
| HP:0010519 | Increased fetal movement |
| HP:0012107 | Increased fibular diameter |
| HP:0012354 | Increased fucosylation of N-linked protein glycosylation |
| HP:0012361 | Increased fucosylation of O-linked protein glycosylation |
| HP:0012214 | Increased glomerular filtration rate |
| HP:0030688 | Increased glucagon level |
| HP:0007450 | Increased groin pigmentation with raindrop depigmentation |
| HP:0045048 | Increased HbA2 hemoglobin |
| HP:0040194 | Increased head circumference |
| HP:0001899 | Increased hematocrit |
| HP:0001900 | Increased hemoglobin |
| HP:0004825 | Increased hemoglobin oxygen affinity |
| HP:0006568 | Increased hepatic glycogen content |
| HP:0006565 | Increased hepatocellular lipid droplets |
| HP:0003261 | Increased IgA level |
| HP:0003212 | Increased IgE level |
| HP:0003237 | Increased IgG level |
| HP:0003496 | Increased IgM level |
| HP:0030377 | Increased immature B cell count |
| HP:0012649 | Increased inflammatory response |
| HP:0030320 | Increased intervertebral space |
| HP:0008993 | Increased intraabdominal fat |
| HP:0003575 | Increased intracellular sodium |
| HP:0002516 | Increased intracranial pressure |
| HP:0008985 | Increased intramuscular fat |
| HP:0012240 | Increased intramyocellular lipid droplets |
| HP:0007906 | Increased intraocular pressure |
| HP:0030205 | Increased jitter at single fibre EMG |
| HP:0009926 | Increased lacrimation |
| HP:0006460 | Increased laxity of ankles |
| HP:0006149 | Increased laxity of fingers |
| HP:0010504 | Increased length of the tibia |
| HP:0040178 | Increased level of platelet-activating factor |
| HP:0030887 | Increased lymphocyte apoptosis |
| HP:0012357 | Increased mannosylation of N-linked protein glycosylation |
| HP:0030385 | Increased marginal zone B cell count |
| HP:0005518 | Increased mean corpuscular volume |
| HP:0011877 | Increased mean platelet volume |
| HP:0005513 | Increased megakaryocyte count |
| HP:0030375 | Increased memory B cell count |
| HP:0040014 | Increased mitochondrial number |
| HP:0003750 | Increased muscle fatiguability |
| HP:0009051 | Increased muscle glycogen content |
| HP:0009058 | Increased muscle lipid content |
| HP:0030371 | Increased naive B cell count |
| HP:0002074 | Increased neuronal autofluorescent lipopigment |
| HP:0012552 | Increased neutrophil nuclear projections |
| HP:0010880 | Increased nuchal translucency |
| HP:0002851 | Increased number of CD4-/CD8- T cells expressing alpha/beta T-cell receptors |
| HP:0025164 | Increased number of elastic fibers in the dermis |
| HP:0002845 | Increased number of peripheral CD3+ T cells |
| HP:0007522 | Increased number of skin folds |
| HP:0011069 | Increased number of teeth |
| HP:0030618 | Increased OCT-measured foveal thickness |
| HP:0030608 | Increased OCT-measured macular thickness |
| HP:0030174 | Increased peripheral myelin thickness |
| HP:0003240 | Increased phosphoribosylpyrophosphate synthetase |
| HP:0012686 | Increased pineal volume |
| HP:0045063 | Increased PIVKA-II |
| HP:0040239 | Increased plasma vitamin K epoxide after vitamin K supplementation |
| HP:0001726 | Increased prevalence of valvular disease |
| HP:0002853 | Increased proportion of HLA DR+ and CD57+ T cells |
| HP:0030876 | Increased pulmonary capillary wedge pressure |
| HP:0005317 | Increased pulmonary vascular resistance |
| HP:0004368 | Increased purine levels |
| HP:0025075 | Increased QRS voltage |
| HP:0003451 | Increased rate of premature chromosome condensation |
| HP:0040240 | Increased ratio of VWF propeptide to VWF antigen |
| HP:0001898 | Increased red blood cell mass |
| HP:0008269 | Increased red cell hemolysis by shear stress |
| HP:0005502 | Increased red cell osmotic fragility |
| HP:0005546 | Increased red cell osmotic resistance |
| HP:0008346 | Increased red cell sickling tendency |
| HP:0005571 | Increased renal tubular phosphate reabsorption |
| HP:0012339 | Increased resting energy expenditure |
| HP:0007986 | Increased retinal vascularity |
| HP:0040241 | Increased RIPA |
| HP:0030232 | Increased sarcoplasmic glycogen |
| HP:0012857 | Increased scrotal rugation |
| HP:0011133 | Increased sensitivity to ionizing radiation |
| HP:0003152 | Increased serum 1,25-dihydroxyvitamin D3 |
| HP:0003333 | Increased serum beta-hexosaminidase |
| HP:0012202 | Increased serum bile acid concentration |
| HP:0200150 | Increased serum bile acid concentration during pregnancy |
| HP:0025134 | Increased serum estradiol |
| HP:0025136 | Increased serum estriol |
| HP:0025139 | Increased serum estrone |
| HP:0003281 | Increased serum ferritin |
| HP:0011788 | Increased serum free triiodothyronine |
| HP:0003538 | Increased serum iduronate sulfatase activity |
| HP:0030269 | Increased serum insulin-like growth factor 1 {comment="HPO:probinson"} |
| HP:0030356 | Increased serum interferon-gamma level |
| HP:0030783 | Increased serum interleukin-6 |
| HP:0003452 | Increased serum iron |
| HP:0002151 | Increased serum lactate |
| HP:0003566 | Increased serum prostaglandin E2 |
| HP:0003542 | Increased serum pyruvate |
| HP:0003144 | Increased serum serotonin |
| HP:0030088 | Increased serum testosterone level |
| HP:0011424 | Increased serum zinc |
| HP:0012351 | Increased sialylation of N-linked protein glycosylation |
| HP:0040261 | Increased size of nasopharyngeal adenoids |
| HP:0040253 | Increased size of the clitoris |
| HP:0004330 | Increased skull ossification |
| HP:0004563 | Increased spinal bone density |
| HP:0009003 | Increased subcutaneous truncal adipose tissue |
| HP:0002659 | Increased susceptibility to fractures |
| HP:0010998 | Increased susceptibility to spontaneous sister chromatid exchange |
| HP:0012559 | Increased T3/T4 ratio |
| HP:0003573 | Increased total bilirubin |
| HP:0025196 | Increased total iron binding capacity |
| HP:0030381 | Increased transitional B cell count |
| HP:0012774 | Increased upper to lower segment ratio |
| HP:0010839 | Increased urinary copper concentration |
| HP:0012030 | Increased urinary cortisol level |
| HP:0012066 | Increased urinary disaccharide excretion |
| HP:0011814 | Increased urinary hypoxanthine |
| HP:0003461 | Increased urinary O-linked sialopeptides |
| HP:0012217 | Increased urinary porphobilinogen |
| HP:0003081 | Increased urinary potassium |
| HP:0025157 | Increased urinary sedoheptulose |
| HP:0012613 | Increased urinary sulfate |
| HP:0011942 | Increased urinary sulfite |
| HP:0003166 | Increased urinary taurine |
| HP:0011943 | Increased urinary thiosulfate |
| HP:0012611 | Increased urinary urate |
| HP:0012402 | Increased urine alpha-ketoglutarate concentration |
| HP:0003557 | Increased variability in muscle fiber diameter |
| HP:0004570 | Increased vertebral height |
| HP:0007566 | Index finger dermatoglyphic radial loop |
| HP:0030369 | Induced vaginal delivery |
| HP:0030216 | Inertia |
| HP:0011406 | Infancy onset short-trunk short stature |
| HP:0009062 | Infantile axial hypotonia |
| HP:0007105 | Infantile encephalopathy |
| HP:0008250 | Infantile hypercalcemia |
| HP:0008947 | Infantile muscular hypotonia |
| HP:0008610 | Infantile sensorineural hearing impairment |
| HP:0012469 | Infantile spasms |
| HP:0008494 | Inferior lens subluxation |
| HP:0100860 | Inferior mesenteric artery aneurysm |
| HP:0007068 | Inferior vermis hypoplasia |
| HP:0000789 | Infertility |
| HP:0002037 | Inflammation of the large intestine |
| HP:0100533 | Inflammatory abnormality of the eye |
| HP:0011123 | Inflammatory abnormality of the skin |
| HP:0005291 | Inflammatory arteriopathy |
| HP:0009071 | Inflammatory myopathy |
| HP:0000732 | Inflexible adherence to routines or rituals |
| HP:0011685 | Infra-aortic superior vena cava |
| HP:0100876 | Infra-orbital crease |
| HP:0011232 | Infra-orbital fold |
| HP:0011721 | Infracardiac total anomalous pulmonary venous connection |
| HP:0012710 | Ingrown nail |
| HP:0030052 | Inguinal freckling |
| HP:0000023 | Inguinal hernia |
| HP:0011622 | Inlet ventricular septal defect |
| HP:0030620 | Inner retinal layer loss on macular OCT |
| HP:0100785 | Insomnia |
| HP:0005348 | Inspiratory stridor |
| HP:0030894 | Insufficient response to short acting pulmonary vasodilator |
| HP:0008189 | Insulin insensitivity |
| HP:0000855 | Insulin resistance |
| HP:0008205 | Insulin-dependent but ketosis-resistant diabetes |
| HP:0000831 | Insulin-resistant diabetes mellitus |
| HP:0000877 | Insulin-resistant diabetes mellitus at puberty |
| HP:0001249 | Intellectual disability |
| HP:0006889 | Intellectual disability, borderline |
| HP:0001256 | Intellectual disability, mild |
| HP:0002342 | Intellectual disability, moderate |
| HP:0002187 | Intellectual disability, profound |
| HP:0006887 | Intellectual disability, progressive |
| HP:0010864 | Intellectual disability, severe |
| HP:0002080 | Intention tremor |
| HP:0004878 | Intercostal muscle weakness |
| HP:0030864 | Intercostal retractions |
| HP:0009757 | Intercrural pterygium |
| HP:0100888 | Interdigital loops |
| HP:0025344 | Interlobular bile duct destruction |
| HP:0030879 | Interlobular septal thickening |
| HP:0011576 | Intermediate atrioventricular canal defect |
| HP:0012124 | Intermediate uveitis |
| HP:0004417 | Intermittent claudication |
| HP:0002254 | Intermittent diarrhea |
| HP:0004889 | Intermittent episodes of respiratory insufficiency due to muscle weakness |
| HP:0007432 | Intermittent generalized erythematous papular rash |
| HP:0005941 | Intermittent hyperpnea at rest |
| HP:0004879 | Intermittent hyperventilation |
| HP:0005964 | Intermittent hypothermia |
| HP:0001046 | Intermittent jaundice |
| HP:0004913 | Intermittent lactic acidemia |
| HP:0007944 | Intermittent microsaccadic pursuits |
| HP:0011964 | Intermittent painful muscle spasms |
| HP:0004854 | Intermittent thrombocytopenia |
| HP:0012159 | Internal carotid artery dissection |
| HP:0005290 | Internal carotid artery hypoplasia |
| HP:0011029 | Internal hemorrhage |
| HP:0007942 | Internal ophthalmoplegia |
| HP:0006659 | Internally rotated shoulders |
| HP:0030773 | Internuclear ophthalmoplegia |
| HP:0007181 | Interosseus muscle atrophy |
| HP:0001220 | Interphalangeal joint contracture of finger |
| HP:0006252 | Interphalangeal joint erosions |
| HP:0011611 | Interrupted aortic arch |
| HP:0011612 | Interrupted aortic arch type A |
| HP:0011613 | Interrupted aortic arch type B |
| HP:0011614 | Interrupted aortic arch type C |
| HP:0011671 | Interrupted inferior vena cava with azygous continuation |
| HP:0006515 | Interstitial pneumonitis |
| HP:0006530 | Interstitial pulmonary abnormality |
| HP:0008419 | Intervertebral disc degeneration |
| HP:0005645 | Intervertebral disk calcification |
| HP:0002945 | Intervertebral space narrowing |
| HP:0011100 | Intestinal atresia |
| HP:0002584 | Intestinal bleeding |
| HP:0100668 | Intestinal duplication |
| HP:0005225 | Intestinal edema |
| HP:0100819 | Intestinal fistula |
| HP:0005245 | Intestinal hypoplasia |
| HP:0002593 | Intestinal lymphangiectasia |
| HP:0004788 | Intestinal lymphedema |
| HP:0011956 | Intestinal lymphoid nodular hyperplasia |
| HP:0002566 | Intestinal malrotation |
| HP:0005214 | Intestinal obstruction |
| HP:0004389 | Intestinal pseudo-obstruction |
| HP:0005292 | Intimal thickening in the coronary arteries |
| HP:0001984 | Intolerance to protein |
| HP:0010284 | Intra-oral hyperpigmentation |
| HP:0006514 | Intraalveolar nodular calcifications |
| HP:0006916 | Intraaxonal accumulation of curvilinear autofluorescent lipopigment storage material |
| HP:0003204 | Intracellular accumulation of autofluorescent lipopigment storage material |
| HP:0007229 | Intracerebral periventricular calcifications |
| HP:0010576 | Intracranial cystic lesion |
| HP:0012097 | Intracranial dermoid cyst |
| HP:0012096 | Intracranial epidermoid cyst |
| HP:0002170 | Intracranial hemorrhage |
| HP:0012160 | Intracranial internal carotid artery dissection |
| HP:0030727 | Intracranial neurenteric cyst |
| HP:0002041 | Intractable diarrhea |
| HP:0005209 | Intrahepatic bile duct cysts |
| HP:0005248 | Intrahepatic biliary atresia |
| HP:0001401 | Intrahepatic biliary dysgenesis |
| HP:0001406 | Intrahepatic cholestasis |
| HP:0006575 | Intrahepatic cholestasis with episodic jaundice |
| HP:0012783 | Intralobar nephrogenic rest |
| HP:0010961 | Intralobar sequestration |
| HP:0025176 | Intralobular interstitial thickening |
| HP:0012233 | Intramuscular hematoma |
| HP:0030245 | Intrapartum fever |
| HP:0040223 | Intrapulmonary hemorrhage |
| HP:0011278 | Intrapulmonary sequestration |
| HP:0007989 | Intraretinal exudate |
| HP:0030623 | Intraretinal hyporeflective spaces on macular OCT |
| HP:0025038 | Intratesticular abscess |
| HP:0030753 | Intrauterine fetal demise of one twin after midgestation |
| HP:0001511 | Intrauterine growth retardation |
| HP:0012488 | Intraventricular arachnoid cyst |
| HP:0030746 | Intraventricular hemorrhage |
| HP:0008954 | Intrinsic hand muscle atrophy |
| HP:0002576 | Intussusception |
| HP:0003186 | Inverted nipples |
| HP:0004305 | Involuntary movements |
| HP:0012394 | Iodine contrast allergy |
| HP:0007451 | Ipsilateral lack of facial sweating |
| HP:0007889 | Iridescent posterior subcapsular cataract |
| HP:0007748 | Irido-fundal coloboma |
| HP:0001094 | Iridocyclitis |
| HP:0100693 | Iridodonesis |
| HP:0007744 | Iridoretinal coloboma |
| HP:0001089 | Iris atrophy |
| HP:0000612 | Iris coloboma |
| HP:0011523 | Iris cyst |
| HP:0012635 | Iris hypoperfusion |
| HP:0007730 | Iris hypopigmentation |
| HP:0011497 | Iris neovascularization |
| HP:0011525 | Iris nevus |
| HP:0012634 | Iris pigment dispersion |
| HP:0012805 | Iris transillumination defect |
| HP:0001101 | Iritis |
| HP:0012675 | Iron accumulation in brain |
| HP:0012677 | Iron accumulation in globus pallidus |
| HP:0012678 | Iron accumulation in substantia nigra |
| HP:0001891 | Iron deficiency anemia |
| HP:0008833 | Irregular acetabular roof |
| HP:0003945 | Irregular articular surfaces of the elbow joints |
| HP:0005041 | Irregular capital femoral epiphysis |
| HP:0004236 | Irregular carpal bones |
| HP:0030630 | Irregular central macular autofluorescence |
| HP:0006606 | Irregular chondrocostal junctions |
| HP:0040079 | Irregular dentition |
| HP:0006407 | Irregular distal femoral epiphysis |
| HP:0010582 | Irregular epiphyses |
| HP:0009493 | Irregular epiphyses of the 2nd finger |
| HP:0100049 | Irregular epiphyses of the 2nd toe |
| HP:0009415 | Irregular epiphyses of the 3rd finger |
| HP:0100060 | Irregular epiphyses of the 3rd toe |
| HP:0009398 | Irregular epiphyses of the 4th finger |
| HP:0100071 | Irregular epiphyses of the 4th toe |
| HP:0009387 | Irregular epiphyses of the 5th finger |
| HP:0100082 | Irregular epiphyses of the 5th toe |
| HP:0010251 | Irregular epiphyses of the distal phalanges of the hand |
| HP:0003948 | Irregular epiphyses of the elbow |
| HP:0010118 | Irregular epiphyses of the hallux |
| HP:0009190 | Irregular epiphyses of the metacarpals |
| HP:0010262 | Irregular epiphyses of the middle phalanges of the hand |
| HP:0010233 | Irregular epiphyses of the phalanges of the hand |
| HP:0010273 | Irregular epiphyses of the proximal phalanges of the hand |
| HP:0010167 | Irregular epiphyses of the toes |
| HP:0003842 | Irregular epiphyses of the upper limbs |
| HP:0010020 | Irregular epiphysis of the 1st metacarpal |
| HP:0010154 | Irregular epiphysis of the 1st metatarsal |
| HP:0009507 | Irregular epiphysis of the distal phalanx of the 2nd finger |
| HP:0100105 | Irregular epiphysis of the distal phalanx of the 2nd toe |
| HP:0009340 | Irregular epiphysis of the distal phalanx of the 3rd finger |
| HP:0100140 | Irregular epiphysis of the distal phalanx of the 3rd toe |
| HP:0009255 | Irregular epiphysis of the distal phalanx of the 4th finger |
| HP:0100174 | Irregular epiphysis of the distal phalanx of the 4th toe |
| HP:0009167 | Irregular epiphysis of the distal phalanx of the 5th finger |
| HP:0100207 | Irregular epiphysis of the distal phalanx of the 5th toe |
| HP:0010143 | Irregular epiphysis of the distal phalanx of the hallux |
| HP:0009680 | Irregular epiphysis of the distal phalanx of the thumb |
| HP:0009518 | Irregular epiphysis of the middle phalanx of the 2nd finger |
| HP:0100116 | Irregular epiphysis of the middle phalanx of the 2nd toe |
| HP:0009326 | Irregular epiphysis of the middle phalanx of the 3rd finger |
| HP:0100151 | Irregular epiphysis of the middle phalanx of the 3rd toe |
| HP:0009219 | Irregular epiphysis of the middle phalanx of the 4th finger |
| HP:0100185 | Irregular epiphysis of the middle phalanx of the 4th toe |
| HP:0009208 | Irregular epiphysis of the middle phalanx of the 5th finger |
| HP:0100218 | Irregular epiphysis of the middle phalanx of the 5th toe |
| HP:0009529 | Irregular epiphysis of the proximal phalanx of the 2nd finger |
| HP:0100127 | Irregular epiphysis of the proximal phalanx of the 2nd toe |
| HP:0009351 | Irregular epiphysis of the proximal phalanx of the 3rd finger |
| HP:0100162 | Irregular epiphysis of the proximal phalanx of the 3rd toe |
| HP:0009266 | Irregular epiphysis of the proximal phalanx of the 4th finger |
| HP:0100196 | Irregular epiphysis of the proximal phalanx of the 4th toe |
| HP:0009199 | Irregular epiphysis of the proximal phalanx of the 5th finger |
| HP:0100229 | Irregular epiphysis of the proximal phalanx of the 5th toe |
| HP:0010132 | Irregular epiphysis of the proximal phalanx of the hallux |
| HP:0009669 | Irregular epiphysis of the proximal phalanx of the thumb |
| HP:0006361 | Irregular femoral epiphysis |
| HP:0003896 | Irregular humeral epiphyses |
| HP:0007400 | Irregular hyperpigmentation |
| HP:0007521 | Irregular hyperpigmentation of back |
| HP:0003796 | Irregular iliac crest |
| HP:0006160 | Irregular metacarpals |
| HP:0007208 | Irregular myelin loops |
| HP:0004034 | Irregular olecranon |
| HP:0006598 | Irregular ossification at anterior rib ends |
| HP:0004280 | Irregular ossification of hand bones |
| HP:0003914 | Irregular ossification of humeral metaphyses |
| HP:0003897 | Irregular ossification of the humeral epiphyses |
| HP:0004020 | Irregular ossification of the radial metaphysis |
| HP:0006369 | Irregular patellae |
| HP:0006205 | Irregular phalanges |
| HP:0006456 | Irregular proximal tibial epiphyses |
| HP:0004004 | Irregular radial epiphyses |
| HP:0012195 | Irregular respiration |
| HP:0004281 | Irregular sclerosis of hand bones |
| HP:0008476 | Irregular sclerotic endplates |
| HP:0025174 | Irregular septal thickening |
| HP:0004688 | Irregular tarsal bones |
| HP:0008134 | Irregular tarsal ossification |
| HP:0009691 | Irregular thumb epiphysis |
| HP:0003301 | Irregular vertebral endplates |
| HP:0005042 | Irregular, rachitic-like metaphyses |
| HP:0004582 | Irregularity of vertebral bodies |
| HP:0006316 | Irregularly spaced teeth |
| HP:0000737 | Irritability |
| HP:0002140 | Ischemic stroke |
| HP:0030185 | Isometric tremor |
| HP:0008236 | Isosexual precocious puberty |
| HP:0030036 | Isothenuria |
| HP:0010583 | Ivory epiphyses |
| HP:0009494 | Ivory epiphyses of the 2nd finger |
| HP:0100050 | Ivory epiphyses of the 2nd toe |
| HP:0009416 | Ivory epiphyses of the 3rd finger |
| HP:0100061 | Ivory epiphyses of the 3rd toe |
| HP:0009399 | Ivory epiphyses of the 4th finger |
| HP:0100072 | Ivory epiphyses of the 4th toe |
| HP:0009388 | Ivory epiphyses of the 5th finger |
| HP:0100083 | Ivory epiphyses of the 5th toe |
| HP:0010252 | Ivory epiphyses of the distal phalanges of the hand |
| HP:0010119 | Ivory epiphyses of the hallux |
| HP:0009191 | Ivory epiphyses of the metacarpals |
| HP:0010263 | Ivory epiphyses of the middle phalanges of the hand |
| HP:0010234 | Ivory epiphyses of the phalanges of the hand |
| HP:0010274 | Ivory epiphyses of the proximal phalanges of the hand |
| HP:0010168 | Ivory epiphyses of the toes |
| HP:0010021 | Ivory epiphysis of the 1st metacarpal |
| HP:0010155 | Ivory epiphysis of the 1st metatarsal |
| HP:0009508 | Ivory epiphysis of the distal phalanx of the 2nd finger |
| HP:0100106 | Ivory epiphysis of the distal phalanx of the 2nd toe |
| HP:0009341 | Ivory epiphysis of the distal phalanx of the 3rd finger |
| HP:0100141 | Ivory epiphysis of the distal phalanx of the 3rd toe |
| HP:0009256 | Ivory epiphysis of the distal phalanx of the 4th finger |
| HP:0100175 | Ivory epiphysis of the distal phalanx of the 4th toe |
| HP:0004223 | Ivory epiphysis of the distal phalanx of the 5th finger |
| HP:0100208 | Ivory epiphysis of the distal phalanx of the 5th toe |
| HP:0010144 | Ivory epiphysis of the distal phalanx of the hallux |
| HP:0009681 | Ivory epiphysis of the distal phalanx of the thumb |
| HP:0009519 | Ivory epiphysis of the middle phalanx of the 2nd finger |
| HP:0100117 | Ivory epiphysis of the middle phalanx of the 2nd toe |
| HP:0009327 | Ivory epiphysis of the middle phalanx of the 3rd finger |
| HP:0100152 | Ivory epiphysis of the middle phalanx of the 3rd toe |
| HP:0009220 | Ivory epiphysis of the middle phalanx of the 4th finger |
| HP:0100186 | Ivory epiphysis of the middle phalanx of the 4th toe |
| HP:0009209 | Ivory epiphysis of the middle phalanx of the 5th finger |
| HP:0100219 | Ivory epiphysis of the middle phalanx of the 5th toe |
| HP:0009530 | Ivory epiphysis of the proximal phalanx of the 2nd finger |
| HP:0100128 | Ivory epiphysis of the proximal phalanx of the 2nd toe |
| HP:0009352 | Ivory epiphysis of the proximal phalanx of the 3rd finger |
| HP:0100163 | Ivory epiphysis of the proximal phalanx of the 3rd toe |
| HP:0009267 | Ivory epiphysis of the proximal phalanx of the 4th finger |
| HP:0100197 | Ivory epiphysis of the proximal phalanx of the 4th toe |
| HP:0009157 | Ivory epiphysis of the proximal phalanx of the 5th finger |
| HP:0100230 | Ivory epiphysis of the proximal phalanx of the 5th toe |
| HP:0010133 | Ivory epiphysis of the proximal phalanx of the hallux |
| HP:0009670 | Ivory epiphysis of the proximal phalanx of the thumb |
| HP:0009692 | Ivory epiphysis of the thumb |
| HP:0012272 | J wave |
| HP:0002680 | J-shaped sella turcica |
| HP:0012006 | Jamais vu |
| HP:0000952 | Jaundice |
| HP:0040263 | Jaw ankylosis |
| HP:0030164 | Jaw claudication |
| HP:0012392 | Jaw hyporeflexia |
| HP:0040264 | Jaw pain |
| HP:0030793 | Jaw swelling |
| HP:0005235 | Jejunal atresia |
| HP:0004786 | Jejunal diverticula |
| HP:0004799 | Jejunoileal diverticula |
| HP:0005229 | Jejunoileal ulceration |
| HP:0001351 | Jerk-locked premyoclonus spikes |
| HP:0006961 | Jerky head movements |
| HP:0008003 | Jerky ocular pursuit movements |
| HP:0009319 | Joint contracture of the 3rd finger |
| HP:0009274 | Joint contracture of the 4th finger |
| HP:0009183 | Joint contracture of the 5th finger |
| HP:0009473 | Joint contracture of the hand |
| HP:0100492 | Joint contractures involving the joints of the feet |
| HP:0001373 | Joint dislocation |
| HP:0005261 | Joint hemorrhage |
| HP:0005692 | Joint hyperflexibility |
| HP:0001382 | Joint hypermobility |
| HP:0001388 | Joint laxity |
| HP:0001387 | Joint stiffness |
| HP:0001386 | Joint swelling |
| HP:0005833 | Joint swelling onset late infancy |
| HP:0011716 | Junctional ectopic tachycardia |
| HP:0003341 | Junctional split |
| HP:0100323 | Juvenile aseptic necrosis |
| HP:0001118 | Juvenile cataract |
| HP:0007876 | Juvenile cortical cataract |
| HP:0007755 | Juvenile epithelial corneal dystrophy |
| HP:0007935 | Juvenile posterior subcapsular lenticular opacities |
| HP:0005681 | Juvenile rheumatoid arthritis |
| HP:0007713 | Juvenile zonular cataracts |
| HP:0011646 | Juxtaductal coarctation of the aorta |
| HP:0200032 | Kayser-Fleischer ring |
| HP:0010562 | Keloids |
| HP:0012069 | Keratan sulfate excretion in urine |
| HP:0000491 | Keratitis |
| HP:0001096 | Keratoconjunctivitis |
| HP:0001097 | Keratoconjunctivitis sicca |
| HP:0000563 | Keratoconus |
| HP:0001119 | Keratoglobus |
| HP:0001343 | Kernicterus |
| HP:0001993 | Ketoacidosis |
| HP:0002919 | Ketonuria |
| HP:0001946 | Ketosis |
| HP:0012734 | Ketotic hypoglycemia |
| HP:0030186 | Kinetic tremor |
| HP:0012793 | Kinked brainstem |
| HP:0011449 | Knee clonus |
| HP:0004976 | Knee dislocation |
| HP:0006380 | Knee flexion contracture |
| HP:0005086 | Knee osteoarthritis |
| HP:0030839 | Knee pain |
| HP:0002751 | Kyphoscoliosis |
| HP:0002808 | Kyphosis |
| HP:0040147 | L-2-hydroxyglutaric acidemia |
| HP:0040144 | L-2-hydroxyglutaric aciduria |
| HP:0011544 | L-looping of the right ventricle |
| HP:0000065 | Labial hypertrophy |
| HP:0000066 | Labial hypoplasia |
| HP:0008739 | Labial pseudohypertrophy |
| HP:0030145 | Lack of bowel sounds |
| HP:0005320 | Lack of facial subcutaneous fat |
| HP:0000757 | Lack of insight |
| HP:0002332 | Lack of peer relationships |
| HP:0100679 | Lack of skin elasticity |
| HP:0000721 | Lack of spontaneous play |
| HP:0007519 | Lack of subcutaneous fatty tissue |
| HP:0007925 | Lacrimal duct aplasia |
| HP:0000564 | Lacrimal duct atresia |
| HP:0007678 | Lacrimal duct stenosis |
| HP:0007656 | Lacrimal gland aplasia |
| HP:0007732 | Lacrimal gland hypoplasia |
| HP:0000632 | Lacrimation abnormality |
| HP:0045041 | Lactate dehydrogenase B deficiency |
| HP:0003128 | Lactic acidosis |
| HP:0003648 | Lacticaciduria |
| HP:0004789 | Lactose intolerance |
| HP:0100318 | Lafora bodies |
| HP:0030001 | Lagopthalmos |
| HP:0004443 | Lambdoidal craniosynostosis |
| HP:0007971 | Lamellar cataract |
| HP:0010694 | Lamellar pulverulent cataract |
| HP:0002463 | Language impairment |
| HP:0012455 | Large artery calcification |
| HP:0007048 | Large basal ganglia |
| HP:0003683 | Large beaked nose |
| HP:0005605 | Large cafe-au-lait macules with irregular margins |
| HP:0004263 | Large capitate bone |
| HP:0004237 | Large carpal bones |
| HP:0001129 | Large central visual field defect |
| HP:0004527 | Large clumps of pigment irregularly distributed along hair shaft |
| HP:0009748 | Large earlobe |
| HP:0030865 | Large elbow |
| HP:0001090 | Large eyes |
| HP:0100729 | Large face |
| HP:0002265 | Large fleshy ears |
| HP:0000239 | Large fontanelles |
| HP:0001520 | Large for gestational age |
| HP:0002700 | Large foramen magnum |
| HP:0002003 | Large forehead |
| HP:0004260 | Large hamate bone |
| HP:0001176 | Large hands |
| HP:0003898 | Large humeral epiphyses |
| HP:0007658 | Large hyperpigmented retinal spots |
| HP:0008818 | Large iliac wings |
| HP:0005008 | Large joint dislocations |
| HP:0030866 | Large knee |
| HP:0010779 | Large pelvis bone |
| HP:0006267 | Large placenta |
| HP:0004491 | Large posterior fontanelle |
| HP:0004005 | Large radial epiphyses |
| HP:0002690 | Large sella turcica |
| HP:0006642 | Large sternal ossification centers |
| HP:0004679 | Large tarsal bones |
| HP:0005310 | Large vessel vasculitis |
| HP:0008750 | Laryngeal atresia |
| HP:0008754 | Laryngeal calcification |
| HP:0008752 | Laryngeal cartilage malformation |
| HP:0008751 | Laryngeal cleft |
| HP:0100640 | Laryngeal cyst |
| HP:0012049 | Laryngeal dystonia |
| HP:0012027 | Laryngeal edema |
| HP:0008749 | Laryngeal hypoplasia |
| HP:0005945 | Laryngeal obstruction |
| HP:0001602 | Laryngeal stenosis |
| HP:0006511 | Laryngeal stridor |
| HP:0005950 | Laryngeal web |
| HP:0001601 | Laryngomalacia |
| HP:0004894 | Laryngotracheal stenosis |
| HP:0008755 | Laryngotracheomalacia |
| HP:0007573 | Late onset atopic dermatitis |
| HP:0008041 | Late onset congenital glaucoma |
| HP:0003810 | Late-onset distal muscle weakness |
| HP:0007081 | Late-onset muscular dystrophy |
| HP:0003694 | Late-onset proximal muscle weakness |
| HP:0006904 | Late-onset spinocerebellar degeneration |
| HP:0000895 | Lateral clavicle hook |
| HP:0006397 | Lateral displacement of patellae |
| HP:0006453 | Lateral displacement of the femoral head |
| HP:0005090 | Lateral femoral bowing |
| HP:0006441 | Lateral humeral condyle aplasia |
| HP:0100885 | Lateral venous anomaly |
| HP:0007733 | Laterally curved eyebrow |
| HP:0003833 | Laterally deficient tibial plateaux |
| HP:0011230 | Laterally extended eyebrow |
| HP:0003921 | Laterally sloping humeral metaphysis |
| HP:0001149 | Lattice corneal dystrophy |
| HP:0007992 | Lattice retinal degeneration |
| HP:0025320 | Leakage of dye on fundus fluorescein angiography |
| HP:0001112 | Leber optic atrophy |
| HP:0011711 | Left anterior fascicular block |
| HP:0011591 | Left aortic arch with cervical origin of the right subclavian artery |
| HP:0011592 | Left aortic arch with isolated subclavian artery |
