keyword description
HP:0000118 Phenotypic abnormality
HP:0007010 Poor fine motor coordination
HP:0009591 Abnormality of the vestibulocochlear nerve
HP:0002293 Alopecia of scalp
HP:0100576 Amaurosis fugax
HP:0009855 Osteolytic defects of the proximal phalanges of the hand
HP:0006591 Absent glenoid fossa
HP:0000849 Adrenocortical abnormality
HP:0100555 Asymmetric growth
HP:0200036 Skin nodule
HP:0008208 Parathyroid hyperplasia
HP:0001711 Abnormality of the left ventricle
HP:0006850 Hypoplasia of the ventral pons
HP:0004014 Broad radial epiphyseal plate
HP:0040149 Woolly scalp hair
HP:0025145 Rigors
HP:0009430 Broad middle phalanx of the 3rd finger
HP:0007403 Hypertrophy of skin of soles
HP:0003015 Flared metaphysis
HP:0001586 Vesicovaginal fistula
HP:0009915 Corneal asymmetry
HP:0010620 Malar prominence
HP:0011335 Frontal hirsutism
HP:0000163 Abnormality of the oral cavity
HP:0010782 Shoulder dimples
HP:0008456 C2-C3 subluxation
HP:0006536 Obstructive lung disease
HP:0002019 Constipation
HP:0005301 Persistent left superior vena cava
HP:0004454 Abnormal middle ear reflexes
HP:0012470 Setting-sun eye phenomenon
HP:0000034 Hydrocele testis
HP:0006386 Hypoplastic distal radial epiphyses
HP:0011940 Anterior wedging of T12
HP:0030897 Decreased intestinal transit time
HP:0005881 Spinal instability
HP:0006467 Limited shoulder movement
HP:0003246 Prominent scrotal raphe
HP:0002592 Gastric ulcer
HP:0100257 Ectrodactyly
HP:0011899 Hyperfibrinogenemia
HP:0009961 Partial duplication of the phalanges of the 3rd finger
HP:0000415 Abnormality of the choanae
HP:0000728 Impaired ability to form peer relationships
HP:0010256 Triangular epiphyses of the distal phalanges of the hand
HP:0010843 EEG with focal slow activity
HP:0011270 Duplicated tragus
HP:0000027 Azoospermia
HP:0002636 Aneurysm of an abdominal artery
HP:0012746 Thin toenail
HP:0010496 Hypertrophy of the lower limb
HP:0005345 Abnormality of the vena cava
HP:0009560 Curved distal phalanx of the 2nd finger
HP:0005234 Neonatal intestinal obstruction
HP:0040211 Abnormality of the skin of the palm
HP:0009215 Bracket epiphysis of the middle phalanx of the 4th finger
HP:0011423 Hyperchloremia
HP:0003271 Visceromegaly
HP:0001985 Hypoketotic hypoglycemia
HP:0003324 Generalized muscle weakness
HP:0100238 Synostosis involving bones of the upper limbs
HP:0011064 Abnormal number of incisors
HP:0000518 Cataract
HP:0010876 Abnormality of circulating protein level
HP:0030217 Limb apraxia
HP:0009917 Persistent pupillary membrane
HP:0006203 Decreased movement range in interphalangeal joints
HP:0012368 Flat face
HP:0100958 Narrow foramen obturatorium
HP:0100403 Duplication of the middle phalanx of the 5th toe
HP:0005312 Pulmonary aterial intimal fibrosis
HP:0010989 Abnormality of the intrinsic pathway
HP:0012258 Abnormal axonemal organization of respiratory motile cilia
HP:0030297 Metaphyseal chondromatosis of ulna
HP:0012807 High insertion of columella
HP:0011888 Bleeding requiring red cell transfusion
HP:0003917 Pointed humeral metaphysis
HP:0005775 Multiple skeletal anomalies
HP:0011737 Corticotropin-releasing hormone deficient adrenal insufficiency
HP:0003991 Osteosclerosis of the ulna
HP:0006466 Ankle contracture
HP:0003879 Humeral pseudarthrosis
HP:0010015 Absent epiphysis of the 1st metacarpal
HP:0000630 Abnormality of retinal arteries
HP:0007238 Nonarteriosclerotic cerebral calcification
HP:0011401 Delayed peripheral myelination
HP:0004054 Sclerosis of hand bone
HP:0040178 Increased level of platelet-activating factor
HP:0001981 Schistocytosis
HP:0004673 Decreased facial expression
HP:0009099 Median cleft palate
HP:0002070 Limb ataxia
HP:0100254 Stenosis of the medullary cavity of the long bones
HP:0003278 Square pelvis bone
HP:0010454 Acetabular spurs
HP:0006684 Ventricular preexcitation with multiple accessory pathways
HP:0005439 Maxillozygomatic hypoplasia
HP:0005115 Supraventricular arrhythmia
HP:0002054 Heavy supraorbital ridges
HP:0007063 Aplasia of the inferior half of the cerebellar vermis
HP:0030491 Choriocapillaris atrophy
HP:0001473 Metatarsal osteolysis
HP:0002624 Venous abnormality
HP:0005571 Increased renal tubular phosphate reabsorption
HP:0004835 Microspherocytosis
HP:0002585 Abnormality of the peritoneum
HP:0030399 Abnormal platelet alpha granule secretion
HP:0003351 Decreased circulating renin level
HP:0009525 Bracket epiphysis of the proximal phalanx of the 2nd finger
HP:0010137 Triangular epiphysis of the proximal phalanx of the hallux
HP:0100485 Symphalangism of the proximal phalanx of the 4th toe with the 4th metatarsal
HP:0025114 Hypergranulosis
HP:0030760 Renal fibrosis
HP:0001742 Nasal obstruction
HP:0005347 Cartilaginous trachea
HP:0002591 Polyphagia
HP:0010914 Abnormality of valine metabolism
HP:0010402 Triangular shaped proximal phalanx of the 2nd toe
HP:0001304 Torsion dystonia
HP:0009292 Broad distal phalanx of the 4th finger
HP:0010228 Absent epiphyses of the phalanges of the hand
HP:0025092 Epidermal acanthosis
HP:0030386 Abnormal class-switched memory B cell count
HP:0011180 Partial beta-EEG
HP:0030549 Unaided visual acuity 2.0 LogMAR
HP:0000870 Prolactin excess
HP:0000720 Mood swings
HP:0100569 Abnormal vertebral ossification
HP:0010272 Fragmentation of the epiphyses of the proximal phalanges of the hand
HP:0005068 Absent styloid process of ulna
HP:0009790 Hemisacrum
HP:0011210 EEG with occipital slowing
HP:0001000 Abnormality of skin pigmentation
HP:0100593 Calcification of cartilage
HP:0005945 Laryngeal obstruction
HP:0005389 Depletion of components of the alternative complement pathway
HP:0002134 Abnormality of the basal ganglia
HP:0002344 Progressive neurologic deterioration
HP:0009927 Aplasia of the nose
HP:0030807 Abnormal nail growth
HP:0007367 Atrophy/Degeneration affecting the central nervous system
HP:0008353 Neutral hyperaminoaciduria
HP:0006174 Metacarpal diaphyseal endosteal sclerosis
HP:0012280 Hepatic amyloidosis
HP:0012878 Retarded ejaculation
HP:0030544 Unaided visual acuity 0.9 LogMAR
HP:0010943 Echogenic fetal bowel
HP:0003978 Fractured radius
HP:0100957 Abnormality of the renal medulla
HP:0009064 Generalized lipodystrophy
HP:0009678 Enlarged epiphysis of the distal phalanx of the thumb
HP:0009942 Duplication of thumb phalanx
HP:0012042 Aspirin-induced asthma
HP:0012742 Thin fingernail
HP:0003456 Low urinary cyclic AMP response to PTH administration
HP:0010712 1-4 toe syndactyly
HP:0011969 Elevated luteinizing hormone
HP:0025057 Abnormality of olfactory lobe morphology
HP:0010735 Polyostotic fibrous dysplasia
HP:0008498 No permanent dentition
HP:0000550 Undetectable electroretinogram
HP:0003911 Flared humeral metaphysis
HP:0000133 Gonadal dysgenesis
HP:0007268 Aprosencephaly
HP:0008423 Spinal dysplasia
HP:0010154 Irregular epiphysis of the 1st metatarsal
HP:0030057 Autoimmune antibody positivity
HP:0000977 Soft skin
HP:0009334 Abnormality of the epiphysis of the middle phalanx of the 3rd finger
HP:0005603 Numerous congenital melanocytic nevi
HP:0003481 Segmental peripheral demyelination/remyelination
HP:0004361 Abnormality of circulating leptin level
HP:0003781 Excessive salivation
HP:0011788 Increased serum free triiodothyronine
HP:0002040 Esophageal varix
HP:0011958 Retinal perforation
HP:0005990 Thyroid hypoplasia
HP:0000691 Microdontia
HP:0003656 Decreased beta-glucocerebrosidase protein and activity
HP:0006434 Hypoplasia of proximal radius
HP:0004898 Persistent lactic acidosis
HP:0007519 Lack of subcutaneous fatty tissue
HP:0010867 Dyssynergia
HP:0004415 Pulmonary artery stenosis
HP:0011326 Anterior plagiocephaly
HP:0003930 Lytic defects of humeral diaphysis
HP:0010387 Osteolytic defects of the phalanges of the 5th toe
HP:0009244 Distal/middle symphalangism of 5th finger
HP:0007420 Spontaneous hematomas
HP:0009488 Absent epiphyses of the 2nd finger
HP:0010468 Aplasia/Hypoplasia of the testes
HP:0005235 Jejunal atresia
HP:0001857 Short distal phalanx of toe
HP:0006256 Abnormality of hand joint mobility
HP:0012433 Abnormal social behavior
HP:0003861 Broad diaphyses of the upper limbs
HP:0100878 Enlarged uterus
HP:0000197 Abnormality of parotid gland
HP:0006705 Abnormality of the atrioventricular valves
HP:0200085 Limb tremor
HP:0100790 Hernia
HP:0100520 Oliguria
HP:0011403 Abnormal umbilical cord blood vessels
HP:0007413 Nevus flammeus of the forehead
HP:0004886 Congenital laryngeal stridor
HP:0004237 Large carpal bones
HP:0012432 Chronic fatigue
HP:0010344 Deviation of the 5th toe
HP:0025150 Hypoganglionosis
HP:0011994 Abnormality of the atrial septum
HP:0006383 Progressive bowing of long bones
HP:0010956 Fetal megacystis
HP:0200138 Bilateral choanal atresia/stenosis
HP:0100072 Ivory epiphyses of the 4th toe
HP:0000286 Epicanthus
HP:0006385 Short lower limbs
HP:0012518 Abnormality of circle of Willis
HP:0011558 Double inlet to single ventricle with common atrioventricular orifice
HP:0009531 Pseudoepiphysis of the proximal phalanx of the 2nd finger
HP:0010825 Abnormality of the eleventh cranial nerve
HP:0004257 Delayed ossification of the trapezoid bone
HP:0004355 Abnormality of proteoglycan metabolism
HP:0002025 Anal stenosis
HP:0005562 Multiple renal cysts
HP:0008339 Diaminoaciduria
HP:0000982 Palmoplantar keratoderma
HP:0007824 Total ophthalmoplegia
HP:0005185 Global systolic dysfunction
HP:0008472 Prominent protruding coccyx
HP:0012084 Abnormality of skeletal muscle fiber size
HP:0010992 Stress urinary incontinence
HP:0000687 Widely spaced teeth
HP:0011688 Supraventricular tachycardia with an accessory connection mediated pathway
HP:0100154 Small epiphysis of the middle phalanx of the 3rd toe
HP:0007206 Hemimegalencephaly
HP:0010716 3-5 toe syndactyly
HP:0006976 Necrotizing encephalopathy
HP:0001853 Bifid distal phalanx of toe
HP:0011704 Sick sinus syndrome
HP:0012025 Abnormality of ornithine metabolism
HP:0012768 Neonatal asphyxia
HP:0008275 Abnormal light-adapted electroretinogram
HP:0040021 Radial deviation of the thumb
HP:0025252 Geographic tongue
HP:0009254 Fragmentation of the epiphysis of the distal phalanx of the 4th finger
HP:0001269 Hemiparesis
HP:0009878 Cerebellar ataxia associated with quadrupedal gait
HP:0003942 Synovial chondromatosis of the elbow
HP:0006597 Diaphragmatic paralysis
HP:0009395 Cone-shaped epiphyses of the 4th finger
HP:0005802 Coalescence of tarsal bones
HP:0000010 Recurrent urinary tract infections
HP:0012323 Sleep myoclonus
HP:0005354 Absent cellular immunity
HP:0010150 Bracket epiphysis of the 1st metatarsal
HP:0100781 Abnormality of the sacroiliac joint
HP:0000067 Urethral atresia, female
HP:0030137 Prolonged bleeding following circumcision
HP:0030341 Decreased circulating follicle stimulating hormone level
HP:0010915 Abnormality of pyruvate family amino acid metabolism
HP:0100476 Symphalangism affecting the distal phalanx of the 3rd toe
HP:0011447 Hyposegmentation of neutrophil nuclei
HP:0009225 Aplasia of the proximal phalanx of the 5th finger
HP:0010055 Broad hallux
HP:0002064 Spastic gait
HP:0003177 Squared iliac bones
HP:0100673 Vaginal hydrocele
HP:0001525 Severe failure to thrive
HP:0010727 Spontaneous rupture of the globe
HP:0011383 Enlarged semicircular canal
HP:0005462 Calcification of falx cerebri
HP:0200021 Down-sloping shoulders
HP:0006441 Lateral humeral condyle aplasia
HP:0007667 Cystic retinal degeneration
HP:0011547 Absent left sided atrioventricular connection
HP:0008103 Delayed tarsal ossification
HP:0009013 Congenital absence of gluteal muscles
HP:0004467 Preauricular pit
HP:0100502 Vitamin B12 deficiency
HP:0006471 Fixed elbow flexion
HP:0012808 Abnormal nasal base
HP:0011475 Persistent stapedial artery
HP:0100916 Sclerosis of middle finger phalanx
HP:0009814 Upper limb peromelia
HP:0007086 Social and occupational deterioration
HP:0009495 Pseudoepiphyses of the 2nd finger
HP:0000771 Gynecomastia
HP:0009418 Small epiphyses of the 3rd finger
HP:0011185 EEG with focal epileptiform discharges
HP:0008511 Central posterior corneal opacity
HP:0001273 Abnormality of the corpus callosum
HP:0100859 Superior mesenteric artery aneurysm
HP:0006668 Twelfth rib hypoplasia
HP:0012434 Delayed social development
HP:0004407 Bony paranasal bossing
HP:0012343 Decreased serum ferritin
HP:0012484 Abnormal dense granules
HP:0005877 Multiple small vertebral fractures
HP:0006893 Severely dysplastic cerebellum
HP:0009707 Synostosis involving the 4th metacarpal
HP:0001141 Severe visual impairment
HP:0005214 Intestinal obstruction
HP:0003189 Long nose
HP:0030855 Anterior staphyloma
HP:0008271 Abnormal cartilage collagen
HP:0030385 Increased marginal zone B cell count
HP:0003859 Cortical diaphyseal thickening of the upper limbs
HP:0005112 Dilatation of the abdominal aorta
HP:0009242 Osteolytic defects of the distal phalanx of the 5th finger
HP:0000571 Hypometric saccades
HP:0011142 Age-related nuclear cataract
HP:0005507 Hemoglobin Barts
HP:0010653 Abnormality of the falx cerebri
HP:0008232 Elevated follicle stimulating hormone
HP:0025046 Reduced brain lactate level by MRS
HP:0011471 Gastrostomy tube feeding in infancy
HP:0009515 Cone-shaped epiphysis of the middle phalanx of the 2nd finger
HP:0100258 Preaxial polydactyly
HP:0001644 Dilated cardiomyopathy
HP:0003037 Enlarged joints
HP:0006679 Granulomatous coronary arteritis
HP:0003913 Humeral metaphyseal irregularity
HP:0100571 Cardiac diverticulum
HP:0001182 Tapered finger
HP:0100103 Enlarged epiphysis of the distal phalanx of the 2nd toe
HP:0004712 Renal malrotation
HP:0000009 Functional abnormality of the bladder
HP:0007732 Lacrimal gland hypoplasia
HP:0004426 Abnormality of the cheek
HP:0009193 Pseudoepiphyses of the metacarpals
HP:0030691 Divergence nystagmus
HP:0000643 Blepharospasm
HP:0030895 Abnormal gastrointestinal motility
HP:0200042 Skin ulcer
HP:0003264 Deficiency of N-acetylglucosamine-1-phosphotransferase
HP:0007469 Palmoplantar cutis gyrata
HP:0025166 Thickened elastic fibers in the dermis
HP:0010239 Aplasia of the middle phalanx of the hand
HP:0009929 Abnormality of the columella
HP:0003160 Abnormal isoelectric focusing of serum transferrin
HP:0012747 Abnormal brainstem MRI signal intensity
HP:0030611 Retinal pigment epithelial loss on macular OCT
HP:0008180 Mildly elevated creatine phosphokinase
HP:0010861 Incomplete breech presentation
HP:0009005 Weakness of the intrinsic hand muscles
HP:0100423 Partial duplication of the proximal phalanx of the 4th toe
HP:0010162 Absent epiphyses of the toes
HP:0010250 Fragmentation of the epiphyses of the distal phalanges of the hand
HP:0030140 Oral cavity bleeding
HP:0100766 Abnormality of the lymphatic vessels
HP:0030006 Single fiber EMG abnormality
HP:0100449 Curved distal phalanx of the 3rd toe
HP:0040218 Reduced natural killer cell number
HP:0008436 Absent/hypoplastic coccyx
HP:0012471 Thick vermilion border
HP:0006473 Anterior bowing of long bones
HP:0003965 Pseudarthrosis of the forearm bones
HP:0003496 Increased IgM level
HP:3000029 Abnormality of depressor labii inferioris
HP:0011783 Thyrotoxicosis from ectopic thyroid tissue
HP:0008038 Aplastic/hypoplastic lacrimal glands
HP:0012449 Sacroiliac joint synovitis
HP:0030606 Abnormal OCT-measured macular thickness
HP:0003764 Nevus
HP:3000069 Abnormality of lateral rectus extra-ocular muscle
HP:0002987 Elbow flexion contracture
HP:0006514 Intraalveolar nodular calcifications
HP:0040191 Rectus femoris muscle atrophy
HP:0005248 Intrahepatic biliary atresia
HP:0005013 Dysplastic distal radial epiphyses
HP:0045079 Distal femoral metaphyseal irregularity
HP:0012793 Kinked brainstem
HP:0003995 Abnormality of the radial head
HP:0012202 Increased serum bile acid concentration
HP:0030625 Hyporeflective spaces on macular OCT
HP:0008639 Gonadal hypoplasia
HP:0010129 Cone-shaped epiphysis of the proximal phalanx of the hallux
HP:0200141 Small, conical teeth
HP:0002587 Projectile vomiting
HP:0011863 Abnormal sternal ossification
HP:0000897 Rachitic rosary
HP:0002374 Diminished movement
HP:0025033 Abnormality of digestive system morphology
HP:0002575 Tracheoesophageal fistula
HP:0012337 Abnormal homeostasis
HP:0003464 Abnormal cholesterol homeostasis
HP:0005105 Abnormal nasal morphology
HP:0009103 Aplasia/Hypoplasia involving the pelvis
HP:0011868 Sciatica
HP:0005483 Abnormality of the epiglottis
HP:0100610 Maternal hyperphenylalaninemia
HP:0006316 Irregularly spaced teeth
HP:0000534 Abnormality of the eyebrow
HP:0005541 Congenital agranulocytosis
HP:0008519 Abnormality of the coccyx
HP:0001723 Restrictive cardiomyopathy
HP:0012772 Abnormal upper to lower segment ratio
HP:0010936 Abnormality of the lower urinary tract
HP:0006169 Decreased mobility 3rd-5th fingers
HP:0030302 Agenesis of the anterior commissure
HP:0000553 Abnormality of the uvea
HP:0001572 Macrodontia
HP:0010180 Triangular shaped phalanges of the toes
HP:0005303 Aortic arch calcification
HP:0030853 Heterotaxy
HP:0001649 Tachycardia
HP:0010643 Midnasal atresia
HP:0007183 Focal T2 hyperintense basal ganglia lesion
HP:0025047 Abnormal brain choline level by MRS
HP:0100658 Cellulitis
HP:0000823 Delayed puberty
HP:0030592 Abnormal static perimetry test
HP:0100736 Abnormality of the soft palate
HP:0100427 Broad middle phalanx of the 5th toe
HP:0005272 Prominent nasolabial fold
HP:0003281 Increased serum ferritin
HP:0002403 Positive Romberg sign
HP:0011575 Imperforate tricuspid valve
HP:0012211 Abnormal renal physiology
HP:0009629 Aplasia/Hypoplasia of the proximal phalanx of the thumb
HP:0030384 Decreased marginal zone B cell count
HP:0004576 Sclerotic vertebral endplates
HP:0001159 Syndactyly
HP:0000799 Renal steatosis
HP:0000201 Pierre-Robin sequence
HP:0001519 Disproportionate tall stature
HP:0010263 Ivory epiphyses of the middle phalanges of the hand
HP:0001895 Normochromic anemia
HP:0004757 Paroxysmal atrial fibrillation
HP:0006929 Hypoglycemic encephalopathy
HP:0012019 Lens luxation
HP:0011076 Abnormality of premolar
HP:0003365 Arthralgia of the hip
HP:0009177 Proximal/middle symphalangism of 5th finger
HP:0002159 Heparan sulfate excretion in urine
HP:0001071 Angiokeratoma corporis diffusum
HP:0009823 Aplasia involving bones of the upper limbs
HP:0030507 Retinal crystals
HP:0004041 Cupped ulnar metaphysis
HP:0001654 Abnormality of the heart valves
HP:0010740 Osteopathia striata
HP:0005899 Metaphyseal dysostosis
HP:0001094 Iridocyclitis
HP:0011356 Regional abnormality of skin
HP:0006357 Premature loss of permanent teeth
HP:0007817 Horizontal supranuclear gaze palsy
HP:0010832 Abnormality of pain sensation
HP:0004329 Abnormality of the posterior segment of the globe
HP:0030179 Abnormal peripheral action potential amplitude
HP:0012586 Bilateral renal atrophy
HP:0007833 Anterior chamber synechiae
HP:0030906 Suck reflex
HP:0000999 Pyoderma
HP:0012448 Delayed myelination
HP:0004904 Maturity-onset diabetes of the young
HP:0040063 Decreased adipose tissue
HP:0008523 Posterior helix pit
HP:0000055 Abnormality of female external genitalia
HP:0030875 Abnormality of pulmonary circulation
HP:0008376 Nasal, dysarthic speech
HP:0007501 Streaks of hyperkeratosis along each finger onto the palm
HP:0002492 Abnormality of the corticospinal tract
HP:0012856 Abnormal scrotal rugation
HP:0011833 Overhanging nasal tip
HP:0006671 Paroxysmal atrial tachycardia
HP:0009609 Duplication of the 1st metacarpal
HP:0003565 Elevated erythrocyte sedimentation rate
HP:0003042 Elbow dislocation
HP:0012406 Hypercitraturia
HP:0002923 Rheumatoid factor positive
HP:0025081 Darier's sign
HP:0005218 Anoperineal fistula
HP:0040222 Maternal thrombophilia
HP:0005432 Transient hypogammaglobulinemia of infancy
HP:0030332 Abnormal T cell morphology
HP:0002350 Cerebellar cyst
HP:0001072 Thickened skin
HP:0001167 Abnormality of finger
HP:0012161 External carotid artery dissection
HP:0005678 Anterior atlanto-occipital dislocation
HP:0030935 Abnormality of intestinal smooth muscle morphology
HP:0009122 Aplasia/hypoplasia affecting bones of the axial skeleton
HP:0025361 Abnormality of medullary pyramid morphology
HP:0012596 Moderate proteinuria
HP:0007117 Corticospinal tract atrophy
HP:0005338 Sparse lateral eyebrow
HP:0005987 Multinodular goiter
HP:0030585 Red desaturation
HP:0009689 Enlarged thumb epiphysis
HP:0005688 Dysplastic distal thumb phalanges with a central hole
HP:0000111 Renal juxtaglomerular cell hypertrophy/hyperplasia
HP:0012792 Absent ossification of thoracic vertebral bodies
HP:0000904 Flaring of rib cage
HP:0009203 Absent epiphysis of the middle phalanx of the 5th finger
HP:0009653 Curved thumb phalanx
HP:0003977 Deformed radius
HP:0009562 Patchy sclerosis of the distal phalanx of the 2nd finger
HP:0003376 Steppage gait
HP:0007436 Hair-nail ectodermal dysplasia
HP:0010028 Bullet-shaped 1st metacarpal
HP:0001607 Subglottic stenosis
HP:0030481 Abnormal amplitude of light-adapted single flash electroretinogram
HP:0008703 Gonadal calcification
HP:0009976 Duplication of the middle phalanx of the 4th finger
HP:0010174 Broad phalanx of the toes
HP:0009378 Triangular shaped phalanges of the 5th finger
HP:0012452 Restless legs
HP:0030626 Foveal intraretinal hyporeflective spaces on macular OCT
HP:0000563 Keratoconus
HP:0005184 Prolonged QTc interval
HP:0001413 Micronodular cirrhosis
HP:0025230 Tendonitis
HP:0001010 Hypopigmentation of the skin
HP:0010941 Aplasia of the nasal bone
HP:0100062 Pseudoepiphyses of the 3rd toe
HP:0030801 Reduced visual accommodation
HP:0009889 Localized hirsutism
HP:0009269 Small epiphysis of the proximal phalanx of the 4th finger
HP:0200055 Small hand
HP:0200039 Pustule
HP:0007039 Symmetric lesions of the basal ganglia
HP:0010126 Abnormality of the epiphysis of the proximal phalanx of the hallux
HP:0030899 Pruritis on hand
HP:0004326 Cachexia
HP:0012001 EEG with generalized polyspikes
HP:0001763 Pes planus
HP:0030818 Central nail canal
HP:0030114 Absent muscle fiber dysferlin
HP:0100432 Broad distal phalanx of the 4th toe
HP:0012500 Verrucous papule
HP:0002197 Generalized seizures
HP:0010554 Cutaneous finger syndactyly
HP:0002113 Pulmonary infiltrates
HP:0100190 Triangular epiphysis of the middle phalanx of the 4th toe
HP:0009949 Duplication of the middle phalanx of the 2nd finger
HP:0002493 Upper motor neuron dysfunction
HP:0011161 Olfactory auras
HP:0001885 Short 2nd toe
HP:0001611 Nasal speech
HP:0011965 Abnormality of citrulline metabolism
HP:0011495 Abnormality of corneal epithelium
HP:0011484 Posterior synechiae of the anterior chamber
HP:0012159 Internal carotid artery dissection
HP:0012799 Unilateral facial palsy
HP:0004952 Pulmonary arteriovenous fistulas
HP:0030658 Marginal umbilical cord insertion
HP:0030920 5-minute APGAR score of 0
HP:0010222 Abnormality of the epiphysis of the 3rd metacarpal
HP:0003016 Metaphyseal widening
HP:0002060 Abnormality of the cerebrum
HP:0100083 Ivory epiphyses of the 5th toe
HP:0030748 Grade I preterm intraventricular hemorrhage
HP:0001684 Secundum atrial septal defect
HP:0001976 Reduced antithrombin III activity
HP:0030901 Pruritis on breast
HP:0009586 Symphalangism affecting the proximal phalanx of the 2nd finger
HP:0012262 Abnormal ciliary motility
HP:0010041 Short 3rd metacarpal
HP:0009160 Absent epiphysis of the proximal phalanx of the 5th finger
HP:0010714 2-4 toe syndactyly
HP:0100404 Duplication of the proximal phalanx of the 3rd toe
HP:0009419 Stippling of the epiphyses of the 3rd finger
HP:0001765 Hammertoe
HP:0011230 Laterally extended eyebrow
HP:0009054 Scapuloperoneal myopathy
HP:0030495 Abnormality of macular vasculature
HP:0001635 Congestive heart failure
HP:0200101 Decreased/absent ankle reflexes
HP:0025336 Delayed ability to sit
HP:0001622 Premature birth
HP:0008499 High-grade hypermetropia
HP:0009412 Cone-shaped epiphyses of the 3rd finger
HP:0008797 Early ossification of capital femoral epiphyses
HP:0100931 Sclerosis of the proximal phalanx of the 2nd toe
HP:0011644 Coronary sinus diverticulum
HP:0003903 Broad humeral epiphyses
HP:0002753 Thin bony cortex
HP:0100107 Pseudoepiphysis of the distal phalanx of the 2nd toe
HP:0004742 Abnormality of the renal collecting system
HP:0008757 Unilateral vocal cord paralysis
HP:0012201 Reduced prothrombin activity
HP:0100747 Macrodactyly of toe
HP:0006432 Trapezoidal distal femoral condyles
HP:0005275 Cartilaginous ossification of nose
HP:0005765 Sacral meningocele
HP:0004330 Increased skull ossification
HP:0012716 Moderate conductive hearing impairment
HP:0005849 Diffuse cerebral calcification
HP:0000658 Eyelid apraxia
HP:0100640 Laryngeal cyst
HP:0006206 Hypersegmentation of proximal phalanx of second finger
HP:0005540 Red blood cell keratocytosis
HP:0045012 Decreased urinary catecholamine concentration
HP:0004260 Large hamate bone
HP:0007836 Mosaic corneal dystrophy
HP:0100788 Fused lips
HP:0012321 D-2-hydroxyglutaric aciduria
HP:0030453 Abnormal visual electrophysiology
HP:0001531 Failure to thrive in infancy
HP:0006899 Fusion of the cerebellar hemispheres
HP:0008422 Vertebral wedging
HP:0004095 Curved fingers
HP:0000678 Dental crowding
HP:0010273 Irregular epiphyses of the proximal phalanges of the hand
HP:0012312 Monocytopenia
HP:0009575 Triangular shaped middle phalanx of the 2nd finger
HP:0000340 Sloping forehead
HP:0007787 Posterior subcapsular cataract
HP:0011033 Impairment of fructose metabolism
HP:0000280 Coarse facial features
HP:0000915 Pectus excavatum of inferior sternum
HP:0009977 Duplication of the proximal phalanx of the 4th finger
HP:0100703 Tongue thrusting
HP:0030623 Intraretinal hyporeflective spaces on macular OCT
HP:0004020 Irregular ossification of the radial metaphysis
HP:0009106 Abnormal pelvis bone ossification
HP:0009370 Type A brachydactyly
HP:0010213 Contracture of the tarsometatarsal joint of the hallux
HP:0004810 Congenital hypoplastic anemia
HP:0025155 Abnormality of hepatobiliary system physiology
HP:0012654 Abnormal CSF dopamine level
HP:0001063 Acrocyanosis
HP:0100515 Pollakisuria
HP:0011837 Partial IgA deficiency
HP:0025017 Capillary fragility
HP:0009995 Partial duplication of the middle phalanx of the 5th finger
HP:0100367 Short phalanx of the 4th toe
HP:0006476 Abnormality of the pancreatic islet cells
HP:0030110 Absent muscle fiber delta sarcoglycan
HP:0001153 Septate vagina
HP:0010968 Abnormality of liposaccharide metabolism
HP:0001401 Intrahepatic biliary dysgenesis
HP:0045045 Elevated plasma acylcarnitine levels
HP:0011576 Intermediate atrioventricular canal defect
HP:0002342 Intellectual disability, moderate
HP:0000594 Shallow anterior chamber
HP:0100699 Scarring
HP:0006350 Obliteration of the pulp chamber
HP:0007627 Mandibular condyle aplasia
HP:0003944 Narrow joint spaces of the elbow
HP:0011740 Glucocortocoid-insensitive primary hyperaldosteronism
HP:0010525 Finger agnosia
HP:0002195 Dysgenesis of the cerebellar vermis
HP:0012553 Hypoplastic thumbnail
HP:0003308 Cervical subluxation
HP:0045054 Brachial plexus neuropathy
HP:0003088 Premature osteoarthritis
HP:0000448 Prominent nose
HP:0002500 Abnormality of the cerebral white matter
HP:0006516 Hypersensitivity pneumonitis
HP:0004689 Short fourth metatarsal
HP:0011333 Asymmetric crying face
HP:0002869 Flared iliac wings
HP:0004223 Ivory epiphysis of the distal phalanx of the 5th finger
HP:0011680 Single ventricle of indeterminate morphology
HP:0011667 Bilateral superior vena cava with bridging vein
HP:0005700 Increased bone density with cystic changes
HP:0011769 Ectopic parathyroid
HP:0006488 Bowing of the arm
HP:0025013 Decerebrate rigidity
HP:0006565 Increased hepatocellular lipid droplets
HP:0000889 Abnormality of the clavicle
HP:0012185 Constrictive median neuropathy
HP:0004388 Microcolon
HP:0030902 Palmomental reflex
HP:0009398 Irregular epiphyses of the 4th finger
HP:0009779 3-4 toe syndactyly
HP:0003198 Myopathy
HP:0025364 Extracapillary hypercellularity
HP:0006994 Diffuse leukoencephalopathy
HP:0002614 Hepatic periportal necrosis
HP:0030242 Portal vein thrombosis
HP:0025044 Lung abscess
HP:0001663 Ventricular fibrillation
HP:0030088 Increased serum testosterone level
HP:0030353 Decreased serum insulin-like growth factor 1
HP:0009518 Irregular epiphysis of the middle phalanx of the 2nd finger
HP:0000104 Renal agenesis
HP:0011272 Underdeveloped tragus
HP:0030345 Abnormal circulating luteinizing hormone level
HP:0010057 Abnormality of the phalanges of the hallux
HP:0009768 Broad phalanges of the hand
HP:0010547 Muscle flaccidity
HP:0100541 Femoral hernia
HP:0030924 5-minute APGAR score of 4
HP:0004338 Abnormality of aromatic amino acid family metabolism
HP:0025370 Abnormal ossification of the sacrum
HP:0010569 Elevated 7-dehydrocholesterol
HP:0005308 Pulmonary artery vasoconstriction
HP:0011988 Ectopic ossification in tendon tissue
HP:0011850 Parotitis
HP:0100168 Fragmented epiphyses
HP:0000656 Ectropion
HP:0001552 Barrel-shaped chest
HP:0008785 Delayed ossification of pubic rami
HP:0007687 Unilateral ptosis
HP:0030512 Difficulty adjusting to changes in luminance
HP:0010509 Aplasia of the tarsal bones
HP:0005934 Imperfect vocal cord adduction
HP:0030659 Velamentous cord insertion
HP:0008962 Calf muscle hypoplasia
HP:0011353 Arterial intimal fibrosis
HP:0001270 Motor delay
HP:0010746 Hypoplasia of the phalanges of the toes
HP:0030263 Torsion of the penis
HP:0011754 Pituicytoma
HP:0009338 Enlarged epiphysis of the distal phalanx of the 3rd finger
HP:0030661 Vitreous snowballs
HP:0030641 Incomplete congenital stationary night blindness
HP:3000015 Abnormality of risorius muscle
HP:0000139 Uterine prolapse
HP:0011041 Aplasia/Hypoplasia of the cervical spine
HP:0000322 Short philtrum
HP:0010661 Absence of the third cerebral ventricle
HP:0003445 EMG: neuropathic changes
HP:0030619 Reduced OCT-measured foveal thickness
HP:0010629 Abnormality of the cortex of the humerus
HP:0005437 Recurrent infections in infancy and early childhood
HP:0030005 Capillary leak
HP:0010398 Curved proximal phalanx of the 2nd toe
HP:0010858 EEG with hyperventilation-induced epileptiform discharges
HP:0008872 Feeding difficulties in infancy
HP:0011602 Midline direction of ventricular apex
HP:0012905 Euryblepharon
HP:0200083 Severe limb shortening
HP:0007035 Anterior encephalocele
HP:0010561 Undulate ribs
HP:0012077 Histrionic personality disorder
HP:0009561 Osteolytic defects of the distal phalanx of the 2nd finger
HP:0007623 Pigmentation anomalies of sun-exposed skin
HP:0012027 Laryngeal edema
HP:0008459 Cervical vertebral agenesis
HP:0012266 T-wave alternans
HP:0001950 Respiratory alkalosis
HP:0100936 Sclerosis of the middle phalanx of the 3rd toe
HP:0003548 Subsarcolemmal accumulations of abnormally shaped mitochondria
HP:0005121 Posterior scalloping of vertebral bodies
HP:0100274 Gustatory lacrimation
HP:0009140 Synostosis involving bones of the feet
HP:0005198 Stiff interphalangeal joints
HP:0011666 Absent right superior vena cava
HP:0009785 Triceps aplasia
HP:0011413 Shoulder dystocia
HP:0007271 Occipital myelomeningocele
HP:0000221 Furrowed tongue
HP:0006366 Adductor longus contractures
HP:0001961 Hypoplastic heart
HP:0100260 Mesoaxial polydactyly
HP:0100710 Impulsivity
HP:0003771 Pulp stones
HP:0008205 Insulin-dependent but ketosis-resistant diabetes
HP:0010852 EEG with photoparoxysmal response
HP:0007179 Absent smooth pursuit
HP:0006277 Pancreatic hyperplasia
HP:0002152 Hyperproteinemia
HP:0002089 Pulmonary hypoplasia
HP:0011339 Abnormality of upper lip vermillion
HP:0000187 Broad alveolar ridges
HP:0010410 Symphalangism affecting the middle phalanx of the 2nd toe
HP:0009685 Triangular epiphysis of the distal phalanx of the thumb
HP:0040159 Abnormal spaced incisors
HP:0003140 T-wave inversion in the right precordial leads
HP:0004013 Medially fused radial epiphyseal plates
HP:0040133 Abnormal serum ferritin
HP:0025086 Bloody mucoid diarrhea
HP:0002758 Osteoarthritis
HP:0100851 Abnormal emotion/affect behavior
HP:0004496 Posterior choanal atresia
HP:0030101 Absent muscle fiber alpha sarcoglycan
HP:0030531 Altitudinal visual field defect
HP:0005486 Small fontanelle
HP:0025094 Disciform macular scar
HP:0011943 Increased urinary thiosulfate
HP:0003010 Prolonged bleeding time
HP:0030002 Nocturnal lagophthalmos
HP:0010190 Patchy sclerosis of distal toe phalanx
HP:0004863 Compensated hemolytic anemia
HP:0002131 Episodic ataxia
HP:0007917 Tractional retinal detachment
HP:0001903 Anemia
HP:0010405 Broad middle phalanx of the 2nd toe
HP:0011166 Focal myoclonic seizures
HP:0002566 Intestinal malrotation
HP:0008755 Laryngotracheomalacia
HP:0000834 Abnormality of the adrenal glands
HP:0001922 Vacuolated lymphocytes
HP:0006801 Hyperactive deep tendon reflexes
HP:0012686 Increased pineal volume
HP:0100583 Corneal perforation
HP:0025087 Delayed recoil upon stretching of skin {xref="PMID:23919031"}
HP:0000288 Abnormality of the philtrum
HP:0000420 Short nasal septum
HP:0003077 Hyperlipidemia
HP:0004333 Bone-marrow foam cells
HP:0100157 Absent epiphysis of the proximal phalanx of the 3rd toe
HP:0004238 Lytic defects of carpal bones
HP:0025149 Atrophic muscularis propria
HP:0030312 Obliteration of the calvarial diploe
HP:0003634 Amyoplasia
HP:0002804 Arthrogryposis multiplex congenita
HP:0030271 Reduced erythrocyte 2,3-diphosphoglycerate concentration
HP:0001104 Macular hypoplasia
HP:0040147 L-2-hydroxyglutaric acidemia
HP:0004343 Abnormality of glycosphingolipid metabolism
HP:0001620 High pitched voice
HP:0010588 Premature epimetaphyseal fusion
HP:0004852 Reduced leukocyte alkaline phosphatase
HP:0011571 Parachute mitral valve
HP:0010828 Hemifacial spasm
HP:0012643 Foveal hypopigmentation
HP:0005384 Defective B cell activation
HP:0040082 Happy demeanor
HP:0011152 Early onset absence seizures
HP:0007385 Aplasia cutis congenita of scalp
HP:0001818 Paronychia
HP:0012708 Reduced brain N-acetyl aspartate level by MRS
HP:0005868 Metaphyseal enchondromatosis
HP:0000396 Overfolded helix
HP:0000497 Globe retraction and deviation on abduction
HP:0030729 Frontoethmoidal meningocele
HP:0010582 Irregular epiphyses
HP:0012137 Abnormal number of granulocyte precursors
HP:0100592 Peritoneal abscess
HP:0040242 Muscle haemorrhage
HP:0008226 Androgen insufficiency
HP:0100654 Retrobulbar optic neuritis
HP:0011956 Intestinal lymphoid nodular hyperplasia
HP:0010029 Curved 1st metacarpal
HP:0030261 Absent penis
HP:0008740 Longitudinal vaginal septum
HP:0007720 Flat cornea
HP:0010076 Aplasia/Hypoplasia of the distal phalanx of the hallux
HP:0009283 Abnormality of the middle phalanx of the 4th finger
HP:0010750 Dermatochalasis
HP:0100413 Complete duplication of the proximal phalanx of the 3rd toe
HP:0030457 Abnormal amplitude of pattern onset/offset visual evoked potentials
HP:0004058 Hand monodactyly
HP:0100117 Ivory epiphysis of the middle phalanx of the 2nd toe
HP:0004894 Laryngotracheal stenosis
HP:0006092 Malaligned carpal bone
HP:0010118 Irregular epiphyses of the hallux
HP:0005059 Arthralgia/arthritis
HP:0030024 Pretragal ectopia
HP:0030684 Abnormal adiponectin level
HP:0002851 Increased number of CD4-/CD8- T cells expressing alpha/beta T-cell receptors
HP:0001790 Nonimmune hydrops fetalis
HP:0008089 Abnormality of the fifth metatarsal bone
HP:0004049 Decreased carpal angles of wrist
HP:0002057 Prominent glabella
HP:0011256 Crus of helix connected to antihelix
HP:0003756 Skeletal myopathy
HP:0030844 Undetectable pattern electroretinogram
HP:0030826 Eyelid fasciculation
HP:0010522 Dyslexia
HP:0025341 Corneal keratic precipitates
HP:0005991 Limited neck flexion
HP:0030299 Distal femoral metaphyseal abnormality
HP:0006689 Bacterial endocarditis
HP:0002948 Vertebral fusion
HP:0100922 Sclerosis of thumb phalanx
HP:0000613 Photophobia
HP:0004289 Sclerotic foci in hand bones
HP:0001241 Capitate-hamate fusion
HP:0006882 Severe hydrocephalus
HP:0001949 Hypokalemic alkalosis
HP:0010890 Morbus Osgood-Schlatter
HP:0040228 Decreased level of plasminogen
HP:0000552 Tritanomaly
HP:0100946 Sclerosis of proximal toe phalanx
HP:0001743 Abnormality of the spleen
HP:0000337 Broad forehead
HP:0011623 Muscular ventricular septal defect
HP:0007850 Retinal vascular proliferation
HP:0000579 Nasolacrimal duct obstruction
HP:0030058 Sickled erythrocytes
HP:0010868 Ocular dyssynergia
HP:0005750 Contractures of the joints of the lower limbs
HP:0004292 Undermodelled hand bones
HP:0010510 Hypermobility of toe joints
HP:0011502 Posterior lenticonus
HP:0000517 Abnormality of the lens
HP:0025030 Enteric neuronal degeneration
HP:0001142 Lenticonus
HP:0011412 Ventouse delivery
HP:0002870 Obstructive sleep apnea
HP:0002067 Bradykinesia
HP:0007830 Adult-onset night blindness
HP:0030466 Abnormal full-field electroretinogram
HP:0010471 Oligosacchariduria
HP:0012775 Stellate iris
HP:0000075 Renal duplication
HP:0012264 Absent central microtubular pair morphology of respiratory motile cilia
HP:0010507 Foot asymmetry
HP:0012531 Pain
HP:0004476 Aplasia cutis congenita over parietal area
HP:0100079 Cone-shaped epiphyses of the 5th toe
HP:0011838 Sclerodactyly
HP:0012811 Wide nasal ridge
HP:0030115 Reduced muscle fiber dysferlin
HP:0002247 Duodenal atresia
HP:0200056 Macular scar
HP:0100276 Skin pit
HP:0010035 Aplasia of the 1st metacarpal
HP:0007089 Facial-lingual fasciculations
HP:0008970 Scapulohumeral muscular dystrophy
HP:0001435 Abnormality of the shoulder girdle musculature
HP:0011001 Increased bone mineral density
HP:0011648 Patent ductus arteriosus after birth at term
HP:0030106 Absent muscle fiber beta sarcoglyan
HP:0010524 Agnosia
HP:0011368 Epidermal thickening
HP:0003348 Hyperalaninemia
HP:0012621 Persistent cloaca
HP:0010024 Epiphyseal stippling of the first metacarpal
HP:0010342 Abnormality of the phalanges of the 5th toe
HP:0002446 Astrocytosis
HP:0010627 Anterior pituitary hypoplasia
HP:0030028 Absent nasal cartilage
HP:0005798 Posterior radial head dislocation
HP:0007441 Hyperpigmented/hypopigmented macules
HP:0005494 Premature posterior fontanelle closure
HP:0011605 Congenitally corrected transposition of the great arteries with ventricular septal defect
HP:0005041 Irregular capital femoral epiphysis
HP:0011900 Hypofibrinogenemia
HP:0006528 Chronic lung disease
HP:0030059 Mitochondrial depletion
HP:0040080 Anteverted ears
HP:0011300 Broad fingertip
HP:0011747 Abnormality of the anterior pituitary
HP:0100909 Sclerosis of the proximal phalanx of the 3rd finger
HP:0007301 Oromotor apraxia
HP:0009428 Curved distal phalanx of the 3rd finger
HP:0011037 Decreased urine output
HP:0001557 Prenatal movement abnormality
HP:0003989 Notched ulna
HP:0010691 Mirror image foot polydactyly
HP:0005807 Absent distal phalanges
HP:0001232 Nail bed telangiectasia
HP:0005563 Decreased numbers of nephrons
HP:0003853 Sclerosis with transverse striations in metaphyses of the upper limbs
HP:0012194 Episodic hemiplegia
HP:0010863 Receptive language delay
HP:0010345 Flexion contracture of the 5th toe
HP:0002717 Adrenal overactivity
HP:0002333 Motor deterioration
HP:0100223 Triangular epiphysis of the middle phalanx of the 5th toe
HP:0012106 Rhizomelic leg shortening
HP:0007193 Generalized tonic-clonic seizures on awakening
HP:0006830 Severe neonatal hypotonia in males
HP:0010225 Pseudoepiphysis of the 4th metacarpal
HP:0200023 Priapism
HP:0008255 Transient neonatal diabetes mellitus
HP:0012567 Premature epimetaphyseal fusion in ulna
HP:0007325 Generalized dystonia
HP:0001744 Splenomegaly
HP:0009924 Aplasia/Hypoplasia involving the nose
HP:0004699 Osteoporotic metatarsal
HP:0005866 Opposable triphalangeal thumb
HP:0002933 Ventral hernia
HP:0006119 Proximal tapering of metacarpals
HP:0003784 Type 1 collagen overmodification
HP:0010757 Aplasia of the premaxilla
HP:0010934 Xanthinuria
HP:0012079 Abnormality of central motor conduction
HP:0009523 Triangular epiphysis of the middle phalanx of the 2nd finger
HP:0011736 Primary hyperaldosteronism
HP:0002653 Bone pain
HP:0100420 Partial duplication of the middle phalanx of the 4th toe
HP:0000097 Focal segmental glomerulosclerosis
HP:0000529 Progressive visual loss
HP:3000014 Abnormality of procerus muscle
HP:0005267 Premature delivery because of cervical insufficiency or membrane fragility
HP:0009094 Cleft lower alveolar ridge
HP:0030109 Absent muscle fiber gamma sarcoglycan
HP:0001047 Atopic dermatitis
HP:0030268 Hyperplastic callus formation
HP:0012129 Abnormality of bone marrow stromal cells
HP:0003514 Deficiency or absence of cytochrome b(-245)
HP:0030765 Sleep terror
HP:0030084 Clinodactyly
HP:0010000 Complete duplication of the proximal phalanges of the hand
HP:0025108 Angioma serpentinum
HP:0004263 Large capitate bone
HP:0002925 Thyroid-stimulating hormone excess
HP:0011712 Right bundle branch block
HP:0007670 Abnormal vestibulo-ocular reflex
HP:0004235 Comma-shaped carpal bones
HP:0011593 Left aortic arch with retroesophageal diverticulum of Kommerell
HP:0010224 Abnormality of the epiphysis of the 4th metacarpal
HP:0005776 Carpal bone malsegmentation
HP:0100055 Absent epiphyses of the 3rd toe
HP:0100494 Abnormality of mast cells
HP:0004813 Post-transfusion thrombocytopenia
HP:0100807 Long fingers
HP:0006560 Biliary hyperplasia
HP:0002121 Absence seizures
HP:0040185 Macrothrombocytopenia
HP:0005089 Abnormal metaphyseal trabeculation
HP:0030543 Unaided visual acuity 0.8 LogMAR
HP:0005314 Anomalous branches of internal carotid artery
HP:0010891 Morbus Scheuermann
HP:0000278 Retrognathia
HP:0011141 Age-related cataract
HP:0030158 Cervical ectropion
HP:0011537 Left atrial isomerism
HP:0009227 Broad proximal phalanx of the 5th finger
HP:0001003 Multiple lentigines
HP:0011488 Abnormality of corneal endothelium
HP:0100132 Triangular epiphysis of the proximal phalanx of the 2nd toe
HP:0008647 Pubertal developmental failure in females
HP:0012298 Long middle phalanx of finger
HP:0030921 5-minute APGAR score of 1
HP:0005820 Superior rib anomalies
HP:0009310 Broad proximal phalanx of the 4th finger
HP:0010308 Asternia
HP:0002322 Resting tremor
HP:0004312 Abnormality of reticulocytes
HP:0005346 Abnormal facial expression
HP:0100339 Abnormality of the os naviculare pedis
HP:0002561 Absent nipple
HP:0009954 Complete duplication of the proximal phalanx of the 2nd finger
HP:0030280 Rib gap
HP:0011713 Left bundle branch block
HP:0009912 Abnormality of the tragus
HP:0012097 Intracranial dermoid cyst
HP:0030121 Reduced muscle fiber calpain-3
HP:0030894 Insufficient response to short acting pulmonary vasodilator
HP:0045027 Abnormality of the thoracic cavity
HP:0000997 Axillary freckling
HP:0100150 Fragmentation of the epiphysis of the middle phalanx of the 3rd toe
HP:0002682 Broad skull
HP:0030344 Decreased circulating luteinizing hormone level
HP:0000561 Absent eyelashes
HP:0010321 Abnormality of the 4th toe
HP:0004981 Prominent styloid process of ulna
HP:0011743 Adrenal gland agenesis
HP:0002425 Anarthria
HP:0003896 Irregular humeral epiphyses
HP:0003996 Flattened radial head
HP:0000967 Petechiae
HP:0011570 Congenital mitral stenosis
HP:0009165 Stippling of the epiphysis of the distal phalanx of the 5th finger
HP:0003153 Cystathioninuria
HP:0011376 Morphological abnormality of the vestibule of the inner ear
HP:0006988 Alobar holoprosencephaly
HP:0010155 Ivory epiphysis of the 1st metatarsal
HP:0009665 Bracket epiphysis of the proximal phalanx of the thumb
HP:0000481 Abnormality of the cornea
HP:0004008 Sloping radial epiphyses
HP:0009394 Bracket epiphyses of the 4th finger
HP:0001905 Congenital thrombocytopenia
HP:0030890 Hyperintensity of cerebral white matter on MRI
HP:0006349 Agenesis of permanent teeth
HP:0001357 Plagiocephaly
HP:0008251 Congenital goiter
HP:0001132 Lens subluxation
HP:0009803 Short phalanx of finger
HP:0003941 Stippled calcification of the elbow
HP:0006156 Ulnar deviation of thumb
HP:0010440 Ectopic accesory toe-like appendage
HP:0030132 Absence of large von Willibrand factor multimers
HP:0007866 Retinal infarction
HP:0012534 Dysesthesia
HP:0006825 Pallor of dorsal columns of the spinal cord
HP:0004404 Abnormality of the nipple
HP:0011906 Reduced beta/alpha synthesis ratio
HP:0011577 Partial atrioventricular canal defect
HP:0007585 Skin fragility with non-scarring blistering
HP:0010260 Enlarged epiphyses of the middle phalanges of the hand
HP:0004637 Decreased cervical spine mobility
HP:0003336 Abnormal enchondral ossification
HP:0100304 Muscle fiber intranuclear inclusion bodies
HP:0011785 Thyrotoxicosis with toxic multinodular goitre
HP:0005101 High-frequency hearing impairment
HP:0005375 Partial cellular immunodeficiency
HP:0100762 Hemobilia
HP:0000339 Pugilistic facies
HP:0100678 Premature skin wrinkling
HP:0000877 Insulin-resistant diabetes mellitus at puberty
HP:0006709 Aplasia/Hypoplasia of the nipples
HP:0006692 Short chordae tendineae of the tricuspid valve
HP:0000426 Prominent nasal bridge
HP:0002211 White forelock
HP:0008677 Congenital nephrotic syndrome
HP:0001492 Axenfeld anomaly
HP:0004926 Orthostatic hypotension due to autonomic dysfunction
HP:0004987 Mesomelic leg shortening
HP:0006446 Dysplastic patella
HP:0001771 Achilles tendon contracture
HP:0025169 Left ventricular systolic dysfunction
HP:0006552 Fibrocystic lung disease
HP:0025182 Localized area of pendulous skin
HP:0007409 Absence of subcutaneous fat over entire body except buttocks, hips, and thighs
HP:0012047 Hemeralopia
HP:0001724 Aortic dilatation
HP:0009042 Marked muscular hypertrophy
HP:0000085 Horseshoe kidney
HP:0100385 Aplasia of the proximal phalanx of the 4th toe
HP:0030872 Abnormal cardiac ventricular function
HP:0011853 Serous pericardial effusion
HP:0008633 Absent gonadal tissue
HP:0030947 Conjunctival follicles
HP:0011832 Narrow nasal tip
HP:0100862 Aplasia of the femoral head
HP:0002827 Hip dislocation
HP:0012589 Multidrug-resistant nephrotic syndrome
HP:0011724 Uhl's anomaly
HP:0003562 Abnormal metaphyseal vascular invasion
HP:0003875 Humeral lytic defects
HP:0003876 Osteoporotic humerus
HP:0009046 Difficulty running
HP:0200047 Chondritis of pinna
HP:0010584 Pseudoepiphyses
HP:0011884 Abnormal umbilical stump bleeding
HP:0009144 Supernumerary bones of the axial skeleton
HP:0001257 Spasticity
HP:0001338 Partial agenesis of the corpus callosum
HP:0008794 Dysplastic iliac wings
HP:0011566 Cor triatriatum dexter
HP:0008418 Squared-off platyspondyly
HP:0003162 Fasting hypoglycemia
HP:0000768 Pectus carinatum
HP:0010209 Symphalangism affecting the proximal phalanges of the toes
HP:0030244 Maternal fever in pregnancy
HP:0009221 Pseudoepiphysis of the middle phalanx of the 4th finger
HP:0006167 Prominent proximal interphalangeal joints
HP:0025351 Recurrent interdigital mycosis
HP:0012644 Increased caudate lactate level
HP:0010918 Abnormality of cysteine metabolism
HP:0100179 Triangular epiphysis of the distal phalanx of the 4th toe
HP:0012880 Abnormality of the labia minora
HP:0007649 Congenital hypertrophy of retinal pigment epithelium
HP:0009913 Aplasia/Hypoplasia of the tragus
HP:0012690 T2 hypointense thalamus
HP:0001360 Holoprosencephaly
HP:0100343 Tibial deviation of the 3rd toe
HP:0002738 Hypoplastic frontal sinuses
HP:0007773 Vitreoretinopathy
HP:0011678 Tetralogy of Fallot with pulmonary atresia and major aortopulmonary collateral arteries
HP:0012464 Decreased transferrin saturation
HP:0030547 Unaided visual acuity 1.2 LogMAR
HP:0001998 Neonatal hypoglycemia
HP:0000893 Bulging of the costochondral junction
HP:0025007 Ectopic fovea
HP:0011024 Abnormality of the gastrointestinal tract
HP:0008083 2nd-5th toe middle phalangeal hypoplasia
HP:0012117 Hyperalbuminemia
HP:0001671 Abnormality of the cardiac septa
HP:0009888 Abnormality of secondary sexual hair
HP:0100219 Ivory epiphysis of the middle phalanx of the 5th toe
HP:0003393 Thenar muscle atrophy
HP:0012814 Bilateral breast hypoplasia
HP:0030095 Reduced muscle collagen VI
HP:0007162 Diffuse demyelination of the cerebral white matter
HP:0100478 Symphalangism affecting the distal phalanx of the 5th toe
HP:0001545 Anteriorly placed anus
HP:0100453 Osteolytic defects of the middle phalanx of the 4th toe
HP:0010690 Mirror image hand polydactyly
HP:0011930 Hyperextensible skin of chest
HP:0030361 Abnormality of eicosanoid metabolism
HP:0006986 Upper limb spasticity
HP:0009747 Lumbosacral hirsutism
HP:0002750 Delayed skeletal maturation
HP:0004544 Pointed frontal hairline
HP:0040187 Neonatal sepsis
HP:0006278 Ectopic pancreatic tissue
HP:0011426 Fetal choroid plexus cysts
HP:0012151 Hemothorax
HP:0030017 Vaginismus
HP:0000991 Xanthomatosis
HP:0012733 Macule
HP:0006607 Precocious costochondral ossification
HP:0003510 Severe short stature
HP:0000976 Eczematoid dermatitis
HP:0011883 Abnormal platelet granules
HP:0011782 Thyroid crisis
HP:0002505 Progressive inability to walk
HP:3000035 Abnormality of cervical plexus
HP:0030472 Abnormal light-adapted single flash electroretinogram
HP:0002508 Brainstem dysplasia
HP:0004566 Pear-shaped vertebrae
HP:0012050 Anasarca
HP:0011626 Scimitar anomaly
HP:0011563 Abnormal ventriculo-arterial connection
HP:0000493 Abnormality of the fovea
HP:0100875 Hemimacroglossia
HP:0100217 Fragmentation of the epiphysis of the middle phalanx of the 5th toe
HP:0007187 Focal lissencephaly
HP:0012632 Abnormal intraocular pressure
HP:0009572 Osteolytic defects of the middle phalanx of the 2nd finger
HP:0011816 Parietal encephalocele
HP:0012669 Carotid sinus syncope
HP:0002120 Cerebral cortical atrophy
HP:0430023 Abnormality of the maxillary sinus
HP:0001464 Aplasia/Hypoplasia involving the shoulder musculature
HP:0003535 3-Methylglutaconic aciduria
HP:0100315 Lewy bodies
HP:0009787 Aplasia/Hypoplasia of the quadriceps
HP:0007410 Palmoplantar hyperhidrosis
HP:0009744 Abnormality of the spinal dura mater
HP:0008321 Reduced factor X activity
HP:0006106 Absent trapezoid bone
HP:0000307 Pointed chin
HP:0030199 Fatigable weakness of neck muscles
HP:0001220 Interphalangeal joint contracture of finger
HP:0012614 Abnormal urine cytology
HP:0009978 Complete duplication of the distal phalanx of the 4th finger
HP:0005923 Abnormalities of the metaphyses of the hand
HP:0006494 Aplasia/Hypoplasia involving bones of the feet
HP:0006493 Aplasia/hypoplasia involving bones of the lower limbs
HP:0002584 Intestinal bleeding
HP:0011229 Broad eyebrow
HP:0009583 Curved proximal phalanx of the 2nd finger
HP:0100370 Aplasia/Hypoplasia of the distal phalanx of the 4th toe
HP:0040044 Hypoplasia of the diaphragm
HP:0025005 Thickening of glomerular capillary wall
HP:0030598 Abnormal Humphrey SITA 10-2 perimetry test
HP:0009247 Abnormality of the epiphysis of the middle phalanx of the 4th finger
HP:0005254 Unilateral chest hypoplasia
HP:0007692 Nonnuclear polymorphic congenital cataract
HP:0000914 Shield chest
HP:0012877 Retrograde ejaculation
HP:0040239 Increased plasma vitamin K epoxide after vitamin K supplementation
HP:0007894 Hypopigmentation of the fundus
HP:0007854 Glaucomatous visual field defect
HP:0003418 Back pain
HP:0000587 Abnormality of the optic nerve
HP:0011844 Abnormal appendicular skeleton morphology
HP:0008743 Coronal hypospadias
HP:0002224 Woolly hair
HP:0012282 Morbilliform rash
HP:0003166 Increased urinary taurine
HP:0030550 Unaided visual acuity 3.0 LogMAR
HP:0430007 Symblepharon
HP:0012724 Upper eyelid edema
HP:0003928 Cortical thickening of humeral diaphysis
HP:0001708 Right ventricular failure
HP:0011115 Abnormality of chemokine secretion
HP:0030730 Parietal meningocele
HP:0005210 Hypoplastic colon
HP:0010917 Abnormality of tyrosine metabolism
HP:0003244 Penile hypospadias
HP:0000676 Abnormality of the incisor
HP:0100311 Cerebral ventricular adhesions
HP:0010576 Intracranial cystic lesion
HP:0002188 Delayed CNS myelination
HP:0002847 Impaired memory B-cell generation
HP:0002183 Phonophobia
HP:0100422 Partial duplication of the proximal phalanx of the 3rd toe
HP:0008116 Flexion limitation of toes