| HP:0011593 | Left aortic arch with retroesophageal diverticulum of Kommerell |
| HP:0011595 | Left aortic arch with retroesophageal right subclavian artery |
| HP:0011596 | Left aortic arch with right descending aorta and right ductus arteriosus |
| HP:0011537 | Left atrial isomerism |
| HP:0011713 | Left bundle branch block |
| HP:0005172 | Left posterior fascicular block |
| HP:0011669 | Left superior vena cava draining directly to the left atrium |
| HP:0011670 | Left superior vena cava draining to coronary sinus |
| HP:0011316 | Left unicoronal synostosis |
| HP:0011321 | Left unilambdoid synostosis |
| HP:0025168 | Left ventricular diastolic dysfunction |
| HP:0005162 | Left ventricular failure |
| HP:0001712 | Left ventricular hypertrophy |
| HP:0030682 | Left ventricular noncompaction |
| HP:0011664 | Left ventricular noncompaction cardiomyopathy |
| HP:0005144 | Left ventricular septal hypertrophy |
| HP:0025169 | Left ventricular systolic dysfunction |
| HP:0012382 | Left-to-right shunt |
| HP:0008969 | Leg muscle stiffness |
| HP:0100719 | Lens coloboma |
| HP:0012019 | Lens luxation |
| HP:0001132 | Lens subluxation |
| HP:0001142 | Lenticonus |
| HP:0011527 | Lentiglobus |
| HP:0009781 | Lester's sign |
| HP:0009069 | Lethal infantile mitochondrial myopathy |
| HP:0008909 | Lethal short-limbed short stature |
| HP:0011404 | Lethal short-trunk short stature |
| HP:0005716 | Lethal skeletal dysplasia |
| HP:0001254 | Lethargy |
| HP:0000555 | Leukocoria |
| HP:0012616 | Leukocyte cylindruria |
| HP:0040235 | Leukocyte inclusion bodies |
| HP:0001974 | Leukocytosis |
| HP:0002415 | Leukodystrophy |
| HP:0002352 | Leukoencephalopathy |
| HP:0001820 | Leukonychia |
| HP:0001882 | Leukopenia |
| HP:0012241 | Levator palpebrae superioris atrophy |
| HP:0100315 | Lewy bodies |
| HP:0002929 | Leydig cell insensitivity to gonadotropin |
| HP:0011714 | Libman-Sacks lesions |
| HP:0100725 | Lichenification |
| HP:0030217 | Limb apraxia |
| HP:0002070 | Limb ataxia |
| HP:0100524 | Limb duplication |
| HP:0002406 | Limb dysmetria |
| HP:0002451 | Limb dystonia |
| HP:0007289 | Limb fasciculations |
| HP:0002509 | Limb hypertonia |
| HP:0003121 | Limb joint contracture |
| HP:0003690 | Limb muscle weakness |
| HP:0045084 | Limb myoclonus |
| HP:0009763 | Limb pain |
| HP:0200085 | Limb tremor |
| HP:0009826 | Limb undergrowth |
| HP:0003797 | Limb-girdle muscle atrophy |
| HP:0003325 | Limb-girdle muscle weakness |
| HP:0006785 | Limb-girdle muscular dystrophy |
| HP:0025349 | Limbal edema |
| HP:0001376 | Limitation of joint mobility |
| HP:0010501 | Limitation of knee mobility |
| HP:0010505 | Limitation of movement at ankles |
| HP:0005986 | Limitation of neck motion |
| HP:0001377 | Limited elbow extension |
| HP:0005852 | Limited elbow extension and supination |
| HP:0006376 | Limited elbow flexion |
| HP:0005060 | Limited elbow flexion/extension |
| HP:0002996 | Limited elbow movement |
| HP:0007941 | Limited extraocular movements |
| HP:0003093 | Limited hip extension |
| HP:0008800 | Limited hip movement |
| HP:0006064 | Limited interphalangeal movement |
| HP:0003066 | Limited knee extension |
| HP:0006389 | Limited knee flexion |
| HP:0005085 | Limited knee flexion/extension |
| HP:0006217 | Limited mobility of proximal interphalangeal joint |
| HP:0005991 | Limited neck flexion |
| HP:0000466 | Limited neck range of motion |
| HP:0006394 | Limited pronation/supination of forearm |
| HP:0006467 | Limited shoulder movement |
| HP:0006251 | Limited wrist extension |
| HP:0006248 | Limited wrist movement |
| HP:0007490 | Linear arrays of macular hyperkeratoses in flexural areas |
| HP:0007546 | Linear hyperpigmentation |
| HP:0010817 | Linear nevus sebaceous |
| HP:0100029 | Lingual thyroid |
| HP:0025118 | Lip discoloration |
| HP:0010798 | Lip freckle |
| HP:0100816 | Lip hyperpigmentation |
| HP:0100267 | Lip pit |
| HP:0000214 | Lip telangiectasia |
| HP:0100695 | Lipedema |
| HP:0000660 | Lipemia retinalis |
| HP:0006561 | Lipid accumulation in hepatocytes |
| HP:0100578 | Lipoatrophy |
| HP:0009125 | Lipodystrophy |
| HP:0040139 | Lipogranulomatosis |
| HP:0030710 | Lipomeningocele |
| HP:0001339 | Lissencephaly |
| HP:0100523 | Liver abscess |
| HP:0030908 | Liver kidney microsome type 1 antibody positivity |
| HP:0006870 | Lobar holoprosencephaly |
| HP:0008636 | Lobular glomerulopathy |
| HP:0000180 | Lobulated tongue |
| HP:0025182 | Localized area of pendulous skin |
| HP:0007559 | Localized epidermolytic hyperkeratosis |
| HP:0009889 | Localized hirsutism |
| HP:0011074 | Localized hypoplasia of dental enamel |
| HP:0040161 | Localized osteoporosis |
| HP:0011059 | Localized periodontitis |
| HP:0011355 | Localized skin lesion |
| HP:0100950 | Long chain 3 hydroxyacyl coA dehydrogenase deficiency |
| HP:0000890 | Long clavicles |
| HP:0002831 | Long coccyx |
| HP:0012299 | Long distal phalanx of finger |
| HP:0400004 | Long ear |
| HP:0004523 | Long eyebrows |
| HP:0000527 | Long eyelashes |
| HP:0007740 | Long eyelashes in irregular rows |
| HP:0000276 | Long face |
| HP:0003085 | Long fibula |
| HP:0100807 | Long fingers |
| HP:0001833 | Long foot |
| HP:0008528 | Long hairs growing from helix of pinna |
| HP:0001847 | Long hallux |
| HP:0040053 | Long lower eyelashes |
| HP:0010493 | Long metacarpals |
| HP:0012298 | Long middle phalanx of finger |
| HP:0000472 | Long neck |
| HP:0003189 | Long nose |
| HP:0011302 | Long palm |
| HP:0000637 | Long palpebral fissure |
| HP:0000040 | Long penis |
| HP:0006155 | Long phalanx of finger |
| HP:0000343 | Long philtrum |
| HP:0006127 | Long proximal phalanx of finger |
| HP:0006040 | Long second metacarpal |
| HP:0004036 | Long styloid process of ulna |
| HP:0100818 | Long thorax |
| HP:0010511 | Long toe |
| HP:0003988 | Long ulna |
| HP:0011417 | Long umbilical cord |
| HP:0007840 | Long upper eyelashes |
| HP:0011341 | Long upper lip |
| HP:0010810 | Long uvula |
| HP:0008293 | Long-chain dicarboxylic aciduria |
| HP:0011285 | Long-segment aganglionic megacolon |
| HP:0002423 | Long-tract signs |
| HP:0008740 | Longitudinal vaginal septum |
| HP:0040169 | Loose anagen hair |
| HP:0000394 | Lop ear |
| HP:0006957 | Loss of ability to walk |
| HP:0008945 | Loss of ability to walk in early childhood |
| HP:0006794 | Loss of ability to walk in first decade |
| HP:0007185 | Loss of consciousness |
| HP:0011457 | Loss of eyelashes |
| HP:0000292 | Loss of facial adipose tissue |
| HP:0005327 | Loss of facial expression |
| HP:0009017 | Loss of gluteal subcutaneous adipose tissue |
| HP:0007001 | Loss of Purkinje cells in the cerebellar vermis |
| HP:0002371 | Loss of speech |
| HP:0009056 | Loss of subcutaneous adipose tissue from upper limbs |
| HP:0003635 | Loss of subcutaneous adipose tissue in limbs |
| HP:0009002 | Loss of truncal subcutaneous adipose tissue |
| HP:0001686 | Loss of voice |
| HP:0030918 | Low 1-minute APGAR score |
| HP:0030919 | Low 5-minute APGAR score |
| HP:0003282 | Low alkaline phosphatase |
| HP:0010684 | Low alkaline phosphatase of bone origin |
| HP:0010686 | Low alkaline phosphatase of hepatic origin |
| HP:0010685 | Low alkaline phosphatase of renal origin |
| HP:0000294 | Low anterior hairline |
| HP:0030917 | Low APGAR score |
| HP:0003419 | Low back pain |
| HP:0003349 | Low cholesterol esterification rates |
| HP:0012446 | Low CSF 5-methyltetrahydrofolate |
| HP:0000744 | Low frustration tolerance |
| HP:0009765 | Low hanging columella |
| HP:0010763 | Low insertion of columella |
| HP:0010687 | Low intestinal alkaline phosphatase |
| HP:0010570 | Low maternal serum alpha-fetoprotein |
| HP:0011434 | Low maternal serum chorionic gonadotropin |
| HP:0008073 | Low maternal serum estriol |
| HP:0011435 | Low maternal serum PAPP-A |
| HP:0010688 | Low placental alkaline phosphatase |
| HP:0003572 | Low plasma citrulline |
| HP:0002162 | Low posterior hairline |
| HP:0030851 | Low pulse pressure |
| HP:0012053 | Low serum calcifediol |
| HP:0012052 | Low serum calcitriol |
| HP:0010683 | Low tissue non-specific alkaline phosphatase |
| HP:0003456 | Low urinary cyclic AMP response to PTH administration |
| HP:0011181 | Low voltage EEG |
| HP:0008542 | Low-frequency hearing loss |
| HP:0008573 | Low-frequency sensorineural hearing impairment |
| HP:0011134 | Low-grade fever |
| HP:0003126 | Low-molecular-weight proteinuria |
| HP:0009805 | Low-output congestive heart failure |
| HP:0000369 | Low-set ears |
| HP:0002562 | Low-set nipples |
| HP:0000368 | Low-set, posteriorly rotated ears |
| HP:0002632 | Low-to-normal blood pressure |
| HP:0030311 | Lower extremity joint dislocation |
| HP:0000652 | Lower eyelid coloboma |
| HP:0012568 | Lower eyelid edema |
| HP:0030802 | Lower eyelid retraction |
| HP:0007210 | Lower limb amyotrophy |
| HP:0100559 | Lower limb asymmetry |
| HP:0002395 | Lower limb hyperreflexia |
| HP:0006895 | Lower limb hypertonia |
| HP:0007340 | Lower limb muscle weakness |
| HP:0012514 | Lower limb pain |
| HP:0009820 | Lower limb peromelia |
| HP:0009819 | Lower limb phocomelia |
| HP:0002061 | Lower limb spasticity |
| HP:0009816 | Lower limb undergrowth |
| HP:0000196 | Lower lip pit |
| HP:0008470 | Lower thoracic interpediculate narrowness |
| HP:0004633 | Lower thoracic kyphosis |
| HP:0030291 | Lower-limb metaphyseal irregularity |
| HP:0008439 | Lumbar hemivertebrae |
| HP:0002938 | Lumbar hyperlordosis |
| HP:0011913 | Lumbar hypertrichosis |
| HP:0008486 | Lumbar interpedicular narrowing |
| HP:0004619 | Lumbar kyphoscoliosis |
| HP:0008454 | Lumbar kyphosis |
| HP:0008414 | Lumbar kyphosis in infancy |
| HP:0005787 | Lumbar platyspondyly |
| HP:0004626 | Lumbar scoliosis |
| HP:0004610 | Lumbar spinal canal stenosis |
| HP:0009747 | Lumbosacral hirsutism |
| HP:0200133 | Lumbosacral meningocele |
| HP:0004251 | Lunate-triquetral fusion |
| HP:0025044 | Lung abscess |
| HP:0025343 | Lupus anticoagulant |
| HP:0002732 | Lymph node hypoplasia |
| HP:0002840 | Lymphadenitis |
| HP:0002716 | Lymphadenopathy |
| HP:0001004 | Lymphedema |
| HP:0100827 | Lymphocytosis |
| HP:0006527 | Lymphoid interstitial pneumonia |
| HP:0001888 | Lymphopenia |
| HP:0003851 | Lytic defects in metaphyses of the upper limbs |
| HP:0004238 | Lytic defects of carpal bones |
| HP:0003930 | Lytic defects of humeral diaphysis |
| HP:0004029 | Lytic defects of radial diaphysis |
| HP:0004021 | Lytic defects of radial metaphysis |
| HP:0003963 | Lytic defects of the forearm bones |
| HP:0003915 | Lytic defects of the humeral metaphysis |
| HP:0003979 | Lytic defects of the radius |
| HP:0004043 | Lytic defects of ulnar metaphysis |
| HP:0000256 | Macrocephaly |
| HP:0004488 | Macrocephaly at birth |
| HP:0001972 | Macrocytic anemia |
| HP:0005532 | Macrocytic dyserythropoietic anemia |
| HP:0005524 | Macrocytic hemolytic disease |
| HP:0004099 | Macrodactyly |
| HP:0100746 | Macrodactyly of finger |
| HP:0100747 | Macrodactyly of toe |
| HP:0001572 | Macrodontia |
| HP:0000675 | Macrodontia of permanent maxillary central incisor |
| HP:0000158 | Macroglossia |
| HP:0007227 | Macrogyria |
| HP:0008231 | Macronodular adrenal hyperplasia |
| HP:0006577 | Macronodular cirrhosis |
| HP:0000053 | Macroorchidism |
| HP:0002050 | Macroorchidism, postpubertal |
| HP:0012587 | Macroscopic hematuria |
| HP:0040185 | Macrothrombocytopenia |
| HP:0000400 | Macrotia |
| HP:0001403 | Macrovesicular hepatic steatosis |
| HP:0007401 | Macular atrophy |
| HP:0001116 | Macular coloboma |
| HP:0030497 | Macular cotton wool spots |
| HP:0030501 | Macular crystals |
| HP:0000608 | Macular degeneration |
| HP:0030499 | Macular drusen |
| HP:0007754 | Macular dystrophy |
| HP:0040049 | Macular edema |
| HP:0030496 | Macular exudation |
| HP:0011507 | Macular flecks |
| HP:0011508 | Macular hole |
| HP:0011509 | Macular hyperpigmentation |
| HP:0007412 | Macular hyperpigmented dermopathy |
| HP:0007988 | Macular hypopigmentation |
| HP:0005593 | Macular hypopigmented whorls, streaks, and patches |
| HP:0001104 | Macular hypoplasia |
| HP:0030494 | Macular microaneurysm/hemorrhage |
| HP:0200056 | Macular scar |
| HP:0011511 | Macular schisis |
| HP:0030503 | Macular telangiectasia |
| HP:0030498 | Macular thickening |
| HP:0012733 | Macule |
| HP:0040186 | Maculopapular exanthema |
| HP:0003067 | Madelung deformity |
| HP:0003068 | Madelung-like forearm deformities |
| HP:0002024 | Malabsorption |
| HP:0200118 | Malabsorption of Vitamin B12 |
| HP:0006092 | Malaligned carpal bone |
| HP:0011827 | Malaligned philtral ridges |
| HP:0000272 | Malar flattening |
| HP:0010620 | Malar prominence |
| HP:0025300 | Malar rash |
| HP:0005829 | Maldevelopment of radioulnar joint |
| HP:0000026 | Male hypogonadism |
| HP:0003251 | Male infertility |
| HP:0000037 | Male pseudohermaphroditism |
| HP:0006338 | Malformation of mandibular premolar |
| HP:0006563 | Malformation of the hepatic ductal plate |
| HP:0007993 | Malformed lacrimal ducts |
| HP:0002047 | Malignant hyperthermia |
| HP:0030771 | Mallet finger |
| HP:0004395 | Malnutrition |
| HP:0100802 | Malposition of the stomach |
| HP:0004785 | Malrotation of colon |
| HP:0004794 | Malrotation of small bowel |
| HP:0009939 | Mandibular aplasia |
| HP:0007627 | Mandibular condyle aplasia |
| HP:0007628 | Mandibular condyle hypoplasia |
| HP:0004472 | Mandibular hyperostosis |
| HP:0007626 | Mandibular osteomyelitis |
| HP:0200025 | Mandibular pain |
| HP:0000303 | Mandibular prognathia |
| HP:0005321 | Mandibulofacial dysostosis |
| HP:0100754 | Mania |
| HP:0007690 | Map-dot-fingerprint corneal dystrophy |
| HP:0025186 | Marcus Gunn jaw winking synkinesis |
| HP:0200057 | Marcus Gunn pupil |
| HP:0007880 | Marginal corneal dystrophy |
| HP:0030658 | Marginal umbilical cord insertion |
| HP:0003799 | Marked delay in bone age |
| HP:0006291 | Marked delay in eruption of permanent teeth |
| HP:0009042 | Marked muscular hypertrophy |
| HP:0005409 | Markedly reduced T cell function |
| HP:0000298 | Mask-like facies |
| HP:0005665 | Massively thickened long bone cortices |
| HP:0100495 | Mastocytosis |
| HP:0000265 | Mastoiditis |
| HP:0012536 | Maternal anticardiolipin antibody positive |
| HP:0011437 | Maternal autoimmune disease |
| HP:0009800 | Maternal diabetes |
| HP:0030244 | Maternal fever in pregnancy |
| HP:0030246 | Maternal first trimester fever |
| HP:0100610 | Maternal hyperphenylalaninemia |
| HP:0008071 | Maternal hypertension |
| HP:0100622 | Maternal seizures |
| HP:0011438 | Maternal teratogenic exposure |
| HP:0040222 | Maternal thrombophilia |
| HP:0008072 | Maternal virilization in pregnancy |
| HP:0004904 | Maturity-onset diabetes of the young |
| HP:0001593 | Maxillary lateral incisor microdontia |
| HP:0005439 | Maxillozygomatic hypoplasia |
| HP:0010676 | Mechanical ileus |
| HP:0002245 | Meckel diverticulum |
| HP:0004401 | Meconium ileus |
| HP:0030717 | Meconium peritonitis |
| HP:0012420 | Meconium stained amniotic fluid |
| HP:0012456 | Medial arterial calcification |
| HP:0004966 | Medial calcification of large arteries |
| HP:0012457 | Medial calcification of medium-sized arteries |
| HP:0012458 | Medial calcification of small arteries |
| HP:0008082 | Medial deviation of the foot |
| HP:0010747 | Medial flaring of the eyebrow |
| HP:0008132 | Medial rotation of the medial malleolus |
| HP:0006599 | Medial widening of clavicles |
| HP:0004001 | Medially deficient radial epiphyses |
| HP:0008096 | Medially deviated second toe |
| HP:0004003 | Medially flattened radial epiphyses |
| HP:0004013 | Medially fused radial epiphyseal plates |
| HP:0004009 | Medially sloping radial epiphyses |
| HP:0004024 | Medially sloping radial metaphysis |
| HP:0000161 | Median cleft lip |
| HP:0008501 | Median cleft lip and palate |
| HP:0009099 | Median cleft palate |
| HP:0100721 | Mediastinal lymphadenopathy |
| HP:0007581 | Mediosternal, longitudinal streak of hypopigmentation |
| HP:0008309 | Medium chain dicarboxylic aciduria |
| HP:0012408 | Medullary nephrocalcinosis |
| HP:0000021 | Megacystis |
| HP:0005548 | Megakaryocytopenia |
| HP:0001355 | Megalencephaly |
| HP:0001889 | Megaloblastic anemia |
| HP:0001980 | Megaloblastic bone marrow |
| HP:0200143 | Megaloblastic erythroid hyperplasia |
| HP:0000485 | Megalocornea |
| HP:0025024 | Megarectum |
| HP:0002220 | Melanin pigment aggregation in hair shafts |
| HP:0000995 | Melanocytic nevus |
| HP:0100644 | Melanonychia |
| HP:0025272 | Melasma |
| HP:0002249 | Melena |
| HP:0000793 | Membranoproliferative glomerulonephritis |
| HP:0010922 | Membranous cataract |
| HP:0011820 | Membranous choanal atresia |
| HP:0012578 | Membranous nephropathy |
| HP:0005174 | Membranous subvalvular aortic stenosis |
| HP:0002354 | Memory impairment |
| HP:0100250 | Meningeal calcification |
| HP:0001287 | Meningitis |
| HP:0002435 | Meningocele |
| HP:0006888 | Meningoencephalocele |
| HP:0400008 | Menometrorrhagia |
| HP:0000132 | Menorrhagia |
| HP:0000858 | Menstrual irregularities |
| HP:0001268 | Mental deterioration |
| HP:0030728 | Meromelia |
| HP:0001966 | Mesangial abnormality |
| HP:0012574 | Mesangial hypercellularity |
| HP:0030762 | Mesangiolysis |
| HP:0011934 | Mesenteric artery aneurysm |
| HP:0030451 | Mesenteric cyst |
| HP:0030248 | Mesenteric venous thrombosis |
| HP:0011067 | Mesiodens |
| HP:0010112 | Mesoaxial foot polydactyly |
| HP:0006159 | Mesoaxial hand polydactyly |
| HP:0100260 | Mesoaxial polydactyly |
| HP:0011599 | Mesocardia |
| HP:0003027 | Mesomelia |
| HP:0005011 | Mesomelic arm shortening |
| HP:0004987 | Mesomelic leg shortening |
| HP:0008845 | Mesomelic short stature |
| HP:0005026 | Mesomelic/rhizomelic limb shortening |
| HP:0001942 | Metabolic acidosis |
| HP:0200114 | Metabolic alkalosis |
| HP:0005979 | Metabolic ketoacidosis |
| HP:0006174 | Metacarpal diaphyseal endosteal sclerosis |
| HP:0001504 | Metacarpal osteolysis |
| HP:0006051 | Metacarpal periosteal thickening |
| HP:0009701 | Metacarpal synostosis |
| HP:0006070 | Metacarpophalangeal joint contracture |
| HP:0006099 | Metacarpophalangeal joint hyperextensibility |
| HP:0005880 | Metacarpophalangeal synostosis |
| HP:0006926 | Metachromatic leukodystrophy variant |
| HP:0012508 | Metamorphopsia |
| HP:0005871 | Metaphyseal chondrodysplasia |
| HP:0030295 | Metaphyseal chondromatosis of femur |
| HP:0030298 | Metaphyseal chondromatosis of humerus |
| HP:0030296 | Metaphyseal chondromatosis of radius |
| HP:0030294 | Metaphyseal chondromatosis of tibia |
| HP:0030297 | Metaphyseal chondromatosis of ulna |
| HP:0003021 | Metaphyseal cupping |
| HP:0006028 | Metaphyseal cupping of metacarpals |
| HP:0006208 | Metaphyseal cupping of proximal phalanges |
| HP:0011860 | Metaphyseal dappling |
| HP:0005899 | Metaphyseal dysostosis |
| HP:0100255 | Metaphyseal dysplasia |
| HP:0005868 | Metaphyseal enchondromatosis |
| HP:0003025 | Metaphyseal irregularity |
| HP:0004980 | Metaphyseal rarefaction |
| HP:0004979 | Metaphyseal sclerosis |
| HP:0005054 | Metaphyseal spurs |
| HP:0003016 | Metaphyseal widening |
| HP:0008114 | Metatarsal diaphyseal endosteal sclerosis |
| HP:0001473 | Metatarsal osteolysis |
| HP:0008074 | Metatarsal periosteal thickening |
| HP:0001440 | Metatarsal synostosis |
| HP:0001840 | Metatarsus adductus |
| HP:0010508 | Metatarsus valgus |
| HP:0012119 | Methemoglobinemia |
| HP:0002912 | Methylmalonic acidemia |
| HP:0012120 | Methylmalonic aciduria |
| HP:0011223 | Metopic depression |
| HP:0005495 | Metopic suture patent to nasal root |
| HP:0011330 | Metopic synostosis |
| HP:0100608 | Metrorrhagia |
| HP:0012594 | Microalbuminuria |
| HP:0001937 | Microangiopathic hemolytic anemia |
| HP:0430010 | Microblepharia |
| HP:0000252 | Microcephaly |
| HP:0004388 | Microcolon |
| HP:0000482 | Microcornea |
| HP:0001935 | Microcytic anemia |
| HP:0000691 | Microdontia |
| HP:0006347 | Microdontia of primary teeth |
| HP:0100841 | Microgastria |
| HP:0000171 | Microglossia |
| HP:0000347 | Micrognathia |
| HP:0002983 | Micromelia |
| HP:0001413 | Micronodular cirrhosis |
| HP:0000054 | Micropenis |
| HP:0012376 | Microphakia |
| HP:0030260 | Microphallus |
| HP:0000568 | Microphthalmia |
| HP:0000308 | Microretrognathia |
| HP:0007792 | Microsaccadic pursuit |
| HP:0002907 | Microscopic hematuria |
| HP:0008327 | Microscopic nephrocalcinosis |
| HP:0004835 | Microspherocytosis |
| HP:0008551 | Microtia |
| HP:0011266 | Microtia, first degree |
| HP:0008569 | Microtia, second degree |
| HP:0011267 | Microtia, third degree |
| HP:0001414 | Microvesicular hepatic steatosis |
| HP:0012781 | Mid-frequency hearing loss |
| HP:0006638 | Midclavicular aplasia |
| HP:0006608 | Midclavicular hypoplasia |
| HP:0012493 | Middle cerebral artery stenosis |
| HP:0011800 | Midface retrusion |
| HP:0005211 | Midgut malrotation |
| HP:0007045 | Midline brain calcifications |
| HP:0010753 | Midline defect of mandible |
| HP:0004122 | Midline defect of the nose |
| HP:0011602 | Midline direction of ventricular apex |
| HP:0100629 | Midline facial cleft |
| HP:0004112 | Midline nasal groove |
| HP:0009084 | Midline notch of upper alveolar ridge |
| HP:0011828 | Midline sinus of philtrum |
| HP:0005498 | Midline skin dimples over anterior/posterior fontanelles |
| HP:0010643 | Midnasal atresia |
| HP:0010644 | Midnasal stenosis |
| HP:0012854 | Midshaft hypospadias |
| HP:0002076 | Migraine |
| HP:0002077 | Migraine with aura |
| HP:0002083 | Migraine without aura |
| HP:0008598 | Mild conductive hearing impairment |
| HP:0011346 | Mild expressive language delay |
| HP:0010952 | Mild fetal ventriculomegaly |
| HP:0011342 | Mild global developmental delay |
| HP:0012712 | Mild hearing impairment |
| HP:0008883 | Mild intrauterine growth retardation |
| HP:0040196 | Mild microcephaly |
| HP:0008587 | Mild neurosensory hearing impairment |
| HP:0001530 | Mild postnatal growth retardation |
| HP:0012595 | Mild proteinuria |
| HP:0011350 | Mild receptive language delay |
| HP:0003502 | Mild short stature |
| HP:0008180 | Mildly elevated creatine phosphokinase |
| HP:0012663 | Mildly reduced ejection fraction |
| HP:0001056 | Milia |
| HP:0003789 | Minicore myopathy |
| HP:0012579 | Minimal change glomerulonephritis |
| HP:0003717 | Minimal subcutaneous fat |
| HP:0000616 | Miosis |
| HP:0010691 | Mirror image foot polydactyly |
| HP:0010690 | Mirror image hand polydactyly |
| HP:0010689 | Mirror image polydactyly |
| HP:0011062 | Misalignment of incisors |
| HP:0000692 | Misalignment of teeth |
| HP:0025113 | Misophonia |
| HP:0000921 | Missing ribs |
| HP:0030059 | Mitochondrial depletion |
| HP:0006789 | Mitochondrial encephalopathy |
| HP:0008265 | Mitochondrial lysine transport defect |
| HP:0003232 | Mitochondrial malic enzyme reduced |
| HP:0003737 | Mitochondrial myopathy |
| HP:0003288 | Mitochondrial propionyl-CoA carboxylase defect |
| HP:0200125 | Mitochondrial respiratory chain defects |
| HP:0030774 | Mitochondrial swelling |
| HP:0011560 | Mitral atresia |
| HP:0001653 | Mitral regurgitation |
| HP:0001718 | Mitral stenosis |
| HP:0011564 | Mitral valve arcade |
| HP:0004382 | Mitral valve calcification |
| HP:0001634 | Mitral valve prolapse |
| HP:0004057 | Mitten deformity |
| HP:0011005 | Mixed cirrhosis |
| HP:0007327 | Mixed demyelinating and axonal polyneuropathy |
| HP:0000410 | Mixed hearing impairment |
| HP:0009123 | Mixed hypo- and hyperpigmentation of the skin |
| HP:0005967 | Mixed respiratory and metabolic acidosis |
| HP:0005825 | Mixed sclerosis of humeral metaphyses |
| HP:0011722 | Mixed total anomalous pulmonary venous connection |
| HP:0030824 | Mizuo phenomenon |
| HP:0012004 | Mnemonic auras |
| HP:0011707 | Mobitz I atrioventricular block |
| HP:0011708 | Mobitz II atrioventricular block |
| HP:0012716 | Moderate conductive hearing impairment |
| HP:0011345 | Moderate expressive language delay |
| HP:0005653 | Moderate generalized osteoporosis |
| HP:0011343 | Moderate global developmental delay |
| HP:0012713 | Moderate hearing impairment |
| HP:0011408 | Moderate intrauterine growth retardation |
| HP:0008855 | Moderate postnatal growth retardation |
| HP:0012596 | Moderate proteinuria |
| HP:0011351 | Moderate receptive language delay |
| HP:0008504 | Moderate sensorineural hearing impairment |
| HP:0030515 | Moderate visual impairment |
| HP:0012665 | Moderately reduced ejection fraction |
| HP:0008848 | Moderately short stature |
| HP:0030776 | Modic type I vertebral endplate changes |
| HP:0030777 | Modic type II vertebral endplate changes |
| HP:0030778 | Modic type III vertebral endplate changes |
| HP:0030775 | Modic type vertebral endplate changes |
| HP:0002419 | Molar tooth sign on MRI |
| HP:0011093 | Molarization of premolar |
| HP:0000993 | Molluscoid pseudotumors |
| HP:0003570 | Molybdenum cofactor deficiency |
| HP:0011369 | Mongolian blue spot |
| HP:0007803 | Monochromacy |
| HP:0007747 | Monocular horizontal nystagmus |
| HP:0012312 | Monocytopenia |
| HP:0012311 | Monocytosis |
| HP:0009831 | Mononeuropathy |
| HP:0030868 | Monorchism |
| HP:0010736 | Monostotic fibrous dysplasia |
| HP:0001575 | Mood changes |
| HP:0000720 | Mood swings |
| HP:0012282 | Morbilliform rash |
| HP:0010889 | Morbus Kienboeck |
| HP:0010888 | Morbus Koehler |
| HP:0010890 | Morbus Osgood-Schlatter |
| HP:0010891 | Morbus Scheuermann |
| HP:0025194 | Morgagni diaphragmatic hernia |
| HP:0007000 | Morning myoclonic jerks |
| HP:0012344 | Morphea |
| HP:0040108 | Morphological abnormality of the anterior semicircular canal |
| HP:0002011 | Morphological abnormality of the central nervous system |
| HP:0012718 | Morphological abnormality of the gastrointestinal tract |
| HP:0011390 | Morphological abnormality of the inner ear |
| HP:0040106 | Morphological abnormality of the lateral semicircular canal |
| HP:0008609 | Morphological abnormality of the middle ear |
| HP:0011391 | Morphological abnormality of the nerves of the inner ear |
| HP:0040107 | Morphological abnormality of the posterior semicircular canal |
| HP:0002062 | Morphological abnormality of the pyramidal tract |
| HP:0040110 | Morphological abnormality of the saccule |
| HP:0011380 | Morphological abnormality of the semicircular canal |
| HP:0040109 | Morphological abnormality of the utricle |
| HP:0011376 | Morphological abnormality of the vestibule of the inner ear |
| HP:0100690 | Mosaic central corneal dystrophy |
| HP:0007836 | Mosaic corneal dystrophy |
| HP:0100298 | Motheaten muscle fibers |
| HP:0002427 | Motor aphasia |
| HP:0007002 | Motor axonal neuropathy |
| HP:0012078 | Motor conduction block |
| HP:0001270 | Motor delay |
| HP:0002333 | Motor deterioration |
| HP:0040200 | Motor impersistence |
| HP:0007373 | Motor neuron atrophy |
| HP:0007178 | Motor polyneuropathy |
| HP:0100034 | Motor tics |
| HP:0001070 | Mottled pigmentation |
| HP:0007511 | Mottled pigmentation of photoexposed areas |
| HP:0007438 | Mottled pigmentation of the trunk and proximal extremities |
| HP:0000182 | Movement abnormality of the tongue |
| HP:0011834 | Moyamoya phenomenon |
| HP:0030677 | Mozart ear |
| HP:0040138 | Mucinous histiocytosis |
| HP:0008155 | Mucopolysacchariduria |
| HP:0100579 | Mucosal telangiectasiae |
| HP:0011092 | Mulberry molar |
| HP:0008835 | Multicentric femoral head ossification |
| HP:0006450 | Multicentric ossification of proximal femoral epiphyses |
| HP:0004997 | Multicentric ossification of proximal humeral epiphyses |
| HP:0000003 | Multicystic kidney dysplasia |
| HP:0012589 | Multidrug-resistant nephrotic syndrome |
| HP:0011701 | Multifocal atrial tachycardia |
| HP:0007052 | Multifocal cerebral white matter abnormalities |
| HP:0010841 | Multifocal epileptiform discharges |
| HP:0025060 | Multifocal splenic abscess |
| HP:0005987 | Multinodular goiter |
| HP:0030330 | Multinucleated giant chondrocytes in epiphyseal cartilage |
| HP:0011529 | Multiple bilateral congenital hypertrophy of retinal pigment epithelium |
| HP:0005939 | Multiple bilateral pneumothoraces |
| HP:0012619 | Multiple bladder diverticula |
| HP:0012065 | Multiple bony cystic lesions |
| HP:0007565 | Multiple cafe-au-lait spots |
| HP:0006067 | Multiple carpal ossification centers |
| HP:0002654 | Multiple epiphyseal dysplasia |
| HP:0100611 | Multiple glomerular cysts |
| HP:0001571 | Multiple impacted teeth |
| HP:0002828 | Multiple joint contractures |
| HP:0012095 | Multiple joint dislocation |
| HP:0001003 | Multiple lentigines |
| HP:0003689 | Multiple mitochondrial DNA deletions |
| HP:0011625 | Multiple muscular ventricular septal defects |
| HP:0006321 | Multiple non-erupting secondary teeth |
| HP:0006114 | Multiple palmar creases |
| HP:0008113 | Multiple plantar creases |
| HP:0005855 | Multiple prenatal fractures |
| HP:0001040 | Multiple pterygia |
| HP:0005562 | Multiple renal cysts |
| HP:0006640 | Multiple rib fractures |
| HP:0008496 | Multiple rows of eyelashes |
| HP:0005775 | Multiple skeletal anomalies |
| HP:0004797 | Multiple small bowel atresias |
| HP:0008659 | Multiple small medullary renal cysts |
| HP:0005877 | Multiple small vertebral fractures |
| HP:0011324 | Multiple suture craniosynostosis |
| HP:0006283 | Multiple unerupted teeth |
| HP:0003800 | Muscle abnormality related to mitochondrial dysfunction |
| HP:0003394 | Muscle cramps |
| HP:0025200 | Muscle fiber actin filament accumulation |
| HP:0100295 | Muscle fiber atrophy |
| HP:0100303 | Muscle fiber cytoplasmatic inclusion bodies |
| HP:0100306 | Muscle fiber hyaline bodies |
| HP:0100293 | Muscle fiber hypertrophy |
| HP:0100299 | Muscle fiber inclusion bodies |
| HP:0100304 | Muscle fiber intranuclear inclusion bodies |
| HP:0003713 | Muscle fiber necrosis |
| HP:0003555 | Muscle fiber splitting |
| HP:0100301 | Muscle fiber tubular inclusions |
| HP:0100302 | Muscle fiber tubuloreticular inclusions |
| HP:0010546 | Muscle fibrillation |
| HP:0010547 | Muscle flaccidity |
| HP:0040242 | Muscle haemorrhage |
| HP:0003559 | Muscle hyperirritability |
| HP:0008968 | Muscle hypertrophy of the lower extremities |
| HP:0003719 | Muscle mounding |
| HP:0030210 | Muscle specific kinase antibody positivity |
| HP:0003552 | Muscle stiffness |
| HP:0001324 | Muscle weakness |
| HP:0100573 | Muscular cardiac diverticulum |
| HP:0003560 | Muscular dystrophy |
| HP:0100748 | Muscular edema |
| HP:0001252 | Muscular hypotonia |
| HP:0008936 | Muscular hypotonia of the trunk |
| HP:0001691 | Muscular subvalvular aortic stenosis |
| HP:0011623 | Muscular ventricular septal defect |
| HP:0002300 | Mutism |
| HP:0003326 | Myalgia |
| HP:0011499 | Mydriasis |
| HP:0004336 | Myelin outfoldings |
| HP:0030175 | Myelin tomacula |
| HP:0006990 | Myelin-dependent gliosis |
| HP:0012486 | Myelitis |
| HP:0030709 | Myelocystocele |
| HP:0011974 | Myelofibrosis |
| HP:0002475 | Myelomeningocele |
| HP:0002196 | Myelopathy |
| HP:0030708 | Myeloschisis |
| HP:0006690 | Myocardial calcification |
| HP:0001685 | Myocardial fibrosis |
| HP:0001658 | Myocardial infarction |
| HP:0001700 | Myocardial necrosis |
| HP:0006693 | Myocardial steatosis |
| HP:0012819 | Myocarditis |
| HP:0011150 | Myoclonic absences |
| HP:0011170 | Myoclonic atonic seizures |
| HP:0003739 | Myoclonic spasms |
| HP:0001336 | Myoclonus |
| HP:0003715 | Myofibrillar myopathy |
| HP:0002913 | Myoglobinuria |
| HP:0002411 | Myokymia |
| HP:0002058 | Myopathic facies |
| HP:0003198 | Myopathy |
| HP:0000545 | Myopia |
| HP:0100614 | Myositis |
| HP:0002486 | Myotonia |
| HP:0012900 | Myotonia of the face |
| HP:0012901 | Myotonia of the jaw |
| HP:0012902 | Myotonia of the lower limb |
| HP:0012903 | Myotonia of the upper limb |
| HP:0003740 | Myotonia with warm-up phenomenon |
| HP:0004764 | Myxomatous mitral valve degeneration |
| HP:0010733 | Naevus flammeus of the eyelid |
| HP:0030254 | Nail bed hemorrhage |
| HP:0001232 | Nail bed telangiectasia |
| HP:0002164 | Nail dysplasia |
| HP:0008404 | Nail dystrophy |
| HP:0001803 | Nail pits |
| HP:0012170 | Nail-biting |
| HP:0030050 | Narcolepsy |
| HP:0008473 | Narrow anterio-posterior vertebral body diameter |
| HP:0004264 | Narrow carpal joint spaces |
| HP:0000774 | Narrow chest |
| HP:0000275 | Narrow face |
| HP:0008819 | Narrow femoral neck |
| HP:0001786 | Narrow foot |
| HP:0100958 | Narrow foramen obturatorium |
| HP:0000341 | Narrow forehead |
| HP:0003375 | Narrow greater sacrosciatic notches |
| HP:0002868 | Narrow iliac wings |
| HP:0011386 | Narrow internal auditory canal |
| HP:0012801 | Narrow jaw |
| HP:0003944 | Narrow joint spaces of the elbow |
| HP:0004048 | Narrow joint spaces of wrist |
| HP:0002010 | Narrow maxilla |
| HP:0000160 | Narrow mouth |
| HP:0011313 | Narrow nail |
| HP:0009933 | Narrow naris |
| HP:0012809 | Narrow nasal base |
| HP:0000446 | Narrow nasal bridge |
| HP:0000418 | Narrow nasal ridge |
| HP:0009936 | Narrow nasal septum |
| HP:0011832 | Narrow nasal tip |
| HP:0000460 | Narrow nose |
| HP:0000189 | Narrow palate |
| HP:0004283 | Narrow palm |
| HP:0045025 | Narrow palpebral fissure |
| HP:0003275 | Narrow pelvis bone |
| HP:0030262 | Narrow penis |
| HP:0011829 | Narrow philtrum |
| HP:0008803 | Narrow sacroiliac notch |
| HP:0004267 | Narrow small joints of the hand |
| HP:0010811 | Narrow uvula |
| HP:0008450 | Narrow vertebral interpedicular distance |
| HP:0030863 | Nasal flaring |
| HP:0000434 | Nasal mucosa telangiectasia |
| HP:0001742 | Nasal obstruction |
| HP:0100582 | Nasal polyposis |
| HP:0011469 | Nasal regurgitation |
| HP:0001611 | Nasal speech |
| HP:0008376 | Nasal, dysarthic speech |
| HP:0011818 | Nasofrontal encephalocele |
| HP:0011470 | Nasogastric tube feeding in infancy |
| HP:0000579 | Nasolacrimal duct obstruction |
| HP:0000695 | Natal tooth |
| HP:0002018 | Nausea |
| HP:0002017 | Nausea and vomiting |
| HP:0003722 | Neck flexor weakness |
| HP:0012893 | Neck muscle hypertrophy |
| HP:0008984 | Neck muscle hypoplasia |
| HP:0000467 | Neck muscle weakness |
| HP:0030833 | Neck pain |
| HP:0009759 | Neck pterygia |
| HP:0006976 | Necrotizing encephalopathy |
| HP:0008978 | Necrotizing myopathy |
| HP:0003203 | Negative nitroblue tetrazolium reduction test |
| HP:0003798 | Nemaline bodies |
| HP:0004809 | Neonatal alloimmune thrombocytopenia |
| HP:0012768 | Neonatal asphyxia |
| HP:0002790 | Neonatal breathing dysregulation |
| HP:0006566 | Neonatal cholestatic liver disease |
| HP:0005756 | Neonatal epiphyseal stippling |
| HP:0003265 | Neonatal hyperbilirubinemia |
| HP:0001998 | Neonatal hypoglycemia |
| HP:0008360 | Neonatal hypoproteinemia |
| HP:0001319 | Neonatal hypotonia |
| HP:0004875 | Neonatal inspiratory stridor |
| HP:0000857 | Neonatal insulin-dependent diabetes mellitus |
| HP:0005234 | Neonatal intestinal obstruction |
| HP:0002643 | Neonatal respiratory distress |
| HP:0040187 | Neonatal sepsis |
| HP:0008921 | Neonatal short-limb short stature |
| HP:0008857 | Neonatal short-trunk short stature |
| HP:0008176 | Neonatal unconjugated hyperbilirubinemia |
| HP:0007414 | Neonatal wrinkled skin of hands and feet |
| HP:0011752 | Neoplasm of the posterior pituitary |
| HP:0000123 | Nephritis |
| HP:0000121 | Nephrocalcinosis |
| HP:0009806 | Nephrogenic diabetes insipidus |
| HP:0100880 | Nephrogenic rest |
| HP:0000787 | Nephrolithiasis |
| HP:0000090 | Nephronophthisis |
| HP:0000112 | Nephropathy |
| HP:0011126 | Nephroptosis |
| HP:0009741 | Nephrosclerosis |
| HP:0012593 | Nephrotic range proteinuria |
| HP:0000100 | Nephrotic syndrome |
| HP:0045005 | Neural tube defect |
| HP:0030725 | Neurenteric cyst |
| HP:0002180 | Neurodegeneration |
| HP:0012759 | Neurodevelopmental abnormality |
| HP:0012758 | Neurodevelopmental delay |
| HP:0002185 | Neurofibrillary tangles |
| HP:0000011 | Neurogenic bladder |
| HP:0002167 | Neurological speech impairment |
| HP:0002068 | Neuromuscular dysphagia |
| HP:0200147 | Neuronal loss in basal ganglia |
| HP:0002529 | Neuronal loss in central nervous system |
| HP:0007190 | Neuronal loss in the cerebral cortex |
| HP:0002821 | Neuropathic arthropathy |
| HP:0008353 | Neutral hyperaminoaciduria |
| HP:0001875 | Neutropenia |
| HP:0008264 | Neutrophil inclusion bodies |
| HP:0011897 | Neutrophillia |
| HP:0003764 | Nevus |
| HP:0025105 | Nevus anemicus |
| HP:0001052 | Nevus flammeus |
| HP:0007616 | Nevus flammeus nuchae |
| HP:0007413 | Nevus flammeus of the forehead |
| HP:0009920 | Nevus of Ota |
| HP:0025106 | Nevus roseus |
| HP:0010815 | Nevus sebaceous |
| HP:0030166 | Night sweats |
| HP:0008498 | No permanent dentition |
| HP:0008763 | No social interaction |
| HP:0000017 | Nocturia |
| HP:0002877 | Nocturnal hypoventilation |
| HP:0030002 | Nocturnal lagophthalmos |
| HP:0004759 | Nodular calcific aortic valve disease |
| HP:0010732 | Nodular changes affecting the eyelids |
| HP:0007827 | Nodular corneal dystrophy |
| HP:0005994 | Nodular goiter |
| HP:0005300 | Nodular inflammatory vasculitis |
| HP:0011954 | Nodular regenerative hyperplasia of liver |
| HP:0025173 | Nodular septal thickening |
| HP:0005574 | Non-acidotic proximal tubulopathy |
| HP:0012220 | Non-caseating epithelioid cell granulomatosis |
| HP:0100335 | Non-midline cleft lip |
| HP:0100338 | Non-midline cleft palate |
| HP:0011961 | Non-obstructive azoospermia |
| HP:0011137 | Non-pruritic urticaria |
| HP:0025235 | Non-rapid eye movement parasomnia |
| HP:0011684 | Non-restrictive ventricular septal defect |
| HP:0007238 | Nonarteriosclerotic cerebral calcification |
| HP:0007634 | Nonarteritic anterior ischemic optic neuropathy |
| HP:0010953 | Noncommunicating hydrocephalus |
| HP:0012817 | Noncompaction cardiomyopathy |
| HP:0007404 | Nonepidermolytic palmoplantar keratoderma |
| HP:0007813 | Nongranulomatous uveitis |
| HP:0001790 | Nonimmune hydrops fetalis |
| HP:0008288 | Nonketotic hyperglycinemia |
| HP:0001958 | Nonketotic hypoglycemia |
| HP:0012208 | Nonmotile sperm |
| HP:0007692 | Nonnuclear polymorphic congenital cataract |
| HP:0012436 | Nonocclusive coronary artery disease |
| HP:0005725 | Nonopposable triphalangeal thumb |
| HP:0008087 | Nonossified fifth metatarsal |
| HP:0002470 | Nonprogressive cerebellar ataxia |
| HP:0007030 | Nonprogressive encephalopathy |
| HP:0008964 | Nonprogressive muscular atrophy |
| HP:0007831 | Nonprogressive restrictive external ophthalmoplegia |
| HP:0200068 | Nonprogressive visual loss |
| HP:0001930 | Nonspherocytic hemolytic anemia |
| HP:0003852 | Normal density transverse bands in metaphyses of the upper limbs |
| HP:0002372 | Normal interictal EEG |
| HP:0002343 | Normal pressure hydrocephalus |
| HP:0003916 | Normal-density transverse humeral bands |
| HP:0001895 | Normochromic anemia |
| HP:0004856 | Normochromic microcytic anemia |
| HP:0001897 | Normocytic anemia |
| HP:0004819 | Normocytic hypoplastic anemia |
| HP:0004284 | Notched hand bones |
| HP:0012413 | Notched primary central incisor |
| HP:0003989 | Notched ulna |
| HP:0012498 | Nuchal cord |
| HP:0100018 | Nuclear cataract |
| HP:0010698 | Nuclear pulverulent cataract |
| HP:0010925 | Nuclear punctate cataract |
| HP:0005603 | Numerous congenital melanocytic nevi |
| HP:0007587 | Numerous pigmented freckles |
| HP:0030505 | Nummular pigmentation of the retina |
| HP:0000662 | Nyctalopia |
| HP:0000639 | Nystagmus |
| HP:0001361 | Nystagmus-induced head nodding |
| HP:0001513 | Obesity |
| HP:0030312 | Obliteration of the calvarial diploe |
| HP:0006350 | Obliteration of the pulp chamber |
| HP:0000722 | Obsessive-compulsive behavior |
| HP:0008770 | Obsessive-compulsive trait |
| HP:0011962 | Obstructive azoospermia |
| HP:0030877 | Obstructive deficit on pulmonary function testing |
| HP:0006536 | Obstructive lung disease |
| HP:0002870 | Obstructive sleep apnea |
| HP:0011151 | Obtundation status |
| HP:0005446 | Obtuse angle of mandible |
| HP:0012105 | Occipital cortical atrophy |
| HP:0002085 | Occipital encephalocele |
| HP:0002436 | Occipital meningocele |
| HP:0007271 | Occipital myelomeningocele |
| HP:0012318 | Occipital neuralgia |
| HP:0030636 | Occult macular dystrophy |
| HP:0030764 | Ochronosis |
| HP:0001107 | Ocular albinism |
| HP:0010868 | Ocular dyssynergia |
| HP:0200026 | Ocular pain |
| HP:0010553 | Oculogyric crisis |
| HP:0000657 | Oculomotor apraxia |
| HP:0012246 | Oculomotor nerve palsy |
| HP:0040113 | Old-aged sensorineural hearing impairment |
| HP:0011161 | Olfactory auras |
| HP:0001341 | Olfactory lobe agenesis |
| HP:0012165 | Oligodactyly |
| HP:0000677 | Oligodontia |
| HP:0012225 | Oligodontia of primary teeth |
| HP:0001562 | Oligohydramnios |
| HP:0000876 | Oligomenorrhea |
| HP:0010471 | Oligosacchariduria |
| HP:0000798 | Oligospermia |
| HP:0100520 | Oliguria |
| HP:0008303 | Olivary degeneration |
| HP:0002542 | Olivopontocerebellar atrophy |
| HP:0006955 | Olivopontocerebellar hypoplasia |
| HP:0001539 | Omphalocele |
| HP:0005152 | Oncocytic cardiomyopathy |
| HP:0003383 | Onion bulb formation |
| HP:0012542 | Onychauxis |
| HP:0040036 | Onychogryposis of fingernail |
| HP:0008401 | Onychogryposis of toenails |
| HP:0001806 | Onycholysis |
| HP:0008400 | Onycholysis of distal fingernails |
| HP:0040039 | Onycholysis of fingernails |
| HP:0040040 | Onycholysis of toenails |
| HP:0025088 | Onychomadesis |
| HP:0012203 | Onychomycosis |
| HP:0007727 | Opacification of the corneal epithelium |
| HP:0007759 | Opacification of the corneal stroma |
| HP:0010807 | Open bite |
| HP:0025251 | Open comedo |
| HP:0000194 | Open mouth |
| HP:0100954 | Open operculum |
| HP:0000597 | Ophthalmoparesis |
| HP:0000602 | Ophthalmoplegia |
| HP:0002179 | Opisthotonus |
| HP:0030180 | Oppenheim reflex |
| HP:0005866 | Opposable triphalangeal thumb |
| HP:0010865 | Oppositional defiant disorder |
| HP:0010543 | Opsoclonus |
| HP:0000648 | Optic atrophy |
| HP:0007958 | Optic atrophy from cranial nerve compression |
| HP:0012426 | Optic disc drusen |
| HP:0007766 | Optic disc hypoplasia |
| HP:0000543 | Optic disc pallor |
| HP:0012521 | Optic nerve aplasia |
| HP:0000588 | Optic nerve coloboma |
| HP:0007807 | Optic nerve compression |
| HP:0001093 | Optic nerve dysplasia |
| HP:0000609 | Optic nerve hypoplasia |
| HP:0100653 | Optic neuritis |
| HP:0001138 | Optic neuropathy |
| HP:0030663 | Optically empty vitreous |
| HP:0012523 | Oral aversion |
| HP:0040184 | Oral bleeding |
| HP:0030140 | Oral cavity bleeding |
| HP:0000228 | Oral cavity telangiectasia |
| HP:0000202 | Oral cleft |
| HP:0030934 | Oral erythroplakia |
| HP:0025126 | Oral hairy leukoplakia |
| HP:0002745 | Oral leukoplakia |
| HP:0030190 | Oral motor hypotonia |
| HP:0200097 | Oral mucosal blisters |
| HP:0010285 | Oral synechia |
| HP:0000155 | Oral ulcer |
| HP:0200136 | Oral-pharyngeal dysphagia |
| HP:0030814 | Orange discoloured tonsils |
| HP:0005472 | Orbital craniosynostosis |
| HP:0001144 | Orbital cyst |
| HP:0007115 | Orbital encephalocele |
| HP:0100796 | Orchitis |
| HP:0001992 | Organic aciduria |
| HP:0003532 | Ornithinuria |
| HP:0002310 | Orofacial dyskinesia |
| HP:0012048 | Oromandibular dystonia |
| HP:0007301 | Oromotor apraxia |
| HP:0003526 | Orotic acid crystalluria |
| HP:0003218 | Oroticaciduria |
| HP:0040162 | Orthokeratosis |
| HP:0025080 | Orthokeratotic hyperkeratosis |
| HP:0012764 | Orthopnea |
| HP:0001278 | Orthostatic hypotension |
| HP:0004926 | Orthostatic hypotension due to autonomic dysfunction |
| HP:0012670 | Orthostatic syncope |
| HP:0012173 | Orthostatic tachycardia |
| HP:0005667 | Os odontoideum |
| HP:0040102 | Osseous atresia of the external auditory canal |
| HP:0010492 | Osseous finger syndactyly |
| HP:0040104 | Osseous stenosis of the external auditory canal |
| HP:0010717 | Osseous syndactyly of toes |
| HP:0002758 | Osteoarthritis |
| HP:0006233 | Osteoarthritis of the distal interphalangeal joint |
| HP:0003940 | Osteoarthritis of the elbow |
| HP:0006226 | Osteoarthritis of the first carpometacarpal joint |
| HP:0004268 | Osteoarthritis of the small joints of the hand |
| HP:0010886 | Osteochondritis Dissecans |
| HP:0040188 | Osteochondrosis |
| HP:0002797 | Osteolysis |
| HP:0009134 | Osteolysis involving bones of the feet |
| HP:0009139 | Osteolysis involving bones of the lower limbs |
| HP:0045039 | Osteolysis involving bones of the upper limbs |
| HP:0006234 | Osteolysis involving tarsal bones |
| HP:0006378 | Osteolysis of patellae |
| HP:0006202 | Osteolysis of scaphoids |
| HP:0008095 | Osteolysis of talus |
| HP:0009645 | Osteolytic defect of the distal phalanx of the thumb |
| HP:0009633 | Osteolytic defect of the proximal phalanx of the thumb |
| HP:0010207 | Osteolytic defect of the proximal toe phalanx |
| HP:0009654 | Osteolytic defect of thumb phalanx |
| HP:0010030 | Osteolytic defects of the 1st metacarpal |
| HP:0010071 | Osteolytic defects of the 1st metatarsal |
| HP:0009839 | Osteolytic defects of the distal phalanges of the hand |
| HP:0010189 | Osteolytic defects of the distal phalanges of the toes |
| HP:0009561 | Osteolytic defects of the distal phalanx of the 2nd finger |
| HP:0010417 | Osteolytic defects of the distal phalanx of the 2nd toe |
| HP:0009424 | Osteolytic defects of the distal phalanx of the 3rd finger |
| HP:0100458 | Osteolytic defects of the distal phalanx of the 3rd toe |
| HP:0009303 | Osteolytic defects of the distal phalanx of the 4th finger |
| HP:0100459 | Osteolytic defects of the distal phalanx of the 4th toe |
| HP:0009242 | Osteolytic defects of the distal phalanx of the 5th finger |
| HP:0100460 | Osteolytic defects of the distal phalanx of the 5th toe |
| HP:0010080 | Osteolytic defects of the distal phalanx of the hallux |
| HP:0009699 | Osteolytic defects of the hand bones |
| HP:0009847 | Osteolytic defects of the middle phalanges of the hand |
| HP:0010198 | Osteolytic defects of the middle phalanges of the toes |
| HP:0009572 | Osteolytic defects of the middle phalanx of the 2nd finger |
| HP:0010408 | Osteolytic defects of the middle phalanx of the 2nd toe |
| HP:0009433 | Osteolytic defects of the middle phalanx of the 3rd finger |
| HP:0100452 | Osteolytic defects of the middle phalanx of the 3rd toe |
| HP:0009297 | Osteolytic defects of the middle phalanx of the 4th finger |
| HP:0100453 | Osteolytic defects of the middle phalanx of the 4th toe |
| HP:0009170 | Osteolytic defects of the middle phalanx of the 5th finger |
| HP:0100454 | Osteolytic defects of the middle phalanx of the 5th toe |
| HP:0009550 | Osteolytic defects of the phalanges of the 2nd finger |
| HP:0010351 | Osteolytic defects of the phalanges of the 2nd toe |
| HP:0009443 | Osteolytic defects of the phalanges of the 3rd finger |
| HP:0010363 | Osteolytic defects of the phalanges of the 3rd toe |
| HP:0004195 | Osteolytic defects of the phalanges of the 4th finger |
| HP:0010375 | Osteolytic defects of the phalanges of the 4th toe |
| HP:0004216 | Osteolytic defects of the phalanges of the 5th finger |
| HP:0010387 | Osteolytic defects of the phalanges of the 5th toe |
| HP:0010062 | Osteolytic defects of the phalanges of the hallux |
| HP:0009771 | Osteolytic defects of the phalanges of the hand |
| HP:0010177 | Osteolytic defects of the phalanges of the toes |
| HP:0009855 | Osteolytic defects of the proximal phalanges of the hand |
| HP:0009584 | Osteolytic defects of the proximal phalanx of the 2nd finger |
| HP:0010399 | Osteolytic defects of the proximal phalanx of the 2nd toe |
| HP:0009453 | Osteolytic defects of the proximal phalanx of the 3rd finger |
| HP:0100455 | Osteolytic defects of the proximal phalanx of the 3rd toe |
| HP:0009312 | Osteolytic defects of the proximal phalanx of the 4th finger |
| HP:0100456 | Osteolytic defects of the proximal phalanx of the 4th toe |
| HP:0009230 | Osteolytic defects of the proximal phalanx of the 5th finger |
| HP:0100457 | Osteolytic defects of the proximal phalanx of the 5th toe |
| HP:0010089 | Osteolytic defects of the proximal phalanx of the hallux |
| HP:0025027 | Osteoma cutis |
| HP:0002749 | Osteomalacia |
| HP:0002754 | Osteomyelitis |
| HP:0002755 | Osteomyelitis due to immunodeficiency |
| HP:0005010 | Osteomyelitis leading to amputation due to slow healing fractures |
| HP:0010740 | Osteopathia striata |
| HP:0000938 | Osteopenia |
| HP:0011002 | Osteopetrosis |
| HP:0010739 | Osteopoikilosis |
| HP:0000939 | Osteoporosis |
| HP:0005625 | Osteoporosis of vertebrae |
| HP:0003964 | Osteoporotic forearm bones |
| HP:0003876 | Osteoporotic humerus |
| HP:0004699 | Osteoporotic metatarsal |
| HP:0008076 | Osteoporotic tarsals |
| HP:0006634 | Osteosclerosis of ribs |
| HP:0005746 | Osteosclerosis of the base of the skull |
| HP:0040061 | Osteosclerosis of the radius |
| HP:0003991 | Osteosclerosis of the ulna |
| HP:0000388 | Otitis media |
| HP:0000362 | Otosclerosis |
| HP:0000300 | Oval face |
| HP:0025310 | Oval pupil |
| HP:0003877 | Oval transradiancy of humerus |
| HP:0000138 | Ovarian cyst |
| HP:0012887 | Ovarian serous cystadenoma |
| HP:0011094 | Overbite |
| HP:0000396 | Overfolded helix |
| HP:0004453 | Overfolding of the superior helices |
| HP:0100025 | Overfriendliness |
| HP:0001548 | Overgrowth |
| HP:0003247 | Overgrowth of external genitalia |
| HP:0011833 | Overhanging nasal tip |
| HP:0011095 | Overjet |
| HP:0010557 | Overlapping fingers |
| HP:0001845 | Overlapping toe |
| HP:0004285 | Overmodelled hand bones |
| HP:0002623 | Overriding aorta |
| HP:0011561 | Overriding atrioventricular valve |
| HP:0006391 | Overtubulated long bones |
| HP:0003309 | Ovoid thoracolumbar vertebrae |
| HP:0003300 | Ovoid vertebral bodies |
| HP:0012861 | Ovotestis |
| HP:0000263 | Oxycephaly |
| HP:0030874 | Oxygen desaturation on exertion |
| HP:0001302 | Pachygyria |
| HP:0012531 | Pain |
| HP:0007021 | Pain insensitivity |
| HP:0002661 | Painless fractures due to injury |
| HP:0010530 | Palatal myoclonus |
| HP:0010294 | Palate fistula |
| HP:0002707 | Palate telangiectasia |
| HP:0007132 | Pallidal degeneration |
| HP:0000980 | Pallor |
| HP:0006825 | Pallor of dorsal columns of the spinal cord |
| HP:0006089 | Palmar hyperhidrosis |
| HP:0010765 | Palmar hyperkeratosis |
| HP:0010610 | Palmar pits |
| HP:0100869 | Palmar telangiectasia |
| HP:0030902 | Palmomental reflex |
| HP:0007446 | Palmoplantar blistering |
| HP:0007469 | Palmoplantar cutis gyrata |
| HP:0007517 | Palmoplantar cutis laxa |
| HP:0007410 | Palmoplantar hyperhidrosis |
| HP:0000972 | Palmoplantar hyperkeratosis |
| HP:0000982 | Palmoplantar keratoderma |
| HP:0007548 | Palmoplantar keratosis with erythema and scale |
| HP:0100847 | Palmoplantar pustulosis |
| HP:0100540 | Palpebral edema |
| HP:0000661 | Palpebral fissure narrowing on adduction |
| HP:0030939 | Palpebral thickening |
| HP:0001962 | Palpitations |
| HP:0025079 | Pancreatic abscess |
| HP:0100801 | Pancreatic aplasia |
| HP:0005213 | Pancreatic calcification |
| HP:0001737 | Pancreatic cysts |
| HP:0005232 | Pancreatic dysplasia |
| HP:0100732 | Pancreatic fibrosis |
| HP:0100844 | Pancreatic fistula |
| HP:0006277 | Pancreatic hyperplasia |
| HP:0002594 | Pancreatic hypoplasia |
| HP:0004510 | Pancreatic islet-cell hyperplasia |
| HP:0006273 | Pancreatic lymphangiectasis |
| HP:0005206 | Pancreatic pseudocyst |
| HP:0001733 | Pancreatitis |
| HP:0001876 | Pancytopenia |
| HP:0003139 | Panhypogammaglobulinemia |
| HP:0000871 | Panhypopituitarism |
| HP:0025269 | Panic attack |
| HP:0012490 | Panniculitis |
| HP:0011325 | Pansynostosis |
| HP:0012121 | Panuveitis |
| HP:0001085 | Papilledema |
| HP:0200034 | Papule |
| HP:0030528 | Paracentral scotoma |
| HP:0011571 | Parachute mitral valve |
| HP:0003466 | Paradoxical increased cortisol secretion on dexamethasone suppression test |
| HP:0011809 | Paradoxical myotonia |
| HP:0030207 | Paradoxical respiration |
| HP:0001036 | Parakeratosis |
| HP:0003470 | Paralysis |
| HP:0002590 | Paralytic ileus |
| HP:0030003 | Paralytic lagophthalmos |
| HP:0100269 | Paramedian lip pit |
| HP:0006784 | Paranasal sinus hypoplasia |
| HP:0011999 | Paranoia |
| HP:0002385 | Paraparesis |
| HP:0100588 | Paraphimosis |
| HP:0010550 | Paraplegia |
| HP:0010551 | Paraplegia/paraparesis |
| HP:0025234 | Parasomnia |
| HP:0012894 | Paraspinal muscle hypertrophy |
| HP:0003529 | Parathormone-independent increased renal tubular calcium reabsorption |
| HP:0008211 | Parathyroid agenesis |
| HP:0011768 | Parathyroid dysgenesis |
| HP:0008208 | Parathyroid hyperplasia |
| HP:0000860 | Parathyroid hypoplasia |
| HP:0007903 | Paravenous chorioretinal atrophy |
| HP:0002601 | Paresis of extensor muscles of the big toe |
| HP:0003401 | Paresthesia |
| HP:0000242 | Parietal bossing |
| HP:0012104 | Parietal cortical atrophy |
| HP:0011816 | Parietal encephalocele |
| HP:0002697 | Parietal foramina |
| HP:0012662 | Parietal hypometabolism in FDG PET |
| HP:0030730 | Parietal meningocele |
| HP:0001300 | Parkinsonism |
| HP:0002548 | Parkinsonism with favorable response to dopaminergic medication |
| HP:0001818 | Paronychia |
| HP:0011850 | Parotitis |
| HP:0004757 | Paroxysmal atrial fibrillation |
| HP:0006671 | Paroxysmal atrial tachycardia |
| HP:0000749 | Paroxysmal bursts of laughter |
| HP:0007098 | Paroxysmal choreoathetosis |
| HP:0002330 | Paroxysmal drowsiness |
| HP:0007166 | Paroxysmal dyskinesia |
| HP:0012763 | Paroxysmal dyspnea |
| HP:0002268 | Paroxysmal dystonia |
| HP:0007704 | Paroxysmal involuntary eye movements |
| HP:0011973 | Paroxysmal lethargy |
| HP:0004818 | Paroxysmal nocturnal hemoglobinuria |
| HP:0025096 | Paroxysmal sneezing |
| HP:0004763 | Paroxysmal supraventricular tachycardia |
| HP:0006688 | Paroxysmal tachycardia |
| HP:0004751 | Paroxysmal ventricular tachycardia |
| HP:0010532 | Paroxysmal vertigo |
| HP:0005243 | Partial abdominal muscle agenesis |
| HP:0002951 | Partial absence of cerebellar vermis |
| HP:0011299 | Partial absence of finger |
| HP:0030032 | Partial absence of foot |
| HP:0030283 | Partial absence of the septum pellucidum |
| HP:0009659 | Partial absence of thumb |
| HP:0011305 | Partial absence of toe |
| HP:0001338 | Partial agenesis of the corpus callosum |
| HP:0007443 | Partial albinism |
| HP:0011498 | Partial aniridia |
| HP:0010773 | Partial anomalous pulmonary venous return |
| HP:0010633 | Partial anosmia |
| HP:0011577 | Partial atrioventricular canal defect |
| HP:0011180 | Partial beta-EEG |
| HP:0005375 | Partial cellular immunodeficiency |
| HP:0008290 | Partial complement factor H deficiency |
| HP:0008708 | Partial development of the penile shaft |
| HP:0011635 | Partial diaphragmatic absence of pericardium |
| HP:0045018 | Partial duplication of eyebrows |
| HP:0010428 | Partial duplication of phalanx of the 2nd toe |
| HP:0010099 | Partial duplication of the 1st metatarsal |
| HP:0010004 | Partial duplication of the distal phalanges of the hand |
| HP:0009951 | Partial duplication of the distal phalanx of the 2nd finger |
| HP:0010425 | Partial duplication of the distal phalanx of the 2nd toe |
| HP:0009968 | Partial duplication of the distal phalanx of the 3rd finger |
| HP:0100416 | Partial duplication of the distal phalanx of the 3rd toe |
| HP:0009981 | Partial duplication of the distal phalanx of the 4th finger |
| HP:0100417 | Partial duplication of the distal phalanx of the 4th toe |
| HP:0009994 | Partial duplication of the distal phalanx of the 5th finger |
| HP:0100418 | Partial duplication of the distal phalanx of the 5th toe |
| HP:0010097 | Partial duplication of the distal phalanx of the hallux |
| HP:0010005 | Partial duplication of the middle phalanges of the hand |
| HP:0009953 | Partial duplication of the middle phalanx of the 2nd finger |
| HP:0010427 | Partial duplication of the middle phalanx of the 2nd toe |
| HP:0009969 | Partial duplication of the middle phalanx of the 3rd finger |
| HP:0100419 | Partial duplication of the middle phalanx of the 3rd toe |
| HP:0009982 | Partial duplication of the middle phalanx of the 4th finger |
| HP:0100420 | Partial duplication of the middle phalanx of the 4th toe |
| HP:0009995 | Partial duplication of the middle phalanx of the 5th finger |
| HP:0100421 | Partial duplication of the middle phalanx of the 5th toe |
| HP:0009956 | Partial duplication of the phalanges of the 2nd finger |
| HP:0009961 | Partial duplication of the phalanges of the 3rd finger |
| HP:0009974 | Partial duplication of the phalanges of the 4th finger |
| HP:0009987 | Partial duplication of the phalanges of the 5th finger |
| HP:0010101 | Partial duplication of the phalanges of the hallux |
| HP:0009999 | Partial duplication of the phalanx of hand |
| HP:0010003 | Partial duplication of the proximal phalanges of the hand |
| HP:0009955 | Partial duplication of the proximal phalanx of the 2nd finger |
| HP:0010423 | Partial duplication of the proximal phalanx of the 2nd toe |
| HP:0009970 | Partial duplication of the proximal phalanx of the 3rd finger |
| HP:0100422 | Partial duplication of the proximal phalanx of the 3rd toe |
| HP:0009983 | Partial duplication of the proximal phalanx of the 4th finger |
| HP:0100423 | Partial duplication of the proximal phalanx of the 4th toe |
| HP:0009996 | Partial duplication of the proximal phalanx of the 5th finger |