HP:0000148 Vaginal atresia
HP:0007970 Congenital ptosis
HP:0100866 Short iliac bones
HP:0007587 Numerous pigmented freckles
HP:0000567 Chorioretinal coloboma
HP:0006659 Internally rotated shoulders
HP:0001095 Hypertensive retinopathy
HP:0008273 Transient aminoaciduria
HP:0000570 Abnormality of saccadic eye movements
HP:0005621 Trapezoidal shaped vertebral bodies
HP:0001900 Increased hemoglobin
HP:0001664 Torsade de pointes
HP:0008398 Hypoplastic fifth fingernail
HP:0011586 Thoracoabdominal ectopia cordis
HP:0000408 Progressive sensorineural hearing impairment
HP:0200136 Oral-pharyngeal dysphagia
HP:0010426 Complete duplication of the middle phalanx of the 2nd toe
HP:0006682 Ventricular extrasystoles
HP:0009224 Triangular epiphysis of the middle phalanx of the 4th finger
HP:0025028 Abnormality of enteric nervous system morphology
HP:0009255 Irregular epiphysis of the distal phalanx of the 4th finger
HP:0010288 Abnormality of the sublingual glands
HP:0009850 Triangular shaped middle phalanges of the hand
HP:0000069 Abnormality of the ureter
HP:0004866 Impaired ADP-induced platelet aggregation
HP:0012841 Retinal vascular tortuosity
HP:0004384 Type I truncus arteriosus
HP:0001126 Cryptophthalmos
HP:0010243 Abnormality of the epiphyses of the distal phalanx of finger
HP:0004622 Progressive intervertebral space narrowing
HP:0000584 Punctate corneal epithelial erosions
HP:0012701 Bowel urgency
HP:0100326 Immunologic hypersensitivity
HP:0010824 Abnormality of the fifth cranial nerve
HP:0003397 Generalized hypotonia due to defect at the neuromuscular junction
HP:0012848 Small intestinal stenosis
HP:0030474 Undetectable dark-adapted electroretinogram
HP:0001956 Truncal obesity
HP:0007485 Absence of subcutaneous fat
HP:0001474 Sclerotic scapulae
HP:0005229 Jejunoileal ulceration
HP:0010047 Short 5th metacarpal
HP:0000858 Menstrual irregularities
HP:3000045 Abnormality of genioglossus muscle
HP:0100149 Enlarged epiphysis of the middle phalanx of the 3rd toe
HP:0001528 Hemihypertrophy
HP:0012559 Increased T3/T4 ratio
HP:0007505 Progressive hyperpigmentation
HP:0012423 Colonic inertia
HP:0006943 Diffuse spongiform leukoencephalopathy
HP:0011551 Right sided atrium to left ventricle and absent left sided atrioventricular connection
HP:0002973 Abnormality of the forearm
HP:0011880 Acute disseminated intravascular coagulation
HP:0100394 Short middle phalanx of the 5th toe
HP:0010518 Thyroglossal cyst
HP:0030823 Scleral thickening
HP:0003131 Cystinuria
HP:0010949 Abnormality of umbilical vein blood flow
HP:0030285 Splayed superior cerebellar peduncle
HP:0011807 Type 1 muscle fiber atrophy
HP:0010020 Irregular epiphysis of the 1st metacarpal
HP:0002695 Symmetrical, oval parietal bone defects
HP:3000007 Abnormality of mentalis muscle
HP:0001256 Intellectual disability, mild
HP:0006179 Pseudoepiphyses of second metacarpal
HP:0009119 Aplasia/Hypoplasia of the frontal sinuses
HP:0030483 Reduced amplitude of dark-adapted bright flash electroretinogram a-wave
HP:0004618 Sandwich appearance of vertebral bodies
HP:0008030 Retinal arteritis
HP:0006503 Aplasia/hypoplasia involving forearm bones
HP:0040154 Acne inversa
HP:0012804 Corneal ulceration
HP:0100754 Mania
HP:0004822 Atypical elliptocytosis
HP:0000970 Anhidrosis
HP:0008002 Abnormality of macular pigmentation
HP:0011631 Complete right sided absence of pericardium
HP:0011277 Abnormality of the urinary system physiology
HP:0003852 Normal density transverse bands in metaphyses of the upper limbs
HP:0030866 Large knee
HP:0006190 Radially deviated wrists
HP:0002033 Poor suck
HP:0003546 Exercise intolerance
HP:0004370 Abnormality of temperature regulation
HP:0005160 Total anomalous pulmonary venous return
HP:0030318 Angular cheilitis
HP:0012557 EEG with centrotemporal focal spike waves
HP:0006347 Microdontia of primary teeth
HP:0008216 Adrenal gland dysgenesis
HP:0004227 Short distal phalanx of the 5th finger
HP:0010958 Bilateral renal agenesis
HP:0006829 Severe muscular hypotonia
HP:0012120 Methylmalonic aciduria
HP:0009902 Cleft helix
HP:0002676 Cloverleaf skull
HP:0001750 Single ventricle
HP:0004255 Small trapezium
HP:0100350 Contracture of the proximal interphalangeal joint of the 4th toe
HP:0009845 Bullet-shaped middle phalanges of the hand
HP:0000757 Lack of insight
HP:0012271 Episodic upper airway obstruction
HP:0030147 Truncal titubation
HP:0004601 Spina bifida occulta at L5
HP:0004485 Cessation of head growth
HP:0009459 Short proximal phalanx of the 3rd finger
HP:0007149 Distal upper limb amyotrophy
HP:0012866 Sperm neck anomaly
HP:0009538 Contracture of the distal interphalangeal joint of the 2nd finger
HP:0030215 Inappropriate crying
HP:0011312 Fused nails
HP:0002154 Hyperglycinemia
HP:0005232 Pancreatic dysplasia
HP:0012727 Thoracic aortic aneurysm
HP:0012297 Slender proximal phalanx of finger
HP:0007827 Nodular corneal dystrophy
HP:0000544 External ophthalmoplegia
HP:0005280 Depressed nasal bridge
HP:0005300 Nodular inflammatory vasculitis
HP:0100531 Wind-swept deformity of the knees
HP:0030877 Obstructive deficit on pulmonary function testing
HP:0009353 Pseudoepiphysis of the proximal phalanx of the 3rd finger
HP:0009837 Bullet-shaped distal phalanges of the hand
HP:0003112 Abnormality of serum amino acid levels
HP:0000796 Urethral obstruction
HP:0011427 Enlarged fetal cisterna magna
HP:0000963 Thin skin
HP:0011040 Abnormality of the intrahepatic bile duct
HP:0001199 Triphalangeal thumb
HP:0012365 Hypophosphaturia
HP:0001833 Long foot
HP:0011411 Forceps delivery
HP:0006387 Wide distal femoral metaphysis
HP:0000735 Impaired social interactions
HP:0030679 Ash-leaf spot
HP:0040176 Abnormal level of phospholipids
HP:0040035 Abnormality of the fourth metatarsal bone
HP:0010234 Ivory epiphyses of the phalanges of the hand
HP:0025176 Intralobular interstitial thickening
HP:0009736 Tibial pseudoarthrosis
HP:0012320 Absent pigmentation of the limbs
HP:0010602 Type 2 muscle fiber predominance
HP:0040173 Abnormality of the tongue muscle
HP:0008848 Moderately short stature
HP:0012333 Abnormal sudomotor regulation
HP:0005009 Dumbbell-shaped humerus
HP:0045081 Abnormality of body mass index
HP:0009795 Branchial fistula
HP:0000961 Cyanosis
HP:0007572 Hyperpigmented streaks
HP:0009563 Distal/middle symphalangism of 2nd finger
HP:0003482 EMG: axonal abnormality
HP:0001626 Abnormality of the cardiovascular system
HP:0009240 Broad distal phalanx of the 5th finger
HP:0006977 Grammar-specific speech disorder
HP:0011310 Bridged palmar crease
HP:0011603 Congenital malformation of the great arteries
HP:0003905 Abnormality of the humeral epiphyseal plate
HP:0100505 Vitamin B5 deficiency
HP:0005984 Elevated maternal serum alpha-fetoprotein
HP:0010818 Generalized tonic seizures
HP:0004302 Functional motor problems
HP:0012012 EEG with parietal focal spike waves
HP:0008767 Self-mutilation of tongue and lips due to involuntary movements
HP:0012524 Abnormal platelet shape
HP:0005285 Absent nasal bridge
HP:0007586 Telangiectases producing 'marbled' skin
HP:0009791 Bifid sacrum
HP:0001014 Angiokeratoma
HP:0012809 Narrow nasal base
HP:0007646 Absent lower eyelashes
HP:0100116 Irregular epiphysis of the middle phalanx of the 2nd toe
HP:0011023 Abnormality of prostaglandin metabolism
HP:0100553 Hemihypertrophy of lower limb
HP:0012414 Duodenal atrophy
HP:0011642 Abnormality of the coronary sinus
HP:0010453 Pelvic bone asymmetry
HP:0003783 Externally rotated/abducted legs
HP:0005759 Small flat posterior fossa
HP:0001491 Congenital fibrosis of extraocular muscles
HP:0008425 Cuboid-shaped thoracolumbar vertebral bodies
HP:0009154 Triangular epiphysis of the proximal phalanx of the 5th finger
HP:0010343 Aplasia/Hypoplasia of the 5th toe
HP:0002848 Specific anti-polysaccharide antibody deficiency
HP:0002871 Central apnea
HP:0030493 Abnormality of foveal pigmentation
HP:0009530 Ivory epiphysis of the proximal phalanx of the 2nd finger
HP:0011641 Coronary artery fistula
HP:0011505 Cystoid macular edema
HP:0100472 Symphalangism affecting the middle phalanx of the 5th toe
HP:3000017 Abnormality of temporalis muscle
HP:0004997 Multicentric ossification of proximal humeral epiphyses
HP:0001597 Abnormality of the nail
HP:0007427 Reticulated skin pigmentation
HP:0030686 Increased adiponectin level
HP:0009635 Synostosis of thumb phalanx
HP:0007067 Distal peripheral sensory neuropathy
HP:0006508 Abnormality of tibial epiphyses
HP:0100329 Tarsometatarsal synostosis
HP:0100582 Nasal polyposis
HP:0100645 Cystocele
HP:0100144 Stippling of the epiphysis of the distal phalanx of the 3rd toe
HP:0006970 Periventricular leukomalacia
HP:0030320 Increased intervertebral space
HP:0010719 Abnormality of hair texture
HP:0000206 Glossitis
HP:0009751 Aplasia of the pectoralis major muscle
HP:0004315 IgG deficiency
HP:0007450 Increased groin pigmentation with raindrop depigmentation
HP:0009118 Aplasia/Hypoplasia of the mandible
HP:0008416 Six lumbar vertebrae
HP:0010340 Polydactyly affecting the 4th toe
HP:0012023 Galactosuria
HP:0007406 Hyperpigmentation of eyelids
HP:0030927 1-minute APGAR score of 0
HP:0004881 Episodic hypoventilation
HP:0010590 Abnormality of the distal femoral epiphysis
HP:0006243 Phalangeal dislocation
HP:0100657 Thoracoabdominal eventration
HP:0004250 Proximally placed lunate
HP:0003204 Intracellular accumulation of autofluorescent lipopigment storage material
HP:0007096 Hypoplasia of the optic tract
HP:0004414 Abnormality of the pulmonary artery
HP:0001405 Periportal fibrosis
HP:0007108 Demyelinating peripheral neuropathy
HP:0012092 Abnormality of exocrine pancreas physiology
HP:0030031 Small toe
HP:0030376 Abnormal immature B cell count
HP:0008447 Hypoplastic coccygeal vertebrae
HP:0007648 Punctate cataract
HP:0025029 Abnormality of enteric neuron morphology
HP:0009198 Abnormality of the epiphysis of the distal phalanx of the 5th finger
HP:0009957 Complete duplication of the phalanges of the 2nd finger
HP:0000050 Hypoplastic male external genitalia
HP:0100045 Bracket epiphyses of the 2nd toe
HP:0011619 Pulmonary situs ambiguus with bilateral morphologic left lungs
HP:0040209 Decreased CSF biopterin level
HP:0002684 Thickened calvaria
HP:0200146 Cystic medial necrosis of the aorta
HP:0012677 Iron accumulation in globus pallidus
HP:0011126 Nephroptosis
HP:0010682 Elevated placental alkaline phosphatase
HP:0012457 Medial calcification of medium-sized arteries
HP:0010845 EEG with generalized slow activity
HP:0000864 Abnormality of the hypothalamus-pituitary axis
HP:0030532 Visual acuity test abnormality
HP:0008200 Primary hyperparathyroidism
HP:0030683 Vaginitis
HP:0010004 Partial duplication of the distal phalanges of the hand
HP:0005833 Joint swelling onset late infancy
HP:0030045 Serpentine fibula
HP:0003688 Decreased activity of cytochrome C oxidase in muscle tissue
HP:0040197 Encephalomalacia
HP:0000297 Facial hypotonia
HP:0100910 Sclerosis of the proximal phalanx of the 4th finger
HP:0001633 Abnormality of the mitral valve
HP:0007182 Peripheral hypomyelination
HP:0012397 Aortic atherosclerosis
HP:0100581 Dilatation of renal calices
HP:0010790 Hyoplasia of the Leydig cells
HP:0011251 Underdeveloped antitragus
HP:0006531 Pleural lymphangiectasia
HP:0007447 Diffuse palmoplantar hyperkeratosis
HP:0003950 Flared elbow metaphyses
HP:0003736 Autophagic vacuoles
HP:0012639 Abnormality of nervous system morphology
HP:0100316 Hirano bodies
HP:0000402 Stenosis of the external auditory canal
HP:0012513 Upper limb pain
HP:0010950 Abnormality of the fourth ventricle
HP:0000196 Lower lip pit
HP:0011147 Typical absence seizures
HP:0004246 Delayed ossification of the scaphoid
HP:0011937 Hypoplastic fifth toenail
HP:0006226 Osteoarthritis of the first carpometacarpal joint
HP:0100047 Enlarged epiphyses of the 2nd toe
HP:0100709 Reduction of oligodendroglia
HP:0010815 Nevus sebaceous
HP:0000510 Rod-cone dystrophy
HP:0011851 Hemopericardium
HP:0012409 Cortical nephrocalcinosis
HP:0007438 Mottled pigmentation of the trunk and proximal extremities
HP:0007948 Dense posterior cortical cataract
HP:0002974 Radioulnar synostosis
HP:0025085 Bloody diarrhea
HP:0001223 Pointed proximal second through fifth metacarpals
HP:0006216 Single interphalangeal crease of fifth finger
HP:0030775 Modic type vertebral endplate changes
HP:0001824 Weight loss
HP:0006543 Cardiorespiratory arrest
HP:0009401 Small epiphyses of the 4th finger
HP:0012203 Onychomycosis
HP:0025042 Abnormality of mesenteric lymph nodes
HP:0025147 Beaten bronze macular sheen
HP:0010548 Percussion myotonia
HP:0009434 Patchy sclerosis of the middle phalanx of the 3rd finger
HP:0000709 Psychosis
HP:0025109 Reduced red cell pyruvate kinase activity
HP:0030758 Periapical tooth abscess
HP:0001345 Psychotic mentation
HP:0005180 Tricuspid regurgitation
HP:0002983 Micromelia
HP:0011384 Abnormality of the internal auditory canal
HP:0005174 Membranous subvalvular aortic stenosis
HP:0100845 Anaphylactic shock
HP:0025052 Abnormal brain N-acetyl aspartate level by MRS
HP:0001339 Lissencephaly
HP:0011176 EEG with constitutional variants
HP:0003378 Axonal degeneration/regeneration
HP:0004909 Hypokalemic hypochloremic metabolic alkalosis
HP:0012613 Increased urinary sulfate
HP:0002573 Hematochezia
HP:0003063 Abnormality of the humerus
HP:0011954 Nodular regenerative hyperplasia of liver
HP:0100391 Short distal phalanx of the 5th toe
HP:0030690 Gingival cleft
HP:0001331 Absent septum pellucidum
HP:0100513 Vitamin E deficiency
HP:0002406 Limb dysmetria
HP:0005583 Tubular basement membrane disintegration
HP:0001385 Hip dysplasia
HP:0011265 Cleft earlobe
HP:0010473 Porphyrinuria
HP:0100911 Sclerosis of the proximal phalanx of the 5th finger
HP:0030787 Cerumen abnormality
HP:0007876 Juvenile cortical cataract
HP:0006155 Long phalanx of finger
HP:0008114 Metatarsal diaphyseal endosteal sclerosis
HP:0002464 Spastic dysarthria
HP:0006408 Distal tapering femur
HP:0011396 Abnormality of the cochlear nerve
HP:0030209 Calcium channel antibody positivity
HP:0012011 EEG with occipital focal spike waves
HP:0003749 Pelvic girdle muscle weakness
HP:0003028 Abnormality of the ankles
HP:0000255 Acute sinusitis
HP:0011455 Absent malleus
HP:0003778 Short mandibular rami
HP:0000475 Broad neck
HP:0100820 Glomerulopathy
HP:0011096 Peripheral demyelination
HP:0011473 Villous atrophy
HP:0012179 Craniofacial dystonia
HP:0000300 Oval face
HP:0012875 Abnormal ejaculation
HP:0011730 Abnormality of central sensory function
HP:0002718 Recurrent bacterial infections
HP:0030195 Fatigable weakness of swallowing muscles
HP:0030706 Ranula
HP:0004558 Cervical platyspondyly
HP:0100506 Vitamin B8 deficiency
HP:0003305 Block vertebrae
HP:0008283 Fasting hyperinsulinemia
HP:0100129 Pseudoepiphysis of the proximal phalanx of the 2nd toe
HP:0002339 Abnormality of the caudate nucleus
HP:0030519 Congruous heteronymous hemianopia
HP:0003782 Eunuchoid habitus
HP:0008807 Acetabular dysplasia
HP:0001009 Telangiectasia
HP:0004374 Hemiplegia/hemiparesis
HP:0012784 Perinephritis
HP:0012898 Abnormal lower-limb motor evoked potentials
HP:0004363 Abnormality of calcium homeostasis
HP:0000822 Hypertension
HP:0000953 Hyperpigmentation of the skin
HP:0002111 Restrictive deficit on pulmonary function testing
HP:0010381 Abnormality of the middle phalanx of the 4th toe
HP:0003072 Hypercalcemia
HP:0011252 Cryptotia
HP:0100519 Anuria
HP:0001738 Exocrine pancreatic insufficiency
HP:0004809 Neonatal alloimmune thrombocytopenia
HP:0100563 Diastomatomyelia
HP:0001151 Impaired horizontal smooth pursuit
HP:0010017 Cone-shaped epiphysis of the 1st metacarpal
HP:0003810 Late-onset distal muscle weakness
HP:0003904 Wide epiphyses of the upper limbs
HP:0004912 Hypophosphatemic rickets
HP:0030097 Absent muscle dystrophin expression
HP:0000978 Bruising susceptibility
HP:0011545 Abnormal connection of the cardiac segments
HP:0001660 Truncus arteriosus
HP:0007335 Recurrent encephalopathy
HP:0001816 Thin nail
HP:0004298 Abnormality of the abdominal wall
HP:0006263 Abnormality of the epiphyses of the 2nd finger
HP:0008771 Aplasia/Hypoplasia of the ear
HP:0009914 Cyclopia
HP:0010292 Absent uvula
HP:0008150 Elevated serum transaminases during infections
HP:0005150 Abnormal atrioventricular conduction
HP:0011684 Non-restrictive ventricular septal defect
HP:0001471 Aplasia/Hypoplasia of the musculature of the pelvis
HP:0011319 Bilambdoid synostosis
HP:0011834 Moyamoya phenomenon
HP:0100776 Recurrent pharyngitis
HP:0005379 Severe T lymphocytopenia
HP:0001947 Renal tubular acidosis
HP:0010103 Short distal phalanx of hallux
HP:0006665 Coat hanger sign of ribs
HP:0030570 Pinhole visual acuity 0.2 LogMAR
HP:0002999 Patellar dislocation
HP:0012039 Descemet Membrane Folds
HP:0004608 Anteriorly placed odontoid process
HP:0005607 Abnormality of the tracheobronchial system
HP:0009228 Bullet-shaped proximal phalanx of the 5th finger
HP:0005168 Elevated right atrial pressure
HP:0009389 Pseudoepiphyses of the 5th finger
HP:0006170 Chess-pawn distal phalanges
HP:0004280 Irregular ossification of hand bones
HP:0011236 Angulated antihelix
HP:0005028 Widened proximal tibial metaphyses
HP:0011021 Abnormality of circulating enzyme level
HP:0045029 Eosinophilic fasciitis
HP:0005096 Distal femoral bowing
HP:0100214 Bracket epiphysis of the middle phalanx of the 5th toe
HP:0012196 Cheyne-Stokes respiration
HP:0030747 Preterm intraventricular hemorrhage
HP:0030193 Fatigable weakness of chewing muscles
HP:3000003 Abnormality of mandibular ramus
HP:0002435 Meningocele
HP:0012069 Keratan sulfate excretion in urine
HP:0100818 Long thorax
HP:0030806 Fast-growing nails
HP:0009455 Symphalangism affecting the proximal phalanx of the 3rd finger
HP:0008651 Uric acid urolithiasis independent of gout
HP:0012706 Elevated brain choline level by MRS
HP:0002239 Gastrointestinal hemorrhage
HP:0008074 Metatarsal periosteal thickening
HP:0004819 Normocytic hypoplastic anemia
HP:0010493 Long metacarpals
HP:0011893 Abnormal leukocyte count
HP:0005994 Nodular goiter
HP:0002533 Abnormal posturing
HP:0009371 Type A1 brachydactyly
HP:0009808 Anomaly of the upper limb diaphyses
HP:0009298 Aplasia of the proximal phalanx of the 4th finger
HP:0011133 Increased sensitivity to ionizing radiation
HP:0040062 Slender radius
HP:0009657 Triangular shaped thumb phalanx
HP:0001034 Hypermelanotic macule
HP:0010269 Bracket epiphyses of the proximal phalanges of the hand
HP:0001876 Pancytopenia
HP:0025320 Leakage of dye on fundus fluorescein angiography
HP:0008452 Wafer-thin platyspondyly
HP:0004214 Curved phalanges of the 5th finger
HP:0200109 Absent/shortened outer dynein arms
HP:0009569 Broad middle phalanx of the 2nd finger
HP:0001783 Broad metatarsal
HP:0012805 Iris transillumination defect
HP:0012242 Superior rectus atrophy
HP:0009943 Complete duplication of thumb phalanx
HP:0100475 Symphalangism affecting the proximal phalanx of the 5th toe
HP:0030841 Toe pain
HP:0100060 Irregular epiphyses of the 3rd toe
HP:0001387 Joint stiffness
HP:0000350 Small forehead
HP:0100659 Abnormality of the cerebral vasculature
HP:0002332 Lack of peer relationships
HP:0009218 Fragmentation of the epiphysis of the middle phalanx of the 4th finger
HP:0100734 Abnormality of vertebral epiphysis morphology
HP:0000496 Abnormality of eye movement
HP:0005292 Intimal thickening in the coronary arteries
HP:0010173 Aplasia/Hypoplasia of the phalanges of the toes
HP:0012854 Midshaft hypospadias
HP:0008496 Multiple rows of eyelashes
HP:0004382 Mitral valve calcification
HP:0000551 Abnormality of color vision
HP:0010722 Asymmetry of the ears
HP:0009742 Stiff shoulders
HP:0100644 Melanonychia
HP:0009393 Absent epiphyses of the 4th finger
HP:0005422 Absence of CD8+ T cells
HP:0001252 Muscular hypotonia
HP:0003920 Sloping humeral metaphysis
HP:0009153 Abnormality of the epiphysis of the proximal phalanx of the 5th finger
HP:0005322 Prominent nasal septum
HP:0009213 Triangular epiphysis of the middle phalanx of the 5th finger
HP:0030000 EMG: repetitive nerve stimulation abnormality
HP:0100436 Bullet-shaped middle phalanx of the 5th toe
HP:0008185 Precocious puberty in males
HP:0005679 Dupuytren contracture
HP:0100923 Clavicular sclerosis
HP:0030798 Abnormality of the bed nucleus of stria terminalis
HP:0008450 Narrow vertebral interpedicular distance
HP:0011483 Anterior synechiae of the anterior chamber
HP:0010486 Abnormality of the hypothenar eminence
HP:0005830 Flexion contracture of toe
HP:0045060 Aplasia/hypoplasia involving bones of the extremities
HP:0000144 Decreased fertility
HP:0040109 Morphological abnormality of the utricle
HP:0012000 EEG with generalized spikes
HP:0030555 Best corrected visual acuity 0.2 LogMAR
HP:0001409 Portal hypertension
HP:0008134 Irregular tarsal ossification
HP:0010994 Abnormality of the striatum
HP:0010078 Bullet-shaped distal phalanx of the hallux
HP:0009757 Intercrural pterygium
HP:0030275 Ectopic scrotum
HP:0040257 Abnormal size of nasopharyngeal adenoids
HP:0006576 Hepatic vascular malformations
HP:0005278 Hypoplastic nasal tip
HP:0000138 Ovarian cyst
HP:0010033 Triangular shaped 1st metacarpal
HP:0001098 Abnormality of the fundus
HP:0011629 Total absence of the pericardium
HP:0003201 Rhabdomyolysis
HP:0000194 Open mouth
HP:0002905 Hyperphosphatemia
HP:0006089 Palmar hyperhidrosis
HP:0100093 Abnormality of the epiphysis of the proximal phalanx of the 3rd toe
HP:0030200 Fatiguable weakness of proximal limb muscles
HP:0001747 Accessory spleen
HP:0040161 Localized osteoporosis
HP:0001285 Spastic tetraparesis
HP:0009622 Distally placed thumb
HP:0011055 Agenesis of permanent molar
HP:0025325 Sparse medial eyebrow
HP:0005510 Transient erythroblastopenia
HP:0006927 Unilateral polymicrogyria
HP:0006252 Interphalangeal joint erosions
HP:0030105 Abnormal muscle fiber delta sarcoglycan
HP:0005106 Abnormality of the vertebral endplates
HP:0100812 Halitosis
HP:0011830 Abnormality of oral mucosa
HP:0007414 Neonatal wrinkled skin of hands and feet
HP:0100468 Patchy sclerosis of the distal phalanx of the 4th toe
HP:0000559 Corneal scarring
HP:0004859 Amegakaryocytic thrombocytopenia
HP:0010191 Symphalangism affecting the distal phalanges of the toes
HP:0002829 Arthralgia
HP:0030402 Abnormal platelet aggregation
HP:0001052 Nevus flammeus
HP:0001030 Fragile skin
HP:0008445 Cervical spinal canal stenosis
HP:0008037 Absent anterior eye chamber
HP:0004826 Folate-unresponsive megaloblastic anemia
HP:0009777 Absent thumb
HP:0100880 Nephrogenic rest
HP:0011564 Mitral valve arcade
HP:3000053 Abnormality of hypopharynx
HP:0011182 Epileptiform EEG discharges
HP:0003697 Scapuloperoneal amyotrophy
HP:0100346 Fibular deviation of the 5th toe
HP:0006362 Varus deformity of humeral neck
HP:0012860 Testicular fibrosis
HP:0006895 Lower limb hypertonia
HP:0000253 Progressive microcephaly
HP:0003306 Spinal rigidity
HP:0000453 Choanal atresia
HP:0006165 Proportionate shortening of all digits
HP:0009996 Partial duplication of the proximal phalanx of the 5th finger
HP:0010781 Skin dimples
HP:0010307 Stridor
HP:0005157 Concentric hypertrophic cardiomyopathy
HP:0001595 Abnormality of the hair
HP:0009844 Broad middle phalanx of finger
HP:0009897 Horizontal crus of helix
HP:0002747 Respiratory insufficiency due to muscle weakness
HP:0008451 Posterior vertebral hypoplasia
HP:0003212 Increased IgE level
HP:0012779 Transient hearing impairment
HP:0001404 Hepatocellular necrosis
HP:0011917 Short 5th toe
HP:0003302 Spondylolisthesis
HP:0100933 Sclerosis of the proximal phalanx of the 4th toe
HP:0005929 Synostosis involving the tibia
HP:0010624 Aplastic/hypoplastic toenail
HP:0040245 Reduced alpha-2-antiplasmin activity
HP:0002191 Progressive spasticity
HP:0011103 Abnormality of the left ventricular outflow tract
HP:0000773 Short ribs
HP:0010654 Aplasia of the falx cerebri
HP:0005977 Hypochloremic metabolic alkalosis
HP:0008715 Testicular dysgenesis
HP:0005069 Rhizo-meso-acromelic limb shortening
HP:0009246 Aplasia of the distal phalanx of the 5th finger
HP:0005586 Hyperpigmentation in sun-exposed areas
HP:0000360 Tinnitus
HP:0008314 Decreased activity of mitochondrial complex II
HP:0009700 Finger symphalangism
HP:0000013 Hypoplasia of the uterus
HP:0005145 Coronary artery stenosis
HP:0002213 Fine hair
HP:0011800 Midface retrusion
HP:0011131 Perianal rash
HP:0003427 Thenar muscle weakness
HP:0012250 ST segment depression
HP:0030932 1-minute APGAR score of 5
HP:0001222 Spatulate thumbs
HP:0030009 Cervical insufficiency
HP:0010702 Increased antibody level in blood
HP:0004290 Sclerosis of hand bones with transverse striations
HP:0010506 Abnormal plantar dermatoglyphics
HP:0005036 Unilateral ulnar hypoplasia
HP:0006334 Hypoplasia of the primary teeth
HP:0006524 Tracheobronchial leiomyomatosis
HP:0004259 Abnormality of the hamate bone
HP:0000670 Carious teeth
HP:0010422 Complete duplication of the proximal phalanx of the 2nd toe
HP:0100750 Atelectasis
HP:0410016 Abnormality of cranial ganglion
HP:0003607 4-Hydroxyphenylacetic aciduria
HP:0011647 Postductal coarctation of the aorta
HP:0009529 Irregular epiphysis of the proximal phalanx of the 2nd finger
HP:0025327 Decreased renal parenchymal thickness
HP:0040267 Distal upper limb muscle hypertrophy
HP:0030771 Mallet finger
HP:0004418 Thrombophlebitis
HP:0003923 Square humeral metaphysis
HP:0030019 Increased female libido
HP:0010948 Abnormality of the fetal cardiovascular system
HP:0000615 Abnormality of the pupil
HP:0010564 Bifid epiglottis
HP:0011852 Chylopericardium
HP:0001163 Abnormality of the metacarpal bones
HP:0005402 Primary T-lymphocyte immune abnormalities
HP:0009584 Osteolytic defects of the proximal phalanx of the 2nd finger
HP:0001869 Deep plantar creases
HP:0004233 Advanced ossification of carpal bones
HP:0009171 Triangular epiphyses of the metacarpals
HP:0030590 Abnormal Amsler grid test
HP:0002866 Hypoplastic iliac wing
HP:0011891 Post-partum hemorrhage
HP:0000873 Diabetes insipidus
HP:0030257 Freckled genitalia
HP:0001062 Atypical nevus
HP:0100173 Fragmentation of the epiphysis of the distal phalanx of the 4th toe
HP:0012420 Meconium stained amniotic fluid
HP:0030764 Ochronosis
HP:0012430 Cerebral white matter hypoplasia
HP:0410003 Cleft primary palate
HP:0009145 Abnormality of cerebral artery
HP:0010662 Abnormality of the diencephalon
HP:0010070 Curved 1st metatarsal
HP:0010854 EEG with generalized low amplitude activity
HP:0002825 Caudal appendage
HP:0001032 Absent distal interphalangeal creases
HP:0004937 Pulmonary artery aneurysm
HP:0000130 Abnormality of the uterus
HP:0003396 Syringomyelia
HP:0009355 Stippling of the epiphysis of the proximal phalanx of the 3rd finger
HP:0002352 Leukoencephalopathy
HP:0008039 Subepithelial corneal opacities
HP:0001457 Abnormality of the musculature of the upper arm
HP:0009849 Symphalangism of middle phalanx of finger
HP:0008945 Loss of ability to walk in early childhood
HP:0100280 Crohn's disease
HP:0007199 Progressive spastic paraparesis
HP:0010406 Bullet-shaped middle phalanx of the 2nd toe
HP:0003949 Abnormality of the elbow metaphyses
HP:0009130 Hand muscle atrophy
HP:0009617 Abnormality of the distal phalanx of the thumb
HP:0010942 Echogenic intracardiac focus
HP:0001112 Leber optic atrophy
HP:0100160 Enlarged epiphysis of the proximal phalanx of the 3rd toe
HP:0000833 Glucose intolerance
HP:0001530 Mild postnatal growth retardation
HP:0000964 Eczema
HP:0005986 Limitation of neck motion
HP:0007381 Congenital exfoliative erythroderma
HP:0001788 Premature rupture of membranes
HP:0009928 Thick nasal alae
HP:0025313 Exophoria
HP:0007922 Hypermyelinated retinal nerve fibers
HP:0010168 Ivory epiphyses of the toes
HP:0003236 Elevated serum creatine phosphokinase
HP:0009541 Abnormality of the phalanges of the 2nd finger
HP:0002180 Neurodegeneration
HP:0001239 Wrist flexion contracture
HP:0008041 Late onset congenital glaucoma
HP:0006660 Aplastic clavicles
HP:0011235 Additional crus of antihelix
HP:0100769 Synovitis
HP:0012783 Intralobar nephrogenic rest
HP:0012535 Abnormal synaptic transmission
HP:0010370 Abnormality of the proximal phalanx of the 3rd toe
HP:0001321 Cerebellar hypoplasia
HP:0005939 Multiple bilateral pneumothoraces
HP:0100744 Abnormality of the humeroradial joint
HP:0010649 Flat nasal alae
HP:0005093 Absent proximal radial epiphyses
HP:0040181 Chapped lip
HP:0200006 Slanting of the palpebral fissure
HP:0030914 Abnormal peristalsis
HP:0100721 Mediastinal lymphadenopathy
HP:0012281 Chylous ascites
HP:0200148 Abnormal liver function tests during pregnancy
HP:0010666 Hypoplasia of the anterior nasal spine
HP:0005207 Gastric hypertrophy
HP:0011050 Agenesis of permanent maxillary lateral incisor
HP:0011458 Abdominal symptom
HP:0002365 Hypoplasia of the brainstem
HP:0012533 Allodynia
HP:0001598 Concave nail
HP:0008322 Abnormal mitochondrial morphology
HP:0030352 Abnormal serum insulin-like growth factor 1 level
HP:0030465 Undetectable light-adapted electroretinogram
HP:0040017 Protruding coccyx
HP:0002416 Subependymal cysts
HP:0012482 Frontal venous angioma
HP:0100414 Complete duplication of the proximal phalanx of the 4th toe
HP:0006657 Hypoplasia of first ribs
HP:0003981 Broad radius
HP:0004272 Cortical thinning of hand bones
HP:0100801 Pancreatic aplasia
HP:0030750 Grade III preterm intraventricular hemorrhage
HP:0002791 Hypoventilation
HP:0005612 Arthrogryposis-like hand anomaly
HP:0100869 Palmar telangiectasia
HP:0002109 Abnormality of the bronchi
HP:0030120 Absent muscle fiber calpain-3
HP:0005745 Congenital foot contractures
HP:0005085 Limited knee flexion/extension
HP:0100147 Bracket epiphysis of the middle phalanx of the 3rd toe
HP:0100240 Synostosis of joints
HP:0012630 Abnormality of the trabecular meshwork
HP:0012556 Hyperbetaalaninemia
HP:0006638 Midclavicular aplasia
HP:0100364 Aplasia of the phalanges of the 5th toe
HP:0009329 Small epiphysis of the middle phalanx of the 3rd finger
HP:0004487 Acrobrachycephaly
HP:0009458 Aplasia of the proximal phalanx of the 3rd finger
HP:0000105 Enlarged kidney
HP:0009660 Short phalanx of the thumb
HP:0001263 Global developmental delay
HP:0011909 Flattened metacarpal heads
HP:0030130 Impaired von Willibrand factor collagen binding activity
HP:0007097 Cranial nerve motor loss
HP:0004472 Mandibular hyperostosis
HP:0025159 Hypoautofluorescent retinal lesion
HP:0100135 Absent epiphysis of the distal phalanx of the 3rd toe
HP:0004880 Respiratory infections in early life
HP:0000325 Triangular face
HP:0012061 Urinary excretion of sialylated oligosaccharides
HP:0025235 Non-rapid eye movement parasomnia
HP:0025071 U wave inversion
HP:0007815 Abnormal distribution of retinal arterioles and venules
HP:0011829 Narrow philtrum
HP:3000070 Abnormality of levator anguli oris
HP:0010149 Absent epiphysis of the 1st metatarsal
HP:0030621 Foveal inner retinal layer loss on macular OCT
HP:0025165 Clumping of elastic fibers in the dermis
HP:0002360 Sleep disturbance
HP:0040014 Increased mitochondrial number
HP:0000025 Functional abnormality of male internal genitalia
HP:0011380 Morphological abnormality of the semicircular canal
HP:0007565 Multiple cafe-au-lait spots
HP:0011588 Cervical aortic arch
HP:0003774 Stage 5 chronic kidney disease
HP:0002946 Supernumerary vertebrae
HP:0012081 Enlarged cerebellum
HP:0003612 Positive ferric chloride test
HP:0030822 Hooded upper eyelid
HP:0007110 Central hypoventilation
HP:0002512 Brain stem compression
HP:0011729 Abnormality of joint mobility
HP:0012370 Prominence of the zygomatic bone
HP:0011892 Vitamin K deficiency
HP:0012771 Increased arm span
HP:0000634 Impaired ocular abduction
HP:0030754 Allantoic cyst
HP:0001923 Reticulocytosis
HP:0003487 Babinski sign
HP:0005357 Defective B cell differentiation
HP:0001807 Ridged nail
HP:0001983 Reduced lymphocyte surface expression of CD43
HP:0006849 Hypodysplasia of the corpus callosum
HP:0002509 Limb hypertonia
HP:0100328 Carpometacarpal synostosis
HP:0006293 Agenesis of maxillary central incisor
HP:0005681 Juvenile rheumatoid arthritis
HP:0012538 Gluten intolerance
HP:0008947 Infantile muscular hypotonia
HP:0006064 Limited interphalangeal movement
HP:0006145 Central Y-shaped metacarpal
HP:0009323 Cone-shaped epiphysis of the middle phalanx of the 3rd finger
HP:0100369 Aplasia/Hypoplasia of the distal phalanx of the 3rd toe
HP:0012087 Abnormal mitochondrial shape
HP:0009256 Ivory epiphysis of the distal phalanx of the 4th finger
HP:0001147 Retinal exudate
HP:0002045 Hypothermia
HP:0010644 Midnasal stenosis
HP:0008052 Retinal fold
HP:0008838 Stippled calcification proximal humeral epiphyses
HP:0010841 Multifocal epileptiform discharges
HP:0008115 Clinodactyly of the 3rd toe
HP:0009314 Symphalangism affecting the proximal phalanx of the 4th finger
HP:0100203 Bracket epiphysis of the distal phalanx of the 5th toe
HP:0012903 Myotonia of the upper limb
HP:0004629 Small cervical vertebral bodies
HP:0008489 Spondylolisthesis at L5-S1
HP:0011259 Expanded terminal portion of crus of helix
HP:0002343 Normal pressure hydrocephalus
HP:0003951 Distal humeral metaphyseal irregularity
HP:0011914 Thoracic hypertrichosis
HP:0009662 Abnormality of the epiphysis of the distal phalanx of the thumb
HP:0009084 Midline notch of upper alveolar ridge
HP:0025317 Cubitus varus
HP:0003865 Bowed humerus
HP:0011957 Abnormality of the pectoral muscle
HP:0010369 Abnormality of the middle phalanx of the 3rd toe
HP:0030840 Ankle pain
HP:0012037 Pectoralis amyotrophy
HP:0009077 Weakness of long finger extensor muscles
HP:0005381 Recurrent meningococcal disease
HP:0100800 Aplasia/Hypoplasia of the pancreas
HP:0001882 Leukopenia
HP:0011587 Abnormal branching pattern of the aortic arch
HP:0000347 Micrognathia
HP:0011070 Abnormality of molar morphology
HP:0012313 Heberden's node
HP:0011280 Abnormality of urine calcium concentration
HP:0200098 Absent skin pigmentation
HP:0000921 Missing ribs
HP:0200071 Peripheral vitreoretinal degeneration
HP:0010107 Short proximal phalanx of hallux
HP:0010177 Osteolytic defects of the phalanges of the toes
HP:0011985 Acholic stools
HP:0002075 Dysdiadochokinesis
HP:0006407 Irregular distal femoral epiphysis
HP:0100128 Ivory epiphysis of the proximal phalanx of the 2nd toe
HP:0001053 Hypopigmented skin patches
HP:0010360 Broad phalanges of the 3rd toe
HP:0006415 Cortically dense long tubular bones
HP:0025163 Abnormality of optic chiasm morphology
HP:0100185 Irregular epiphysis of the middle phalanx of the 4th toe
HP:0009548 Bullet-shaped phalanges of the 2nd finger
HP:0011012 Abnormality of polysaccharide metabolism
HP:0012095 Multiple joint dislocation
HP:0006391 Overtubulated long bones
HP:0002084 Encephalocele
HP:0012496 Reduced maximal inspiratory pressure
HP:0012427 Excessive femoral anteversion
HP:0007834 Progressive cataract
HP:0003462 Elevated 8-dehydrocholesterol
HP:0001704 Tricuspid valve prolapse
HP:0005086 Knee osteoarthritis
HP:0040101 Cutaneous atresia of the external auditory canal
HP:0009600 Flexion contracture of thumb
HP:0030397 Abnormal platelet dense granule secretion
HP:0007515 Hypoplastic pilosebaceous units
HP:0005973 Fructose intolerance
HP:0003333 Increased serum beta-hexosaminidase
HP:0012882 Hyperplastic labia majora
HP:0011107 Recurrent aphthous stomatitis
HP:0008676 Congenital megaureter
HP:0001059 Pterygium
HP:0010523 Alexia
HP:0025009 Forward slanting upper incisors
HP:0040103 Cutaneous stenosis of the external auditory canal
HP:0011734 Central adrenal insufficiency
HP:0003383 Onion bulb formation
HP:0009313 Patchy sclerosis of the proximal phalanx of the 4th finger
HP:0010231 Enlarged epiphyses of the phalanges of the hand
HP:0004591 Disc-like vertebral bodies
HP:0009121 Abnormal axial skeleton morphology
HP:0009972 Duplication of phalanx of 4th finger
HP:0010904 Abnormality of histidine metabolism
HP:0010436 Aplasia of the proximal phalanx of the 2nd toe
HP:0030379 Abnormal transitional B cell count
HP:0001290 Generalized hypotonia
HP:0009172 Abnormality of the phalanges of the 4th finger
HP:0000017 Nocturia
HP:0005598 Facial telangiectasia in butterfly midface distribution
HP:0010452 Ectopia of the spleen
HP:0009537 Flexion contracture of the 2nd finger
HP:0005253 Increased anterioposterior diameter of thorax
HP:0000041 Chordee
HP:0030327 Abnormal osteoclast count
HP:0030183 Impaired visually enhanced vestibulo-ocular reflex
HP:0008718 Unilateral renal dysplasia
HP:0008107 Plantar crease between first and second toes
HP:0040039 Onycholysis of fingernails
HP:0009087 Posteriorly placed tongue
HP:0010884 Acromelia
HP:0000444 Convex nasal ridge
HP:0012508 Metamorphopsia
HP:0030319 Weakness of facial musculature
HP:0009212 Stippling of the epiphysis of the middle phalanx of the 5th finger
HP:0002474 Expressive language delay
HP:0005920 Abnormality of the epiphyses of the phalanges of the hand
HP:0030164 Jaw claudication
HP:0004429 Recurrent viral infections
HP:0005386 Recurrent protozoan infections
HP:0008845 Mesomelic short stature
HP:0000205 Pursed lips
HP:0005017 Polyarticular chondrocalcinosis
HP:0200068 Nonprogressive visual loss
HP:0004416 Precocious atherosclerosis
HP:0006192 Tapered phalanx of finger
HP:0100682 Tracheal atresia
HP:0025258 Stiff neck
HP:0030728 Meromelia
HP:0007626 Mandibular osteomyelitis
HP:0025075 Increased QRS voltage
HP:0008653 Crescentic glomerulonephritis
HP:0003097 Short femur
HP:0003286 Cystathioninemia
HP:0008455 Dysplastic sacrum
HP:0008921 Neonatal short-limb short stature
HP:0000508 Ptosis
HP:0030307 Flared lower limb metaphysis
HP:0100702 Arachnoid cyst
HP:0010232 Fragmentation of the epiphyses of the phalanges of the hand
HP:0004291 Stippled calcification of hand bones
HP:0012867 Sperm mid-piece anomaly
HP:0001320 Cerebellar vermis hypoplasia
HP:0000484 Hyperopic astigmatism
HP:0010146 Small epiphysis of the distal phalanx of the hallux
HP:0025270 Abnormality of esophagus physiology
HP:0012018 EEG with temporal focal spikes
HP:0012460 Dysmorphic inferior cerebellar vermis
HP:0006713 Aplasia/Hypoplasia of the scapulae
HP:0003777 Pili torti
HP:0002286 Fair hair
HP:0010801 Underdeveloped nasolabial fold
HP:0009326 Irregular epiphysis of the middle phalanx of the 3rd finger
HP:0006698 Ventricular aneurysm
HP:0410004 Cleft secondary palate
HP:0001992 Organic aciduria
HP:0008768 Inappropriate sexual behavior
HP:0002356 Writer's cramp
HP:0004990 Epiphyseal streaking
HP:0011507 Macular flecks
HP:0010830 Impaired tactile sensation
HP:0012619 Multiple bladder diverticula
HP:0001483 Eye poking
HP:0100272 Branchial sinus
HP:0010367 Duplication of phalanx of the 3rd toe
HP:0011492 Abnormality of corneal stroma
HP:0100428 Broad proximal phalanx of the 3rd toe
HP:0011870 Impaired arachidonic acid-induced platelet aggregation
HP:0010417 Osteolytic defects of the distal phalanx of the 2nd toe
HP:0001645 Sudden cardiac death
HP:0100899 Sclerosis of finger phalanx
HP:0003869 Humeral cortical thinning
HP:0004617 Butterfly vertebral arch
HP:0009388 Ivory epiphyses of the 5th finger
HP:0100473 Symphalangism affecting the proximal phalanx of the 3rd toe
HP:0000024 Prostatitis
HP:0004839 Pyropoikilocytosis
HP:0007647 Congenital extraocular muscle anomaly
HP:0001392 Abnormality of the liver
HP:0000464 Abnormality of the neck
HP:0030191 Abnormal peripheral nervous system synaptic transmission
HP:0030331 Impaired stimulus-induced skin wrinkling
HP:0100514 Abnormality of vitamin E metabolism
HP:0000956 Acanthosis nigricans
HP:0007464 Sparse facial hair
HP:0002612 Congenital hepatic fibrosis
HP:0100177 Small epiphysis of the distal phalanx of the 4th toe
HP:0012671 Abulia
HP:0007181 Interosseus muscle atrophy
HP:0006926 Metachromatic leukodystrophy variant
HP:0006799 Basal ganglia cysts
HP:0002527 Falls
HP:0011219 Short face
HP:0003173 Hypoplastic pubic bone
HP:0005650 Cutaneous syndactyly between fingers 2 and 5
HP:0100454 Osteolytic defects of the middle phalanx of the 5th toe
HP:0012893 Neck muscle hypertrophy
HP:0002487 Hyperkinesis
HP:0007435 Diffuse palmoplantar keratoderma
HP:0100392 Short middle phalanx of the 3rd toe
HP:0006870 Lobar holoprosencephaly
HP:0000498 Blepharitis
HP:0030714 Subchorionic thrombohematoma
HP:0011634 Partial left sided absence of pericardium
HP:0012590 Abnormal urine output
HP:0045002 Absent ossification of the trapezium
HP:0002009 Potter facies
HP:0011160 Gustatory auras
HP:0007605 Excessive wrinkling of palmar skin
HP:0010739 Osteopoikilosis
HP:0100405 Duplication of the proximal phalanx of the 4th toe
HP:0006650 Thickening of the lateral border of the scapula
HP:0100935 Sclerosis of the middle phalanx of the 2nd toe
HP:0000940 Abnormal diaphysis morphology
HP:0006623 Costochondral joint sclerosis
HP:0040112 Abnormal number of tubercles
HP:0008250 Infantile hypercalcemia
HP:0005255 Absence of pectoralis minor muscle
HP:0002132 Porencephaly
HP:0010338 Deviation of the 4th toe
HP:0011926 Proximal placement of hallux
HP:0009316 Abnormality of the phalanges of the 3rd finger
HP:0001087 Congenital glaucoma
HP:0030138 Excessive bleeding from superficial cuts
HP:0009667 Enlarged epiphysis of the proximal phalanx of the thumb
HP:0000413 Atresia of the external auditory canal
HP:0005360 Susceptibility to chickenpox
HP:0012657 Abnormal brain positron emission tomography
HP:0002821 Neuropathic arthropathy
HP:0001787 Abnormal delivery
HP:0000695 Natal tooth
HP:0006040 Long second metacarpal
HP:0004976 Knee dislocation
HP:0006704 Abnormality of the coronary arteries
HP:0007141 Sensorimotor neuropathy
HP:0011984 Atretic gallbladder
HP:0003798 Nemaline bodies
HP:0007383 Congenital localized absence of skin
HP:0007880 Marginal corneal dystrophy
HP:0000262 Turricephaly
HP:0030677 Mozart ear
HP:0006548 Pulmonary arteriovenous malformation
HP:0000125 Pelvic kidney
HP:0030252 Absence of mature B cells
HP:0002805 Accelerated bone age after puberty
HP:0003259 Elevated serum creatinine
HP:0009893 Telangiectasia of the ear
HP:0011858 Reduced factor IX activity
HP:0004321 Bladder fistula
HP:0011842 Abnormality of skeletal morphology
HP:0010315 Aplasia/Hypoplasia of the diaphragm
HP:0010119 Ivory epiphyses of the hallux
HP:0100532 Scleritis
HP:0012532 Chronic pain
HP:0400004 Long ear
HP:0011200 EEG with generalized polymorphic epileptiform discharges
HP:0008229 Thyroid lymphangiectasia
HP:0004023 Sloping radial metaphysis
HP:0100336 Bilateral cleft lip
HP:0010415 Bullet-shaped distal phalanx of the 2nd toe
HP:0010056 Abnormality of the epiphyses of the hallux
HP:0003498 Disproportionate short stature
HP:0011054 Agenesis of molar
HP:0006575 Intrahepatic cholestasis with episodic jaundice
HP:0004527 Large clumps of pigment irregularly distributed along hair shaft
HP:0007665 Curly eyelashes
HP:0011338 Abnormality of mouth shape
HP:0025115 Civatte bodies
HP:0006361 Irregular femoral epiphysis
HP:0100320 Rosenthal fibres
HP:0000888 Horizontal ribs
HP:0002102 Pleuritis
HP:0003216 Generalized amyloid deposition
HP:0002418 Abnormality of midbrain morphology
HP:0011670 Left superior vena cava draining to coronary sinus
HP:0030389 Abnormality of thromboxane metabolism
HP:0011924 Decreased activity of mitochondrial complex III
HP:0000037 Male pseudohermaphroditism
HP:0012140 Abnormality of cells of the lymphoid lineage
HP:0003526 Orotic acid crystalluria
HP:0030440 Anal margin neoplasm
HP:0006414 Distal tibial bowing
HP:0006461 Proximal femoral epiphysiolysis
HP:0010299 Abnormality of dentin
HP:0011077 Abnormality of molar
HP:0009503 Bracket epiphysis of the distal phalanx of the 2nd finger
HP:0012756 CSF polymorphonuclear pleocytosis
HP:3000039 Abnormality of dorsal nasal artery
HP:0000385 Small earlobe
HP:0011345 Moderate expressive language delay
HP:0011148 Absence seizures with special features
HP:0100614 Myositis
HP:0012136 Dysplastic granulopoesis
HP:0002266 Focal clonic seizures
HP:0030542 Unaided visual acuity 0.7 LogMAR
HP:0011035 Abnormality of the renal cortex
HP:0002716 Lymphadenopathy
HP:0009451 Bullet-shaped proximal phalanx of the 3rd finger
HP:0030573 Pinhole visual acuity 0.5 LogMAR
HP:0012251 ST segment elevation
HP:0002814 Abnormality of the lower limb
HP:3000041 Abnormality of external carotid artery
HP:0030282 Posterior rib gap
HP:0100166 Stippling of the epiphysis of the proximal phalanx of the 3rd toe
HP:0009547 Broad phalanges of the 2nd finger
HP:0009825 Aplasia involving bones of the extremities
HP:0003725 Firm muscles
HP:0006450 Multicentric ossification of proximal femoral epiphyses
HP:0001831 Short toe
HP:0011059 Localized periodontitis
HP:0012301 Type II transferrin isoform profile
HP:0030715 Bronchial atresia
HP:0025059 Splenic abscess
HP:0010204 Broad proximal phalanx of toe
HP:0005579 Impaired reabsorption of chloride
HP:0004012 Premature fusion of the radial epiphyseal plates
HP:0011279 Abnormality of urine bicarbonate concentration
HP:0100184 Fragmentation of the epiphysis of the middle phalanx of the 4th toe
HP:0010229 Bracket epiphyses of the phalanges of the hand
HP:0030548 Unaided visual acuity 1.3 LogMAR
HP:0009312 Osteolytic defects of the proximal phalanx of the 4th finger
HP:0012516 Tetralogy of Fallot with pulmonary atresia
HP:0012124 Intermediate uveitis
HP:0030470 Abnormal dark-adapted bright flash electroretinogram
HP:0001288 Gait disturbance
HP:0011108 Recurrent sinusitis
HP:0030783 Increased serum interleukin-6
HP:0011163 Somatosensory auras
HP:0011266 Microtia, first degree
HP:0010705 4-5 finger syndactyly
HP:0010447 Anal fistula
HP:0002003 Large forehead
HP:0004468 Anomalous tracheal cartilage
HP:0003474 Sensory impairment
HP:0010535 Sleep apnea
HP:0000752 Hyperactivity
HP:0005976 Hyperkalemic metabolic acidosis
HP:0100050 Ivory epiphyses of the 2nd toe
HP:0010802 Perioral hyperpigmentation
HP:0010051 Deviation of the hallux
HP:0012785 Flexion contracture of finger
HP:0010844 EEG with multifocal slow activity
HP:0008070 Sparse hair
HP:0002877 Nocturnal hypoventilation
HP:0000504 Abnormality of vision
HP:0005715 Flattened knee epiphyses
HP:0010458 Female pseudohermaphroditism
HP:0011441 Abnormality of the medulla oblongata
HP:0008035 Retinitis pigmentosa inversa
HP:0000957 Cafe-au-lait spot
HP:0100954 Open operculum
HP:0100452 Osteolytic defects of the middle phalanx of the 3rd toe
HP:0025126 Oral hairy leukoplakia
HP:0030672 Asteroid hyalosis
HP:0000751 Personality changes
HP:0100216 Enlarged epiphysis of the middle phalanx of the 5th toe
HP:0100102 Cone-shaped epiphysis of the distal phalanx of the 2nd toe
HP:0001845 Overlapping toe
HP:0011645 Sinus of Valsalva aneurysm
HP:0006332 Supernumerary maxillary incisor
HP:0100275 Diffuse cerebellar atrophy
HP:0007947 Pericentral retinitis pigmentosa
HP:0000222 Gingival hyperkeratosis
HP:0100078 Bracket epiphyses of the 5th toe
HP:0004311 Abnormality of macrophages
HP:0003321 Biconcave flattened vertebrae
HP:0011885 Hemorrhage of the eye
HP:0030309 Flared distal fibular metaphysis
HP:0004327 Abnormality of the vitreous humor
HP:0040070 Abnormality of upper limb bone
HP:0012872 Abnormal vas deferens morphology
HP:0005989 Redundant neck skin
HP:0001822 Hallux valgus
HP:0009573 Patchy sclerosis of the middle phalanx of the 2nd finger
HP:0006304 Widely-spaced incisors
HP:0009979 Complete duplication of the middle phalanx of the 4th finger
HP:0002634 Arteriosclerosis
HP:0003084 Fractures of the long bones
HP:0011450 CNS infection
HP:0040030 Chorioretinal hypopigmentation
HP:0004605 Absent vertebral body mineralization
HP:0009280 Short 4th finger
HP:0040215 Abnormal circulating insulin level
HP:0009486 Radial deviation of the hand
HP:0025272 Melasma
HP:0030554 Best corrected visual acuity 0.1 LogMAR
HP:0012459 Hypnic headache
HP:0000675 Macrodontia of permanent maxillary central incisor
HP:0010337 Aplasia/Hypoplasia of the 4th toe
HP:0007588 Reticular hyperpigmentation
HP:0000902 Rib fusion
HP:0030722 Ectopic liver
HP:0001808 Fragile nails
HP:3000016 Abnormality of styloglossus muscle
HP:0100158 Bracket epiphysis of the proximal phalanx of the 3rd toe
HP:0008605 Unilateral external ear deformity
HP:0030753 Intrauterine fetal demise of one twin after midgestation
HP:0002917 Hypomagnesemia
HP:0008873 Disproportionate short-limb short stature
HP:0000245 Abnormality of the paranasal sinuses
HP:0100595 Camptocormia
HP:0000319 Smooth philtrum
HP:0002722 Recurrent abscess formation
HP:0012722 Heart block
HP:0005949 Apneic episodes in infancy
HP:0008050 Abnormality of the palpebral fissures
HP:0002803 Congenital contracture
HP:0009856 Patchy sclerosis of proximal phalanx of finger
HP:0003690 Limb muscle weakness
HP:0001748 Polysplenia
HP:0001319 Neonatal hypotonia
HP:0100172 Enlarged epiphysis of the distal phalanx of the 4th toe
HP:0040061 Osteosclerosis of the radius
HP:0003616 Premature separation of centromeric heterochromatin
HP:0012293 Abnormal genital pigmentation
HP:0010200 Symphalangism affecting the middle phalanges of the toes
HP:0100407 Complete duplication of the distal phalanx of the 3rd toe
HP:0008940 Generalized lymphadenopathy
HP:0001792 Small nail
HP:0100858 Celiac artery aneurysm
HP:0003067 Madelung deformity
HP:0030595 Abnormal static automated perimetry test
HP:0008821 Hypoplastic inferior ilia
HP:0100426 Broad middle phalanx of the 4th toe
HP:0002953 Vertebral compression fractures
HP:0012641 Decreased intracranial pressure
HP:0011935 Decreased urinary urate
HP:0012627 Pseudoexfoliation
HP:0004366 Abnormality of glycolysis
HP:0100661 Trigeminal neuralgia
HP:0003220 Abnormality of chromosome stability
HP:0001123 Visual field defect
HP:0100133 Abnormality of the pubic hair
HP:0002703 Abnormality of skull ossification
HP:0004006 Round radial epiphyses
HP:0100074 Small epiphyses of the 4th toe
HP:0100660 Dyskinesia
HP:0010235 Pseudoepiphyses of the phalanges of the hand
HP:0011591 Left aortic arch with cervical origin of the right subclavian artery
HP:0003148 Elevated serum acid phosphatase
HP:0100052 Small epiphyses of the 2nd toe
HP:0100397 Short proximal phalanx of the 5th toe
HP:0100263 Distal symphalangism
HP:0011361 Congenital abnormal hair pattern
HP:0040031 Chorioretinal hyperpigmentation
HP:0011690 Permanent junctional reciprocating tachycardia
HP:0012759 Neurodevelopmental abnormality
HP:0030580 Pinhole visual acuity 1.2 LogMAR
HP:0012573 Global proximal tubulopathy
HP:0011538 Atrial situs inversus
HP:0010424 Complete duplication of the distal phalanx of the 2nd toe
HP:0100558 Hemiatrophy of upper limb
HP:0008468 Abnormal sacral segmentation
HP:0004278 Synostosis involving bones of the hand
HP:0007020 Progressive spastic paraplegia
HP:0011316 Left unicoronal synostosis
HP:0001667 Right ventricular hypertrophy
HP:0010502 Fibular bowing
HP:0005451 Decreased cranial base ossification
HP:0020006 Ciliary body coloboma
HP:0010101 Partial duplication of the phalanges of the hallux
HP:0006135 Decreased finger mobility
HP:0025354 Abnormal cellular phenotype
HP:0100927 Sclerosis of 3rd toe phalanx
HP:0003953 Absent forearm bone
HP:0010751 Chin dimple
HP:0010761 Broad columella
HP:0100383 Aplasia of the middle phalanx of the 5th toe
HP:0000807 Glandular hypospadias
HP:0008544 Abnormally folded helix
HP:0008991 Exercise-induced leg cramps
HP:0012637 Renal calcium wasting
HP:0012522 Spider hemangioma
HP:0005021 Bilateral elbow dislocations
HP:0025015 Abnormal vascular morphology
HP:0012564 Premature epimetaphyseal fusion in tibia
HP:0012107 Increased fibular diameter
HP:0002942 Thoracic kyphosis
HP:0009521 Small epiphysis of the middle phalanx of the 2nd finger
HP:0004464 Postauricular pit
HP:0003320 C1-C2 subluxation
HP:0007905 Abnormal iris vasculature
HP:0007517 Palmoplantar cutis laxa
HP:0005242 Extrahepatic biliary duct atresia
HP:0000629 Periorbital fullness
HP:0010633 Partial anosmia
HP:0010539 Thin calvarium
HP:0010482 Acromelia of the upper limbs
HP:0003722 Neck flexor weakness
HP:0001061 Acne
HP:0100256 Senile plaques
HP:0008293 Long-chain dicarboxylic aciduria
HP:0004132 Dimple on nasal tip
HP:0005450 Calvarial osteosclerosis
HP:0001056 Milia
HP:0005172 Left posterior fascicular block
HP:0011105 Hypervolemia
HP:0030425 Calcified ovarian cyst
HP:0003390 Sensory axonal neuropathy
HP:0025241 Flame-shaped retinal hemorrhage
HP:0000273 Facial grimacing
HP:0011679 Tetralogy of Fallot with pulmonary stenosis
HP:0040260 Decreased size of nasopharyngeal adenoids
HP:0006480 Premature loss of teeth
HP:0012371 Hyperplasia of midface
HP:0004099 Macrodactyly
HP:0010707 1-4 finger syndactyly
HP:0005961 Hypoargininemia
HP:0011874 Heparin-induced thrombocytopenia
HP:0010066 Duplication of phalanx of hallux
HP:0005245 Intestinal hypoplasia
HP:0006813 Hemiclonic seizures
HP:0001934 Persistent bleeding after trauma
HP:0030797 Reduced volume of central subdivision of bed nucleus of stria terminalis
HP:0010249 Enlarged epiphyses of the distal phalanges of the hand
HP:0005236 Chronic calcifying pancreatitis
HP:0030520 Binasal hemianopia
HP:0000729 Autistic behavior
HP:0002491 Spasticity of facial muscles
HP:0002501 Spasticity of pharyngeal muscles
HP:0009384 Cone-shaped epiphyses of the 5th finger
HP:0004936 Venous thrombosis
HP:0030116 Abnormal muscle fiber emerin
HP:0003834 Shoulder dislocation
HP:0002234 Early balding
HP:0004814 Fava bean-induced hemolytic anemia
HP:0006202 Osteolysis of scaphoids
HP:0012582 Bilateral renal dysplasia
HP:0003542 Increased serum pyruvate
HP:0030108 Reduced muscle fiber gamma sarcoglycan
HP:0010331 Aplasia/Hypoplasia of the 3rd toe
HP:0011895 Anemia due to reduced life span of red cells
HP:0008213 Gonadotropin deficiency
HP:0000554 Uveitis
HP:0005344 Abnormality of the carotid arteries
HP:0030522 Peripheral visual field constriction with >50 degrees central field preserved
HP:0002817 Abnormality of the upper limb
HP:0009158 Enlarged epiphysis of the proximal phalanx of the 5th finger
HP:0011231 Prominent eyelashes
HP:0008467 Thoracic hemivertebrae
HP:0025178 Subpleural interstitial thickening
HP:0001941 Acidosis
HP:0002506 Diffuse cerebral atrophy
HP:0003329 Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes
HP:0009426 Distal/middle symphalangism of 3rd finger
HP:0100934 Sclerosis of the proximal phalanx of the 5th toe
HP:0004463 Absent brainstem auditory responses
HP:0012857 Increased scrotal rugation
HP:0010908 Abnormality of lysine metabolism
HP:0010849 EEG with spike-wave complexes (>3.5 Hz)
HP:0040050 Sparse upper eyelashes
HP:0004959 Dilatation of the descending thoracic aorta
HP:0006233 Osteoarthritis of the distal interphalangeal joint
HP:0200041 Skin erosion
HP:0010981 Hypolipoproteinemia
HP:0001001 Abnormality of subcutaneous fat tissue
HP:0000250 Dense calvaria
HP:0000699 Diastema
HP:0012523 Oral aversion
HP:0100088 Abnormality of the epiphysis of the distal phalanx of the 2nd toe
HP:0001430 Abnormality of the calf musculature
HP:0003851 Lytic defects in metaphyses of the upper limbs
HP:0006962 Gait instability, worse in the dark
HP:0100125 Enlarged epiphysis of the proximal phalanx of the 2nd toe
HP:0005143 Anomalous origin of right pulmonary artery from ascending aorta
HP:0100607 Dysmenorrhea
HP:0000190 Abnormality of oral frenula
HP:0003848 Cupped metaphyses of the upper limbs
HP:0011248 Everted antitragus
HP:0010939 Abnormality of the nasal bone
HP:0030676 Satyr ear
HP:0006628 Absent sternal ossification
HP:0030929 1-minute APGAR score of 2
HP:0025195 Central diaphragmatic hernia
HP:0012357 Increased mannosylation of N-linked protein glycosylation
HP:0003416 Spinal canal stenosis
HP:0010282 Thin lower lip vermilion
HP:0025236 Somnambulism
HP:0007700 Anterior segment dysgenesis
HP:0002833 Cystic angiomatosis of bone
HP:0000733 Stereotypy
HP:0009067 Progressive spinal muscular atrophy
HP:0002414 Spina bifida
HP:0008846 Severe intrauterine growth retardation
HP:0011993 Impaired neutrophil bactericidal activity
HP:0000545 Myopia
HP:0005739 Posterior subluxation of radial head
HP:0006858 Impaired distal proprioception
HP:0010445 Primum atrial septal defect
HP:0012541 Cephalohematoma
HP:0100355 Contractures of the distal interphalangeal joint of the 5th toe
HP:0005129 Congenital hypertrophy of left ventricle
HP:0005421 Decreased serum complement C3
HP:0009809 Abnormality of upper limb metaphysis
HP:0005104 Hypoplastic nasal septum
HP:0012650 Perisylvian polymicrogyria
HP:0009016 Upper limb muscle hypoplasia
HP:0007352 Cerebellar calcifications
HP:0030380 Decreased transitional B cell count
HP:0100839 Hepatic agenesis
HP:0009017 Loss of gluteal subcutaneous adipose tissue
HP:0030553 Visual acuity no light perception
HP:0010130 Enlarged epiphysis of the proximal phalanx of the hallux
HP:0007277 Paucity of anterior horn motor neurons
HP:0008188 Thyroid dysgenesis
HP:0030485 Abnormal amplitude of pattern electroretinogram
HP:0011890 Prolonged bleeding following procedure
HP:0000636 Upper eyelid coloboma
HP:0100464 Patchy sclerosis of the proximal phalanx of the 3rd toe
HP:0008828 Delayed proximal femoral epiphyseal ossification
HP:0004798 Recurrent infection of the gastrointestinal tract
HP:0008187 Absence of secondary sex characteristics
HP:0000309 Abnormality of the midface
HP:0007962 Speckled corneal dystrophy
HP:0011327 Posterior plagiocephaly
HP:0005211 Midgut malrotation
HP:0002381 Aphasia
HP:0011977 Elevated urinary homovanillic acid
HP:0003698 Difficulty standing
HP:0008972 Decreased activity of mitochondrial respiratory chain
HP:0007868 Age-related macular degeneration
HP:0100200 Stippling of the epiphysis of the proximal phalanx of the 4th toe
HP:0010562 Keloids
HP:0012132 Erythroid hyperplasia
HP:0100342 Fibular deviation of the 3rd toe
HP:0011433 High maternal serum chorionic gonadotropin
HP:0008369 Abnormal tarsal ossification
HP:0004379 Abnormality of alkaline phosphatase activity
HP:0009545 Symphalangism of the 2nd finger
HP:0012549 Conjunctival lipoma
HP:0100962 Shyness
HP:0011153 Focal motor seizures
HP:0009349 Enlarged epiphysis of the proximal phalanx of the 3rd finger
HP:0004490 Calvarial hyperostosis
HP:0010637 Conjunctival amyloidosis
HP:0100745 Abnormality of the humeroulnar joint
HP:0000431 Wide nasal bridge
HP:0012451 Acute constipation
HP:0009435 Symphalangism of middle phalanx of 3rd finger
HP:0030711 Hydrocolpos
HP:0000743 Frontal release signs
HP:0004557 Anterior vertebral fusion
HP:0010443 Bifid femur
HP:0100471 Symphalangism affecting the middle phalanx of the 4th toe
HP:0006009 Broad phalanx
HP:0002571 Achalasia
HP:0010265 Small epiphyses of the middle phalanges of the hand
HP:0006702 Spontaneous coronary artery dissection
HP:0030089 Abnormal muscle fiber protein expression
HP:0002169 Clonus
HP:0004448 Fulminant hepatic failure
HP:0025118 Lip discoloration
HP:0003354 Hyperthreoninemia
HP:0012731 Ectopic anterior pituitary gland
HP:0001646 Abnormality of the aortic valve
HP:0040116 Aplasia of the Eustachian tube
HP:0011742 Ectopic adrenal gland
HP:0009829 Phocomelia
HP:0006608 Midclavicular hypoplasia
HP:0003406 Peripheral nerve compression
HP:0007479 Congenital nonbullous ichthyosiform erythroderma
HP:0001678 Atrioventricular block
HP:0009350 Fragmentation of the epiphysis of the proximal phalanx of the 3rd finger
HP:0003884 Triangular humerus
HP:0010816 Epidermal nevus
HP:0011733 Abnormality of adrenal physiology
HP:0030086 Reduced CSF lactate
HP:0003836 Stippled calcification of the shoulder
HP:0008311 Spinal cord posterior columns myelin loss
HP:0009187 Bracket epiphysis of the distal phalanx of the 5th finger
HP:0007500 Decreased number of sweat glands
HP:0006896 Hypnopompic hallucinations
HP:0011332 Hemifacial hypoplasia
HP:0000237 Small anterior fontanelle
HP:0002375 Hypokinesia
HP:0040174 Abnormality of extrinsic muscle of tongue
HP:0011038 Abnormality of renal resorption
HP:0010312 Asymmetry of the breasts
HP:0003431 Decreased motor nerve conduction velocity
HP:0010407 Curved middle phalanx of the 2nd toe
HP:0010860 Complete breech presentation
HP:0003288 Mitochondrial propionyl-CoA carboxylase defect
HP:0000922 Posterior rib cupping
HP:0006088 1-5 finger complete cutaneous syndactyly
HP:0002737 Thick skull base
HP:0006308 Atrophy of alveolar ridges
HP:0010437 Short proximal phalanx of the 2nd toe
HP:0025200 Muscle fiber actin filament accumulation
HP:0001702 Abnormality of the tricuspid valve
HP:0030909 Anti-liver cytosolic antigen type 1 antibody positivity
HP:0002203 Respiratory paralysis
HP:0030838 Hip pain
HP:0010774 Cor triatriatrum
HP:0025359 Polygonal renal calices
HP:0006964 Cerebral cortical neurodegeneration
HP:0010371 Aplasia/Hypoplasia of the phalanges of the 4th toe
HP:0030166 Night sweats
HP:0009174 Abnormality of the epiphyses of the 4th finger
HP:0100036 Pseudo-fractures
HP:0011831 Deviated nasal tip
HP:0006339 Conical mandibular incisor
HP:0010313 Breast hypertrophy
HP:0045008 Abnormal shape of the radius
HP:0003915 Lytic defects of the humeral metaphysis
HP:0010472 Abnormality of the heme biosynthetic pathway
HP:0011855 Pharyngeal edema
HP:0012388 Acute bronchitis
HP:0003248 Gonadal tissue inappropriate for external genitalia or chromosomal sex
HP:0001116 Macular coloboma
HP:0200030 Punctate vasculitis skin lesions
HP:0011020 Abnormality of mucopolysaccharide metabolism
HP:0004970 Ascending aortic dilation
HP:0003347 Impaired lymphocyte transformation with phytohemagglutinin
HP:0004411 Deviated nasal septum
HP:0012435 Ventral shortening of foreskin
HP:0004794 Malrotation of small bowel
HP:0009102 Anterior open-bite malocclusion
HP:0100477 Symphalangism affecting the distal phalanx of the 4th toe
HP:0012645 Enlarged peripheral nerve
HP:0009655 Patchy sclerosis of thumb phalanx
HP:0012781 Mid-frequency hearing loss
HP:0007509 Patchy hypo- and hyperpigmentation
HP:0011532 Subretinal exudate
HP:0009668 Fragmentation of the epiphysis of the proximal phalanx of the thumb
HP:0009881 Aplasia of the distal phalanges of the hand
HP:0003403 EMG: decremental response of compound muscle action potential to repetitive nerve stimulation
HP:0025128 Reduced intraabdominal adipose tissue
HP:0008458 Progressive congenital scoliosis
HP:0005574 Non-acidotic proximal tubulopathy
HP:0009025 Increased connective tissue
HP:0007858 Chorioretinal lacunae
HP:0001399 Hepatic failure
HP:0000679 Taurodontia
HP:0030582 Pinhole visual acuity 2.0 LogMAR
HP:0005892 Proximal tibial and fibular fusion
HP:0010036 Aplasia/Hypoplasia of the 2nd metacarpal
HP:0002826 Halberd-shaped pelvis
HP:0002875 Exertional dyspnea
HP:0001880 Eosinophilia
HP:0004684 Talipes valgus
HP:0010186 Broad distal phalanx of the toes
HP:0011476 Profound sensorineural hearing impairment
HP:0005726 Thumbs hypoplastic with bulbous tips
HP:0005310 Large vessel vasculitis
HP:0030583 Pinhole visual acuity 3.0 LogMAR
HP:0002678 Skull asymmetry
HP:0040012 Chromosome breakage
HP:0006059 Cone-shaped metacarpal epiphyses
HP:0007123 Subcortical dementia
HP:0003572 Low plasma citrulline
HP:0011617 Pulmonary situs ambiguus
HP:0010314 Premature thelarche
HP:0002415 Leukodystrophy
HP:0011784 Thyrotoxicosis with diffuse goiter
HP:0010699 Triangular nuclear cataract
HP:0002041 Intractable diarrhea
HP:0000228 Oral cavity telangiectasia
HP:3000048 Abnormality of great auricular nerve
HP:0000511 Vertical supranuclear gaze palsy
HP:0011398 Central hypotonia
HP:0006402 Distal shortening of limbs
HP:0005722 Hyperextensible thumb
HP:0012346 Abnormal protein glycosylation
HP:0012327 Celiac artery compression
HP:0001775 Tarsal osteovalgus
HP:0006000 Ureteral obstruction
HP:0007738 Uncontrolled eye movements
HP:0004729 Acute tubulointerstitial nephritis
HP:0002190 Choroid plexus cyst
HP:0002355 Difficulty walking
HP:0100082 Irregular epiphyses of the 5th toe
HP:0000929 Abnormality of the skull
HP:0008166 Decreased beta-galactosidase activity
HP:0007099 Arnold-Chiari type I malformation
HP:0025106 Nevus roseus
HP:0002912 Methylmalonic acidemia
HP:0004780 Elbow hypertrichosis
HP:0002900 Hypokalemia
HP:0005304 Hypoplastic pulmonary veins
HP:0430011 Defect of palpebral conjunctiva
HP:0008160 3-hydroxydicarboxylic aciduria
HP:0040034 Abnormality of the second metatarsal bone
HP:0011856 Pica
HP:0010377 Symphalangism affecting the phalanges of the 4th toe
HP:0030614 Foveal photoreceptor layer loss on macular OCT
HP:0002691 Platybasia
HP:0002692 Hypoplastic facial bones
HP:0002700 Large foramen magnum
HP:0000609 Optic nerve hypoplasia
HP:0006688 Paroxysmal tachycardia
HP:0000166 Severe periodontitis
HP:0009274 Joint contracture of the 4th finger
HP:0045017 Congenital malformation of the left heart
HP:0012200 Abnormality of prothrombin
HP:0007525 Yellow subcutaneous tissue covered by thin, scaly skin
HP:0006485 Agenesis of incisor
HP:0009332 Abnormality of the epiphysis of the distal phalanx of the 3rd finger
HP:0002329 Drowsiness
HP:0002516 Increased intracranial pressure
HP:0010366 Triangular shaped phalanges of the 3rd toe
HP:0002540 Inability to walk
HP:0012527 Abnormal alpha granule content
HP:0030631 Hyperautofluorescent macular lesion
HP:0012146 Abnormality of von Willebrand factor
HP:0040207 Abnormal CSF biopterin level
HP:0002621 Atherosclerosis
HP:0006703 Aplasia/Hypoplasia of the lungs
HP:0030029 Splayed fingers
HP:0025346 Increased circulating beta-2-microglobulin level
HP:0009233 Triangular shaped proximal phalanx of the 5th finger
HP:0010511 Long toe
HP:0009558 Broad distal phalanx of the 2nd finger
HP:0030043 Hip Subluxation
HP:0003910 Enlarged humeral metaphyses
HP:0000900 Thickened ribs
HP:0000965 Cutis marmorata
HP:0012378 Fatigue
HP:0002590 Paralytic ileus
HP:0100356 Contracture of the metatarsophalangeal joint of the 2nd toe
HP:0003019 Abnormality of the wrist
HP:0000879 Short sternum
HP:0001283 Bulbar palsy
HP:0006558 Decreased mitochondrial complex III activity in liver tissue
HP:0012213 Decreased glomerular filtration rate
HP:0003934 Slender humeral diaphysis
HP:0025342 Central retinal artery occlusion
HP:0011636 Abnormal origin of the coronary arteries
HP:0007913 Reticular retinal dystrophy
HP:0100409 Complete duplication of the distal phalanx of the 5th toe
HP:0100633 Esophagitis
HP:0000189 Narrow palate
HP:0000932 Abnormality of the posterior cranial fossa
HP:0002000 Short columella
HP:0011916 Toe extensor amyotrophy
HP:0010947 Abnormality of ductus venosus blood flow
HP:0011048 Agenesis of permanent mandibular central incisor
HP:0002586 Peritonitis
HP:0030936 Abnormal layering of muscularis propria
HP:0100707 Abnormality of the astrocytes
HP:0040118 Stenosis of the Eustachian tube
HP:0011661 Anomalous origin of left pulmonary artery from ascending aorta
HP:0000703 Dentinogenesis imperfecta
HP:0009411 Bracket epiphyses of the 3rd finger
HP:0001396 Cholestasis
HP:0010027 Broad 1st metacarpal
HP:0100261 Abnormal tendon morphology
HP:0008462 Cervical instability
HP:0025006 Abnormal glomerular capillary morphology
HP:0008315 Decreased plasma free carnitine
HP:0012074 Tonic pupil
HP:0012419 Hyperoxemia
HP:0009783 Biceps aplasia
HP:0006285 Hypomineralization of enamel
HP:0011715 Trifascicular block
HP:0012812 Fullness of paranasal tissue
HP:0011997 Postprandial hyperlactemia
HP:0002635 Atheromatosis
HP:0011526 Abnormality of lens shape
HP:0010866 Abdominal wall defect
HP:0030791 Abnormal jaw morphology
HP:0004293 Synostosis of second metacarpal-trapezoid
HP:0025273 Achilles tendonitis
HP:0007943 Congenital stapes ankylosis
HP:0000202 Oral cleft
HP:0001088 Brushfield spots
HP:0000802 Impotence
HP:0012683 Pineal cyst
HP:0008282 Unconjugated hyperbilirubinemia
HP:0000136 Bifid uterus
HP:0100942 Sclerosis of the distal phalanx of the 5th toe
HP:0011030 Abnormality of transition element cation homeostasis
HP:0011438 Maternal teratogenic exposure
HP:0002442 Dyscalculia
HP:0025045 Abnormal brain lactate level by MRS
HP:0001279 Syncope
HP:0011578 Transitional atrioventricular canal defect
HP:0030035 Struvite nephrolithiasis
HP:0007369 Atrophy/Degeneration affecting the cerebrum
HP:0030197 Fatigable weakness of skeletal muscles
HP:0003352 Endopolyploidy on chromosome studies of bone marrow
HP:0008734 Decreased testicular size
HP:0005645 Intervertebral disk calcification
HP:0011214 EEG with photoparoxysmal response grade IV
HP:0001707 Abnormality of the right ventricle
HP:0200035 Skin plaque
HP:0002086 Abnormality of the respiratory system
HP:0011086 Dentinogenesis imperfecta of primary and permanent teeth
HP:0100431 Broad distal phalanx of the 3rd toe
HP:0030366 Delivery by Odon device
HP:0005430 Recurrent Neisserial infections
HP:0005369 Decreased serum complement factor H
HP:0012705 Abnormal metabolic brain imaging by MRS
HP:0003031 Ulnar bowing
HP:0009772 Patchy sclerosis of finger phalanx
HP:0002661 Painless fractures due to injury
HP:0001837 Broad toe
HP:0010245 Abnormality of the epiphyses of the proximal phalanges of the hand
HP:0040224 Abnormality of fibrinolysis
HP:0011966 Elevated plasma citrulline
HP:0000736 Short attention span
HP:0012391 Hyporeflexia of upper limbs
HP:0011474 Childhood onset sensorineural hearing impairment
HP:0008935 Generalized neonatal hypotonia
HP:0010464 Streak ovary
HP:0002835 Aspiration
HP:0007081 Late-onset muscular dystrophy
HP:0030103 Abnormal muscle fiber beta sarcoglycan
HP:0010181 Duplication of phalanx of toe
HP:0008857 Neonatal short-trunk short stature
HP:3000060 Abnormality of infraorbital artery
HP:0012243 Abnormal genital system morphology
HP:0025289 Cervical lymphadenopathy
HP:0009824 Upper limb undergrowth
HP:0030206 EMG: incremental response of compound muscle action potential to repetitive nerve stimulation
HP:0010783 Erythema
HP:0010810 Long uvula
HP:0030497 Macular cotton wool spots
HP:0002490 Increased CSF lactate
HP:0009761 Anterior clefting of vertebral bodies
HP:0100554 Hemihypertrophy of upper limb
HP:0012604 Hyponatriuria
HP:0009638 Short proximal phalanx of thumb
HP:0005446 Obtuse angle of mandible
HP:0100113 Cone-shaped epiphysis of the middle phalanx of the 2nd toe
HP:0011260 Darwin notch of helix
HP:0006707 Abnormality of the hepatic vasculature
HP:0012668 Vasovagal syncope
HP:0005100 Premature birth following premature rupture of fetal membranes
HP:0200104 Absent fifth fingernail
HP:0009037 Segmental spinal muscular atrophy
HP:0006163 Enlarged metacarpophalangeal joints
HP:0005290 Internal carotid artery hypoplasia
HP:0002608 Celiac disease
HP:0007354 Amyotrophic lateral sclerosis
HP:0011052 Agenesis of maxillary premolar
HP:0005956 Anteroposteriorly shortened larynx
HP:0000324 Facial asymmetry
HP:0010304 Spinal meningeal diverticulum
HP:0008390 Recurrent loss of toenails and fingernails
HP:0000147 Polycystic ovaries
HP:0030185 Isometric tremor
HP:0005512 Impaired neutrophil killing of staphylococci
HP:0010499 Patellar subluxation
HP:0010988 Abnormality of the extrinsic pathway
HP:0008607 Progressive conductive hearing impairment
HP:0003768 Periodic paralysis
HP:0008631 Ureteral dysgenesis
HP:0010305 Absence of the sacrum
HP:0030178 Abnormality of central nervous system electrophysiology
HP:0011118 Abnormality of tumor necrosis factor secretion
HP:0004482 Relative macrocephaly
HP:0003974 Absent radius
HP:0011241 Serpiginous stem of antihelix
HP:0004586 Biconcave vertebral bodies
HP:0004857 Hyperchromic macrocytic anemia
HP:0007266 Cerebral dysmyelination
HP:0011960 Substantia nigra gliosis
HP:0012555 Absent nail of hallux
HP:0000321 Square face
HP:0009544 Abnormality of the proximal phalanx of the 2nd finger
HP:3000002 Abnormal inner ear epithelium morphology
HP:0030306 11 thoracic vertebrae
HP:0010728 Aplasia of the retina
HP:0004340 Abnormality of vitamin B metabolism
HP:0011303 Convex contour of sole
HP:0006459 Dorsal subluxation of ulna
HP:0012770 Reduced arm span
HP:0001172 Abnormality of the thumb
HP:0009473 Joint contracture of the hand
HP:0003527 Hyperprostaglandinuria
HP:0003833 Laterally deficient tibial plateaux
HP:0030162 Glomerulomegaly
HP:0002971 Absent microvilli on the surface of peripheral blood lymphocytes
HP:0005590 Spotty hypopigmentation
HP:0010488 Aplasia/Hypoplasia of the palmar creases
HP:0003553 Cellulitis due to immunodeficiency
HP:0005766 Disproportionate shortening of the tibia
HP:0009799 Supernumerary spleens
HP:0000023 Inguinal hernia
HP:0007979 Gaze-evoked horizontal nystagmus
HP:0010013 Abnormality of the 5th metacarpal
HP:0003323 Progressive muscle weakness
HP:0001600 Abnormality of the larynx
HP:0001334 Communicating hydrocephalus
HP:0010421 Duplication of the distal phalanx of the 2nd toe
HP:0004688 Irregular tarsal bones
HP:0040230 Decreased level of tissue plasminogen activator
HP:0011194 EEG with series of focal spikes
HP:0008948 Proximal upper limb amyotrophy
HP:0100138 Enlarged epiphysis of the distal phalanx of the 3rd toe
HP:0002002 Deep philtrum
HP:0009245 Triangular shaped distal phalanx of the 5th finger
HP:0006189 Prominent interdigital folds
HP:0012736 Profound global developmental delay
HP:0012295 Slender middle phalanx of finger
HP:0002518 Abnormality of the periventricular white matter
HP:0008169 Reduced factor VII activity
HP:0010490 Abnormality of the palmar creases
HP:0008424 Hypoplastic 5th lumbar vertebrae
HP:0002696 Abnormality of the parietal bone
HP:0040145 Dicarboxylic acidemia
HP:0011056 Agenesis of first permanent molar tooth
HP:0025037 Hypothalamic gliosis
HP:0010537 Wide cranial sutures
HP:0030175 Myelin tomacula
HP:0000744 Low frustration tolerance
HP:0002076 Migraine
HP:0001410 Decreased liver function
HP:0010833 Spontaneous pain sensation
HP:0003207 Arterial calcification
HP:0003384 Peripheral axonal atrophy
HP:0003081 Increased urinary potassium
HP:3000064 Abnormality of intrinsic muscle of tongue
HP:0010230 Cone-shaped epiphyses of the phalanges of the hand
HP:0007710 Peripheral vitreous opacities
HP:0007269 Spinal muscular atrophy
HP:0008454 Lumbar kyphosis
HP:0006433 Dysplastic radii
HP:0005004 Flattened proximal radial epiphyses
HP:0003193 Allergic rhinitis
HP:0030662 Vitreous inflammatory cells
HP:0007737 Bone spicule pigmentation of the retina
HP:0100127 Irregular epiphysis of the proximal phalanx of the 2nd toe
HP:0100100 Absent epiphysis of the distal phalanx of the 2nd toe
HP:0012519 Hypoplastic posterior communicating artery
HP:0008357 Reduced factor XIII activity
HP:0030588 Abnormal visual field test
HP:0005487 Prominent metopic ridge
HP:0100253 Abnormality of the medullary cavity of the long bones
HP:0011287 EEG with occipital sharp slow waves
HP:3000050 Abnormality of odontoid tissue
HP:0012894 Paraspinal muscle hypertrophy
HP:0100141 Ivory epiphysis of the distal phalanx of the 3rd toe
HP:0001057 Aplasia cutis congenita
HP:0002965 Cutaneous anergy
HP:0011722 Mixed total anomalous pulmonary venous connection
HP:0010754 Abnormality of the temporomandibular joint
HP:0006529 Abnormal pulmonary lymphatics
HP:0011264 Discontinuous ascending root of helix
HP:0100481 Proximal/middle symphalangism of 4th toe
HP:0003111 Abnormality of ion homeostasis
HP:0008969 Leg muscle stiffness
HP:0100140 Irregular epiphysis of the distal phalanx of the 3rd toe
HP:0008707 Absent scrotum
HP:0002150 Hypercalciuria
HP:0100753 Schizophrenia
HP:0004035 Abnormality of the styloid process of ulna
HP:0100773 Cartilage destruction
HP:0002345 Action tremor
HP:0012521 Optic nerve aplasia
HP:0003170 Abnormality of the acetabulum
HP:0000646 Amblyopia
HP:3000061 Abnormality of infra-orbital nerve
HP:0001040 Multiple pterygia
HP:0100484 Symphalangism of the proximal phalanx of the 3rd toe with the 3rd metatarsal
HP:0005060 Limited elbow flexion/extension
HP:0007506 Congenital absence of skin of limbs
HP:0010920 Zonular cataract
HP:0009528 Fragmentation of the epiphysis of the proximal phalanx of the 2nd finger
HP:0000718 Aggressive behavior
HP:0002451 Limb dystonia
HP:0001084 Corneal arcus
HP:0002951 Partial absence of cerebellar vermis
HP:0011391 Morphological abnormality of the nerves of the inner ear
HP:0100720 Hypoplasia of the ear cartilage
HP:0011172 Complex febrile seizures
HP:0045011 Decreased urine bicarbonate concentration
HP:0007404 Nonepidermolytic palmoplantar keratoderma
HP:0025172 Smooth septal thickening
HP:0011456 Absent stapes
HP:0003839 Abnormality of upper limb epiphysis morphology
HP:0001874 Abnormality of neutrophils
HP:0011375 Cochlear aplasia
HP:0040085 Abnormal circulating aldosterone
HP:0001231 Abnormality of the fingernails
HP:0100693 Iridodonesis
HP:0030858 Addictive behavior
HP:0011638 Anomalous origin of left coronary artery from the pulmonary artery
HP:0012188 Hyperemesis gravidarum
HP:0000176 Submucous cleft hard palate
HP:0012446 Low CSF 5-methyltetrahydrofolate
HP:0000549 Abnormal conjugate eye movement
HP:0010676 Mechanical ileus
HP:0030912 Duplicated clitoris {comment="PMID:23650202"}
HP:0012376 Microphakia
HP:0010210 Triangular shaped proximal phalanges of the toes
HP:0100204 Cone-shaped epiphysis of the distal phalanx of the 5th toe
HP:0011331 Hemifacial atrophy
HP:0040241 Increased RIPA
HP:0011409 Abnormality of placental membranes
HP:0007210 Lower limb amyotrophy
HP:0006554 Acute hepatic failure
HP:0002227 White eyelashes
HP:0007599 Generalized reticulate brown pigmentation
HP:0002521 Hypsarrhythmia
HP:0009769 Bullet-shaped phalanges of the hand
HP:0002370 Poor coordination
HP:0009960 Complete duplication of the phalanges of the 3rd finger
HP:0007990 Hypoplastic iris stroma
HP:0000501 Glaucoma
HP:0007795 Anterior cortical cataract
HP:0012116 Abnormal albumin level
HP:0025371 Delayed ossification of the sacrum
HP:0200119 Acute hepatitis
HP:0009358 Abnormality of the proximal phalanx of the 3rd finger
HP:0003713 Muscle fiber necrosis
HP:0030811 Tongue pain
HP:0100822 Rectocele
HP:0100913 Sclerosis of the proximal phalanx of the thumb
HP:0010999 Aplasia of the optic tract
HP:0003107 Abnormality of cholesterol metabolism
HP:0030262 Narrow penis
HP:0025103 Umbilicated nodule
HP:0003637 Reduced 4-Hydroxyphenylpyruvate dioxygenase activity
HP:0011290 EEG with frontal sharp slow waves
HP:0200005 Abnormal shape of the palpebral fissure
HP:0003105 Protuberances at ends of long bones
HP:0003547 Shoulder girdle muscle weakness
HP:0005305 Cerebral venous thrombosis
HP:0006358 Shovel-shaped maxillary central incisors
HP:0009199 Irregular epiphysis of the proximal phalanx of the 5th finger
HP:0011659 Tetralogy of Fallot with absent pulmonary valve
HP:0030145 Lack of bowel sounds
HP:0007744 Iridoretinal coloboma
HP:0009431 Bullet-shaped middle phalanx of the 3rd finger
HP:0100775 Dural ectasia
HP:0008075 Progressive pes cavus
HP:0009347 Bracket epiphysis of the proximal phalanx of the 3rd finger
HP:0005585 Spotty hyperpigmentation
HP:0002265 Large fleshy ears
HP:0004386 Gastrointestinal inflammation
HP:0001025 Urticaria
HP:0030951 Skeletal muscle fibrosis
HP:0002205 Recurrent respiratory infections
HP:0004059 Radial club hand
HP:0012066 Increased urinary disaccharide excretion
HP:0009714 Abnormality of the epididymis
HP:0001693 Cardiac shunt
HP:0002383 Encephalitis
HP:0000451 Triangular nasal tip
HP:0012314 Bouchard's node
HP:0012143 Abnormality of cells of the megakaryocyte lineage
HP:0030219 Semantic dementia
HP:0001250 Seizures
HP:0002659 Increased susceptibility to fractures
HP:0008726 Hypoplasia of the vagina
HP:0000434 Nasal mucosa telangiectasia
HP:0040106 Morphological abnormality of the lateral semicircular canal
HP:0012499 Descending aortic dissection
HP:0100564 Triplomyelia
HP:0009967 Complete duplication of the proximal phalanx of the 3rd finger
HP:0100689 Decreased corneal thickness
HP:0001785 Ankle swelling
HP:0011175 Versive seizures
HP:0004592 Thoracic platyspondyly
HP:0011321 Left unilambdoid synostosis
HP:0007262 Symmetric peripheral demyelination
HP:0025049 Abnormal brain creatine level by MRS
HP:0005495 Metopic suture patent to nasal root
HP:0008724 Hypoplasia of the ovary
HP:0011062 Misalignment of incisors
HP:0100628 Esophageal diverticulum
HP:0009549 Curved phalanges of the 2nd finger
HP:0003045 Abnormality of the patella
HP:0011028 Abnormality of blood circulation
HP:0011839 Abnormality of T cell count
HP:0025243 Subretinal hemorrhage
HP:0004661 Frontalis muscle weakness
HP:0100905 Sclerosis of the middle phalanx of the 3rd finger
HP:0012505 Enlarged pituitary gland
HP:0005409 Markedly reduced T cell function
HP:0011845 Short second metatarsal
HP:0006511 Laryngeal stridor
HP:0030601 Abnormal posterior segment imaging
HP:0010877 Unilateral strabismus
HP:0010257 Absent epiphyses of the middle phalanges of the hand
HP:0012749 Focal T2 hypointense brainstem lesion
HP:0004573 Anterior wedging of T11
HP:0040042 Aplasia of the eccrine sweat glands
HP:0003657 Granular osmiophilic deposits (GROD) in cells
HP:0030521 Bitemporal hemianopia
HP:0005925 Abnormalities of the diaphyses of the hand
HP:0011206 EEG with generalized slow activity grade 1
HP:0001344 Absent speech
HP:0010773 Partial anomalous pulmonary venous return
HP:0030083 Salt craving
HP:0011939 3-4 finger cutaneous syndactyly
HP:0000939 Osteoporosis
HP:0000602 Ophthalmoplegia
HP:0011217 Abnormal shape of the occiput
HP:0010065 Triangular shaped phalanges of the hallux
HP:0007829 Diffuse retinal cone degeneration
HP:0000829 Hypoparathyroidism
HP:0006921 Axial muscle stiffness
HP:0001849 Foot oligodactyly
HP:0010594 Abnormality of the proximal fibular epiphysis
HP:0009437 Aplasia/Hypoplasia of the middle phalanx of the 3rd finger
HP:0100206 Fragmentation of the epiphysis of the distal phalanx of the 5th toe
HP:0011092 Mulberry molar
HP:0000061 Ambiguous genitalia, female
HP:0200111 Absent stapes head
HP:0009921 Duane anomaly
HP:0025125 White lesion of the oral mucosa
HP:0012588 Steroid-resistant nephrotic syndrome
HP:0003457 EMG abnormality
HP:0100318 Lafora bodies
HP:0030143 Hyperactive bowel sounds
HP:0004962 Thoracic aorta calcification
HP:0009645 Osteolytic defect of the distal phalanx of the thumb
HP:0005922 Abnormal hand morphology
HP:0100547 Abnormality of forebrain morphology
HP:0005340 Spastic/hyperactive bladder
HP:0008362 Aplasia/Hypoplasia of the hallux
HP:0007892 Hypoplasia of the lacrimal puncta
HP:0003048 Radial head subluxation
HP:0100463 Patchy sclerosis of the middle phalanx of the 5th toe
HP:0002101 Abnormal lung lobation
HP:0007057 Poor hand-eye coordination
HP:0003394 Muscle cramps
HP:0002034 Abnormality of the rectum
HP:0012852 Hepatic bridging fibrosis
HP:0030743 Glial remnants anterior to the optic disc
HP:0200159 Agenesis of primary mandibular lateral incisor
HP:0003326 Myalgia
HP:0025167 Fragmented elastic fibers in the dermis
HP:0006561 Lipid accumulation in hepatocytes
HP:0003250 Aplasia of the vagina
HP:0000825 Hyperinsulinemic hypoglycemia
HP:0007780 Cortical pulverulent cataract
HP:0000608 Macular degeneration
HP:0010139 Bracket epiphysis of the distal phalanx of the hallux
HP:0011416 Placental infarction
HP:0010628 Facial palsy
HP:0011258 Tragal bridge of crus of helix
HP:0006026 Rounded epiphyses
HP:0000145 Transverse vaginal septum
HP:0000391 Thickened helices
HP:0030810 Abnormal tongue physiology
HP:0004971 Pulmonary artery hypoplasia
HP:0008659 Multiple small medullary renal cysts
HP:0000847 Abnormality of renin-angiotensin system
HP:0012022 Congenital portosystemic venous shunt
HP:0007002 Motor axonal neuropathy
HP:0010140 Cone-shaped epiphysis of the distal phalanx of the hallux
HP:0008586 Hypoplasia of the cochlea
HP:0100874 Thick hair
HP:0100926 Sclerosis of 2nd toe phalanx
HP:0002792 Reduced vital capacity
HP:0010089 Osteolytic defects of the proximal phalanx of the hallux
HP:0040130 Abnormal serum iron
HP:0008689 Bilateral cryptorchidism
HP:0040237 Impaired binding of factor VIII to VWF
HP:0010380 Abnormality of the distal phalanx of the 4th toe
HP:0030779 Ethmocephaly
HP:0007598 Bilateral single transverse palmar creases
HP:0002677 Small foramen magnum
HP:0001962 Palpitations
HP:0030824 Mizuo phenomenon
HP:0012624 Stage 2 chronic kidney disease
HP:0002757 Recurrent fractures
HP:0005425 Recurrent sinopulmonary infections
HP:0007928 Abnormal flash visual evoked potentials
HP:0007939 Blue cone monochromacy
HP:0030668 Periorbital dermoid cyst
HP:0005917 Supernumerary metacarpal bones
HP:0012602 Renal chloride wasting
HP:0007407 Excessive skin wrinkling on dorsum of hands and fingers
HP:0040049 Macular edema
HP:0000168 Abnormality of the gingiva
HP:0100372 Aplasia/Hypoplasia of the middle phalanx of the 3rd toe
HP:0010002 Complete duplication of the middle phalanges of the hand
HP:0004452 Abnormality of the middle ear ossicles
HP:0100890 Cyst of the ductus choledochus
HP:0007581 Mediosternal, longitudinal streak of hypopigmentation
HP:0011911 Abnormality of metacarpophalangeal joint
HP:0001842 Foot acroosteolysis
HP:0009672 Small epiphysis of the proximal phalanx of the thumb
HP:0012609 Hypomagnesiuria
HP:0006859 Posterior leukoencephalopathy
HP:0100048 Fragmentation of the epiphyses of the 2nd toe
HP:0010975 Abnormality of B cell number
HP:0030292 Tibial metaphyseal irregularity
HP:0011904 Persistence of hemoglobin F
HP:0012558 Abnormal T3/T4 ratio
HP:0002063 Rigidity
HP:0012256 Absent outer dynein arms
HP:0100366 Short phalanx of the 3rd toe
HP:0010921 Coralliform cataract
HP:0005876 Progressive flexion contractures
HP:0100222 Stippling of the epiphysis of the middle phalanx of the 5th toe
HP:0011599 Mesocardia
HP:0010277 Stippling of the epiphyses of the proximal phalanges of the hand
HP:0010651 Abnormality of the meninges
HP:0011019 Abnormality of chromosome condensation
HP:0008817 Aplastic pubic bones
HP:0006253 Swelling of proximal interphalangeal joints
HP:0007802 Granular corneal dystrophy
HP:0100460 Osteolytic defects of the distal phalanx of the 5th toe
HP:0009565 Aplasia of the distal phalanx of the 2nd finger
HP:0025039 Basal ganglia edema
HP:0200048 Cyanotic episode
HP:0010062 Osteolytic defects of the phalanges of the hallux
HP:0001732 Abnormality of the pancreas
HP:0003139 Panhypogammaglobulinemia
HP:0012681 Abnormality of pineal morphology
HP:0011908 Unilateral radial aplasia
HP:0001641 Abnormality of the pulmonary valve
HP:0005652 Cortical sclerosis
HP:0002916 Abnormality of chromosome segregation
HP:0008812 Flattened femoral head
HP:0009669 Irregular epiphysis of the proximal phalanx of the thumb
HP:0008609 Morphological abnormality of the middle ear
HP:0005325 Extension of hair growth on temples to lateral eyebrow
HP:0001460 Aplasia/Hypoplasia involving the skeletal musculature
HP:0012277 Hypoglycinemia
HP:0009289 Aplasia/Hypoplasia of the distal phalanx of the 4th finger
HP:0001604 Vocal cord paresis
HP:0011132 Chronic furunculosis
HP:0002100 Recurrent aspiration pneumonia
HP:0006961 Jerky head movements
HP:0030805 Absent lunula
HP:0004646 Hypoplasia of the nasal bone
HP:0007017 Progressive forgetfulness
HP:0005035 Shortening of all phalanges of the toes
HP:0000598 Abnormality of the ear
HP:0010291 Prominent palatine ridges
HP:0030784 Anomia
HP:0011188 Focal EEG discharges with secondary generalization
HP:0000612 Iris coloboma
HP:0004286 Patchy sclerosis of hand bones
HP:0010399 Osteolytic defects of the proximal phalanx of the 2nd toe
HP:0000782 Abnormality of the scapula
HP:0003563 Hypobetalipoproteinemia
HP:0006979 Sleep-wake cycle disturbance
HP:0040240 Increased ratio of VWF propeptide to VWF antigen
HP:0012429 Aplasia/Hypoplasia of the cerebral white matter
HP:0011237 Broad inferior crus of antihelix
HP:0011125 Abnormality of dermal melanosomes
HP:0030843 Cardiac amyloidosis
HP:0010656 Abnormal epiphyseal ossification
HP:0003970 Undermodelled forearm bones
HP:3000027 Abnormality of buccinator muscle
HP:0004267 Narrow small joints of the hand
HP:0000151 Aplasia of the uterus
HP:0012616 Leukocyte cylindruria
HP:0000828 Abnormality of the parathyroid gland
HP:0030154 Gallbladder perforation
HP:0003013 Bulging epiphyses
HP:0000276 Long face
HP:0002959 Impaired Ig class switch recombination
HP:0010652 Abnormality of the dura mater
HP:0007988 Macular hypopigmentation
HP:0001216 Delayed ossification of carpal bones
HP:0200147 Neuronal loss in basal ganglia
HP:0009051 Increased muscle glycogen content
HP:0000767 Pectus excavatum
HP:0100674 Vaginal hematocele
HP:0030131 Abnormal von Willebrand factor multimer distribution
HP:0012819 Myocarditis
HP:0003330 Abnormal bone structure
HP:0010910 Hypervalinemia
HP:0010116 Enlarged epiphyses of the hallux
HP:0012089 Arteritis
HP:0000455 Broad nasal tip
HP:0008670 Partial vaginal septum
HP:0100442 Bullet-shaped distal phalanx of the 5th toe
HP:0001518 Small for gestational age
HP:0010290 Short hard palate
HP:0006559 Hepatic calcification
HP:0030708 Myeloschisis
HP:0009654 Osteolytic defect of thumb phalanx
HP:0040120 Abnormality of the reflex of the tensor tympanii muscle
HP:0000495 Recurrent corneal erosions
HP:0003758 Reduced subcutaneous adipose tissue
HP:0001144 Orbital cyst
HP:0000992 Cutaneous photosensitivity
HP:0009464 Ulnar deviation of the 2nd finger
HP:0100852 Abnormal fear/anxiety-related behavior
HP:0011493 Central opacification of the cornea
HP:0007326 Progressive choreoathetosis
HP:0002200 Pseudobulbar signs
HP:0025261 Stiff finger
HP:0000843 Hyperparathyroidism
HP:0005368 Abnormality of humoral immunity
HP:0030769 Exencephaly
HP:0000086 Ectopic kidney
HP:0011452 Functional abnormality of the middle ear
HP:0003066 Limited knee extension
HP:0002314 Degeneration of the lateral corticospinal tracts
HP:0000617 Abnormality of ocular smooth pursuit
HP:0010658 Patchy changes of bone mineral density
HP:0000070 Ureterocele
HP:0100299 Muscle fiber inclusion bodies
HP:0012372 Abnormal eye morphology
HP:0004040 Corner fragments of ulnar metaphysis
HP:0001074 Atypical nevi in non-sun exposed areas
HP:0003398 Abnormal synaptic transmission at the neuromuscular junction
HP:0009376 Aplasia/Hypoplasia of the phalanges of the 5th finger
HP:0001770 Toe syndactyly
HP:0040235 Leukocyte inclusion bodies
HP:0000421 Epistaxis
HP:0012600 Abnormal urine chloride concentration
HP:0011387 Enlarged vestibular aqueduct
HP:0011974 Myelofibrosis
HP:0005946 Ventilator dependence with inability to wean
HP:0030049 Brain abscess
HP:0012221 Pretibial blistering
HP:0010991 Abnormality of the abdominal musculature
HP:0009568 Aplasia/Hypoplasia of the middle phalanx of the 2nd finger
HP:0012634 Iris pigment dispersion
HP:0100778 Cryoglobulinemia
HP:0002470 Nonprogressive cerebellar ataxia
HP:0006470 Thin long bone diaphyses
HP:0004918 Hyperchloremic metabolic acidosis
HP:0001786 Narrow foot
HP:0100087 Triangular epiphyses of the 5th toe
HP:0100907 Sclerosis of the middle phalanx of the 5th finger
HP:0011922 Abnormal activity of mitochondrial respiratory chain
HP:0004345 Abnormality of ganglioside metabolism
HP:0000689 Dental malocclusion
HP:0001041 Facial erythema
HP:0005857 Cervical spina bifida
HP:0030925 5-minute APGAR score of 5
HP:0011920 Transudative pleural effusion
HP:0008338 Partial functional complement factor D deficiency
HP:0002751 Kyphoscoliosis
HP:0007697 Hypoplasia of the lower eyelids
HP:0001007 Hirsutism
HP:0005543 Reduced protein C activity
HP:0005349 Hypoplasia of the epiglottis
HP:0000437 Depressed nasal tip
HP:0003568 Decreased glucosephosphate isomerase activity
HP:0012130 Abnormality of cells of the erythroid lineage
HP:0008652 Autonomic erectile dysfunction
HP:0005768 2-4 toe cutaneous syndactyly
HP:0011274 Recurrent mycobacterial infections
HP:0003232 Mitochondrial malic enzyme reduced
HP:0009275 Contracture of the distal interphalangeal joint of the 4th finger
HP:0006147 Progressive fusion 2nd-5th pip joints
HP:0008702 Absent internal genitalia
HP:0008433 Reversed usual vertebral column curves
HP:0004432 Agammaglobulinemia
HP:0007459 Generalized anhidrosis
HP:0011223 Metopic depression
HP:0100418 Partial duplication of the distal phalanx of the 5th toe
HP:0100182 Cone-shaped epiphysis of the middle phalanx of the 4th toe
HP:0011663 Right ventricular cardiomyopathy
HP:0012633 Asymmetry of intraocular pressure
HP:0002013 Vomiting
HP:0030210 Muscle specific kinase antibody positivity
HP:0008964 Nonprogressive muscular atrophy
HP:0100900 Sclerosis of the distal phalanx of the 2nd finger
HP:0004582 Irregularity of vertebral bodies
HP:0012490 Panniculitis
HP:0007397 Axillary apocrine gland hypoplasia
HP:0010358 Abnormality of the proximal phalanx of the 2nd toe
HP:0011514 Abnormality of binocular vision
HP:0012572 Ureter duplex
HP:0030136 Enhanced ristocetin cofactor assay activity
HP:0005665 Massively thickened long bone cortices
HP:0006392 Increased density of long bones
HP:0100626 Chronic hepatic failure
HP:0006438 Enlargement of the distal femoral epiphysis
HP:0010270 Cone-shaped epiphyses of the proximal phalanges of the hand
HP:0001322 Brain very small
HP:0100255 Metaphyseal dysplasia
HP:0003761 Calcinosis
HP:0008464 Absent spinous processes of lower thoracic and lumbar vertebrae
HP:0006368 Forearm reduction defects
HP:0004284 Notched hand bones
HP:0010976 B lymphocytopenia
HP:0001773 Short foot
HP:0001959 Polydipsia
HP:0001315 Reduced tendon reflexes
HP:0007443 Partial albinism
HP:0002104 Apnea
HP:0010373 Bullet-shaped 4th toe phalanx
HP:0002748 Rickets
HP:0009794 Branchial anomaly
HP:0011751 Abnormality of the posterior pituitary
HP:0003524 Decreased methionine synthase activity
HP:0011962 Obstructive azoospermia
HP:0005341 Autonomic bladder dysfunction
HP:0030295 Metaphyseal chondromatosis of femur
HP:0030523 Peripheral visual field constriction with 40-50 degrees central field preserved
HP:0008922 Childhood-onset short-trunk short stature
HP:0045043 Decreased serum complement C4a
HP:0000124 Renal tubular dysfunction
HP:0000236 Abnormality of the anterior fontanelle
HP:0100938 Sclerosis of the middle phalanx of the 5th toe
HP:0000905 Progressive clavicular acroosteolysis
HP:0009553 Abnormality of the hairline
HP:0010042 Aplasia/Hypoplasia of the 4th metacarpal
HP:0010945 Fetal pyelectasis
HP:0012134 Dysplastic erythropoesis
HP:0007475 Congenital bullous ichthyosiform erythroderma
HP:0012187 Increased erythrocyte protoporphyrin concentration
HP:0001863 Toe clinodactyly
HP:0012214 Increased glomerular filtration rate
HP:0030494 Macular microaneurysm/hemorrhage
HP:0045037 Abnormality of jaw muscles
HP:0030640 Complete congenital stationary night blindness
HP:0005233 Hypoplasia of the gallbladder
HP:0010540 Advanced pneumatization of cranial sinuses
HP:0001178 Ulnar claw
HP:0430026 Abnormality of the shape of the midface
HP:0002693 Abnormality of the skull base
HP:0009194 Small epiphyses of the metacarpals
HP:0006904 Late-onset spinocerebellar degeneration
HP:0010806 U-Shaped upper lip vermilion
HP:0007200 Episodic hypersomnia
HP:0007915 Polymorphous posterior corneal dystrophy
HP:0012227 Urethral stricture
HP:0100600 Penoscrotal transposition
HP:0001639 Hypertrophic cardiomyopathy
HP:0100293 Muscle fiber hypertrophy
HP:0000946 Hypoplastic ilia
HP:0001782 Bulbous tips of toes
HP:0011437 Maternal autoimmune disease
HP:0030933 1-minute APGAR score of 6
HP:0009664 Absent epiphysis of the proximal phalanx of the thumb
HP:0030903 Grasp reflex
HP:0011654 Double outlet right ventricle with non-committed ventricular septal defect without pulmonary stenosis
HP:0010176 Curved toe phalanx
HP:0005522 Pyridoxine-responsive sideroblastic anemia
HP:0004929 Coronary atherosclerosis
HP:0002235 Pili canaliculi
HP:0003065 Patellar hypoplasia
HP:0004268 Osteoarthritis of the small joints of the hand
HP:0025266 Cervical osteoarthritis
HP:0030669 Abnormal morphology of the ocular adnexa
HP:0000526 Aniridia
HP:0012707 Elevated brain lactate level by MRS
HP:0100028 Ectopic thyroid
HP:0030173 Peripheral hypermyelination
HP:0001890 Autoimmune hemolytic anemia
HP:0012216 Entrapment neuropathy of suprascapular nerve
HP:0004029 Lytic defects of radial diaphysis
HP:0000110 Renal dysplasia
HP:0000422 Abnormality of the nasal bridge
HP:0030482 Abnormal timing of light-adapted single flash electroretinogram
HP:0009816 Lower limb undergrowth
HP:0100500 Fibular deviation of toes
HP:0010497 Sirenomelia
HP:3000038 Abnormality of cricoid cartilage
HP:0010003 Partial duplication of the proximal phalanges of the hand
HP:0001115 Posterior polar cataract
HP:0009231 Patchy sclerosis of the proximal phalanx of the 5th finger
HP:0011912 Abnormality of the glenoid fossa
HP:0005950 Laryngeal web
HP:0011770 Tertiary hyperparathyroidism
HP:0100155 Stippling of the epiphysis of the middle phalanx of the 3rd toe
HP:0003194 Short nasal bridge
HP:0001898 Increased red blood cell mass
HP:0008887 Adipose tissue loss
HP:0030400 Abnormal platelet lysosome secretion
HP:0030654 Umbilical cord cyst
HP:0002087 Abnormality of the upper respiratory tract
HP:0000092 Tubular atrophy
HP:0030685 Decreased adiponectin level
HP:0011707 Mobitz I atrioventricular block
HP:0008057 Aplasia/Hypoplasia affecting the fundus
HP:0009291 Aplasia of the distal phalanx of the 4th finger
HP:0004026 Broad radial metaphysis
HP:0004844 Coombs-positive hemolytic anemia
HP:0005110 Atrial fibrillation
HP:0005008 Large joint dislocations
HP:0030469 Abnormal dark-adapted electroretinogram
HP:0030917 Low APGAR score
HP:0001705 Right ventricular outlet obstruction
HP:0030579 Pinhole visual acuity 1.1 LogMAR
HP:0009325 Fragmentation of the epiphysis of the middle phalanx of the 3rd finger
HP:0040202 Abnormal consumption behavior
HP:0005626 Posterior fusion of lumbosacral vertebrae
HP:0011443 Abnormality of coordination
HP:0005792 Short humerus
HP:0000533 Chorioretinal atrophy
HP:0001872 Abnormality of thrombocytes
HP:0003405 Diffuse axonal swelling
HP:0000528 Anophthalmia
HP:0002607 Bowel incontinence
HP:0002149 Hyperuricemia
HP:0003919 Sclerotic humeral metaphysis with longitudinal striations
HP:0010577 Absent epiphyses
HP:0012576 Glomerular C3 deposition
HP:0012711 Delayed ossification of vertebral epiphysis
HP:0003152 Increased serum 1,25-dihydroxyvitamin D3
HP:0200150 Increased serum bile acid concentration during pregnancy
HP:0000047 Hypospadias
HP:0005906 Delayed pneumatization of the mastoid process
HP:0004977 Bilateral radial aplasia
HP:0009703 Synostosis involving the 1st metacarpal
HP:0012663 Mildly reduced ejection fraction
HP:0100192 Bracket epiphysis of the proximal phalanx of the 4th toe
HP:0005716 Lethal skeletal dysplasia
HP:0007609 Hypoproteinemic edema
HP:0008444 Posterior wedging of vertebral bodies
HP:0006376 Limited elbow flexion
HP:0000015 Bladder diverticulum
HP:0008515 Aplasia/Hypoplasia of the vertebrae
HP:0005224 Rectal abscess
HP:0001120 Abnormality of corneal size
HP:0002840 Lymphadenitis
HP:0008297 Transient hyperphenylalaninemia
HP:0002539 Cortical dysplasia
HP:0008202 Prolactin deficiency
HP:0012080 Cerebellar granular layer atrophy
HP:0009770 Curved phalanges of the hand
HP:0012697 Small basal ganglia
HP:0008404 Nail dystrophy
HP:0004030 Patchy sclerosis of radial diaphysis
HP:0100126 Fragmentation of the epiphysis of the proximal phalanx of the 2nd toe
HP:0010311 Aplasia/Hypoplasia of the breasts
HP:0009189 Fragmentation of the metacarpal epiphyses
HP:0009603 Deviation of the thumb
HP:0025152 Poor visual behavior for age
HP:0008461 Cervical vertebral facet hypoplasia
HP:0002594 Pancreatic hypoplasia
HP:0010689 Mirror image polydactyly
HP:0030014 Female sexual dysfunction
HP:0002269 Abnormality of neuronal migration
HP:0004354 Abnormality of carboxylic acid metabolism
HP:0009952 Complete duplication of the middle phalanx of the 2nd finger
HP:0030808 Ragged cuticle
HP:0006846 Acute encephalopathy
HP:0002631 Ascending aortic aneurysm
HP:0002073 Progressive cerebellar ataxia
HP:0001623 Breech presentation
HP:0000541 Retinal detachment
HP:0010110 Aplasia of the phalanges of the hallux
HP:0007987 Progressive visual field defects
HP:0040022 Clinodactyly of the 2nd finger
HP:0007453 Flexural lichenification
HP:0100584 Endocarditis
HP:0011523 Iris cyst
HP:0012098 Edema of the dorsum of feet
HP:0009802 Aplasia of the phalanges of the hand
HP:0012689 Abnormal pineal melatonin secretion
HP:0009879 Cortical gyral simplification
HP:0006267 Large placenta
HP:0010741 Edema of the lower limbs
HP:0030518 Congruous homonymous hemianopia
HP:0010088 Curved proximal phalanx of the hallux
HP:0008239 Adrenal medullary hypoplasia
HP:0005638 Decreased anterioposterior diameter of lumbar vertebral bodies
HP:0025326 Retinal arterial occlusion
HP:0010123 Triangular epiphyses of the hallux
HP:0008230 Decreased testosterone in males
HP:0010259 Cone-shaped epiphyses of the middle phalanges of the hand
HP:0002641 Peripheral thrombosis
HP:0012758 Neurodevelopmental delay
HP:0009333 Abnormality of the epiphysis of the proximal phalanx of the 3rd finger
HP:0004303 Abnormality of muscle fibers
HP:0040054 Short upper eyelashes
HP:0025019 Arterial rupture
HP:0000224 Decreased taste sensation
HP:0200125 Mitochondrial respiratory chain defects
HP:0012546 Skewed maternal X inactivation
HP:0011823 Chin with horizontal crease
HP:0009656 Symphalangism of the thumb
HP:0001984 Intolerance to protein
HP:0005557 Abnormality of the zygomatic arch
HP:0008439 Lumbar hemivertebrae
HP:0004018 Flared radial metaphysis
HP:0040129 Abnormal nerve conduction velocity
HP:0002281 Gray matter heterotopias
HP:0025251 Open comedo
HP:0002392 EEG with polyspike wave complexes
HP:0000925 Abnormality of the vertebral column
HP:0003370 Flat capital femoral epiphysis
HP:0100518 Dysuria
HP:0003694 Late-onset proximal muscle weakness
HP:0000631 Retinal arterial tortuosity
HP:0025186 Marcus Gunn jaw winking synkinesis
HP:0000478 Abnormality of the eye
HP:0100059 Fragmentation of the epiphyses of the 3rd toe
HP:0001891 Iron deficiency anemia
HP:0001045 Vitiligo
HP:0009514 Bracket epiphysis of the middle phalanx of the 2nd finger
HP:0011927 Short digit
HP:0012774 Increased upper to lower segment ratio
HP:0011083 Conical maxillary incisor
HP:0003210 Decreased methylmalonyl-CoA mutase activity
HP:0007643 Peripheral traction retinal detachment
HP:0100537 Fasciitis
HP:0006213 Thin proximal phalanges with broad epiphyses of the hand
HP:0030160 Cervicitis
HP:0010465 Precocious puberty in females
HP:0001844 Abnormality of the hallux
HP:0005595 Generalized hyperkeratosis
HP:0005932 Abnormal renal corticomedullary differentiation
HP:0010019 Fragmentation of the epiphysis of the 1st metacarpal
HP:0011999 Paranoia
HP:0008443 Spinal deformities
HP:0009216 Cone-shaped epiphysis of the middle phalanx of the 4th finger
HP:0004676 Prominent supraorbital arches in adult
HP:0003789 Minicore myopathy
HP:0000383 Abnormality of periauricular region
HP:0030040 Fused lumbar vertebrae
HP:0030205 Increased jitter at single fibre EMG
HP:0006574 Hepatic arteriovenous malformation
HP:0002519 Hypnagogic hallucinations
HP:0011324 Multiple suture craniosynostosis
HP:0100161 Fragmentation of the epiphysis of the proximal phalanx of the 3rd toe
HP:0011057 Agenesis of second permanent molar
HP:0030842 Choking episodes
HP:0002312 Clumsiness
HP:0007111 Chronic hepatic encephalopathy
HP:0000527 Long eyelashes
HP:0004247 Small scaphoid
HP:0003158 Hyposthenuria
HP:0001920 Renal artery stenosis
HP:0011573 Hypoplastic tricuspid valve
HP:0100265 Synostosis of metacarpals/metatarsals
HP:0002752 Sparse bone trabeculae
HP:0006101 Finger syndactyly
HP:0007740 Long eyelashes in irregular rows
HP:0040142 5-oxoprolinase deficiency
HP:0006236 Slender metacarpals
HP:0100670 Rough bone trabeculation
HP:0003380 Decreased number of peripheral myelinated nerve fibers
HP:0009721 Shagreen patch
HP:0100118 Pseudoepiphysis of the middle phalanx of the 2nd toe
HP:0000677 Oligodontia
HP:0011317 Right unicoronal synostosis
HP:0010517 Ectopic thymus tissue
HP:0012815 Hypoplastic female external genitalia
HP:0002098 Respiratory distress