| HP:0100424 | Partial duplication of the proximal phalanx of the 5th toe |
| HP:0010095 | Partial duplication of the proximal phalanx of the hallux |
| HP:0009944 | Partial duplication of thumb phalanx |
| HP:0008338 | Partial functional complement factor D deficiency |
| HP:0006207 | Partial fusion of carpals |
| HP:0005694 | Partial fusion of proximal row of carpal bones |
| HP:0008097 | Partial fusion of tarsals |
| HP:0005363 | Partial humoral immunodeficiency |
| HP:0010635 | Partial hyposmia |
| HP:0011837 | Partial IgA deficiency |
| HP:0011634 | Partial left sided absence of pericardium |
| HP:0011632 | Partial right sided absence of pericardium |
| HP:0008670 | Partial vaginal septum |
| HP:0006209 | Partial-complete absence of 5th phalanges |
| HP:0008738 | Partially duplicated kidney |
| HP:0002232 | Patchy alopecia |
| HP:0007791 | Patchy atrophy of the retinal pigment epithelium |
| HP:0010658 | Patchy changes of bone mineral density |
| HP:0002545 | Patchy demyelination of subcortical white matter |
| HP:0004609 | Patchy distortion of vertebrae |
| HP:0007509 | Patchy hypo- and hyperpigmentation |
| HP:0011365 | Patchy hypopigmentation of hair |
| HP:0005686 | Patchy osteosclerosis |
| HP:0005588 | Patchy palmoplantar keratoderma |
| HP:0010657 | Patchy reduction of bone mineral density |
| HP:0009551 | Patchy sclerosis of 2nd finger phalanx |
| HP:0010352 | Patchy sclerosis of 2nd toe phalanx |
| HP:0009444 | Patchy sclerosis of 3rd finger phalanx |
| HP:0010364 | Patchy sclerosis of 3rd toe phalanx |
| HP:0009406 | Patchy sclerosis of 4th finger phalanx |
| HP:0010376 | Patchy sclerosis of 4th toe phalanx |
| HP:0009377 | Patchy sclerosis of 5th finger phalanx |
| HP:0010388 | Patchy sclerosis of 5th toe phalanx |
| HP:0009840 | Patchy sclerosis of distal phalanx of finger |
| HP:0010190 | Patchy sclerosis of distal toe phalanx |
| HP:0009772 | Patchy sclerosis of finger phalanx |
| HP:0010063 | Patchy sclerosis of hallux phalanx |
| HP:0004286 | Patchy sclerosis of hand bones |
| HP:0009848 | Patchy sclerosis of middle phalanx of finger |
| HP:0010199 | Patchy sclerosis of middle toe phalanx |
| HP:0009856 | Patchy sclerosis of proximal phalanx of finger |
| HP:0010208 | Patchy sclerosis of proximal toe phalanx |
| HP:0004030 | Patchy sclerosis of radial diaphysis |
| HP:0010031 | Patchy sclerosis of the 1st metacarpal |
| HP:0010072 | Patchy sclerosis of the 1st metatarsal |
| HP:0009562 | Patchy sclerosis of the distal phalanx of the 2nd finger |
| HP:0010418 | Patchy sclerosis of the distal phalanx of the 2nd toe |
| HP:0009425 | Patchy sclerosis of the distal phalanx of the 3rd finger |
| HP:0100467 | Patchy sclerosis of the distal phalanx of the 3rd toe |
| HP:0009304 | Patchy sclerosis of the distal phalanx of the 4th finger |
| HP:0100468 | Patchy sclerosis of the distal phalanx of the 4th toe |
| HP:0009243 | Patchy sclerosis of the distal phalanx of the 5th finger |
| HP:0100469 | Patchy sclerosis of the distal phalanx of the 5th toe |
| HP:0010081 | Patchy sclerosis of the distal phalanx of the hallux |
| HP:0009646 | Patchy sclerosis of the distal phalanx of the thumb |
| HP:0009573 | Patchy sclerosis of the middle phalanx of the 2nd finger |
| HP:0010409 | Patchy sclerosis of the middle phalanx of the 2nd toe |
| HP:0009434 | Patchy sclerosis of the middle phalanx of the 3rd finger |
| HP:0100461 | Patchy sclerosis of the middle phalanx of the 3rd toe |
| HP:0009307 | Patchy sclerosis of the middle phalanx of the 4th finger |
| HP:0100462 | Patchy sclerosis of the middle phalanx of the 4th toe |
| HP:0009175 | Patchy sclerosis of the middle phalanx of the 5th finger |
| HP:0100463 | Patchy sclerosis of the middle phalanx of the 5th toe |
| HP:0009585 | Patchy sclerosis of the proximal phalanx of the 2nd finger |
| HP:0010400 | Patchy sclerosis of the proximal phalanx of the 2nd toe |
| HP:0009454 | Patchy sclerosis of the proximal phalanx of the 3rd finger |
| HP:0100464 | Patchy sclerosis of the proximal phalanx of the 3rd toe |
| HP:0009313 | Patchy sclerosis of the proximal phalanx of the 4th finger |
| HP:0100465 | Patchy sclerosis of the proximal phalanx of the 4th toe |
| HP:0009231 | Patchy sclerosis of the proximal phalanx of the 5th finger |
| HP:0100466 | Patchy sclerosis of the proximal phalanx of the 5th toe |
| HP:0010090 | Patchy sclerosis of the proximal phalanx of the hallux |
| HP:0009634 | Patchy sclerosis of the proximal phalanx of the thumb |
| HP:0009655 | Patchy sclerosis of thumb phalanx |
| HP:0010178 | Patchy sclerosis of toe phalanx |
| HP:0010659 | Patchy variation in bone mineral density |
| HP:0006443 | Patellar aplasia |
| HP:0002999 | Patellar dislocation |
| HP:0003065 | Patellar hypoplasia |
| HP:0010499 | Patellar subluxation |
| HP:0001643 | Patent ductus arteriosus |
| HP:0011648 | Patent ductus arteriosus after birth at term |
| HP:0011649 | Patent ductus arteriosus after premature birth |
| HP:0001655 | Patent foramen ovale |
| HP:0040124 | Patent tuba eustachii |
| HP:0010479 | Patent urachus |
| HP:0002756 | Pathologic fracture |
| HP:0007963 | Pattern dystrophy of the retina |
| HP:0007277 | Paucity of anterior horn motor neurons |
| HP:0000447 | Pear-shaped nose |
| HP:0004566 | Pear-shaped vertebrae |
| HP:0005258 | Pectoral muscle hypoplasia/aplasia |
| HP:0012037 | Pectoralis amyotrophy |
| HP:0008998 | Pectoralis hypoplasia |
| HP:0008953 | Pectoralis major hypoplasia |
| HP:0000768 | Pectus carinatum |
| HP:0000767 | Pectus excavatum |
| HP:0000915 | Pectus excavatum of inferior sternum |
| HP:0006423 | Peg-like central prominence of distal tibial metaphyses |
| HP:0006342 | Peg-shaped maxillary lateral incisors |
| HP:0010453 | Pelvic bone asymmetry |
| HP:0008946 | Pelvic girdle amyotrophy |
| HP:0008988 | Pelvic girdle muscle atrophy |
| HP:0003749 | Pelvic girdle muscle weakness |
| HP:0000125 | Pelvic kidney |
| HP:0012043 | Pendular nystagmus |
| HP:0001026 | Penetrating foot ulcers |
| HP:0003244 | Penile hypospadias |
| HP:0000808 | Penoscrotal hypospadias |
| HP:0100600 | Penoscrotal transposition |
| HP:0004398 | Peptic ulcer |
| HP:0010548 | Percussion myotonia |
| HP:0003760 | Percussion-induced rapid rolling muscle contractions |
| HP:0009789 | Perianal abscess |
| HP:0011131 | Perianal rash |
| HP:0000700 | Periapical radiolucency |
| HP:0030758 | Periapical tooth abscess |
| HP:0007470 | Periarticular subcutaneous nodules |
| HP:0100277 | Periauricular skin pits |
| HP:0025177 | Peribronchovascular interstitial thickening |
| HP:0005132 | Pericardial constriction |
| HP:0001698 | Pericardial effusion |
| HP:0005183 | Pericardial lymphangiectasia |
| HP:0001701 | Pericarditis |
| HP:0007947 | Pericentral retinitis pigmentosa |
| HP:0007761 | Pericentral scotoma |
| HP:0100296 | Perifascicular muscle fiber atrophy |
| HP:0030054 | Perifollicular fibrosis |
| HP:0007468 | Perifollicular hyperkeratosis |
| HP:0012322 | Perifolliculitis |
| HP:0030629 | Perifoveal ring of hyperautofluorescence |
| HP:0030634 | Perifoveal ring of hyperautofluorescence surrounded by abnormal autofluorescence |
| HP:0030633 | Perifoveal ring of hyperautofluorescence surrounded by normal autofluorescence |
| HP:0012782 | Perilobar nephrogenic rest |
| HP:0011682 | Perimembranous ventricular septal defect |
| HP:0004871 | Perineal fistula |
| HP:0000051 | Perineal hypospadias |
| HP:0012784 | Perinephritis |
| HP:0007215 | Periodic hyperkalemic paralysis |
| HP:0008153 | Periodic hypokalemic paresis |
| HP:0003768 | Periodic paralysis |
| HP:0000704 | Periodontitis |
| HP:0011127 | Perioral eczema |
| HP:0010802 | Perioral hyperpigmentation |
| HP:0030668 | Periorbital dermoid cyst |
| HP:0100539 | Periorbital edema |
| HP:0000629 | Periorbital fullness |
| HP:0001106 | Periorbital hyperpigmentation |
| HP:0000607 | Periorbital wrinkles |
| HP:0003931 | Periosteal new bone of humeral diaphysis |
| HP:0003878 | Periosteal new bone of humerus |
| HP:0006465 | Periosteal thickening of long tubular bones |
| HP:0040165 | Periostitis |
| HP:0030314 | Periostosis |
| HP:0007950 | Peripapillary chorioretinal atrophy |
| HP:0025093 | Peripapillary exudate |
| HP:0030172 | Peripheral amyelination |
| HP:0004950 | Peripheral arterial disease |
| HP:0004928 | Peripheral arterial stenosis |
| HP:0100784 | Peripheral arteriovenous fistula |
| HP:0005315 | Peripheral artery occlusive disease |
| HP:0003384 | Peripheral axonal atrophy |
| HP:0000764 | Peripheral axonal degeneration |
| HP:0003477 | Peripheral axonal neuropathy |
| HP:0011096 | Peripheral demyelination |
| HP:0003469 | Peripheral dysmyelination |
| HP:0012398 | Peripheral edema |
| HP:0030173 | Peripheral hypermyelination |
| HP:0007182 | Peripheral hypomyelination |
| HP:0003406 | Peripheral nerve compression |
| HP:0009830 | Peripheral neuropathy |
| HP:0008011 | Peripheral opacification of the cornea |
| HP:0004969 | Peripheral pulmonary artery stenosis |
| HP:0005316 | Peripheral pulmonary vessel aplasia |
| HP:0200070 | Peripheral retinal atrophy |
| HP:0007685 | Peripheral retinal avascularization |
| HP:0007782 | Peripheral retinal cone degeneration |
| HP:0007769 | Peripheral retinal degeneration |
| HP:0007929 | Peripheral retinal detachment |
| HP:0030667 | Peripheral retinal neovascularization |
| HP:0002641 | Peripheral thrombosis |
| HP:0007643 | Peripheral traction retinal detachment |
| HP:0030522 | Peripheral visual field constriction with >50 degrees central field preserved |
| HP:0030527 | Peripheral visual field constriction with <10 degrees central field preserved |
| HP:0030526 | Peripheral visual field constriction with 10-20 degrees central field preserved |
| HP:0030525 | Peripheral visual field constriction with 20-30 degrees central field preserved |
| HP:0030524 | Peripheral visual field constriction with 30-40 degrees central field preserved |
| HP:0030523 | Peripheral visual field constriction with 40-50 degrees central field preserved |
| HP:0007994 | Peripheral visual field loss |
| HP:0200071 | Peripheral vitreoretinal degeneration |
| HP:0007710 | Peripheral vitreous opacities |
| HP:0001405 | Periportal fibrosis |
| HP:0030171 | Perirenal hematoma |
| HP:0012650 | Perisylvian polymicrogyria |
| HP:0100592 | Peritoneal abscess |
| HP:0002586 | Peritonitis |
| HP:0012520 | Perivascular spaces |
| HP:0007109 | Periventricular cysts |
| HP:0007165 | Periventricular gray matter heterotopia |
| HP:0006970 | Periventricular leukomalacia |
| HP:0030891 | Periventricular white matter hyperdensities |
| HP:0012794 | Periventricular white matter hypodensities |
| HP:0004754 | Permanent atrial fibrillation |
| HP:0011690 | Permanent junctional reciprocating tachycardia |
| HP:0009828 | Peromelia |
| HP:0009049 | Peroneal muscle atrophy |
| HP:0011727 | Peroneal muscle weakness |
| HP:0030223 | Perseveration |
| HP:0011904 | Persistence of hemoglobin F |
| HP:0006335 | Persistence of primary teeth |
| HP:0001934 | Persistent bleeding after trauma |
| HP:0012621 | Persistent cloaca |
| HP:0011726 | Persistent fetal circulation |
| HP:0004898 | Persistent lactic acidosis |
| HP:0005301 | Persistent left superior vena cava |
| HP:0004474 | Persistent open anterior fontanelle |
| HP:0012021 | Persistent patent ductus venosus |
| HP:0009917 | Persistent pupillary membrane |
| HP:0011475 | Persistent stapedial artery |
| HP:0000751 | Personality changes |
| HP:0012075 | Personality disorder |
| HP:0001761 | Pes cavus |
| HP:0001763 | Pes planus |
| HP:0008081 | Pes valgus |
| HP:0000967 | Petechiae |
| HP:0000659 | Peters anomaly |
| HP:0012629 | Phacodonesis |
| HP:0006243 | Phalangeal dislocation |
| HP:0011855 | Pharyngeal edema |
| HP:0000118 | Phenotypic abnormality |
| HP:0004920 | Phenylpyruvic acidemia |
| HP:0011826 | Philtrum with midline raphe |
| HP:0001741 | Phimosis |
| HP:0009829 | Phocomelia |
| HP:0100035 | Phonic tics |
| HP:0002183 | Phonophobia |
| HP:0003239 | Phosphoethanolaminuria |
| HP:0001327 | Photomyoclonic seizures |
| HP:0000613 | Photophobia |
| HP:0030786 | Photopsia |
| HP:0030609 | Photoreceptor layer loss on macular OCT |
| HP:0030610 | Photoreceptor outer segment loss on macular OCT |
| HP:0007207 | Photosensitive tonic-clonic seizures |
| HP:0000667 | Phthisis bulbi |
| HP:0011856 | Pica |
| HP:0007544 | Piebaldism |
| HP:0000201 | Pierre-Robin sequence |
| HP:0012631 | Pigment deposition in the trabecular meshwork |
| HP:0011981 | Pigment gallstones |
| HP:0001146 | Pigmentary retinal degeneration |
| HP:0007702 | Pigmentary retinal deposits |
| HP:0000580 | Pigmentary retinopathy |
| HP:0007623 | Pigmentation anomalies of sun-exposed skin |
| HP:0007832 | Pigmentation of the sclera |
| HP:0001580 | Pigmented micronodular adrenocortical disease |
| HP:0002235 | Pili canaliculi |
| HP:0003777 | Pili torti |
| HP:0010771 | Pilonidal abscess |
| HP:0010770 | Pilonidal fistula |
| HP:0010769 | Pilonidal sinus |
| HP:0012683 | Pineal cyst |
| HP:0012682 | Pineal gland calcification |
| HP:0030569 | Pinhole visual acuity 0.1 LogMAR |
| HP:0030570 | Pinhole visual acuity 0.2 LogMAR |
| HP:0030571 | Pinhole visual acuity 0.3 LogMAR |
| HP:0030572 | Pinhole visual acuity 0.4 LogMAR |
| HP:0030573 | Pinhole visual acuity 0.5 LogMAR |
| HP:0030574 | Pinhole visual acuity 0.6 LogMAR |
| HP:0030575 | Pinhole visual acuity 0.7 LogMAR |
| HP:0030576 | Pinhole visual acuity 0.8 LogMAR |
| HP:0030577 | Pinhole visual acuity 0.9 LogMAR |
| HP:0030578 | Pinhole visual acuity 1.0 LogMAR |
| HP:0030579 | Pinhole visual acuity 1.1 LogMAR |
| HP:0030580 | Pinhole visual acuity 1.2 LogMAR |
| HP:0030581 | Pinhole visual acuity 1.3 LogMAR |
| HP:0030582 | Pinhole visual acuity 2.0 LogMAR |
| HP:0030583 | Pinhole visual acuity 3.0 LogMAR |
| HP:0011754 | Pituicytoma |
| HP:0010513 | Pituitary calcification |
| HP:0000839 | Pituitary dwarfism |
| HP:0008245 | Pituitary hypothyroidism |
| HP:0008227 | Pituitary resistance to thyroid hormone |
| HP:0011419 | Placental abruption |
| HP:0011416 | Placental infarction |
| HP:0025110 | Placoid macular lesion |
| HP:0001357 | Plagiocephaly |
| HP:0008107 | Plantar crease between first and second toes |
| HP:0008112 | Plantar flexion contractures |
| HP:0007556 | Plantar hyperkeratosis |
| HP:0010612 | Plantar pits |
| HP:0100870 | Plantar telangiectasia |
| HP:0030150 | Plasmacytosis |
| HP:0003454 | Platelet antibody positive |
| HP:0040175 | Platelet-activating factor acetylhydrolase deficiency |
| HP:0030803 | Platonychia |
| HP:0002691 | Platybasia |
| HP:0000926 | Platyspondyly |
| HP:0001050 | Plethora |
| HP:0002202 | Pleural effusion |
| HP:0011919 | Pleural empyema |
| HP:0006531 | Pleural lymphangiectasia |
| HP:0002102 | Pleuritis |
| HP:0002090 | Pneumonia |
| HP:0002107 | Pneumothorax |
| HP:0001854 | Podagra |
| HP:0004447 | Poikilocytosis |
| HP:0001029 | Poikiloderma |
| HP:0000307 | Pointed chin |
| HP:0004544 | Pointed frontal hairline |
| HP:0004287 | Pointed hand bones |
| HP:0100810 | Pointed helix |
| HP:0003917 | Pointed humeral metaphysis |
| HP:0001223 | Pointed proximal second through fifth metacarpals |
| HP:0003990 | Pointed ulna |
| HP:0004044 | Pointed ulnar metaphysis |
| HP:0010696 | Polar cataract |
| HP:0002290 | Poliosis |
| HP:0100515 | Pollakisuria |
| HP:0005764 | Polyarticular arthritis |
| HP:0005195 | Polyarticular arthropathy |
| HP:0005017 | Polyarticular chondrocalcinosis |
| HP:0025360 | Polycalycosis |
| HP:0003459 | Polyclonal elevation of IgM |
| HP:0011500 | Polycoria |
| HP:0000113 | Polycystic kidney dysplasia |
| HP:0006557 | Polycystic liver disease |
| HP:0000147 | Polycystic ovaries |
| HP:0001901 | Polycythemia |
| HP:0010442 | Polydactyly |
| HP:0009946 | Polydactyly affecting the 2nd finger |
| HP:0010328 | Polydactyly affecting the 2nd toe |
| HP:0009958 | Polydactyly affecting the 3rd finger |
| HP:0010334 | Polydactyly affecting the 3rd toe |
| HP:0009971 | Polydactyly affecting the 4th finger |
| HP:0010340 | Polydactyly affecting the 4th toe |
| HP:0001959 | Polydipsia |
| HP:0025359 | Polygonal renal calices |
| HP:0001561 | Polyhydramnios |
| HP:0400007 | Polymenorrhea |
| HP:0002126 | Polymicrogyria |
| HP:0006821 | Polymicrogyria, anterior to posterior gradient |
| HP:0006696 | Polymorphic and polytopic ventricular extrasystoles |
| HP:0011192 | Polymorphic focal epileptiform discharges |
| HP:0007915 | Polymorphous posterior corneal dystrophy |
| HP:0001271 | Polyneuropathy |
| HP:0010735 | Polyostotic fibrous dysplasia |
| HP:0100687 | Polyotia |
| HP:0002591 | Polyphagia |
| HP:0001748 | Polysplenia |
| HP:0005873 | Polysyndactyly of hallux |
| HP:0000103 | Polyuria |
| HP:0006879 | Pontocerebellar atrophy |
| HP:0004396 | Poor appetite |
| HP:0002370 | Poor coordination |
| HP:0000817 | Poor eye contact |
| HP:0007010 | Poor fine motor coordination |
| HP:0007015 | Poor gross motor coordination |
| HP:0007057 | Poor hand-eye coordination |
| HP:0002421 | Poor head control |
| HP:0002275 | Poor motor coordination |
| HP:0002465 | Poor speech |
| HP:0002033 | Poor suck |
| HP:0025152 | Poor visual behavior for age |
| HP:0001058 | Poor wound healing |
| HP:0007027 | Poorly formed metencephalon |
| HP:0008477 | Poorly ossified cervical vertebrae |
| HP:0100856 | Poorly ossified vertebrae |
| HP:0009756 | Popliteal pterygium |
| HP:0002132 | Porencephaly |
| HP:0200044 | Porokeratosis |
| HP:0010473 | Porphyrinuria |
| HP:0006580 | Portal fibrosis |
| HP:0001409 | Portal hypertension |
| HP:0030242 | Portal vein thrombosis |
| HP:0025154 | Portosystemic collateral veins |
| HP:0005656 | Positional foot deformity |
| HP:0003612 | Positive ferric chloride test |
| HP:0003574 | Positive regitine blocking test |
| HP:0002403 | Positive Romberg sign |
| HP:0004761 | Post-angioplasty coronary artery restenosis |
| HP:0011891 | Post-partum hemorrhage |
| HP:0004813 | Post-transfusion thrombocytopenia |
| HP:0004464 | Postauricular pit |
| HP:0004451 | Postauricular skin tag |
| HP:0001830 | Postaxial foot polydactyly |
| HP:0001162 | Postaxial hand polydactyly |
| HP:0006210 | Postaxial oligodactyly |
| HP:0100259 | Postaxial polydactyly |
| HP:0005696 | Postaxial polydactyly type A |
| HP:0005817 | Postaxial polysyndactyly of foot |
| HP:0011647 | Postductal coarctation of the aorta |
| HP:0100020 | Posterior capsular cataract |
| HP:0012495 | Posterior cerebral artery stenosis |
| HP:0004496 | Posterior choanal atresia |
| HP:0010924 | Posterior cortical cataract |
| HP:0000627 | Posterior embryotoxon |
| HP:0007291 | Posterior fossa cyst |
| HP:0000933 | Posterior fossa cyst at the fourth ventricle |
| HP:0005626 | Posterior fusion of lumbosacral vertebrae |
| HP:0008523 | Posterior helix pit |
| HP:0011502 | Posterior lenticonus |
| HP:0006859 | Posterior leukoencephalopathy |
| HP:0006783 | Posterior pharyngeal cleft |
| HP:0011756 | Posterior pituitary agenesis |
| HP:0011753 | Posterior pituitary dysgenesis |
| HP:0011757 | Posterior pituitary hypoplasia |
| HP:0011327 | Posterior plagiocephaly |
| HP:0001115 | Posterior polar cataract |
| HP:0005798 | Posterior radial head dislocation |
| HP:0007778 | Posterior retinal neovascularization |
| HP:0000922 | Posterior rib cupping |
| HP:0000913 | Posterior rib fusion |
| HP:0030282 | Posterior rib gap |
| HP:0005121 | Posterior scalloping of vertebral bodies |
| HP:0030856 | Posterior staphyloma |
| HP:0007787 | Posterior subcapsular cataract |
| HP:0005739 | Posterior subluxation of radial head |
| HP:0011484 | Posterior synechiae of the anterior chamber |
| HP:0012123 | Posterior uveitis |
| HP:0008451 | Posterior vertebral hypoplasia |
| HP:0001489 | Posterior vitreous detachment |
| HP:0008444 | Posterior wedging of vertebral bodies |
| HP:0008031 | Posterior Y-sutural cataract |
| HP:0003984 | Posteriorly dislocated ulna |
| HP:0012890 | Posteriorly placed anus |
| HP:0009087 | Posteriorly placed tongue |
| HP:0000358 | Posteriorly rotated ears |
| HP:0025193 | Posterolateral diaphragmatic hernia |
| HP:0008596 | Postlingual sensorineural hearing impairment |
| HP:0010879 | Postnatal cystic hygroma |
| HP:0008897 | Postnatal growth retardation |
| HP:0005490 | Postnatal macrocephaly |
| HP:0005484 | Postnatal microcephaly |
| HP:0007395 | Postnatal-onset ichthyosiform erythroderma |
| HP:0011998 | Postprandial hyperglycemia |
| HP:0011997 | Postprandial hyperlactemia |
| HP:0005307 | Postural hypotension with compensatory tachycardia |
| HP:0002172 | Postural instability |
| HP:0002174 | Postural tremor |
| HP:0002009 | Potter facies |
| HP:0004467 | Preauricular pit |
| HP:0004450 | Preauricular skin furrow |
| HP:0000384 | Preauricular skin tag |
| HP:0001841 | Preaxial foot polydactyly |
| HP:0001177 | Preaxial hand polydactyly |
| HP:0100258 | Preaxial polydactyly |
| HP:0004416 | Precocious atherosclerosis |
| HP:0006607 | Precocious costochondral ossification |
| HP:0100805 | Precocious menopause |
| HP:0000826 | Precocious puberty |
| HP:0010465 | Precocious puberty in females |
| HP:0008185 | Precocious puberty in males |
| HP:0003550 | Predominantly lower limb lymphedema |
| HP:0005151 | Preductal coarctation of the aorta |
| HP:0100602 | Preeclampsia |
| HP:0012659 | Prefrontal hypometabolism in FDG PET |
| HP:0000399 | Prelingual sensorineural hearing impairment |
| HP:0012412 | Premature adrenarche |
| HP:0008491 | Premature anterior fontanel closure |
| HP:0005177 | Premature arteriosclerosis |
| HP:0006699 | Premature atrial contractions |
| HP:0001622 | Premature birth |
| HP:0005100 | Premature birth following premature rupture of fetal membranes |
| HP:0005136 | Premature calcification of mitral annulus |
| HP:0200024 | Premature chromatid separation |
| HP:0005458 | Premature closure of fontanelles |
| HP:0005181 | Premature coronary artery disease |
| HP:0005267 | Premature delivery because of cervical insufficiency or membrane fragility |
| HP:0012876 | Premature ejaculation |
| HP:0010588 | Premature epimetaphyseal fusion |
| HP:0012565 | Premature epimetaphyseal fusion in fibula |
| HP:0012563 | Premature epimetaphyseal fusion in foot |
| HP:0012562 | Premature epimetaphyseal fusion in hand |
| HP:0012566 | Premature epimetaphyseal fusion in radius |
| HP:0012564 | Premature epimetaphyseal fusion in tibia |
| HP:0012567 | Premature epimetaphyseal fusion in ulna |
| HP:0006337 | Premature eruption of permanent teeth |
| HP:0006140 | Premature fusion of phalangeal epiphyses |
| HP:0004012 | Premature fusion of the radial epiphyseal plates |
| HP:0004771 | Premature graying of body hair |
| HP:0002216 | Premature graying of hair |
| HP:0006357 | Premature loss of permanent teeth |
| HP:0006323 | Premature loss of primary teeth |
| HP:0006480 | Premature loss of teeth |
| HP:0005297 | Premature occlusive vascular disease |
| HP:0003088 | Premature osteoarthritis |
| HP:0008209 | Premature ovarian failure |
| HP:0005494 | Premature posterior fontanelle closure |
| HP:0012411 | Premature pubarche |
| HP:0001788 | Premature rupture of membranes |
| HP:0003616 | Premature separation of centromeric heterochromatin |
| HP:0100678 | Premature skin wrinkling |
| HP:0006590 | Premature sternal synostosis |
| HP:0010314 | Premature thelarche |
| HP:0007495 | Prematurely aged appearance |
| HP:0002686 | Prenatal maternal abnormality |
| HP:0001557 | Prenatal movement abnormality |
| HP:0025240 | Preretinal hemorrhage |
| HP:0007819 | Presenile cataracts |
| HP:0012399 | Pressure ulcer |
| HP:0030747 | Preterm intraventricular hemorrhage |
| HP:0011963 | Pretesticular azoospermia |
| HP:0012221 | Pretibial blistering |
| HP:0200028 | Pretibial myxedema |
| HP:0030024 | Pretragal ectopia |
| HP:0200023 | Priapism |
| HP:0008207 | Primary adrenal insufficiency |
| HP:0000786 | Primary amenorrhea |
| HP:0012109 | Primary angle closure glaucoma |
| HP:0001692 | Primary atrial arrhythmia |
| HP:0030363 | Primary Caesarian section |
| HP:0008007 | Primary congenital glaucoma |
| HP:0008193 | Primary gonadal insufficiency |
| HP:0011736 | Primary hyperaldosteronism |
| HP:0001579 | Primary hypercorticolism |
| HP:0008200 | Primary hyperparathyroidism |
| HP:0000832 | Primary hypothyroidism |
| HP:0012108 | Primary open angle glaucoma |
| HP:0001587 | Primary ovarian failure |
| HP:0005402 | Primary T-lymphocyte immune abnormalities |
| HP:0008720 | Primary testicular failure |
| HP:0002476 | Primitive reflex |
| HP:0010445 | Primum atrial septal defect |
| HP:0012806 | Proboscis |
| HP:0012736 | Profound global developmental delay |
| HP:0012715 | Profound hearing impairment |
| HP:0011476 | Profound sensorineural hearing impairment |
| HP:0007069 | Profound static encephalopathy |
| HP:0005587 | Profuse pigmented skin lesions |
| HP:0005328 | Progeroid facial appearance |
| HP:0002287 | Progressive alopecia |
| HP:0009092 | Progressive alveolar ridge hypertropy |
| HP:0006383 | Progressive bowing of long bones |
| HP:0006600 | Progressive calcification of costochondral cartilage |
| HP:0007834 | Progressive cataract |
| HP:0002073 | Progressive cerebellar ataxia |
| HP:0008449 | Progressive cervical vertebral spine fusion |
| HP:0007326 | Progressive choreoathetosis |
| HP:0000905 | Progressive clavicular acroosteolysis |
| HP:0008607 | Progressive conductive hearing impairment |
| HP:0008020 | Progressive cone degeneration |
| HP:0008458 | Progressive congenital scoliosis |
| HP:0009063 | Progressive distal muscle weakness |
| HP:0008955 | Progressive distal muscular atrophy |
| HP:0002448 | Progressive encephalopathy |
| HP:0000590 | Progressive external ophthalmoplegia |
| HP:0007153 | Progressive extrapyramidal movement disorder |
| HP:0007158 | Progressive extrapyramidal muscular rigidity |
| HP:0005876 | Progressive flexion contractures |
| HP:0005891 | Progressive forearm bowing |
| HP:0007017 | Progressive forgetfulness |
| HP:0006147 | Progressive fusion 2nd-5th pip joints |
| HP:0007240 | Progressive gait ataxia |
| HP:0001730 | Progressive hearing impairment |
| HP:0007505 | Progressive hyperpigmentation |
| HP:0002296 | Progressive hypotrichosis |
| HP:0002505 | Progressive inability to walk |
| HP:0005951 | Progressive inspiratory stridor |
| HP:0004622 | Progressive intervertebral space narrowing |
| HP:0005187 | Progressive joint destruction |
| HP:0007064 | Progressive language deterioration |
| HP:0006409 | Progressive leg bowing |
| HP:0006980 | Progressive leukoencephalopathy |
| HP:0009019 | Progressive loss of facial adipose tissue |
| HP:0004481 | Progressive macrocephaly |
| HP:0000253 | Progressive microcephaly |
| HP:0003323 | Progressive muscle weakness |
| HP:0002344 | Progressive neurologic deterioration |
| HP:0007675 | Progressive night blindness |
| HP:0007650 | Progressive ophthalmoplegia |
| HP:0007133 | Progressive peripheral neuropathy |
| HP:0008075 | Progressive pes cavus |
| HP:0009073 | Progressive proximal muscle weakness |
| HP:0007272 | Progressive psychomotor deterioration |
| HP:0007838 | Progressive ptosis |
| HP:0006520 | Progressive pulmonary function impairment |
| HP:0007456 | Progressive reticulate hyperpigmentation |
| HP:0007893 | Progressive retinal degeneration |
| HP:0005477 | Progressive sclerosis of skull base |
| HP:0000408 | Progressive sensorineural hearing impairment |
| HP:0007199 | Progressive spastic paraparesis |
| HP:0007020 | Progressive spastic paraplegia |
| HP:0002478 | Progressive spastic quadriplegia |
| HP:0002191 | Progressive spasticity |
| HP:0009067 | Progressive spinal muscular atrophy |
| HP:0007221 | Progressive truncal ataxia |
| HP:0007100 | Progressive ventriculomegaly |
| HP:0007987 | Progressive visual field defects |
| HP:0000529 | Progressive visual loss |
| HP:0005602 | Progressive vitiligo |
| HP:0002587 | Projectile vomiting |
| HP:0009554 | Projection of scalp hair onto lateral cheek |
| HP:0008202 | Prolactin deficiency |
| HP:0000870 | Prolactin excess |
| HP:0003137 | Prolinuria |
| HP:0006298 | Prolonged bleeding after dental extraction |
| HP:0004846 | Prolonged bleeding after surgery |
| HP:0030137 | Prolonged bleeding following circumcision |
| HP:0011890 | Prolonged bleeding following procedure |
| HP:0003010 | Prolonged bleeding time |
| HP:0004466 | Prolonged brainstem auditory evoked potentials |
| HP:0040243 | Prolonged euglobulin clot lysis time |
| HP:0003214 | Prolonged G2 phase of cell cycle |
| HP:0003436 | Prolonged miniature endplate currents |
| HP:0006579 | Prolonged neonatal jaundice |
| HP:0003645 | Prolonged partial thromboplastin time |
| HP:0012248 | Prolonged PR interval |
| HP:0008151 | Prolonged prothrombin time |