HP:0009576 Absent middle phalanx of 2nd finger
HP:0001377 Limited elbow extension
HP:0008000 Decreased corneal reflex
HP:0007514 Edema of the dorsum of hands
HP:0002504 Calcification of the small brain vessels
HP:0003551 Difficulty climbing stairs
HP:0100685 Abnormality of Sharpey fibers
HP:0030948 Elevated gamma-glutamyltransferase activity
HP:0030478 Abnormal amplitude of dark-adapted bright flash electroretinogram
HP:0008331 Elevated creatine kinase after exercise
HP:0011896 Subconjunctival hemorrhage
HP:0009571 Curved middle phalanx of the 2nd finger
HP:0012249 Abnormal ST segment
HP:0003854 Sclerosis of metaphyses of the upper limbs
HP:0007344 Atrophy/Degeneration involving the spinal cord
HP:0100282 Acute colitis
HP:0000154 Wide mouth
HP:0010153 Fragmentation of the epiphysis of the 1st metatarsal
HP:0004009 Medially sloping radial epiphyses
HP:0040236 Hyperfibrinolysis
HP:0200050 Bracket metacarpal epiphyses
HP:0012088 Abnormal urinary odor
HP:0002731 Decreased lymphocyte apoptosis
HP:0002335 Agenesis of cerebellar vermis
HP:0000214 Lip telangiectasia
HP:0009259 Stippling of the epiphysis of the distal phalanx of the 4th finger
HP:0012215 Testicular microlithiasis
HP:0003700 Generalized amyotrophy
HP:0011469 Nasal regurgitation
HP:0005463 Elongated sella turcica
HP:0011921 Exudative pleural effusion
HP:0004337 Abnormality of amino acid metabolism
HP:0002454 Eye of the tiger anomaly of globus pallidus
HP:0007628 Mandibular condyle hypoplasia
HP:0040051 Abnormality of upper eyelashes
HP:0010906 Hyperhistidinemia
HP:0007537 Severe photosensitivity
HP:0003022 Hypoplasia of the ulna
HP:0030886 Abnormal lymphocyte apoptosis
HP:0006175 Proximal phalangeal periosteal thickening
HP:0007618 Subcutaneous calcification
HP:0030752 Dacryocystocele
HP:0011435 Low maternal serum PAPP-A
HP:0000627 Posterior embryotoxon
HP:0001437 Abnormality of the musculature of the lower limbs
HP:0010954 Hypoplastic right heart
HP:0005912 Biliary atresia
HP:0011369 Mongolian blue spot
HP:0100690 Mosaic central corneal dystrophy
HP:0009420 Triangular epiphyses of the 3rd finger
HP:0040024 Clinodactyly of the 3rd finger
HP:0100271 Hyponasal speech
HP:0006634 Osteosclerosis of ribs
HP:0003858 Cortical diaphyseal irregularity of the upper limbs
HP:0011918 Clinodactyly of the 4th toe
HP:0010195 Broad middle phalanges of the toes
HP:0004218 Symphalangism of the 5th finger
HP:0003613 Antiphospholipid antibody positivity
HP:0006460 Increased laxity of ankles
HP:0006381 Rudimentary fibula
HP:0030781 Increased circulating free fatty acid level
HP:0010650 Hypoplasia of the premaxilla
HP:0000494 Downslanted palpebral fissures
HP:0012595 Mild proteinuria
HP:0000674 Anodontia
HP:0001596 Alopecia
HP:0007813 Nongranulomatous uveitis
HP:0006581 Depletion of mitochondrial DNA in liver
HP:0030639 Congenital stationary night blindness with abnormal fundus
HP:0009520 Pseudoepiphysis of the middle phalanx of the 2nd finger
HP:0002688 Absent frontal sinuses
HP:0001005 Dermatological manifestations of systemic disorders
HP:0006522 Repeated pneumothoraces
HP:0002919 Ketonuria
HP:0001311 Abnormal nervous system electrophysiology
HP:0012428 Prominent calcaneus
HP:0040204 Elevated CSF neopterin level
HP:0003635 Loss of subcutaneous adipose tissue in limbs
HP:0011242 Underdeveloped stem of antihelix
HP:0002254 Intermittent diarrhea
HP:0012897 Abnormal upper-limb motor evoked potentials
HP:0410008 Abnormality of the peripheral nervous system
HP:0001709 Third degree atrioventricular block
HP:0007613 Spinous keratoses of palms and soles
HP:0011550 Biventricular heart with straddling right sided atrioventricular valve and absent left sided atrioventricular connection
HP:0000142 Abnormality of the vagina
HP:0040071 Abnormal morphology of ulna
HP:0007411 Hypoplastic-absent sebaceous glands
HP:0030950 Pulmonary venous hypertension
HP:0009507 Irregular epiphysis of the distal phalanx of the 2nd finger
HP:0005070 Proximal radial head dislocation
HP:0003763 Bruxism
HP:0011318 Bicoronal synostosis
HP:0012629 Phacodonesis
HP:0005033 Distal ulnar hypoplasia
HP:0004367 Abnormality of glycoprotein metabolism
HP:0010214 Contracture of the interphalangeal joint of the hallux
HP:0009892 Anotia
HP:0010536 Central sleep apnea
HP:0008697 Hypoplasia of the fallopian tube
HP:0009104 Aplasia/Hypoplasia of the pubic bone
HP:0000099 Glomerulonephritis
HP:0006149 Increased laxity of fingers
HP:0100027 Recurrent pancreatitis
HP:0010892 Abnormality of branched chain family amino acid metabolism
HP:0025034 Abnormal morphology of erythroid progenitor cell
HP:0100493 Hypoammonemia
HP:0100410 Complete duplication of the middle phalanx of the 3rd toe
HP:0012125 Prostate cancer
HP:0007906 Increased intraocular pressure
HP:0001406 Intrahepatic cholestasis
HP:0009497 Stippling of the epiphyses of the 2nd finger
HP:0012640 Abnormality of intracranial pressure
HP:0004150 Abnormality of the 3rd finger
HP:0100119 Small epiphysis of the middle phalanx of the 2nd toe
HP:0007663 Reduced visual acuity
HP:0008655 Aplasia/Hypoplasia of the fallopian tube
HP:0000491 Keratitis
HP:0030004 Cicatricial lagophthalmos
HP:0002209 Sparse scalp hair
HP:0010765 Palmar hyperkeratosis
HP:0011346 Mild expressive language delay
HP:0004950 Peripheral arterial disease
HP:0007258 Severe demyelination of the white matter
HP:0007239 Congenital encephalopathy
HP:0002475 Myelomeningocele
HP:0000387 Absent earlobe
HP:0001117 Sudden loss of visual acuity
HP:0004230 Subluxation of the proximal interphalangeal joint of the little finger
HP:0000808 Penoscrotal hypospadias
HP:0002832 Calcific stippling
HP:0012631 Pigment deposition in the trabecular meshwork
HP:0100730 Bronchogenic cyst
HP:0001942 Metabolic acidosis
HP:0000505 Visual impairment
HP:0003070 Elbow ankylosis
HP:0200097 Oral mucosal blisters
HP:0009679 Fragmentation of the epiphysis of the distal phalanx of the thumb
HP:0025099 Dysgenesis of the thalamus
HP:3000055 Abnormality of inferior alveolar nerve
HP:0100708 Abnormality of the microglia
HP:0011043 Abnormality of circulating adrenocorticotropin level
HP:0007772 Impaired smooth pursuit
HP:0100146 Absent epiphysis of the middle phalanx of the 3rd toe
HP:0005968 Temperature instability
HP:0005848 Bifid thumb distal phalanx
HP:0430006 Ectopic cilia of eyelid
HP:0430017 Abnormality of uvular muscle
HP:0007768 Central retinal vessel vascular tortuosity
HP:0030675 Contracture of proximal interphalangeal joints of 2nd-5th fingers
HP:0007950 Peripapillary chorioretinal atrophy
HP:0006590 Premature sternal synostosis
HP:0100879 Enlarged ovaries
HP:0011731 Abnormality of circulating cortisol level
HP:0030047 Abnormality of lateral ventricle
HP:0001643 Patent ductus arteriosus
HP:0007260 Type II lissencephaly
HP:0003154 Increased circulating ACTH level
HP:3000037 Abnormality of neck blood vessel
HP:0001544 Prominent umbilicus
HP:0004786 Jejunal diverticula
HP:0003275 Narrow pelvis bone
HP:0040195 Decreased head circumference
HP:0003795 Short middle phalanx of toe
HP:0007602 Complex palmar dermatoglyphic pattern
HP:0003803 Type 1 muscle fiber predominance
HP:0001832 Abnormality of the metatarsal bones
HP:0025084 Folliculitis
HP:0002710 Commissural lip pit
HP:0003739 Myoclonic spasms
HP:0012112 Abnormality of circulating corticosterone level
HP:0030008 Cervical agenesis
HP:0009688 Cone-shaped epiphysis of the thumb
HP:0002215 Sparse axillary hair
HP:0002287 Progressive alopecia
HP:0000546 Retinal degeneration
HP:0040135 Abnormal transferrin saturation
HP:0002578 Gastroparesis
HP:0009602 Abnormality of thumb phalanx
HP:0002991 Abnormality of the fibula
HP:0003183 Wide pubic symphysis
HP:0100416 Partial duplication of the distal phalanx of the 3rd toe
HP:0002066 Gait ataxia
HP:0100861 Vertebral body sclerosis
HP:0100749 Chest pain
HP:0003927 Cortical irregularity of humeral diaphysis
HP:0025122 Sawtooth acanthosis
HP:0011491 Reduced number of corneal endothelial cells
HP:0006426 Rudimentary to absent tibiae
HP:0040227 Decreased level of histidine-rich glycoprotein
HP:0045036 Abnormal urinary copper concentration
HP:0009846 Curved middle phalanges of the hand
HP:0006990 Myelin-dependent gliosis
HP:0003541 Urinary glycosaminoglycan excretion
HP:0012224 Circulating immune complexes
HP:0011905 Reduced hemoglobin A
HP:0000271 Abnormality of the face
HP:0030949 Glomerular deposits
HP:0008537 Cleft at the superior portion of the pinna
HP:0040203 Abnormal CSF neopterin level
HP:0005964 Intermittent hypothermia
HP:0000685 Hypoplasia of teeth
HP:0008449 Progressive cervical vertebral spine fusion
HP:0010170 Small epiphyses of the toes
HP:0007661 Abnormality of chorioretinal pigmentation
HP:0001605 Vocal cord paralysis
HP:0040148 Cortical myoclonus
HP:0012195 Irregular respiration
HP:0010811 Narrow uvula
HP:0009469 Contracture of the distal interphalangeal joint of the 3rd finger
HP:0003261 Increased IgA level
HP:0000832 Primary hypothyroidism
HP:0009417 Pseudoepiphyses of the 3rd finger
HP:0004261 Wide hamate bone
HP:0012308 Decreased serum complement C9
HP:0008323 Abnormal light- and dark-adapted electroretinogram
HP:0030025 Auricular pit
HP:0000696 Delayed eruption of permanent teeth
HP:0025240 Preretinal hemorrhage
HP:0006297 Hypoplasia of dental enamel
HP:0008749 Laryngeal hypoplasia
HP:0025016 Abnormal capillary morphology
HP:0100351 Contractures of the proximal interphalangeal joint of the 5th toe
HP:0011106 Hypovolemia
HP:0004052 Delayed ossification of the hand bones
HP:0004875 Neonatal inspiratory stridor
HP:0004469 Chronic bronchitis
HP:0200053 Hemihypotrophy of lower limb
HP:0011698 Supraventricular tachycardia with a manifest accessory pathway on the septum
HP:0002963 Abnormal delayed hypersensitivity skin test
HP:0100037 Abnormality of the scalp hair
HP:0011867 Abnormality of the wing of the ilium
HP:0040190 White scaling skin
HP:0011100 Intestinal atresia
HP:0010724 Advanced pneumatization of the mastoid process
HP:0001680 Coarctation of aorta
HP:0030835 Elbow pain
HP:0000535 Sparse and thin eyebrow
HP:0001042 High axial triradius
HP:0005326 Hypoplastic philtrum
HP:0011186 Focal epileptiform discharges with limited propagation to contralateral hemisphere
HP:3000046 Abnormality of geniohyoid muscle
HP:0030232 Increased sarcoplasmic glycogen
HP:0100830 Round ear
HP:0003267 Reduced orotidine 5-prime phosphate decarboxylase activity
HP:0100903 Sclerosis of the distal phalanx of the 5th finger
HP:0005353 Susceptibility to herpesvirus
HP:0011486 Abnormality of corneal thickness
HP:0010185 Aplasia/Hypoplasia of the distal phalanges of the toes
HP:0000632 Lacrimation abnormality
HP:0005114 Abnormalities of the peripheral arteries
HP:0001118 Juvenile cataract
HP:0001762 Talipes equinovarus
HP:0002797 Osteolysis
HP:0200096 Triangular-shaped open mouth
HP:0025143 Chills
HP:0011665 Takotsubo cardiomyopathy
HP:0400007 Polymenorrhea
HP:0007281 Developmental stagnation
HP:0007052 Multifocal cerebral white matter abnormalities
HP:0100629 Midline facial cleft
HP:0011719 Supracardiac total anomalous pulmonary venous connection
HP:0001996 Chronic metabolic acidosis
HP:0000711 Restlessness
HP:0000357 Abnormal location of ears
HP:0100739 Bulimia
HP:0010601 Abnormality of the proximal ulnar epiphysis
HP:0005995 Decreased adipose tissue around neck
HP:0002544 Retrocollis
HP:0003489 Acute episodes of neuropathic symptoms
HP:0009663 Abnormality of the epiphysis of the proximal phalanx of the thumb
HP:0010431 Short phalanx of the 2nd toe
HP:0012102 Abnormal mitochondrial number
HP:0002010 Narrow maxilla
HP:0011039 Abnormality of the helix
HP:0030931 1-minute APGAR score of 4
HP:0003842 Irregular epiphyses of the upper limbs
HP:0003402 Decreased miniature endplate potentials
HP:0025310 Oval pupil
HP:0001937 Microangiopathic hemolytic anemia
HP:0000193 Bifid uvula
HP:0007678 Lacrimal duct stenosis
HP:0002167 Neurological speech impairment
HP:0012094 Abnormal pancreas size
HP:0000722 Obsessive-compulsive behavior
HP:0011352 Severe receptive language delay
HP:0006794 Loss of ability to walk in first decade
HP:0011569 Cleft anterior mitral valve leaflet
HP:0010700 Total cataract
HP:0011509 Macular hyperpigmentation
HP:0003099 Fibular overgrowth
HP:0011330 Metopic synostosis
HP:0011302 Long palm
HP:0007166 Paroxysmal dyskinesia
HP:0010919 Abnormality of homocysteine metabolism
HP:0007006 Dorsal column degeneration
HP:0005709 2-3 toe cutaneous syndactyly
HP:0001501 6 metacarpals
HP:0007930 Prominent epicanthal folds
HP:0000910 Wide-cupped costochondral junctions
HP:0004365 Abnormality of tryptophan metabolism
HP:0011639 Anomalous origin of right coronary artery from the pulmonary artery
HP:0001618 Dysphonia
HP:0030196 Fatigable weakness of respiratory muscles
HP:0010069 Bullet-shaped 1st metatarsal
HP:0007105 Infantile encephalopathy
HP:0011301 Absent foot
HP:0004396 Poor appetite
HP:0007695 Abnormal pupillary light reflex
HP:0008033 Congenital exotropia
HP:0040221 Hypoplasia of the dental root
HP:0012714 Severe hearing impairment
HP:0000117 Renal phosphate wasting
HP:0008478 Scheuermann-like vertebral changes
HP:0100040 Broad 2nd toe
HP:0012656 Reduced CSF dopamine level
HP:0011282 Abnormality of hindbrain morphology
HP:0012439 Abnormal biliary tract physiology
HP:0006855 Cerebellar vermis atrophy
HP:0009354 Small epiphysis of the proximal phalanx of the 3rd finger
HP:0010179 Symphalangism affecting the phalanges of the toes
HP:0011278 Intrapulmonary sequestration
HP:0006369 Irregular patellae
HP:0100483 Symphalangism of the proximal phalanx of the 2nd toe with the 2nd metatarsal
HP:0010143 Irregular epiphysis of the distal phalanx of the hallux
HP:0003134 Abnormality of peripheral nerve conduction
HP:0030486 Abnormal timing of pattern electroretinogram
HP:0001548 Overgrowth
HP:0000872 Hashimoto thyroiditis
HP:0010935 Abnormality of the upper urinary tract
HP:0012355 Abnormal mannosylation of N-linked protein glycosylation
HP:0010489 Absent palmar crease
HP:0010423 Partial duplication of the proximal phalanx of the 2nd toe
HP:0008058 Aplasia/Hypoplasia of the optic nerve
HP:0001647 Bicuspid aortic valve
HP:0011961 Non-obstructive azoospermia
HP:0007375 Abnormality of the septum pellucidum
HP:0010698 Nuclear pulverulent cataract
HP:0040004 Abnormality of corneal shape
HP:0003310 Abnormality of the odontoid process
HP:0100408 Complete duplication of the distal phalanx of the 4th toe
HP:0001836 Camptodactyly of toe
HP:0010395 Aplasia/hypoplasia of the proximal phalanx of the 2nd toe
HP:0100543 Cognitive impairment
HP:0040073 Abnormal morphology of forearm bone
HP:0030517 Heteronymous hemianopia
HP:0007481 Hyperpigmented nevi
HP:0004447 Poikilocytosis
HP:0000556 Retinal dystrophy
HP:0008615 Adult onset sensorineural hearing impairment
HP:0004450 Preauricular skin furrow
HP:0100842 Septo-optic dysplasia
HP:0000311 Round face
HP:0011651 Double outlet right ventricle with doubly committed ventricular septal defect and pulmonary stenosis
HP:0200120 Chronic active hepatitis
HP:0002404 Thickened superior cerebellar peduncle
HP:0001013 Eruptive xanthomas
HP:0001278 Orthostatic hypotension
HP:0012163 Carotid artery aneurysm
HP:0001038 Warfarin-induced skin necrosis
HP:0030587 Abnormal Hardy-Rand-Rittler plate test
HP:0005146 Cardiac valve calcification
HP:0009935 Aplasia/Hypoplasia of the nasal septum
HP:0006965 Acute necrotizing encephalopathy
HP:0010158 Stippling of the epiphysis of the 1st metatarsal
HP:0006051 Metacarpal periosteal thickening
HP:0011088 Dens in dente
HP:0012335 Abnormality of folate metabolism
HP:0008142 Delayed calcaneal ossification
HP:0006515 Interstitial pneumonitis
HP:0100847 Palmoplantar pustulosis
HP:0200158 Agenesis of permanent mandibular lateral incisor
HP:0100482 Proximal/middle symphalangism of 5th toe
HP:0002996 Limited elbow movement
HP:0008278 Cerebellar cortical atrophy
HP:0012597 Heavy proteinuria
HP:0001875 Neutropenia
HP:0010665 Bilateral coxa valga
HP:0100309 Subdural hemorrhage
HP:0006298 Prolonged bleeding after dental extraction
HP:0008818 Large iliac wings
HP:0030163 Abnormal vascular physiology
HP:0012013 EEG with temporal focal spike waves
HP:0009835 Aplasia/Hypoplasia of the distal phalanges of the hand
HP:0100559 Lower limb asymmetry
HP:0025060 Multifocal splenic abscess
HP:0012265 Ciliary dyskinesia
HP:0007376 Abnormality of the choroid plexus
HP:0100639 Erectile abnormalities
HP:0010236 Small epiphyses of the phalanges of the hand
HP:0010238 Triangular epiphyses of the phalanges of the hand
HP:0011465 Duodenal aganglionosis
HP:0100401 Duplication of the middle phalanx of the 3rd toe
HP:0200161 Agenesis of mandibular incisor
HP:0001691 Muscular subvalvular aortic stenosis
HP:0005694 Partial fusion of proximal row of carpal bones
HP:0009903 Conjunctival nodule
HP:0007993 Malformed lacrimal ducts
HP:0025247 Dermoid cyst
HP:0008628 Abnormality of the stapes
HP:0008784 Wide capital femoral epiphyses
HP:0008660 Renotubular dysgenesis
HP:0011407 Proportionate tall stature
HP:0010099 Partial duplication of the 1st metatarsal
HP:0003273 Hip contracture
HP:0012121 Panuveitis
HP:0000573 Retinal hemorrhage
HP:0100841 Microgastria
HP:0005616 Accelerated skeletal maturation
HP:0410010 Abnormality of somatic nerve plexus
HP:0008316 Abnormal mitochondria in muscle tissue
HP:0000256 Macrocephaly
HP:0008054 Abnormality of the vasculature of the conjunctiva
HP:0009950 Complete duplication of the distal phalanx of the 2nd finger
HP:0010847 EEG with spike-wave complexes (<2.5 Hz)
HP:0030804 Trachyonychia
HP:0008985 Increased intramuscular fat
HP:0100802 Malposition of the stomach
HP:0011162 Psychic auras
HP:0002552 Trichodysplasia
HP:0011233 Antihelical shelf
HP:0007879 Allergic conjunctivitis
HP:0010743 Short metatarsal
HP:0004352 Abnormality of purine metabolism
HP:0006937 Impaired distal tactile sensation
HP:0000126 Hydronephrosis
HP:0012472 Eclabion
HP:0000863 Central diabetes insipidus
HP:0000962 Hyperkeratosis
HP:0005213 Pancreatic calcification
HP:0000191 Accessory oral frenulum
HP:0005952 Decreased pulmonary function
HP:0040163 Abnormal pelvis bone morphology
HP:0000919 Abnormality of the costochondral junction
HP:0009124 Abnormality of adipose tissue
HP:0004630 Anterior beaking of thoracic vertebrae
HP:0010363 Osteolytic defects of the phalanges of the 3rd toe
HP:0045050 Increased DLCO
HP:0001927 Acanthocytosis
HP:0001930 Nonspherocytic hemolytic anemia
HP:0009852 Broad proximal phalanges of the hand
HP:0009936 Narrow nasal septum
HP:3000018 Abnormality of zygomaticus major muscle
HP:0010681 Elevated intestinal alkaline phosphatase
HP:0003850 Upper-limb metaphyseal irregularity
HP:0003454 Platelet antibody positive
HP:0007333 Hypoplasia of the frontal lobes
HP:0003044 Shoulder flexion contracture
HP:0009723 Abnormality of the subungual region
HP:0009748 Large earlobe
HP:0002297 Red hair
HP:0002789 Tachypnea
HP:0000943 Dysostosis multiplex
HP:0009899 Prominent crus of helix
HP:0011357 Abnormality of hair density
HP:0002296 Progressive hypotrichosis
HP:0005587 Profuse pigmented skin lesions
HP:0011929 Hypersegmentation of proximal phalanx of third finger
HP:0009670 Ivory epiphysis of the proximal phalanx of the thumb
HP:0100389 Short distal phalanx of the 3rd toe
HP:0000292 Loss of facial adipose tissue
HP:0002839 Urinary bladder sphincter dysfunction
HP:0000179 Thick lower lip vermilion
HP:0002626 Venous varicosities of celiac and mesenteric vessels
HP:0002494 Abnormal rapid eye movement sleep
HP:0007460 Autoamputation of digits
HP:0005791 Cortical thickening of long bone diaphyses
HP:0000741 Apathy
HP:0009164 Abnormal calcification of the carpal bones
HP:0011286 Total colonic aganglionosis
HP:0004732 Impaired renal uric acid clearance
HP:0003074 Hyperglycemia
HP:0001440 Metatarsal synostosis
HP:0200122 Atypical or prolonged hepatitis
HP:0001024 Skin dimple over apex of long bone angulation
HP:0010839 Increased urinary copper concentration
HP:0011703 Sinus tachycardia
HP:0005882 Dermatoglyphic variants
HP:0000637 Long palpebral fissure
HP:0010687 Low intestinal alkaline phosphatase
HP:0004399 Congenital pyloric atresia
HP:0009556 Absent tibia
HP:0030276 Small scrotum
HP:0001821 Broad nail
HP:0002035 Rectal prolapse
HP:0001852 Sandal gap
HP:0000073 Ureteral duplication
HP:0007490 Linear arrays of macular hyperkeratoses in flexural areas
HP:0410000 Abnormality of vomer
HP:0000869 Secondary amenorrhea
HP:3000020 Abnormality of zygomaticus minor muscle
HP:0011936 Decreased plasma total carnitine
HP:0002853 Increased proportion of HLA DR+ and CD57+ T cells
HP:0004606 Unossified vertebral bodies
HP:0004294 Subluxation of metacarpal phalangeal joints
HP:0001944 Dehydration
HP:0010886 Osteochondritis Dissecans
HP:0008061 Aplasia/Hypoplasia of the retina
HP:0001908 Hypoplastic anemia
HP:0009206 Enlarged epiphysis of the middle phalanx of the 5th finger
HP:0009911 Abnormality of the temporal bone
HP:0011556 Double inlet right ventricle
HP:0000592 Blue sclerae
HP:0030228 Abnormal muscle fiber valosin-containing protein
HP:0100148 Cone-shaped epiphysis of the middle phalanx of the 3rd toe
HP:0011190 Uni- and bilateral multifocal epileptiform discharges
HP:0030223 Perseveration
HP:0009981 Partial duplication of the distal phalanx of the 4th finger
HP:0004817 Drug-sensitive hemolytic anemia
HP:0003409 Distal sensory impairment of all modalities
HP:0009631 Bullet-shaped proximal phalanx of the thumb
HP:0001722 High-output congestive heart failure
HP:0009491 Enlarged epiphyses of the 2nd finger
HP:0003117 Abnormality of circulating hormone level
HP:0030026 Squared superior portion of helix
HP:0011790 Activating thyroid-stimulating hormone receptor defect
HP:0030441 Anal margin Paget's disease
HP:0006913 Frontal cortical atrophy
HP:0002062 Morphological abnormality of the pyramidal tract
HP:0012488 Intraventricular arachnoid cyst
HP:0012408 Medullary nephrocalcinosis
HP:0004395 Malnutrition
HP:0000045 Abnormality of the scrotum
HP:0000172 Abnormality of the uvula
HP:0008457 Caudal interpedicular narrowing
HP:0000831 Insulin-resistant diabetes mellitus
HP:0004872 Incisional hernia
HP:0001500 Broad finger
HP:0006230 Unilateral oligodactyly
HP:0007400 Irregular hyperpigmentation
HP:0012892 Facial muscle hypertrophy
HP:0001097 Keratoconjunctivitis sicca
HP:0001820 Leukonychia
HP:0008497 Congenital craniofacial dysostosis
HP:0011111 Abnormality of immune serum protein physiology
HP:0007341 Diffuse swelling of cerebral white matter
HP:0002837 Recurrent bronchitis
HP:0009831 Mononeuropathy
HP:0002091 Restrictive ventilatory defect
HP:0200040 Epidermal cyst
HP:0011136 Aplasia of the sweat glands
HP:0004357 Abnormality of leucine metabolism
HP:0003093 Limited hip extension
HP:0010532 Paroxysmal vertigo
HP:0007608 Abnormal palmar dermal ridges
HP:0008094 Widely spaced toes
HP:0001716 Wolff-Parkinson-White syndrome
HP:0000452 Choanal stenosis
HP:0008636 Lobular glomerulopathy
HP:0100960 Asymmetric ventricles
HP:0012300 Ureteral agenesis
HP:0010848 EEG with spike-wave complexes (2.5-3.5 Hz)
HP:0000468 Increased adipose tissue around the neck
HP:0007201 Cerebral artery atherosclerosis
HP:0008744 Abnormality of the aryepiglottic fold
HP:0000581 Blepharophimosis
HP:0001493 Falciform retinal fold
HP:0010117 Fragmentation of the epiphyses of the hallux
HP:0004792 Rectoperineal fistula
HP:0001251 Ataxia
HP:0004968 Recurrent cerebral hemorrhage
HP:0004419 Recurrent thrombophlebitis
HP:0010808 Protruding tongue
HP:0005959 Impaired gluconeogenesis
HP:0100152 Ivory epiphysis of the middle phalanx of the 3rd toe
HP:0010630 Abnormality of metatarsal epiphysis
HP:0006865 Sensorimotor polyneuropathy affecting arms more than legs
HP:0005442 Widely patent coronal suture
HP:0001809 Split nail
HP:0005208 Secretory diarrhea
HP:0004016 Cupped radial metaphyses
HP:0012662 Parietal hypometabolism in FDG PET
HP:0011400 Abnormal CNS myelination
HP:0003338 Focal necrosis of right ventricular muscle cells
HP:0005580 Duplication of renal pelvis
HP:0008833 Irregular acetabular roof
HP:0005423 Dysfunctional alternative complement pathway
HP:0005116 Arterial tortuosity
HP:0030634 Perifoveal ring of hyperautofluorescence surrounded by abnormal autofluorescence
HP:0007330 Frontal encephalocele
HP:0004692 4-5 toe syndactyly
HP:0007899 Retinal nonattachment
HP:0011903 Hemoglobin H
HP:0045052 Abnormality of the brachial nerve plexus
HP:0000623 Supranuclear ophthalmoplegia
HP:0007965 Undetectable visual evoked potentials
HP:0002157 Azotemia
HP:0002721 Immunodeficiency
HP:0010559 Vertical clivus
HP:0010188 Curved distal toe phalanx
HP:0010092 Triangular shaped proximal phalanx of the hallux
HP:0009113 Diaphragmatic weakness
HP:0007811 Horizontal pendular nystagmus
HP:0011616 Pulmonary situs inversus
HP:0004328 Abnormality of the anterior segment of the globe
HP:0100538 Abnormality of the supraorbital ridges
HP:0006603 Flared, irregular rib ends
HP:0012235 Drug-induced agranulocytosis
HP:0009179 Deviation of the 5th finger
HP:0003124 Hypercholesterolemia
HP:0011347 Abnormality of ocular abduction
HP:0025123 White streaks/specks on enamel.
HP:0012902 Myotonia of the lower limb
HP:0100347 Tibial deviation of the 5th toe
HP:0011439 Anesthetic-induced rhabdomylosis
HP:0011633 Complete left sided absence of pericardium
HP:0005680 Tongue-like lumbar vertebral deformities
HP:0004484 Craniofacial asymmetry
HP:0100816 Lip hyperpigmentation
HP:0003121 Limb joint contracture
HP:0010244 Abnormality of the epiphyses of the middle phalanges of the hand
HP:0005829 Maldevelopment of radioulnar joint
HP:0000746 Delusions
HP:0009232 Symphalangism affecting the proximal phalanx of the 5th finger
HP:0025246 Trichilemmal cyst
HP:0011862 Abnormal bone collagen fibril morphology
HP:0000077 Abnormality of the kidney
HP:0002955 Granulomatosis
HP:0001733 Pancreatitis
HP:0010759 Prominence of the premaxilla
HP:0008684 Aplasia/hypoplasia of the uterus
HP:0006584 Small abnormally formed scapulae
HP:0006944 Abolished vibration sense
HP:0009011 Hypoplasia of serratus anterior muscle
HP:0011513 Retinal cavernous angioma
HP:0012015 EEG with frontal focal spikes
HP:0008507 Static ophthalmoparesis
HP:0006501 Aplasia/Hypoplasia of the radius
HP:0000868 Decreased fertility in females
HP:0011528 Solitary congenital hypertrophy of retinal pigment epithelium
HP:0100433 Broad distal phalanx of the 5th toe
HP:0100425 Broad middle phalanx of the 3rd toe
HP:0045047 HbS hemoglobin
HP:0004240 Sclerotic foci within carpal bones
HP:0030814 Orange discoloured tonsils
HP:0004850 Recurrent deep vein thrombosis
HP:0001085 Papilledema
HP:0007327 Mixed demyelinating and axonal polyneuropathy
HP:0030794 Abnormal C-peptide level
HP:0005144 Left ventricular septal hypertrophy
HP:0003130 Abnormal peripheral myelination
HP:0004466 Prolonged brainstem auditory evoked potentials
HP:0030278 Hypoplastic vertebral pedicle
HP:0010138 Absent epiphysis of the distal phalanx of the hallux
HP:0010418 Patchy sclerosis of the distal phalanx of the 2nd toe
HP:0007656 Lacrimal gland aplasia
HP:0011350 Mild receptive language delay
HP:0010348 Broad phalanges of the 2nd toe
HP:0001260 Dysarthria
HP:0030372 Decreased naive B cell count
HP:0030281 Cervical C3/C4 vertebral fusion
HP:0000400 Macrotia
HP:0009279 Radial deviation of the 4th finger
HP:0025098 Dysgenesis of the hypothalamus
HP:0009937 Facial hirsutism
HP:0011113 Abnormality of cytokine secretion
HP:0001215 Camptodactyly of 2nd-5th fingers
HP:0006420 Asymmetric radial dysplasia
HP:0030744 Hyaloid vascular remnant and retrolental mass
HP:0001700 Myocardial necrosis
HP:0040246 Reduced antithrombin antigen
HP:0100357 Contracture of the metatarsophalangeal joint of the 3rd toe
HP:0000580 Pigmentary retinopathy
HP:0004855 Reduced protein S activity
HP:0030671 Abnormality of the common tendinous ring
HP:0009630 Broad proximal phalanx of the thumb
HP:0100939 Sclerosis of the distal phalanx of the 2nd toe
HP:0010353 Symphalangism affecting the phalanges of the 2nd toe
HP:0008153 Periodic hypokalemic paresis
HP:0004935 Pulmonary artery atresia
HP:0040107 Morphological abnormality of the posterior semicircular canal
HP:0001436 Abnormality of the foot musculature
HP:0040175 Platelet-activating factor acetylhydrolase deficiency
HP:0200108 Shortened outer dynein arms
HP:0003606 Absent urinary urothione
HP:0030236 Abnormality of muscle size
HP:0005117 Elevated diastolic blood pressure
HP:0100377 Aplasia/hypoplasia of the proximal phalanx of the 5th toe
HP:0012653 Status asthmaticus
HP:0100066 Absent epiphyses of the 4th toe
HP:0012753 T2 hypointense basal ganglia
HP:0009896 Abnormality of the antitragus
HP:0100671 Abnormal trabecular bone morphology
HP:0009616 Bifid first metacarpal
HP:0009884 Tapered distal phalanges of finger
HP:0006863 Severe expressive language delay
HP:0000223 Abnormality of taste sensation
HP:0010469 Absent testis
HP:0006274 Reduced pancreatic beta cells
HP:0004930 Abnormality of the pulmonary vasculature
HP:0001188 Hand clenching
HP:0100646 Thyroiditis
HP:0010587 Triangular epiphyses
HP:0025101 Dysgenesis of the hippocampus
HP:0000100 Nephrotic syndrome
HP:0002398 Degeneration of anterior horn cells
HP:0007078 Decreased amplitude of sensory action potentials
HP:0002275 Poor motor coordination
HP:0012890 Posteriorly placed anus
HP:0000274 Small face
HP:0000753 Autism with high cognitive abilities
HP:0030870 Abnormality of spinal facet joint
HP:0002793 Abnormal pattern of respiration
HP:0002006 Facial cleft
HP:0003958 Cross-fusion of the forearm bones
HP:0030233 Bethlem sign
HP:0030643 Vitelliform-like retinal lesions
HP:0005240 Esophageal obstruction
HP:0012252 Abnormal respiratory system morphology
HP:0004241 Stippled calcification in carpal bones
HP:0010880 Increased nuchal translucency
HP:0012103 Abnormality of the mitochondrion
HP:0006367 Crumpled long bones
HP:0009149 Triangular epiphysis of the distal phalanx of the 5th finger
HP:0030148 Heart murmur
HP:0005084 Anterior radial head dislocation
HP:0030093 Abnormal muscle fiber laminin beta 1
HP:0005120 Abnormality of cardiac atrium
HP:0001907 Thromboembolism
HP:0010167 Irregular epiphyses of the toes
HP:0005900 Fifth metacarpal with ulnar notch
HP:0030893 Abnormal response to short acting pulmonary vasodilator
HP:0005328 Progeroid facial appearance
HP:0012304 Hypoplastic aortic arch
HP:0006016 Delayed phalangeal epiphyseal ossification
HP:0011828 Midline sinus of philtrum
HP:0030952 Birdshot choroidal lesions
HP:0004172 Abnormality of the middle phalanx of the 3rd finger
HP:0012601 Hypochloriduria
HP:0010052 Abnormality of the proximal phalanx of the hallux
HP:0010748 Ectopic lacrimal punctum
HP:0004934 Vascular calcification
HP:0000460 Narrow nose
HP:0010060 Bullet-shaped hallux phalanx
HP:0004044 Pointed ulnar metaphysis
HP:0004921 Abnormality of magnesium homeostasis
HP:0005429 Recurrent systemic pyogenic infections
HP:0000338 Hypomimic face
HP:0010067 Aplasia/hypoplasia of the 1st metatarsal
HP:0008682 Acute tubular necrosis
HP:0005295 Pseudocoarctation of the aorta
HP:0010800 Absent cupid's bow
HP:0025129 Abnormal small intestinal mucosa morphology
HP:0010040 Aplasia of the 3rd metacarpal
HP:0025173 Nodular septal thickening
HP:0012395 Seasonal allergy
HP:0007680 Depigmented fundus
HP:0012504 Abnormal size of pituitary gland
HP:0100556 Hemiatrophy
HP:0004232 Accessory carpal bones
HP:0011144 Age-related posterior subcapsular cataract
HP:0008181 Abetalipoproteinemia
HP:0001839 Split foot
HP:0008665 Clitoral hypertrophy
HP:0100951 Enlarged fossa interpeduncularis
HP:0025314 Choroidal nevus
HP:0100035 Phonic tics
HP:0004245 Comma-shaped scaphoid
HP:0011595 Left aortic arch with retroesophageal right subclavian artery
HP:0030850 Abnormal pulse pressure
HP:0009311 Bullet-shaped proximal phalanx of the 4th finger
HP:0100069 Enlarged epiphyses of the 4th toe
HP:0006573 Acute hepatic steatosis
HP:0025014 Subcutaneous spheroids
HP:0001276 Hypertonia
HP:0007495 Prematurely aged appearance
HP:0010164 Cone-shaped epiphyses of the toes
HP:0002927 Histidinuria
HP:0005374 Cellular immunodeficiency
HP:0010071 Osteolytic defects of the 1st metatarsal
HP:0003224 Increased cellular sensitivity to UV light
HP:0012698 Cerebellar gliosis
HP:0012363 Decreased sialylation of O-linked protein glycosylation
HP:0006504 Anomaly of the limb diaphyses
HP:0000407 Sensorineural hearing impairment
HP:0007034 Generalized hyperreflexia
HP:0004028 Spurs of radial diaphysis
HP:0008997 Proximal muscle weakness in upper limbs
HP:0003800 Muscle abnormality related to mitochondrial dysfunction
HP:0005567 Renal magnesium wasting
HP:0012560 Decreased T3/T4 ratio
HP:0002483 Bulbar signs
HP:0011572 Supramitral ring
HP:0001349 Facial diplegia
HP:0010895 Abnormality of glycine metabolism
HP:0100809 Scalp tenderness
HP:0006440 Increased density of long bone diaphyses
HP:0007465 Honeycomb palmoplantar keratoderma
HP:0003239 Phosphoethanolaminuria
HP:0430010 Microblepharia
HP:0100297 Increased endomysial connective tissue
HP:0009677 Cone-shaped epiphysis of the distal phalanx of the thumb
HP:0000694 Shell teeth
HP:0003843 Round epiphyses of the upper limbs
HP:0002654 Multiple epiphyseal dysplasia
HP:0030605 Abnormal indocyanine green angiography
HP:0000684 Delayed eruption of teeth
HP:0009148 Small epiphysis of the distal phalanx of the 5th finger
HP:0006510 Chronic obstructive pulmonary disease
HP:0001096 Keratoconjunctivitis
HP:0003102 Increased carrying angle
HP:0010987 Abnormality of cellular immune system
HP:0001710 Conotruncal defect
HP:0025232 Bursitis
HP:0004180 Short distal phalanx of the 3rd finger
HP:0009339 Fragmentation of the epiphysis of the distal phalanx of the 3rd finger
HP:0007941 Limited extraocular movements
HP:0000944 Abnormality of the metaphyses
HP:0002196 Myelopathy
HP:0012607 Abnormal urine magnesium concentration
HP:0009423 Bullet-shaped distal phalanx of the 3rd finger
HP:0003976 Constricted radius
HP:0007777 Chorioretinal scar
HP:0100247 Recurrent singultus
HP:0010254 Small epiphyses of the distal phalanges of the hand
HP:0006527 Lymphoid interstitial pneumonia
HP:0012745 Short palpebral fissure
HP:0040201 Simultanapraxia
HP:0007265 Absent mesencephalon
HP:0100226 Cone-shaped epiphysis of the proximal phalanx of the 5th toe
HP:0030780 Abnormality of the protein C anticoagulant pathway
HP:0002990 Fibular aplasia
HP:0006824 Cranial nerve paralysis
HP:0011192 Polymorphic focal epileptiform discharges
HP:0011518 Dichromacy
HP:0010268 Absent epiphyses of the proximal phalanges of the hand
HP:0006110 Shortening of all middle phalanges of the fingers
HP:0008242 Pseudohypoaldosteronism
HP:0010758 Abnormality of the premaxilla
HP:0007146 Bilateral basal ganglia lesions
HP:0008823 Hypoplastic inferior pubic rami
HP:0030171 Perirenal hematoma
HP:0010476 Aplasia/Hypoplasia of the bladder
HP:0000800 Cystic renal dysplasia
HP:0004296 Abnormality of gastrointestinal vasculature
HP:0002686 Prenatal maternal abnormality
HP:0030081 Punctate periventricular T2 hyperintense foci
HP:0010296 Ankyloglossia
HP:0100561 Spinal cord lesion
HP:0010885 Aseptic necrosis
HP:0001176 Large hands
HP:0009527 Enlarged epiphysis of the proximal phalanx of the 2nd finger
HP:0001133 Constriction of peripheral visual field
HP:0008341 Distal renal tubular acidosis
HP:0012090 Abnormality of pancreas morphology
HP:0000765 Abnormality of the thorax
HP:0009249 Abnormality of the epiphysis of the distal phalanx of the 4th finger
HP:0010093 Duplication of the proximal phalanx of the hallux
HP:0000619 Impaired convergence
HP:0100498 Deviation of toes
HP:0000480 Retinal coloboma
HP:0025201 Abnormal apolipoprotein level
HP:0009134 Osteolysis involving bones of the feet
HP:0010098 Complete duplication of the 1st metatarsal
HP:0030770 Craniorachischisis
HP:0012175 Resistance to activated protein C
HP:0009762 Facial wrinkling
HP:0010961 Intralobar sequestration
HP:0003890 Prominent deltoid tuberosities
HP:0001107 Ocular albinism
HP:0005979 Metabolic ketoacidosis
HP:0005513 Increased megakaryocyte count
HP:0005186 Synovial hypertrophy
HP:0001931 Hypochromic anemia
HP:0030473 Abnormal light-adapted flicker electroretinogram
HP:0025088 Onychomadesis
HP:0100250 Meningeal calcification
HP:0011165 Visual auras
HP:0011221 Vertical forehead creases
HP:0009441 Bullet-shaped phalanges of the 3rd finger
HP:0012257 Absent inner dynein arms
HP:0006201 Hypermobility of distal interphalangeal joints
HP:0010485 Hyperextensibility at elbow
HP:0009301 Short proximal phalanx of the 4th finger
HP:0005411 Chronic intestinal candidiasis
HP:0000153 Abnormality of the mouth
HP:0000649 Abnormality of visual evoked potentials
HP:0002174 Postural tremor
HP:0010648 Dermal translucency
HP:0001682 Subaortic stenosis
HP:0011119 Abnormality of the nasal dorsum
HP:0030820 Hooded eyelid
HP:0011630 Complete diaphragmatic absence of pericardium
HP:0003086 Acromesomelia
HP:0005852 Limited elbow extension and supination
HP:0030552 Visual acuity light perception without projection
HP:0006333 Crowded maxillary incisors
HP:0008573 Low-frequency sensorineural hearing impairment
HP:3000033 Abnormality of nasopharyngeal adenoids
HP:0100748 Muscular edema
HP:0004626 Lumbar scoliosis
HP:0001317 Abnormality of the cerebellum
HP:0008952 Shoulder muscle hypoplasia
HP:0009695 Stippling of thumb epiphysis
HP:0000853 Goiter
HP:0005320 Lack of facial subcutaneous fat
HP:0006207 Partial fusion of carpals
HP:0012345 Abnormal glycosylation
HP:0010609 Skin tags
HP:0009519 Ivory epiphysis of the middle phalanx of the 2nd finger
HP:0100665 Angioedema
HP:0003115 Abnormal EKG
HP:0040137 Comodogenic acne
HP:0005025 Hypoplastic distal humeri
HP:0006649 Costochondral pain
HP:0002107 Pneumothorax
HP:0003730 EMG: myotonic runs
HP:0007456 Progressive reticulate hyperpigmentation
HP:0004660 Hypoplasia of facial musculature
HP:0003521 Disproportionate short-trunk short stature
HP:0009007 Hypoplastic biceps
HP:0010708 1-5 finger syndactyly
HP:0011720 Cardiac total anomalous pulmonary venous connection
HP:0030442 Anal margin squamous cell carcinoma
HP:0010364 Patchy sclerosis of 3rd toe phalanx
HP:0008664 Urethral sphincter sclerosis
HP:0030032 Partial absence of foot
HP:0002593 Intestinal lymphangiectasia
HP:0001735 Acute pancreatitis
HP:0010120 Pseudoepiphyses of the hallux
HP:0002257 Chronic rhinitis
HP:0004691 2-3 toe syndactyly
HP:0012577 Thin glomerular basement membrane
HP:0008438 Vertebral arch anomaly
HP:0002545 Patchy demyelination of subcortical white matter
HP:0009774 Triangular shaped phalanges of the hand
HP:0002059 Cerebral atrophy
HP:0000049 Shawl scrotum
HP:0410012 Abnormality of the mouth floor
HP:0010931 Abnormality of sodium homeostasis
HP:0000907 Anterior rib cupping
HP:0007889 Iridescent posterior subcapsular cataract
HP:0030056 Uncombable hair
HP:0011946 Bronchiolitis obliterans
HP:0000723 Restrictive behavior
HP:0002714 Downturned corners of mouth
HP:0045028 Type III lissencephaly
HP:0011533 Snowflake vitreoretinal degeneration
HP:0008804 Broad femoral head
HP:0001373 Joint dislocation
HP:0004359 Abnormality of fatty-acid metabolism
HP:0030857 Eye movement-induced pain
HP:0006205 Irregular phalanges
HP:0012101 Decreased serum creatinine
HP:0002788 Recurrent upper respiratory tract infections
HP:0004434 C8 deficiency
HP:0012615 Cylindruria
HP:0001871 Abnormality of blood and blood-forming tissues
HP:0004963 Calcification of the aorta
HP:0002459 Dysautonomia
HP:0004897 Stress/infection-induced lactic acidosis
HP:0002277 Horner syndrome
HP:0002099 Asthma
HP:0030763 Amniotic Sheet
HP:0000772 Abnormality of the ribs
HP:0010391 Duplication of the phalanges of the 5th toe
HP:0100443 Curved middle phalanx of the 3rd toe
HP:0012173 Orthostatic tachycardia
HP:0000089 Renal hypoplasia
HP:0011902 Abnormal hemoglobin
HP:0012891 High posterior hairline
HP:0030234 Highly elevated creatine phosphokinase
HP:0005853 Congenital foot contraction deformities
HP:0012119 Methemoglobinemia
HP:0004243 Abnormality of the scaphoid
HP:0009944 Partial duplication of thumb phalanx
HP:0000805 Enuresis
HP:0010550 Paraplegia
HP:0008049 Abnormality of the extraocular muscles
HP:0012478 Temporomandibular joint ankylosis
HP:0006097 3-4 finger syndactyly
HP:0005518 Increased mean corpuscular volume
HP:0005474 Decreased calvarial ossification
HP:0030551 Visual acuity light perception with projection
HP:0003353 Propionyl-CoA carboxylase deficiency
HP:0012418 Hypoxemia
HP:0005752 Flattened moderately deformed vertebrae
HP:0100470 Symphalangism affecting the middle phalanx of the 3rd toe
HP:0040115 Abnormality of the Eustachian tube
HP:0009088 Speech articulation difficulties
HP:0003011 Abnormality of the musculature
HP:0030923 5-minute APGAR score of 3
HP:0005878 Enlarged sagittal diameter of the cervical canal
HP:0000359 Abnormality of the inner ear
HP:0008222 Female infertility
HP:0010038 Short 2nd metacarpal
HP:0010733 Naevus flammeus of the eyelid
HP:0008373 Puberty and gonadal disorders
HP:0004915 Impairment of galactose metabolism
HP:0030864 Intercostal retractions
HP:0006060 Tombstone-shaped proximal phalanges
HP:0025117 Rete ridge flattening
HP:0011292 EEG with occipital sharp waves
HP:0200054 Foot monodactyly
HP:0000026 Male hypogonadism
HP:0006118 Shortening of all distal phalanges of the fingers
HP:0010717 Osseous syndactyly of toes
HP:0011568 Double orifice mitral valve
HP:0009440 Broad phalanges of the 3rd finger
HP:0000155 Oral ulcer
HP:0010959 Congenital cystic adenomatoid malformation of the lung
HP:0006711 Aplasia/Hypoplasia involving bones of the thorax
HP:0011167 Focal tonic seizures
HP:0011552 Ambiguous atrioventricular connection
HP:0009506 Fragmentation of the epiphysis of the distal phalanx of the 2nd finger
HP:0012244 Abnormal sex determination
HP:0011656 Double outlet right ventricle with subaortic ventricular septal defect without pulmonary stenosis
HP:0011490 Abnormality of Descemet's membrane
HP:0004405 Prominent nipples
HP:0001266 Choreoathetosis
HP:0010379 Duplication of phalanx of the 4th toe
HP:0003126 Low-molecular-weight proteinuria
HP:0007470 Periarticular subcutaneous nodules
HP:0002229 Alopecia areata
HP:0007642 Congenital stationary night blindness
HP:0045084 Limb myoclonus
HP:0006886 Impaired distal vibration sensation
HP:0030253 Defective T cell proliferation
HP:0007554 Confetti hypopigmentation pattern of lower leg skin
HP:0040104 Osseous stenosis of the external auditory canal
HP:0006477 Abnormality of the alveolar ridges
HP:3000075 Abnormality of lingual nerve
HP:0004389 Intestinal pseudo-obstruction
HP:0011506 Choroidal neovascularization of the macula
HP:0002522 Areflexia of lower limbs
HP:0011442 Abnormality of central motor function
HP:0009646 Patchy sclerosis of the distal phalanx of the thumb
HP:0004050 Absent hand
HP:0004275 Duplication of hand bones
HP:0007068 Inferior vermis hypoplasia
HP:0007373 Motor neuron atrophy
HP:0009982 Partial duplication of the middle phalanx of the 4th finger
HP:0030034 Diffuse glomerular basement membrane lamellation
HP:0011340 Incomplete cleft of the upper lip
HP:0011293 EEG with central sharp waves
HP:0004756 Ventricular tachycardia
HP:0000845 Growth hormone excess
HP:0006143 Abnormal finger flexion creases
HP:0012353 Decreased fucosylation of N-linked protein glycosylation
HP:0009170 Osteolytic defects of the middle phalanx of the 5th finger
HP:0009599 Abnormality of thumb epiphysis
HP:0001371 Flexion contracture
HP:0012718 Morphological abnormality of the gastrointestinal tract
HP:0100603 Toxemia of pregnancy
HP:0000033 Ambiguous genitalia, male
HP:0011351 Moderate receptive language delay
HP:0002972 Reduced delayed hypersensitivity
HP:0006887 Intellectual disability, progressive
HP:0006789 Mitochondrial encephalopathy
HP:0003959 Deformed forearm bones
HP:0009166 Fragmentation of the epiphysis of the distal phalanx of the 5th finger
HP:0008491 Premature anterior fontanel closure
HP:0008625 Severe sensorineural hearing impairment
HP:0100451 Curved distal phalanx of the 5th toe
HP:0040086 Abnormal prolactin level
HP:0040196 Mild microcephaly
HP:0005564 Absence of renal corticomedullary differentiation
HP:0000492 Abnormality of the eyelid
HP:0004885 Episodic respiratory distress
HP:0005215 Frequent Giardia lamblia infestation
HP:0010672 Abnormality of the third metatarsal bone
HP:0010677 Enuresis nocturna
HP:0000966 Hypohidrosis
HP:0025096 Paroxysmal sneezing
HP:0011959 Unilateral hypoplasia of pectoralis major muscle
HP:0010276 Small epiphyses of the proximal phalanges of the hand
HP:0011372 Aplasia of the inner ear
HP:0003835 Shoulder subluxation
HP:0006803 Vivid hallucinations
HP:0030608 Increased OCT-measured macular thickness
HP:0011098 Speech apraxia
HP:0008003 Jerky ocular pursuit movements
HP:0006136 Bilateral postaxial polydactyly
HP:0003470 Paralysis
HP:0010323 Abnormality of the epiphyses of the 2nd toe
HP:0002845 Increased number of peripheral CD3+ T cells
HP:0030456 Abnormality of pattern onset/offset visual evoked potentials
HP:0002604 Gastrointestinal telangiectasia
HP:0100411 Complete duplication of the middle phalanx of the 4th toe
HP:0008808 High iliac wings
HP:0009342 Pseudoepiphysis of the distal phalanx of the 3rd finger
HP:0009386 Fragmentation of the epiphyses of the 5th finger
HP:0002390 Spinal arteriovenous malformation
HP:0009875 Triangular shaped distal phalanges of the hand
HP:0000219 Thin upper lip vermilion
HP:0030568 Best corrected visual acuity 3.0 LogMAR
HP:0009467 Radial deviation of the 2nd finger
HP:0009427 Triangular shaped distal phalanx of the 3rd finger
HP:0100598 Pulmonary edema
HP:0005593 Macular hypopigmented whorls, streaks, and patches
HP:0000625 Cleft eyelid
HP:0012802 Broad jaw
HP:0025089 Feculent vomiting
HP:0002909 Generalized aminoaciduria
HP:0011973 Paroxysmal lethargy
HP:0006655 Rib segmentation abnormalities
HP:0007204 Diffuse white matter abnormalities
HP:0003529 Parathormone-independent increased renal tubular calcium reabsorption
HP:0040055 Short lower eyelashes
HP:0030227 Accumulation of muscle fiber myotilin
HP:0030632 Hypoautofluorescent macular lesion
HP:0003089 Hamstring contractures
HP:0009110 Diaphragmatic eventration
HP:0011700 Automatic atrial tachycardia
HP:0100512 Vitamin D deficiency
HP:0000769 Abnormality of the breast
HP:0009804 Reduced number of teeth
HP:0030860 Abnormal CSF amyloid level
HP:0007513 Generalized hypopigmentation
HP:0009222 Small epiphysis of the middle phalanx of the 4th finger
HP:0009263 Cone-shaped epiphysis of the proximal phalanx of the 4th finger
HP:0011979 Elevated urinary dopamine
HP:0010293 Aplasia/Hypoplasia of the uvula
HP:0030090 Abnormal muscle fiber merosin expression
HP:0030367 Finger hyperphalangy
HP:0009969 Partial duplication of the middle phalanx of the 3rd finger
HP:0002763 Abnormal cartilage morphology
HP:3000072 Abnormality of levator palpebrae superioris
HP:0009120 Aplasia/Hypoplasia involving the sinuses
HP:0011527 Lentiglobus
HP:0003886 Wide humerus
HP:0025027 Osteoma cutis
HP:0012787 Recurrent pyelonephritis
HP:0100706 Abnormality of the oligodendroglia
HP:0002755 Osteomyelitis due to immunodeficiency
HP:0011325 Pansynostosis
HP:0009853 Bullet-shaped proximal phalanges of the hand
HP:0011197 EEG with focal spike waves
HP:0012901 Myotonia of the jaw
HP:0040113 Old-aged sensorineural hearing impairment
HP:0003737 Mitochondrial myopathy
HP:0010316 Ebstein's anomaly of the tricuspid valve
HP:0011139 Gastric duplication
HP:0005905 Abnormal cervical curvature
HP:0002579 Gastrointestinal dysmotility
HP:0003109 Hyperphosphaturia
HP:0005010 Osteomyelitis leading to amputation due to slow healing fractures
HP:0410006 Abnormality of ophthalmic artery
HP:0002463 Language impairment
HP:0007457 Prominent veins on trunk
HP:0010147 Stippling of the epiphysis of the distal phalanx of the hallux
HP:0030657 Umbilical cord hematoma
HP:0002253 Colonic diverticula
HP:0002588 Duodenal ulcer
HP:0007688 Undetectable light- and dark-adapted electroretinogram
HP:0005230 Biliary tract obstruction
HP:0010111 Short phalanx of hallux
HP:0011029 Internal hemorrhage
HP:0040180 Hyperkeratosis pilaris
HP:0000883 Thin ribs
HP:0009601 Aplasia/Hypoplasia of the thumb
HP:0025142 Constitutional symptom
HP:0003752 Episodic flaccid weakness
HP:0002231 Sparse body hair
HP:0008796 Externally rotated hips
HP:0010262 Irregular epiphyses of the middle phalanges of the hand
HP:0003083 Dislocated radial head
HP:0008504 Moderate sensorineural hearing impairment
HP:0100465 Patchy sclerosis of the proximal phalanx of the 4th toe
HP:0008798 Widened sacrosciatic notch
HP:0002020 Gastroesophageal reflux
HP:0001194 Abnormalities of placenta or umbilical cord
HP:0005592 Giant melanosomes in melanocytes
HP:0011594 Right aortic arch with retroesophageal diverticulum of Kommerell
HP:0002236 Frontal upsweep of hair
HP:0012529 Abnormal dense granule content
HP:0011849 Abnormal bone ossification
HP:0012296 Slender distal phalanx of finger
HP:0003466 Paradoxical increased cortisol secretion on dexamethasone suppression test
HP:0006888 Meningoencephalocele
HP:0000884 Prominent sternum
HP:0010063 Patchy sclerosis of hallux phalanx
HP:0009676 Bracket epiphysis of the distal phalanx of the thumb
HP:0000375 Abnormality of cochlea
HP:0003388 Easy fatigability
HP:0005916 Abnormal metacarpal morphology
HP:0011036 Abnormality of renal excretion
HP:0001659 Aortic regurgitation
HP:0009517 Fragmentation of the epiphysis of the middle phalanx of the 2nd finger
HP:0002208 Coarse hair
HP:0100857 Flat sella turcica
HP:0004575 Fusion of midcervical facet joints
HP:0100821 Urethrocele
HP:0005872 Brachytelomesophalangy
HP:0030364 Secondary Caesarian section
HP:0030833 Neck pain
HP:0004471 Aplasia cutis congenita over the scalp vertex
HP:0001683 Ectopia cordis
HP:0005366 Recurrent streptococcus pneumoniae infections
HP:0003640 Foam cells in visceral organs and CNS
HP:0001155 Abnormality of the hand
HP:0040247 Reduced euglobulin clot lysis time
HP:0012093 Abnormality of endocrine pancreas physiology
HP:0030091 Absent muscle fiber merosin
HP:0100368 Short phalanx of the 5th toe
HP:0030644 Blind-spot enlargment
HP:0012377 Hemianopia
HP:0000074 Ureteropelvic junction obstruction
HP:0010459 True hermaphroditism
HP:0002305 Athetosis
HP:0100181 Bracket epiphysis of the middle phalanx of the 4th toe
HP:0010023 Small epiphysis of the 1st metacarpal
HP:0040087 Abnormality of folate in blood
HP:0030039 Fused thoracic vertebrae
HP:0009710 Chilblain lesions
HP:0001798 Anonychia
HP:0009692 Ivory epiphysis of the thumb
HP:0011002 Osteopetrosis
HP:0030094 Reduced muscle fiber laminin beta 1
HP:0006144 Shortening of all proximal phalanges of the fingers
HP:0005132 Pericardial constriction
HP:0030349 Decreased circulating androgen level
HP:0009463 Ulnar deviation of the 3rd finger
HP:0040234 Factor XIII subunit B deficiency
HP:0002181 Cerebral edema
HP:0010309 Bifid sternum
HP:0004254 Delayed ossification of the trapezium
HP:0003319 Abnormality of the cervical spine
HP:0011682 Perimembranous ventricular septal defect
HP:0011901 Dysfibrinogenemia
HP:0012045 Retinal flecks
HP:0012405 Hypocitraturia
HP:0012699 Anomaly of lower limb diaphyses
HP:0011336 Bitemporal forceps marks
HP:0011934 Mesenteric artery aneurysm
HP:0008354 Factor X activation deficiency
HP:0100681 Esophageal duplication
HP:0040084 Abnormal circulating renin
HP:0030123 Abnormal muscle fiber lamin A/C
HP:0002071 Abnormality of extrapyramidal motor function
HP:0003902 Epiphyseal stippling of the humerus
HP:0100963 Hyperesthesia
HP:0100131 Stippling of the epiphysis of the proximal phalanx of the 2nd toe
HP:0003307 Hyperlordosis
HP:0008826 Dislocation of the femoral head
HP:0005692 Joint hyperflexibility