| HP:0006677 | Prolonged QRS complex |
| HP:0001657 | Prolonged QT interval |
| HP:0005184 | Prolonged QTc interval |
| HP:0040244 | Prolonged Russell's viper venom time |
| HP:0007104 | Prolonged somatosensory evoked potentials |
| HP:0005542 | Prolonged whole-blood clotting time |
| HP:0010759 | Prominence of the premaxilla |
| HP:0012370 | Prominence of the zygomatic bone |
| HP:0000395 | Prominent antihelix |
| HP:0008593 | Prominent antitragus |
| HP:0012428 | Prominent calcaneus |
| HP:0040016 | Prominent coccyx |
| HP:0010726 | Prominent corneal nerve fibers |
| HP:0009899 | Prominent crus of helix |
| HP:0003890 | Prominent deltoid tuberosities |
| HP:0011298 | Prominent digit pad |
| HP:0009904 | Prominent ear helix |
| HP:0007930 | Prominent epicanthal folds |
| HP:0011231 | Prominent eyelashes |
| HP:0001212 | Prominent fingertip pads |
| HP:0006641 | Prominent floating ribs |
| HP:0011220 | Prominent forehead |
| HP:0005478 | Prominent frontal sinuses |
| HP:0002057 | Prominent glabella |
| HP:0011238 | Prominent inferior crus of antihelix |
| HP:0006189 | Prominent interdigital folds |
| HP:0006237 | Prominent interphalangeal joints |
| HP:0002708 | Prominent median palatal raphe |
| HP:0005487 | Prominent metopic ridge |
| HP:0000426 | Prominent nasal bridge |
| HP:0005322 | Prominent nasal septum |
| HP:0005274 | Prominent nasal tip |
| HP:0005272 | Prominent nasolabial fold |
| HP:0004405 | Prominent nipples |
| HP:0000448 | Prominent nose |
| HP:0000269 | Prominent occiput |
| HP:0010291 | Prominent palatine ridges |
| HP:0006157 | Prominent palmar flexion creases |
| HP:0008742 | Prominent prostate median bar |
| HP:0008472 | Prominent protruding coccyx |
| HP:0006167 | Prominent proximal interphalangeal joints |
| HP:0001043 | Prominent scalp veins |
| HP:0003246 | Prominent scrotal raphe |
| HP:0011240 | Prominent stem of antihelix |
| HP:0000884 | Prominent sternum |
| HP:0004981 | Prominent styloid process of ulna |
| HP:0007394 | Prominent superficial blood vessels |
| HP:0001015 | Prominent superficial veins |
| HP:0011247 | Prominent superior crus of antihelix |
| HP:0004676 | Prominent supraorbital arches in adult |
| HP:0000336 | Prominent supraorbital ridges |
| HP:0011271 | Prominent tragus |
| HP:0025072 | Prominent U wave |
| HP:0001544 | Prominent umbilicus |
| HP:0007457 | Prominent veins on trunk |
| HP:0100893 | Prominent xiphoid process |
| HP:0003571 | Propionicacidemia |
| HP:0003353 | Propionyl-CoA carboxylase deficiency |
| HP:0003508 | Proportionate short stature |
| HP:0006165 | Proportionate shortening of all digits |
| HP:0011407 | Proportionate tall stature |
| HP:0000520 | Proptosis |
| HP:0010528 | Prosopagnosia |
| HP:0012125 | Prostate cancer |
| HP:0100787 | Prostate neoplasm |
| HP:0000024 | Prostatitis |
| HP:0200018 | Protanomaly |
| HP:0011522 | Protanopia |
| HP:0002038 | Protein avoidance |
| HP:0002243 | Protein-losing enteropathy |
| HP:0000093 | Proteinuria |
| HP:0004385 | Protracted diarrhea |
| HP:0040017 | Protruding coccyx |
| HP:0000411 | Protruding ear |
| HP:0010808 | Protruding tongue |
| HP:0003179 | Protrusio acetabuli |
| HP:0003105 | Protuberances at ends of long bones |
| HP:0001538 | Protuberant abdomen |
| HP:0007126 | Proximal amyotrophy |
| HP:0004403 | Proximal esophageal atresia |
| HP:0006461 | Proximal femoral epiphysiolysis |
| HP:0030772 | Proximal femoral focal deficiency |
| HP:0006431 | Proximal femoral metaphyseal abnormality |
| HP:0003411 | Proximal femoral metaphyseal irregularity |
| HP:0005067 | Proximal fibular overgrowth |
| HP:0005190 | Proximal finger joint hyperextensibility |
| HP:0100237 | Proximal foot symphalangism |
| HP:0005043 | Proximal humeral metaphyseal irregularity |
| HP:0007066 | Proximal limb muscle stiffness |
| HP:0008956 | Proximal lower limb amyotrophy |
| HP:0003701 | Proximal muscle weakness |
| HP:0008994 | Proximal muscle weakness in lower limbs |
| HP:0008997 | Proximal muscle weakness in upper limbs |
| HP:0006175 | Proximal phalangeal periosteal thickening |
| HP:0011926 | Proximal placement of hallux |
| HP:0009623 | Proximal placement of thumb |
| HP:0005070 | Proximal radial head dislocation |
| HP:0005037 | Proximal radio-ulnar synostosis |
| HP:0002049 | Proximal renal tubular acidosis |
| HP:0006959 | Proximal spinal muscular atrophy |
| HP:0100264 | Proximal symphalangism |
| HP:0006152 | Proximal symphalangism of hands |
| HP:0006119 | Proximal tapering of metacarpals |
| HP:0005892 | Proximal tibial and fibular fusion |
| HP:0006379 | Proximal tibial hypoplasia |
| HP:0000114 | Proximal tubulopathy |
| HP:0008948 | Proximal upper limb amyotrophy |
| HP:0040266 | Proximal upper limb muscle hypertrophy |
| HP:0100489 | Proximal/middle symphalangism of 2nd toe |
| HP:0009482 | Proximal/middle symphalangism of 3rd finger |
| HP:0100480 | Proximal/middle symphalangism of 3rd toe |
| HP:0009477 | Proximal/middle symphalangism of 4th finger |
| HP:0100481 | Proximal/middle symphalangism of 4th toe |
| HP:0009177 | Proximal/middle symphalangism of 5th finger |
| HP:0100482 | Proximal/middle symphalangism of 5th toe |
| HP:0009579 | Proximal/middle symphalangism of the 2nd finger |
| HP:0004239 | Proximally placed carpal bones |
| HP:0004250 | Proximally placed lunate |
| HP:0004392 | Prune belly |
| HP:0030898 | Pruritis on abdomen |
| HP:0030901 | Pruritis on breast |
| HP:0030899 | Pruritis on hand |
| HP:0000989 | Pruritus |
| HP:0030900 | Pruritus on foot |
| HP:0025356 | Pschomotor retardation |
| HP:0003965 | Pseudarthrosis of the forearm bones |
| HP:0003980 | Pseudarthrosis of the radius |
| HP:0100036 | Pseudo-fractures |
| HP:0005864 | Pseudoarthrosis |
| HP:0002193 | Pseudobulbar behavioral symptoms |
| HP:0007024 | Pseudobulbar paralysis |
| HP:0002200 | Pseudobulbar signs |
| HP:0005295 | Pseudocoarctation of the aorta |
| HP:0010584 | Pseudoepiphyses |
| HP:0004288 | Pseudoepiphyses of hand bones |
| HP:0006179 | Pseudoepiphyses of second metacarpal |
| HP:0009495 | Pseudoepiphyses of the 2nd finger |
| HP:0100051 | Pseudoepiphyses of the 2nd toe |
| HP:0009417 | Pseudoepiphyses of the 3rd finger |
| HP:0100062 | Pseudoepiphyses of the 3rd toe |
| HP:0009400 | Pseudoepiphyses of the 4th finger |
| HP:0100073 | Pseudoepiphyses of the 4th toe |
| HP:0009389 | Pseudoepiphyses of the 5th finger |
| HP:0100084 | Pseudoepiphyses of the 5th toe |
| HP:0010253 | Pseudoepiphyses of the distal phalanges of the hand |
| HP:0010120 | Pseudoepiphyses of the hallux |
| HP:0009193 | Pseudoepiphyses of the metacarpals |
| HP:0010264 | Pseudoepiphyses of the middle phalanges of the hand |
| HP:0010235 | Pseudoepiphyses of the phalanges of the hand |
| HP:0010275 | Pseudoepiphyses of the proximal phalanges of the hand |
| HP:0010169 | Pseudoepiphyses of the toes |
| HP:0010022 | Pseudoepiphysis of the 1st metacarpal |
| HP:0010156 | Pseudoepiphysis of the 1st metatarsal |
| HP:0010221 | Pseudoepiphysis of the 2nd metacarpal |
| HP:0010223 | Pseudoepiphysis of the 3rd metacarpal |
| HP:0010225 | Pseudoepiphysis of the 4th metacarpal |
| HP:0010227 | Pseudoepiphysis of the 5th metacarpal |
| HP:0009509 | Pseudoepiphysis of the distal phalanx of the 2nd finger |
| HP:0100107 | Pseudoepiphysis of the distal phalanx of the 2nd toe |
| HP:0009342 | Pseudoepiphysis of the distal phalanx of the 3rd finger |
| HP:0100142 | Pseudoepiphysis of the distal phalanx of the 3rd toe |
| HP:0009257 | Pseudoepiphysis of the distal phalanx of the 4th finger |
| HP:0100176 | Pseudoepiphysis of the distal phalanx of the 4th toe |
| HP:0009188 | Pseudoepiphysis of the distal phalanx of the 5th finger |
| HP:0100209 | Pseudoepiphysis of the distal phalanx of the 5th toe |
| HP:0010145 | Pseudoepiphysis of the distal phalanx of the hallux |
| HP:0009682 | Pseudoepiphysis of the distal phalanx of the thumb |
| HP:0009520 | Pseudoepiphysis of the middle phalanx of the 2nd finger |
| HP:0100118 | Pseudoepiphysis of the middle phalanx of the 2nd toe |
| HP:0009328 | Pseudoepiphysis of the middle phalanx of the 3rd finger |
| HP:0100153 | Pseudoepiphysis of the middle phalanx of the 3rd toe |
| HP:0009221 | Pseudoepiphysis of the middle phalanx of the 4th finger |
| HP:0100187 | Pseudoepiphysis of the middle phalanx of the 4th toe |
| HP:0009210 | Pseudoepiphysis of the middle phalanx of the 5th finger |
| HP:0100220 | Pseudoepiphysis of the middle phalanx of the 5th toe |
| HP:0009531 | Pseudoepiphysis of the proximal phalanx of the 2nd finger |
| HP:0100129 | Pseudoepiphysis of the proximal phalanx of the 2nd toe |
| HP:0009353 | Pseudoepiphysis of the proximal phalanx of the 3rd finger |
| HP:0100164 | Pseudoepiphysis of the proximal phalanx of the 3rd toe |
| HP:0009268 | Pseudoepiphysis of the proximal phalanx of the 4th finger |
| HP:0100198 | Pseudoepiphysis of the proximal phalanx of the 4th toe |
| HP:0009200 | Pseudoepiphysis of the proximal phalanx of the 5th finger |
| HP:0100231 | Pseudoepiphysis of the proximal phalanx of the 5th toe |
| HP:0010134 | Pseudoepiphysis of the proximal phalanx of the hallux |
| HP:0009671 | Pseudoepiphysis of the proximal phalanx of the thumb |
| HP:0009693 | Pseudoepiphysis of the thumb |
| HP:0012627 | Pseudoexfoliation |
| HP:0008242 | Pseudohypoaldosteronism |
| HP:0000852 | Pseudohypoparathyroidism |
| HP:0000538 | Pseudopapilledema |
| HP:0003765 | Psoriasis |
| HP:0011162 | Psychic auras |
| HP:0002361 | Psychomotor deterioration |
| HP:0000709 | Psychosis |
| HP:0000725 | Psychotic episodes |
| HP:0001345 | Psychotic mentation |
| HP:0001059 | Pterygium |
| HP:0002165 | Pterygium of nails |
| HP:0000508 | Ptosis |
| HP:0008647 | Pubertal developmental failure in females |
| HP:0008373 | Puberty and gonadal disorders |
| HP:0000339 | Pugilistic facies |
| HP:0002092 | Pulmonary arterial hypertension |
| HP:0004964 | Pulmonary arterial medial hypertrophy |
| HP:0004952 | Pulmonary arteriovenous fistulas |
| HP:0006548 | Pulmonary arteriovenous malformation |
| HP:0004937 | Pulmonary artery aneurysm |
| HP:0004935 | Pulmonary artery atresia |
| HP:0004927 | Pulmonary artery dilatation |
| HP:0004971 | Pulmonary artery hypoplasia |
| HP:0004961 | Pulmonary artery sling |
| HP:0004415 | Pulmonary artery stenosis |
| HP:0005308 | Pulmonary artery vasoconstriction |
| HP:0005312 | Pulmonary aterial intimal fibrosis |
| HP:0100598 | Pulmonary edema |
| HP:0002204 | Pulmonary embolism |
| HP:0002206 | Pulmonary fibrosis |
| HP:0030250 | Pulmonary granulomatosis |
| HP:0002089 | Pulmonary hypoplasia |
| HP:0002113 | Pulmonary infiltrates |
| HP:0010444 | Pulmonary insufficiency |
| HP:0006521 | Pulmonary lymphangiectasia |
| HP:0100632 | Pulmonary sequestration |
| HP:0011617 | Pulmonary situs ambiguus |
| HP:0011619 | Pulmonary situs ambiguus with bilateral morphologic left lungs |
| HP:0011618 | Pulmonary situs ambiguus with bilateral morphologic right lungs |
| HP:0011616 | Pulmonary situs inversus |
| HP:0010882 | Pulmonary valve atresia |
| HP:0005148 | Pulmonary valve defects |
| HP:0030950 | Pulmonary venous hypertension |
| HP:0006518 | Pulmonary venous occlusion |
| HP:0001642 | Pulmonic stenosis |
| HP:0006691 | Pulmonic valve myxoma |
| HP:0003771 | Pulp stones |
| HP:0008629 | Pulsatile tinnitus |
| HP:0010693 | Pulverulent cataract |
| HP:0007648 | Punctate cataract |
| HP:0007809 | Punctate corneal dystrophy |
| HP:0000584 | Punctate corneal epithelial erosions |
| HP:0011859 | Punctate keratitis |
| HP:0007856 | Punctate opacification of the cornea |
| HP:0007508 | Punctate palmar hyperkeratosis |
| HP:0007530 | Punctate palmoplantar hyperkeratosis |
| HP:0030081 | Punctate periventricular T2 hyperintense foci |
| HP:0200030 | Punctate vasculitis skin lesions |
| HP:0008420 | Punctate vertebral calcifications |
| HP:0030218 | Punding |
| HP:0012410 | Pure red cell aplasia |
| HP:0000979 | Purpura |
| HP:0000205 | Pursed lips |
| HP:0200039 | Pustule |
| HP:0012330 | Pyelonephritis |
| HP:0002021 | Pyloric stenosis |
| HP:0000999 | Pyoderma |
| HP:0009758 | Pyramidal skinfold extending from the base to the top of the nails |
| HP:0005522 | Pyridoxine-responsive sideroblastic anemia |
| HP:0025011 | Pyriform aperture stenosis |
| HP:0003339 | Pyrimidine-responsive megaloblastic anemia |
| HP:0004839 | Pyropoikilocytosis |
| HP:0012085 | Pyuria |
| HP:0009788 | Quadriceps aplasia |
| HP:0009050 | Quadriceps muscle atrophy |
| HP:0003731 | Quadriceps muscle weakness |
| HP:0030023 | Quelprud Nodule |
| HP:0030022 | Question mark ear |
| HP:0000897 | Rachitic rosary |
| HP:0002986 | Radial bowing |
| HP:0004059 | Radial club hand |
| HP:0009466 | Radial deviation of finger |
| HP:0009467 | Radial deviation of the 2nd finger |
| HP:0009462 | Radial deviation of the 3rd finger |
| HP:0009279 | Radial deviation of the 4th finger |
| HP:0040020 | Radial deviation of the 5th finger |
| HP:0009486 | Radial deviation of the hand |
| HP:0009485 | Radial deviation of the hand or of fingers of the hand |
| HP:0040021 | Radial deviation of the thumb |
| HP:0005895 | Radial deviation of thumb terminal phalanx |
| HP:0003048 | Radial head subluxation |
| HP:0004019 | Radial metaphyseal irregularity |
| HP:0006190 | Radially deviated wrists |
| HP:0006439 | Radioulnar dislocation |
| HP:0002974 | Radioulnar synostosis |
| HP:0030808 | Ragged cuticle |
| HP:0003200 | Ragged-red muscle fibers |
| HP:0030830 | Rales |
| HP:0030706 | Ranula |
| HP:0007307 | Rapid neurologic deterioration |
| HP:0007961 | Rarefaction of retinal pigmentation |
| HP:0030880 | Raynaud phenomenon |
| HP:0012051 | Reactive hypoglycemia |
| HP:0010863 | Receptive language delay |
| HP:0005224 | Rectal abscess |
| HP:0025023 | Rectal atresia |
| HP:0100590 | Rectal fistula |
| HP:0002035 | Rectal prolapse |
| HP:0003226 | Rectilinear intracellular accumulation of autofluorescent lipopigment storage material |
| HP:0100822 | Rectocele |
| HP:0004792 | Rectoperineal fistula |
| HP:0000143 | Rectovaginal fistula |
| HP:0025025 | Rectovestibular fistula |
| HP:0040191 | Rectus femoris muscle atrophy |
| HP:0002722 | Recurrent abscess formation |
| HP:0011107 | Recurrent aphthous stomatitis |
| HP:0002724 | Recurrent Aspergillus infections |
| HP:0002100 | Recurrent aspiration pneumonia |
| HP:0002718 | Recurrent bacterial infections |
| HP:0007274 | Recurrent bacterial meningitis |
| HP:0005406 | Recurrent bacterial skin infections |
| HP:0100501 | Recurrent bronchiolitis |
| HP:0002837 | Recurrent bronchitis |
| HP:0006538 | Recurrent bronchopulmonary infections |
| HP:0002842 | Recurrent Burkholderia cepacia infections |
| HP:0005401 | Recurrent candida infections |
| HP:0004968 | Recurrent cerebral hemorrhage |
| HP:0000495 | Recurrent corneal erosions |
| HP:0100838 | Recurrent cutaneous abscess formation |
| HP:0011370 | Recurrent cutaneous fungal infections |
| HP:0012786 | Recurrent cystitis |
| HP:0004850 | Recurrent deep vein thrombosis |
| HP:0002740 | Recurrent E. coli infections |
| HP:0007335 | Recurrent encephalopathy |
| HP:0002743 | Recurrent enteroviral infections |
| HP:0007250 | Recurrent external ophthalmoplegia |
| HP:0002757 | Recurrent fractures |
| HP:0002841 | Recurrent fungal infections |
| HP:0005420 | Recurrent gram-negative bacterial infections |
| HP:0005376 | Recurrent Haemophilus influenzae infections |
| HP:0100023 | Recurrent hand flapping |
| HP:0001988 | Recurrent hypoglycemia |
| HP:0004914 | Recurrent infantile hypoglycemia |
| HP:0004798 | Recurrent infection of the gastrointestinal tract |
| HP:0002719 | Recurrent infections |
| HP:0004891 | Recurrent infections due to aspiration |
| HP:0005437 | Recurrent infections in infancy and early childhood |
| HP:0040268 | Recurrent infections of the middle ear |
| HP:0025351 | Recurrent interdigital mycosis |
| HP:0006535 | Recurrent intrapulmonary hemorrhage |
| HP:0002742 | Recurrent Klebsiella infections |
| HP:0008390 | Recurrent loss of toenails and fingernails |
| HP:0002783 | Recurrent lower respiratory tract infections |
| HP:0005332 | Recurrent mandibular subluxations |
| HP:0006946 | Recurrent meningitis |
| HP:0005381 | Recurrent meningococcal disease |
| HP:0011274 | Recurrent mycobacterial infections |
| HP:0011275 | Recurrent mycobacterium avium complex infections |
| HP:0003652 | Recurrent myoglobinuria |
| HP:0005430 | Recurrent Neisserial infections |
| HP:0005390 | Recurrent opportunistic infections |
| HP:0000403 | Recurrent otitis media |
| HP:0100027 | Recurrent pancreatitis |
| HP:0030885 | Recurrent parasitic infections |
| HP:0002331 | Recurrent paroxysmal headache |
| HP:0005001 | Recurrent patellar dislocation |
| HP:0100776 | Recurrent pharyngitis |
| HP:0006532 | Recurrent pneumonia |
| HP:0005386 | Recurrent protozoan infections |
| HP:0012787 | Recurrent pyelonephritis |
| HP:0002205 | Recurrent respiratory infections |
| HP:0002741 | Recurrent Serratia marcescens infections |
| HP:0100247 | Recurrent singultus |
| HP:0005425 | Recurrent sinopulmonary infections |
| HP:0011108 | Recurrent sinusitis |
| HP:0001581 | Recurrent skin infections |
| HP:0200067 | Recurrent spontaneous abortion |
| HP:0007499 | Recurrent staphylococcal infections |
| HP:0002726 | Recurrent Staphylococcus aureus infections |
| HP:0005366 | Recurrent streptococcus pneumoniae infections |
| HP:0007236 | Recurrent subcortical infarcts |
| HP:0005429 | Recurrent systemic pyogenic infections |
| HP:0004831 | Recurrent thromboembolism |
| HP:0004419 | Recurrent thrombophlebitis |
| HP:0200117 | Recurrent upper and lower respiratory tract infections |
| HP:0002788 | Recurrent upper respiratory tract infections |
| HP:0000010 | Recurrent urinary tract infections |
| HP:0004429 | Recurrent viral infections |
| HP:0011371 | Recurrent viral skin infections |
| HP:0012204 | Recurrent vulvovaginal candidiasis |
| HP:0005540 | Red blood cell keratocytosis |
| HP:0030585 | Red desaturation |
| HP:0025337 | Red eye |
| HP:0002297 | Red hair |
| HP:0000642 | Red-green dyschromatopsia |
| HP:0003637 | Reduced 4-Hydroxyphenylpyruvate dioxygenase activity |
| HP:0003655 | Reduced activity of N-acetylglucosaminyltransferase II |
| HP:0012545 | Reduced aldolase level |
| HP:0040245 | Reduced alpha-2-antiplasmin activity |
| HP:0011907 | Reduced alpha/beta synthesis ratio |
| HP:0030483 | Reduced amplitude of dark-adapted bright flash electroretinogram a-wave |
| HP:0040246 | Reduced antithrombin antigen |
| HP:0001976 | Reduced antithrombin III activity |
| HP:0012770 | Reduced arm span |
| HP:0011906 | Reduced beta/alpha synthesis ratio |
| HP:0004349 | Reduced bone mineral density |
| HP:0025048 | Reduced brain choline level by MRS |
| HP:0025051 | Reduced brain creatine level by MRS |
| HP:0025046 | Reduced brain lactate level by MRS |
| HP:0012708 | Reduced brain N-acetyl aspartate level by MRS |
| HP:0030795 | Reduced C-peptide level |
| HP:0012380 | Reduced carnitine O-palmitoyltransferase activity |
| HP:0012517 | Reduced catalase activity |
| HP:0012336 | Reduced cerebrospinal fluid 5-methyltetrahydrofolate concentration |
| HP:0008165 | Reduced circulating T-helper cells |
| HP:0004372 | Reduced consciousness/confusion |
| HP:0012656 | Reduced CSF dopamine level |
| HP:0030086 | Reduced CSF lactate |
| HP:0002972 | Reduced delayed hypersensitivity |
| HP:0003654 | Reduced dihydropyrimidine dehydrogenase activity |
| HP:0012664 | Reduced ejection fraction |
| HP:0030271 | Reduced erythrocyte 2,3-diphosphoglycerate concentration |
| HP:0040247 | Reduced euglobulin clot lysis time |
| HP:0011858 | Reduced factor IX activity |
| HP:0003225 | Reduced factor V activity |
| HP:0008169 | Reduced factor VII activity |
| HP:0003125 | Reduced factor VIII activity |
| HP:0008321 | Reduced factor X activity |
| HP:0001929 | Reduced factor XI activity |
| HP:0004841 | Reduced factor XII activity |
| HP:0008357 | Reduced factor XIII activity |
| HP:0011905 | Reduced hemoglobin A |
| HP:0025128 | Reduced intraabdominal adipose tissue |
| HP:0003809 | Reduced intrathoracic adipose tissue |
| HP:0005527 | Reduced kininogen activity |
| HP:0004852 | Reduced leukocyte alkaline phosphatase |
| HP:0001983 | Reduced lymphocyte surface expression of CD43 |
| HP:0012497 | Reduced maximal expiratory pressure |
| HP:0012496 | Reduced maximal inspiratory pressure |
| HP:0030362 | Reduced muscle carnitine level |
| HP:0030095 | Reduced muscle collagen VI |
| HP:0030098 | Reduced muscle dystrophin expression |
| HP:0030099 | Reduced muscle fiber alpha dystroglycan |
| HP:0030102 | Reduced muscle fiber alpha sarcoglycan |
| HP:0030107 | Reduced muscle fiber beta sarcoglycan |
| HP:0030121 | Reduced muscle fiber calpain-3 |
| HP:0030111 | Reduced muscle fiber delta sarcoglycan |
| HP:0030115 | Reduced muscle fiber dysferlin |
| HP:0030118 | Reduced muscle fiber emerin |
| HP:0030108 | Reduced muscle fiber gamma sarcoglycan |
| HP:0030124 | Reduced muscle fiber lamin A/C |
| HP:0030094 | Reduced muscle fiber laminin beta 1 |
| HP:0030092 | Reduced muscle fiber merosin |
| HP:0030122 | Reduced muscle fiber perlecan |
| HP:0012178 | Reduced natural killer cell activity |
| HP:0040218 | Reduced natural killer cell number |
| HP:0011491 | Reduced number of corneal endothelial cells |
| HP:0006571 | Reduced number of intrahepatic bile ducts |
| HP:0009804 | Reduced number of teeth |
| HP:0030619 | Reduced OCT-measured foveal thickness |
| HP:0030607 | Reduced OCT-measured macular thickness |
| HP:0003267 | Reduced orotidine 5-prime phosphate decarboxylase activity |
| HP:0006274 | Reduced pancreatic beta cells |
| HP:0005982 | Reduced phenylalanine hydroxylase activity |
| HP:0040248 | Reduced plasminogen activator inhibitor 1 activity |
| HP:0040249 | Reduced plasminogen activator inhibitor 1 antigen |
| HP:0005543 | Reduced protein C activity |
| HP:0004855 | Reduced protein S activity |
| HP:0012201 | Reduced prothrombin activity |
| HP:0040250 | Reduced prothrombin antigen |
| HP:0003337 | Reduced prothrombin consumption |
| HP:0006019 | Reduced proximal interphalangeal joint space |
| HP:0012147 | Reduced quantity of Von Willebrand factor |
| HP:0003513 | Reduced ratio of renal calcium clearance to creatinine clearance |
| HP:0030273 | Reduced red cell adenosine deaminase activity |
| HP:0025109 | Reduced red cell pyruvate kinase activity |
| HP:0005565 | Reduced renal corticomedullary differentiation |
| HP:0012207 | Reduced sperm motility |
| HP:0003758 | Reduced subcutaneous adipose tissue |
| HP:0006673 | Reduced systolic function |
| HP:0001315 | Reduced tendon reflexes |
| HP:0012509 | Reduced thyroxin-binding globulin |
| HP:0012773 | Reduced upper to lower segment ratio |
| HP:0030801 | Reduced visual accommodation |
| HP:0007663 | Reduced visual acuity |
| HP:0002792 | Reduced vital capacity |
| HP:0030797 | Reduced volume of central subdivision of bed nucleus of stria terminalis |
| HP:0008330 | Reduced von Willebrand factor activity |
| HP:0003534 | Reduced xanthine dehydrogenase activity |
| HP:0005400 | Reduction of neutrophil motility |
| HP:0100709 | Reduction of oligodendroglia |
| HP:0005989 | Redundant neck skin |
| HP:0001582 | Redundant skin |
| HP:0007595 | Redundant skin in infancy |
| HP:0007516 | Redundant skin on fingers |
| HP:0005505 | Refractory anemia |
| HP:0004861 | Refractory macrocytic anemia |
| HP:0004864 | Refractory sideroblastic anemia |
| HP:0011356 | Regional abnormality of skin |
| HP:0012667 | Regional left ventricular wall motion abnormality |
| HP:0004482 | Relative macrocephaly |
| HP:0002766 | Relatively short spine |
| HP:0007968 | Remnants of the hyaloid vascular system |
| HP:0000104 | Renal agenesis |
| HP:0008335 | Renal aminoaciduria |
| HP:0001917 | Renal amyloidosis |
| HP:0001920 | Renal artery stenosis |
| HP:0012585 | Renal atrophy |
| HP:0012637 | Renal calcium wasting |
| HP:0012602 | Renal chloride wasting |
| HP:0002048 | Renal cortical atrophy |
| HP:0000803 | Renal cortical cysts |
| HP:0004734 | Renal cortical microcysts |
| HP:0000108 | Renal corticomedullary cysts |
| HP:0000107 | Renal cyst |
| HP:0100877 | Renal diverticulum |
| HP:0000075 | Renal duplication |
| HP:0000110 | Renal dysplasia |
| HP:0001994 | Renal Fanconi syndrome |
| HP:0030760 | Renal fibrosis |
| HP:0008732 | Renal hypophosphatemia |
| HP:0000089 | Renal hypoplasia |
| HP:0008678 | Renal hypoplasia/aplasia |
| HP:0000083 | Renal insufficiency |
| HP:0000111 | Renal juxtaglomerular cell hypertrophy/hyperplasia |
| HP:0005567 | Renal magnesium wasting |
| HP:0004712 | Renal malrotation |
| HP:0025362 | Renal medullary pyramid hypoplasia |
| HP:0000117 | Renal phosphate wasting |
| HP:0000128 | Renal potassium wasting |
| HP:0000127 | Renal salt wasting |
| HP:0012606 | Renal sodium wasting |
| HP:0000799 | Renal steatosis |
| HP:0001947 | Renal tubular acidosis |
| HP:0000124 | Renal tubular dysfunction |
| HP:0008272 | Renal tubular lysine transport defect |
| HP:0008660 | Renotubular dysgenesis |
| HP:0100817 | Renovascular hypertension |
| HP:0006522 | Repeated pneumothoraces |
| HP:0008762 | Repetitive compulsive behavior |
| HP:0012175 | Resistance to activated protein C |
| HP:0005972 | Respiratory acidosis |
| HP:0001950 | Respiratory alkalosis |
| HP:0005943 | Respiratory arrest |
| HP:0002098 | Respiratory distress |
| HP:0002878 | Respiratory failure |
| HP:0004887 | Respiratory failure requiring assisted ventilation |
| HP:0004880 | Respiratory infections in early life |
| HP:0002093 | Respiratory insufficiency |
| HP:0200073 | Respiratory insufficiency due to defective ciliary clearance |
| HP:0002747 | Respiratory insufficiency due to muscle weakness |
| HP:0002203 | Respiratory paralysis |
| HP:0011947 | Respiratory tract infection |
| HP:0030201 | Response to drugs acting on neuromuscular transmission |
| HP:0002322 | Resting tremor |
| HP:0012452 | Restless legs |
| HP:0000711 | Restlessness |
| HP:0006596 | Restricted chest movement |
| HP:0005193 | Restricted large joint movement |
| HP:0005997 | Restricted neck movement due to contractures |
| HP:0000723 | Restrictive behavior |
| HP:0001723 | Restrictive cardiomyopathy |
| HP:0002111 | Restrictive deficit on pulmonary function testing |
| HP:0007936 | Restrictive external ophthalmoplegia |
| HP:0005130 | Restrictive heart failure |
| HP:0007867 | Restrictive partial external ophthalmoplegia |
| HP:0002091 | Restrictive ventilatory defect |
| HP:0011683 | Restrictive ventricular septal defect |
| HP:0012878 | Retarded ejaculation |
| HP:0025117 | Rete ridge flattening |
| HP:0007588 | Reticular hyperpigmentation |
| HP:0007937 | Reticular pigmentary degeneration |
| HP:0007913 | Reticular retinal dystrophy |
| HP:0012788 | Reticulate pigmentation of oral mucosa |
| HP:0007427 | Reticulated skin pigmentation |
| HP:0001896 | Reticulocytopenia |
| HP:0001923 | Reticulocytosis |
| HP:0025355 | Retinal arterial macroaneurysms |
| HP:0025326 | Retinal arterial occlusion |
| HP:0000631 | Retinal arterial tortuosity |
| HP:0008043 | Retinal arteriolar constriction |
| HP:0007985 | Retinal arteriolar occlusion |
| HP:0001136 | Retinal arteriolar tortuosity |
| HP:0008030 | Retinal arteritis |
| HP:0001105 | Retinal atrophy |
| HP:0007862 | Retinal calcification |
| HP:0011513 | Retinal cavernous angioma |
| HP:0000480 | Retinal coloboma |
| HP:0030507 | Retinal crystals |
| HP:0000546 | Retinal degeneration |
| HP:0000541 | Retinal detachment |
| HP:0007973 | Retinal dysplasia |
| HP:0000556 | Retinal dystrophy |
| HP:0030635 | Retinal dystrophy with early macular involvement |
| HP:0001147 | Retinal exudate |
| HP:0012045 | Retinal flecks |
| HP:0008052 | Retinal fold |
| HP:0000573 | Retinal hemorrhage |
| HP:0011530 | Retinal hole |
| HP:0007866 | Retinal infarction |
| HP:0030666 | Retinal neovascularization |
| HP:0007899 | Retinal nonattachment |
| HP:0011958 | Retinal perforation |
| HP:0007722 | Retinal pigment epithelial atrophy |
| HP:0030611 | Retinal pigment epithelial loss on macular OCT |
| HP:0007814 | Retinal pigment epithelial mottling |
| HP:0007763 | Retinal telangiectasia |
| HP:0030329 | Retinal thinning |
| HP:0007797 | Retinal vascular malformation |
| HP:0007850 | Retinal vascular proliferation |
| HP:0012841 | Retinal vascular tortuosity |
| HP:0025188 | Retinal vasculitis |
| HP:0012636 | Retinal vein occlusion |
| HP:0008035 | Retinitis pigmentosa inversa |
| HP:0000488 | Retinopathy |
| HP:0030502 | Retinoschisis |
| HP:0012646 | Retractile testis |
| HP:0100654 | Retrobulbar optic neuritis |
| HP:0006951 | Retrocerebellar cyst |
| HP:0002544 | Retrocollis |