HP:0006916 Intraaxonal accumulation of curvilinear autofluorescent lipopigment storage material
HP:0004690 Thickened Achilles tendon
HP:0006892 Frontotemporal cerebral atrophy
HP:0001008 Accumulation of melanosomes in melanocytes
HP:0011358 Generalized hypopigmentation of hair
HP:0006162 Soft tissue swelling of interphalangeal joints
HP:0011500 Polycoria
HP:0009328 Pseudoepiphysis of the middle phalanx of the 3rd finger
HP:0012479 Temporomandibular joint crepitus
HP:0003434 Sensory ataxic neuropathy
HP:0007759 Opacification of the corneal stroma
HP:0030581 Pinhole visual acuity 1.3 LogMAR
HP:0004954 Descending aortic aneurysm
HP:0100932 Sclerosis of the proximal phalanx of the 3rd toe
HP:0012873 Absent vas deferens
HP:0009085 Alveolar ridge overgrowth
HP:3000078 Abnormality of mandible coronoid process
HP:0009551 Patchy sclerosis of 2nd finger phalanx
HP:0003889 Abnormality of the deltoid tuberosities
HP:0007573 Late onset atopic dermatitis
HP:0030816 Gingival recession
HP:0000020 Urinary incontinence
HP:0001862 Acral ulceration and osteomyelitis leading to autoamputation of the digits (feet)
HP:0007862 Retinal calcification
HP:0002160 Hyperhomocystinemia
HP:0009763 Limb pain
HP:0030194 Fatigable weakness of speech muscles
HP:0009161 Aplasia/Hypoplasia of the middle phalanx of the 5th finger
HP:0009305 Distal/middle symphalangism of 4th finger
HP:0040134 Abnormal hepatic iron concentration
HP:0012670 Orthostatic syncope
HP:0009019 Progressive loss of facial adipose tissue
HP:0001883 Talipes
HP:0030803 Platonychia
HP:0011297 Abnormality of digit
HP:0007302 Bipolar affective disorder
HP:0002268 Paroxysmal dystonia
HP:0007685 Peripheral retinal avascularization
HP:0009484 Deviation of the hand or of fingers of the hand
HP:0000457 Depressed nasal ridge
HP:0100813 Testicular torsion
HP:0007546 Linear hyperpigmentation
HP:0005329 Fixed facial expression
HP:0002627 Right aortic arch with mirror image branching
HP:0012166 Skin-picking
HP:0000786 Primary amenorrhea
HP:0002986 Radial bowing
HP:0030655 Umbilical cord knot
HP:0005441 Sclerotic cranial sutures
HP:0005134 Absence of the pulmonary valve
HP:0004535 Anterior cervical hypertrichosis
HP:0004931 Arteriosclerosis of small cerebral arteries
HP:0009284 Abnormality of the proximal phalanx of the 4th finger
HP:0100338 Non-midline cleft palate
HP:0002922 Increased CSF protein
HP:0011596 Left aortic arch with right descending aorta and right ductus arteriosus
HP:0009626 Contractures of the interphalangeal joint of the thumb
HP:0001080 Biliary tract abnormality
HP:0030170 Cystic artery pseudoaneurysm
HP:0000531 Corneal crystals
HP:0012876 Premature ejaculation
HP:0012691 Focal T2 hypointense thalamic lesion
HP:0008596 Postlingual sensorineural hearing impairment
HP:0003034 Diaphyseal sclerosis
HP:0007295 Chaotic rapid conjugate ocular movements
HP:0002282 Heterotopia
HP:0005318 Cerebral vasculitis
HP:0002637 Cerebral ischemia
HP:0000365 Hearing impairment
HP:0012172 Stereotypical body rocking
HP:0005864 Pseudoarthrosis
HP:0030852 High pulse pressure
HP:0012330 Pyelonephritis
HP:0007334 Generalized tonic-clonic seizures with focal onset
HP:0009650 Short distal phalanx of the thumb
HP:0007731 Chorioretinal dysplasia
HP:0005682 Talocalcaneal synostosis
HP:0010203 Aplasia/hypoplasia of proximal toe phalanx
HP:0100183 Enlarged epiphysis of the middle phalanx of the 4th toe
HP:0003469 Peripheral dysmyelination
HP:0100229 Irregular epiphysis of the proximal phalanx of the 5th toe
HP:0005997 Restricted neck movement due to contractures
HP:0030346 Abnormal circulating follicle-stimulating hormone level
HP:3000010 Abnormality of orbicularis oris muscle
HP:0009930 Asymmetry of the nares
HP:0006563 Malformation of the hepatic ductal plate
HP:0001580 Pigmented micronodular adrenocortical disease
HP:0003150 Glutaric aciduria
HP:0009352 Ivory epiphysis of the proximal phalanx of the 3rd finger
HP:0009939 Mandibular aplasia
HP:0006818 Type I lissencephaly
HP:0005643 Short 3rd toe
HP:0001289 Confusion
HP:0012509 Reduced thyroxin-binding globulin
HP:0009478 Symphalangism of the proximal phalanx of the 4th finger with the 4th metatcarpal
HP:0012424 Chorioretinitis
HP:0011208 EEG with generalized slow activity grade 3
HP:0010334 Polydactyly affecting the 3rd toe
HP:0008095 Osteolysis of talus
HP:0008383 Slow-growing nails
HP:0012248 Prolonged PR interval
HP:0008723 Gonadal dysgenesis with female appearance, male
HP:0030689 Decreased glucagon level
HP:0007766 Optic disc hypoplasia
HP:0007058 Generalized cerebral atrophy/hypoplasia
HP:0003641 Hemoglobinuria
HP:0010862 Delayed fine motor development
HP:0009123 Mixed hypo- and hyperpigmentation of the skin
HP:0007394 Prominent superficial blood vessels
HP:0009705 Synostosis involving the 2nd metacarpal
HP:0009546 Triangular shaped phalanges of the 2nd finger
HP:0009691 Irregular thumb epiphysis
HP:0100269 Paramedian lip pit
HP:0009344 Stippling of the epiphysis of the distal phalanx of the 3rd finger
HP:0025180 Centrilobular ground-glass opacification
HP:0009857 Symphalangism affecting the proximal phalanges of the hand
HP:0030030 Absent ray
HP:0010115 Cone-shaped epiphyses of the hallux
HP:0011689 Supraventricular tachycardia with a concealed accessory connection
HP:0030514 Difficulty adjusting from dark to light
HP:0006533 Bronchodysplasia
HP:0030269 Increased serum insulin-like growth factor 1 {comment="HPO:probinson"}
HP:0003449 Cold-induced muscle cramps
HP:0045082 Decreased body mass index
HP:0003897 Irregular ossification of the humeral epiphyses
HP:0030733 Vesicoallantoic abdominal wall defect
HP:0410015 Abnormality of ganglion of peripheral nervous system
HP:0030444 Anal margin melanoma
HP:0010646 Cervical spine instability
HP:0003247 Overgrowth of external genitalia
HP:0012205 Globozoospermia
HP:0006008 Unilateral brachydactyly
HP:0009895 Abnormality of the crus of the helix
HP:0025135 Abnormal serum estriol
HP:0010776 Tracheobronchmegaly
HP:0002321 Vertigo
HP:0025321 Copper accumulation in liver
HP:0008001 Foveal hyperpigmentation
HP:0000263 Oxycephaly
HP:0000008 Abnormality of female internal genitalia
HP:0030812 Enlarged tonsils
HP:0009963 Duplication of the middle phalanx of the 3rd finger
HP:0000293 Full cheeks
HP:0012157 Subcortical cerebral atrophy
HP:0100924 Sclerosis of toe phalanx
HP:0012135 Abnormality of cells of the granulocytic lineage
HP:0008516 Abnormality of the vertebral spinous processes
HP:0001718 Mitral stenosis
HP:0045016 Elevated serum long-chain fatty acids
HP:0012332 Abnormal autonomic nervous system physiology
HP:0040251 Hand dimples
HP:0100461 Patchy sclerosis of the middle phalanx of the 3rd toe
HP:0008714 Ureterovesical stenosis
HP:0007308 Extrapyramidal dyskinesia
HP:0040269 Blocked Eustachian tube
HP:0004860 Thiamine-responsive megaloblastic anemia
HP:0001960 Hypokalemic metabolic alkalosis
HP:0011516 Achromatopsia
HP:0010157 Small epiphysis of the 1st metatarsal
HP:0001929 Reduced factor XI activity
HP:0100085 Small epiphyses of the 5th toe
HP:0025073 Exercise-induced U wave inversion
HP:0009101 Submucous cleft lip
HP:0040018 Clinodactyly of hallux
HP:0002204 Pulmonary embolism
HP:0012356 Decreased mannosylation of N-linked protein glycosylation
HP:0009509 Pseudoepiphysis of the distal phalanx of the 2nd finger
HP:0030537 Unaided visual acuity 0.2 LogMAR
HP:0008043 Retinal arteriolar constriction
HP:0009461 Short 3rd finger
HP:0010252 Ivory epiphyses of the distal phalanges of the hand
HP:0006960 Choroid plexus calcification
HP:0005066 Cone-shaped epiphyses fused within their metaphyses
HP:0002148 Hypophosphatemia
HP:0005250 High intestinal obstruction
HP:0025263 Stiff knee
HP:0030751 Grade IV preterm intraventricular hemorrhage
HP:0010660 Abnormal hand bone ossification
HP:0012695 Decreased thalamic volume
HP:0004387 Enterocolitis
HP:0025025 Rectovestibular fistula
HP:0012800 Accessory cranial suture
HP:0430004 Frontomalar faciosynostosis
HP:0003979 Lytic defects of the radius
HP:0001218 Autoamputation
HP:0008465 Absent vertebrae
HP:0002574 Episodic abdominal pain
HP:0012795 Abnormality of the optic disc
HP:0100014 Epiretinal membrane
HP:0100625 Enlarged thorax
HP:0000704 Periodontitis
HP:0006370 Distal ulnar epiphyseal stippling
HP:0011705 First degree atrioventricular block
HP:0100187 Pseudoepiphysis of the middle phalanx of the 4th toe
HP:0011522 Protanopia
HP:0003750 Increased muscle fatiguability
HP:0100774 Hyperostosis
HP:0011247 Prominent superior crus of antihelix
HP:0001651 Dextrocardia
HP:0010924 Posterior cortical cataract
HP:0030885 Recurrent parasitic infections
HP:0006159 Mesoaxial hand polydactyly
HP:0009680 Irregular epiphysis of the distal phalanx of the thumb
HP:0012790 Abnormal intramembranous ossification
HP:0002068 Neuromuscular dysphagia
HP:0003643 Sulfite oxidase deficiency
HP:0006589 Flaring of lower rib cage
HP:0100090 Abnormality of the epiphysis of the proximal phalanx of the 2nd toe
HP:0012160 Intracranial internal carotid artery dissection
HP:0004097 Deviation of finger
HP:0001879 Abnormality of eosinophils
HP:0001884 Talipes calcaneovalgus
HP:0100501 Recurrent bronchiolitis
HP:0001051 Seborrheic dermatitis
HP:0002088 Abnormality of lung morphology
HP:0000042 Absent external genitalia
HP:0100725 Lichenification
HP:0040169 Loose anagen hair
HP:0012219 Erythema nodosum
HP:0010456 Abnormality of the greater sacrosciatic notch
HP:0009666 Cone-shaped epiphysis of the proximal phalanx of the thumb
HP:0030294 Metaphyseal chondromatosis of tibia
HP:0012751 Abnormal basal ganglia MRI signal intensity
HP:0007365 Aplasia/Hypoplasia involving the corticospinal tracts
HP:0006251 Limited wrist extension
HP:0010856 EEG with periodic complexes
HP:0009200 Pseudoepiphysis of the proximal phalanx of the 5th finger
HP:0001838 Rocker bottom foot
HP:0001859 Distal foot symphalangism
HP:0012652 Exercise-induced asthma
HP:0011933 Elongated superior cerebellar peduncle
HP:0100375 Aplasia/hypoplasia of the proximal phalanx of the 3rd toe
HP:0001538 Protuberant abdomen
HP:0005556 Abnormality of the metopic suture
HP:0005627 Type D brachydactyly
HP:0025164 Increased number of elastic fibers in the dermis
HP:0011812 Agraphesthesia
HP:0100445 Curved middle phalanx of the 5th toe
HP:0007488 Diffuse skin atrophy
HP:0010161 Abnormality of the phalanges of the toes
HP:0003287 Abnormality of mitochondrial metabolism
HP:0012287 Hypothalamic luteinizing hormone-releasing hormone deficiency
HP:0003946 Abnormality of the epiphyses of the elbow
HP:0002928 Decreased activity of the pyruvate dehydrogenase complex
HP:0100225 Bracket epiphysis of the proximal phalanx of the 5th toe
HP:0007936 Restrictive external ophthalmoplegia
HP:0010606 Hordeolum
HP:0200037 Skin vesicle
HP:0008365 Abnormality of the talus
HP:0001974 Leukocytosis
HP:0010109 Short hallux
HP:0007188 Congenital facial diplegia
HP:0008606 Supraauricular pit
HP:0045034 Elevated urinary aminoisobutyric acid
HP:0005043 Proximal humeral metaphyseal irregularity
HP:0007911 Congenital bilateral ptosis
HP:0012761 Absent mastoid
HP:0030707 Unilateral lung agenesis
HP:0025021 Abnormal erythrocyte sedimentation rate
HP:0011085 Hypomature dental enamel
HP:0011553 Discordant atrioventricular connection
HP:0430008 Accessory eyelid
HP:0002217 Slow-growing hair
HP:0004979 Metaphyseal sclerosis
HP:0010875 Chaddock reflex
HP:0011875 Abnormal platelet morphology
HP:0011804 Abnormality of muscle physiology
HP:0007047 Atrophy of the dentate nucleus
HP:0005746 Osteosclerosis of the base of the skull
HP:0011805 Abnormality of muscle morphology
HP:0000072 Hydroureter
HP:0008045 Enlarged flash visual evoked potentials
HP:0000244 Brachyturricephaly
HP:0011060 Dentinogenesis imperfecta limited to primary teeth
HP:0006283 Multiple unerupted teeth
HP:0030577 Pinhole visual acuity 0.9 LogMAR
HP:0011022 Abnormality of unsaturated fatty acid metabolism
HP:0200095 Anterior open bite
HP:0030279 Hypoplastic L5 vertebral pedicle
HP:0010215 Contractures of the metatarsophalangeal joint of the hallux
HP:0000349 Widow's peak
HP:0010946 Dilatation of the renal pelvis
HP:0030326 Abnormal macrophage count
HP:0001262 Excessive daytime somnolence
HP:0100095 Abnormality of the epiphysis of the middle phalanx of the 4th toe
HP:0005875 Increased dermatoglyphic whorls
HP:0008348 Immunoglobulin IgG2 deficiency
HP:0010804 Tented upper lip vermilion
HP:0006371 Broad long bone diaphyses
HP:0000212 Gingival overgrowth
HP:0008245 Pituitary hypothyroidism
HP:0009408 Aplasia/Hypoplasia of the phalanges of the 4th finger
HP:0025188 Retinal vasculitis
HP:0009471 Contracture of the proximal interphalangeal joint of the 3rd finger
HP:0012739 Agenesis of the small intestine
HP:0030192 Fatigable weakness of bulbar muscles
HP:0025026 H-type rectovestibular fistula
HP:0011466 Aplasia/Hypoplasia of the gallbladder
HP:0001169 Broad palm
HP:0030330 Multinucleated giant chondrocytes in epiphyseal cartilage
HP:0002460 Distal muscle weakness
HP:0000348 High forehead
HP:0008441 Herniation of intervertebral nuclei
HP:0100893 Prominent xiphoid process
HP:0006498 Aplasia/Hypoplasia of the patella
HP:0030142 Abnormal bowel sounds
HP:0008897 Postnatal growth retardation
HP:0008117 Shortening of the talar neck
HP:0030882 Coronary artery dilation
HP:0009833 Abnormality of the middle phalanges of the hand
HP:0011818 Nasofrontal encephalocele
HP:0045049 Abnormal DLCO
HP:0100871 Abnormality of the palm
HP:0009320 Abnormality of the epiphyses of the 3rd finger
HP:0030286 Atrophic superior cerebellar peduncle
HP:0007610 Blotching pigmentation of the skin
HP:0030122 Reduced muscle fiber perlecan
HP:0010533 Spasmus nutans
HP:0011004 Abnormality of the systemic arterial tree
HP:0011515 Abnormal stereopsis
HP:0004423 Cranium bifidum occultum
HP:0002707 Palate telangiectasia
HP:0007715 Weak extraocular muscles
HP:0006153 Disharmonious carpal bone
HP:0012350 Decreased sialylation of N-linked protein glycosylation
HP:0009304 Patchy sclerosis of the distal phalanx of the 4th finger
HP:0010328 Polydactyly affecting the 2nd toe
HP:0001688 Sinus bradycardia
HP:0045026 Abnormality of the mediastinum
HP:0011711 Left anterior fascicular block
HP:0003994 Dislocated wrist
HP:0003155 Elevated alkaline phosphatase
HP:0010319 Abnormality of the 2nd toe
HP:0011886 Hyphema
HP:0012156 Hemophagocytosis
HP:0012065 Multiple bony cystic lesions
HP:0005850 Congenital talipes calcaneovalgus
HP:0000178 Abnormality of lower lip
HP:0009554 Projection of scalp hair onto lateral cheek
HP:0010685 Low alkaline phosphatase of renal origin
HP:0003931 Periosteal new bone of humeral diaphysis
HP:0100944 Sclerosis of the distal phalanx of the hallux
HP:0000522 Alacrima
HP:0010287 Abnormality of the submandibular glands
HP:0100675 Vaginal pyocele
HP:0100340 Fibular deviation of the 4th toe
HP:0002730 Chronic noninfectious lymphadenopathy
HP:0005323 Hemifacial hypertrophy
HP:0100599 Bifid penis
HP:0008151 Prolonged prothrombin time
HP:0030460 Abnormal timing of pattern reversal visual evoked potentials
HP:0040172 Abnormality of occipitofrontalis muscle
HP:0100163 Ivory epiphysis of the proximal phalanx of the 3rd toe
HP:0002334 Abnormality of the cerebellar vermis
HP:0040243 Prolonged euglobulin clot lysis time
HP:0001583 Rotary nystagmus
HP:0007778 Posterior retinal neovascularization
HP:0000574 Thick eyebrow
HP:0025196 Increased total iron binding capacity
HP:0004112 Midline nasal groove
HP:0100101 Bracket epiphysis of the distal phalanx of the 2nd toe
HP:0007489 Diffuse telangiectasia
HP:0000954 Single transverse palmar crease
HP:0000240 Abnormality of skull size
HP:0005195 Polyarticular arthropathy
HP:0005787 Lumbar platyspondyly
HP:0002206 Pulmonary fibrosis
HP:3000062 Abnormality of internal carotid artery
HP:0001978 Extramedullary hematopoiesis
HP:0100288 EMG: myokymic discharges
HP:0010478 Abnormality of the urachus
HP:0009947 Duplication of the proximal phalanx of the 2nd finger
HP:0040157 Abnormal intermamillary distance
HP:0009262 Bracket epiphysis of the proximal phalanx of the 4th finger
HP:0100870 Plantar telangiectasia
HP:0011728 Elbow clonus
HP:0011489 Abnormal migration of corneal endothelium
HP:0004696 Talipes cavus equinovarus
HP:0010124 Abnormality of the epiphysis of the distal phalanx of the hallux
HP:0001881 Abnormality of leukocytes
HP:0100808 Gastric diverticulum
HP:0100508 Abnormality of vitamin metabolism
HP:0003495 GM2-ganglioside accumulation
HP:0040252 Abnormal size of the clitoris
HP:0009266 Irregular epiphysis of the proximal phalanx of the 4th finger
HP:0004619 Lumbar kyphoscoliosis
HP:0006564 Fluctuating hepatomegaly
HP:0001129 Large central visual field defect
HP:0009214 Absent epiphysis of the middle phalanx of the 4th finger
HP:0008363 Aplasia/Hypoplasia of the tarsal bones
HP:0012569 Delayed menarche
HP:0009838 Curved distal phalanges of the hand
HP:0002576 Intussusception
HP:0003971 Broad forearm bones
HP:0000887 Cupped ribs
HP:0009608 Complete duplication of proximal phalanx of the thumb
HP:0030567 Best corrected visual acuity 2.0 LogMAR
HP:0002012 Abnormality of the abdominal organs
HP:0011755 Ectopic posterior pituitary
HP:0012719 Functional abnormality of the gastrointestinal tract
HP:0030670 Hamartoma of the orbital region
HP:0010597 Abnormality of the distal radial epiphysis
HP:0030862 Elevated CSF amyloid level
HP:0011878 Abnormal platelet membrane protein expression
HP:0001897 Normocytic anemia
HP:0025369 Thick growth plates
HP:0009003 Increased subcutaneous truncal adipose tissue
HP:0011872 Impaired thrombin-induced platelet aggregation
HP:0002944 Thoracolumbar scoliosis
HP:0011710 Bundle branch block
HP:0004532 Sacral hypertrichosis
HP:0012501 Abnormality of the brainstem white matter
HP:0009832 Abnormality of the distal phalanx of finger
HP:0100290 Abnormality of peripheral somatosensory evoked potentials
HP:0000812 Abnormal internal genitalia
HP:0012385 Camptodactyly
HP:0003513 Reduced ratio of renal calcium clearance to creatinine clearance
HP:0006379 Proximal tibial hypoplasia
HP:0012568 Lower eyelid edema
HP:0007384 Aberrant melanosome maturation
HP:0025363 Endocapillary hypercellularity
HP:0025058 Hypothalamic atrophy
HP:0008577 Underfolded helix
HP:0004431 Complement deficiency
HP:0012402 Increased urine alpha-ketoglutarate concentration
HP:0010865 Oppositional defiant disorder
HP:0100386 Aplasia of the proximal phalanx of the 5th toe
HP:0006042 Y-shaped metacarpals
HP:0011394 Hypoplasia of the vestibular nerve
HP:0100300 Desmin bodies
HP:0005182 Bicuspid pulmonary valve
HP:0010014 Abnormality of the epiphysis of the 1st metacarpal
HP:0012801 Narrow jaw
HP:0011031 Abnormality of iron homeostasis
HP:0025345 Abnormality of circulating beta-2-microglobulin level
HP:0005623 Absent ossification of calvaria
HP:0100746 Macrodactyly of finger
HP:0009951 Partial duplication of the distal phalanx of the 2nd finger
HP:0025349 Limbal edema
HP:0012512 Diffuse optic disc pallor
HP:0009186 Contracture of the metacarpophalangeal joint of the 5th finger
HP:0007841 Amyloid deposition in the vitreous humor
HP:0002949 Fused cervical vertebrae
HP:0012603 Abnormal urine sodium concentration
HP:0100373 Aplasia/Hypoplasia of the middle phalanx of the 4th toe
HP:0012874 Abnormal male reproductive system physiology
HP:0003079 Defective DNA repair after ultraviolet radiation damage
HP:0000040 Long penis
HP:0004727 Impaired renal concentrating ability
HP:0000399 Prelingual sensorineural hearing impairment
HP:0002878 Respiratory failure
HP:0008959 Distal upper limb muscle weakness
HP:0009570 Bullet-shaped middle phalanx of the 2nd finger
HP:0011097 Epileptic spasms
HP:0011749 Adrenocorticotropic hormone excess
HP:0025193 Posterolateral diaphragmatic hernia
HP:0008356 Combined hyperlipidemia
HP:0007570 Hyperkeratosis lenticularis perstans
HP:0100292 Amyloidosis of peripheral nerves
HP:0010463 Aplasia of the ovary
HP:0005387 Combined immunodeficiency
HP:0010881 Abnormality of the umbilical cord
HP:0011657 Double outlet right ventricle with subpulmonary ventricular septal defect and pulmonary stenosis
HP:0004746 Glomerular subendothelial electron-dense deposits
HP:0200020 Corneal erosion
HP:0011810 Impaired two-point discrimination
HP:0100283 EMG: continuous motor unit activity at rest
HP:0010356 Abnormality of the distal phalanx of the 2nd toe
HP:0005273 Absent nasal septal cartilage
HP:0030681 Abnormal morphology of myocardial trabeculae
HP:0007402 Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines
HP:0003755 Type 1 fibers relatively smaller than type 2 fibers
HP:0012703 Abnormality of the subarachnoid space
HP:0001566 Widely-spaced maxillary central incisors
HP:0005948 Cystic lung disease
HP:0030788 Impacted cerumen
HP:0006631 Hypoplastic distal segments of scapulae
HP:0012294 Abnormality of the occipital bone
HP:0001631 Atrial septal defect
HP:0001955 Unexplained fevers
HP:0006572 Subacute progressive viral hepatitis
HP:0010408 Osteolytic defects of the middle phalanx of the 2nd toe
HP:0030624 Subretinal hyporeflective spaces on macular OCT
HP:0009445 Symphalangism of the 3rd finger
HP:0100462 Patchy sclerosis of the middle phalanx of the 4th toe
HP:0004945 Extracranial internal carotid artery dissection
HP:0001441 Abnormality of the musculature of the thigh
HP:0000916 Broad clavicles
HP:0008722 Urethral diverticulum
HP:0006647 Congenital microthorax
HP:0002048 Renal cortical atrophy
HP:0002103 Abnormality of the pleura
HP:0006593 Anomalous rib insertion to vertebrae
HP:0010355 Duplication of the phalanges of the 2nd toe
HP:0012574 Mesangial hypercellularity
HP:0011871 Impaired ristocetin-induced platelet aggregation
HP:0025356 Pschomotor retardation
HP:0005758 Basilar impression
HP:0009050 Quadriceps muscle atrophy
HP:0001999 Abnormal facial shape
HP:0005067 Proximal fibular overgrowth
HP:0011250 Bifid antitragus
HP:0009100 Thick anterior alveolar ridges
HP:0010639 Elevated alkaline phosphatase of bone origin
HP:0030900 Pruritus on foot
HP:0010574 Abnormality of the epiphysis of the femoral head
HP:0002644 Abnormality of pelvic girdle bone morphology
HP:0005769 Fifth finger distal phalanx clinodactyly
HP:0010039 Aplasia/Hypoplasia of the 3rd metacarpal
HP:0100651 Type I diabetes mellitus
HP:0012492 Cerebral artery stenosis
HP:0030620 Inner retinal layer loss on macular OCT
HP:0200066 Ribbonlike corneal degeneration
HP:0000514 Slow saccadic eye movements
HP:0012236 Elevated sweat chloride
HP:0030396 Abnormal platelet granule secretion
HP:0012642 Cerebellar agenesis
HP:0002617 Aneurysm
HP:0002857 Genu valgum
HP:0000542 Impaired ocular adduction
HP:0025347 Decreased circulating beta-2-microglobulin level
HP:0045042 Decreased serum complement C4
HP:0002831 Long coccyx
HP:0010072 Patchy sclerosis of the 1st metatarsal
HP:0001325 Hypoglycemic coma
HP:0003473 Fatigable weakness
HP:0001407 Hepatic cysts
HP:0005243 Partial abdominal muscle agenesis
HP:0008967 Exercise-induced muscle stiffness
HP:0003530 Glutaric acidemia
HP:0009241 Bullet-shaped distal phalanx of the 5th finger
HP:0010226 Abnormality of the epiphysis of the 5th metacarpal
HP:0011472 Abnormality of small intestinal villus morphology
HP:0000749 Paroxysmal bursts of laughter
HP:0030458 Abnormal timing of pattern onset/offset visual evoked potentials
HP:0004005 Large radial epiphyses
HP:0009073 Progressive proximal muscle weakness
HP:0004277 Fractured hand bones
HP:0030126 Abnormality of the endometrium
HP:0005978 Type II diabetes mellitus
HP:0010944 Abnormality of the renal pelvis
HP:0010136 Stippling of the epiphysis of the proximal phalanx of the hallux
HP:0004251 Lunate-triquetral fusion
HP:0040083 Toe walking
HP:0030283 Partial absence of the septum pellucidum
HP:0002220 Melanin pigment aggregation in hair shafts
HP:0040139 Lipogranulomatosis
HP:0007963 Pattern dystrophy of the retina
HP:0025267 Snoring
HP:0005773 Short forearm
HP:0100165 Small epiphysis of the proximal phalanx of the 3rd toe
HP:0010227 Pseudoepiphysis of the 5th metacarpal
HP:0001972 Macrocytic anemia
HP:0040132 Abnormal sensory nerve conduction velocity
HP:0003009 Enhanced neurotoxicity of vincristine
HP:0012617 Erythrocyte cylindruria
HP:0005841 Calcific stippling of infantile cartilaginous skeleton
HP:0002021 Pyloric stenosis
HP:0008944 Distal lower limb amyotrophy
HP:0100488 Synostosis of the proximal phalanx of the hallux with the 1st metatarsal
HP:0002408 Cerebral arteriovenous malformation
HP:0009625 Contractures of the metacarpophalangeal joint of the thumb
HP:0030926 5-minute APGAR score of 6
HP:0012153 Hypotriglyceridemia
HP:0030159 Cervical polyp
HP:0012748 Focal T2 hyperintense brainstem lesion
HP:0003710 Exercise-induced muscle cramps
HP:0009997 Duplication of phalanx of hand
HP:0004861 Refractory macrocytic anemia
HP:0004051 Advanced ossification of the hand bones
HP:0009778 Short thumb
HP:0008305 Exercise-induced myoglobinuria
HP:0006479 Abnormality of the dental pulp
HP:0008770 Obsessive-compulsive trait
HP:0007543 Epidermal hyperkeratosis
HP:0011841 Ventricular flutter
HP:0100727 Histiocytosis
HP:0012403 Decreased urine alpha-ketoglutarate concentration
HP:0000200 Short lingual frenulum
HP:0011635 Partial diaphragmatic absence of pericardium
HP:0100122 Absent epiphysis of the proximal phalanx of the 2nd toe
HP:0040023 Clinodactyly of the thumb
HP:0011448 Ankle clonus
HP:0005918 Abnormality of phalanx of finger
HP:0030742 Glial remnants posterior to lens
HP:0010171 Epiphyseal stippling of toe phalanges
HP:0005111 Dilatation of the ascending aorta
HP:0012620 Cloacal abnormality
HP:0008551 Microtia
HP:0008555 Absent vestibular function
HP:0009890 High anterior hairline
HP:0100877 Renal diverticulum
HP:0100876 Infra-orbital crease
HP:0002207 Diffuse reticular or finely nodular infiltrations
HP:0010462 Aplasia/Hypoplasia of the ovary
HP:0007350 Hyperreflexia in upper limbs
HP:0007552 Abnormal subcutaneous fat tissue distribution
HP:0005597 Congenital alopecia totalis
HP:0000454 Flared nostrils
HP:0004796 Gastrointestinal obstruction
HP:0007440 Generalized hyperpigmentation
HP:0008012 Congenital myopia
HP:0002732 Lymph node hypoplasia
HP:0001152 Saccadic smooth pursuit
HP:0002427 Motor aphasia
HP:0010608 Hordeolum internum
HP:0007933 Broad lateral eyebrow
HP:0006439 Radioulnar dislocation
HP:0011470 Nasogastric tube feeding in infancy
HP:0003043 Abnormality of the shoulder
HP:0030876 Increased pulmonary capillary wedge pressure
HP:0006938 Impaired vibration sensation at ankles
HP:0005209 Intrahepatic bile duct cysts
HP:0009162 Absent middle phalanx of 5th finger
HP:0002562 Low-set nipples
HP:0030241 Hypoplasia of deltoid muscle
HP:0025074 Abnormal QRS complex
HP:0001609 Hoarse voice
HP:0004256 Abnormality of the trapezoid bone
HP:0008463 Central vertebral hypoplasia
HP:0000973 Cutis laxa
HP:0002373 Febrile seizures
HP:0004791 Esophageal ulceration
HP:0100231 Pseudoepiphysis of the proximal phalanx of the 5th toe
HP:0011503 Aplasia of the fovea
HP:0010385 Bullet-shaped 5th toe phalanx
HP:0011027 Abnormality of the fallopian tube
HP:0007690 Map-dot-fingerprint corneal dystrophy
HP:0001312 Giant somatosensory evoked potentials
HP:0008420 Punctate vertebral calcifications
HP:0010923 Anterior subcapsular cataract
HP:0030098 Reduced muscle dystrophin expression
HP:0007482 Generalized papillary lesions
HP:0003161 4-Hydroxyphenylpyruvic aciduria
HP:0010864 Intellectual disability, severe
HP:0001259 Coma
HP:0004007 Sclerotic radial epiphyses
HP:0002346 Head tremor
HP:0001403 Macrovesicular hepatic steatosis
HP:0005781 Contractures of the large joints
HP:0040200 Motor impersistence
HP:0009908 Anterior creases of earlobe
HP:0002754 Osteomyelitis
HP:0011612 Interrupted aortic arch type A
HP:0008344 Elevated plasma branched chain amino acids
HP:0006582 Reye syndrome-like episodes
HP:0004242 Broad carpal bones
HP:0007986 Increased retinal vascularity
HP:0008227 Pituitary resistance to thyroid hormone
HP:0003997 Hypoplastic radial head
HP:0003461 Increased urinary O-linked sialopeptides
HP:0000046 Scrotal hypoplasia
HP:0100767 Abnormality of the placenta
HP:0007502 Follicular hyperkeratosis
HP:0008127 Bipartite calcaneus
HP:0006710 Aplasia/Hypoplasia of the clavicles
HP:0040151 Epiblepharon of lower lid
HP:0000502 Abnormality of the conjunctiva
HP:0012379 Abnormal enzyme/coenzyme activity
HP:0010376 Patchy sclerosis of 4th toe phalanx
HP:0100504 Vitamin B2 deficiency
HP:0003359 Decreased urinary sulfate
HP:0007272 Progressive psychomotor deterioration
HP:0003113 Hypochloremia
HP:0030591 Abnormal kinetic perimetry test
HP:0100399 Duplication of the distal phalanx of the 4th toe
HP:0002226 White eyebrow
HP:0005396 Susceptibility to coronavirus 229e
HP:0011554 Double inlet atrioventricular connection
HP:0030721 Tetraphocomelia
HP:0009740 Aplasia of the parotid gland
HP:0012270 Decreased muscle glycogen content
HP:0200024 Premature chromatid separation
HP:0009648 Triangular shaped distal phalanx of the thumb
HP:0000291 Abnormality of facial adipose tissue
HP:0000265 Mastoiditis
HP:0004734 Renal cortical microcysts
HP:0003422 Vertebral segmentation defect
HP:0009049 Peroneal muscle atrophy
HP:0001579 Primary hypercorticolism
HP:0008258 Congenital adrenal hyperplasia
HP:0004213 Abnormality of the phalanges of the 5th finger
HP:0010803 Everted upper lip vermilion
HP:0001298 Encephalopathy
HP:0002643 Neonatal respiratory distress
HP:0009636 Triangular shaped proximal phalanx of the thumb
HP:0001701 Pericarditis
HP:0005576 Tubulointerstitial fibrosis
HP:0000058 Abnormality of the labia
HP:0008890 Severe short-limb dwarfism
HP:0030224 Abnormal muscle fiber desmin
HP:0011291 EEG with central sharp slow waves
HP:0002031 Abnormality of esophagus morphology
HP:0025175 Honeycomb lung
HP:0000680 Delayed eruption of primary teeth
HP:0012635 Iris hypoperfusion
HP:0000734 Disinhibition
HP:0002151 Increased serum lactate
HP:0003990 Pointed ulna
HP:0003282 Low alkaline phosphatase
HP:0006482 Abnormality of dental morphology
HP:0005988 Congenital muscular torticollis
HP:0004565 Severe platyspondyly
HP:0006437 Disproportionate prominence of the femoral medial condyle
HP:0011061 Abnormality of dental structure
HP:0100162 Irregular epiphysis of the proximal phalanx of the 3rd toe
HP:0003355 Aminoaciduria
HP:0005525 Spontaneous hemolytic crises
HP:0008148 Impaired epinephrine-induced platelet aggregation
HP:0000968 Ectodermal dysplasia
HP:0012700 Abnormal large intestine physiology
HP:0012401 Abnormal urine alpha-ketoglutarate concentration
HP:0000467 Neck muscle weakness
HP:0004336 Myelin outfoldings
HP:0003391 Gowers sign
HP:0100929 Sclerosis of 5th toe phalanx
HP:0006562 Viral hepatitis
HP:0012455 Large artery calcification
HP:0400005 Short ear
HP:0030630 Irregular central macular autofluorescence
HP:0012659 Prefrontal hypometabolism in FDG PET
HP:0008855 Moderate postnatal growth retardation
HP:0100151 Irregular epiphysis of the middle phalanx of the 3rd toe
HP:0011211 EEG with photoparoxysmal response grade I
HP:0009462 Radial deviation of the 3rd finger
HP:0030046 Hypoglycosylation of alpha-dystroglycan
HP:0030225 Accumulation of muscle fiber desmin
HP:0002164 Nail dysplasia
HP:0007703 Abnormality of retinal pigmentation
HP:0000972 Palmoplantar hyperkeratosis
HP:0030273 Reduced red cell adenosine deaminase activity
HP:0011078 Abnormality of canine
HP:0008028 Cystoid macular degeneration
HP:0002216 Premature graying of hair
HP:0011196 EEG with focal sharp waves
HP:0012336 Reduced cerebrospinal fluid 5-methyltetrahydrofolate concentration
HP:0000473 Torticollis
HP:0003948 Irregular epiphyses of the elbow
HP:0030239 Hypoplasia of the upper arm musculature
HP:0002872 Apneic episodes precipitated by illness, fatigue, stress
HP:0005197 Generalized morning stiffness
HP:0100948 Sclerosis of distal toe phalanx
HP:0001894 Thrombocytosis
HP:0001245 Small thenar eminence
HP:0010980 Hyperlipoproteinemia
HP:0004639 Elevated amniotic fluid alpha-fetoprotein
HP:0011613 Interrupted aortic arch type B
HP:0003110 Abnormality of urine homeostasis
HP:0100535 Tibiofibular diastasis
HP:0005924 Abnormality of the epiphyses of the hand
HP:0000036 Abnormality of the penis
HP:0011262 Crimped helix
HP:0010354 Triangular shaped phalanges of the 2nd toe
HP:3000052 Abnormality of hyoid bone
HP:0009062 Infantile axial hypotonia
HP:0009765 Low hanging columella
HP:0003080 Hydroxyprolinuria
HP:0011882 Decreased platelet P2Y12 receptor
HP:0005011 Mesomelic arm shortening
HP:0007964 Degenerative vitreoretinopathy
HP:0100390 Short distal phalanx of the 4th toe
HP:0007595 Redundant skin in infancy
HP:0012489 Suprasellar arachnoid cyst
HP:0011257 Serpiginous crus of helix
HP:0004297 Abnormality of the biliary system
HP:0003429 CNS hypomyelination
HP:0004430 Severe combined immunodeficiency
HP:0003217 Hyperglutaminemia
HP:0004851 Folate-responsive megaloblastic anemia
HP:0030044 Flexion contracture of digit
HP:0008388 Abnormality of the toenails
HP:0011140 Gastrointestinal duplication
HP:0030524 Peripheral visual field constriction with 30-40 degrees central field preserved
HP:0100867 Duodenal stenosis
HP:0006172 Flattened, squared-off epiphyses of tubular bones
HP:3000011 Abnormality of palatoglossus muscle
HP:0011146 Dialeptic seizures
HP:0007221 Progressive truncal ataxia
HP:0040266 Proximal upper limb muscle hypertrophy
HP:0025008 Tracheal tug on inspiration
HP:0012139 Granulocytic hypoplasia
HP:0009882 Short distal phalanx of finger
HP:0010054 Abnormality of the first metatarsal bone
HP:0008936 Muscular hypotonia of the trunk
HP:0003423 Thoracolumbar kyphoscoliosis
HP:0006389 Limited knee flexion
HP:0008517 Aplasia/Hypoplasia of the sacrum
HP:0009202 Fragmentation of the epiphysis of the proximal phalanx of the 5th finger
HP:0010769 Pilonidal sinus
HP:0002299 Brittle hair
HP:0002595 Ileus
HP:0003947 Delayed elbow epiphyseal ossification
HP:0000123 Nephritis
HP:0030817 Beaked nails
HP:0000952 Jaundice
HP:0004207 Abnormality of the 5th finger
HP:0002324 Hydranencephaly
HP:0012813 Unilateral breast hypoplasia
HP:0006889 Intellectual disability, borderline
HP:0004722 Thickening of the glomerular basement membrane
HP:0008434 Hypoplastic cervical vertebrae
HP:0025079 Pancreatic abscess
HP:0008393 Congenital curved nail of fourth toe
HP:0009155 Cone-shaped epiphysis of the proximal phalanx of the 5th finger
HP:0100053 Stippling of the epiphyses of the 2nd toe
HP:0030557 Best corrected visual acuity 0.4 LogMAR
HP:0008760 Violent behavior
HP:0045040 Abnormal lactate dehydrogenase activity
HP:0010375 Osteolytic defects of the phalanges of the 4th toe
HP:0010127 Absent epiphysis of the proximal phalanx of the hallux
HP:0100941 Sclerosis of the distal phalanx of the 4th toe
HP:0002846 Abnormality of B cells
HP:0200126 Amyolid cardiomyopathy
HP:0001726 Increased prevalence of valvular disease
HP:0007534 Congenital posterior occipital alopecia
HP:0030096 Abnormal muscle fiber dystrophin expression
HP:0000989 Pruritus
HP:0008368 Tarsal synostosis
HP:0030740 Anomalous muscle bundle of the right ventricle
HP:0000476 Cystic hygroma
HP:0005404 Increase in B cell number
HP:0002515 Waddling gait
HP:0025194 Morgagni diaphragmatic hernia
HP:0006265 Aplasia/Hypoplasia of fingers
HP:0011385 Absent internal auditory canal
HP:0001977 Abnormal thrombosis
HP:0006518 Pulmonary venous occlusion
HP:0011808 Decreased patellar reflex
HP:0012375 Chemosis
HP:0012299 Long distal phalanx of finger
HP:0011869 Abnormal platelet function
HP:0003573 Increased total bilirubin
HP:0008929 Asymmetric short stature
HP:0009658 Aplasia/Hypoplasia of the phalanges of the thumb
HP:0002530 Axial dystonia
HP:0002290 Poliosis
HP:0100068 Cone-shaped epiphyses of the 4th toe
HP:0002050 Macroorchidism, postpubertal
HP:0008345 Hypoplasia of the iris dilator muscle
HP:0004887 Respiratory failure requiring assisted ventilation
HP:0030863 Nasal flaring
HP:0010400 Patchy sclerosis of the proximal phalanx of the 2nd toe
HP:0025248 Eruptive vellus hair cyst
HP:0100729 Large face
HP:0003455 Elevated long chain fatty acids
HP:0001511 Intrauterine growth retardation
HP:0006918 Diffuse cerebral sclerosis
HP:0100447 Curved proximal phalanx of the 4th toe
HP:0100063 Small epiphyses of the 3rd toe
HP:0012068 Aspartylglucosaminuria
HP:0006687 Aortic tortuosity
HP:0012571 Ureter fissus
HP:0200143 Megaloblastic erythroid hyperplasia
HP:0100676 Vaginal lymphocele
HP:0040268 Recurrent infections of the middle ear
HP:0012162 Common carotid artery dissection
HP:0004420 Arterial thrombosis
HP:0011410 Caesarian section
HP:0030772 Proximal femoral focal deficiency
HP:0000557 Buphthalmos
HP:0025269 Panic attack
HP:0009696 Triangular epiphyses of the thumb
HP:0008629 Pulsatile tinnitus
HP:0025131 Finger swelling
HP:0012044 Seesaw nystagmus
HP:0006400 Absent knee epiphyses
HP:0007560 Unusual dermatoglyphics
HP:0025138 Abnormal serum estrone
HP:0001015 Prominent superficial veins
HP:0012358 Abnormal protein O-linked glycosylation
HP:0005102 Cochlear degeneration
HP:0030790 Abnormal cerumen color
HP:0100886 Abnormality of globe location
HP:0011910 Shortening of all phalanges of fingers
HP:0010450 Esophageal stenosis
HP:0008265 Mitochondrial lysine transport defect
HP:0030839 Knee pain
HP:0000750 Delayed speech and language development
HP:0025146 Foveal degeneration
HP:0002015 Dysphagia
HP:0030226 Abnormal muscle fiber myotilin
HP:0010351 Osteolytic defects of the phalanges of the 2nd toe
HP:0100396 Short proximal phalanx of the 4th toe
HP:0030127 Endometriosis
HP:0003196 Short nose
HP:0002385 Paraparesis
HP:0007976 Cerulean cataract
HP:0009613 Duplication of the proximal phalanx of the thumb
HP:0004360 Abnormality of acid-base homeostasis
HP:0004634 Cuboid-shaped vertebral bodies
HP:0003059 Abnormality of the radioulnar joints
HP:0100379 Aplasia of the distal phalanx of the 4th toe
HP:0009477 Proximal/middle symphalangism of 4th finger
HP:0006094 Finger joint hypermobility
HP:0006210 Postaxial oligodactyly
HP:0008789 Cone-shaped capital femoral epiphysis
HP:0006424 Elongated radius
HP:0002212 Curly hair
HP:0003724 Shoulder girdle muscle atrophy
HP:0030809 Abnormal tongue morphology
HP:0008720 Primary testicular failure
HP:0011120 Concave nasal ridge
HP:0002105 Hemoptysis
HP:0008400 Onycholysis of distal fingernails
HP:0004632 Cervical segmentation defect
HP:0008819 Narrow femoral neck
HP:0009789 Perianal abscess
HP:0007797 Retinal vascular malformation
HP:0010764 Short eyelashes
HP:0030638 Congenital stationary night blindness with normal fundus
HP:0010059 Broad hallux phalanx
HP:0008055 Aplasia/Hypoplasia affecting the uvea
HP:0100828 Increase in T cell count
HP:0007516 Redundant skin on fingers
HP:0001114 Xanthelasma
HP:0100844 Pancreatic fistula
HP:0100573 Muscular cardiac diverticulum
HP:0000363 Abnormality of earlobe
HP:3000077 Abnormality of mandible condylar process
HP:0011694 Supraventricular tachycardia with a manifest accessory pathway
HP:0430018 Abnormality of nasal musculature
HP:3000063 Abnormality of internal jugular vein
HP:0002977 Aplasia/Hypoplasia involving the central nervous system
HP:0010455 Steep acetabular roof
HP:0100164 Pseudoepiphysis of the proximal phalanx of the 3rd toe
HP:0003719 Muscle mounding
HP:0012360 Decreased fucosylation of O-linked protein glycosylation
HP:0011876 Abnormal platelet volume
HP:0005456 Absent ethmoidal sinuses
HP:0040127 Abnormal sweat homeostasis
HP:0005237 Degenerative liver disease
HP:0005941 Intermittent hyperpnea at rest
HP:0005164 Dysplastic pulmonary valve
HP:0011819 Submucous cleft soft palate
HP:0010916 Abnormality of alanine metabolism
HP:0006077 Absent proximal finger flexion creases
HP:0010094 Complete duplication of the proximal phalanx of the hallux
HP:0100307 Cerebellar hemisphere hypoplasia
HP:0100378 Absent distal phalanx of the 3rd toe
HP:0004349 Reduced bone mineral density
HP:0001948 Alkalosis
HP:0002243 Protein-losing enteropathy
HP:0100686 Enthesitis
HP:0005938 Abnormal respiratory motile cilium morphology
HP:0030793 Jaw swelling
HP:0010329 Abnormality of the epiphyses of the 3rd toe
HP:0002841 Recurrent fungal infections
HP:0005324 Disturbance of facial expression
HP:0011687 AV nodal tachycardia
HP:0030735 Ureterovesical junction obstruction
HP:0011772 Abnormality of thyroid morphology
HP:0100211 Stippling of the epiphysis of the distal phalanx of the 5th toe
HP:0000260 Wide anterior fontanel
HP:0009204 Bracket epiphysis of the middle phalanx of the 5th finger
HP:0011978 Elevated urinary vanillylmandelic acid
HP:0000358 Posteriorly rotated ears
HP:0030370 Abnormal naive B cell count
HP:0005521 Disseminated intravascular coagulation
HP:0030856 Posterior staphyloma
HP:0100191 Absent epiphysis of the proximal phalanx of the 4th toe
HP:0003799 Marked delay in bone age
HP:0040025 Clinodactyly of the 4th finger
HP:0008569 Microtia, second degree
HP:0002652 Skeletal dysplasia
HP:0004042 Ulnar metaphyseal irregularity
HP:0045073 Serositis
HP:0011531 Vitritis
HP:0030274 Accessory scrotum
HP:0002979 Bowing of the legs
HP:0004974 Coarctation of abdominal aorta
HP:0008666 Impaired histidine renal tubular absorption
HP:0012530 Abnormal number of dense granules
HP:0005298 Atrioventricular canal defect with right ventricle aorta and pulmonary atresia
HP:0000537 Epicanthus inversus
HP:0030325 Cervicomedullary schisis
HP:0008407 Hyperconvex thumb nails
HP:0000821 Hypothyroidism
HP:0100560 Upper limb asymmetry
HP:0025010 Foveal atrophy
HP:0010963 Absence of stomach bubble on fetal sonography
HP:0006344 Abnormality of primary molar morphology
HP:0010512 Adrenal calcification
HP:0025244 Subretinal pigment epithelium hemorrhage
HP:0008193 Primary gonadal insufficiency
HP:0011709 Atrioventricular dissociation
HP:0009891 Underdeveloped supraorbital ridges
HP:0003443 Decreased size of nerve terminals
HP:0000871 Panhypopituitarism
HP:0001161 Hand polydactyly
HP:0004972 Elevated mean arterial pressure
HP:0009238 Aplasia of the 5th finger
HP:0011390 Morphological abnormality of the inner ear
HP:0011116 Abnormality of interferon secretion
HP:0001547 Abnormality of the rib cage
HP:0030884 Gastrojejunal tube feeding in infancy
HP:0006423 Peg-like central prominence of distal tibial metaphyses
HP:0009535 Aplasia of the 2nd finger
HP:0011063 Abnormality of incisor morphology
HP:0007779 Anterior segment of eye aplasia
HP:0008953 Pectoralis major hypoplasia
HP:0004225 Abnormality of the distal phalanx of the 5th finger
HP:0001993 Ketoacidosis
HP:0002960 Autoimmunity
HP:0100701 Abnormality of the pia mater
HP:0010558 Abnormality of the clivus
HP:0010106 Aplasia of the proximal phalanx of the hallux
HP:0002970 Genu varum
HP:0030825 Absent foveal reflex
HP:0200018 Protanomaly
HP:0011691 Supraventricular tachycardia with a concealed accessory pathway on the left free wall
HP:0008494 Inferior lens subluxation
HP:0009694 Small thumb epiphysis
HP:0007351 Upper limb postural tremor
HP:0003252 Anteriorly displaced genitalia
HP:0009299 Aplasia/Hypoplasia of the middle phalanx of the 4th finger
HP:0025181 Abdominal aseptic abscess
HP:0006696 Polymorphic and polytopic ventricular extrasystoles
HP:0007511 Mottled pigmentation of photoexposed areas
HP:0000708 Behavioral abnormality
HP:0011150 Myoclonic absences
HP:0003888 Flattened humeral heads
HP:0012895 Scapular muscle hypertrophy
HP:0012543 Hemosiderinuria
HP:0007800 Increased axial globe length
HP:0011419 Placental abruption
HP:0005469 Flat occiput
HP:0100110 Triangular epiphysis of the distal phalanx of the 2nd toe
HP:0004800 Duodenal diverticula
HP:0011198 EEG with generalized epileptiform discharges
HP:0000066 Labial hypoplasia
HP:0010006 Duplication of the proximal phalanx of hand
HP:0009277 Contracture of the metacarpophalangeal joint of the 4th finger
HP:0040092 Asymmetry of the shape of the ears
HP:0100687 Polyotia
HP:0030254 Nail bed hemorrhage
HP:0006394 Limited pronation/supination of forearm
HP:0012888 Abnormality of the uterine cervix
HP:0012646 Retractile testis
HP:0001386 Joint swelling
HP:0000282 Facial edema
HP:0006152 Proximal symphalangism of hands
HP:0007503 Generalized ichthyosis
HP:0011128 Acute esophageal necrosis
HP:0009336 Bracket epiphysis of the distal phalanx of the 3rd finger
HP:0001727 Thromboembolic stroke
HP:0002529 Neuronal loss in central nervous system
HP:0100435 Bullet-shaped middle phalanx of the 4th toe
HP:0100825 Cheilitis
HP:0100489 Proximal/middle symphalangism of 2nd toe
HP:0030398 Abnormal platelet ATP dense granule secretion
HP:0008233 Decreased serum progesterone
HP:0005863 Type E brachydactyly
HP:0003392 First dorsal interossei muscle weakness
HP:0430024 Abnormality of external jugular vein
HP:0100439 Bullet-shaped proximal phalanx of the 5th toe
HP:0012091 Abnormality of pancreas physiology
HP:0000137 Abnormality of the ovary
HP:0004433 Secretory IgA deficiency
HP:0030887 Increased lymphocyte apoptosis
HP:0003492 High urinary gonadotropin level
HP:0003311 Hypoplasia of the odontoid process
HP:0000998 Hypertrichosis
HP:0008488 Anterior rounding of vertebral bodies
HP:0030516 Homonymous hemianopia
HP:0003029 Enlargement of the ankles
HP:0001571 Multiple impacted teeth
HP:0001083 Ectopia lentis
HP:0200028 Pretibial myxedema
HP:0001582 Redundant skin
HP:0040081 Abnormal levels of creatine kinase in blood
HP:0100174 Irregular epiphysis of the distal phalanx of the 4th toe
HP:0000727 Frontal lobe dementia
HP:0007045 Midline brain calcifications
HP:0003125 Reduced factor VIII activity
HP:0000763 Sensory neuropathy
HP:0010809 Broad uvula
HP:0005246 Giant hypertrophic gastritis
HP:0004331 Decreased skull ossification
HP:0012678 Iron accumulation in substantia nigra
HP:0003906 Broad humeral epiphyseal plate
HP:0011530 Retinal hole
HP:0030229 Accumulation of muscle fiber valosin-containing protein
HP:0005772 Aplasia/Hypoplasia of the tibia
HP:0004599 Absent or minimally ossified vertebral bodies
HP:0025264 Stiff ankle
HP:0010166 Fragmentation of the epiphyses of the toes
HP:0010634 Total hyposmia
HP:0004879 Intermittent hyperventilation
HP:0007041 Chronic lymphocytic meningitis
HP:0002354 Memory impairment
HP:0004025 Spurred radial metaphysis
HP:0005103 Calcification of the auricular cartilage
HP:0100495 Mastocytosis
HP:0012247 Specific anosmia
HP:0030350 Erythematous papule
HP:0006486 Abnormality of the dental root
HP:0000819 Diabetes mellitus
HP:0005206 Pancreatic pseudocyst
HP:0010926 Aculeiform cataract
HP:0004499 Chronic rhinitis due to narrow nasal airway
HP:0005406 Recurrent bacterial skin infections
HP:0030716 Acrania
HP:0100067 Bracket epiphyses of the 4th toe
HP:3000047 Abnormality of glossopharyngeal nerve
HP:0004271 Cortical thickening of hand bones
HP:0030334 Abnormal CD4-positive, CD25-positive, alpha-beta regulatory T cell morphology
HP:0007395 Postnatal-onset ichthyosiform erythroderma
HP:0009217 Enlarged epiphysis of the middle phalanx of the 4th finger
HP:0000817 Poor eye contact
HP:0045044 Decreased serum complement C4b
HP:0011276 Vascular skin abnormality
HP:0100589 Urogenital fistula
HP:0004234 Bone-in-a-bone appearance of carpal bones
HP:0011271 Prominent tragus
HP:0004409 Hyposmia
HP:0012373 Abnormal eye physiology
HP:0002135 Basal ganglia calcification
HP:0100429 Broad proximal phalanx of the 4th toe
HP:0012723 Sinoatrial block
HP:0010333 Flexion contracture of 3rd toe
HP:0010929 Abnormality of cation homeostasis
HP:0007098 Paroxysmal choreoathetosis
HP:0100585 Telangiectasia of the skin
HP:0011179 Beta-EEG
HP:0012347 Abnormal protein N-linked glycosylation
HP:0001612 Weak cry
HP:0030041 Schmorl's node
HP:0003980 Pseudarthrosis of the radius
HP:0000721 Lack of spontaneous play
HP:0009968 Partial duplication of the distal phalanx of the 3rd finger
HP:0009300 Aplasia/Hypoplasia of the proximal phalanx of the 4th finger
HP:0003366 Abnormality of the femoral neck or head region
HP:0001090 Large eyes
HP:0008306 Abnormal iron deposition in mitochondria
HP:0004003 Medially flattened radial epiphyses
HP:0005879 Congenital finger flexion contractures
HP:0008132 Medial rotation of the medial malleolus
HP:0008131 Tarsal stippling
HP:0009745 Spinalarachnoid cyst
HP:0002538 Abnormality of the cerebral cortex
HP:0008221 Adrenal hyperplasia
HP:0012436 Nonocclusive coronary artery disease
HP:0002629 Gastrointestinal arteriovenous malformation
HP:0002078 Truncal ataxia
HP:0005743 Avascular necrosis of the capital femoral epiphysis
HP:0011323 Cleft of chin
HP:0430012 Incomplete ossification of palatine bone
HP:0009421 Aplasia/Hypoplasia of the distal phalanx of the 3rd finger
HP:0030572 Pinhole visual acuity 0.4 LogMAR
HP:0003274 Hypoplastic acetabulae
HP:0008428 Vertebral clefting
HP:0100510 Vitamin C deficiency
HP:0004743 Chronic tubulointerstitial nephritis
HP:0000405 Conductive hearing impairment
HP:0007107 Segmental peripheral demyelination
HP:0001070 Mottled pigmentation
HP:0100218 Irregular epiphysis of the middle phalanx of the 5th toe
HP:0011018 Abnormality of the cell cycle
HP:0009990 Duplication of the proximal phalanx of the 5th finger
HP:0004910 Bicarbonate-wasting renal tubular acidosis
HP:0025061 Unifocal splenic abscess
HP:0010979 Abnormality of the level of lipoprotein cholesterol
HP:0009436 Triangular shaped middle phalanx of the 3rd finger
HP:0030943 Vulvodynia
HP:0009392 Triangular epiphyses of the 5th finger
HP:0100796 Orchitis
HP:0004563 Increased spinal bone density
HP:0011982 Black pigment gallstones
HP:0003907 Abnormality of the humeral metaphyses
HP:0012757 Abnormal neuron morphology
HP:0011371 Recurrent viral skin infections
HP:0006903 Congenital peripheral neuropathy
HP:0007650 Progressive ophthalmoplegia
HP:0003926 Abnormality of the humeral diaphysis
HP:0030042 Incomplete ossification of pubis
HP:0011224 Ablepharon
HP:0002308 Arnold-Chiari malformation
HP:0003846 Wide epiphyseal plates of the upper limbs
HP:0008024 Congenital nuclear cataract
HP:0000446 Narrow nasal bridge
HP:0000745 Diminished motivation
HP:0030558 Best corrected visual acuity 0.5 LogMAR
HP:0030849 Hepatojugular reflux
HP:0025309 Abnormal pupil shape
HP:0011046 Agenesis of primary maxillary central incisor
HP:0010317 Scapular aplasia
HP:0011422 Abnormality of chloride homeostasis
HP:0009681 Ivory epiphysis of the distal phalanx of the thumb
HP:0009286 Curved distal phalanx of the 4th finger
HP:0000035 Abnormality of the testis
HP:0030880 Raynaud phenomenon
HP:0000161 Median cleft lip
HP:0100771 Hypoperistalsis
HP:0045083 Increased body mass index
HP:0011044 Abnormal number of permanent teeth
HP:0100296 Perifascicular muscle fiber atrophy
HP:0100306 Muscle fiber hyaline bodies
HP:0011646 Juxtaductal coarctation of the aorta
HP:0011618 Pulmonary situs ambiguus with bilateral morphologic right lungs
HP:0001026 Penetrating foot ulcers
HP:0003145 Decreased adenosylcobalamin
HP:0009907 Attached earlobe
HP:0011034 Amyloidosis
HP:0004408 Abnormality of the sense of smell
HP:0009071 Inflammatory myopathy
HP:0002694 Sclerosis of skull base
HP:0001969 Tubulointerstitial abnormality
HP:0000140 Abnormality of the menstrual cycle
HP:0001706 Endocardial fibroelastosis
HP:0001082 Cholecystitis
HP:0005372 Abnormality of B cell physiology
HP:0030946 Conjunctival papillae
HP:0004474 Persistent open anterior fontanelle
HP:0000368 Low-set, posteriorly rotated ears
HP:0007230 Decreased distal sensory nerve action potential
HP:0001258 Spastic paraplegia
HP:0005407 Decreased number of CD4+ T cells
HP:0012661 Hypothalamic hypometabolism in FDG PET
HP:0010859 Frank breech presentation
HP:0012311 Monocytosis
HP:0011226 Aplasia/Hypoplasia of the eyelid
HP:0010823 Ridged cranial sutures
HP:0004362 Abnormality of enteric ganglion morphology
HP:0012307 Spatulate ribs
HP:0045080 Decreased number of CD3+ T cells
HP:0002651 Spondyloepimetaphyseal dysplasia
HP:0009112 Absent left hemidiaphragm