| HP:0000278 | Retrognathia |
| HP:0012877 | Retrograde ejaculation |
| HP:0005200 | Retroperitoneal fibrosis |
| HP:0008433 | Reversed usual vertebral column curves |
| HP:0004713 | Reversible renal failure |
| HP:0006582 | Reye syndrome-like episodes |
| HP:0003201 | Rhabdomyolysis |
| HP:0012230 | Rhegmatogenous retinal detachment |
| HP:0001370 | Rheumatoid arthritis |
| HP:0002923 | Rheumatoid factor positive |
| HP:0012384 | Rhinitis |
| HP:0005069 | Rhizo-meso-acromelic limb shortening |
| HP:0008905 | Rhizomelia |
| HP:0004991 | Rhizomelic arm shortening |
| HP:0012106 | Rhizomelic leg shortening |
| HP:0009379 | Rhomboid or triangular shaped 5th finger distal phalanx |
| HP:0005910 | Rhomboid or triangular shaped 5th finger middle phalanx |
| HP:0009236 | Rhomboid or triangular shaped 5th finger proximal phalanx |
| HP:0030831 | Rhonchi |
| HP:0000902 | Rib fusion |
| HP:0030280 | Rib gap |
| HP:0006655 | Rib segmentation abnormalities |
| HP:0200066 | Ribbonlike corneal degeneration |
| HP:0002748 | Rickets |
| HP:0006463 | Rickets of the lower limbs |
| HP:0010823 | Ridged cranial sutures |
| HP:0008402 | Ridged fingernail |
| HP:0001807 | Ridged nail |
| HP:0000558 | Rieger anomaly |
| HP:0012020 | Right aortic arch |
| HP:0011597 | Right aortic arch with left descending aorta and left ductus arteriosus |
| HP:0002627 | Right aortic arch with mirror image branching |
| HP:0011594 | Right aortic arch with retroesophageal diverticulum of Kommerell |
| HP:0011598 | Right aortic arch with retroesophageal left subclavian artery |
| HP:0030718 | Right atrial enlargement |
| HP:0011536 | Right atrial isomerism |
| HP:0011712 | Right bundle branch block |
| HP:0011551 | Right sided atrium to left ventricle and absent left sided atrioventricular connection |
| HP:0011317 | Right unicoronal synostosis |
| HP:0011322 | Right unilambdoid synostosis |
| HP:0011663 | Right ventricular cardiomyopathy |
| HP:0005133 | Right ventricular dilatation |
| HP:0001708 | Right ventricular failure |
| HP:0001667 | Right ventricular hypertrophy |
| HP:0012816 | Right ventricular noncompaction cardiomyopathy |
| HP:0001705 | Right ventricular outlet obstruction |
| HP:0001694 | Right-to-left shunt |
| HP:0011601 | Rightward direction of ventricular apex |
| HP:0002063 | Rigidity |
| HP:0025145 | Rigors |
| HP:0003805 | Rimmed vacuoles |
| HP:0100305 | Ring fibers |
| HP:0030529 | Ring scotoma |
| HP:0040212 | Risus sardonicus |
| HP:0001838 | Rocker bottom foot |
| HP:0000510 | Rod-cone dystrophy |
| HP:0011072 | Rootless teeth |
| HP:0100320 | Rosenthal fibres |
| HP:0001583 | Rotary nystagmus |
| HP:0006330 | Rotated maxillary central incisors |
| HP:0100670 | Rough bone trabeculation |
| HP:0100830 | Round ear |
| HP:0003843 | Round epiphyses of the upper limbs |
| HP:0000311 | Round face |
| HP:0003899 | Round humeral epiphyses |
| HP:0004006 | Round radial epiphyses |
| HP:0006026 | Rounded epiphyses |
| HP:0005844 | Rounded middle phalanx of finger |
| HP:0025319 | Rubeosis iridis |
| HP:0030665 | Rubral tremor |
| HP:0006381 | Rudimentary fibula |
| HP:0005676 | Rudimentary postaxial polydactyly of hands |
| HP:0006426 | Rudimentary to absent tibiae |
| HP:0007835 | S-shaped palpebral fissures |
| HP:0001152 | Saccadic smooth pursuit |
| HP:0007721 | Saccular conjunctival aneurysms |
| HP:0012729 | Saccular descending thoracic aortic aneurysm |
| HP:0000960 | Sacral dimple |
| HP:0004532 | Sacral hypertrichosis |
| HP:0005765 | Sacral meningocele |
| HP:0008490 | Sacral segmentation defect |
| HP:0030125 | Sacralization of the fifth lumbar vertebra |
| HP:0010767 | Sacrococcygeal pilonidal abnormality |
| HP:0012317 | Sacroiliac arthritis |
| HP:0012449 | Sacroiliac joint synovitis |
| HP:0004442 | Sagittal craniosynostosis |
| HP:0005661 | Salmonella osteomyelitis |
| HP:0030083 | Salt craving |
| HP:0001852 | Sandal gap |
| HP:0004618 | Sandwich appearance of vertebral bodies |
| HP:0030676 | Satyr ear |
| HP:0025122 | Sawtooth acanthosis |
| HP:0040189 | Scaling skin |
| HP:0100809 | Scalp tenderness |
| HP:0002168 | Scanning speech |
| HP:0030799 | Scaphocephaly |
| HP:0025063 | Scaphoid abdomen |
| HP:0010317 | Scapular aplasia |
| HP:0009060 | Scapular muscle atrophy |
| HP:0012895 | Scapular muscle hypertrophy |
| HP:0003691 | Scapular winging |
| HP:0008970 | Scapulohumeral muscular dystrophy |
| HP:0006595 | Scapulohumeral synostosis |
| HP:0003697 | Scapuloperoneal amyotrophy |
| HP:0009054 | Scapuloperoneal myopathy |
| HP:0003704 | Scapuloperoneal weakness |
| HP:0100699 | Scarring |
| HP:0004552 | Scarring alopecia of scalp |
| HP:0008478 | Scheuermann-like vertebral changes |
| HP:0001981 | Schistocytosis |
| HP:0010636 | Schizencephaly |
| HP:0100753 | Schizophrenia |
| HP:0030041 | Schmorl's node |
| HP:0011868 | Sciatica |
| HP:0011626 | Scimitar anomaly |
| HP:0010822 | Scintillating scotoma |
| HP:0012407 | Scissor gait |
| HP:0030854 | Scleral staphyloma |
| HP:0030823 | Scleral thickening |
| HP:0100532 | Scleritis |
| HP:0000647 | Sclerocornea |
| HP:0011838 | Sclerodactyly |
| HP:0100324 | Scleroderma |
| HP:0100918 | Sclerosis of 2nd finger phalanx |
| HP:0100926 | Sclerosis of 2nd toe phalanx |
| HP:0100919 | Sclerosis of 3rd finger phalanx |
| HP:0100927 | Sclerosis of 3rd toe phalanx |
| HP:0100920 | Sclerosis of 4th finger phalanx |
| HP:0100928 | Sclerosis of 4th toe phalanx |
| HP:0100921 | Sclerosis of 5th finger phalanx |
| HP:0100929 | Sclerosis of 5th toe phalanx |
| HP:0100915 | Sclerosis of distal finger phalanx |
| HP:0100948 | Sclerosis of distal toe phalanx |
| HP:0100899 | Sclerosis of finger phalanx |
| HP:0100925 | Sclerosis of foot bone |
| HP:0100930 | Sclerosis of hallux phalanx |
| HP:0004054 | Sclerosis of hand bone |
| HP:0004290 | Sclerosis of hand bones with transverse striations |
| HP:0003933 | Sclerosis of humeral diaphysis |
| HP:0003854 | Sclerosis of metaphyses of the upper limbs |
| HP:0100916 | Sclerosis of middle finger phalanx |
| HP:0100947 | Sclerosis of middle toe phalanx |
| HP:0100917 | Sclerosis of proximal finger phalanx |
| HP:0100946 | Sclerosis of proximal toe phalanx |
| HP:0002694 | Sclerosis of skull base |
| HP:0100914 | Sclerosis of the 1st metacarpal |
| HP:0100945 | Sclerosis of the 1st metatarsal |
| HP:0100900 | Sclerosis of the distal phalanx of the 2nd finger |
| HP:0100939 | Sclerosis of the distal phalanx of the 2nd toe |
| HP:0100901 | Sclerosis of the distal phalanx of the 3rd finger |
| HP:0100940 | Sclerosis of the distal phalanx of the 3rd toe |
| HP:0100902 | Sclerosis of the distal phalanx of the 4th finger |
| HP:0100941 | Sclerosis of the distal phalanx of the 4th toe |
| HP:0100903 | Sclerosis of the distal phalanx of the 5th finger |
| HP:0100942 | Sclerosis of the distal phalanx of the 5th toe |
| HP:0100944 | Sclerosis of the distal phalanx of the hallux |
| HP:0100912 | Sclerosis of the distal phalanx of the thumb |
| HP:0100904 | Sclerosis of the middle phalanx of the 2nd finger |
| HP:0100935 | Sclerosis of the middle phalanx of the 2nd toe |
| HP:0100905 | Sclerosis of the middle phalanx of the 3rd finger |
| HP:0100936 | Sclerosis of the middle phalanx of the 3rd toe |
| HP:0100906 | Sclerosis of the middle phalanx of the 4th finger |
| HP:0100937 | Sclerosis of the middle phalanx of the 4th toe |
| HP:0100907 | Sclerosis of the middle phalanx of the 5th finger |
| HP:0100938 | Sclerosis of the middle phalanx of the 5th toe |
| HP:0100908 | Sclerosis of the proximal phalanx of the 2nd finger |
| HP:0100931 | Sclerosis of the proximal phalanx of the 2nd toe |
| HP:0100909 | Sclerosis of the proximal phalanx of the 3rd finger |
| HP:0100932 | Sclerosis of the proximal phalanx of the 3rd toe |
| HP:0100910 | Sclerosis of the proximal phalanx of the 4th finger |
| HP:0100933 | Sclerosis of the proximal phalanx of the 4th toe |
| HP:0100911 | Sclerosis of the proximal phalanx of the 5th finger |
| HP:0100934 | Sclerosis of the proximal phalanx of the 5th toe |
| HP:0100943 | Sclerosis of the proximal phalanx of the hallux |
| HP:0100913 | Sclerosis of the proximal phalanx of the thumb |
| HP:0100922 | Sclerosis of thumb phalanx |
| HP:0100924 | Sclerosis of toe phalanx |
| HP:0003853 | Sclerosis with transverse striations in metaphyses of the upper limbs |
| HP:0005441 | Sclerotic cranial sutures |
| HP:0003966 | Sclerotic foci in forearm bones |
| HP:0004289 | Sclerotic foci in hand bones |
| HP:0003932 | Sclerotic foci of humeral diaphysis |
| HP:0003952 | Sclerotic foci of metaphyses of the elbow |
| HP:0003880 | Sclerotic foci of the humerus |
| HP:0004240 | Sclerotic foci within carpal bones |
| HP:0003967 | Sclerotic forearm bones |
| HP:0003918 | Sclerotic humeral metaphysis |
| HP:0003919 | Sclerotic humeral metaphysis with longitudinal striations |
| HP:0004007 | Sclerotic radial epiphyses |
| HP:0004022 | Sclerotic radial metaphysis with longitudinal striations |
| HP:0001474 | Sclerotic scapulae |
| HP:0004576 | Sclerotic vertebral endplates |
| HP:0002650 | Scoliosis |
| HP:0000575 | Scotoma |
| HP:0006346 | Screwdriver-shaped incisors |
| HP:0012855 | Scrotal hyperpigmentation |
| HP:0000046 | Scrotal hypoplasia |
| HP:0012853 | Scrotal hypospadias |
| HP:0030155 | Scrotal pain |
| HP:0001982 | Sea-blue histiocytosis |
| HP:0012395 | Seasonal allergy |
| HP:0001051 | Seborrheic dermatitis |
| HP:0011706 | Second degree atrioventricular block |
| HP:0008125 | Second metatarsal posteriorly placed |
| HP:0000869 | Secondary amenorrhea |
| HP:0030364 | Secondary Caesarian section |
| HP:0008240 | Secondary growth hormone deficiency |
| HP:0011741 | Secondary hyperaldosteronism |
| HP:0011744 | Secondary hypercorticolism |
| HP:0000867 | Secondary hyperparathyroidism |
| HP:0005208 | Secretory diarrhea |
| HP:0004433 | Secretory IgA deficiency |
| HP:0001684 | Secundum atrial septal defect |
| HP:0012044 | Seesaw nystagmus |
| HP:0025191 | Segmental myoclonic seizures |
| HP:0007107 | Segmental peripheral demyelination |
| HP:0003481 | Segmental peripheral demyelination/remyelination |
| HP:0009037 | Segmental spinal muscular atrophy |
| HP:0001250 | Seizures |
| HP:0001592 | Selective tooth agenesis |
| HP:0012169 | Self-biting |
| HP:0100716 | Self-injurious behavior |
| HP:0000742 | Self-mutilation |
| HP:0008767 | Self-mutilation of tongue and lips due to involuntary movements |
| HP:0030219 | Semantic dementia |
| HP:0002507 | Semilobar holoprosencephaly |
| HP:0100256 | Senile plaques |
| HP:0007141 | Sensorimotor neuropathy |
| HP:0006865 | Sensorimotor polyneuropathy affecting arms more than legs |
| HP:0000407 | Sensorineural hearing impairment |
| HP:0010871 | Sensory ataxia |
| HP:0003434 | Sensory ataxic neuropathy |
| HP:0003390 | Sensory axonal neuropathy |
| HP:0003474 | Sensory impairment |
| HP:0000763 | Sensory neuropathy |
| HP:0100806 | Sepsis |
| HP:0001153 | Septate vagina |
| HP:0003095 | Septic arthritis |
| HP:0100842 | Septo-optic dysplasia |
| HP:0045073 | Serositis |
| HP:0011853 | Serous pericardial effusion |
| HP:0030045 | Serpentine fibula |
| HP:0011257 | Serpiginous crus of helix |
| HP:0011241 | Serpiginous stem of antihelix |
| HP:0012470 | Setting-sun eye phenomenon |
| HP:0005365 | Severe B lymphocytopenia |
| HP:0006069 | Severe carpal ossification delay |
| HP:0004430 | Severe combined immunodeficiency |
| HP:0012717 | Severe conductive hearing impairment |
| HP:0007258 | Severe demyelination of the white matter |
| HP:0006863 | Severe expressive language delay |
| HP:0001525 | Severe failure to thrive |
| HP:0005897 | Severe generalized osteoporosis |
| HP:0011344 | Severe global developmental delay |
| HP:0012714 | Severe hearing impairment |
| HP:0006882 | Severe hydrocephalus |
| HP:0005099 | Severe hydrops fetalis |
| HP:0008846 | Severe intrauterine growth retardation |
| HP:0004900 | Severe lactic acidosis |
| HP:0200083 | Severe limb shortening |
| HP:0006829 | Severe muscular hypotonia |
| HP:0011003 | Severe Myopia |
| HP:0006830 | Severe neonatal hypotonia in males |
| HP:0000166 | Severe periodontitis |
| HP:0007537 | Severe photosensitivity |
| HP:0004565 | Severe platyspondyly |
| HP:0008850 | Severe postnatal growth retardation |
| HP:0011352 | Severe receptive language delay |
| HP:0005428 | Severe recurrent varicella |
| HP:0008625 | Severe sensorineural hearing impairment |
| HP:0003510 | Severe short stature |
| HP:0008890 | Severe short-limb dwarfism |
| HP:0005379 | Severe T lymphocytopenia |
| HP:0005352 | Severe T-cell immunodeficiency |
| HP:0025162 | Severe temper tantrums |
| HP:0005364 | Severe viral infections |
| HP:0001141 | Severe visual impairment |
| HP:0006893 | Severely dysplastic cerebellum |
| HP:0012666 | Severely reduced ejection fraction |
| HP:0012245 | Sex reversal |
| HP:0009721 | Shagreen patch |
| HP:0003182 | Shallow acetabular fossae |
| HP:0000594 | Shallow anterior chamber |
| HP:0000586 | Shallow orbits |
| HP:0000049 | Shawl scrotum |
| HP:0000694 | Shell teeth |
| HP:0000914 | Shield chest |
| HP:0025144 | Shivering |
| HP:0005723 | Shoe-shaped sella turcica |
| HP:0010034 | Short 1st metacarpal |
| HP:0009536 | Short 2nd finger |
| HP:0010038 | Short 2nd metacarpal |
| HP:0001885 | Short 2nd toe |
| HP:0009461 | Short 3rd finger |
| HP:0010041 | Short 3rd metacarpal |
| HP:0005643 | Short 3rd toe |
| HP:0009280 | Short 4th finger |
| HP:0010044 | Short 4th metacarpal |
| HP:0008093 | Short 4th toe |
| HP:0009237 | Short 5th finger |
| HP:0010047 | Short 5th metacarpal |
| HP:0011917 | Short 5th toe |
| HP:0000736 | Short attention span |
| HP:0000331 | Short chin |
| HP:0011580 | Short chordae tendineae of the mitral valve |
| HP:0006692 | Short chordae tendineae of the tricuspid valve |
| HP:0000894 | Short clavicles |
| HP:0002000 | Short columella |
| HP:0200012 | Short corpus callosum |
| HP:0006336 | Short dental roots |
| HP:0000941 | Short diaphyses |
| HP:0011927 | Short digit |
| HP:0009882 | Short distal phalanx of finger |
| HP:0010103 | Short distal phalanx of hallux |
| HP:0009566 | Short distal phalanx of the 2nd finger |
| HP:0010433 | Short distal phalanx of the 2nd toe |
| HP:0004180 | Short distal phalanx of the 3rd finger |
| HP:0100389 | Short distal phalanx of the 3rd toe |
| HP:0009290 | Short distal phalanx of the 4th finger |
| HP:0100390 | Short distal phalanx of the 4th toe |
| HP:0004227 | Short distal phalanx of the 5th finger |
| HP:0100391 | Short distal phalanx of the 5th toe |
| HP:0009650 | Short distal phalanx of the thumb |
| HP:0001857 | Short distal phalanx of toe |
| HP:0400005 | Short ear |
| HP:0010764 | Short eyelashes |
| HP:0011219 | Short face |
| HP:0100864 | Short femoral neck |
| HP:0003097 | Short femur |
| HP:0011428 | Short fetal femur length |
| HP:0011429 | Short fetal humerus length |
| HP:0004704 | Short fifth metatarsal |
| HP:0009381 | Short finger |
| HP:0010105 | Short first metatarsal |
| HP:0001773 | Short foot |
| HP:0005773 | Short forearm |
| HP:0004689 | Short fourth metatarsal |
| HP:0010109 | Short hallux |
| HP:0010290 | Short hard palate |
| HP:0005792 | Short humerus |
| HP:0100866 | Short iliac bones |
| HP:0040158 | Short intermamillary distance |
| HP:0000200 | Short lingual frenulum |
| HP:0003026 | Short long bone |
| HP:0040055 | Short lower eyelashes |
| HP:0006385 | Short lower limbs |
| HP:0005790 | Short mandibular condyles |
| HP:0003778 | Short mandibular rami |
| HP:0010049 | Short metacarpal |
| HP:0006161 | Short metacarpals with rounded proximal ends |
| HP:0010743 | Short metatarsal |
| HP:0005819 | Short middle phalanx of finger |
| HP:0009577 | Short middle phalanx of the 2nd finger |
| HP:0010435 | Short middle phalanx of the 2nd toe |
| HP:0009439 | Short middle phalanx of the 3rd finger |
| HP:0100392 | Short middle phalanx of the 3rd toe |
| HP:0009295 | Short middle phalanx of the 4th finger |
| HP:0100393 | Short middle phalanx of the 4th toe |
| HP:0004220 | Short middle phalanx of the 5th finger |
| HP:0100394 | Short middle phalanx of the 5th toe |
| HP:0003795 | Short middle phalanx of toe |
| HP:0001799 | Short nail |
| HP:0003194 | Short nasal bridge |
| HP:0000420 | Short nasal septum |
| HP:0000470 | Short neck |
| HP:0003196 | Short nose |
| HP:0004279 | Short palm |
| HP:0012745 | Short palpebral fissure |
| HP:0009803 | Short phalanx of finger |
| HP:0010111 | Short phalanx of hallux |
| HP:0010431 | Short phalanx of the 2nd toe |
| HP:0100366 | Short phalanx of the 3rd toe |
| HP:0100367 | Short phalanx of the 4th toe |
| HP:0100368 | Short phalanx of the 5th toe |
| HP:0009660 | Short phalanx of the thumb |
| HP:0000322 | Short philtrum |
| HP:0006045 | Short pointed phalanges |
| HP:0010241 | Short proximal phalanx of finger |
| HP:0010107 | Short proximal phalanx of hallux |
| HP:0009597 | Short proximal phalanx of the 2nd finger |
| HP:0010437 | Short proximal phalanx of the 2nd toe |
| HP:0009459 | Short proximal phalanx of the 3rd finger |
| HP:0100395 | Short proximal phalanx of the 3rd toe |
| HP:0009301 | Short proximal phalanx of the 4th finger |
| HP:0100396 | Short proximal phalanx of the 4th toe |
| HP:0009226 | Short proximal phalanx of the 5th finger |
| HP:0100397 | Short proximal phalanx of the 5th toe |
| HP:0009638 | Short proximal phalanx of thumb |
| HP:0011928 | Short proximal phalanx of toe |
| HP:0000773 | Short ribs |
| HP:0003185 | Short sacroiliac notch |
| HP:0011845 | Short second metatarsal |
| HP:0004322 | Short stature |
| HP:0007311 | Short stepped shuffling gait |
| HP:0000879 | Short sternum |
| HP:0004686 | Short third metatarsal |
| HP:0010306 | Short thorax |
| HP:0009778 | Short thumb |
| HP:0005736 | Short tibia |
| HP:0001831 | Short toe |
| HP:0001248 | Short tubular bones of the hand |
| HP:0001196 | Short umbilical cord |
| HP:0040054 | Short upper eyelashes |
| HP:0000188 | Short upper lip |
| HP:0010812 | Short uvula |
| HP:0011284 | Short-segment aganglionic megacolon |
| HP:0200107 | Shortened inner dynein arms |
| HP:0200108 | Shortened outer dynein arms |
| HP:0005165 | Shortened PR interval |
| HP:0012232 | Shortened QT interval |
| HP:0006118 | Shortening of all distal phalanges of the fingers |
| HP:0005793 | Shortening of all distal phalanges of the toes |
| HP:0005720 | Shortening of all metacarpals |
| HP:0006110 | Shortening of all middle phalanges of the fingers |
| HP:0006239 | Shortening of all middle phalanges of the toes |
| HP:0011910 | Shortening of all phalanges of fingers |
| HP:0005035 | Shortening of all phalanges of the toes |
| HP:0006144 | Shortening of all proximal phalanges of the fingers |
| HP:0008117 | Shortening of the talar neck |
| HP:0006436 | Shortening of the tibia |
| HP:0010782 | Shoulder dimples |
| HP:0003834 | Shoulder dislocation |
| HP:0011413 | Shoulder dystocia |
| HP:0003044 | Shoulder flexion contracture |
| HP:0003724 | Shoulder girdle muscle atrophy |
| HP:0003547 | Shoulder girdle muscle weakness |
| HP:0030881 | Shoulder impingement |
| HP:0008952 | Shoulder muscle hypoplasia |
| HP:0030834 | Shoulder pain |
| HP:0003835 | Shoulder subluxation |
| HP:0006358 | Shovel-shaped maxillary central incisors |
| HP:0002362 | Shuffling gait |
| HP:0100962 | Shyness |
| HP:0011704 | Sick sinus syndrome |
| HP:0030058 | Sickled erythrocytes |
| HP:0001924 | Sideroblastic anemia |
| HP:0002218 | Silver-gray hair |
| HP:0011171 | Simple febrile seizures |
| HP:0025121 | Simple partial occipital seizures |
| HP:0040201 | Simultanapraxia |
| HP:0011640 | Single coronary artery origin |
| HP:0030006 | Single fiber EMG abnormality |
| HP:0006216 | Single interphalangeal crease of fifth finger |
| HP:0006315 | Single median maxillary incisor |
| HP:0009932 | Single naris |
| HP:0000954 | Single transverse palmar crease |
| HP:0001195 | Single umbilical artery |
| HP:0001750 | Single ventricle |
| HP:0011680 | Single ventricle of indeterminate morphology |
| HP:0012723 | Sinoatrial block |
| HP:0001688 | Sinus bradycardia |
| HP:0011645 | Sinus of Valsalva aneurysm |
| HP:0011703 | Sinus tachycardia |
| HP:0011567 | Sinus venosus atrial septal defect |
| HP:0000246 | Sinusitis |
| HP:0010497 | Sirenomelia |
| HP:0001696 | Situs inversus totalis |
| HP:0008416 | Six lumbar vertebrae |
| HP:0002652 | Skeletal dysplasia |
| HP:0003202 | Skeletal muscle atrophy |
| HP:0030951 | Skeletal muscle fibrosis |
| HP:0003712 | Skeletal muscle hypertrophy |
| HP:0003756 | Skeletal myopathy |
| HP:0012546 | Skewed maternal X inactivation |
| HP:0030819 | Ski jump nail |
| HP:0001024 | Skin dimple over apex of long bone angulation |
| HP:0010781 | Skin dimples |
| HP:0200041 | Skin erosion |
| HP:0007585 | Skin fragility with non-scarring blistering |
| HP:0200036 | Skin nodule |
| HP:0100276 | Skin pit |
| HP:0200035 | Skin plaque |
| HP:0000988 | Skin rash |
| HP:0010609 | Skin tags |
| HP:0200042 | Skin ulcer |
| HP:0200037 | Skin vesicle |
| HP:0012166 | Skin-picking |
| HP:0002678 | Skull asymmetry |
| HP:0200006 | Slanting of the palpebral fissure |
| HP:0010535 | Sleep apnea |
| HP:0002360 | Sleep disturbance |
| HP:0012323 | Sleep myoclonus |
| HP:0025233 | Sleep paralysis |
| HP:0030765 | Sleep terror |
| HP:0006979 | Sleep-wake cycle disturbance |
| HP:0005335 | Sleepy facial expression |
| HP:0001533 | Slender build |
| HP:0012296 | Slender distal phalanx of finger |
| HP:0001238 | Slender finger |
| HP:0003969 | Slender forearm bones |
| HP:0003934 | Slender humeral diaphysis |
| HP:0003882 | Slender humerus |
| HP:0003100 | Slender long bone |
| HP:0004993 | Slender long bones with narrow diaphyses |
| HP:0006236 | Slender metacarpals |
| HP:0012295 | Slender middle phalanx of finger |
| HP:0000417 | Slender nose |
| HP:0012297 | Slender proximal phalanx of finger |
| HP:0040062 | Slender radius |
| HP:0011308 | Slender toe |
| HP:0003992 | Slender ulna |
| HP:0008588 | Slit-like opening of the exterior auditory meatus |
| HP:0007756 | Slitlike anterior chamber angles in children |
| HP:0000340 | Sloping forehead |
| HP:0003920 | Sloping humeral metaphysis |
| HP:0004008 | Sloping radial epiphyses |
| HP:0004023 | Sloping radial metaphysis |
| HP:0004045 | Sloping ulnar metaphysis |
| HP:0007924 | Slow decrease in visual acuity |
| HP:0030211 | Slow pupillary light response |
| HP:0000514 | Slow saccadic eye movements |
| HP:0002217 | Slow-growing hair |
| HP:0008383 | Slow-growing nails |
| HP:0100038 | Slow-growing scalp hair |
| HP:0007885 | Slowed horizontal saccades |
| HP:0007164 | Slowed slurred speech |
| HP:0006983 | Slowly progressive spastic quadriparesis |
| HP:0001350 | Slurred speech |
| HP:0006584 | Small abnormally formed scapulae |
| HP:0000237 | Small anterior fontanelle |
| HP:0012697 | Small basal ganglia |
| HP:0002256 | Small bowel diverticula |
| HP:0002472 | Small cerebral cortex |
| HP:0004629 | Small cervical vertebral bodies |
| HP:0012283 | Small distal femoral epiphysis |
| HP:0000385 | Small earlobe |
| HP:0010585 | Small epiphyses |
| HP:0009496 | Small epiphyses of the 2nd finger |
| HP:0100052 | Small epiphyses of the 2nd toe |
| HP:0009418 | Small epiphyses of the 3rd finger |
| HP:0100063 | Small epiphyses of the 3rd toe |
| HP:0009401 | Small epiphyses of the 4th finger |
| HP:0100074 | Small epiphyses of the 4th toe |
| HP:0009390 | Small epiphyses of the 5th finger |
| HP:0100085 | Small epiphyses of the 5th toe |
| HP:0010254 | Small epiphyses of the distal phalanges of the hand |
| HP:0010121 | Small epiphyses of the hallux |
| HP:0009194 | Small epiphyses of the metacarpals |
| HP:0010265 | Small epiphyses of the middle phalanges of the hand |
| HP:0010236 | Small epiphyses of the phalanges of the hand |
| HP:0010276 | Small epiphyses of the proximal phalanges of the hand |
| HP:0010170 | Small epiphyses of the toes |
| HP:0003844 | Small epiphyses of the upper limbs |
| HP:0010023 | Small epiphysis of the 1st metacarpal |
| HP:0010157 | Small epiphysis of the 1st metatarsal |
| HP:0009510 | Small epiphysis of the distal phalanx of the 2nd finger |
| HP:0100108 | Small epiphysis of the distal phalanx of the 2nd toe |
| HP:0009343 | Small epiphysis of the distal phalanx of the 3rd finger |
| HP:0100143 | Small epiphysis of the distal phalanx of the 3rd toe |
| HP:0009258 | Small epiphysis of the distal phalanx of the 4th finger |
| HP:0100177 | Small epiphysis of the distal phalanx of the 4th toe |
| HP:0009148 | Small epiphysis of the distal phalanx of the 5th finger |
| HP:0100210 | Small epiphysis of the distal phalanx of the 5th toe |
| HP:0010146 | Small epiphysis of the distal phalanx of the hallux |
| HP:0009683 | Small epiphysis of the distal phalanx of the thumb |
| HP:0009521 | Small epiphysis of the middle phalanx of the 2nd finger |
| HP:0100119 | Small epiphysis of the middle phalanx of the 2nd toe |
| HP:0009329 | Small epiphysis of the middle phalanx of the 3rd finger |
| HP:0100154 | Small epiphysis of the middle phalanx of the 3rd toe |
| HP:0009222 | Small epiphysis of the middle phalanx of the 4th finger |
| HP:0100188 | Small epiphysis of the middle phalanx of the 4th toe |
| HP:0009211 | Small epiphysis of the middle phalanx of the 5th finger |
| HP:0100221 | Small epiphysis of the middle phalanx of the 5th toe |
| HP:0009532 | Small epiphysis of the proximal phalanx of the 2nd finger |
| HP:0100130 | Small epiphysis of the proximal phalanx of the 2nd toe |
| HP:0009354 | Small epiphysis of the proximal phalanx of the 3rd finger |
| HP:0100165 | Small epiphysis of the proximal phalanx of the 3rd toe |
| HP:0009269 | Small epiphysis of the proximal phalanx of the 4th finger |
| HP:0100199 | Small epiphysis of the proximal phalanx of the 4th toe |
| HP:0009159 | Small epiphysis of the proximal phalanx of the 5th finger |
| HP:0100232 | Small epiphysis of the proximal phalanx of the 5th toe |
| HP:0010135 | Small epiphysis of the proximal phalanx of the hallux |
| HP:0009672 | Small epiphysis of the proximal phalanx of the thumb |
| HP:0000274 | Small face |
| HP:0030033 | Small finger |
| HP:0005759 | Small flat posterior fossa |
| HP:0005486 | Small fontanelle |
| HP:0001518 | Small for gestational age |
| HP:0002677 | Small foramen magnum |
| HP:0000350 | Small forehead |
| HP:0200055 | Small hand |
| HP:0003900 | Small humeral epiphyses |
| HP:0010487 | Small hypothenar eminence |
| HP:0012849 | Small intestinal bleeding |
| HP:0012850 | Small intestinal dysmotility |
| HP:0012848 | Small intestinal stenosis |
| HP:0001792 | Small nail |
| HP:0012506 | Small pituitary gland |
| HP:0006266 | Small placenta |
| HP:0040010 | Small posterior fossa |
| HP:0012284 | Small proximal tibial epiphyses |
| HP:0004010 | Small radial epiphyses |
| HP:0004247 | Small scaphoid |
| HP:0030276 | Small scrotum |
| HP:0010538 | Small sella turcica |
| HP:0001245 | Small thenar eminence |
| HP:0009694 | Small thumb epiphysis |
| HP:0030031 | Small toe |
| HP:0004255 | Small trapezium |
| HP:0004258 | Small trapezoid bone |
| HP:0011944 | Small vessel vasculitis |
| HP:0200141 | Small, conical teeth |
| HP:0003262 | Smooth muscle antibody positivity |
| HP:0000319 | Smooth philtrum |
| HP:0025172 | Smooth septal thickening |
| HP:0010298 | Smooth tongue |
| HP:0025095 | Sneeze |
| HP:0025267 | Snoring |
| HP:0030905 | Snout reflex |
| HP:0011533 | Snowflake vitreoretinal degeneration |
| HP:0007086 | Social and occupational deterioration |
| HP:0030220 | Socially inappropriate behavior |
| HP:0000977 | Soft skin |
| HP:0006162 | Soft tissue swelling of interphalangeal joints |
| HP:0001027 | Soft, doughy skin |
| HP:0003837 | Soft-tissue ossification around the shoulders |
| HP:0008691 | Solitary bladder diverticulum |
| HP:0011528 | Solitary congenital hypertrophy of retinal pigment epithelium |
| HP:0012581 | Solitary renal cyst |
| HP:0011163 | Somatosensory auras |
| HP:0025236 | Somnambulism |
| HP:0025112 | Sound sensitivity |
| HP:0000535 | Sparse and thin eyebrow |
| HP:0004768 | Sparse anterior scalp hair |
| HP:0002215 | Sparse axillary hair |
| HP:0002231 | Sparse body hair |
| HP:0002752 | Sparse bone trabeculae |
| HP:0045075 | Sparse eyebrow |
| HP:0000653 | Sparse eyelashes |
| HP:0007464 | Sparse facial hair |
| HP:0008070 | Sparse hair |
| HP:0005338 | Sparse lateral eyebrow |
| HP:0007776 | Sparse lower eyelashes |
| HP:0025325 | Sparse medial eyebrow |
| HP:0200102 | Sparse or absent eyelashes |
| HP:0002225 | Sparse pubic hair |
| HP:0002209 | Sparse scalp hair |
| HP:0040050 | Sparse upper eyelashes |
| HP:0010533 | Spasmus nutans |
| HP:0002497 | Spastic ataxia |
| HP:0001264 | Spastic diplegia |