HP:0009559 Bullet-shaped distal phalanx of the 2nd finger
HP:0030477 Abnormal timing of dark-adapted bright flash electroretinogram
HP:0030773 Internuclear ophthalmoplegia
HP:0011296 EEG with temporal sharp waves
HP:0100918 Sclerosis of 2nd finger phalanx
HP:0001075 Atrophic scars
HP:0005684 Distal arthrogryposis
HP:0002401 Stroke-like episodes
HP:0012673 Aplasia of the upper vagina
HP:0011045 Agenesis of permanent maxillary central incisor
HP:0000543 Optic disc pallor
HP:0009796 Branchial cyst
HP:0004763 Paroxysmal supraventricular tachycardia
HP:0009781 Lester's sign
HP:0007021 Pain insensitivity
HP:0007115 Orbital encephalocele
HP:0010425 Partial duplication of the distal phalanx of the 2nd toe
HP:0025004 Hallux rigidus
HP:0003106 Subperiosteal erosions due to secondary hyperparathyroidism
HP:0003071 Flattened epiphysis
HP:0010882 Pulmonary valve atresia
HP:0005689 Dermatoglyphic ridges abnormal
HP:0000794 IgA deposition in the glomerulus
HP:0010678 Enuresis diurna
HP:0100302 Muscle fiber tubuloreticular inclusions
HP:0010995 Abnormality of dicarboxylic acid metabolism
HP:0012229 CSF pleocytosis
HP:0005191 Congenital knee dislocation
HP:0025012 Status cribrosum
HP:0001540 Diastasis recti
HP:0008122 Calcaneonavicular fusion
HP:0011079 Impacted tooth
HP:0001970 Tubulointerstitial nephritis
HP:0004607 Anterior beaking of lower thoracic vertebrae
HP:0100098 Abnormality of the epiphysis of the middle phalanx of the 5th toe
HP:0010579 Cone-shaped epiphysis
HP:0006146 Broad metacarpal epiphyses
HP:0003712 Skeletal muscle hypertrophy
HP:0030503 Macular telangiectasia
HP:0011579 Unbalanced atrioventricular canal defect
HP:0010165 Enlarged epiphyses of the toes
HP:0012396 Biliary dyskinesia
HP:0002638 Superficial thrombophlebitis
HP:0009391 Stippling of the epiphyses of the 5th finger
HP:0010255 Stippling of the epiphyses of the distal phalanges of the hand
HP:0005072 Hyperextensibility at wrists
HP:0030157 Flank pain
HP:0001827 Genital tract atresia
HP:0011283 Abnormality of the metencephalon
HP:0006610 Wide intermamillary distance
HP:0007747 Monocular horizontal nystagmus
HP:0040013 Decreased mitochondrial number
HP:0009157 Ivory epiphysis of the proximal phalanx of the 5th finger
HP:0012477 Vocal tremor
HP:0004889 Intermittent episodes of respiratory insufficiency due to muscle weakness
HP:0011535 Abnormal atrial arrangement
HP:0100228 Fragmentation of the epiphysis of the proximal phalanx of the 5th toe
HP:0001443 Abnormality of the gluteal musculature
HP:0005560 Imbalanced hemoglobin synthesis
HP:0011501 Anterior lenticonus
HP:0008587 Mild neurosensory hearing impairment
HP:0009699 Osteolytic defects of the hand bones
HP:0002982 Tibial bowing
HP:0012285 Abnormal hypothalamus physiology
HP:0001657 Prolonged QT interval
HP:0040032 Hypoplasia of the upper eyelids
HP:0011692 Supraventricular tachycardia with a concealed accessory pathway on the right free wall
HP:0011053 Agenesis of mandibular premolar
HP:0100855 Triceps hypoplasia
HP:0001254 Lethargy
HP:0001973 Autoimmune thrombocytopenia
HP:0200160 Agenesis of maxillary incisor
HP:0007583 Telangiectasia macularis eruptiva perstans
HP:0012868 Sperm tail anomaly
HP:0010104 Absent first metatarsal
HP:0010570 Low maternal serum alpha-fetoprotein
HP:0000662 Nyctalopia
HP:0030796 Increased C-peptide level
HP:0009810 Abnormality of upper limb joint
HP:0011607 Transposition of the great arteries with ventricular septal defect
HP:0010251 Irregular epiphyses of the distal phalanges of the hand
HP:0003538 Increased serum iduronate sulfatase activity
HP:0003337 Reduced prothrombin consumption
HP:0002745 Oral leukoplakia
HP:0030102 Reduced muscle fiber alpha sarcoglycan
HP:0100466 Patchy sclerosis of the proximal phalanx of the 5th toe
HP:0011945 Bronchiolitis obliterans organizing pneumonia
HP:0045057 Decreased levels of alpha-fetoprotein
HP:0003938 Synostosis involving the elbow
HP:0011298 Prominent digit pad
HP:0012729 Saccular descending thoracic aortic aneurysm
HP:0030099 Reduced muscle fiber alpha dystroglycan
HP:0010077 Broad distal phalanx of the hallux
HP:0011889 Bleeding with minor or no trauma
HP:0100817 Renovascular hypertension
HP:0009959 Duplication of phalanx of 3rd finger
HP:0012547 Abnormal involuntary eye movements
HP:0007935 Juvenile posterior subcapsular lenticular opacities
HP:0001587 Primary ovarian failure
HP:0009843 Aplasia/Hypoplasia of the middle phalanges of the hand
HP:0012765 Widened cerebellar subarachnoid space
HP:0002079 Hypoplasia of the corpus callosum
HP:0003175 Hypoplastic ischia
HP:0030776 Modic type I vertebral endplate changes
HP:0002055 Curved linear dimple below the lower lip
HP:0002936 Distal sensory impairment
HP:0030369 Induced vaginal delivery
HP:0008163 Decreased circulating cortisol level
HP:3000067 Abnormality of lateral crico-arytenoid
HP:0008034 Abnormal iris pigmentation
HP:0001351 Jerk-locked premyoclonus spikes
HP:0002389 Cavum septum pellucidum
HP:0007675 Progressive night blindness
HP:0012665 Moderately reduced ejection fraction
HP:0040069 Abnormality of lower limb bone
HP:0006069 Severe carpal ossification delay
HP:0012453 Bilateral wrist flexion contracture
HP:0011677 Tetralogy of Fallot with atrioventricular canal defect
HP:0012384 Rhinitis
HP:0009337 Cone-shaped epiphysis of the distal phalanx of the 3rd finger
HP:0012234 Agranulocytosis
HP:0012007 Hallucinatory auras
HP:0001412 Enteroviral hepatitis
HP:0002741 Recurrent Serratia marcescens infections
HP:0004902 Congenital lactic acidosis
HP:0005548 Megakaryocytopenia
HP:0010519 Increased fetal movement
HP:0011964 Intermittent painful muscle spasms
HP:0001043 Prominent scalp veins
HP:0025168 Left ventricular diastolic dysfunction
HP:0001795 Hyperconvex nail
HP:0012764 Orthopnea
HP:0012322 Perifolliculitis
HP:0030186 Kinetic tremor
HP:0004285 Overmodelled hand bones
HP:0001919 Acute kidney injury
HP:0410007 Abnormality of cartilage morphology
HP:0005045 Diaphyseal cortical sclerosis
HP:0008211 Parathyroid agenesis
HP:0100371 Aplasia/Hypoplasia of the distal phalanx of the 5th toe
HP:0005155 Ventricular escape rhythms
HP:0002011 Morphological abnormality of the central nervous system
HP:0003704 Scapuloperoneal weakness
HP:0011414 Hydropic placenta
HP:0010900 Abnormality of threonine metabolism
HP:0100207 Irregular epiphysis of the distal phalanx of the 5th toe
HP:0003654 Reduced dihydropyrimidine dehydrogenase activity
HP:0010997 Chromosomal breakage induced by ionizing radiation
HP:0010922 Membranous cataract
HP:0002786 Tracheobronchomalacia
HP:0003095 Septic arthritis
HP:0030821 Hooded lower eyelid
HP:0007401 Macular atrophy
HP:0011565 Common atrium
HP:0003809 Reduced intrathoracic adipose tissue
HP:0006248 Limited wrist movement
HP:0005789 Generalized osteosclerosis
HP:0030506 Yellow/white lesions of the retina
HP:0100446 Curved proximal phalanx of the 3rd toe
HP:0011025 Abnormality of cardiovascular system physiology
HP:0009579 Proximal/middle symphalangism of the 2nd finger
HP:0025102 Dysgenesis of the basal ganglia
HP:0000238 Hydrocephalus
HP:0007702 Pigmentary retinal deposits
HP:0010527 Astereognosia
HP:0100578 Lipoatrophy
HP:0011827 Malaligned philtral ridges
HP:0004552 Scarring alopecia of scalp
HP:0030270 Elevated red cell adenosine deaminase activity
HP:0007550 Hypohidrosis or hyperhidrosis
HP:0009248 Abnormality of the epiphysis of the proximal phalanx of the 4th finger
HP:0012138 Granulocytic hyperplasia
HP:0000866 Euthyroid multinodular goiter
HP:0009994 Partial duplication of the distal phalanx of the 5th finger
HP:0009684 Stippling of the epiphysis of the distal phalanx of the thumb
HP:0009414 Fragmentation of the epiphyses of the 3rd finger
HP:0001814 Deep-set nails
HP:0003791 Deposits immunoreactive to beta-amyloid protein
HP:0005606 Hyperpigmented nevi and streak
HP:0010083 Triangular shaped distal phalanx of the hallux
HP:0040111 Bilateral external ear deformity
HP:0011269 Bifid tragus
HP:0030248 Mesenteric venous thrombosis
HP:0200044 Porokeratosis
HP:0009886 Trichorrhexis nodosa
HP:0100249 Calcification of muscles
HP:0001965 Abnormality of the scalp
HP:0012002 Experiential auras
HP:0009223 Stippling of the epiphysis of the middle phalanx of the 4th finger
HP:0010713 1-5 toe syndactyly
HP:0004048 Narrow joint spaces of wrist
HP:0030786 Photopsia
HP:0010300 Abnormally low-pitched voice
HP:0001355 Megalencephaly
HP:0010144 Ivory epiphysis of the distal phalanx of the hallux
HP:0012041 Decreased fertility in males
HP:0011281 Abnormality of urine catecholamine concentration
HP:0010018 Enlarged epiphysis of the 1st metacarpal
HP:0005640 Abnormal vertebral segmentation and fusion
HP:0009196 Absent metacarpal epiphyses
HP:0001991 Aplasia/Hypoplasia of toe
HP:0005731 Cortical irregularity
HP:0100490 Camptodactyly of finger
HP:0002421 Poor head control
HP:0003182 Shallow acetabular fossae
HP:0010855 EEG with localized low amplitude activity
HP:0003116 Abnormal echocardiogram
HP:0008346 Increased red cell sickling tendency
HP:0009581 Broad proximal phalanx of the 2nd finger
HP:0007363 Aplasia/Hypoplasia of the pyramidal tract
HP:0001414 Microvesicular hepatic steatosis
HP:0003993 Broad ulna
HP:0100787 Prostate neoplasm
HP:0040114 Absence of the reflex of the tensor tympani muscle
HP:0030387 Increased class-switched memory B cell count
HP:0000885 Broad ribs
HP:0011363 Abnormality of hair growth rate
HP:0000471 Gastrointestinal angiodysplasia
HP:0025090 Abnormal large intestinal mucosa morphology
HP:0009555 Hypoplasia of the pharynx
HP:0025069 Comitant strabismus
HP:0008678 Renal hypoplasia/aplasia
HP:0025157 Increased urinary sedoheptulose
HP:0001829 Foot polydactyly
HP:0012261 Abnormal respiratory motile cilium physiology
HP:0100853 Hypoplastic areola
HP:0030955 Alcoholism
HP:0009239 Aplasia/Hypoplasia of the distal phalanx of the 5th finger
HP:0000740 Episodic paroxysmal anxiety
HP:0002503 Spinocerebellar tract degeneration
HP:0025233 Sleep paralysis
HP:0004122 Midline defect of the nose
HP:0012123 Posterior uveitis
HP:0100308 Cerebral cortical hemiatrophy
HP:0007471 Axillary and groin hyperpigmentation and hypopigmentation
HP:0040009 Hyperparakeratosis
HP:0005490 Postnatal macrocephaly
HP:0010183 Abnormality of the middle phalanges of the toes
HP:0100557 Hemiatrophy of lower limb
HP:0003961 Fractured forearm bones
HP:0100381 Absent middle phalanx of the 3rd toe
HP:0005352 Severe T-cell immunodeficiency
HP:0009055 Generalized limb muscle atrophy
HP:0012752 Focal T2 hypointense basal ganglia lesion
HP:0010044 Short 4th metacarpal
HP:0100105 Irregular epiphysis of the distal phalanx of the 2nd toe
HP:0006694 Early progressive calcific cardiac valvular disease
HP:0006045 Short pointed phalanges
HP:0009345 Triangular epiphysis of the distal phalanx of the 3rd finger
HP:0010409 Patchy sclerosis of the middle phalanx of the 2nd toe
HP:0030221 Sweet craving
HP:0012167 Hair-pulling
HP:0100545 Arterial stenosis
HP:0004831 Recurrent thromboembolism
HP:0030571 Pinhole visual acuity 0.3 LogMAR
HP:0100587 Abnormality of the preputium
HP:0009702 Carpal synostosis
HP:0006802 Abnormal anterior horn cell morphology
HP:0009920 Nevus of Ota
HP:0004197 Symphalangism of the 4th finger
HP:0012305 Coarctation of the descending aortic arch
HP:0002353 EEG abnormality
HP:0010932 Abnormality of nucleobase metabolism
HP:0007064 Progressive language deterioration
HP:0006955 Olivopontocerebellar hypoplasia
HP:0100215 Cone-shaped epiphysis of the middle phalanx of the 5th toe
HP:0003866 Coarse humeral trabeculae
HP:0010668 Abnormality of the zygomatic bone
HP:0006915 Inability to walk by childhood/adolescence
HP:0100959 Dense metaphyseal bands
HP:0004754 Permanent atrial fibrillation
HP:0012561 Unicuspid aortic valve
HP:0006184 Decreased palmar creases
HP:0003215 Dicarboxylic aciduria
HP:0000483 Astigmatism
HP:0009069 Lethal infantile mitochondrial myopathy
HP:0030953 Conjunctival hyperemia
HP:0007307 Rapid neurologic deterioration
HP:0030515 Moderate visual impairment
HP:0008753 Aplasia of the epiglottis
HP:0005461 Craniofacial disproportion
HP:0012474 Carotid artery occlusion
HP:0009510 Small epiphysis of the distal phalanx of the 2nd finger
HP:0005288 Abnormality of the nares
HP:0011741 Secondary hyperaldosteronism
HP:0012887 Ovarian serous cystadenoma
HP:0004686 Short third metatarsal
HP:0100324 Scleroderma
HP:0009273 Deviation of the 4th finger
HP:0010909 Abnormality of arginine metabolism
HP:0005263 Gastritis
HP:0009129 Upper limb amyotrophy
HP:0004400 Abnormality of the pylorus
HP:0011081 Incisor macrodontia
HP:0004188 Abnormality of the 4th finger
HP:0000331 Short chin
HP:0004991 Rhizomelic arm shortening
HP:0003652 Recurrent myoglobinuria
HP:0009986 Complete duplication of the phalanges of the 5th finger
HP:0200127 Atrial cardiomyopathy
HP:0002914 Hyperchloriduria
HP:0009251 Bracket epiphysis of the distal phalanx of the 4th finger
HP:0006315 Single median maxillary incisor
HP:0012730 Aglossia
HP:0009278 Ulnar deviation of the 4th finger
HP:0010156 Pseudoepiphysis of the 1st metatarsal
HP:0030896 Abnormal gastrointestinal transit time
HP:0000230 Gingivitis
HP:0100022 Abnormality of movement
HP:0045061 Decreased carnitine level in liver
HP:0008309 Medium chain dicarboxylic aciduria
HP:0002384 Focal seizures with impairment of consciousness or awareness
HP:0008705 Ureteral triplication
HP:0001953 Diabetic ketoacidosis
HP:0011544 L-looping of the right ventricle
HP:0100496 Abnormality of the vitamin B3 metabolism
HP:0100860 Inferior mesenteric artery aneurysm
HP:0010298 Smooth tongue
HP:0000987 Atypical scarring of skin
HP:0011814 Increased urinary hypoxanthine
HP:0008786 Iliac crest serration
HP:0004319 Decreased circulating aldosterone level
HP:0012413 Notched primary central incisor
HP:0100806 Sepsis
HP:0000846 Adrenal insufficiency
HP:0012241 Levator palpebrae superioris atrophy
HP:0000912 Sprengel anomaly
HP:0006462 Generalized bone demineralization
HP:0012071 Abnormality of acetylcarnitine metabolism
HP:0100337 Bilateral cleft palate
HP:0100691 Abnormality of the curvature of the cornea
HP:0100668 Intestinal duplication
HP:0008774 Aplasia/Hypoplasia of the inner ear
HP:0012782 Perilobar nephrogenic rest
HP:0001036 Parakeratosis
HP:0011151 Obtundation status
HP:0010869 Asynergia
HP:0100033 Tics
HP:0011589 Common origin of the right brachiocephalic artery and left common carotid artery
HP:0012611 Increased urinary urate
HP:0011640 Single coronary artery origin
HP:0005217 Duplication of internal organs
HP:0010159 Triangular epiphysis of the 1st metatarsal
HP:0025357 Erratic myoclonus
HP:0012443 Abnormality of brain morphology
HP:0005193 Restricted large joint movement
HP:0012855 Scrotal hyperpigmentation
HP:0002876 Episodic tachypnea
HP:0025124 Fragile teeth
HP:0100076 Triangular epiphyses of the 4th toe
HP:0100334 Unilateral cleft palate
HP:0000370 Abnormality of the middle ear
HP:0010638 Elevated alkaline phosphatase of hepatic origin
HP:0012734 Ketotic hypoglycemia
HP:0030732 Dysplastic tricuspid valve
HP:0005982 Reduced phenylalanine hydroxylase activity
HP:0002310 Orofacial dyskinesia
HP:0005707 Bilateral triphalangeal thumbs
HP:0100136 Bracket epiphysis of the distal phalanx of the 3rd toe
HP:0000851 Congenital hypothyroidism
HP:0012349 Abnormal sialylation of N-linked protein glycosylation
HP:0030053 Stiff skin
HP:0010663 Abnormality of thalamus morphology
HP:0010365 Symphalangism affecting the phalanges of the 3rd toe
HP:0003939 Humeroulnar synostosis
HP:0011525 Iris nevus
HP:0009492 Fragmentation of the epiphyses of the 2nd finger
HP:0002363 Abnormality of brainstem morphology
HP:0004341 Abnormality of vitamin B12 metabolism
HP:0012899 Handgrip myotonia
HP:0030112 Abnormal muscle fiber alpha dystroglycan
HP:0003226 Rectilinear intracellular accumulation of autofluorescent lipopigment storage material
HP:0001912 Abnormality of basophils
HP:0030499 Macular drusen
HP:0004219 Abnormality of the middle phalanx of the 5th finger
HP:0000132 Menorrhagia
HP:0012507 Weakness of orbicularis oculi muscle
HP:0100380 Aplasia of the distal phalanx of the 5th toe
HP:0009858 Triangular shaped proximal phalanges of the hand
HP:0012181 Entrapment neuropathy
HP:0012352 Abnormal fucosylation of protein N-linked glycosylation
HP:0000524 Conjunctival telangiectasia
HP:0030462 Abnormal amplitude of flash visual evoked potentials
HP:0003144 Increased serum serotonin
HP:0012165 Oligodactyly
HP:0025082 Abnormal cutaneous elastic fiber morphology
HP:0009701 Metacarpal synostosis
HP:0005819 Short middle phalanx of finger
HP:0011826 Philtrum with midline raphe
HP:0006989 Dysplastic corpus callosum
HP:0030146 Abnormal liver parenchyma morphology
HP:0012647 Abnormal inflammatory response
HP:0005151 Preductal coarctation of the aorta
HP:0000429 Abnormality of the nasal alae
HP:0008111 Broad distal hallux
HP:0006291 Marked delay in eruption of permanent teeth
HP:0008076 Osteoporotic tarsals
HP:0030388 Decreased class-switched memory B cell count
HP:0012286 Abnormal hypothalamus morphology
HP:0002486 Myotonia
HP:0025368 Abnormality of growth plate morphology
HP:0012685 Decreased pineal volume
HP:0007875 Congenital blindness
HP:0100487 Triangular shaped distal phalanx of the 5th toe
HP:0000607 Periorbital wrinkles
HP:0010513 Pituitary calcification
HP:0006495 Aplasia/Hypoplasia of the ulna
HP:0007158 Progressive extrapyramidal muscular rigidity
HP:0000277 Abnormality of the mandible
HP:0045058 Abnormality of the testis size
HP:0002218 Silver-gray hair
HP:0010872 T-wave inversion
HP:0010284 Intra-oral hyperpigmentation
HP:0003484 Upper limb muscle weakness
HP:0009282 Abnormality of the distal phalanx of the 4th finger
HP:0100955 Giant cell granuloma of mandible
HP:0100291 Abnormality of central somatosensory evoked potentials
HP:0002918 Hypermagnesemia
HP:0030746 Intraventricular hemorrhage
HP:0010593 Abnormality of fibular epiphyses
HP:3000056 Abnormality of artery of lower lip
HP:0000362 Otosclerosis
HP:0005608 Bilobate gallbladder
HP:0001958 Nonketotic hypoglycemia
HP:0006338 Malformation of mandibular premolar
HP:0004195 Osteolytic defects of the phalanges of the 4th finger
HP:0001982 Sea-blue histiocytosis
HP:0006129 Drumstick terminal phalanges
HP:0009632 Curved proximal phalanx of the thumb
HP:0002645 Wormian bones
HP:0001636 Tetralogy of Fallot
HP:0100024 Conspicuously happy disposition
HP:0009557 Aplasia/Hypoplasia of the distal phalanx of the 2nd finger
HP:0002014 Diarrhea
HP:0001621 Weak voice
HP:0004616 Cleft vertebral arch
HP:0012040 Corneal stromal edema
HP:0010596 Abnormality of the proximal radial epiphysis
HP:0010688 Low placental alkaline phosphatase
HP:0002411 Myokymia
HP:0030718 Right atrial enlargement
HP:0025245 Cutaneous cyst
HP:0012302 Herpes simplex encephalitis
HP:0009026 Hypoplasia of latissimus dorsi muscle
HP:0000917 Superior pectus carinatum
HP:0030538 Unaided visual acuity 0.3 LogMAR
HP:0004713 Reversible renal failure
HP:0004100 Abnormality of the 2nd finger
HP:0003720 Generalized muscle hypertrophy
HP:0010777 Bronchomegaly
HP:0012381 Delayed self-feeding during toddler years
HP:0003648 Lacticaciduria
HP:0008915 Childhood-onset truncal obesity
HP:0200149 CSF lymphocytic pleiocytosis
HP:0011295 EEG with parietal sharp waves
HP:0007544 Piebaldism
HP:0100694 Tibial torsion
HP:0005632 Absent forearm
HP:0010723 Cystic lesions of the pinnae
HP:0000993 Molluscoid pseudotumors
HP:0007713 Juvenile zonular cataracts
HP:0008410 Subungual hyperkeratotic fragments
HP:0010667 Aplasia of the maxilla
HP:0011951 Aspiration pneumonia
HP:0002882 Sudden episodic apnea
HP:0030919 Low 5-minute APGAR score
HP:0010625 Anterior pituitary dysgenesis
HP:0011511 Macular schisis
HP:0010413 Aplasia/Hypoplasia of the distal phalanx of the 2nd toe
HP:0003733 Thigh hypertrophy
HP:0040078 Axonal degeneration
HP:0006521 Pulmonary lymphangiectasia
HP:0011359 Dry hair
HP:0006808 Cerebral hypomyelination
HP:0006958 Abnormal auditory evoked potentials
HP:0009974 Partial duplication of the phalanges of the 4th finger
HP:0008005 Congenital corneal dystrophy
HP:0025105 Nevus anemicus
HP:0006645 Thin clavicles
HP:0100469 Patchy sclerosis of the distal phalanx of the 5th toe
HP:0001995 Hyperchloremic acidosis
HP:0009287 Curved middle phalanx of the 4th finger
HP:0003988 Long ulna
HP:0009092 Progressive alveolar ridge hypertropy
HP:0003332 Absent primary metaphyseal spongiosa
HP:0007494 Discrete 2 to 5-mm hyper- and hypopigmented macules
HP:0002046 Heat intolerance
HP:0012494 Anterior cerebral artery stenosis
HP:0009315 Triangular shaped proximal phalanx of the 4th finger
HP:0010655 Epiphyseal stippling
HP:0100961 Enlarged hippocampus
HP:0001772 Talipes equinovalgus
HP:0010720 Abnormal hair pattern
HP:0006109 Absent phalangeal crease
HP:0045074 Thin eyebrow
HP:0011284 Short-segment aganglionic megacolon
HP:0030301 Abnormality of the anterior commissure
HP:0004244 Accessory scaphoid
HP:0010484 Hypertrophy of the upper limb
HP:0005999 Ureteral atresia
HP:0009308 Symphalangism of middle phalanx of 4th finger
HP:0100054 Triangular epiphyses of the 2nd toe
HP:0000160 Narrow mouth
HP:0100237 Proximal foot symphalangism
HP:0008440 C1-C2 vertebral abnormality
HP:0004924 Abnormal oral glucose tolerance
HP:0001446 Abnormality of the musculature of the upper limbs
HP:0100057 Cone-shaped epiphyses of the 3rd toe
HP:0011990 Abnormality of neutrophil physiology
HP:0012309 Cutaneous amyloidosis
HP:0012272 J wave
HP:0001713 Abnormality of cardiac ventricle
HP:0012421 Congenital absence of foreskin
HP:0007371 Corpus callosum atrophy
HP:0003647 Electron transfer flavoprotein-ubiquinone oxidoreductase defect
HP:0009652 Bullet-shaped thumb phalanx
HP:0009380 Aplasia of the fingers
HP:0003300 Ovoid vertebral bodies
HP:0010105 Short first metatarsal
HP:0004273 Cupped metaphyses of hand bones
HP:0011328 Abnormality of fontanelles
HP:0008046 Abnormality of the retinal vasculature
HP:0008358 Hyperprolinemia
HP:0003574 Positive regitine blocking test
HP:0006337 Premature eruption of permanent teeth
HP:0025344 Interlobular bile duct destruction
HP:0100887 Abnormality of globe size
HP:0011309 Tapered toe
HP:0008513 Bilateral conductive hearing impairment
HP:0004594 Hump-shaped mound of bone in central and posterior portions of vertebral endplate
HP:0008435 Absent in utero ossification of vertebral bodies
HP:0007903 Paravenous chorioretinal atrophy
HP:0410014 Abnormality of ganglion
HP:0009331 Triangular epiphysis of the middle phalanx of the 3rd finger
HP:0012206 Abnormal sperm motility
HP:0009758 Pyramidal skinfold extending from the base to the top of the nails
HP:0010542 Vestibular nystagmus
HP:0012422 Villous hypertrophy of choroid plexus
HP:0001601 Laryngomalacia
HP:0012864 Abnormal sperm morphology
HP:0007178 Motor polyneuropathy
HP:0010275 Pseudoepiphyses of the proximal phalanges of the hand
HP:0012326 Abnormality of the celiac artery
HP:0003765 Psoriasis
HP:0011243 Abnormality of inferior crus of antihelix
HP:0100042 Broad 4th toe
HP:0030198 Fatigable weakness of distal limb muscles
HP:0003234 Decreased plasma carnitine
HP:0007027 Poorly formed metencephalon
HP:0001193 Ulnar deviation of the hand or of fingers of the hand
HP:0001677 Coronary artery disease
HP:0010303 Abnormality of the spinal meninges
HP:0006280 Chronic pancreatitis
HP:0004347 Weakness of muscles of respiration
HP:0003912 Frayed humeral metaphyses
HP:0012024 Hypergalactosemia
HP:0001717 Coronary artery calcification
HP:0000394 Lop ear
HP:0009482 Proximal/middle symphalangism of 3rd finger
HP:0040253 Increased size of the clitoris
HP:0005524 Macrocytic hemolytic disease
HP:0008113 Multiple plantar creases
HP:0004381 Supravalvular aortic stenosis
HP:0030859 Topoisomerase I antibody positivity
HP:0005176 Dysplastic aortic valve
HP:0100579 Mucosal telangiectasiae
HP:0010121 Small epiphyses of the hallux
HP:0010598 Abnormality of the proximal humeral epiphysis
HP:0003901 Stippled calcification of the humeral epiphyses
HP:0007770 Hypoplasia of the retina
HP:0000668 Hypodontia
HP:0011215 Hemihypsarrhythmia
HP:0040099 Abnormality of the round window
HP:0008056 Aplasia/Hypoplasia affecting the eye
HP:0001340 Enhancement of the C-reflex
HP:0009540 Contracture of the proximal interphalangeal joint of the 2nd finger
HP:0002920 Decreased circulating ACTH level
HP:0025064 Thalamic hemorrhage
HP:0006134 Enlarged metacarpal epiphyses
HP:0001362 Calvarial skull defect
HP:0000076 Vesicoureteral reflux
HP:0000164 Abnormality of the teeth
HP:0011697 Supraventricular tachycardia with a manifest accessory pathway on the right free wall
HP:0000756 Agoraphobia
HP:0200025 Mandibular pain
HP:0030266 Abnormality of the sacroiliac notch
HP:0003238 Hyperpepsinogenemia I
HP:0002032 Esophageal atresia
HP:0012062 Bone cyst
HP:0003438 Absent Achilles reflex
HP:0007250 Recurrent external ophthalmoplegia
HP:0010955 Dilatation of the bladder
HP:0040223 Intrapulmonary hemorrhage
HP:0004373 Focal dystonia
HP:0000479 Abnormality of the retina
HP:0040048 Aplasia of the left hemidiaphragm
HP:0010965 Abnormality of phytanic acid metabolism
HP:0008788 Delayed pubic bone ossification
HP:0030934 Oral erythroplakia
HP:0002362 Shuffling gait
HP:0030680 Abnormality of cardiovascular system morphology
HP:0100097 Abnormality of the epiphysis of the distal phalanx of the 5th toe
HP:0001802 Absent toenail
HP:0009953 Partial duplication of the middle phalanx of the 2nd finger
HP:0002223 Absent eyebrow
HP:0008059 Aplasia/Hypoplasia of the macula
HP:0100199 Small epiphysis of the proximal phalanx of the 4th toe
HP:0012168 Head-banging
HP:0011848 Abdominal colic
HP:0009508 Ivory epiphysis of the distal phalanx of the 2nd finger
HP:0030541 Unaided visual acuity 0.6 LogMAR
HP:0005855 Multiple prenatal fractures
HP:0003304 Spondylolysis
HP:0009210 Pseudoepiphysis of the middle phalanx of the 5th finger
HP:0025259 Stiff elbow
HP:0005602 Progressive vitiligo
HP:0006571 Reduced number of intrahepatic bile ducts
HP:0010132 Irregular epiphysis of the proximal phalanx of the hallux
HP:0003027 Mesomelia
HP:0009587 Triangular shaped proximal phalanx of the 2nd finger
HP:0100902 Sclerosis of the distal phalanx of the 4th finger
HP:0009387 Irregular epiphyses of the 5th finger
HP:0005472 Orbital craniosynostosis
HP:0007054 Hyperreflexia proximally
HP:0002357 Dysphasia
HP:0005177 Premature arteriosclerosis
HP:0007774 Hypoplasia of the ciliary body
HP:0008020 Progressive cone degeneration
HP:0000826 Precocious puberty
HP:0008079 Absent fifth metatarsal
HP:0011836 Delayed talus ossification
HP:0005605 Large cafe-au-lait macules with irregular margins
HP:0030603 Abnormal optical coherence tomography
HP:0011238 Prominent inferior crus of antihelix
HP:0001196 Short umbilical cord
HP:0001146 Pigmentary retinal degeneration
HP:0010135 Small epiphysis of the proximal phalanx of the hallux
HP:0006019 Reduced proximal interphalangeal joint space
HP:0010888 Morbus Koehler
HP:0002930 Thyroid hormone receptor defect
HP:0007548 Palmoplantar keratosis with erythema and scale
HP:0012502 Abnormality of the internal capsule
HP:0009303 Osteolytic defects of the distal phalanx of the 4th finger
HP:0005844 Rounded middle phalanx of finger
HP:0005764 Polyarticular arthritis
HP:0003969 Slender forearm bones
HP:0006532 Recurrent pneumonia
HP:0005050 Anterolateral radial head dislocation
HP:0004313 Decreased antibody level in blood
HP:0000577 Exotropia
HP:0011843 Abnormality of skeletal physiology
HP:0030243 Hepatic vein thrombosis
HP:0005335 Sleepy facial expression
HP:0008509 Aged leonine appearance
HP:0003312 Abnormal form of the vertebral bodies
HP:0010128 Bracket epiphysis of the proximal phalanx of the hallux
HP:0007549 Desquamation of skin soon after birth
HP:0007607 Hypohidrotic ectodermal dysplasia
HP:0030757 Tooth abscess
HP:0001987 Hyperammonemia
HP:0012755 Enlarged brainstem
HP:0004342 Abnormality of galactoside metabolism
HP:0005162 Left ventricular failure
HP:0012339 Increased resting energy expenditure
HP:0030339 Decreased circulating gonadotropin level
HP:0025276 Abnormality of skin adnexa physiology
HP:0430020 Abnormality of levator labii superioris alaeque nasi muscle
HP:0030355 Abnormal serum interferon-gamma level
HP:0001488 Bilateral ptosis
HP:0009330 Stippling of the epiphysis of the middle phalanx of the 3rd finger
HP:0009634 Patchy sclerosis of the proximal phalanx of the thumb
HP:0005825 Mixed sclerosis of humeral metaphyses
HP:0003436 Prolonged miniature endplate currents
HP:0100779 Urogenital sinus anomaly
HP:0003206 Decreased activity of NADPH oxidase
HP:0012415 Abnormal blood gas level
HP:0011026 Aplasia/Hypoplasia of the vagina
HP:0002323 Anencephaly
HP:0009264 Enlarged epiphysis of the proximal phalanx of the 4th finger
HP:0012180 Cystic medial necrosis
HP:0006454 Delayed patellar ossification
HP:0009671 Pseudoepiphysis of the proximal phalanx of the thumb
HP:0002650 Scoliosis
HP:0012608 Hypermagnesiuria
HP:0025253 Claustrophobia
HP:0000127 Renal salt wasting
HP:0003998 Constricted radial neck
HP:0000924 Abnormality of the skeletal system
HP:0000650 Abnormal amplitude of pattern reversal visual evoked potentials
HP:0010592 Abnormality of the distal tibial epiphysis
HP:0045048 Increased HbA2 hemoglobin
HP:0100041 Broad 3rd toe
HP:0012361 Increased fucosylation of O-linked protein glycosylation
HP:0040144 L-2-hydroxyglutaric aciduria
HP:0007215 Periodic hyperkalemic paralysis
HP:0200011 Abnormal length of corpus callosum
HP:0011801 Enlargement of parotid gland
HP:0009234 Symphalangism of the proximal phalanx of the 5th finger with the 5th metatcarpal
HP:0011727 Peroneal muscle weakness
HP:0002781 Upper airway obstruction
HP:0012269 Abnormal muscle glycogen content
HP:0010416 Curved distal phalanx of the 2nd toe
HP:0100763 Abnormality of the lymphatic system
HP:0040205 Decreased CSF neopterin level
HP:0100061 Ivory epiphyses of the 3rd toe
HP:0100169 Absent epiphysis of the distal phalanx of the 4th toe
HP:0004611 Anterior concavity of thoracic vertebrae
HP:0003231 Hypertyrosinemia
HP:0040043 Hypoplasia of the eccrine sweat glands
HP:0007380 Facial telangiectasia
HP:0005249 Functional intestinal obstruction
HP:0009023 Abdominal wall muscle weakness
HP:0100094 Abnormality of the epiphysis of the distal phalanx of the 4th toe
HP:0000389 Chronic otitis media
HP:0011218 Abnormal shape of the frontal region
HP:0008096 Medially deviated second toe
HP:0012245 Sex reversal
HP:0012319 Absent pigmentation of the abdomen
HP:0100940 Sclerosis of the distal phalanx of the 3rd toe
HP:0030085 Abnormal CSF lactate level
HP:0009374 Broad phalanges of the 5th finger
HP:0003914 Irregular ossification of humeral metaphyses
HP:0011609 Type III truncus arteriosus
HP:0030720 Subchorionic septal cyst
HP:0004799 Jejunoileal diverticula
HP:0012883 Fallopian tube cyst
HP:0003966 Sclerotic foci in forearm bones
HP:0005359 Aplasia of the thymus
HP:0030368 Hyperphalangy of the 2nd finger
HP:0025095 Sneeze
HP:0009425 Patchy sclerosis of the distal phalanx of the 3rd finger
HP:0012536 Maternal anticardiolipin antibody positive
HP:0011815 Cephalocele
HP:0012672 Akinetic mutism
HP:0100814 Blue nevus
HP:0012232 Shortened QT interval
HP:0100266 Synostosis of carpals/tarsals
HP:0006481 Abnormality of primary teeth
HP:0006683 Abnormal ventricular filling
HP:0030613 Abnormal foveal morphology on macular OCT
HP:0009815 Aplasia/hypoplasia of the extremities
HP:0012520 Perivascular spaces
HP:0012493 Middle cerebral artery stenosis
HP:0040110 Morphological abnormality of the saccule
HP:0010392 Abnormality of the distal phalanx of the 5th toe
HP:0000716 Depression
HP:0010657 Patchy reduction of bone mineral density
HP:0009147 Enlarged epiphysis of the distal phalanx of the 5th finger
HP:0010789 Abnormality of the Leydig cells
HP:3000059 Abnormality of inferior thyroid vein
HP:0045075 Sparse eyebrow
HP:0002945 Intervertebral space narrowing
HP:0002380 Fasciculations
HP:0030245 Intrapartum fever
HP:0002036 Hiatus hernia
HP:0040141 Tardive dyskinesia
HP:0008470 Lower thoracic interpediculate narrowness
HP:0100912 Sclerosis of the distal phalanx of the thumb
HP:0009826 Limb undergrowth
HP:0030530 Arcuate scotoma
HP:0010087 Bullet-shaped proximal phalanx of the hallux
HP:0002623 Overriding aorta
HP:0002938 Lumbar hyperlordosis
HP:0010772 Anomalous pulmonary venous return
HP:0004004 Irregular radial epiphyses
HP:0030789 Excessive cerumen
HP:0030475 Abnormal timing of dark-adapted dim flash electroretinogram
HP:0100906 Sclerosis of the middle phalanx of the 4th finger
HP:0000306 Abnormality of the chin
HP:0001581 Recurrent skin infections
HP:0012386 Absent hallux
HP:0000336 Prominent supraorbital ridges
HP:0200015 Symmetric great toe depigmentation
HP:0011072 Rootless teeth
HP:0007372 Atrophy/Degeneration involving the corticospinal tracts
HP:0008648 Anteriorly displaced urethral meatus
HP:0001520 Large for gestational age
HP:0000470 Short neck
HP:0003933 Sclerosis of humeral diaphysis
HP:0007299 Dysfunction of lateral corticospinal tracts
HP:0004510 Pancreatic islet-cell hyperplasia
HP:0006257 Abnormality of carpal bone ossification
HP:0004406 Spontaneous, recurrent epistaxis
HP:0005639 Hyperextensible hand joints
HP:3000071 Abnormality of levator labii superioris
HP:0009188 Pseudoepiphysis of the distal phalanx of the 5th finger
HP:0011598 Right aortic arch with retroesophageal left subclavian artery
HP:0025093 Peripapillary exudate
HP:0008081 Pes valgus
HP:0001489 Posterior vitreous detachment
HP:0001917 Renal amyloidosis
HP:0006035 Cone-shaped epiphyses of phalanges 2 to 5
HP:0010960 Bronchopulmonary sequestration
HP:0430021 Abnormality of the common carotid artery
HP:0001305 Dandy-Walker malformation
HP:0004825 Increased hemoglobin oxygen affinity
HP:0100109 Stippling of the epiphysis of the distal phalanx of the 2nd toe
HP:0002028 Chronic diarrhea
HP:0006894 Hypoplastic olfactory lobes
HP:0001212 Prominent fingertip pads
HP:0100313 Cerebral granulomatosis
HP:0003223 Decreased methylcobalamin
HP:0010742 Edema of the upper limbs
HP:0007992 Lattice retinal degeneration
HP:0006517 Alveolar proteinosis
HP:0030023 Quelprud Nodule
HP:0030272 Abnormal erythrocyte enzyme activity
HP:0003840 Delayed upper limb epiphyseal ossification
HP:0012655 Elevated CSF dopamine level
HP:0005264 Abnormality of the gallbladder
HP:0010378 Triangular shaped phalanges of the 4th toe
HP:0100594 Esophageal web
HP:0002907 Microscopic hematuria
HP:0001469 Abnormality of the musculature of the pelvis
HP:0000064 Hypoplastic labia minora
HP:0001694 Right-to-left shunt
HP:0003885 Undermodeled humerus
HP:0008011 Peripheral opacification of the cornea
HP:0012481 Cerebral venous angioma
HP:0005332 Recurrent mandibular subluxations
HP:0030878 Abnormality on pulmonary function testing
HP:0011519 Anomalous trichromacy
HP:0009999 Partial duplication of the phalanx of hand
HP:0030037 Bifid ureter
HP:0011479 Abnormality of the lacrimal punctum
HP:0009063 Progressive distal muscle weakness
HP:0005424 Absent specific antibody response
HP:0001181 Adducted thumb
HP:0011227 Elevated C-reactive protein level
HP:0009072 Decreased Achilles reflex
HP:0000436 Abnormality of the nasal tip
HP:0003254 Abnormality of DNA repair
HP:0012871 Varicocele
HP:0008178 Abnormal cartilage matrix
HP:0010005 Partial duplication of the middle phalanges of the hand
HP:0009644 Curved distal phalanx of the thumb
HP:0008125 Second metatarsal posteriorly placed
HP:0100026 Arteriovenous malformation
HP:0012879 Anejaculation
HP:0012820 Bilateral vocal cord paralysis
HP:0001692 Primary atrial arrhythmia
HP:0004458 Dilatated internal auditory canal
HP:0011628 Congenital defect of the pericardium
HP:0012171 Stereotypical hand wringing
HP:0004248 Abnormality of the lunate bone
HP:0100267 Lip pit
HP:0030528 Paracentral scotoma
HP:0009175 Patchy sclerosis of the middle phalanx of the 5th finger
HP:0000290 Abnormality of the forehead
HP:0009415 Irregular epiphyses of the 3rd finger
HP:0030907 Thunderclap headache
HP:0002153 Hyperkalemia
HP:0005258 Pectoral muscle hypoplasia/aplasia
HP:0010771 Pilonidal abscess
HP:0011897 Neutrophillia
HP:0100198 Pseudoepiphysis of the proximal phalanx of the 4th toe
HP:0004015 Abnormality of radial metaphyses
HP:0005671 Bilateral intracranial calcifications
HP:0009407 Triangular shaped phalanges of the 4th finger
HP:0008978 Necrotizing myopathy
HP:0008231 Macronodular adrenal hyperplasia
HP:0009452 Curved proximal phalanx of the 3rd finger
HP:0100856 Poorly ossified vertebrae
HP:0030468 Abnormal multifocal electroretinogram
HP:0011546 Abnormal atrioventricular connection
HP:0004736 Crossed fused renal ectopia
HP:0040131 Abnormal motor nerve conduction velocity
HP:0004993 Slender long bones with narrow diaphyses
HP:0012223 Splenic rupture
HP:0007387 Hypoplastic sweat glands
HP:0011536 Right atrial isomerism
HP:0006431 Proximal femoral metaphyseal abnormality
HP:0001899 Increased hematocrit
HP:0003023 Bowing of limbs due to multiple fractures
HP:0030574 Pinhole visual acuity 0.6 LogMAR
HP:0012618 Urachal cyst
HP:0030251 Absence of memory B cells
HP:0008167 Very long chain fatty acid accumulation
HP:0012463 Elevated transferrin saturation
HP:0006161 Short metacarpals with rounded proximal ends
HP:0006397 Lateral displacement of patellae
HP:0000093 Proteinuria
HP:0007370 Aplasia/Hypoplasia of the corpus callosum
HP:0000235 Abnormality of the fontanelles or cranial sutures
HP:0200000 Dysharmonic bone age
HP:0004216 Osteolytic defects of the phalanges of the 5th finger
HP:0030854 Scleral staphyloma
HP:0010085 Aplasia/Hypoplasia of the proximal phalanx of the hallux
HP:0005343 Hypoplasia of the bladder
HP:0030087 Abnormal serum testosterone level
HP:0007267 Chronic axonal neuropathy
HP:0005951 Progressive inspiratory stridor
HP:0030564 Best corrected visual acuity 1.1 LogMAR
HP:0030125 Sacralization of the fifth lumbar vertebra
HP:0006544 Extrapulmonary sequestrum
HP:0000653 Sparse eyelashes
HP:0007975 Hypometric horizontal saccades
HP:0000759 Abnormal peripheral nervous system morphology
HP:0012623 Stage 1 chronic kidney disease
HP:0007240 Progressive gait ataxia
HP:0009580 Aplasia/Hypoplasia of the proximal phalanx of the 2nd finger
HP:0010531 Spinal myoclonus
HP:3000005 Abnormality of masseter muscle
HP:0009465 Ulnar deviation of finger
HP:0007633 Bilateral microphthalmos
HP:0001332 Dystonia
HP:0003975 Chevron-shaped/cone-shaped radius
HP:0004906 Hypernatremic dehydration
HP:0011898 Abnormality of circulating fibrinogen
HP:0200049 Upper limb hypertonia
HP:0007473 Crusting erythematous dermatitis
HP:0030710 Lipomeningocele
HP:0011480 Unilateral microphthalmos
HP:0009288 Curved proximal phalanx of the 4th finger
HP:0001336 Myoclonus
HP:0002461 Dense calcifications in the cerebellar dentate nucleus
HP:0003651 Foam cells
HP:0001017 Anemic pallor
HP:0003185 Short sacroiliac notch
HP:0009237 Short 5th finger
HP:0008336 Complex organic aciduria
HP:0030511 Bradyopsia
HP:0010610 Palmar pits
HP:0011388 Enlarged cochlear aqueduct
HP:0030525 Peripheral visual field constriction with 20-30 degrees central field preserved
HP:0010008 Duplication of the middle phalanx of hand
HP:0009422 Broad distal phalanx of the 3rd finger
HP:0000411 Protruding ear
HP:0004239 Proximally placed carpal bones
HP:0007360 Aplasia/Hypoplasia of the cerebellum
HP:0011861 Bilateral trilobed lungs
HP:0005832 Dysharmonic delayed bone age
HP:0012767 Abnormal placental size
HP:0007190 Neuronal loss in the cerebral cortex
HP:0012441 Sphincter of Oddi dyskinesia
HP:0025338 Circumlimbal hyperemia
HP:0000482 Microcornea
HP:0005871 Metaphyseal chondrodysplasia
HP:0100444 Curved middle phalanx of the 4th toe
HP:0002085 Occipital encephalocele
HP:0011183 EEG with hyperventilation-induced focal epileptiform discharges
HP:0005291 Inflammatory arteriopathy
HP:0100303 Muscle fiber cytoplasmatic inclusion bodies
HP:0003041 Humeroradial synostosis
HP:0000855 Insulin resistance
HP:0011913 Lumbar hypertrichosis
HP:0100588 Paraphimosis
HP:0006992 Anterior basal encephalocele
HP:3000058 Abnormality of inferior rectus extraocular muscle
HP:0001662 Bradycardia
HP:0004631 Decreased cervical spine flexion due to contractures of posterior cervical muscles
HP:0001681 Angina pectoris
HP:0001060 Axillary pterygia
HP:0000021 Megacystis
HP:0003361 Tryptophanuria
HP:0012008 Illusory auras
HP:0012712 Mild hearing impairment
HP:0002080 Intention tremor
HP:0007898 Exudative retinopathy
HP:0002448 Progressive encephalopathy
HP:0005413 Increased alpha-globulin
HP:0011305 Partial absence of toe
HP:0000366 Abnormality of the nose
HP:0004581 Increased anterior vertebral height
HP:0005037 Proximal radio-ulnar synostosis
HP:0025190 Generalized tonic-clonic seizures without focal onset
HP:0002883 Hyperventilation
HP:0008968 Muscle hypertrophy of the lower extremities
HP:0030594 Abnormal automated kinetic perimetry test
HP:0012348 Decreased galactosylation of N-linked protein glycosylation
HP:0030610 Photoreceptor outer segment loss on macular OCT
HP:0001889 Megaloblastic anemia
HP:0030182 Tetraplegia/tetraparesis
HP:0005005 Femoral bowing present at birth, straightening with time
HP:0002047 Malignant hyperthermia
HP:0000239 Large fontanelles
HP:0003693 Distal amyotrophy
HP:0003874 Humerus varus
HP:0045007 Abnormality of the substantia nigra
HP:0000079 Abnormality of the urinary system
HP:0010798 Lip freckle
HP:0007430 Generalized edema
HP:0004369 Decreased purine levels
HP:0004913 Intermittent lactic acidemia
HP:0011907 Reduced alpha/beta synthesis ratio
HP:0001670 Asymmetric septal hypertrophy
HP:0005428 Severe recurrent varicella
HP:0002396 Cogwheel rigidity
HP:0003256 Abnormality of the coagulation cascade
HP:0005910 Rhomboid or triangular shaped 5th finger middle phalanx
HP:0000071 Ureteral stenosis
HP:0001719 Double outlet right ventricle
HP:0008777 Abnormality of the vocal cords
HP:0003894 Delayed humeral epiphyseal ossification
HP:0011773 Uninodular goiter
HP:0030449 Therapeutic abortion
HP:0012725 Cutaneous syndactyly
HP:0009848 Patchy sclerosis of middle phalanx of finger
HP:0030347 Abnormal circulating androgen level
HP:0010664 Fusion of the left and right thalami
HP:0006583 Fatal liver failure in infancy
HP:0000264 Abnormality of the mastoid
HP:0030505 Nummular pigmentation of the retina
HP:0005502 Increased red cell osmotic fragility
HP:0004481 Progressive macrocephaly
HP:0011209 EEG with generalized slow activity grade 4
HP:0030338 Abnormal circulating gonadotropin level
HP:0005001 Recurrent patellar dislocation
HP:0002790 Neonatal breathing dysregulation
HP:0009784 Aplasia/Hypoplasia of the triceps
HP:0003411 Proximal femoral metaphyseal irregularity
HP:0004039 Abnormality of ulnar metaphysis
HP:0010433 Short distal phalanx of the 2nd toe
HP:0006879 Pontocerebellar atrophy
HP:0012426 Optic disc drusen
HP:0011621 Gerbode ventricular septal defect
HP:0025335 Delayed ability to stand
HP:0000171 Microglossia
HP:0009806 Nephrogenic diabetes insipidus
HP:0008176 Neonatal unconjugated hyperbilirubinemia
HP:0008829 Delayed femoral head ossification
HP:0011627 Aorto-ventricular tunnel
HP:0010883 Aortic valve atresia
HP:0004209 Clinodactyly of the 5th finger
HP:0012278 Abnormality of serine metabolism
HP:0000969 Edema
HP:0002225 Sparse pubic hair
HP:0030354 Abnormal serum interferon level
HP:0010659 Patchy variation in bone mineral density
HP:0001575 Mood changes
HP:0004571 Widening of cervical spinal canal
HP:0006150 Swan neck-like deformities of the fingers
HP:0009987 Partial duplication of the phalanges of the 5th finger
HP:0000198 Absence of Stensen duct
HP:3000036 Abnormality of head blood vessel
HP:0009501 Abnormality of the epiphysis of the proximal phalanx of the 2nd finger
HP:0030563 Best corrected visual acuity 1.0 LogMAR
HP:0003992 Slender ulna
HP:0000326 Abnormality of the maxilla
HP:0002453 Abnormality of the globus pallidus
HP:0000717 Autism
HP:0010318 Aplasia/Hypoplasia of the abdominal wall musculature
HP:0006606 Irregular chondrocostal junctions
HP:0011399 Tibialis atrophy
HP:0000506 Telecanthus
HP:0000098 Tall stature
HP:0005181 Premature coronary artery disease
HP:0003952 Sclerotic foci of metaphyses of the elbow
HP:0006160 Irregular metacarpals
HP:0025350 Giant conjunctival papillae
HP:0009379 Rhomboid or triangular shaped 5th finger distal phalanx
HP:0005696 Postaxial polydactyly type A
HP:0000705 Amelogenesis imperfecta
HP:0008490 Sacral segmentation defect
HP:0012537 Food intolerance
HP:0011314 Abnormality of long bone morphology
HP:0010457 Widening of the sacrosciatic notch
HP:0009383 Bracket epiphyses of the 5th finger
HP:0006006 Hypotrophy of the small hand muscles
HP:0001384 Abnormality of the hip joint
HP:0002729 Follicular hyperplasia
HP:0100259 Postaxial polydactyly
HP:0025132 Abnormal circulating estrogen level
HP:0009159 Small epiphysis of the proximal phalanx of the 5th finger
HP:0100139 Fragmentation of the epiphysis of the distal phalanx of the 3rd toe
HP:0009182 Triangular shaped middle phalanx of the 5th finger
HP:0010528 Prosopagnosia
HP:0004492 Widely patent fontanelles and sutures
HP:0003459 Polyclonal elevation of IgM
HP:0011154 Focal autonomic seizures
HP:0200012 Short corpus callosum
HP:0030529 Ring scotoma
HP:0009056 Loss of subcutaneous adipose tissue from upper limbs
HP:0008259 Adrenocorticotropin receptor defect
HP:0007657 Diffuse nuclear cataract
HP:0007807 Optic nerve compression
HP:0010913 Hyperisoleucinemia
HP:0001946 Ketosis
HP:0100322 Aplasia of the pyramidal tract
HP:0010361 Bullet-shaped 3rd toe phalanx
HP:0100284 EMG: myotonic discharges
HP:0025113 Misophonia
HP:0002640 Hypertension associated with pheochromocytoma
HP:0011881 Decreased platelet glycoprotein VI
HP:0011608 Type II truncus arteriosus
HP:0009253 Enlarged epiphysis of the distal phalanx of the 4th finger
HP:0003841 Fragmented epiphyses of the upper limbs
HP:0008850 Severe postnatal growth retardation
HP:0011212 EEG with photoparoxysmal response grade II
HP:0007100 Progressive ventriculomegaly
HP:0045018 Partial duplication of eyebrows
HP:0012104 Parietal cortical atrophy
HP:0030777 Modic type II vertebral endplate changes
HP:0012369 Abnormality of malar bones
HP:0011386 Narrow internal auditory canal
HP:0011374 Incomplete partition of the cochlea type I
HP:0030378 Decreased immature B cell count
HP:0003477 Peripheral axonal neuropathy
HP:0001093 Optic nerve dysplasia
HP:0100268 Upper lip pit
HP:0002616 Aortic root dilatation
HP:0001964 Aplasia/Hypoplasia of metatarsal bones
HP:0006282 Generalized hypoplasia of dental enamel
HP:0011706 Second degree atrioventricular block
HP:0004980 Metaphyseal rarefaction
HP:0004356 Abnormality of lysosomal metabolism
HP:0005297 Premature occlusive vascular disease
HP:0000725 Psychotic episodes
HP:0100440 Bullet-shaped distal phalanx of the 3rd toe
HP:0010102 Aplasia of the distal phalanx of the hallux
HP:0009453 Osteolytic defects of the proximal phalanx of the 3rd finger
HP:0010271 Enlarged epiphyses of the proximal phalanges of the hand
HP:0040171 Decreased serum testosterone level
HP:0000859 Hyperaldosteronism
HP:0010021 Ivory epiphysis of the 1st metacarpal
HP:0009169 Broad middle phalanx of the 5th finger
HP:0004446 Stomatocytosis
HP:0025051 Reduced brain creatine level by MRS
HP:0012038 Corneal guttata
HP:0010753 Midline defect of mandible
HP:0030762 Mesangiolysis
HP:0030134 Total absence von Willebrand factor multimers
HP:0010636 Schizencephaly
HP:0010064 Symphalangism affecting the phalanges of the hallux
HP:0012594 Microalbuminuria
HP:0025048 Reduced brain choline level by MRS
HP:0001841 Preaxial foot polydactyly
HP:0200116 Distal ileal atresia
HP:0008589 Hypoplastic helices
HP:0000207 Triangular mouth
HP:0002376 Developmental regression
HP:0001789 Hydrops fetalis
HP:0009956 Partial duplication of the phalanges of the 2nd finger
HP:0200084 Giant cell hepatitis
HP:0030203 Unfavorable response of muscle weakness to acetylcholine esterase inhibitors
HP:0006176 Two carpal ossification centers present at birth
HP:0007153 Progressive extrapyramidal movement disorder
HP:0011668 Bilateral superior vena cava with no bridging vein
HP:0009183 Joint contracture of the 5th finger
HP:0012584 Bilateral renal hypoplasia
HP:0006228 Valgus hand deformity
HP:0002143 Abnormality of the spinal cord
HP:0007728 Congenital miosis
HP:0001348 Brisk reflexes
HP:0030363 Primary Caesarian section
HP:0011860 Metaphyseal dappling
HP:0012204 Recurrent vulvovaginal candidiasis
HP:0003025 Metaphyseal irregularity
HP:0001848 Calcaneovalgus deformity
HP:0010172 Triangular epiphyses of the toes
HP:0009512 Triangular epiphysis of the distal phalanx of the 2nd finger
HP:0025040 Thalamic edema
HP:0009788 Quadriceps aplasia
HP:0012334 Extrahepatic cholestasis
HP:0006644 Thoracic dysplasia
HP:0030324 Bilateral vertebral artery hypoplasia
HP:0005364 Severe viral infections
HP:0007792 Microsaccadic pursuit
HP:0200046 Cat cry
HP:0008772 Aplasia/Hypoplasia of the external ear
HP:0030168 Dilated superficial abdominal veins
HP:0000474 Thickened nuchal skin fold
HP:0010683 Low tissue non-specific alkaline phosphatase
HP:0100081 Fragmentation of the epiphyses of the 5th toe
HP:0006699 Premature atrial contractions
HP:0001988 Recurrent hypoglycemia
HP:0040217 Elevated hemoglobin A1c
HP:0030633 Perifoveal ring of hyperautofluorescence surrounded by normal autofluorescence
HP:0010553 Oculogyric crisis
HP:0003655 Reduced activity of N-acetylglucosaminyltransferase II
HP:0007902 Vitreous hemorrhage
HP:0011389 Functional abnormality of the inner ear
HP:0007809 Punctate corneal dystrophy
HP:0003334 Elevated circulating catecholamine level
HP:0010990 Abnormality of the common coagulation pathway
HP:3000023 Abnormality of angular artery
HP:0003895 Flattened humeral epiphyses
HP:0100917 Sclerosis of proximal finger phalanx
HP:0002097 Emphysema
HP:0001328 Specific learning disability
HP:0004258 Small trapezoid bone
HP:0012693 Abnormal thalamic size
HP:0012176 Abnormality of natural killer cells
HP:0011114 Defective production of NFKB1-dependent cytokines
HP:0030124 Reduced muscle fiber lamin A/C
HP:0004704 Short fifth metatarsal
HP:0012340 Decreased resting energy expenditure
HP:0003549 Abnormality of connective tissue
HP:0005613 Aplasia/hypoplasia of the femur
HP:0008352 Impaired platelet adhesion
HP:0010821 Gelastic seizures
HP:0003049 Ulnar deviation of the wrist
HP:0003559 Muscle hyperirritability
HP:0004010 Small radial epiphyses
HP:0011464 Aganglionosis of the small intestine
HP:0000180 Lobulated tongue
HP:0000600 Abnormality of the pharynx
HP:0001287 Meningitis
HP:0012164 Asterixis
HP:0002330 Paroxysmal drowsiness
HP:0006693 Myocardial steatosis
HP:0009142 Duplication of bones involving the upper extremities
HP:0030293 Fibular metaphyseal irregularity
HP:0007721 Saccular conjunctival aneurysms
HP:0011074 Localized hypoplasia of dental enamel
HP:0011429 Short fetal humerus length
HP:0012796 Increased cup-to-disc ratio
HP:0011610 Type IV truncus arteriosus
HP:0011168 Eyelid myoclonias
HP:0100716 Self-injurious behavior
HP:0006932 Transient psychotic episodes
HP:0008047 Abnormality of the vasculature of the eye
HP:0011693 Supraventricular tachycardia with a concealed accessory pathway on the septum
HP:0030208 Acetylcholine receptor antibody positivity
HP:0000659 Peters anomaly
HP:0000971 Abnormality of the sweat gland
HP:0001310 Dysmetria
HP:0100421 Partial duplication of the middle phalanx of the 5th toe
HP:0100130 Small epiphysis of the proximal phalanx of the 2nd toe
HP:0011112 Abnormality of serum cytokine level
HP:0006014 Abnormally shaped carpal bones
HP:0003269 Sudanophilic leukodystrophy
HP:0100358 Contracture of the metatarsophalangeal joint of the 4th toe
HP:0000232 Everted lower lip vermilion