| HP:0002464 | Spastic dysarthria |
| HP:0002064 | Spastic gait |
| HP:0011099 | Spastic hemiparesis |
| HP:0002313 | Spastic paraparesis |
| HP:0001258 | Spastic paraplegia |
| HP:0001285 | Spastic tetraparesis |
| HP:0002510 | Spastic tetraplegia |
| HP:0005340 | Spastic/hyperactive bladder |
| HP:0001257 | Spasticity |
| HP:0002491 | Spasticity of facial muscles |
| HP:0002501 | Spasticity of pharyngeal muscles |
| HP:0012307 | Spatulate ribs |
| HP:0001222 | Spatulate thumbs |
| HP:0012247 | Specific anosmia |
| HP:0002848 | Specific anti-polysaccharide antibody deficiency |
| HP:0012475 | Specific antibody deficiency |
| HP:0001328 | Specific learning disability |
| HP:0012476 | Specific pneumococcal antibody deficiency |
| HP:0007962 | Speckled corneal dystrophy |
| HP:0011098 | Speech apraxia |
| HP:0009088 | Speech articulation difficulties |
| HP:0012865 | Sperm head anomaly |
| HP:0012867 | Sperm mid-piece anomaly |
| HP:0012866 | Sperm neck anomaly |
| HP:0012868 | Sperm tail anomaly |
| HP:0004444 | Spherocytosis |
| HP:0012441 | Sphincter of Oddi dyskinesia |
| HP:0012522 | Spider hemangioma |
| HP:0002414 | Spina bifida |
| HP:0003298 | Spina bifida occulta |
| HP:0004601 | Spina bifida occulta at L5 |
| HP:0004614 | Spina bifida occulta at S1 |
| HP:0002390 | Spinal arteriovenous malformation |
| HP:0003416 | Spinal canal stenosis |
| HP:0002176 | Spinal cord compression |
| HP:0100561 | Spinal cord lesion |
| HP:0008311 | Spinal cord posterior columns myelin loss |
| HP:0008443 | Spinal deformities |
| HP:0008423 | Spinal dysplasia |
| HP:0010301 | Spinal dysraphism |
| HP:0005881 | Spinal instability |
| HP:0010304 | Spinal meningeal diverticulum |
| HP:0007269 | Spinal muscular atrophy |
| HP:0010531 | Spinal myoclonus |
| HP:0030726 | Spinal neurenteric cyst |
| HP:0003306 | Spinal rigidity |
| HP:0005733 | Spinal stenosis with reduced interpedicular distance |
| HP:0009745 | Spinalarachnoid cyst |
| HP:0007263 | Spinocerebellar atrophy |
| HP:0002503 | Spinocerebellar tract degeneration |
| HP:0007232 | Spinocerebellar tract disease in lower limbs |
| HP:0007613 | Spinous keratoses of palms and soles |
| HP:0030247 | Splanchnic vein thrombosis |
| HP:0200003 | Splayed epiphyses |
| HP:0030029 | Splayed fingers |
| HP:0030285 | Splayed superior cerebellar peduncle |
| HP:0011307 | Splayed toes |
| HP:0025059 | Splenic abscess |
| HP:0030423 | Splenic cyst |
| HP:0012223 | Splenic rupture |
| HP:0001744 | Splenomegaly |
| HP:0001839 | Split foot |
| HP:0001171 | Split hand |
| HP:0001809 | Split nail |
| HP:0030391 | Spoken Word Recognition Deficit |
| HP:0002651 | Spondyloepimetaphyseal dysplasia |
| HP:0002655 | Spondyloepiphyseal dysplasia |
| HP:0003302 | Spondylolisthesis |
| HP:0008489 | Spondylolisthesis at L5-S1 |
| HP:0003304 | Spondylolysis |
| HP:0002657 | Spondylometaphyseal dysplasia |
| HP:0005268 | Spontaneous abortion |
| HP:0006702 | Spontaneous coronary artery dissection |
| HP:0005203 | Spontaneous esophageal perforation |
| HP:0007420 | Spontaneous hematomas |
| HP:0005525 | Spontaneous hemolytic crises |
| HP:0004876 | Spontaneous neonatal pneumothorax |
| HP:0010833 | Spontaneous pain sensation |
| HP:0030403 | Spontaneous platelet aggregation |
| HP:0002108 | Spontaneous pneumothorax |
| HP:0010727 | Spontaneous rupture of the globe |
| HP:0004406 | Spontaneous, recurrent epistaxis |
| HP:0005585 | Spotty hyperpigmentation |
| HP:0005590 | Spotty hypopigmentation |
| HP:0000912 | Sprengel anomaly |
| HP:0003922 | Spurred humeral metaphysis |
| HP:0003855 | Spurred metaphyses of the upper limbs |
| HP:0004025 | Spurred radial metaphysis |
| HP:0004046 | Spurred ulnar metaphysis |
| HP:0004028 | Spurs of radial diaphysis |
| HP:0000321 | Square face |
| HP:0003923 | Square humeral metaphysis |
| HP:0003278 | Square pelvis bone |
| HP:0003177 | Squared iliac bones |
| HP:0030026 | Squared superior portion of helix |
| HP:0008418 | Squared-off platyspondyly |
| HP:0012250 | ST segment depression |
| HP:0012251 | ST segment elevation |
| HP:0012623 | Stage 1 chronic kidney disease |
| HP:0012624 | Stage 2 chronic kidney disease |
| HP:0012625 | Stage 3 chronic kidney disease |
| HP:0012626 | Stage 4 chronic kidney disease |
| HP:0003774 | Stage 5 chronic kidney disease |
| HP:0100015 | Stahl ear |
| HP:0000381 | Stapes ankylosis |
| HP:0008507 | Static ophthalmoparesis |
| HP:0012653 | Status asthmaticus |
| HP:0025012 | Status cribrosum |
| HP:0002133 | Status epilepticus |
| HP:0002570 | Steatorrhea |
| HP:0010455 | Steep acetabular roof |
| HP:0012775 | Stellate iris |
| HP:0040118 | Stenosis of the Eustachian tube |
| HP:0000402 | Stenosis of the external auditory canal |
| HP:0100254 | Stenosis of the medullary cavity of the long bones |
| HP:0003376 | Steppage gait |
| HP:0012425 | Stercoral ulcer |
| HP:0012172 | Stereotypical body rocking |
| HP:0012171 | Stereotypical hand wringing |
| HP:0000733 | Stereotypy |
| HP:0006637 | Sternal punctate calcifications |
| HP:0012036 | Sternocleidomastoid amyotrophy |
| HP:0012588 | Steroid-resistant nephrotic syndrome |
| HP:0025264 | Stiff ankle |
| HP:0025259 | Stiff elbow |
| HP:0025261 | Stiff finger |
| HP:0025262 | Stiff hip |
| HP:0005198 | Stiff interphalangeal joints |
| HP:0025263 | Stiff knee |
| HP:0025258 | Stiff neck |
| HP:0009742 | Stiff shoulders |
| HP:0030053 | Stiff skin |
| HP:0025265 | Stiff toe |
| HP:0025260 | Stiff wrist |
| HP:0004241 | Stippled calcification in carpal bones |
| HP:0004291 | Stippled calcification of hand bones |
| HP:0003924 | Stippled calcification of humeral metaphysis |
| HP:0003941 | Stippled calcification of the elbow |
| HP:0003901 | Stippled calcification of the humeral epiphyses |
| HP:0003836 | Stippled calcification of the shoulder |
| HP:0008838 | Stippled calcification proximal humeral epiphyses |
| HP:0002764 | Stippled chondral calcification |
| HP:0009497 | Stippling of the epiphyses of the 2nd finger |
| HP:0100053 | Stippling of the epiphyses of the 2nd toe |
| HP:0009419 | Stippling of the epiphyses of the 3rd finger |
| HP:0100064 | Stippling of the epiphyses of the 3rd toe |
| HP:0009402 | Stippling of the epiphyses of the 4th finger |
| HP:0100075 | Stippling of the epiphyses of the 4th toe |
| HP:0009391 | Stippling of the epiphyses of the 5th finger |
| HP:0100086 | Stippling of the epiphyses of the 5th toe |
| HP:0010255 | Stippling of the epiphyses of the distal phalanges of the hand |
| HP:0010122 | Stippling of the epiphyses of the hallux |
| HP:0010266 | Stippling of the epiphyses of the middle phalanges of the hand |
| HP:0010277 | Stippling of the epiphyses of the proximal phalanges of the hand |
| HP:0010158 | Stippling of the epiphysis of the 1st metatarsal |
| HP:0009511 | Stippling of the epiphysis of the distal phalanx of the 2nd finger |
| HP:0100109 | Stippling of the epiphysis of the distal phalanx of the 2nd toe |
| HP:0009344 | Stippling of the epiphysis of the distal phalanx of the 3rd finger |
| HP:0100144 | Stippling of the epiphysis of the distal phalanx of the 3rd toe |
| HP:0009259 | Stippling of the epiphysis of the distal phalanx of the 4th finger |
| HP:0100178 | Stippling of the epiphysis of the distal phalanx of the 4th toe |
| HP:0009165 | Stippling of the epiphysis of the distal phalanx of the 5th finger |
| HP:0100211 | Stippling of the epiphysis of the distal phalanx of the 5th toe |
| HP:0010147 | Stippling of the epiphysis of the distal phalanx of the hallux |
| HP:0009684 | Stippling of the epiphysis of the distal phalanx of the thumb |
| HP:0009522 | Stippling of the epiphysis of the middle phalanx of the 2nd finger |
| HP:0100120 | Stippling of the epiphysis of the middle phalanx of the 2nd toe |
| HP:0009330 | Stippling of the epiphysis of the middle phalanx of the 3rd finger |
| HP:0100155 | Stippling of the epiphysis of the middle phalanx of the 3rd toe |
| HP:0009223 | Stippling of the epiphysis of the middle phalanx of the 4th finger |
| HP:0100189 | Stippling of the epiphysis of the middle phalanx of the 4th toe |
| HP:0009212 | Stippling of the epiphysis of the middle phalanx of the 5th finger |
| HP:0100222 | Stippling of the epiphysis of the middle phalanx of the 5th toe |
| HP:0009533 | Stippling of the epiphysis of the proximal phalanx of the 2nd finger |
| HP:0100131 | Stippling of the epiphysis of the proximal phalanx of the 2nd toe |
| HP:0009355 | Stippling of the epiphysis of the proximal phalanx of the 3rd finger |
| HP:0100166 | Stippling of the epiphysis of the proximal phalanx of the 3rd toe |
| HP:0009270 | Stippling of the epiphysis of the proximal phalanx of the 4th finger |
| HP:0100200 | Stippling of the epiphysis of the proximal phalanx of the 4th toe |
| HP:0009201 | Stippling of the epiphysis of the proximal phalanx of the 5th finger |
| HP:0100233 | Stippling of the epiphysis of the proximal phalanx of the 5th toe |
| HP:0010136 | Stippling of the epiphysis of the proximal phalanx of the hallux |
| HP:0009673 | Stippling of the epiphysis of the proximal phalanx of the thumb |
| HP:0009695 | Stippling of thumb epiphysis |
| HP:0010280 | Stomatitis |
| HP:0004446 | Stomatocytosis |
| HP:0000486 | Strabismus |
| HP:0011562 | Straddling atrioventricular valve |
| HP:0006587 | Straight clavicles |
| HP:0010464 | Streak ovary |
| HP:0007501 | Streaks of hyperkeratosis along each finger onto the palm |
| HP:0005092 | Streaky metaphyseal sclerosis |
| HP:0010992 | Stress urinary incontinence |
| HP:0004897 | Stress/infection-induced lactic acidosis |
| HP:0001065 | Striae distensae |
| HP:0010307 | Stridor |
| HP:0001297 | Stroke |
| HP:0002401 | Stroke-like episodes |
| HP:0010219 | Structural foot deformity |
| HP:0030035 | Struvite nephrolithiasis |
| HP:0025268 | Stuttering |
| HP:0006572 | Subacute progressive viral hepatitis |
| HP:0001682 | Subaortic stenosis |
| HP:0002138 | Subarachnoid hemorrhage |
| HP:0011681 | Subarterial ventricular septal defect |
| HP:0000523 | Subcapsular cataract |
| HP:0030720 | Subchorionic septal cyst |
| HP:0030714 | Subchorionic thrombohematoma |
| HP:0011896 | Subconjunctival hemorrhage |
| HP:0012157 | Subcortical cerebral atrophy |
| HP:0007123 | Subcortical dementia |
| HP:0007346 | Subcortical white matter calcifications |
| HP:0007618 | Subcutaneous calcification |
| HP:0001933 | Subcutaneous hemorrhage |
| HP:0001482 | Subcutaneous nodule |
| HP:0025014 | Subcutaneous spheroids |
| HP:0100309 | Subdural hemorrhage |
| HP:0002416 | Subependymal cysts |
| HP:0008039 | Subepithelial corneal opacities |
| HP:0001607 | Subglottic stenosis |
| HP:0025239 | Subhyaloid hemorrhage |
| HP:0004294 | Subluxation of metacarpal phalangeal joints |
| HP:0004230 | Subluxation of the proximal interphalangeal joint of the little finger |
| HP:0004269 | Subluxation of the small joints of the hand |
| HP:0000176 | Submucous cleft hard palate |
| HP:0009101 | Submucous cleft lip |
| HP:0011819 | Submucous cleft soft palate |
| HP:0003106 | Subperiosteal erosions due to secondary hyperparathyroidism |
| HP:0025178 | Subpleural interstitial thickening |
| HP:0011532 | Subretinal exudate |
| HP:0025243 | Subretinal hemorrhage |
| HP:0030624 | Subretinal hyporeflective spaces on macular OCT |
| HP:0025244 | Subretinal pigment epithelium hemorrhage |
| HP:0003548 | Subsarcolemmal accumulations of abnormally shaped mitochondria |
| HP:0011960 | Substantia nigra gliosis |
| HP:0025192 | Subtentorial periventricular white matter hyperdensity |
| HP:0008392 | Subungual hyperkeratosis |
| HP:0008410 | Subungual hyperkeratotic fragments |
| HP:0030906 | Suck reflex |
| HP:0003269 | Sudanophilic leukodystrophy |
| HP:0001645 | Sudden cardiac death |
| HP:0002882 | Sudden episodic apnea |
| HP:0001117 | Sudden loss of visual acuity |
| HP:0003643 | Sulfite oxidase deficiency |
| HP:0009938 | Sunken cheeks |
| HP:0025339 | Superficial episcleral hyperemia |
| HP:0002638 | Superficial thrombophlebitis |
| HP:0008019 | Superior lens subluxation |
| HP:0100859 | Superior mesenteric artery aneurysm |
| HP:0000917 | Superior pectus carinatum |
| HP:0012242 | Superior rectus atrophy |
| HP:0005820 | Superior rib anomalies |
| HP:0011543 | Superior-inferior ventricles without criss-cross atrioventricular valves |
| HP:0008541 | Superiorly displaced ears |
| HP:0030484 | Supernormal dark-adapted bright flash electroretinogram b-wave |
| HP:0009144 | Supernumerary bones of the axial skeleton |
| HP:0006332 | Supernumerary maxillary incisor |
| HP:0005917 | Supernumerary metacarpal bones |
| HP:0009934 | Supernumerary naris |
| HP:0002558 | Supernumerary nipple |
| HP:0005815 | Supernumerary ribs |
| HP:0009799 | Supernumerary spleens |
| HP:0010470 | Supernumerary testes |
| HP:0002946 | Supernumerary vertebrae |
| HP:0004598 | Supernumerary vertebral ossification centers |
| HP:0008606 | Supraauricular pit |
| HP:0011719 | Supracardiac total anomalous pulmonary venous connection |
| HP:0011572 | Supramitral ring |
| HP:0000605 | Supranuclear gaze palsy |
| HP:0000623 | Supranuclear ophthalmoplegia |
| HP:0012489 | Suprasellar arachnoid cyst |
| HP:0004381 | Supravalvular aortic stenosis |
| HP:0005115 | Supraventricular arrhythmia |
| HP:0004755 | Supraventricular tachycardia |
| HP:0011689 | Supraventricular tachycardia with a concealed accessory connection |
| HP:0011691 | Supraventricular tachycardia with a concealed accessory pathway on the left free wall |
| HP:0011692 | Supraventricular tachycardia with a concealed accessory pathway on the right free wall |
| HP:0011693 | Supraventricular tachycardia with a concealed accessory pathway on the septum |
| HP:0011694 | Supraventricular tachycardia with a manifest accessory pathway |
| HP:0011696 | Supraventricular tachycardia with a manifest accessory pathway on the left free wall |
| HP:0011697 | Supraventricular tachycardia with a manifest accessory pathway on the right free wall |
| HP:0011698 | Supraventricular tachycardia with a manifest accessory pathway on the septum |
| HP:0011688 | Supraventricular tachycardia with an accessory connection mediated pathway |
| HP:0005360 | Susceptibility to chickenpox |
| HP:0005396 | Susceptibility to coronavirus 229e |
| HP:0005353 | Susceptibility to herpesvirus |
| HP:0010695 | Sutural cataract |
| HP:0006150 | Swan neck-like deformities of the fingers |
| HP:0030221 | Sweet craving |
| HP:0006253 | Swelling of proximal interphalangeal joints |
| HP:0011311 | Sydney crease |
| HP:0430007 | Symblepharon |
| HP:0200015 | Symmetric great toe depigmentation |
| HP:0007039 | Symmetric lesions of the basal ganglia |
| HP:0007262 | Symmetric peripheral demyelination |
| HP:0006873 | Symmetrical progressive peripheral demyelination |
| HP:0002695 | Symmetrical, oval parietal bone defects |
| HP:0010191 | Symphalangism affecting the distal phalanges of the toes |
| HP:0010419 | Symphalangism affecting the distal phalanx of the 2nd toe |
| HP:0100476 | Symphalangism affecting the distal phalanx of the 3rd toe |
| HP:0100477 | Symphalangism affecting the distal phalanx of the 4th toe |
| HP:0100478 | Symphalangism affecting the distal phalanx of the 5th toe |
| HP:0010082 | Symphalangism affecting the distal phalanx of the hallux |
| HP:0010200 | Symphalangism affecting the middle phalanges of the toes |
| HP:0010410 | Symphalangism affecting the middle phalanx of the 2nd toe |
| HP:0100470 | Symphalangism affecting the middle phalanx of the 3rd toe |
| HP:0100471 | Symphalangism affecting the middle phalanx of the 4th toe |
| HP:0100472 | Symphalangism affecting the middle phalanx of the 5th toe |
| HP:0010353 | Symphalangism affecting the phalanges of the 2nd toe |
| HP:0010365 | Symphalangism affecting the phalanges of the 3rd toe |
| HP:0010377 | Symphalangism affecting the phalanges of the 4th toe |
| HP:0010389 | Symphalangism affecting the phalanges of the 5th toe |
| HP:0010064 | Symphalangism affecting the phalanges of the hallux |
| HP:0009773 | Symphalangism affecting the phalanges of the hand |
| HP:0010179 | Symphalangism affecting the phalanges of the toes |
| HP:0009857 | Symphalangism affecting the proximal phalanges of the hand |
| HP:0010209 | Symphalangism affecting the proximal phalanges of the toes |
| HP:0009586 | Symphalangism affecting the proximal phalanx of the 2nd finger |
| HP:0010401 | Symphalangism affecting the proximal phalanx of the 2nd toe |
| HP:0009455 | Symphalangism affecting the proximal phalanx of the 3rd finger |
| HP:0100473 | Symphalangism affecting the proximal phalanx of the 3rd toe |
| HP:0009314 | Symphalangism affecting the proximal phalanx of the 4th finger |
| HP:0100474 | Symphalangism affecting the proximal phalanx of the 4th toe |
| HP:0009232 | Symphalangism affecting the proximal phalanx of the 5th finger |
| HP:0100475 | Symphalangism affecting the proximal phalanx of the 5th toe |
| HP:0010091 | Symphalangism affecting the proximal phalanx of the hallux |
| HP:0009574 | Symphalangism of middle phalanx of 2nd finger |
| HP:0009435 | Symphalangism of middle phalanx of 3rd finger |
| HP:0009308 | Symphalangism of middle phalanx of 4th finger |
| HP:0009178 | Symphalangism of middle phalanx of 5th finger |
| HP:0009849 | Symphalangism of middle phalanx of finger |
| HP:0009545 | Symphalangism of the 2nd finger |
| HP:0009445 | Symphalangism of the 3rd finger |
| HP:0004197 | Symphalangism of the 4th finger |
| HP:0004218 | Symphalangism of the 5th finger |
| HP:0009598 | Symphalangism of the proximal phalanx of the 2nd finger with the 2nd metatcarpal |
| HP:0100483 | Symphalangism of the proximal phalanx of the 2nd toe with the 2nd metatarsal |
| HP:0009483 | Symphalangism of the proximal phalanx of the 3rd finger with the 3rd metatcarpal |
| HP:0100484 | Symphalangism of the proximal phalanx of the 3rd toe with the 3rd metatarsal |
| HP:0009478 | Symphalangism of the proximal phalanx of the 4th finger with the 4th metatcarpal |
| HP:0100485 | Symphalangism of the proximal phalanx of the 4th toe with the 4th metatarsal |
| HP:0009234 | Symphalangism of the proximal phalanx of the 5th finger with the 5th metatcarpal |
| HP:0100486 | Symphalangism of the proximal phalanx of the 5th toe with the 5th metatarsal |
| HP:0009656 | Symphalangism of the thumb |
| HP:0011145 | Symptomatic seizures |
| HP:0001279 | Syncope |
| HP:0001159 | Syndactyly |
| HP:0000664 | Synophrys |
| HP:0009140 | Synostosis involving bones of the feet |
| HP:0004278 | Synostosis involving bones of the hand |
| HP:0009138 | Synostosis involving bones of the lower limbs |
| HP:0100235 | Synostosis involving bones of the toes |
| HP:0100238 | Synostosis involving bones of the upper limbs |
| HP:0100262 | Synostosis involving digits |
| HP:0009703 | Synostosis involving the 1st metacarpal |
| HP:0010073 | Synostosis involving the 1st metatarsal |
| HP:0009705 | Synostosis involving the 2nd metacarpal |
| HP:0009706 | Synostosis involving the 3rd metacarpal |
| HP:0009707 | Synostosis involving the 4th metacarpal |
| HP:0009708 | Synostosis involving the 5th metacarpal |
| HP:0003938 | Synostosis involving the elbow |
| HP:0005928 | Synostosis involving the fibula |
| HP:0005929 | Synostosis involving the tibia |
| HP:0005048 | Synostosis of carpal bones |
| HP:0100266 | Synostosis of carpals/tarsals |
| HP:0100240 | Synostosis of joints |
| HP:0100265 | Synostosis of metacarpals/metatarsals |
| HP:0004293 | Synostosis of second metacarpal-trapezoid |
| HP:0100488 | Synostosis of the proximal phalanx of the hallux with the 1st metatarsal |
| HP:0009640 | Synostosis of the proximal phalanx of the thumb with the 1st metatcarpal |
| HP:0009635 | Synostosis of thumb phalanx |
| HP:0100663 | Synotia |
| HP:0003942 | Synovial chondromatosis of the elbow |
| HP:0005186 | Synovial hypertrophy |
| HP:0100769 | Synovitis |
| HP:0003396 | Syringomyelia |
| HP:0002725 | Systemic lupus erythematosus |
| HP:0012266 | T-wave alternans |
| HP:0010872 | T-wave inversion |
| HP:0003140 | T-wave inversion in the right precordial leads |
| HP:0012753 | T2 hypointense basal ganglia |
| HP:0012750 | T2 hypointense brainstem |
| HP:0012690 | T2 hypointense thalamus |
| HP:0001649 | Tachycardia |
| HP:0002789 | Tachypnea |
| HP:0011665 | Takotsubo cardiomyopathy |
| HP:0001883 | Talipes |
| HP:0001884 | Talipes calcaneovalgus |
| HP:0008124 | Talipes calcaneovarus |
| HP:0004696 | Talipes cavus equinovarus |
| HP:0001772 | Talipes equinovalgus |
| HP:0001762 | Talipes equinovarus |
| HP:0004684 | Talipes valgus |
| HP:0400000 | Tall chin |
| HP:0008421 | Tall lumbar vertebral bodies |
| HP:0000098 | Tall stature |
| HP:0005682 | Talocalcaneal synostosis |
| HP:0011087 | Talon cusp |
| HP:0009884 | Tapered distal phalanges of finger |
| HP:0001182 | Tapered finger |
| HP:0003883 | Tapered humerus |
| HP:0006108 | Tapered metacarpals |
| HP:0006192 | Tapered phalanx of finger |
| HP:0011309 | Tapered toe |
| HP:0006224 | Tapering pointed ends of distal finger phalanges |
| HP:0000547 | Tapetoretinal degeneration |
| HP:0040141 | Tardive dyskinesia |
| HP:0001775 | Tarsal osteovalgus |
| HP:0008131 | Tarsal stippling |
| HP:0008368 | Tarsal synostosis |
| HP:0100329 | Tarsometatarsal synostosis |
| HP:0000679 | Taurodontia |
| HP:0007408 | Tegumentary leishmaniasis susceptibility |
| HP:0007561 | Telangiectases in sun-exposed and nonexposed skin |
| HP:0007421 | Telangiectases of the cheeks |
| HP:0007586 | Telangiectases producing 'marbled' skin |
| HP:0001009 | Telangiectasia |
| HP:0007583 | Telangiectasia macularis eruptiva perstans |
| HP:0007621 | Telangiectasia of extensor surfaces |
| HP:0009893 | Telangiectasia of the ear |
| HP:0007428 | Telangiectasia of the oral mucosa |
| HP:0100585 | Telangiectasia of the skin |
| HP:0000506 | Telecanthus |
| HP:0005968 | Temperature instability |
| HP:0030165 | Temporal artery tortuosity |
| HP:0007112 | Temporal cortical atrophy |
| HP:0004524 | Temporal hypotrichosis |
| HP:0012511 | Temporal optic disc pallor |
| HP:0012478 | Temporomandibular joint ankylosis |
| HP:0012479 | Temporomandibular joint crepitus |
| HP:0100550 | Tendon rupture |
| HP:0010874 | Tendon xanthomatosis |
| HP:0025230 | Tendonitis |
| HP:0012702 | Tenesmus |
| HP:0012228 | Tension-type headache |
| HP:0011825 | Tented philtrum |
| HP:0010804 | Tented upper lip vermilion |
| HP:0011770 | Tertiary hyperparathyroidism |
| HP:0000029 | Testicular atrophy |
| HP:0008715 | Testicular dysgenesis |
| HP:0012860 | Testicular fibrosis |
| HP:0012215 | Testicular microlithiasis |
| HP:0100813 | Testicular torsion |
| HP:0001281 | Tetany |
| HP:0002144 | Tethered cord |
| HP:0003057 | Tetraamelia |
| HP:0001636 | Tetralogy of Fallot |
| HP:0011659 | Tetralogy of Fallot with absent pulmonary valve |
| HP:0011676 | Tetralogy of Fallot with absent subarterial conus |
| HP:0011677 | Tetralogy of Fallot with atrioventricular canal defect |
| HP:0012516 | Tetralogy of Fallot with pulmonary atresia |
| HP:0011678 | Tetralogy of Fallot with pulmonary atresia and major aortopulmonary collateral arteries |
| HP:0011679 | Tetralogy of Fallot with pulmonary stenosis |
| HP:0002273 | Tetraparesis |
| HP:0030721 | Tetraphocomelia |
| HP:0002445 | Tetraplegia |
| HP:0030182 | Tetraplegia/tetraparesis |
| HP:0025041 | Thalamic calcification |
| HP:0025040 | Thalamic edema |
| HP:0025064 | Thalamic hemorrhage |
| HP:0012660 | Thalamic hypometabolism in FDG PET |
| HP:0003393 | Thenar muscle atrophy |
| HP:0003427 | Thenar muscle weakness |
| HP:0030449 | Therapeutic abortion |
| HP:0004860 | Thiamine-responsive megaloblastic anemia |
| HP:0009100 | Thick anterior alveolar ridges |
| HP:0006891 | Thick cerebral cortex |
| HP:0007074 | Thick corpus callosum |
| HP:0000574 | Thick eyebrow |
| HP:0025369 | Thick growth plates |
| HP:0100874 | Thick hair |
| HP:0000179 | Thick lower lip vermilion |
| HP:0001805 | Thick nail |
| HP:0009928 | Thick nasal alae |
| HP:0009746 | Thick nasal septum |
| HP:0002737 | Thick skull base |
| HP:0000215 | Thick upper lip vermilion |
| HP:0012471 | Thick vermilion border |
| HP:0004690 | Thickened Achilles tendon |
| HP:0002684 | Thickened calvaria |
| HP:0100039 | Thickened cortex of bones |
| HP:0000935 | Thickened cortex of long bones |
| HP:0009894 | Thickened ears |
| HP:0025166 | Thickened elastic fibers in the dermis |
| HP:0000391 | Thickened helices |
| HP:0000474 | Thickened nuchal skin fold |
| HP:0000900 | Thickened ribs |
| HP:0001072 | Thickened skin |
| HP:0002404 | Thickened superior cerebellar peduncle |
| HP:0025005 | Thickening of glomerular capillary wall |
| HP:0004722 | Thickening of the glomerular basement membrane |
| HP:0006650 | Thickening of the lateral border of the scapula |
| HP:0003733 | Thigh hypertrophy |
| HP:0006193 | Thimble-shaped middle phalanges of hand |
| HP:0004495 | Thin anteverted nares |
| HP:0002753 | Thin bony cortex |
| HP:0010539 | Thin calvarium |
| HP:0006645 | Thin clavicles |
| HP:0009905 | Thin ear helix |
| HP:0045074 | Thin eyebrow |
| HP:0012742 | Thin fingernail |
| HP:0012577 | Thin glomerular basement membrane |
| HP:0006470 | Thin long bone diaphyses |
| HP:0010282 | Thin lower lip vermilion |
| HP:0006086 | Thin metacarpal cortices |
| HP:0008078 | Thin metatarsal cortices |
| HP:0001816 | Thin nail |
| HP:0006213 | Thin proximal phalanges with broad epiphyses of the hand |
| HP:0000883 | Thin ribs |
| HP:0000963 | Thin skin |
| HP:0012746 | Thin toenail |
| HP:0000219 | Thin upper lip vermilion |
| HP:0000233 | Thin vermilion border |
| HP:0000931 | Thinning and bulging of the posterior fossa bones |
| HP:0001709 | Third degree atrioventricular block |
| HP:0004962 | Thoracic aorta calcification |
| HP:0012727 | Thoracic aortic aneurysm |
| HP:0006644 | Thoracic dysplasia |
| HP:0011585 | Thoracic ectopia cordis |
| HP:0008467 | Thoracic hemivertebrae |
| HP:0011914 | Thoracic hypertrichosis |
| HP:0005257 | Thoracic hypoplasia |
| HP:0005659 | Thoracic kyphoscoliosis |
| HP:0002942 | Thoracic kyphosis |
| HP:0004592 | Thoracic platyspondyly |
| HP:0002943 | Thoracic scoliosis |
| HP:0011586 | Thoracoabdominal ectopia cordis |
| HP:0100657 | Thoracoabdominal eventration |
| HP:0100656 | Thoracoabdominal wall defect |
| HP:0011584 | Thoracocervical ectopia cordis |
| HP:0008484 | Thoracolumbar interpediculate narrowness |
| HP:0003423 | Thoracolumbar kyphoscoliosis |
| HP:0005619 | Thoracolumbar kyphosis |
| HP:0002944 | Thoracolumbar scoliosis |
| HP:0008009 | Three rows of eyelashes |
| HP:0001873 | Thrombocytopenia |
| HP:0001894 | Thrombocytosis |
| HP:0001727 | Thromboembolic stroke |
| HP:0001907 | Thromboembolism |
| HP:0004418 | Thrombophlebitis |
| HP:0005726 | Thumbs hypoplastic with bulbous tips |
| HP:0030907 | Thunderclap headache |
| HP:0003357 | Thymic hormone decreased |
| HP:0010516 | Thymus hyperplasia |
| HP:0010518 | Thyroglossal cyst |
| HP:0008191 | Thyroid agenesis |
| HP:0011781 | Thyroid C cell hyperplasia |
| HP:0011782 | Thyroid crisis |
| HP:0008263 | Thyroid defect in oxidation and organification of iodide |
| HP:0008188 | Thyroid dysgenesis |
| HP:0008225 | Thyroid follicular hyperplasia |
| HP:0011780 | Thyroid hemiagenesis |
| HP:0002930 | Thyroid hormone receptor defect |
| HP:0008249 | Thyroid hyperplasia |
| HP:0005990 | Thyroid hypoplasia |
| HP:0008229 | Thyroid lymphangiectasia |
| HP:0002925 | Thyroid-stimulating hormone excess |
| HP:0011789 | Thyroid-stimulating hormone receptor defect |
| HP:0100646 | Thyroiditis |
| HP:0011783 | Thyrotoxicosis from ectopic thyroid tissue |
| HP:0011784 | Thyrotoxicosis with diffuse goiter |
| HP:0011785 | Thyrotoxicosis with toxic multinodular goitre |
| HP:0011786 | Thyrotoxicosis with toxic single thyroid nodule |
| HP:0002982 | Tibial bowing |
| HP:0100345 | Tibial deviation of the 2nd toe |
| HP:0100343 | Tibial deviation of the 3rd toe |
| HP:0100341 | Tibial deviation of the 4th toe |
| HP:0100347 | Tibial deviation of the 5th toe |
| HP:0100499 | Tibial deviation of toes |
| HP:0030292 | Tibial metaphyseal irregularity |
| HP:0009736 | Tibial pseudoarthrosis |
| HP:0100694 | Tibial torsion |
| HP:0011399 | Tibialis atrophy |
| HP:0008963 | Tibialis muscle weakness |
| HP:0100535 | Tibiofibular diastasis |
| HP:0100033 | Tics |
| HP:0045055 | Tiger tail banding |
| HP:0000360 | Tinnitus |
| HP:0030051 | Tip-toe gait |
| HP:0030187 | Titubation |
| HP:0001863 | Toe clinodactyly |
| HP:0011916 | Toe extensor amyotrophy |
| HP:0030841 | Toe pain |
| HP:0001770 | Toe syndactyly |
| HP:0040083 | Toe walking |
| HP:0100797 | Toenail dysplasia |
| HP:0006060 | Tombstone-shaped proximal phalanges |
| HP:0012473 | Tongue atrophy |
| HP:0001308 | Tongue fasciculations |
| HP:0000199 | Tongue nodules |
| HP:0030811 | Tongue pain |
| HP:0000227 | Tongue telangiectasia |
| HP:0100703 | Tongue thrusting |
| HP:0005680 | Tongue-like lumbar vertebral deformities |
| HP:0012074 | Tonic pupil |
| HP:0011110 | Tonsillitis |
| HP:0030757 | Tooth abscess |
| HP:0030859 | Topoisomerase I antibody positivity |
| HP:0001664 | Torsade de pointes |
| HP:0001304 | Torsion dystonia |
| HP:0030263 | Torsion of the penis |
| HP:0000473 | Torticollis |
| HP:0000503 | Tortuosity of conjunctival vessels |
| HP:0004938 | Tortuous cerebral arteries |
| HP:0100789 | Torus palatinus |
| HP:0011629 | Total absence of the pericardium |
| HP:0030134 | Total absence von Willebrand factor multimers |
| HP:0005160 | Total anomalous pulmonary venous return |
| HP:0010632 | Total anosmia |
| HP:0010700 | Total cataract |
| HP:0011286 | Total colonic aganglionosis |
| HP:0010634 | Total hyposmia |
| HP:0003460 | Total immunoglobulin A deficiency |
| HP:0005241 | Total intestinal aganglionosis |
| HP:0007824 | Total ophthalmoplegia |
| HP:0100603 | Toxemia of pregnancy |
| HP:0100682 | Tracheal atresia |
| HP:0002787 | Tracheal calcification |
| HP:0002777 | Tracheal stenosis |
| HP:0025008 | Tracheal tug on inspiration |
| HP:0006524 | Tracheobronchial leiomyomatosis |
| HP:0010776 | Tracheobronchmegaly |
| HP:0002786 | Tracheobronchomalacia |
| HP:0002575 | Tracheoesophageal fistula |
| HP:0002779 | Tracheomalacia |
| HP:0010778 | Tracheomegaly |
| HP:0030804 | Trachyonychia |
| HP:0007917 | Tractional retinal detachment |
| HP:0011258 | Tragal bridge of crus of helix |
| HP:0008273 | Transient aminoaciduria |
| HP:0005510 | Transient erythroblastopenia |
| HP:0010534 | Transient global amnesia |
| HP:0012779 | Transient hearing impairment |
| HP:0008279 | Transient hyperlipidemia |
| HP:0008297 | Transient hyperphenylalaninemia |
| HP:0005432 | Transient hypogammaglobulinemia of infancy |
| HP:0008285 | Transient hypophosphatemia |
| HP:0002326 | Transient ischemic attack |
| HP:0008255 | Transient neonatal diabetes mellitus |
| HP:0008695 | Transient nephrotic syndrome |
| HP:0006932 | Transient psychotic episodes |
| HP:0005828 | Transient pulmonary infiltrates |
| HP:0001125 | Transient unilateral blurring of vision |
| HP:0011578 | Transitional atrioventricular canal defect |
| HP:0001669 | Transposition of the great arteries |
| HP:0011606 | Transposition of the great arteries with intact ventricular septum |
| HP:0011607 | Transposition of the great arteries with ventricular septal defect |
| HP:0011920 | Transudative pleural effusion |
| HP:0100731 | Transverse facial cleft |
| HP:0000145 | Transverse vaginal septum |
| HP:0006432 | Trapezoidal distal femoral condyles |
| HP:0005621 | Trapezoidal shaped vertebral bodies |
| HP:0001337 | Tremor |
| HP:0030188 | Tremor by anatomical site |
| HP:0010587 | Triangular epiphyses |
| HP:0009498 | Triangular epiphyses of the 2nd finger |
| HP:0100054 | Triangular epiphyses of the 2nd toe |
| HP:0009420 | Triangular epiphyses of the 3rd finger |
| HP:0100065 | Triangular epiphyses of the 3rd toe |
| HP:0009403 | Triangular epiphyses of the 4th finger |
| HP:0100076 | Triangular epiphyses of the 4th toe |
| HP:0009392 | Triangular epiphyses of the 5th finger |
| HP:0100087 | Triangular epiphyses of the 5th toe |
| HP:0010256 | Triangular epiphyses of the distal phalanges of the hand |
| HP:0010123 | Triangular epiphyses of the hallux |
| HP:0009171 | Triangular epiphyses of the metacarpals |
| HP:0010267 | Triangular epiphyses of the middle phalanges of the hand |
| HP:0010238 | Triangular epiphyses of the phalanges of the hand |
| HP:0010278 | Triangular epiphyses of the proximal phalanges of the hand |
| HP:0009696 | Triangular epiphyses of the thumb |
| HP:0010172 | Triangular epiphyses of the toes |
| HP:0010025 | Triangular epiphysis of the 1st metacarpal |
| HP:0010159 | Triangular epiphysis of the 1st metatarsal |
| HP:0009512 | Triangular epiphysis of the distal phalanx of the 2nd finger |
| HP:0100110 | Triangular epiphysis of the distal phalanx of the 2nd toe |
| HP:0009345 | Triangular epiphysis of the distal phalanx of the 3rd finger |
| HP:0100145 | Triangular epiphysis of the distal phalanx of the 3rd toe |
| HP:0009260 | Triangular epiphysis of the distal phalanx of the 4th finger |
| HP:0100179 | Triangular epiphysis of the distal phalanx of the 4th toe |
| HP:0009149 | Triangular epiphysis of the distal phalanx of the 5th finger |
| HP:0100212 | Triangular epiphysis of the distal phalanx of the 5th toe |
| HP:0010148 | Triangular epiphysis of the distal phalanx of the hallux |
| HP:0009685 | Triangular epiphysis of the distal phalanx of the thumb |
| HP:0009523 | Triangular epiphysis of the middle phalanx of the 2nd finger |
| HP:0100121 | Triangular epiphysis of the middle phalanx of the 2nd toe |
| HP:0009331 | Triangular epiphysis of the middle phalanx of the 3rd finger |
| HP:0100156 | Triangular epiphysis of the middle phalanx of the 3rd toe |
| HP:0009224 | Triangular epiphysis of the middle phalanx of the 4th finger |
| HP:0100190 | Triangular epiphysis of the middle phalanx of the 4th toe |
| HP:0009213 | Triangular epiphysis of the middle phalanx of the 5th finger |
| HP:0100223 | Triangular epiphysis of the middle phalanx of the 5th toe |
| HP:0009534 | Triangular epiphysis of the proximal phalanx of the 2nd finger |
| HP:0100132 | Triangular epiphysis of the proximal phalanx of the 2nd toe |
| HP:0009356 | Triangular epiphysis of the proximal phalanx of the 3rd finger |
| HP:0100167 | Triangular epiphysis of the proximal phalanx of the 3rd toe |
| HP:0009271 | Triangular epiphysis of the proximal phalanx of the 4th finger |
| HP:0100201 | Triangular epiphysis of the proximal phalanx of the 4th toe |
| HP:0009154 | Triangular epiphysis of the proximal phalanx of the 5th finger |
| HP:0100234 | Triangular epiphysis of the proximal phalanx of the 5th toe |
| HP:0010137 | Triangular epiphysis of the proximal phalanx of the hallux |
| HP:0009674 | Triangular epiphysis of the proximal phalanx of the thumb |
| HP:0000325 | Triangular face |
| HP:0003884 | Triangular humerus |
| HP:0000207 | Triangular mouth |
| HP:0000451 | Triangular nasal tip |
| HP:0010699 | Triangular nuclear cataract |
| HP:0010033 | Triangular shaped 1st metacarpal |
| HP:0010074 | Triangular shaped 1st metatarsal |
| HP:0009875 | Triangular shaped distal phalanges of the hand |
| HP:0010192 | Triangular shaped distal phalanges of the toes |
| HP:0009564 | Triangular shaped distal phalanx of the 2nd finger |
| HP:0010420 | Triangular shaped distal phalanx of the 2nd toe |
| HP:0009427 | Triangular shaped distal phalanx of the 3rd finger |
| HP:0009306 | Triangular shaped distal phalanx of the 4th finger |
| HP:0009245 | Triangular shaped distal phalanx of the 5th finger |
| HP:0100487 | Triangular shaped distal phalanx of the 5th toe |
| HP:0010083 | Triangular shaped distal phalanx of the hallux |
| HP:0009648 | Triangular shaped distal phalanx of the thumb |
| HP:0009850 | Triangular shaped middle phalanges of the hand |
| HP:0010201 | Triangular shaped middle phalanges of the toes |
| HP:0009575 | Triangular shaped middle phalanx of the 2nd finger |
| HP:0010411 | Triangular shaped middle phalanx of the 2nd toe |
| HP:0009436 | Triangular shaped middle phalanx of the 3rd finger |
| HP:0009309 | Triangular shaped middle phalanx of the 4th finger |
| HP:0009182 | Triangular shaped middle phalanx of the 5th finger |
| HP:0009546 | Triangular shaped phalanges of the 2nd finger |
| HP:0010354 | Triangular shaped phalanges of the 2nd toe |
| HP:0009446 | Triangular shaped phalanges of the 3rd finger |
| HP:0010366 | Triangular shaped phalanges of the 3rd toe |
| HP:0009407 | Triangular shaped phalanges of the 4th finger |
| HP:0010378 | Triangular shaped phalanges of the 4th toe |
| HP:0009378 | Triangular shaped phalanges of the 5th finger |
| HP:0010390 | Triangular shaped phalanges of the 5th toe |
| HP:0010065 | Triangular shaped phalanges of the hallux |
| HP:0009774 | Triangular shaped phalanges of the hand |
| HP:0010180 | Triangular shaped phalanges of the toes |
| HP:0009858 | Triangular shaped proximal phalanges of the hand |
| HP:0010210 | Triangular shaped proximal phalanges of the toes |
| HP:0009587 | Triangular shaped proximal phalanx of the 2nd finger |
| HP:0010402 | Triangular shaped proximal phalanx of the 2nd toe |
| HP:0009456 | Triangular shaped proximal phalanx of the 3rd finger |
| HP:0009315 | Triangular shaped proximal phalanx of the 4th finger |
| HP:0009233 | Triangular shaped proximal phalanx of the 5th finger |
| HP:0010092 | Triangular shaped proximal phalanx of the hallux |
| HP:0009636 | Triangular shaped proximal phalanx of the thumb |
| HP:0009657 | Triangular shaped thumb phalanx |
| HP:0030284 | Triangular tongue |
| HP:0200096 | Triangular-shaped open mouth |
| HP:0009785 | Triceps aplasia |
| HP:0100855 | Triceps hypoplasia |
| HP:0001128 | Trichiasis |
| HP:0025246 | Trichilemmal cyst |
| HP:0002552 | Trichodysplasia |
| HP:0009886 | Trichorrhexis nodosa |
| HP:0011662 | Tricuspid atresia |
| HP:0005180 | Tricuspid regurgitation |
| HP:0010446 | Tricuspid stenosis |
| HP:0001704 | Tricuspid valve prolapse |
| HP:0004060 | Trident hand |
| HP:0011715 | Trifascicular block |
| HP:0100661 | Trigeminal neuralgia |
| HP:0000243 | Trigonocephaly |
| HP:0003614 | Trimethylaminuria |
| HP:0001199 | Triphalangeal thumb |
| HP:0100564 | Triplomyelia |
| HP:0000211 | Trismus |
| HP:0000552 | Tritanomaly |
| HP:0010834 | Trophic changes related to pain |
| HP:0003091 | Trophic limb changes |
| HP:0011478 | True anophthalmia |
| HP:0010459 | True hermaphroditism |
| HP:0002078 | Truncal ataxia |
| HP:0001956 | Truncal obesity |
| HP:0030147 | Truncal titubation |
| HP:0001660 | Truncus arteriosus |
| HP:0003361 | Tryptophanuria |
| HP:0000092 | Tubular atrophy |
| HP:0005583 | Tubular basement membrane disintegration |
| HP:0006166 | Tubular metacarpal bones |
| HP:0001969 | Tubulointerstitial abnormality |
| HP:0005576 | Tubulointerstitial fibrosis |
| HP:0001970 | Tubulointerstitial nephritis |
| HP:0000262 | Turricephaly |
| HP:0006668 | Twelfth rib hypoplasia |
| HP:0006176 | Two carpal ossification centers present at birth |
| HP:0003787 | Type 1 and type 2 muscle fiber minicore regions |
| HP:0003784 | Type 1 collagen overmodification |
| HP:0003755 | Type 1 fibers relatively smaller than type 2 fibers |
| HP:0011807 | Type 1 muscle fiber atrophy |
| HP:0003803 | Type 1 muscle fiber predominance |
| HP:0003554 | Type 2 muscle fiber atrophy |
| HP:0010602 | Type 2 muscle fiber predominance |
| HP:0009370 | Type A brachydactyly |
| HP:0009371 | Type A1 brachydactyly |
| HP:0009372 | Type A2 brachydactyly |
| HP:0005831 | Type B brachydactyly |
| HP:0009373 | Type C brachydactyly |
| HP:0005627 | Type D brachydactyly |
| HP:0005863 | Type E brachydactyly |
| HP:0011253 | Type I cryptotia |
| HP:0100651 | Type I diabetes mellitus |
| HP:0006818 | Type I lissencephaly |
| HP:0003642 | Type I transferrin isoform profile |
| HP:0004384 | Type I truncus arteriosus |
| HP:0011254 | Type II cryptotia |
| HP:0005978 | Type II diabetes mellitus |
| HP:0007260 | Type II lissencephaly |
| HP:0012301 | Type II transferrin isoform profile |
| HP:0011608 | Type II truncus arteriosus |
| HP:0045028 | Type III lissencephaly |
| HP:0011609 | Type III truncus arteriosus |
| HP:0011610 | Type IV truncus arteriosus |
| HP:0011147 | Typical absence seizures |
| HP:0025071 | U wave inversion |
| HP:0010806 | U-Shaped upper lip vermilion |
| HP:0012083 | Ubiquitin-positive cerebral inclusion bodies |
| HP:0011724 | Uhl's anomaly |
| HP:0100279 | Ulcerative colitis |
| HP:0003031 | Ulnar bowing |
| HP:0001178 | Ulnar claw |
| HP:0006055 | Ulnar deviated club hands |
| HP:0009465 | Ulnar deviation of finger |
| HP:0009464 | Ulnar deviation of the 2nd finger |
| HP:0009463 | Ulnar deviation of the 3rd finger |
| HP:0009278 | Ulnar deviation of the 4th finger |
| HP:0009180 | Ulnar deviation of the 5th finger |
| HP:0009487 | Ulnar deviation of the hand |
| HP:0001193 | Ulnar deviation of the hand or of fingers of the hand |
| HP:0003049 | Ulnar deviation of the wrist |
| HP:0006156 | Ulnar deviation of thumb |
| HP:0004042 | Ulnar metaphyseal irregularity |
| HP:0005856 | Ulnar radial head dislocation |
| HP:0030654 | Umbilical cord cyst |
| HP:0030657 | Umbilical cord hematoma |
| HP:0030655 | Umbilical cord knot |
| HP:0001537 | Umbilical hernia |
| HP:0030656 | Umbilical vein varix |
| HP:0025103 | Umbilicated nodule |
| HP:0030536 | Unaided visual acuity 0.1 LogMAR |
| HP:0030537 | Unaided visual acuity 0.2 LogMAR |
| HP:0030538 | Unaided visual acuity 0.3 LogMAR |
| HP:0030539 | Unaided visual acuity 0.4 LogMAR |
| HP:0030540 | Unaided visual acuity 0.5 LogMAR |
| HP:0030541 | Unaided visual acuity 0.6 LogMAR |
| HP:0030542 | Unaided visual acuity 0.7 LogMAR |
| HP:0030543 | Unaided visual acuity 0.8 LogMAR |
| HP:0030544 | Unaided visual acuity 0.9 LogMAR |
| HP:0030545 | Unaided visual acuity 1.0 LogMAR |
| HP:0030546 | Unaided visual acuity 1.1 LogMAR |
| HP:0030547 | Unaided visual acuity 1.2 LogMAR |
| HP:0030548 | Unaided visual acuity 1.3 LogMAR |
| HP:0030549 | Unaided visual acuity 2.0 LogMAR |
| HP:0030550 | Unaided visual acuity 3.0 LogMAR |
| HP:0011579 | Unbalanced atrioventricular canal defect |
| HP:0030056 | Uncombable hair |
| HP:0008282 | Unconjugated hyperbilirubinemia |
| HP:0007738 | Uncontrolled eye movements |
| HP:0011251 | Underdeveloped antitragus |
| HP:0009898 | Underdeveloped crus of the helix |
| HP:0011239 | Underdeveloped inferior crus of antihelix |
| HP:0000430 | Underdeveloped nasal alae |
| HP:0010801 | Underdeveloped nasolabial fold |
| HP:0011242 | Underdeveloped stem of antihelix |
| HP:0011246 | Underdeveloped superior crus of antihelix |
| HP:0009891 | Underdeveloped supraorbital ridges |
| HP:0011272 | Underdeveloped tragus |
| HP:0008577 | Underfolded helix |
| HP:0008583 | Underfolded superior helices |
| HP:0003885 | Undermodeled humerus |
| HP:0003970 | Undermodelled forearm bones |
| HP:0004292 | Undermodelled hand bones |
| HP:0030474 | Undetectable dark-adapted electroretinogram |
| HP:0000550 | Undetectable electroretinogram |
| HP:0007688 | Undetectable light- and dark-adapted electroretinogram |
| HP:0030465 | Undetectable light-adapted electroretinogram |
| HP:0030844 | Undetectable pattern electroretinogram |
| HP:0007965 | Undetectable visual evoked potentials |
| HP:0010560 | Undulate clavicles |
| HP:0010561 | Undulate ribs |
| HP:0000706 | Unerupted tooth |
| HP:0001955 | Unexplained fevers |
| HP:0030203 | Unfavorable response of muscle weakness to acetylcholine esterase inhibitors |
| HP:0030719 | Unguarded tricuspid valve |
| HP:0011190 | Uni- and bilateral multifocal epileptiform discharges |
| HP:0012064 | Unicameral bone cyst |
| HP:0011315 | Unicoronal synostosis |
| HP:0012561 | Unicuspid aortic valve |
| HP:0025061 | Unifocal splenic abscess |
| HP:0011320 | Unilambdoid synostosis |
| HP:0005256 | Unilateral absence of pectoralis major muscle |
| HP:0006008 | Unilateral brachydactyly |
| HP:0012813 | Unilateral breast hypoplasia |
| HP:0005254 | Unilateral chest hypoplasia |
| HP:0100333 | Unilateral cleft lip |
| HP:0100334 | Unilateral cleft palate |
| HP:0040119 | Unilateral conductive hearing impairment |
| HP:0012741 | Unilateral cryptorchidism |
| HP:0009900 | Unilateral deafness |
| HP:0008605 | Unilateral external ear deformity |
| HP:0012799 | Unilateral facial palsy |
| HP:0011959 | Unilateral hypoplasia of pectoralis major muscle |
| HP:0030707 | Unilateral lung agenesis |
| HP:0011480 | Unilateral microphthalmos |
| HP:0011191 | Unilateral multifocal epileptiform discharges |
| HP:0007946 | Unilateral narrow palpebral fissure |
| HP:0006230 | Unilateral oligodactyly |
| HP:0006927 | Unilateral polymicrogyria |
| HP:0006549 | Unilateral primary pulmonary dysgenesis |
| HP:0007687 | Unilateral ptosis |
| HP:0011908 | Unilateral radial aplasia |
| HP:0000122 | Unilateral renal agenesis |
| HP:0008717 | Unilateral renal atrophy |
| HP:0008718 | Unilateral renal dysplasia |
| HP:0012583 | Unilateral renal hypoplasia |
| HP:0010877 | Unilateral strabismus |
| HP:0005036 | Unilateral ulnar hypoplasia |
| HP:0030323 | Unilateral vertebral artery hypoplasia |
| HP:0008757 | Unilateral vocal cord paralysis |
| HP:0012821 | Unilateral vocal cord paresis |
| HP:0012454 | Unilateral wrist flexion contracture |
| HP:0011773 | Uninodular goiter |
| HP:0011549 | Univentricular heart with absent left sided atrioventricular connection |
| HP:0030290 | Unossified sacrum |
| HP:0004606 | Unossified vertebral bodies |
| HP:0002317 | Unsteady gait |
| HP:0007560 | Unusual dermatoglyphics |
| HP:0011477 | Upbeat nystagmus |
| HP:0025331 | Upgaze palsy |
| HP:0009909 | Uplifted earlobe |
| HP:0002781 | Upper airway obstruction |
| HP:0030310 | Upper extremity joint dislocation |
| HP:0000636 | Upper eyelid coloboma |
| HP:0012724 | Upper eyelid edema |
| HP:0009129 | Upper limb amyotrophy |
| HP:0100560 | Upper limb asymmetry |
| HP:0200049 | Upper limb hypertonia |
| HP:0003856 | Upper limb metaphyseal widening |
| HP:0040265 | Upper limb muscle hypertrophy |
| HP:0009016 | Upper limb muscle hypoplasia |
| HP:0003484 | Upper limb muscle weakness |
| HP:0012513 | Upper limb pain |
| HP:0009814 | Upper limb peromelia |
| HP:0009813 | Upper limb phocomelia |
| HP:0007351 | Upper limb postural tremor |
| HP:0006986 | Upper limb spasticity |
| HP:0009824 | Upper limb undergrowth |
| HP:0100268 | Upper lip pit |
| HP:0002493 | Upper motor neuron dysfunction |
| HP:0003850 | Upper-limb metaphyseal irregularity |
| HP:0000582 | Upslanted palpebral fissure |
| HP:0010805 | Upturned corners of mouth |
| HP:0012618 | Urachal cyst |
| HP:0100525 | Urachus fistula |
| HP:0012127 | Uraciluria |
| HP:0012572 | Ureter duplex |
| HP:0012571 | Ureter fissus |
| HP:0012300 | Ureteral agenesis |
| HP:0005999 | Ureteral atresia |
| HP:0000073 | Ureteral duplication |
| HP:0008631 | Ureteral dysgenesis |
| HP:0006000 | Ureteral obstruction |
| HP:0000071 | Ureteral stenosis |
| HP:0008705 | Ureteral triplication |
| HP:0000070 | Ureterocele |
| HP:0000074 | Ureteropelvic junction obstruction |
| HP:0030735 | Ureterovesical junction obstruction |
| HP:0008714 | Ureterovesical stenosis |
| HP:0000068 | Urethral atresia |
| HP:0000067 | Urethral atresia, female |
| HP:0000052 | Urethral atresia, male |
| HP:0008722 | Urethral diverticulum |
| HP:0010480 | Urethral fistula |
| HP:0000796 | Urethral obstruction |
| HP:0008664 | Urethral sphincter sclerosis |
| HP:0008661 | Urethral stenosis |
| HP:0012227 | Urethral stricture |
| HP:0010481 | Urethral valve |
| HP:0100821 | Urethrocele |
| HP:0008716 | Urethrovaginal fistula |
| HP:0000791 | Uric acid nephrolithiasis |
| HP:0008651 | Uric acid urolithiasis independent of gout |
| HP:0100577 | Urinary bladder inflammation |
| HP:0002839 | Urinary bladder sphincter dysfunction |
| HP:0012061 | Urinary excretion of sialylated oligosaccharides |
| HP:0003541 | Urinary glycosaminoglycan excretion |
| HP:0000019 | Urinary hesitancy |
| HP:0000020 | Urinary incontinence |
| HP:0000016 | Urinary retention |
| HP:0000809 | Urinary tract atresia |
| HP:0000012 | Urinary urgency |
| HP:0012237 | Urocanic aciduria |
| HP:0100589 | Urogenital fistula |
| HP:0100779 | Urogenital sinus anomaly |
| HP:0001025 | Urticaria |
| HP:0030351 | Urticarial plaque |
| HP:0000139 | Uterine prolapse |
| HP:0100718 | Uterine rupture |
| HP:0030712 | Uterine synechiae |
| HP:0003762 | Uterus didelphys |
| HP:0025358 | Uveal ectropion |
| HP:0000554 | Uveitis |
| HP:0001922 | Vacuolated lymphocytes |
| HP:0000148 | Vaginal atresia |
| HP:0030365 | Vaginal birth after Caesarian |
| HP:0004320 | Vaginal fistula |
| HP:0100674 | Vaginal hematocele |
| HP:0100672 | Vaginal hernia |
| HP:0100673 | Vaginal hydrocele |
| HP:0100676 | Vaginal lymphocele |
| HP:0030161 | Vaginal pruritus |
| HP:0100675 | Vaginal pyocele |
| HP:0030017 | Vaginismus |
| HP:0030683 | Vaginitis |
| HP:0006228 | Valgus hand deformity |
| HP:0012870 | Vanishing testis |
| HP:0012871 | Varicocele |
| HP:0002619 | Varicose veins |
| HP:0006362 | Varus deformity of humeral neck |
| HP:0004934 | Vascular calcification |
| HP:0009922 | Vascular remnant arising from the disc |
| HP:0010775 | Vascular ring |
| HP:0011276 | Vascular skin abnormality |
| HP:0004948 | Vascular tortuosity |
| HP:0002633 | Vasculitis |
| HP:0200029 | Vasculitis in the skin |
| HP:0012668 | Vasovagal syncope |
| HP:0011164 | Vegetative auras |
| HP:0030713 | Vein of Galen aneurysmal malformation |
| HP:0030659 | Velamentous cord insertion |
| HP:0000220 | Velopharyngeal insufficiency |
| HP:0002624 | Venous abnormality |
| HP:0005293 | Venous insufficiency |
| HP:0012721 | Venous malformation |
| HP:0025322 | Venous occlusion |
| HP:0004936 | Venous thrombosis |
| HP:0002626 | Venous varicosities of celiac and mesenteric vessels |
| HP:0005946 | Ventilator dependence with inability to wean |
| HP:0011412 | Ventouse delivery |
| HP:0002933 | Ventral hernia |
| HP:0012435 | Ventral shortening of foreskin |
| HP:0006698 | Ventricular aneurysm |
| HP:0004308 | Ventricular arrhythmia |
| HP:0005155 | Ventricular escape rhythms |
| HP:0006682 | Ventricular extrasystoles |
| HP:0001663 | Ventricular fibrillation |
| HP:0011841 | Ventricular flutter |
| HP:0001714 | Ventricular hypertrophy |
| HP:0004309 | Ventricular preexcitation |
| HP:0006684 | Ventricular preexcitation with multiple accessory pathways |
| HP:0001629 | Ventricular septal defect |
| HP:0004756 | Ventricular tachycardia |
| HP:0002119 | Ventriculomegaly |
| HP:0012500 | Verrucous papule |
| HP:0011175 | Versive seizures |
| HP:0008438 | Vertebral arch anomaly |
| HP:0030322 | Vertebral artery hypoplasia |
| HP:0100861 | Vertebral body sclerosis |
| HP:0008428 | Vertebral clefting |
| HP:0002953 | Vertebral compression fractures |
| HP:0002948 | Vertebral fusion |
| HP:0008442 | Vertebral hyperostosis |
| HP:0008417 | Vertebral hypoplasia |
| HP:0003422 | Vertebral segmentation defect |
| HP:0008422 | Vertebral wedging |
| HP:0010559 | Vertical clivus |
| HP:0011221 | Vertical forehead creases |
| HP:0010544 | Vertical nystagmus |
| HP:0030867 | Vertical orbital dystopia |
| HP:0000511 | Vertical supranuclear gaze palsy |
| HP:0002321 | Vertigo |
| HP:0008167 | Very long chain fatty acid accumulation |
| HP:0030733 | Vesicoallantoic abdominal wall defect |
| HP:0000076 | Vesicoureteral reflux |
| HP:0001586 | Vesicovaginal fistula |
| HP:0008568 | Vestibular areflexia |
| HP:0001751 | Vestibular dysfunction |
| HP:0001756 | Vestibular hypofunction |
| HP:0010542 | Vestibular nystagmus |
| HP:0011473 | Villous atrophy |
| HP:0012422 | Villous hypertrophy of choroid plexus |
| HP:0008760 | Violent behavior |
| HP:0025119 | Violet lip discoloration |
| HP:0006562 | Viral hepatitis |
| HP:0003558 | Viral infection-induced rhabdomyolysis |
| HP:0003271 | Visceromegaly |
| HP:0030551 | Visual acuity light perception with projection |
| HP:0030552 | Visual acuity light perception without projection |
| HP:0030553 | Visual acuity no light perception |
| HP:0030532 | Visual acuity test abnormality |
| HP:0030222 | Visual agnosia |
| HP:0011165 | Visual auras |
| HP:0001123 | Visual field defect |
| HP:0002367 | Visual hallucinations |
| HP:0000505 | Visual impairment |
| HP:0000572 | Visual loss |
| HP:0004905 | Vitamin A deficiency |
| HP:0100503 | Vitamin B1 deficiency |
| HP:0100502 | Vitamin B12 deficiency |
| HP:0100504 | Vitamin B2 deficiency |
| HP:0100497 | Vitamin B3 deficiency |
| HP:0100505 | Vitamin B5 deficiency |
| HP:0008326 | Vitamin B6 deficiency |
| HP:0100506 | Vitamin B8 deficiency |
| HP:0100510 | Vitamin C deficiency |
| HP:0100512 | Vitamin D deficiency |
| HP:0100513 | Vitamin E deficiency |
| HP:0011892 | Vitamin K deficiency |
| HP:0007677 | Vitelliform-like macular lesions |
| HP:0030643 | Vitelliform-like retinal lesions |
| HP:0001045 | Vitiligo |
| HP:0000655 | Vitreoretinal degeneration |
| HP:0007773 | Vitreoretinopathy |
| HP:0100832 | Vitreous floaters |
| HP:0030652 | Vitreous haze |
| HP:0007902 | Vitreous hemorrhage |
| HP:0030662 | Vitreous inflammatory cells |
| HP:0030661 | Vitreous snowballs |
| HP:0030832 | Vitreous strands |
| HP:0011531 | Vitritis |
| HP:0006803 | Vivid hallucinations |
| HP:0001605 | Vocal cord paralysis |
| HP:0001604 | Vocal cord paresis |
| HP:0012477 | Vocal tremor |
| HP:0002580 | Volvulus |
| HP:0002013 | Vomiting |
| HP:0100677 | Vulval varicose vein |
| HP:0030943 | Vulvodynia |
| HP:0002515 | Waddling gait |
| HP:0008452 | Wafer-thin platyspondyly |
| HP:0001038 | Warfarin-induced skin necrosis |
| HP:0001612 | Weak cry |
| HP:0007715 | Weak extraocular muscles |
| HP:0001621 | Weak voice |
| HP:0010549 | Weakness due to upper motor neuron dysfunction |
| HP:0030319 | Weakness of facial musculature |
| HP:0009077 | Weakness of long finger extensor muscles |
| HP:0004347 | Weakness of muscles of respiration |
| HP:0012507 | Weakness of orbicularis oculi muscle |
| HP:0009005 | Weakness of the intrinsic hand muscles |
| HP:0000465 | Webbed neck |
| HP:0030264 | Webbed penis |
| HP:0001824 | Weight loss |
| HP:0030828 | Wheezing |
| HP:0000346 | Whistling appearance |
| HP:0002226 | White eyebrow |
| HP:0002227 | White eyelashes |
| HP:0002211 | White forelock |
| HP:0011364 | White hair |
| HP:0025125 | White lesion of the oral mucosa |
| HP:0006812 | White mater abnormalities in the posterior periventricular region |
| HP:0007314 | White matter neuronal heterotopia |
| HP:0040190 | White scaling skin |
| HP:0025123 | White streaks/specks on enamel. |
| HP:0000260 | Wide anterior fontanel |
| HP:0008784 | Wide capital femoral epiphyses |
| HP:0010537 | Wide cranial sutures |
| HP:0006387 | Wide distal femoral metaphysis |
| HP:0003846 | Wide epiphyseal plates of the upper limbs |
| HP:0003904 | Wide epiphyses of the upper limbs |
| HP:0004261 | Wide hamate bone |
| HP:0003935 | Wide humeral diaphysis |
| HP:0003886 | Wide humerus |
| HP:0006610 | Wide intermamillary distance |
| HP:0000154 | Wide mouth |
| HP:0012810 | Wide nasal base |
| HP:0000431 | Wide nasal bridge |
| HP:0012811 | Wide nasal ridge |
| HP:0000445 | Wide nose |
| HP:0030265 | Wide penis |
| HP:0008783 | Wide proximal femoral metaphysis |
| HP:0003183 | Wide pubic symphysis |
| HP:0003973 | Wide radioulnar joints |
| HP:0006095 | Wide tufts of distal phalanges |
| HP:0004047 | Wide ulnar metaphysis |
| HP:0000910 | Wide-cupped costochondral junctions |
| HP:0005442 | Widely patent coronal suture |
| HP:0004492 | Widely patent fontanelles and sutures |
| HP:0005476 | Widely patent sagittal suture |
| HP:0006313 | Widely spaced primary teeth |
| HP:0000687 | Widely spaced teeth |
| HP:0008094 | Widely spaced toes |
| HP:0006304 | Widely-spaced incisors |
| HP:0001566 | Widely-spaced maxillary central incisors |
| HP:0012765 | Widened cerebellar subarachnoid space |
| HP:0012766 | Widened cerebral subarachnoid space |
| HP:0006200 | Widened distal phalanges |
| HP:0012679 | Widened interpedicular distance |
| HP:0006012 | Widened metacarpal shaft |
| HP:0005445 | Widened posterior fossa |
| HP:0005028 | Widened proximal tibial metaphyses |
| HP:0008798 | Widened sacrosciatic notch |
| HP:0012704 | Widened subarachnoid space |
| HP:0004571 | Widening of cervical spinal canal |
| HP:0010457 | Widening of the sacrosciatic notch |
| HP:0000349 | Widow's peak |
| HP:0100531 | Wind-swept deformity of the knees |
| HP:0001716 | Wolff-Parkinson-White syndrome |
| HP:0002224 | Woolly hair |
| HP:0040149 | Woolly scalp hair |
| HP:0002645 | Wormian bones |
| HP:0001239 | Wrist flexion contracture |
| HP:0030836 | Wrist pain |
| HP:0001225 | Wrist swelling |
| HP:0002356 | Writer's cramp |
| HP:0001114 | Xanthelasma |
| HP:0000804 | Xanthine nephrolithiasis |
| HP:0010934 | Xanthinuria |
| HP:0000991 | Xanthomatosis |
| HP:0000217 | Xerostomia |
| HP:0006042 | Y-shaped metacarpals |
| HP:0010567 | Y-shaped metatarsals |
| HP:0011367 | Yellow nails |
| HP:0007525 | Yellow subcutaneous tissue covered by thin, scaly skin |
| HP:0006286 | Yellow-brown discoloration of the teeth |
| HP:0030500 | Yellow/white lesions of the macula |
| HP:0030506 | Yellow/white lesions of the retina |
| HP:0010920 | Zonular cataract |