HP:3000012 Abnormality of palatopharyngeus muscle
HP:0002171 Gliosis
HP:0002186 Apraxia
HP:0006539 Bronchial cartilage hypoplasia
HP:0012186 Entrapment neuropathy of the ulnar nerve at elbow
HP:0001468 Aplasia/Hypoplasia involving the musculature of the upper arm
HP:0010248 Cone-shaped epiphyses of the distal phalanges of the hand
HP:0011539 Atrial situs ambiguous
HP:0011134 Low-grade fever
HP:0011344 Severe global developmental delay
HP:0100524 Limb duplication
HP:0011203 EEG with abnormally slow frequencies
HP:0030480 Abnormal timing of light-adapted flicker electroretinogram
HP:0008717 Unilateral renal atrophy
HP:0001449 Duplication of metatarsal bones
HP:0006335 Persistence of primary teeth
HP:0004602 Cervical C2/C3 vertebral fusion
HP:0010390 Triangular shaped phalanges of the 5th toe
HP:0001629 Ventricular septal defect
HP:0009906 Aplasia/Hypoplasia of the earlobes
HP:0001350 Slurred speech
HP:0004870 Chronic hemolytic anemia
HP:0010010 Abnormality of the 2nd metacarpal
HP:0008529 Absence of acoustic reflex
HP:0005449 Bridged sella turcica
HP:0010326 Deviation of the 2nd toe
HP:0004323 Abnormality of body weight
HP:0002072 Chorea
HP:0008080 Hallux varus
HP:0007814 Retinal pigment epithelial mottling
HP:0009489 Bracket epiphyses of the 2nd finger
HP:0100220 Pseudoepiphysis of the middle phalanx of the 5th toe
HP:0006872 Cerebral hypoplasia
HP:0006596 Restricted chest movement
HP:0002524 Cataplexy
HP:0010583 Ivory epiphyses
HP:0030562 Best corrected visual acuity 0.9 LogMAR
HP:0100065 Triangular epiphyses of the 3rd toe
HP:0007220 Demyelinating motor neuropathy
HP:0012858 Decreased scrotal rugation
HP:0007165 Periventricular gray matter heterotopia
HP:0001162 Postaxial hand polydactyly
HP:0000083 Renal insufficiency
HP:0009173 Curved middle phalanx of the 5th finger
HP:0001225 Wrist swelling
HP:0009933 Narrow naris
HP:0001408 Bile duct proliferation
HP:0040150 Epiblepharon of upper lid
HP:0003179 Protrusio acetabuli
HP:0005880 Metacarpophalangeal synostosis
HP:0040011 Flat posterior fossa
HP:0025078 Electrical alternans
HP:0000682 Abnormality of dental enamel
HP:0005599 Hypopigmentation of hair
HP:0030745 Ductus arteriosus aneurysm
HP:0012020 Right aortic arch
HP:0002787 Tracheal calcification
HP:0000303 Mandibular prognathia
HP:0011240 Prominent stem of antihelix
HP:0004916 Generalized distal tubular acidosis
HP:0030246 Maternal first trimester fever
HP:0006852 Episodic generalized hypotonia
HP:0001712 Left ventricular hypertrophy
HP:0002818 Abnormality of the radius
HP:0005289 Abnormality of the nasolabial region
HP:0200032 Kayser-Fleischer ring
HP:0011817 Basal encephalocele
HP:0008742 Prominent prostate median bar
HP:0011225 Epiblepharon
HP:0009447 Aplasia/Hypoplasia of the phalanges of the 3rd finger
HP:0012859 Esophageal leukoplakia
HP:0002331 Recurrent paroxysmal headache
HP:0100586 Aseptic leukocyturia
HP:0100719 Lens coloboma
HP:0006329 Alveolar process hypoplasia
HP:0002349 Focal seizures without impairment of consciousness or awareness
HP:0030172 Peripheral amyelination
HP:0008955 Progressive distal muscular atrophy
HP:0009550 Osteolytic defects of the phalanges of the 2nd finger
HP:0009372 Type A2 brachydactyly
HP:0001230 Broad metacarpals
HP:0100624 Corpus cavernosum sclerosis
HP:0011781 Thyroid C cell hyperplasia
HP:0000113 Polycystic kidney dysplasia
HP:0004470 Atretic occipital cephalocele
HP:0000931 Thinning and bulging of the posterior fossa bones
HP:0008281 Acute hyperammonemia
HP:0040249 Reduced plasminogen activator inhibitor 1 antigen
HP:0005339 Abnormality of complement system
HP:0030222 Visual agnosia
HP:0030883 Femoroacetabular Impingement
HP:0012217 Increased urinary porphobilinogen
HP:0030298 Metaphyseal chondromatosis of humerus
HP:0000369 Low-set ears
HP:0007536 Aplasia cutis congenita of midline scalp vertex
HP:0012063 Aneurysmal bone cyst
HP:0100492 Joint contractures involving the joints of the feet
HP:0006107 Fingerpad telangiectases
HP:0000565 Esotropia
HP:0008097 Partial fusion of tarsals
HP:0003731 Quadriceps muscle weakness
HP:0200133 Lumbosacral meningocele
HP:3000032 Abnormality of central retinal artery
HP:0000585 Band keratopathy
HP:0012551 Absent neutrophil specific granules
HP:0010827 Abnormality of the seventh cranial nerve
HP:0003916 Normal-density transverse humeral bands
HP:0000538 Pseudopapilledema
HP:0005747 Easily subluxated first metacarpophalangeal joints
HP:0012220 Non-caseating epithelioid cell granulomatosis
HP:0007592 Aplasia/Hypoplastia of the eccrine sweat glands
HP:0004679 Large tarsal bones
HP:0100752 Abnormal liver lobulation
HP:0008905 Rhizomelia
HP:0004495 Thin anteverted nares
HP:0011184 EEG with hyperventilation-induced generalized epileptiform discharges
HP:0008007 Primary congenital glaucoma
HP:0005542 Prolonged whole-blood clotting time
HP:0010460 Abnormality of the female genitalia
HP:0006489 Abnormality of the femoral metaphysis
HP:0010324 Abnormality of phalanx of the 2nd toe
HP:0025191 Segmental myoclonic seizures
HP:0000188 Short upper lip
HP:0010505 Limitation of movement at ankles
HP:0003237 Increased IgG level
HP:0011925 Decreased activity of mitochondrial ATP synthase complex
HP:0012105 Occipital cortical atrophy
HP:0004378 Abnormality of the anus
HP:0012351 Increased sialylation of N-linked protein glycosylation
HP:0011864 Elevated plasma pyrophosphate
HP:0001504 Metacarpal osteolysis
HP:0100120 Stippling of the epiphysis of the middle phalanx of the 2nd toe
HP:0009582 Bullet-shaped proximal phalanx of the 2nd finger
HP:0100175 Ivory epiphysis of the distal phalanx of the 4th toe
HP:0009934 Supernumerary naris
HP:0004787 Fulminant hepatitis
HP:0002836 Bladder exstrophy
HP:0012896 Abnormal motor evoked potentials
HP:0012051 Reactive hypoglycemia
HP:0012072 Aciduria
HP:0010480 Urethral fistula
HP:0000233 Thin vermilion border
HP:0007364 Aplasia/Hypoplasia of the cerebrum
HP:0002136 Broad-based gait
HP:0007007 Cavitation of the basal ganglia
HP:0040056 Absent upper eyelashes
HP:0040162 Orthokeratosis
HP:0030003 Paralytic lagophthalmos
HP:0030117 Absent muscle fiber emerin
HP:0012636 Retinal vein occlusion
HP:0001593 Maxillary lateral incisor microdontia
HP:0003419 Low back pain
HP:0010264 Pseudoepiphyses of the middle phalanges of the hand
HP:0003401 Paresthesia
HP:0100017 Capsular cataract
HP:0008981 Calf muscle hypertrophy
HP:0009534 Triangular epiphysis of the proximal phalanx of the 2nd finger
HP:0009321 Absent epiphysis of the middle phalanx of the 3rd finger
HP:0025362 Renal medullary pyramid hypoplasia
HP:0012610 Abnormality of urinary uric acid concentration
HP:0002307 Drooling
HP:0007929 Peripheral retinal detachment
HP:0011000 Aplasia/Hypoplasia of the optic tract
HP:0030565 Best corrected visual acuity 1.2 LogMAR
HP:0040261 Increased size of nasopharyngeal adenoids
HP:3000004 Abnormality of frontalis muscle belly
HP:0010382 Abnormality of the proximal phalanx of the 4th toe
HP:0003020 Enlargement of the wrists
HP:0012004 Mnemonic auras
HP:0012005 Deja vu
HP:0002901 Hypocalcemia
HP:0006487 Bowing of the long bones
HP:0000635 Blue irides
HP:0012822 Bilateral vocal cord paresis
HP:0006465 Periosteal thickening of long tubular bones
HP:0005667 Os odontoideum
HP:0011748 Adrenocorticotropic hormone deficiency
HP:0003133 Abnormality of the spinocerebellar tracts
HP:0007803 Monochromacy
HP:0003493 Antinuclear antibody positivity
HP:0030051 Tip-toe gait
HP:0003534 Reduced xanthine dehydrogenase activity
HP:0100051 Pseudoepiphyses of the 2nd toe
HP:0008225 Thyroid follicular hyperplasia
HP:0030362 Reduced muscle carnitine level
HP:0010192 Triangular shaped distal phalanges of the toes
HP:0000811 Abnormal external genitalia
HP:0003560 Muscular dystrophy
HP:0004262 Abnormality of the capitate bone
HP:0030055 Hyperconvex toenail
HP:0012390 Anal fissure
HP:0012587 Macroscopic hematuria
HP:0030021 Auricular tag
HP:0003555 Muscle fiber splitting
HP:0025024 Megarectum
HP:0002423 Long-tract signs
HP:0011615 Abnormality of pulmonary situs
HP:0006538 Recurrent bronchopulmonary infections
HP:0007390 Hyperkeratosis with erythema
HP:0005231 Chronic gastritis
HP:0012483 Abnormal alpha granules
HP:0030578 Pinhole visual acuity 1.0 LogMAR
HP:0012605 Hypernatriuria
HP:0003191 Cleft ala nasi
HP:0008762 Repetitive compulsive behavior
HP:0005148 Pulmonary valve defects
HP:3000019 Abnormality of buccal mucosa
HP:0011879 Decreased platelet glycoprotein Ib-IX-V
HP:0011205 EEG with intermittent slow activity
HP:0005600 Congenital giant melanocytic nevus
HP:0002619 Varicose veins
HP:0000892 Bifid ribs
HP:0007132 Pallidal degeneration
HP:0010899 Abnormality of aspartate family amino acid metabolism
HP:0003318 Cervical spine hypermobility
HP:0010100 Complete duplication of hallux phalanx
HP:0100608 Metrorrhagia
HP:0009195 Epiphyseal stippling of the metacarpals
HP:0012267 Absent respiratory ciliary axoneme radial spokes
HP:0005048 Synostosis of carpal bones
HP:0008675 Enlarged polycystic ovaries
HP:0004598 Supernumerary vertebral ossification centers
HP:0000211 Trismus
HP:0011664 Left ventricular noncompaction cardiomyopathy
HP:0040075 Hypopituitarism
HP:0010696 Polar cataract
HP:0003796 Irregular iliac crest
HP:0100348 Contracture of the proximal interphalangeal joint of the 2nd toe
HP:0003214 Prolonged G2 phase of cell cycle
HP:0030100 Abnormal muscle fiber alpha sarcoglycan
HP:0100195 Fragmentation of the epiphysis of the proximal phalanx of the 4th toe
HP:0004940 Generalized arterial calcification
HP:0007291 Posterior fossa cyst
HP:0009675 Absent epiphysis of the distal phalanx of the thumb
HP:0012260 Abnormal central microtubular pair morphology of respiratory motile cilia
HP:0001101 Iritis
HP:0010766 Ectopic calcification
HP:0009771 Osteolytic defects of the phalanges of the hand
HP:0040263 Jaw ankylosis
HP:0009131 Abnormality of the musculature of the thorax
HP:0007621 Telangiectasia of extensor surfaces
HP:0100546 Carotid artery stenosis
HP:0009493 Irregular epiphyses of the 2nd finger
HP:0100075 Stippling of the epiphyses of the 4th toe
HP:0007569 Generalized seborrheic dermatitis
HP:0100111 Absent epiphysis of the middle phalanx of the 2nd toe
HP:0007782 Peripheral retinal cone degeneration
HP:0030663 Optically empty vitreous
HP:0005723 Shoe-shaped sella turcica
HP:0004249 Accessory lunate
HP:0003127 Hypocalciuria
HP:0030918 Low 1-minute APGAR score
HP:0009693 Pseudoepiphysis of the thumb
HP:0000713 Agitation
HP:0009989 Duplication of the middle phalanx of the 5th finger
HP:0003964 Osteoporotic forearm bones
HP:0012575 Abnormality of the nephron
HP:0011308 Slender toe
HP:0010420 Triangular shaped distal phalanx of the 2nd toe
HP:0100412 Complete duplication of the middle phalanx of the 5th toe
HP:0030939 Palpebral thickening
HP:0011234 Absent antihelix
HP:0012359 Abnormal fucosylation of O-linked protein glycosylation
HP:0010125 Abnormality of the epiphysis of the 1st metatarsal
HP:0004759 Nodular calcific aortic valve disease
HP:0030575 Pinhole visual acuity 0.7 LogMAR
HP:0000177 Abnormality of upper lip
HP:0011313 Narrow nail
HP:0000633 Decreased lacrimation
HP:0000683 Grayish enamel
HP:0010998 Increased susceptibility to spontaneous sister chromatid exchange
HP:0003956 Bowed forearm bones
HP:0008437 Bifid thoracic vertebrae
HP:0003508 Proportionate short stature
HP:0011174 Hyperkinetic seizures
HP:0001634 Mitral valve prolapse
HP:0011143 Age-related cortical cataract
HP:0000128 Renal potassium wasting
HP:0012208 Nonmotile sperm
HP:0009125 Lipodystrophy
HP:0030799 Scaphocephaly
HP:0004818 Paroxysmal nocturnal hemoglobinuria
HP:0030305 Decreased number of vertebrae
HP:0002597 Abnormality of the vasculature
HP:0030484 Supernormal dark-adapted bright flash electroretinogram b-wave
HP:0008237 Hypothalamic hypothyroidism
HP:0002834 Flared femoral metaphysis
HP:0011082 Conical primary incisor
HP:0002315 Headache
HP:0030637 Cone dysfunction syndrome
HP:0012789 Hypoplasia of the calcaneus
HP:0010775 Vascular ring
HP:0030725 Neurenteric cyst
HP:0011373 Incomplete partition of the cochlea
HP:0000016 Urinary retention
HP:0011681 Subarterial ventricular septal defect
HP:0004295 Abnormality of the gastric mucosa
HP:0003325 Limb-girdle muscle weakness
HP:0011968 Feeding difficulties
HP:0006881 Diffuse peripheral demyelination
HP:0010814 Abnormal position of hair whorl
HP:0008014 Central fundal arteriolar microaneurysms
HP:0004368 Increased purine levels
HP:0030930 1-minute APGAR score of 3
HP:0030687 Abnormal glucagon level
HP:0030107 Reduced muscle fiber beta sarcoglycan
HP:0003277 Constricted iliac wings
HP:0040064 Abnormality of limbs
HP:0012043 Pendular nystagmus
HP:0012904 Cold-sensitive myotonia
HP:0009020 Exercise-induced muscle fatigue
HP:0100718 Uterine rupture
HP:0001854 Podagra
HP:0005415 Decreased number of CD8+ T cells
HP:0011444 Decorticate rigidity
HP:0011859 Punctate keratitis
HP:0009755 Ankyloblepharon
HP:0007668 Impaired pursuit initiation and maintenance
HP:0003610 Fibroblast metachromasia
HP:0012658 Abnormal brain FDG positron emission tomography
HP:0100565 Hydromyelia
HP:0011395 Aplasia/Hypoplasia of the cochlea
HP:0010322 Abnormality of the 5th toe
HP:0011995 Atrial septal aneurysm
HP:0003696 Absent epiphysis of the distal phalanx of the 5th finger
HP:0100137 Cone-shaped epiphysis of the distal phalanx of the 3rd toe
HP:0100891 Bifid xiphoid process
HP:0009351 Irregular epiphysis of the proximal phalanx of the 3rd finger
HP:0025242 Dot-and-blot retinal hemorrhage
HP:0006330 Rotated maxillary central incisors
HP:0006999 Basal ganglia gliosis
HP:0009230 Osteolytic defects of the proximal phalanx of the 5th finger
HP:0012382 Left-to-right shunt
HP:0008019 Superior lens subluxation
HP:0010501 Limitation of knee mobility
HP:0003982 Absent ulna
HP:0005549 Congenital neutropenia
HP:0011512 Hyperpigmentation of the fundus
HP:0010503 Fibular duplication
HP:0100349 Contracture of the proximal interphalangeal joint of the 3rd toe
HP:0008480 Cervical spondylosis
HP:0008247 Euthyroid hyperthyroxinemia
HP:0007900 Hypoplastic lacrimal duct
HP:0100043 Broad 5th toe
HP:0001980 Megaloblastic bone marrow
HP:0011220 Prominent forehead
HP:0200073 Respiratory insufficiency due to defective ciliary clearance
HP:0011963 Pretesticular azoospermia
HP:0030589 Abnormal confrontational visual field test
HP:3000051 Abnormality of hyoglossus muscle
HP:0012076 Borderline personality disorder
HP:0010048 Aplasia of metacarpal bones
HP:0005019 Diaphyseal thickening
HP:0004428 Elfin facies
HP:0007769 Peripheral retinal degeneration
HP:0003108 Hyperglycinuria
HP:0200072 Episodic quadriplegia
HP:0002514 Cerebral calcification
HP:0000052 Urethral atresia, male
HP:0009909 Uplifted earlobe
HP:0012687 Agenesis of pineal gland
HP:0002904 Hyperbilirubinemia
HP:0004717 Axial malrotation of the kidney
HP:0000824 Growth hormone deficiency
HP:0006262 Aplasia/Hypoplasia of the 5th finger
HP:0040036 Onychogryposis of fingernail
HP:0009964 Duplication of the proximal phalanx of the 3rd finger
HP:0012177 Abnormal natural killer cell physiology
HP:0100323 Juvenile aseptic necrosis
HP:0002371 Loss of speech
HP:0009317 Deviation of the 3rd finger
HP:0011104 Abnormality of blood volume homeostasis
HP:0100786 Hypersomnia
HP:0002049 Proximal renal tubular acidosis
HP:0004823 Anisopoikilocytosis
HP:0006600 Progressive calcification of costochondral cartilage
HP:0005365 Severe B lymphocytopenia
HP:0009938 Sunken cheeks
HP:0007236 Recurrent subcortical infarcts
HP:0000298 Mask-like facies
HP:0003174 Abnormality of the ischium
HP:0025011 Pyriform aperture stenosis
HP:0003233 Hypoalphalipoproteinemia
HP:0002108 Spontaneous pneumothorax
HP:0100089 Abnormality of the epiphysis of the middle phalanx of the 2nd toe
HP:0009483 Symphalangism of the proximal phalanx of the 3rd finger with the 3rd metatcarpal
HP:0010325 Aplasia/Hypoplasia of the 2nd toe
HP:0000641 Dysmetric saccades
HP:0008946 Pelvic girdle amyotrophy
HP:0001791 Fetal ascites
HP:0008078 Thin metatarsal cortices
HP:0030231 Glycogen accumulation in muscle fiber lysosomes
HP:0000134 Female hypogonadism
HP:0004821 Hypersegmentation of neutrophil nuclei
HP:0012514 Lower limb pain
HP:0007641 Dyschromatopsia
HP:3000028 Abnormality of depressor anguli oris muscle
HP:0007048 Large basal ganglia
HP:0009257 Pseudoepiphysis of the distal phalanx of the 4th finger
HP:0100171 Cone-shaped epiphysis of the distal phalanx of the 4th toe
HP:0011723 Congenital malformation of the right heart
HP:0025179 Ground-glass opacification
HP:0010429 Complete duplication of the phalanges of the 2nd toe
HP:0003785 Decreased CSF homovanillic acid
HP:0025144 Shivering
HP:0003426 First dorsal interossei muscle atrophy
HP:0003435 Cold-induced hand cramps
HP:0010967 Abnormality of carnitine metabolism
HP:0030561 Best corrected visual acuity 0.8 LogMAR
HP:0004019 Radial metaphyseal irregularity
HP:0002699 Abnormality of the foramen magnum
HP:0010096 Complete duplication of the distal phalanx of the hallux
HP:0010352 Patchy sclerosis of 2nd toe phalanx
HP:0010446 Tricuspid stenosis
HP:0008528 Long hairs growing from helix of pinna
HP:0001913 Granulocytopenia
HP:0010151 Cone-shaped epiphysis of the 1st metatarsal
HP:0008240 Secondary growth hormone deficiency
HP:0030628 Foveal subretinal hyporeflective spaces on macular OCT
HP:0000384 Preauricular skin tag
HP:0009191 Ivory epiphyses of the metacarpals
HP:0011360 Acquired abnormal hair pattern
HP:0009918 Ectopia pupillae
HP:0009775 Amniotic constriction ring
HP:0006891 Thick cerebral cortex
HP:0003536 Decreased fumarate hydratase activity
HP:0000090 Nephronophthisis
HP:0002937 Hemivertebrae
HP:0011494 Generalized opacification of the cornea
HP:0012284 Small proximal tibial epiphyses
HP:0008691 Solitary bladder diverticulum
HP:0100327 Cow milk allergy
HP:0011349 Abducens palsy
HP:0000647 Sclerocornea
HP:0011825 Tented philtrum
HP:0007477 Abnormal dermatoglyphics
HP:0006706 Cystic liver disease
HP:0010545 Downbeat nystagmus
HP:0007431 Congenital ichthyosiform erythroderma
HP:0011721 Infracardiac total anomalous pulmonary venous connection
HP:0001006 Hypotrichosis
HP:0000011 Neurogenic bladder
HP:0012688 Abnormality of pineal physiology
HP:0011699 Atrial reentry tachycardia
HP:0006949 Episodic peripheral neuropathy
HP:0002162 Low posterior hairline
HP:0100945 Sclerosis of the 1st metatarsal
HP:0006217 Limited mobility of proximal interphalangeal joint
HP:0040259 Aplastic nasopharyngeal adenoids
HP:0000246 Sinusitis
HP:0004905 Vitamin A deficiency
HP:0030313 Abnormal periosteum morphology
HP:0004322 Short stature
HP:0005336 Forehead hyperpigmentation
HP:0010068 Broad first metatarsal
HP:0002419 Molar tooth sign on MRI
HP:0010729 Cherry red spot of the macula
HP:0003371 Enlargement of the proximal femoral epiphysis
HP:0004953 Abdominal aortic aneurysm
HP:0011992 Abnormality of neutrophil morphology
HP:0025068 Incomitant strabismus
HP:0010475 Cloacal exstrophy
HP:0025300 Malar rash
HP:0000242 Parietal bossing
HP:0000620 Dacryocystitis
HP:0100952 Enlarged sylvian cistern
HP:0008421 Tall lumbar vertebral bodies
HP:0005482 Abnormality of the alternate complement pathway
HP:0010957 Congenital posterior urethral valve
HP:0012078 Motor conduction block
HP:0030333 Abnormal alpha-beta T cell morphology
HP:0008391 Dystrophic fingernails
HP:0011138 Abnormality of skin adnexa morphology
HP:0006321 Multiple non-erupting secondary teeth
HP:0006443 Patellar aplasia
HP:0100086 Stippling of the epiphyses of the 5th toe
HP:0001650 Aortic valve stenosis
HP:0004032 Abnormality of the olecranon
HP:0009830 Peripheral neuropathy
HP:3000068 Abnormality of lateral pterygoid muscle
HP:0008207 Primary adrenal insufficiency
HP:0001049 Absent dorsal skin creases over affected joints
HP:0004269 Subluxation of the small joints of the hand
HP:0008330 Reduced von Willebrand factor activity
HP:0002161 Hyperlysinemia
HP:0005216 Chewing difficulties
HP:0100458 Osteolytic defects of the distal phalanx of the 3rd toe
HP:0000876 Oligomenorrhea
HP:0000356 Abnormality of the outer ear
HP:0005403 Decrease in T cell count
HP:0007001 Loss of Purkinje cells in the cerebellar vermis
HP:0006112 Expanded phalanges with widened medullary cavities
HP:0011213 EEG with photoparoxysmal response grade III
HP:0030759 Adipocyte hypertrophy
HP:0009597 Short proximal phalanx of the 2nd finger
HP:0002997 Abnormality of the ulna
HP:0010498 Bipartite patella
HP:0003689 Multiple mitochondrial DNA deletions
HP:0012067 Glycopeptiduria
HP:0009150 Abnormality of the proximal phalanx of the 5th finger
HP:0011117 Abnormality of interleukin secretion
HP:0025249 Comedo
HP:0100241 Ectopic respiratory mucosa
HP:0003566 Increased serum prostaglandin E2
HP:0003118 Increased circulating cortisol level
HP:0005546 Increased red cell osmotic resistance
HP:0012473 Tongue atrophy
HP:0000934 Chondrocalcinosis
HP:0012679 Widened interpedicular distance
HP:0009697 Contracture of the distal interphalangeal joint of the fingers
HP:0002740 Recurrent E. coli infections
HP:0200067 Recurrent spontaneous abortion
HP:0012155 Decreased corneal sensation
HP:0004580 Anterior scalloping of vertebral bodies
HP:0003554 Type 2 muscle fiber atrophy
HP:0012253 Abnormal respiratory epithelium morphology
HP:0012660 Thalamic hypometabolism in FDG PET
HP:0005315 Peripheral artery occlusive disease
HP:0010940 Aplasia/Hypoplasia of the nasal bone
HP:0008090 Ankylosis of feet small joints
HP:0003918 Sclerotic humeral metaphysis
HP:0009496 Small epiphyses of the 2nd finger
HP:0009272 Aplasia/Hypoplasia of the 4th finger
HP:0007658 Large hyperpigmented retinal spots
HP:0010169 Pseudoepiphyses of the toes
HP:0004922 Atypical hyperphenylalaninemia
HP:0012766 Widened cerebral subarachnoid space
HP:0010938 Abnormality of the external nose
HP:0100044 Absent epiphyses of the 2nd toe
HP:0006500 Abnormality of lower limb epiphysis morphology
HP:0008087 Nonossified fifth metatarsal
HP:0010336 Abnormality of the phalanges of the 4th toe
HP:0100121 Triangular epiphysis of the middle phalanx of the 2nd toe
HP:0030496 Macular exudation
HP:0012674 Aplasia of the lower vagina
HP:0025070 Abnormal U wave
HP:0011555 Double inlet left ventricle
HP:0010012 Abnormality of the 4th metacarpal
HP:0011320 Unilambdoid synostosis
HP:0012014 EEG with central focal spikes
HP:0040231 Abnormal onset of bleeding
HP:0005244 Gastrointestinal infarctions
HP:0000103 Polyuria
HP:0007676 Hypoplasia of the iris
HP:0004417 Intermittent claudication
HP:0003268 Argininuria
HP:0012085 Pyuria
HP:0030111 Reduced muscle fiber delta sarcoglycan
HP:0010193 Duplication of distal phalanx of toe
HP:0003468 Abnormality of the vertebrae
HP:0100735 Hypertensive crisis
HP:0006273 Pancreatic lymphangiectasis
HP:0004299 Hernia of the abdominal wall
HP:0040123 Impairment of the reflex of the tensor tympanii muscle
HP:0000841 Hyperactive renin-angiotensin system
HP:0002511 Alzheimer disease
HP:0011548 Absent right sided atrioventricular connection
HP:0000523 Subcapsular cataract
HP:0030247 Splanchnic vein thrombosis
HP:0002450 Abnormal motor neuron morphology
HP:0008264 Neutrophil inclusion bodies
HP:0003262 Smooth muscle antibody positivity
HP:0000185 Cleft soft palate
HP:0011124 Abnormality of epidermal morphology
HP:0002683 Abnormality of the calvaria
HP:0200118 Malabsorption of Vitamin B12
HP:0004856 Normochromic microcytic anemia
HP:0002273 Tetraparesis
HP:0011529 Multiple bilateral congenital hypertrophy of retinal pigment epithelium
HP:0001367 Abnormal joint morphology
HP:0000979 Purpura
HP:0005293 Venous insufficiency
HP:0003363 Abdominal situs inversus
HP:0010037 Aplasia of the 2nd metacarpal
HP:0011983 Brown pigment gallstones
HP:0030879 Interlobular septal thickening
HP:0008883 Mild intrauterine growth retardation
HP:0001166 Arachnodactyly
HP:0012817 Noncompaction cardiomyopathy
HP:0008179 Decreased Arden ratio of electrooculogram
HP:0011549 Univentricular heart with absent left sided atrioventricular connection
HP:0003241 External genital hypoplasia
HP:0100388 Aplasia of the proximal phalanges of the toes
HP:0011768 Parathyroid dysgenesis
HP:0040072 Abnormality of forearm bone
HP:0009971 Polydactyly affecting the 4th finger
HP:0100622 Maternal seizures
HP:0030837 Finger pain
HP:0010438 Abnormality of the ventricular septum
HP:0008656 Incomplete male pseudohermaphroditism
HP:0000225 Gingival bleeding
HP:0007808 Bilateral retinal coloboma
HP:0010487 Small hypothenar eminence
HP:0000867 Secondary hyperparathyroidism
HP:0002139 Arrhinencephaly
HP:0003357 Thymic hormone decreased
HP:0012487 Cerebellopontine angle arachnoid cyst
HP:0003341 Junctional split
HP:0007838 Progressive ptosis
HP:0008361 Corticospinal tract pallor
HP:0007529 Hidrotic ectodermal dysplasia
HP:0001850 Abnormality of the tarsal bones
HP:0000621 Entropion
HP:0100854 Aplasia of the musculature
HP:0025202 Elevated apolipoprotein A-IV level
HP:0004445 Elliptocytosis
HP:0004841 Reduced factor XII activity
HP:0005257 Thoracic hypoplasia
HP:0001608 Abnormality of the voice
HP:0030104 Abnormal muscle fiber gamma sarcoglycan
HP:0009719 Hypomelanotic macule
HP:0002680 J-shaped sella turcica
HP:0006535 Recurrent intrapulmonary hemorrhage
HP:0005856 Ulnar radial head dislocation
HP:0100252 Diaphyseal dysplasia
HP:0011600 Abnormal direction of ventricular apex
HP:0030851 Low pulse pressure
HP:0009598 Symphalangism of the proximal phalanx of the 2nd finger with the 2nd metatcarpal
HP:0002038 Protein avoidance
HP:0003691 Scapular winging
HP:0003900 Small humeral epiphyses
HP:0030054 Perifollicular fibrosis
HP:0100497 Vitamin B3 deficiency
HP:0008191 Thyroid agenesis
HP:0045014 Hypolipidemia
HP:0003862 Absent humerus
HP:0009002 Loss of truncal subcutaneous adipose tissue
HP:0011597 Right aortic arch with left descending aorta and left ductus arteriosus
HP:0003221 Chromosomal breakage induced by crosslinking agents
HP:0006677 Prolonged QRS complex
HP:0010838 High nonceruloplasmin-bound serum copper
HP:0010686 Low alkaline phosphatase of hepatic origin
HP:0005420 Recurrent gram-negative bacterial infections
HP:0000795 Abnormality of the urethra
HP:0012131 Abnormal number of erythroid precursors
HP:0010141 Enlarged epiphysis of the distal phalanx of the hallux
HP:0003860 Diaphyseal sclerosis of the upper limbs
HP:0030913 Exaggerated rugosity of the labia majora
HP:0040213 Hypopnea
HP:0100840 Aplasia/Hypoplasia of the eyebrow
HP:0100677 Vulval varicose vein
HP:0003444 EMG: chronic denervation signs
HP:0003228 Hypernatremia
HP:0011275 Recurrent mycobacterium avium complex infections
HP:0430022 Abnormality of the sphenoid sinus
HP:0025072 Prominent U wave
HP:3000025 Abnormality of ciliary ganglion
HP:0030011 Imperforate hymen
HP:0007429 Few cafe-au-lait spots
HP:0007686 Abnormal pupillary function
HP:0003532 Ornithinuria
HP:0009821 Forearm undergrowth
HP:0030526 Peripheral visual field constriction with 10-20 degrees central field preserved
HP:0006681 Absent atrioventricular node
HP:3000013 Abnormality of platysma
HP:0025031 Abnormality of the digestive system
HP:0410005 Cleft hard palate
HP:0010621 Cutaneous syndactyly of toes
HP:0001382 Joint hypermobility
HP:0002341 Cervical cord compression
HP:0002601 Paresis of extensor muscles of the big toe
HP:0005897 Severe generalized osteoporosis
HP:0000028 Cryptorchidism
HP:0100235 Synostosis involving bones of the toes
HP:0030401 Abnormal platelet dense granule ATP/ADP ratio
HP:0030230 Central core regions in muscle fibers
HP:0003973 Wide radioulnar joints
HP:0008822 Hypoplastic ischiopubic rami
HP:0010142 Fragmentation of the epiphysis of the distal phalanx of the hallux
HP:0005913 Abnormality of metacarpal epiphyses
HP:0012456 Medial arterial calcification
HP:0000651 Diplopia
HP:0011049 Agenesis of primary maxillary lateral incisor
HP:0000039 Epispadias
HP:0011016 Abnormality of urine glucose concentration
HP:0002812 Coxa vara
HP:0000032 Abnormality of male external genitalia
HP:0040089 Abnormality of natural killer cell number
HP:0040248 Reduced plasminogen activator inhibitor 1 activity
HP:0010793 Bifid nail
HP:0006453 Lateral displacement of the femoral head
HP:0100503 Vitamin B1 deficiency
HP:0100091 Abnormality of the epiphysis of the distal phalanx of the 3rd toe
HP:0430005 Abnormality of ethmoid bone
HP:0002615 Hypotension
HP:0007508 Punctate palmar hyperkeratosis
HP:0001563 Fetal polyuria
HP:0011583 Cervical ectopia cordis
HP:0002961 Dysgammaglobulinemia
HP:0025107 Cutis marmorata telangiectatica congenita
HP:0009834 Abnormality of the proximal phalanges of the hand
HP:0002118 Abnormality of the cerebral ventricles
HP:0011534 Abnormal spatial orientation of the cardiac segments
HP:0003414 Atlantoaxial dislocation
HP:0006844 Absent patellar reflexes
HP:0011042 Abnormality of potassium homeostasis
HP:0100384 Absent proximal phalanx of the 3rd toe
HP:0030869 Anorchism
HP:0000815 Hypergonadotropic hypogonadism
HP:0002372 Normal interictal EEG
HP:0012318 Occipital neuralgia
HP:0003167 Carnosinuria
HP:0009243 Patchy sclerosis of the distal phalanx of the 5th finger
HP:0001039 Atheroeruptive xanthoma
HP:0008554 Cochlear malformation
HP:0012638 Abnormality of nervous system physiology
HP:0100314 Cerebral inclusion bodies
HP:0004737 Global glomerulosclerosis
HP:0001335 Bimanual synkinesia
HP:0011457 Loss of eyelashes
HP:0004002 Flattened radial epiphyses
HP:0007000 Morning myoclonic jerks
HP:0010591 Abnormality of the proximal tibial epiphysis
HP:0001081 Cholelithiasis
HP:0003413 Atlantoaxial abnormality
HP:0004274 Deficient ossification of hand bones
HP:0008739 Labial pseudohypertrophy
HP:0000002 Abnormality of body height
HP:0000589 Coloboma
HP:0011164 Vegetative auras
HP:0030599 Abnormal Estermann grid perimetry test
HP:0030540 Unaided visual acuity 0.5 LogMAR
HP:0002622 Dissecting aortic aneurysm
HP:0030012 Abnormal female reproductive system physiology
HP:0004943 Accelerated atherosclerosis
HP:0045010 Abnormality of peripheral nerves
HP:0100221 Small epiphysis of the middle phalanx of the 5th toe
HP:0010912 Abnormality of isoleucine metabolism
HP:0030802 Lower eyelid retraction
HP:0045004 Abnormal ossification of the trapezoid bone
HP:0004901 Exercise-induced lactic acidemia
HP:0003571 Propionicacidemia
HP:3000008 Abnormality of mylohyoid muscle
HP:0002094 Dyspnea
HP:0100712 Abnormality of the lumbar spine
HP:0011499 Mydriasis
HP:0012310 Abnormal monocyte count
HP:0010928 Abnormality of orotic acid metabolism
HP:0012016 EEG with occipital focal spikes
HP:0011294 EEG with frontal sharp waves
HP:0008110 Equinovarus deformity
HP:0000031 Epididymitis
HP:0003935 Wide humeral diaphysis
HP:0009416 Ivory epiphyses of the 3rd finger
HP:0003864 Bifid humerus
HP:0030001 Lagopthalmos
HP:0012010 EEG with frontal focal spike waves
HP:0009988 Duplication of the distal phalanx of the 5th finger
HP:0100415 Complete duplication of the proximal phalanx of the 5th toe
HP:0001696 Situs inversus totalis
HP:0010898 Abnormality of sarcosine metabolism
HP:0010600 Abnormality of the distal ulnar epiphysis
HP:0009687 Bracket epiphyses of the thumb
HP:0002507 Semilobar holoprosencephaly
HP:0100601 Eclampsia
HP:0001100 Heterochromia iridis
HP:0030464 Asymmetrical distribution of pattern reversal visual evoked potentials
HP:0045013 Decreased urinary glucose concentration
HP:0001756 Vestibular hypofunction
HP:0009424 Osteolytic defects of the distal phalanx of the 3rd finger
HP:0100248 Hemiballismus
HP:0002283 Global brain atrophy
HP:0009268 Pseudoepiphysis of the proximal phalanx of the 4th finger
HP:0002744 Bilateral cleft lip and palate
HP:0009883 Duplication of the distal phalanx of hand
HP:0004762 Hypoplasia of right ventricle
HP:0100509 Abnormality of vitamin C metabolism
HP:0011267 Microtia, third degree
HP:0100099 Abnormality of the epiphysis of the proximal phalanx of the 5th toe
HP:0007455 Adermatoglyphia
HP:0003265 Neonatal hyperbilirubinemia
HP:0006380 Knee flexion contracture
HP:0000174 Abnormality of the palate
HP:0010626 Anterior pituitary agenesis
HP:0003272 Abnormality of the hip bone
HP:0010826 Abnormality of the twelfth cranial nerve
HP:0000183 Difficulty in tongue movements
HP:0100310 Epidural hemorrhage
HP:0003808 Abnormal muscle tone
HP:0011406 Infancy onset short-trunk short stature
HP:0010907 Abnormality of proline metabolism
HP:0000639 Nystagmus
HP:0004309 Ventricular preexcitation
HP:0025177 Peribronchovascular interstitial thickening
HP:0007980 Absent retinal pigment epithelium
HP:0010937 Abnormality of the nasal skeleton
HP:0003929 Ground glass opacity of humeral diaphysis
HP:0009828 Peromelia
HP:0045041 Lactate dehydrogenase B deficiency
HP:0004444 Spherocytosis
HP:0008432 Anterior wedging of L1
HP:0008198 Congenital hypoparathyroidism
HP:0011431 Fetal fifth finger clinodactyly
HP:0011341 Long upper lip
HP:0001911 Abnormality of granulocytes
HP:0001029 Poikiloderma
HP:0000540 Hypermetropia
HP:0002648 Abnormality of calvarial morphology
HP:0001806 Onycholysis
HP:0006406 Club-shaped proximal femur
HP:0009811 Abnormality of the elbow
HP:0008048 Abnormality of the line of Schwalbe
HP:0030848 Elevated jugular venous pressure
HP:0004380 Aortic valve calcification
HP:0002743 Recurrent enteroviral infections
HP:0012528 Abnormal number of alpha granules
HP:0011835 Absent scaphoid
HP:0002823 Abnormality of the femur
HP:0012591 Abnormal urinary electrolyte concentration
HP:0002187 Intellectual disability, profound
HP:0008009 Three rows of eyelashes
HP:0100759 Clubbing of fingers
HP:0001498 Carpal bone hypoplasia
HP:0100456 Osteolytic defects of the proximal phalanx of the 4th toe
HP:0009377 Patchy sclerosis of 5th finger phalanx
HP:0000060 Clitoral hypoplasia
HP:0011928 Short proximal phalanx of toe
HP:0030207 Paradoxical respiration
HP:0010428 Partial duplication of phalanx of the 2nd toe
HP:0003943 Abnormality of the joint spaces of the elbow
HP:0007874 Almond-shaped palpebral fissure
HP:0010970 Blood group antigen abnormality
HP:0005885 Absent ossification of cervical vertebral bodies
HP:0011354 Generalized abnormality of skin
HP:0030027 Abnormality of the nasal cartilage
HP:0045005 Neural tube defect
HP:0030819 Ski jump nail
HP:0002908 Conjugated hyperbilirubinemia
HP:0001935 Microcytic anemia
HP:0040160 Generalized osteoporosis
HP:0008751 Laryngeal cleft
HP:0006055 Ulnar deviated club hands
HP:0100419 Partial duplication of the middle phalanx of the 3rd toe
HP:0003218 Oroticaciduria
HP:0004621 Enlarged vertebral pedicles
HP:0100921 Sclerosis of 5th finger phalanx
HP:0000661 Palpebral fissure narrowing on adduction
HP:0011367 Yellow nails
HP:0009446 Triangular shaped phalanges of the 3rd finger
HP:0000895 Lateral clavicle hook
HP:0005466 Hypoplasia of the frontal bone
HP:0001533 Slender build
HP:0011718 Abnormality of the pulmonary veins
HP:0002558 Supernumerary nipple
HP:0011972 Hypoglycorrhachia
HP:0009229 Curved proximal phalanx of the 5th finger
HP:0030169 Gastric varix
HP:0009786 Aplasia/Hypoplasia of the musculature of the thigh
HP:0002457 Abnormal head movements
HP:0030726 Spinal neurenteric cyst
HP:0005223 Duplicated colon
HP:0012344 Morphea
HP:0005928 Synostosis involving the fibula
HP:0003740 Myotonia with warm-up phenomenon
HP:0100837 Atrophodermia vermiculata
HP:0002777 Tracheal stenosis
HP:0009839 Osteolytic defects of the distal phalanges of the hand
HP:0030150 Plasmacytosis
HP:0100700 Abnormality of the arachnoid mater
HP:0010419 Symphalangism affecting the distal phalanx of the 2nd toe
HP:0010560 Undulate clavicles
HP:0011137 Non-pruritic urticaria
HP:0010930 Abnormality of monovalent inorganic cation homeostasis
HP:0010278 Triangular epiphyses of the proximal phalanges of the hand
HP:0001558 Decreased fetal movement
HP:0001952 Abnormal glucose tolerance
HP:0001739 Abnormality of the nasopharynx
HP:0002230 Generalized hirsutism
HP:0008756 Bowing of the vocal cords
HP:0009904 Prominent ear helix
HP:0030774 Mitochondrial swelling
HP:0010347 Aplasia/Hypoplasia of the phalanges of the 2nd toe
HP:0100459 Osteolytic defects of the distal phalanx of the 4th toe
HP:0000737 Irritability
HP:0025237 Confusional arousal
HP:0030371 Increased naive B cell count
HP:0040121 Abnormality of the acoustic reflex
HP:0000837 Increased circulating gonadotropin level
HP:0000920 Enlargement of the costochondral junction
HP:0009250 Absent epiphysis of the distal phalanx of the 4th finger
HP:0005241 Total intestinal aganglionosis
HP:0000913 Posterior rib fusion
HP:0005136 Premature calcification of mitral annulus
HP:0000287 Increased facial adipose tissue
HP:0000056 Abnormality of the clitoris
HP:0010090 Patchy sclerosis of the proximal phalanx of the hallux
HP:0030250 Pulmonary granulomatosis
HP:0010526 Dysgraphia
HP:0000840 Adrenogenital syndrome
HP:0001149 Lattice corneal dystrophy
HP:0007748 Irido-fundal coloboma
HP:0010362 Curved 3rd toe phalanx
HP:0100784 Peripheral arteriovenous fistula
HP:0100872 Abnormality of the plantar skin of foot
HP:0003893 Advanced ossification of the humeral epiphysis
HP:0012850 Small intestinal dysmotility
HP:0005317 Increased pulmonary vascular resistance
HP:0010504 Increased length of the tibia
HP:0011976 Elevated urinary catecholamines
HP:0003665 Amyotrophy of the musculature of the pelvis
HP:0025156 Dependency on intravenous nutrition
HP:0010152 Enlarged epiphysis of the 1st metatarsal
HP:0010911 Hyperleucinemia
HP:0001343 Kernicterus
HP:0011405 Childhood onset short-limb short stature
HP:0006352 Failure of eruption of permanent teeth
HP:0002199 Hypocalcemic seizures
HP:0025328 Antepartum hemorrhage
HP:0025330 Downgaze palsy
HP:0030322 Vertebral artery hypoplasia
HP:0000414 Bulbous nose
HP:0006384 Club-shaped distal femur
HP:0000791 Uric acid nephrolithiasis
HP:0004383 Hypoplastic left heart
HP:0006413 Broad tibial metaphyses
HP:0010837 Decreased serum ceruloplasmin
HP:0001363 Craniosynostosis
HP:0010492 Osseous finger syndactyly
HP:0002037 Inflammation of the large intestine
HP:0008392 Subungual hyperkeratosis
HP:0004964 Pulmonary arterial medial hypertrophy
HP:0011650 Bilateral ductus arteriosus
HP:0006166 Tubular metacarpal bones
HP:0011543 Superior-inferior ventricles without criss-cross atrioventricular valves
HP:0040168 Focal seizures, afebril
HP:0000143 Rectovaginal fistula
HP:0009115 Aplasia/hypoplasia involving the skeleton
HP:0002549 Deficit in phonologic short-term memory
HP:0009709 Increased CSF interferon alpha
HP:0003984 Posteriorly dislocated ulna
HP:0000719 Inappropriate behavior
HP:0000778 Hypoplasia of the thymus
HP:0012147 Reduced quantity of Von Willebrand factor
HP:0006873 Symmetrical progressive peripheral demyelination
HP:0004975 Erlenmeyer flask deformity of the femurs
HP:0006292 Abnormality of dental eruption
HP:0007208 Irregular myelin loops
HP:0009322 Bracket epiphysis of the middle phalanx of the 3rd finger
HP:0003687 Centrally nucleated skeletal muscle fibers
HP:0100189 Stippling of the epiphysis of the middle phalanx of the 4th toe
HP:0008249 Thyroid hyperplasia
HP:0030596 Abnormal Humphrey SITA 30-2 perimetry test
HP:0001697 Abnormality of the pericardium
HP:0100056 Bracket epiphyses of the 3rd toe
HP:0010114 Bracket epiphyses of the hallux
HP:0011245 Abnormality of superior crus of antihelix
HP:0005686 Patchy osteosclerosis
HP:0010053 Abnormality of the distal phalanx of the hallux
HP:0008364 Abnormality of the calcaneus
HP:0008442 Vertebral hyperostosis
HP:0003168 Dibasicaminoaciduria
HP:0011434 Low maternal serum chorionic gonadotropin
HP:0100321 Abnormality of the dentate nucleus
HP:0008830 Hypoplastic pubic rami
HP:0000857 Neonatal insulin-dependent diabetes mellitus
HP:0002271 Autonomic dysregulation
HP:0007776 Sparse lower eyelashes
HP:0000220 Velopharyngeal insufficiency
HP:0030832 Vitreous strands
HP:0002090 Pneumonia
HP:0004840 Hypochromic microcytic anemia
HP:0008402 Ridged fingernail
HP:0100285 EMG: impaired neuromuscular transmission
HP:0100341 Tibial deviation of the 4th toe
HP:0000272 Malar flattening
HP:0008750 Laryngeal atresia
HP:0002720 IgA deficiency
HP:0006289 Agenesis of central incisor
HP:0040088 Abnormal lymphocyte count
HP:0025262 Stiff hip
HP:0007274 Recurrent bacterial meningitis
HP:0012626 Stage 4 chronic kidney disease
HP:0010086 Broad proximal phalanx of the hallux
HP:0009524 Absent epiphysis of the proximal phalanx of the 2nd finger
HP:0007819 Presenile cataracts
HP:0002902 Hyponatremia
HP:0012199 Cluster headache
HP:0012861 Ovotestis
HP:0004878 Intercostal muscle weakness
HP:0100208 Ivory epiphysis of the distal phalanx of the 5th toe
HP:0005505 Refractory anemia
HP:0010873 Cervical spinal cord atrophy
HP:0011567 Sinus venosus atrial septal defect
HP:0003447 Axonal loss
HP:0008419 Intervertebral disc degeneration
HP:0009966 Complete duplication of the middle phalanx of the 3rd finger
HP:0007885 Slowed horizontal saccades
HP:0040008 Aplasia of facial bones
HP:0004425 Flat forehead
HP:0000003 Multicystic kidney dysplasia
HP:0011451 Congenital microcephaly
HP:0001274 Agenesis of corpus callosum
HP:0002582 Chronic atrophic gastritis
HP:0006580 Portal fibrosis
HP:0000019 Urinary hesitancy
HP:0004785 Malrotation of colon
HP:0011714 Libman-Sacks lesions
HP:0003472 Hypocalcemic tetany
HP:0003868 Humeral cortical thickening
HP:0004761 Post-angioplasty coronary artery restenosis
HP:0006342 Peg-shaped maxillary lateral incisors
HP:0007973 Retinal dysplasia
HP:0040208 Elevated CSF biopterin level
HP:0030321 Abnormality of the vertebral artery
HP:0430000 Abnormality of the frontal bone
HP:0002647 Aortic dissection
HP:0003832 Abnormality of the tibial plateaux
HP:0010160 Abnormality of the epiphyses of the toes
HP:0002967 Cubitus valgus
HP:0010163 Bracket epiphyses of the toes
HP:0430019 Abnormality of muscle of facial expression
HP:0005511 Heinz body anemia
HP:0000022 Abnormality of male internal genitalia
HP:0001106 Periorbital hyperpigmentation
HP:0010704 1-2 finger syndactyly
HP:0007985 Retinal arteriolar occlusion
HP:0006355 Agenesis of mandibular central incisor
HP:0010074 Triangular shaped 1st metatarsal
HP:0000182 Movement abnormality of the tongue
HP:0000555 Leukocoria
HP:0000289 Broad philtrum
HP:0010694 Lamellar pulverulent cataract
HP:0000372 Abnormality of the auditory canal
HP:0011181 Low voltage EEG
HP:0100210 Small epiphysis of the distal phalanx of the 5th toe
HP:0010495 Amniotic constriction rings of legs
HP:0000447 Pear-shaped nose
HP:0001459 1-3 toe syndactyly
HP:0008318 Elevated leukocyte alkaline phosphatase
HP:0012881 Abnormality of the labia majora
HP:0007036 Hypoplasia of olfactory tract
HP:0011744 Secondary hypercorticolism
HP:0025083 Elevated dermal desmosine content
HP:0003451 Increased rate of premature chromosome condensation
HP:0040126 Abnormal serum cobalamin level
HP:0011559 Double inlet to single ventricle with two atrioventricular valves
HP:0000732 Inflexible adherence to routines or rituals
HP:0009564 Triangular shaped distal phalanx of the 2nd finger
HP:0040186 Maculopapular exanthema
HP:0100353 Contracture of the distal interphalangeal joint of the 3rd toe
HP:3000034 Abnormality of cartilage of nasal septum
HP:0000204 Cleft upper lip
HP:0011322 Right unilambdoid synostosis
HP:0003159 Hyperoxaluria
HP:0003870 Crumpled humerus
HP:0008661 Urethral stenosis
HP:0010448 Colonic atresia
HP:0007042 Focal white matter lesions
HP:0012082 Cerebellar Purkinje layer atrophy
HP:0000816 Abnormality of Krebs cycle metabolism
HP:0004332 Abnormality of lymphocytes
HP:0009490 Cone-shaped epiphyses of the 2nd finger
HP:0008780 Congenital bilateral hip dislocation
HP:0000667 Phthisis bulbi
HP:0200016 Acrokeratosis
HP:0008144 Flattening of the talar dome
HP:0011542 Criss-cross atrioventricular valves with superior-inferior ventricles
HP:0025077 Decreased QRS voltage
HP:0030898 Pruritis on abdomen
HP:0008288 Nonketotic hyperglycinemia
HP:0000618 Blindness
HP:0002061 Lower limb spasticity
HP:0000096 Glomerulosclerosis
HP:0005135 Abnormal T-wave
HP:0030831 Rhonchi
HP:0030373 Abnormal memory B cell count
HP:0002687 Abnormality of frontal sinus
HP:0100632 Pulmonary sequestration
HP:0400001 Chin with vertical crease
HP:0011329 Abnormality of cranial sutures
HP:0030593 Abnormal manual kinetic perimetry test
HP:0010964 Abnormality of long-chain fatty-acid metabolism
HP:0002984 Hypoplasia of the radius
HP:0011932 Abnormality of the superior cerebellar peduncle
HP:0009552 Aplasia/Hypoplasia of the phalanges of the 2nd finger
HP:0003458 EMG: myopathic abnormalities
HP:0000157 Abnormality of the tongue
HP:0001092 Absent lacrimal punctum
HP:0011093 Molarization of premolar
HP:0006114 Multiple palmar creases
HP:0011073 Abnormality of dental color
HP:0003707 Calf muscle pseudohypertrophy
HP:0010246 Absent epiphyses of the distal phalanges of the hand
HP:0002600 Hyporeflexia of lower limbs
HP:0200001 Dysharmonic accelerated bone age
HP:0010756 Aplasia/Hypoplasia of the premaxilla
HP:0025162 Severe temper tantrums
HP:0000839 Pituitary dwarfism
HP:0011915 Cardiovascular calcification
HP:0009900 Unilateral deafness
HP:0011592 Left aortic arch with isolated subclavian artery
HP:0010693 Pulverulent cataract
HP:0100025 Overfriendliness
HP:0009916 Anisocoria
HP:0010851 EEG with burst suppression
HP:0005200 Retroperitoneal fibrosis
HP:0011971 Dermatographic urticaria
HP:0003887 Abnormality of the humeral heads
HP:0008327 Microscopic nephrocalcinosis
HP:0009880 Broad distal phalanges of all fingers
HP:0011121 Abnormality of skin morphology
HP:0004589 Dysplasia of second lumbar vertebra
HP:0009643 Bullet-shaped distal phalanx of the thumb
HP:0008754 Laryngeal calcification
HP:0004724 Calcium nephrolithiasis
HP:0004969 Peripheral pulmonary artery stenosis
HP:0001640 Cardiomegaly
HP:0003440 Horizontal sacrum
HP:0007867 Restrictive partial external ophthalmoplegia
HP:0000923 Beaded ribs
HP:0040177 Abnormal level of platelet-activating factor
HP:0003855 Spurred metaphyses of the upper limbs
HP:0006611 Decreased number of sternal ossification centers
HP:0030501 Macular crystals
HP:0009708 Synostosis involving the 5th metacarpal
HP:0001248 Short tubular bones of the hand
HP:0007476 Anhidrotic ectodermal dysplasia
HP:0008486 Lumbar interpedicular narrowing
HP:0002563 Constrictive pericarditis
HP:0006417 Broad femoral metaphyses
HP:0003639 Elevated urinary epinephrine
HP:0006930 Frontoparietal cortical dysplasia
HP:0000927 Abnormality of skeletal maturation
HP:0009813 Upper limb phocomelia
HP:0100550 Tendon rupture
HP:0012865 Sperm head anomaly
HP:0001018 Abnormal palmar dermatoglyphics
HP:0030135 Absence of intermediate von Willibrand factor multimers
HP:0011735 Adrenocorticotropin deficient adrenal insufficiency
HP:0004802 Episodic hemolytic anemia
HP:0030861 Decreased CSF amyloid level
HP:0200129 Calcific mitral stenosis
HP:0004403 Proximal esophageal atresia
HP:0000343 Long philtrum
HP:0025355 Retinal arterial macroaneurysms
HP:0011824 Chin with H-shaped crease
HP:0011478 True anophthalmia
HP:0001638 Cardiomyopathy
HP:0000078 Abnormality of the genital system
HP:0012786 Recurrent cystitis
HP:0025116 Fetal distress
HP:0002779 Tracheomalacia
HP:0030534 Abnormal best corrected visual acuity test
HP:0004920 Phenylpyruvic acidemia
HP:0005099 Severe hydrops fetalis
HP:0003867 Humeral cortical irregularity
HP:0012886 Hemorrhagic ovarian cyst
HP:0010112 Mesoaxial foot polydactyly
HP:0012410 Pure red cell aplasia
HP:0010971 Absence of Lutheran antigen on erythrocytes
HP:0030310 Upper extremity joint dislocation
HP:0003187 Breast hypoplasia
HP:0009340 Irregular epiphysis of the distal phalanx of the 3rd finger
HP:0007446 Palmoplantar blistering
HP:0010567 Y-shaped metatarsals
HP:0002018 Nausea
HP:0003301 Irregular vertebral endplates
HP:0007428 Telangiectasia of the oral mucosa
HP:0009812 Amelia involving the upper limbs
HP:0010805 Upturned corners of mouth
HP:0040219 Absent natural killer cells
HP:0012491 Abnormal dense tubular system
HP:0100679 Lack of skin elasticity
HP:0003877 Oval transradiancy of humerus
HP:0011365 Patchy hypopigmentation of hair
HP:0009640 Synostosis of the proximal phalanx of the thumb with the 1st metatcarpal
HP:0011404 Lethal short-trunk short stature
HP:0009505 Enlarged epiphysis of the distal phalanx of the 2nd finger
HP:0007126 Proximal amyotrophy
HP:0000283 Broad face
HP:0040143 Dystopic os odontoideum
HP:0002083 Migraine without aura
HP:0004554 Generalized hypertrichosis
HP:0025158 Hyperautofluorescent retinal lesion
HP:0003465 Elevated 8(9)-cholestenol
HP:0100947 Sclerosis of middle toe phalanx
HP:0012563 Premature epimetaphyseal fusion in foot
HP:0040206 Abnormal level of neopterin
HP:0004043 Lytic defects of ulnar metaphysis
HP:0012440 Abnormal biliary tract morphology
HP:0030928 1-minute APGAR score of 1
HP:0011799 Abnormality of facial soft tissue
HP:0002639 Budd-Chiari syndrome
HP:0009905 Thin ear helix
HP:0007707 Congenital primary aphakia
HP:0000640 Gaze-evoked nystagmus
HP:0025265 Stiff toe
HP:0030667 Peripheral retinal neovascularization
HP:0009185 Contracture of the proximal interphalangeal joint of the 5th finger
HP:0007944 Intermittent microsaccadic pursuits
HP:0002572 Episodic vomiting
HP:0007957 Corneal opacity
HP:0003557 Increased variability in muscle fiber diameter
HP:0007029 Cerebral berry aneurysm
HP:0011604 Aortopulmonary window
HP:0000445 Wide nose
HP:3000009 Abnormality of nasalis muscle
HP:0006409 Progressive leg bowing
HP:0100213 Absent epiphysis of the middle phalanx of the 5th toe
HP:0011315 Unicoronal synostosis
HP:0000726 Dementia
HP:0002478 Progressive spastic quadriplegia
HP:0025053 Elevated brain N-acetyl aspartate level by MRS
HP:0030888 C3 nephritic factor positivity
HP:0000218 High palate
HP:0002724 Recurrent Aspergillus infections
HP:0100114 Enlarged epiphysis of the middle phalanx of the 2nd toe
HP:0010571 Elevated levels of phytanic acid
HP:0012592 Albuminuria
HP:0200134 Epileptic encephalopathy
HP:0011109 Chronic sinusitis
HP:0000487 Congenital strabismus
HP:0004385 Protracted diarrhea
HP:0009276 Contracture of the proximal interphalangeal joint of the 4th finger
HP:0011065 Conical incisor
HP:0400008 Menometrorrhagia
HP:0003367 Abnormality of the femoral neck
HP:0030033 Small finger
HP:0006566 Neonatal cholestatic liver disease
HP:0100400 Duplication of the distal phalanx of the 5th toe
HP:0006579 Prolonged neonatal jaundice
HP:0011191 Unilateral multifocal epileptiform discharges
HP:0009281 Aplasia of the 4th finger
HP:0030267 Calcification of the interosseus membrane of the forearm
HP:0030329 Retinal thinning
HP:0011942 Increased urinary sulfite
HP:0007209 Facial paralysis
HP:0100627 Displacement of the external urethral meatus
HP:0002250 Abnormality of the large intestine
HP:0005400 Reduction of neutrophil motility
HP:0004788 Intestinal lymphedema
HP:0200102 Sparse or absent eyelashes
HP:0002436 Occipital meningocele
HP:0040108 Morphological abnormality of the anterior semicircular canal
HP:0012713 Moderate hearing impairment
HP:0025110 Placoid macular lesion
HP:0100669 Abnormal pigmentation of the oral mucosa
HP:0000509 Conjunctivitis
HP:0009898 Underdeveloped crus of the helix
HP:0010599 Abnormality of the distal humeral epiphysis
HP:0100533 Inflammatory abnormality of the eye
HP:0005203 Spontaneous esophageal perforation
HP:0006302 Dagger-shaped pulp calcifications
HP:0003463 Increased extraneuronal autofluorescent lipopigment
HP:0007421 Telangiectases of the cheeks
HP:0009053 Distal lower limb muscle weakness
HP:0001904 Autoimmune neutropenia
HP:0100914 Sclerosis of the 1st metacarpal
HP:0430009 Hypoplasia of eyelid
HP:0006978 Dysmyelinating leukodystrophy
HP:0007994 Peripheral visual field loss
HP:0100888 Interdigital loops
HP:0010009 Abnormality of the 1st metacarpal
HP:0011504 Bull's eye maculopathy
HP:0100084 Pseudoepiphyses of the 5th toe
HP:0012231 Exudative retinal detachment
HP:0030749 Grade II preterm intraventricular hemorrhage
HP:0011624 Apical muscular ventricular septal defect
HP:0002555 Absent pubic hair
HP:0025100 Abnormal morphology of the hippocampus
HP:0000532 Chorioretinal abnormality
HP:0011127 Perioral eczema
HP:0002232 Patchy alopecia
HP:0009399 Ivory epiphyses of the 4th finger
HP:0000776 Congenital diaphragmatic hernia
HP:0002359 Frequent falls
HP:0003260 Hydroxyprolinemia
HP:0100765 Abnormality of the tonsils
HP:0100953 Enlarged interhemispheric fissure
HP:0100920 Sclerosis of 4th finger phalanx
HP:0009346 Absent epiphysis of the proximal phalanx of the 3rd finger
HP:0008736 Hypoplasia of penis
HP:0011157 Auras
HP:0005947 Decreased sensitivity to hypoxemia
HP:0004502 Bilateral choanal atresia
HP:0000095 Abnormality of the glomerulus
HP:0008475 Hypoplastic sacral vertebrae
HP:0011701 Multifocal atrial tachycardia
HP:0009132 Abnormal tarsal bone mineral density
HP:0002546 Incomprehensible speech
HP:0000576 Centrocecal scotoma
HP:0009294 Absent middle phalanx of 4th finger
HP:0004371 Abnormality of glycosaminoglycan metabolism
HP:0011643 Coronary sinus atrial septal defect
HP:0000243 Trigonocephaly
HP:0008483 Cervical vertebral bodies with decreased anteroposterior diameter
HP:0000764 Peripheral axonal degeneration
HP:0008610 Infantile sensorineural hearing impairment
HP:0040194 Increased head circumference
HP:0100073 Pseudoepiphyses of the 4th toe
HP:0100186 Ivory epiphysis of the middle phalanx of the 4th toe
HP:0005397 Exaggerated cellular immune processes
HP:0008527 Congenital sensorineural hearing impairment
HP:0001751 Vestibular dysfunction
HP:0009819 Lower limb phocomelia
HP:0040040 Onycholysis of toenails
HP:0012579 Minimal change glomerulonephritis
HP:0100374 Aplasia/Hypoplasia of the middle phalanx of the 5th toe
HP:0011756 Posterior pituitary agenesis
HP:0009004 Hypoplasia of the musculature
HP:0100450 Curved distal phalanx of the 4th toe
HP:0100457 Osteolytic defects of the proximal phalanx of the 5th toe
HP:0100180 Absent epiphysis of the middle phalanx of the 4th toe
HP:0030533 Abnormal unaided visual acuity test
HP:0001476 Delayed closure of the anterior fontanelle
HP:0003909 Cortical subperiosteal resorption of humeral metaphyses
HP:0008732 Renal hypophosphatemia
HP:0002023 Anal atresia
HP:0003683 Large beaked nose
HP:0012721 Venous malformation
HP:0001510 Growth delay
HP:0009335 Absent epiphysis of the distal phalanx of the 3rd finger
HP:0009931 Enlarged naris
HP:0030188 Tremor by anatomical site
HP:0012566 Premature epimetaphyseal fusion in radius
HP:0003349 Low cholesterol esterification rates
HP:0005561 Abnormality of bone marrow cell morphology
HP:0008158 Hyperapobetalipoproteinemia
HP:0025112 Sound sensitivity
HP:0002198 Dilated fourth ventricle
HP:0008765 Auditory hallucinations
HP:0003076 Glycosuria
HP:0009450 Broad proximal phalanx of the 3rd finger
HP:0000558 Rieger anomaly
HP:0005219 Absence of intrinsic factor
HP:0030830 Rales
HP:0007348 Hypoplasia of the pyramidal tract
HP:0200064 Asymmetry of iris pigmentation
HP:0004635 Cervical C5/C6 vertebrae fusion
HP:0011944 Small vessel vasculitis
HP:0000053 Macroorchidism
HP:0010829 Impaired temperature sensation
HP:0000947 Dumbbell-shaped long bone
HP:0008695 Transient nephrotic syndrome
HP:0000789 Infertility
HP:0000525 Abnormality of the iris
HP:0011675 Arrhythmia
HP:0100362 Aplasia of the phalanges of the 3rd toe
HP:0002828 Multiple joint contractures
HP:0100829 Galactorrhea
HP:0009141 Depletion of mitochondrial DNA in muscle tissue
HP:0008285 Transient hypophosphatemia
HP:0030847 Abnormal jugular venous pressure
HP:0011614 Interrupted aortic arch type C
HP:0008371 Abnormal metatarsal ossification
HP:0011887 Choroid hemorrhage
HP:0012853 Scrotal hypospadias
HP:0008279 Transient hyperlipidemia
HP:0011981 Pigment gallstones
HP:0100227 Enlarged epiphysis of the proximal phalanx of the 5th toe
HP:0025119 Violet lip discoloration
HP:0011820 Membranous choanal atresia
HP:0006784 Paranasal sinus hypoplasia
HP:0000590 Progressive external ophthalmoplegia
HP:0010977 Abnormality of phagocytes
HP:0030756 Erythrodontia
HP:0006812 White mater abnormalities in the posterior periventricular region
HP:0005648 Bilateral ulnar hypoplasia
HP:0003258 Glyoxalase deficiency
HP:0010374 Curved 4th toe phalanx
HP:0007812 Herpetiform corneal ulceration
HP:0001928 Abnormality of coagulation
HP:0000458 Anosmia
HP:0030356 Increased serum interferon-gamma level
HP:0012664 Reduced ejection fraction
HP:0005348 Inspiratory stridor
HP:0030177 Abnormality of peripheral nervous system electrophysiology
HP:0001986 Hypertonic dehydration
HP:0008501 Median cleft lip and palate
HP:0012684 Abnormal pineal volume
HP:0001877 Abnormality of erythrocytes
HP:0011541 Criss-cross atrioventricular valves
HP:0100892 Abnormality of the xiphoid process
HP:0012207 Reduced sperm motility
HP:0001465 Amyotrophy involving the shoulder musculature
HP:0004876 Spontaneous neonatal pneumothorax
HP:0003844 Small epiphyses of the upper limbs
HP:0100525 Urachus fistula
HP:0007030 Nonprogressive encephalopathy
HP:0010011 Abnormality of the 3rd metacarpal
HP:0100795 Abnormally straight spine
HP:0009184 Contracture of the distal interphalangeal joint of the 5th finger
HP:0006984 Distal sensory loss of all modalities
HP:0005321 Mandibulofacial dysostosis
HP:0012776 Abnormality of the ciliary body
HP:0100884 Compensatory scoliosis
HP:0005974 Episodic ketoacidosis
HP:0008082 Medial deviation of the foot
HP:0012763 Paroxysmal dyspnea
HP:0008559 Hypoplastic superior helix
HP:0007589 Aplasia cutis congenita on trunk or limbs
HP:0011477 Upbeat nystagmus
HP:0040182 Inappropriate sinus tachycardia
HP:0006491 Abnormality of the tibial metaphysis
HP:0006483 Abnormal number of teeth
HP:0011671 Interrupted inferior vena cava with azygous continuation
HP:0000547 Tapetoretinal degeneration
HP:0100783 Breast aplasia
HP:0100382 Aplasia of the middle phalanx of the 4th toe
HP:0006507 Aplasia/hypoplasia of the humerus
HP:0007727 Opacification of the corneal epithelium
HP:0010857 EEG with periodic abnormalities
HP:0002173 Hypoglycemic seizures
HP:0008843 Hip osteoarthritis
HP:0000599 Abnormality of the frontal hairline
HP:0012108 Primary open angle glaucoma
HP:0001669 Transposition of the great arteries
HP:0011432 High maternal serum alpha-fetoprotein
HP:0003316 Butterfly vertebrae
HP:0003128 Lactic acidosis
HP:0010692 2-5 finger syndactyly
HP:0002110 Bronchiectasis
HP:0005477 Progressive sclerosis of skull base
HP:0001467 Aplasia/Hypoplasia involving the musculature of the upper limbs
HP:0012417 Hypocapnia
HP:0011732 Abnormality of adrenal morphology
HP:0006577 Macronodular cirrhosis
HP:0003999 Abnormality of radial epiphyses
HP:0000433 Abnormality of the nasal mucosa
HP:0010697 Anterior pyramidal cataract
HP:0001561 Polyhydramnios
HP:0025312 Esophoria
HP:0025133 Abnormal serum estradiol
HP:0200057 Marcus Gunn pupil
HP:0005256 Unilateral absence of pectoralis major muscle
HP:0010220 Abnormality of the epiphysis of the 2nd metacarpal
HP:0025066 Decreased mean corpuscular volume
HP:0000804 Xanthine nephrolithiasis
HP:0007366 Atrophy/Degeneration affecting the brainstem
HP:0012444 Brain atrophy
HP:0011014 Abnormal glucose homeostasis
HP:0008942 Acute rhabdomyolysis
HP:0004488 Macrocephaly at birth
HP:0003184 Decreased hip abduction
HP:0012021 Persistent patent ductus venosus
HP:0008290 Partial complement factor H deficiency
HP:0000591 Abnormality of the sclera
HP:0006121 Acral ulceration leading to autoamputation of digits
HP:0001265 Hyporeflexia
HP:0007338 Hypermetric saccades
HP:0006239 Shortening of all middle phalanges of the toes
HP:0001272 Cerebellar atrophy
HP:0004942 Aortic aneurysm
HP:0005453 Absent/hypoplastic paranasal sinuses
HP:0009443 Osteolytic defects of the phalanges of the 3rd finger
HP:0008706 Distal urethral duplication
HP:0002221 Absent axillary hair
HP:0005212 Anal mucosal leukoplakia
HP:0009649 Aplasia of the distal phalanx of the thumb
HP:0007521 Irregular hyperpigmentation of back
HP:0009405 Bullet-shaped phalanges of the 4th finger
HP:0200106 Absent/shortened dynein arms
HP:0008053 Aplasia/Hypoplasia of the iris
HP:0006140 Premature fusion of phalangeal epiphyses
HP:0010679 Elevated tissue non-specific alkaline phosphatase
HP:0011173 Hypokinetic seizures
HP:0007164 Slowed slurred speech
HP:0003564 Folate-dependent fragile site at Xq28
HP:0006398 Flat distal femoral epiphysis
HP:0010145 Pseudoepiphysis of the distal phalanx of the hallux
HP:0025360 Polycalycosis
HP:0030237 Hand muscle weakness
HP:0001211 Abnormality of the fingertips
HP:0008060 Aplasia/Hypoplasia of the fovea
HP:0001892 Abnormal bleeding
HP:0007709 Band-shaped corneal dystrophy
HP:0007023 Antenatal intracerebral hemorrhage
HP:0010211 Duplication of proximal phalanx of toe
HP:0100792 Acantholysis
HP:0008473 Narrow anterio-posterior vertebral body diameter
HP:0001513 Obesity
HP:0005972 Respiratory acidosis
HP:0001238 Slender finger
HP:0010541 Cutis gyrata of scalp
HP:0002156 Homocystinuria
HP:0008541 Superiorly displaced ears
HP:0002929 Leydig cell insensitivity to gonadotropin
HP:0010508 Metatarsus valgus
HP:0000568 Microphthalmia
HP:0004308 Ventricular arrhythmia
HP:0007396 Early cutaneous photosensitivity
HP:0001888 Lymphopenia
HP:0000739 Anxiety
HP:0000490 Deeply set eye
HP:0410011 Abnormality of masticatory muscle
HP:0006276 Hyperechogenic pancreas
HP:0003100 Slender long bone
HP:0011263 Forward facing earlobe
HP:0030527 Peripheral visual field constriction with <10 degrees central field preserved
HP:0001805 Thick nail
HP:0008401 Onychogryposis of toenails
HP:0001022 Albinism
HP:0012863 Abnormal male germ cell morphology
HP:0030845 Heliotrope rash of eyelid
HP:0007886 Absent extraocular muscles
HP:0400002 Extra concha fold
HP:0100662 Chondritis
HP:0002039 Anorexia
HP:0008124 Talipes calcaneovarus
HP:0008301 Dermatan sulfate excretion in urine
HP:0010752 Cleft mandible
HP:0003296 Hyperthreoninuria
HP:0040128 Abnormal sweat electrolytes
HP:0005894 Double first metacarpals
HP:0000486 Strabismus
HP:0003899 Round humeral epiphyses
HP:0000378 Cupped ear
HP:0001543 Gastroschisis
HP:0010091 Symphalangism affecting the proximal phalanx of the hallux
HP:0100901 Sclerosis of the distal phalanx of the 3rd finger
HP:0007462 Bitot spots of the conjunctiva
HP:0010030 Osteolytic defects of the 1st metacarpal
HP:0001454 Abnormality of the upper arm
HP:0011189 Bilateral multifocal epileptiform discharges
HP:0030133 Abnormal presence of ultra-large von Willebrand factor multimers
HP:0040066 Abnormal morphology of bones of the lower limbs
HP:0004305 Involuntary movements
HP:0010079 Curved distal phalanx of the hallux
HP:0010197 Curved middle toe phalanx
HP:0010182 Abnormality of the distal phalanges of the toes
HP:0012486 Myelitis
HP:0010359 Aplasia/Hypoplasia of the phalanges of the 3rd toe
HP:0011123 Inflammatory abnormality of the skin
HP:0009606 Complete duplication of distal phalanx of the thumb
HP:0008640 Congenital macroorchidism
HP:0008064 Ichthyosis
HP:0030937 Fibrotic muscularis propria
HP:0030022 Question mark ear
HP:0030622 Abnormal foveal pit on macular OCT
HP:0012692 Focal T2 hyperintense thalamic lesion
HP:0003073 Hypoalbuminemia
HP:0009901 Crumpled ear
HP:0030165 Temporal artery tortuosity
HP:0003040 Arthropathy
HP:0005788 Abnormal cervical myelogram
HP:0012374 Abnormality of the globe
HP:0001137 Alternating esotropia
HP:0001902 Giant platelets
HP:0004353 Abnormality of pyrimidine metabolism
HP:0030296 Metaphyseal chondromatosis of radius
HP:0100145 Triangular epiphysis of the distal phalanx of the 3rd toe
HP:0040255 Aplasia/Hypoplasia of the clitoris
HP:0000152 Abnormality of head or neck
HP:0006817 Aplasia/Hypoplasia of the cerebellar vermis
HP:0100480 Proximal/middle symphalangism of 3rd toe
HP:0002123 Generalized myoclonic seizures
HP:0006436 Shortening of the tibia
HP:0030284 Triangular tongue
HP:0040262 Glue ear
HP:0009965 Complete duplication of the distal phalanx of the 3rd finger
HP:0001602 Laryngeal stenosis
HP:0011497 Iris neovascularization
HP:0009297 Osteolytic defects of the middle phalanx of the 4th finger
HP:0011652 Double outlet right ventricle with doubly committed ventricular septal defect without pulmonary stenosis
HP:0000275 Narrow face
HP:0001658 Myocardial infarction
HP:0100049 Irregular epiphyses of the 2nd toe
HP:0011653 Double outlet right ventricle with non-committed ventricular septal defect and pulmonary stenosis
HP:0005274 Prominent nasal tip
HP:0002256 Small bowel diverticula
HP:0010184 Abnormality of toe proximal phalanx
HP:0040210 Abnormal level of biopterin
HP:0010207 Osteolytic defect of the proximal toe phalanx
HP:0000068 Urethral atresia
HP:0005620 Hypermobility of interphalangeal joints
HP:0001541 Ascites
HP:0004933 Ascending aortic dissection
HP:0003921 Laterally sloping humeral metaphysis
HP:0011255 Absent crus of helix
HP:0003561 Birth length less than 3rd percentile
HP:0025192 Subtentorial periventricular white matter hyperdensity
HP:0006108 Tapered metacarpals
HP:0004046 Spurred ulnar metaphysis
HP:0040264 Jaw pain
HP:0012554 Absent thumbnail
HP:0012238 Hyperchylomicronemia
HP:0030151 Cholangitis
HP:0025231 Abnormality of synovial bursa morphology
HP:0010073 Synostosis involving the 1st metatarsal
HP:0012667 Regional left ventricular wall motion abnormality
HP:0012437 Abnormal gallbladder morphology
HP:0001698 Pericardial effusion
HP:0008162 Asymptomatic hyperammonemia
HP:0001395 Hepatic fibrosis
HP:0010500 Hyperextensibility of the knee
HP:0000295 Doll-like facies
HP:0012225 Oligodontia of primary teeth
HP:0100038 Slow-growing scalp hair
HP:0011789 Thyroid-stimulating hormone receptor defect
HP:0010745 Aplasia of the phalanges of the toes
HP:0100176 Pseudoepiphysis of the distal phalanx of the 4th toe
HP:0001119 Keratoglobus
HP:0008031 Posterior Y-sutural cataract
HP:0010514 Hyperpituitarism
HP:0430002 Abnormality of the lacrimal bone
HP:3000076 Abnormality of lingual tonsil
HP:0009805 Low-output congestive heart failure
HP:0010412 Duplication of the middle phalanx of the 2nd toe
HP:0005687 Deformed humeral heads
HP:0045025 Narrow palpebral fissure
HP:0025097 Eyelid myoclonus
HP:0030724 Central nervous system cyst
HP:0009727 Achromatic retinal patches
HP:0005194 Flattened metatarsal heads
HP:0002317 Unsteady gait
HP:0010770 Pilonidal fistula
HP:0000787 Nephrolithiasis
HP:0003400 Basal lamina 'onion bulb' formation
HP:0012083 Ubiquitin-positive cerebral inclusion bodies
HP:0100194 Enlarged epiphysis of the proximal phalanx of the 4th toe
HP:0007328 Impaired pain sensation
HP:0011813 Increased cerebral lipofuscin
HP:0030336 Absence of CD4-positive, CD25-positive regulatory T cells
HP:0001776 Bilateral talipes equinovarus
HP:0001195 Single umbilical artery
HP:0003358 Elevated intracellular cystine
HP:0009682 Pseudoepiphysis of the distal phalanx of the thumb
HP:0000790 Hematuria
HP:0009948 Duplication of the distal phalanx of the 2nd finger
HP:0011873 Abnormal platelet count
HP:0007009 Central nervous system degeneration
HP:0005886 Aphalangy of the hands
HP:0100760 Clubbing of toes
HP:0001308 Tongue fasciculations
HP:0011658 Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis
HP:0002301 Hemiplegia
HP:0002542 Olivopontocerebellar atrophy
HP:0006270 Hypoplastic spleen
HP:0010253 Pseudoepiphyses of the distal phalanges of the hand
HP:0011285 Long-segment aganglionic megacolon
HP:0040117 Atresia of the Eustachian tube
HP:0011695 Cerebellar hemorrhage
HP:0011510 Drusen
HP:0005891 Progressive forearm bowing
HP:0001136 Retinal arteriolar tortuosity
HP:0001055 Erysipelas
HP:0005895 Radial deviation of thumb terminal phalanx
HP:0030717 Meconium peritonitis
HP:0011987 Ectopic ossification in muscle tissue
HP:0005478 Prominent frontal sinuses
HP:0009754 Fibrous syngnathia
HP:0001135 Chorioretinal dystrophy
HP:0004000 Chevron-shaped/cone-shaped radial epiphyses
HP:0002367 Visual hallucinations
HP:0002176 Spinal cord compression
HP:0003908 Corner fracture of metaphysis
HP:0002728 Chronic mucocutaneous candidiasis
HP:0100279 Ulcerative colitis
HP:0003558 Viral infection-induced rhabdomyolysis
HP:0002378 Hand tremor
HP:0030443 Anal margin basal cell carcinoma
HP:0001896 Reticulocytopenia
HP:0008277 Abnormality of zinc homeostasis
HP:0011145 Symptomatic seizures
HP:0004923 Hyperphenylalaninemia
HP:0005199 Aplasia of the abdominal wall musculature
HP:0002577 Abnormality of the stomach
HP:0008119 Deformed tarsal bones
HP:0004320 Vaginal fistula
HP:0040229 Decreased level of thrombomodulin
HP:0009209 Ivory epiphysis of the middle phalanx of the 5th finger
HP:0000029 Testicular atrophy
HP:0001685 Myocardial fibrosis
HP:0001757 High-frequency sensorineural hearing impairment
HP:0011894 Impaired thromboxane A2 agonist-induced platelet aggregation
HP:0008994 Proximal muscle weakness in lower limbs
HP:0030314 Periostosis
HP:0012696 Abnormal thalamic MRI signal intensity
HP:0011013 Abnormality of carbohydrate metabolism/homeostasis
HP:0030348 Increased circulating androgen level
HP:0025023 Rectal atresia
HP:0100908 Sclerosis of the proximal phalanx of the 2nd finger
HP:0000418 Narrow nasal ridge
HP:0012442 Gallbladder dyskinesia
HP:0009375 Bullet-shaped phalanges of the 5th finger
HP:0005736 Short tibia
HP:0012158 Carotid artery dissection
HP:0003225 Reduced factor V activity
HP:0008026 Horizontal opticokinetic nystagmus
HP:0030218 Punding
HP:0004421 Elevated systolic blood pressure
HP:0030190 Oral motor hypotonia
HP:0004966 Medial calcification of large arteries
HP:0012338 Abnormal energy expenditure
HP:0009998 Complete duplication of phalanx of hand
HP:0011574 Imperforate atrioventricular valve
HP:0011379 Dilated vestibule of the inner ear
HP:0004287 Pointed hand bones
HP:0000063 Fused labia minora
HP:0011766 Abnormality of the parathyroid morphology
HP:0005464 Craniofacial osteosclerosis
HP:0010045 Aplasia/Hypoplasia of the 5th metacarpal
HP:0010016 Bracket epiphysis of the 1st metacarpal
HP:0002733 Abnormality of the lymph nodes
HP:0000463 Anteverted nares
HP:0025203 Caput medusae
HP:0000159 Abnormality of the lip
HP:0009271 Triangular epiphysis of the proximal phalanx of the 4th finger
HP:0000603 Central scotoma
HP:0030569 Pinhole visual acuity 0.1 LogMAR
HP:0040156 Elevated urinary carboxylic acid
HP:0012542 Onychauxis
HP:0004890 Elevated pulmonary artery pressure
HP:0030874 Oxygen desaturation on exertion
HP:0004938 Tortuous cerebral arteries
HP:0030719 Unguarded tricuspid valve
HP:0100019 Cortical cataract
HP:0012100 Abnormal circulating creatinine level
HP:0008479 Hypoplastic vertebral bodies
HP:0010897 Hypersarcosinuria
HP:0000465 Webbed neck
HP:0010189 Osteolytic defects of the distal phalanges of the toes
HP:0100930 Sclerosis of hallux phalanx
HP:0011445 Athetoid cerebral palsy
HP:0100134 Abnormality of the axillary hair
HP:0100360 Contractures of the joints of the upper limbs
HP:0012113 Abnormality of creatine metabolism
HP:0008635 Hypertrophy of the urinary bladder
HP:0010285 Oral synechia
HP:0004461 Congenital earlobe sinuses
HP:0100704 Cortical visual impairment
HP:0030795 Reduced C-peptide level
HP:0100692 Increased corneal curvature
HP:0100811 Aplasia/Hypoplasia of the colon
HP:0008161 Absent leukocyte alkaline phosphatase
HP:0000890 Long clavicles
HP:0007313 Cerebral degeneration
HP:0010925 Nuclear punctate cataract
HP:0100000 Early onset of sexual maturation
HP:0002630 Fat malabsorption
HP:0009444 Patchy sclerosis of 3rd finger phalanx
HP:0000654 Decreased light- and dark-adapted electroretinogram amplitude
HP:0011468 Facial tics
HP:0030141 Abnormality of the posterior hairline
HP:0009261 Absent epiphysis of the proximal phalanx of the 4th finger
HP:0012788 Reticulate pigmentation of oral mucosa
HP:0000836 Hyperthyroidism
HP:0007076 Extrapyramidal muscular rigidity
HP:0006323 Premature loss of primary teeth
HP:0012109 Primary angle closure glaucoma
HP:0010831 Impaired proprioception
HP:0002813 Abnormality of limb bone morphology
HP:0010187 Bullet-shaped distal toe phalanx
HP:0030908 Liver kidney microsome type 1 antibody positivity
HP:0009324 Enlarged epiphysis of the middle phalanx of the 3rd finger
HP:0040184 Oral bleeding
HP:0010755 Asymmetry of the maxilla
HP:0004307 Abnormal anatomic location of the heart
HP:0012367 Extra fontanelles
HP:0410009 Abnormality of the somatic nervous system
HP:0002249 Melena
HP:0030211 Slow pupillary light response
HP:0004625 Biconvex vertebral bodies
HP:0011195 EEG with focal sharp slow waves
HP:0006185 Enlarged proximal interphalangeal joints
HP:0002725 Systemic lupus erythematosus
HP:0003091 Trophic limb changes
HP:0009674 Triangular epiphysis of the proximal phalanx of the thumb
HP:0003164 Hypothalamic gonadotropin-releasing hormone deficiency
HP:0012762 Cerebral white matter atrophy
HP:0010529 Echolalia
HP:0002480 Hepatic encephalopathy
HP:0025331 Upgaze palsy
HP:0009499 Abnormality of the epiphysis of the distal phalanx of the 2nd finger
HP:0011611 Interrupted aortic arch
HP:0030871 Facet joint arthrosis
HP:0005141 Episodes of ventricular tachycardia
HP:0011998 Postprandial hyperglycemia
HP:0010715 2-5 toe syndactyly
HP:0007286 Horizontal jerk nystagmus
HP:0007249 Decreased number of small peripheral myelinated nerve fibers
HP:0012606 Renal sodium wasting
HP:0010607 Hordeolum externum
HP:0000091 Abnormality of the renal tubule
HP:0010834 Trophic changes related to pain
HP:0012046 Areflexia of upper limbs
HP:0011540 Congenitally corrected transposition of the great arteries
HP:0000593 Abnormality of the anterior chamber
HP:0000848 Increased circulating renin level
HP:0025141 Gingival calcification
HP:0009220 Ivory epiphysis of the middle phalanx of the 4th finger
HP:0011662 Tricuspid atresia
HP:0003068 Madelung-like forearm deformities
HP:0006785 Limb-girdle muscular dystrophy
HP:0006326 Buried teeth encased in mucopolysaccharide
HP:0009385 Enlarged epiphyses of the 5th finger
HP:0003186 Inverted nipples
HP:0001233 2-3 finger syndactyly
HP:0003235 Hypermethioninemia
HP:0000121 Nephrocalcinosis
HP:0011122 Abnormality of skin physiology
HP:0003180 Flat acetabular roof
HP:0002742 Recurrent Klebsiella infections
HP:0007377 Abnormality of somatosensory evoked potentials
HP:0011348 Abnormality of the sixth cranial nerve
HP:0002958 Immune dysregulation
HP:0025151 Ganglioneuromatosis
HP:0010349 Bullet-shaped 2nd toe phalanx
HP:0007483 Depigmentation/hyperpigmentation of skin
HP:0007417 Discoid lupus rash
HP:0430016 Abnormality of tensor veli palatini muscle
HP:0200034 Papule
HP:0040212 Risus sardonicus
HP:0012399 Pressure ulcer
HP:0100486 Symphalangism of the proximal phalanx of the 5th toe with the 5th metatarsal
HP:0005619 Thoracolumbar kyphosis
HP:0006685 Endocardial fibrosis
HP:0012769 Abnormal arm span
HP:0100197 Ivory epiphysis of the proximal phalanx of the 4th toe
HP:0030304 Abnormal number of vertebrae
HP:0003849 Flared upper limb metaphysis
HP:0012510 Extra-axial cerebrospinal fluid accumulation
HP:0007451 Ipsilateral lack of facial sweating
HP:0002913 Myoglobinuria
HP:0001482 Subcutaneous nodule
HP:0030546 Unaided visual acuity 1.1 LogMAR
HP:0002193 Pseudobulbar behavioral symptoms
HP:0000818 Abnormality of the endocrine system
HP:0005476 Widely patent sagittal suture
HP:0009127 Abnormality of the musculature of the limbs
HP:0040090 Abnormality of the tympanic membrane
HP:0011449 Knee clonus
HP:0010680 Elevated alkaline phosphatase of renal origin
HP:0006180 Crowded carpal bones
HP:0012096 Intracranial epidermoid cyst
HP:0003387 Decreased number of large peripheral myelinated nerve fibers
HP:0011428 Short fetal femur length
HP:0005113 Dilatation of the aortic arch
HP:0009439 Short middle phalanx of the 3rd finger
HP:0025174 Irregular septal thickening
HP:0005815 Supernumerary ribs
HP:0005625 Osteoporosis of vertebrae
HP:0002185 Neurofibrillary tangles
HP:0030500 Yellow/white lesions of the macula
HP:0000664 Synophrys
HP:0000622 Blurred vision
HP:0009980 Complete duplication of the proximal phalanx of the 4th finger
HP:0003328 Abnormal hair laboratory examination
HP:0000926 Platyspondyly
HP:0000758 Impaired use of nonverbal behaviors
HP:0003295 Impaired FSH and LH secretion
HP:0012240 Increased intramyocellular lipid droplets
HP:0002795 Functional respiratory abnormality
HP:0002395 Lower limb hyperreflexia
HP:0005268 Spontaneous abortion
HP:0010580 Enlarged epiphyses
HP:0011253 Type I cryptotia
HP:0006983 Slowly progressive spastic quadriparesis
HP:0011084 Hypocalcification of dental enamel
HP:0008909 Lethal short-limbed short stature
HP:0010732 Nodular changes affecting the eyelids
HP:0004437 Cranial hyperostosis
HP:0010208 Patchy sclerosis of proximal toe phalanx
HP:0100354 Contracture of the distal interphalangeal joint of the 4th toe
HP:0025140 Decreased serum estrone
HP:0011254 Type II cryptotia
HP:0011199 EEG with generalized sharp slow waves
HP:0100233 Stippling of the epiphysis of the proximal phalanx of the 5th toe
HP:0004038 Bony spikule of ulnar epiphyseal plate
HP:0012462 Chin myoclonus
HP:0030303 Hypoplastic anterior commissure
HP:0009396 Enlarged epiphyses of the 4th finger
HP:0010483 Amniotic constriction rings of arms
HP:0007818 Central heterochromia
HP:0003856 Upper limb metaphyseal widening
HP:0003344 3-Methylglutaric aciduria
HP:0000988 Skin rash
HP:0000886 Deformed rib cage
HP:0012049 Laryngeal dystonia
HP:0009511 Stippling of the epiphysis of the distal phalanx of the 2nd finger
HP:0008236 Isosexual precocious puberty
HP:0007083 Hyperactive patellar reflex
HP:0030335 Abnormal CD4-positive, CD25-positive, alpha-beta regulatory T cell count
HP:0002172 Postural instability
HP:0009207 Fragmentation of the epiphysis of the middle phalanx of the 5th finger
HP:0007522 Increased number of skin folds
HP:3000065 Abnormality of lacrimal artery
HP:0040140 Degeneration of the striatum
HP:0430028 Hyperplasia of the maxilla
HP:0000112 Nephropathy
HP:0011156 Focal autonomic seizures without altered responsiveness
HP:0003892 Absent humeral epiphyseal ossification
HP:0006311 Generalized microdontia
HP:0010295 Aplasia/Hypoplasia of the tongue
HP:0005901 Chronic recurrent multifocal osteomyelitis
HP:0002298 Absent hair
HP:0001963 Abnormal speech discrimination
HP:0002681 Deformed sella turcica
HP:0001397 Hepatic steatosis
HP:0002705 High, narrow palate
HP:0002248 Hematemesis
HP:0009457 Aplasia/Hypoplasia of the proximal phalanx of the 3rd finger
HP:0009577 Short middle phalanx of the 2nd finger
HP:0004751 Paroxysmal ventricular tachycardia
HP:0006237 Prominent interphalangeal joints
HP:0000316 Hypertelorism
HP:0009027 Foot dorsiflexor weakness
HP:0010095 Partial duplication of the proximal phalanx of the hallux
HP:0040033 Aplasia/Hypoplasia of the fifth metatarsal bone
HP:0004252 Abnormality of the trapezium
HP:0200113 Aphalangy of hands and feet
HP:0000860 Parathyroid hypoplasia
HP:0009397 Fragmentation of the epiphyses of the 4th finger
HP:0012152 Foveoschisis
HP:0010846 EEG with persistent abnormal rhythmic activity
HP:0008394 Congenital onychodystrophy
HP:0007603 Freckles in sun-exposed areas
HP:0008763 No social interaction
HP:0012503 Abnormality of the pituitary gland
HP:0002280 Enlarged cisterna magna
HP:0006286 Yellow-brown discoloration of the teeth
HP:0040079 Irregular dentition
HP:0030660 Furcate cord insertion
HP:0007103 Hypointensity of cerebral white matter on MRI
HP:0006615 Absent in utero rib ossification
HP:0011094 Overbite
HP:0009302 Bullet-shaped distal phalanx of the 4th finger
HP:0001637 Abnormality of the myocardium
HP:0004540 Congenital, generalized hypertrichosis
HP:0007984 Electronegative electroretinogram
HP:0008954 Intrinsic hand muscle atrophy
HP:0025035 Abnormal proerythroblast morphology
HP:0005262 Abnormality of the synovia
HP:0010853 EEG with periodic lateralized epileptiform discharges
HP:0006956 Dilation of lateral ventricles
HP:0003309 Ovoid thoracolumbar vertebrae
HP:0430015 Abnormality of musculature of pharynx
HP:0003502 Mild short stature
HP:0000012 Urinary urgency
HP:0000616 Miosis
HP:0008672 Calcium oxalate nephrolithiasis
HP:0025104 Capillary malformation
HP:0008366 Contractures involving the joints of the feet
HP:0008102 Expanded metatarsals with widened medullary cavities
HP:0030167 Antimitochondrial antibody positivity
HP:0012750 T2 hypointense brainstem
HP:0008460 Hypoplastic spinal processes
HP:0012017 EEG with parietal focal spikes
HP:0012389 Appendicular hypotonia
HP:0010565 Aplasia/Hypoplasia of the Epiglottis
HP:0005445 Widened posterior fossa
HP:0430029 Hyperplasia of the premaxilla
HP:0010709 2-4 finger syndactyly
HP:0012675 Iron accumulation in brain
HP:0008839 Hypoplastic pelvis
HP:0009138 Synostosis involving bones of the lower limbs
HP:0200107 Shortened inner dynein arms
HP:0003199 Decreased muscle mass
HP:0025339 Superficial episcleral hyperemia
HP:0008729 Absence of labia majora
HP:0000793 Membranoproliferative glomerulonephritis
HP:0012450 Chronic constipation
HP:0012732 Anorectal anomaly
HP:0009683 Small epiphysis of the distal phalanx of the thumb
HP:0012694 Enlarged thalamic volume
HP:0012791 Abnormal humeral ossification
HP:0012869 Acephalic spermatozoa
HP:0000388 Otitis media
HP:0001873 Thrombocytopenia
HP:0010242 Aplasia of the proximal phalanges of the hand
HP:0006095 Wide tufts of distal phalanges
HP:0010294 Palate fistula
HP:0025020 Elevated prostate-specific antigen level
HP:0030922 5-minute APGAR score of 2
HP:0030513 Difficulty adjusting from light to dark
HP:0007504 Diffuse slow skin atrophy
HP:0003898 Large humeral epiphyses
HP:0000700 Periapical radiolucency
HP:0001939 Abnormality of metabolism/homeostasis
HP:0006492 Aplasia/Hypoplasia of the fibula
HP:0007497 Focal friction-related palmoplantar hyperkeratosis
HP:0006834 Developmental stagnation at onset of seizures
HP:0040265 Upper limb muscle hypertrophy
HP:0011393 Aplasia of the vestibular nerve.
HP:0000842 Hyperinsulinemia
HP:0003881 Humeral sclerosis
HP:0011791 Inactivating thyroid-stimulating hormone receptor defect
HP:0007095 Frontoparietal polymicrogyria
HP:0006691 Pulmonic valve myxoma
HP:0010403 Duplication of the proximal phalanx of the 2nd toe
HP:0025041 Thalamic calcification
HP:0004603 Hyperconvex vertebral body endplates
HP:0100417 Partial duplication of the distal phalanx of the 4th toe
HP:0100724 Hypercoagulability
HP:0009205 Cone-shaped epiphysis of the middle phalanx of the 5th finger
HP:0006901 Impaired thermal sensitivity
HP:0003450 Axonal regeneration
HP:0008835 Multicentric femoral head ossification
HP:0010684 Low alkaline phosphatase of bone origin
HP:0011948 Acute respiratory tract infection
HP:0100071 Irregular epiphyses of the 4th toe
HP:0012212 Abnormal glomerular filtration rate
HP:0010470 Supernumerary testes
HP:0000488 Retinopathy
HP:0001204 Distal symphalangism of hands
HP:0012447 Abnormal myelination
HP:0012053 Low serum calcifediol
HP:0007398 Asymmetric, linear skin defects
HP:0004755 Supraventricular tachycardia
HP:0004053 Dysharmonic maturation of the hand bones
HP:0000248 Brachycephaly
HP:0004614 Spina bifida occulta at S1
HP:0008386 Aplasia/Hypoplasia of the nails
HP:0010631 Abnormality of the epiphyses of the feet
HP:0009208 Irregular epiphysis of the middle phalanx of the 5th finger
HP:0002816 Genu recurvatum
HP:0010026 Aplasia/Hypoplasia of the 1st metacarpal
HP:0005202 Helicobacter pylori infection
HP:0011582 Abdominal ectopia cordis
HP:0030374 Decreased memory B cell count
HP:0011051 Agenesis of premolar
HP:0003240 Increased phosphoribosylpyrophosphate synthetase
HP:0100770 Hyperperistalsis
HP:0011919 Pleural empyema
HP:0003642 Type I transferrin isoform profile
HP:0011487 Increased corneal thickness
HP:0040045 Abnormality of the hemidiaphragms
HP:0001156 Brachydactyly syndrome
HP:0009117 Aplasia/Hypoplasia of the maxilla
HP:0003882 Slender humerus
HP:0009922 Vascular remnant arising from the disc
HP:0001803 Nail pits
HP:0025022 Decreased erythrocyte sedimentation rate
HP:0001069 Episodic hyperhidrosis
HP:0009400 Pseudoepiphyses of the 4th finger
HP:0000456 Bifid nasal tip
HP:0012682 Pineal gland calcification
HP:0004047 Wide ulnar metaphysis
HP:0012704 Widened subarachnoid space
HP:0012849 Small intestinal bleeding
HP:0012394 Iodine contrast allergy
HP:0008335 Renal aminoaciduria
HP:0003787 Type 1 and type 2 muscle fiber minicore regions
HP:0005201 Anomalous splenoportal venous system
HP:0009642 Broad distal phalanx of the thumb
HP:0009851 Aplasia/Hypoplasia of the proximal phalanges of the hand
HP:0012086 Abnormal urinary color
HP:0010241 Short proximal phalanx of finger
HP:0010494 Acromelia of the lower limbs
HP:0000119 Abnormality of the genitourinary system
HP:0012228 Tension-type headache
HP:0002244 Abnormality of the small intestine
HP:0001655 Patent foramen ovale
HP:0030289 Flattened femoral epiphysis
HP:0000269 Prominent occiput
HP:0006070 Metacarpophalangeal joint contracture
HP:0001870 Acroosteolysis of distal phalanges (feet)
HP:0100925 Sclerosis of foot bone
HP:0009168 Bullet-shaped middle phalanx of the 5th finger
HP:0011767 Abnormality of the parathyroid physiology
HP:0000327 Hypoplasia of the maxilla
HP:0006568 Increased hepatic glycogen content
HP:0010196 Bullet-shaped middle toe phalanx
HP:0012425 Stercoral ulcer
HP:0010266 Stippling of the epiphyses of the middle phalanges of the hand
HP:0009516 Enlarged epiphysis of the middle phalanx of the 2nd finger
HP:0009738 Abnormality of the antihelix
HP:0045039 Osteolysis involving bones of the upper limbs
HP:0000995 Melanocytic nevus
HP:0000606 Abnormality of the periorbital region
HP:0008588 Slit-like opening of the exterior auditory meatus
HP:0010835 Dissociated sensory loss
HP:0000974 Hyperextensible skin
HP:0003249 Genital ulcers
HP:0012036 Sternocleidomastoid amyotrophy
HP:0000519 Congenital cataract
HP:0001737 Pancreatic cysts
HP:0045006 Aplasia of lymphatic vessels
HP:0100448 Curved proximal phalanx of the 5th toe
HP:0040077 Abnormal concentration of calcium in blood
HP:0100499 Tibial deviation of toes
HP:0040216 Hypoinsulinemia
HP:0011222 Depressed glabella
HP:0003146 Hypocholesterolemia
HP:0012480 Abnormality of cerebral veins
HP:0200070 Peripheral retinal atrophy
HP:0009406 Patchy sclerosis of 4th finger phalanx
HP:0011202 EEG with diffuse acceleration
HP:0007458 Focal hyperextensible skin
HP:0009390 Small epiphyses of the 5th finger
HP:0200105 Absent fifth toenail
HP:0011649 Patent ductus arteriosus after premature birth
HP:0009542 Abnormality of the distal phalanx of the 2nd finger
HP:0001337 Tremor
HP:0009722 Dental enamel pits
HP:0025234 Parasomnia
HP:0009992 Complete duplication of the middle phalanx of the 5th finger
HP:0008747 Cartilaginous ossification of larynx
HP:0000655 Vitreoretinal degeneration
HP:0001139 Choroideremia
HP:0002783 Recurrent lower respiratory tract infections
HP:0004944 Cerebral aneurysm
HP:0006266 Small placenta
HP:0010310 Chylothorax
HP:0030119 Abnormal muscle fiber calpain-3
HP:0011686 Abnormal coronary artery course
HP:0030652 Vitreous haze
HP:0004253 Absent trapezium
HP:0040015 Increased activity of mitochondrial respiratory chain
HP:0003922 Spurred humeral metaphysis
HP:0000666 Horizontal nystagmus
HP:0012127 Uraciluria
HP:0011307 Splayed toes
HP:0040146 D-2-hydroxyglutaric acidemia
HP:0040053 Long lower eyelashes
HP:0007289 Limb fasciculations
HP:0011343 Moderate global developmental delay
HP:0005473 Fusion of middle ear ossicles
HP:0007270 Atypical absence seizures
HP:0011289 EEG with temporal sharp slow waves
HP:0002240 Hepatomegaly
HP:0005092 Streaky metaphyseal sclerosis
HP:0011496 Corneal neovascularization
HP:0100178 Stippling of the epiphysis of the distal phalanx of the 4th toe
HP:0025333 Cortical thinning of foot bones
HP:0012651 Abasia
HP:0010874 Tendon xanthomatosis
HP:0009504 Cone-shaped epiphysis of the distal phalanx of the 2nd finger
HP:0000317 Facial myokymia
HP:0010082 Symphalangism affecting the distal phalanx of the hallux
HP:0009108 Aplasia/Hypoplasia involving the femoral head and neck
HP:0001730 Progressive hearing impairment
HP:0025271 Esophageal spasms
HP:0008993 Increased intraabdominal fat
HP:0009614 Bifid proximal phalanx of the thumb
HP:0012099 Abnormality of circulating catecholamine level
HP:0007968 Remnants of the hyaloid vascular system
HP:0040166 Abnormality of the periosteum
HP:0002366 Abnormal lower motor neuron morphology
HP:0000601 Hypotelorism
HP:0002690 Large sella turcica
HP:0005311 Agenesis of pulmonary vessels
HP:0000894 Short clavicles
HP:0008073 Low maternal serum estriol
HP:0007131 Acute demyelinating polyneuropathy
HP:0011585 Thoracic ectopia cordis
HP:0011436 Abnormal maternal serum screening
HP:0001746 Asplenia
HP:0030235 Extremely elevated creatine phosphokinase
HP:3000066 Abnormality of lacrimal sac
HP:0010730 Double eyebrow
HP:0012468 Chronic acidosis
HP:0009211 Small epiphysis of the middle phalanx of the 5th finger
HP:0001191 Abnormality of the carpal bones
HP:0100287 EMG: slow motor conduction
HP:0010386 Curved 5th toe phalanx
HP:0003716 Generalized muscular appearance from birth
HP:0011102 Ileal atresia
HP:0012154 Anhedonia
HP:0011941 Anterior wedging of L2
HP:0004493 Craniofacial hyperostosis
HP:0005133 Right ventricular dilatation
HP:0007717 Chronic irritative conjunctivitis
HP:0012255 Dynein arm defect of respiratory motile cilia
HP:0030813 Absent tonsils
HP:0030616 Foveal retinal pigment epithelial loss on macular OCT
HP:0006790 Cerebral cortex with spongiform changes
HP:0030490 Exudative vitreoretinopathy
HP:0012431 Episodic fatigue
HP:0004911 Episodic metabolic acidosis
HP:0003797 Limb-girdle muscle atrophy
HP:0003517 Birth length greater than 97th percentile
HP:0000742 Self-mutilation
HP:0002697 Parietal foramina
HP:0006499 Abnormality of femoral epiphysis
HP:0002145 Frontotemporal dementia
HP:0007015 Poor gross motor coordination
HP:0001171 Split hand
HP:0100277 Periauricular skin pits
HP:0005661 Salmonella osteomyelitis
HP:0001249 Intellectual disability
HP:0008189 Insulin insensitivity
HP:0005401 Recurrent candida infections
HP:0011135 Aplasia/Hypoplasia of the sweat glands
HP:0003448 Decreased sensory nerve conduction velocity
HP:0025139 Increased serum estrone
HP:0001648 Cor pulmonale
HP:0100577 Urinary bladder inflammation
HP:0002843 Abnormality of T cells
HP:0003368 Abnormality of the femoral head
HP:0010061 Curved hallux phalanx
HP:0001347 Hyperreflexia
HP:0002144 Tethered cord
HP:0004453 Overfolding of the superior helices
HP:0410013 Abnormality of the submandibular region
HP:0030602 Abnormal fundus autofluorescence imaging
HP:0100224 Absent epiphysis of the proximal phalanx of the 5th toe
HP:0100092 Abnormality of the epiphysis of the middle phalanx of the 3rd toe
HP:0100159 Cone-shaped epiphysis of the proximal phalanx of the 3rd toe
HP:0100731 Transverse facial cleft
HP:0007893 Progressive retinal degeneration
HP:0001227 Abnormality of the thenar eminence
HP:0012544 Elevated aldolase level
HP:0100536 Abnormality of the fascia
HP:0000377 Abnormality of the pinna
HP:0008866 Failure to thrive secondary to recurrent infections
HP:0009800 Maternal diabetes
HP:0030249 Enanthema
HP:0100115 Fragmentation of the epiphysis of the middle phalanx of the 2nd toe
HP:0010551 Paraplegia/paraparesis
HP:0002251 Aganglionic megacolon
HP:0002992 Abnormality of the tibia
HP:0010372 Broad phalanges of the 4th toe
HP:0006490 Abnormality of lower-limb metaphyses
HP:0010384 Broad phalanges of the 5th toe
HP:0008775 Abnormality of the prostate
HP:0011342 Mild global developmental delay
HP:0005225 Intestinal edema
HP:0006442 Hypoplasia of proximal fibula
HP:0045046 Decreased levels of acid labile subunit
HP:0100393 Short middle phalanx of the 4th toe
HP:0008138 Equinus calcaneus
HP:0009618 Abnormality of the proximal phalanx of the thumb
HP:0005302 Carotid artery tortuosity
HP:0001967 Diffuse mesangial sclerosis
HP:0007156 Asymmetric limb muscle stiffness
HP:0007104 Prolonged somatosensory evoked potentials
HP:0100438 Bullet-shaped proximal phalanx of the 4th toe
HP:0012552 Increased neutrophil nuclear projections
HP:0003085 Long fibula
HP:0007832 Pigmentation of the sclera
HP:0005653 Moderate generalized osteoporosis
HP:0007321 Deep white matter hypodensities
HP:0100548 Exstrophy
HP:0005247 Hypoplasia of the abdominal wall musculature
HP:0006208 Metaphyseal cupping of proximal phalanges
HP:0030258 Hyperpigmented genitalia
HP:0012889 Cervical endometriosis
HP:0011402 Demyelinating sensory neuropathy
HP:0002438 Cerebellar malformation
HP:0030829 Abnormal breath sound
HP:0030487 Abnormal P50/N95 ratio of pattern electroretinogram
HP:0008998 Pectoralis hypoplasia
HP:0008668 Gonadal dysgenesis, male
HP:0010902 Abnormality of glutamine family amino acid metabolism
HP:0030129 Impaired ristocetin cofactor assay activity
HP:0004224 Abnormality of the epiphysis of the middle phalanx of the 5th finger
HP:0011169 Generalized clonic seizures
HP:0011392 Abnormality of the vestibular nerve
HP:0100230 Ivory epiphysis of the proximal phalanx of the 5th toe
HP:0011193 EEG with focal spikes
HP:0010097 Partial duplication of the distal phalanx of the hallux
HP:0006598 Irregular ossification at anterior rib ends
HP:0007755 Juvenile epithelial corneal dystrophy
HP:0004372 Reduced consciousness/confusion
HP:0040155 Elevated urinary 3-hydroxybutyric acid
HP:0012122 Anterior uveitis
HP:0010549 Weakness due to upper motor neuron dysfunction
HP:0003382 Hypertrophic nerve changes
HP:0004914 Recurrent infantile hypoglycemia
HP:0012743 Abdominal obesity
HP:0007616 Nevus flammeus nuchae
HP:0009820 Lower limb peromelia
HP:0002092 Pulmonary arterial hypertension
HP:0001297 Stroke
HP:0100333 Unilateral cleft lip
HP:0001994 Renal Fanconi syndrome
HP:0007439 Generalized keratosis follicularis
HP:0003963 Lytic defects of the forearm bones
HP:0030328 Decreased osteoclast count
HP:0002570 Steatorrhea
HP:0002017 Nausea and vomiting
HP:0005173 Calcific aortic valve stenosis
HP:0009945 Duplication of phalanx of 2nd finger
HP:0010247 Bracket epiphyses of the distal phalanges of the hand
HP:0012884 Fallopian tube torsion
HP:0004279 Short palm
HP:0001302 Pachygyria
HP:0003298 Spina bifida occulta
HP:0000610 Abnormality of the choroid
HP:0001734 Annular pancreas
HP:0000217 Xerostomia
HP:0000710 Hyperorality
HP:0008776 Abnormality of the renal artery
HP:0400003 Focal absence of the external ear
HP:0010605 Chalazion
HP:0100539 Periorbital edema
HP:0008984 Neck muscle hypoplasia
HP:0004948 Vascular tortuosity
HP:0005559 Abnormality of the kinin-kallikrein system
HP:0005944 Bilateral lung agenesis
HP:0012110 Hypoplasia of the pons
HP:0010330 Abnormality of the phalanges of the 3rd toe
HP:0000960 Sacral dimple
HP:0010388 Patchy sclerosis of 5th toe phalanx
HP:0010819 Atonic seizures
HP:0011625 Multiple muscular ventricular septal defects
HP:0003251 Male infertility
HP:0007722 Retinal pigment epithelial atrophy
HP:0000108 Renal corticomedullary cysts
HP:0006456 Irregular proximal tibial epiphyses
HP:0008687 Hypoplasia of the prostate
HP:0009596 Aplasia of the proximal phalanx of the 2nd finger
HP:0011787 Central hypothyroidism
HP:0030476 Abnormal amplitude of dark-adapted dim flash electroretinogram
HP:0030155 Scrotal pain
HP:0012393 Allergy
HP:0003165 Elevated circulating parathyroid hormone level
HP:0002850 IgM deficiency
HP:0008396 Chronic monilial nail infection
HP:0002189 Excessive daytime sleepiness
HP:0100663 Synotia
HP:0030535 Abnormal pinhole visual acuity test
HP:0006232 Expanded metacarpals with widened medullary cavities
HP:0002313 Spastic paraparesis
HP:0011980 Cholesterol gallstones
HP:0011752 Neoplasm of the posterior pituitary
HP:0001197 Abnormality of prenatal development or birth
HP:0012773 Reduced upper to lower segment ratio
HP:0012246 Oculomotor nerve palsy
HP:0009566 Short distal phalanx of the 2nd finger
HP:0030586 Abnormal Ishihara plate test
HP:0002849 Absence of lymph node germinal center
HP:0000762 Decreased nerve conduction velocity
HP:0001187 Hyperextensibility of the finger joints
HP:0007232 Spinocerebellar tract disease in lower limbs
HP:0000512 Abnormal electroretinogram
HP:0004797 Multiple small bowel atresias
HP:3000031 Abnormality of anterior ethmoidal artery
HP:0010080 Osteolytic defects of the distal phalanx of the hallux
HP:0011685 Infra-aortic superior vena cava
HP:0007651 Ectropion of lower eyelids
HP:0004961 Pulmonary artery sling
HP:0009827 Amelia
HP:0010175 Bullet-shaped toe phalanx
HP:0100398 Duplication of the distal phalanx of the 3rd toe
HP:0011415 Calcified placenta
HP:0007066 Proximal limb muscle stiffness
HP:0002553 Highly arched eyebrow
HP:0100020 Posterior capsular cataract
HP:0030673 Erosive vitreoretinopathy
HP:0002656 Epiphyseal dysplasia
HP:0003717 Minimal subcutaneous fat
HP:0012717 Severe conductive hearing impairment
HP:0008591 Congenital conductive hearing impairment
HP:3000043 Abnormality of facial vein
HP:0002749 Osteomalacia
HP:0040020 Radial deviation of the 5th finger
HP:0002726 Recurrent Staphylococcus aureus infections
HP:0006336 Short dental roots
HP:0011378 Hypoplasia of the vestibule of the inner ear
HP:0011655 Double outlet right ventricle with subaortic ventricular septal defect and pulmonary stenosis
HP:0100406 Duplication of the proximal phalanx of the 5th toe
HP:0001433 Hepatosplenomegaly
HP:0004562 Beaking of vertebral bodies T12-L3
HP:0011786 Thyrotoxicosis with toxic single thyroid nodule
HP:0004927 Pulmonary artery dilatation
HP:0010339 Flexion contracture of the 4th toe
HP:0000692 Misalignment of teeth
HP:0002300 Mutism
HP:0012498 Nuchal cord
HP:0004398 Peptic ulcer
HP:0001810 Dystrophic toenail
HP:0004231 Carpal bone aplasia
HP:0004695 Calcaneal epiphyseal stippling
HP:0100232 Small epiphysis of the proximal phalanx of the 5th toe
HP:0004760 Congenital septal defect
HP:0005527 Reduced kininogen activity
HP:0030584 Color vision test abnormality
HP:0045001 Abnormal ossification of the trapezium
HP:0011129 Bilateral fetal pyelectasis
HP:0002127 Abnormal upper motor neuron morphology
HP:0010893 Abnormality of phenylalanine metabolism
HP:0003213 Deficient excision of UV-induced pyrimidine dimers in DNA
HP:0000878 11 pairs of ribs
HP:0007761 Pericentral scotoma
HP:0004422 Biparietal narrowing
HP:0000403 Recurrent otitis media
HP:0003658 Hypomethioninemia
HP:0004027 Abnormality of radial diaphysis
HP:0001421 Abnormality of the musculature of the hand
HP:0100021 Cerebral palsy
HP:0001800 Hypoplastic toenails
HP:0003945 Irregular articular surfaces of the elbow joints
HP:0100810 Pointed helix
HP:0100643 Abnormality of nail color
HP:0001966 Mesangial abnormality
HP:0002069 Generalized tonic-clonic seizures
HP:0005265 Abnormality of the jejunum
HP:0010778 Tracheomegaly
HP:0007677 Vitelliform-like macular lesions
HP:0011660 Anomalous origin of one pulmonary artery from ascending aorta
HP:0001627 Abnormal heart morphology
HP:0011149 Absence seizures with eyelid myoclonia
HP:0010894 Abnormality of serine family amino acid metabolism
HP:0011454 Abnormality of the malleus
HP:0100943 Sclerosis of the proximal phalanx of the hallux
HP:0100264 Proximal symphalangism
HP:0011822 Broad chin
HP:0001686 Loss of voice
HP:0012810 Wide nasal base
HP:0100864 Short femoral neck
HP:0030424 Epididymal cyst
HP:0007763 Retinal telangiectasia
HP:0007011 Fourth cranial nerve palsy
HP:0025154 Portosystemic collateral veins
HP:0040244 Prolonged Russell's viper venom time
HP:0010695 Sutural cataract
HP:0009357 Abnormality of the distal phalanx of the 3rd finger
HP:0007510 Focal dermal aplasia/hypoplasia
HP:0010306 Short thorax
HP:0100201 Triangular epiphysis of the proximal phalanx of the 4th toe
HP:0030265 Wide penis
HP:0200007 Abnormal size of the palpebral fissures
HP:0008484 Thoracolumbar interpediculate narrowness
HP:0007793 Granular macular appearance
HP:0025340 Deep episcleral hyperemia
HP:0005183 Pericardial lymphangiectasia
HP:0012885 Fallopian tube duplication
HP:0006599 Medial widening of clavicles
HP:0011187 Focal EEG discharges with propagation to ipsilateral hemisphere
HP:0010332 Deviation of the 3rd toe
HP:0007133 Progressive peripheral neuropathy
HP:0100540 Palpebral edema
HP:0012666 Severely reduced ejection fraction
HP:0030904 Glabellar reflex
HP:0003417 Coronal cleft vertebrae
HP:0011821 Abnormality of facial skeleton
HP:0006288 Advanced eruption of teeth
HP:0030576 Pinhole visual acuity 0.8 LogMAR
HP:3000024 Abnormality of facial artery
HP:0007535 Hypopigmented streaks
HP:0002166 Impaired vibration sensation in the lower limbs
HP:0008824 Hypoplastic iliac body
HP:0430013 Absent palatine bone ossification
HP:0012292 Fusion of gums
HP:0005498 Midline skin dimples over anterior/posterior fontanelles
HP:0008518 Aplasia/Hypoplasia involving the vertebral column
HP:0400000 Tall chin
HP:0007227 Macrogyria
HP:0007791 Patchy atrophy of the retinal pigment epithelium
HP:0011425 Fetal ultrasound soft marker
HP:0001555 Asymmetry of the thorax
HP:0001943 Hypoglycemia
HP:0025332 Abnormality of foot cortical bone
HP:0100209 Pseudoepiphysis of the distal phalanx of the 5th toe
HP:0003552 Muscle stiffness
HP:0007553 Congenital symmetrical palmoplantar keratosis
HP:0004491 Large posterior fontanelle
HP:0009180 Ulnar deviation of the 5th finger
HP:0004022 Sclerotic radial metaphysis with longitudinal striations
HP:0006587 Straight clavicles
HP:0010479 Patent urachus
HP:0011005 Mixed cirrhosis
HP:0000410 Mixed hearing impairment
HP:0003339 Pyrimidine-responsive megaloblastic anemia
HP:0010414 Broad distal phalanx of the 2nd toe
HP:0005831 Type B brachydactyly
HP:0003021 Metaphyseal cupping
HP:0030010 Hydrometrocolpos
HP:0011739 Dexamethasone-suppresible primary hyperaldosteronism
HP:0008141 Dislocation of toes
HP:0008430 Anterior beaking of lumbar vertebrae
HP:0002947 Cervical kyphosis
HP:0005528 Bone marrow hypocellularity
HP:0012184 Hyperalphalipoproteinemia
HP:0030629 Perifoveal ring of hyperautofluorescence
HP:0030214 Hypersexuality
HP:0001301 Chronic sensorineural polyneuropathy
HP:0004442 Sagittal craniosynostosis
HP:0001592 Selective tooth agenesis
HP:0030467 Abnormal pattern electroretinogram
HP:0011521 Deuteranopia
HP:0100363 Aplasia of the phalanges of the 4th toe
HP:0030479 Abnormal amplitude of light-adapted flicker electroretinogram
HP:0009926 Increased lacrimation
HP:0011058 Generalized periodontitis
HP:0003540 Impaired platelet aggregation
HP:0010736 Monostotic fibrous dysplasia
HP:0030559 Best corrected visual acuity 0.7 LogMAR
HP:0009690 Fragmentation of thumb epiphysis
HP:0011418 Abnormal insertion of umbilical cord
HP:0007859 Congenital horizontal nystagmus
HP:0004610 Lumbar spinal canal stenosis
HP:0007754 Macular dystrophy
HP:0006509 Diverticulosis of trachea
HP:0007065 Disorganization of the anterior cerebellar vermis
HP:0004590 Hypoplastic sacrum
HP:0003967 Sclerotic forearm bones
HP:0008956 Proximal lower limb amyotrophy
HP:0100755 Abnormality of salivation
HP:0011683 Restrictive ventricular septal defect
HP:0004438 Hyperostosis frontalis interna
HP:0002689 Absent paranasal sinuses
HP:0003142 Excessive purine production
HP:0010675 Abnormal foot bone ossification
HP:0003759 Hypoplasia of lymphatic vessels
HP:0012306 Abnormal rib ossification
HP:0001812 Hyperconvex fingernails
HP:0200026 Ocular pain
HP:0009623 Proximal placement of thumb
HP:0011397 Abnormality of the dorsal column of the spinal cord
HP:0040220 Abnormal size the dental root
HP:0000065 Labial hypertrophy
HP:0010233 Irregular epiphyses of the phalanges of the hand
HP:0012407 Scissor gait
HP:0010641 Abnormality of the midnasal cavity
HP:0010896 Hypersarcosinemia
HP:0025239 Subhyaloid hemorrhage
HP:0006783 Posterior pharyngeal cleft
HP:0000503 Tortuosity of conjunctival vessels
HP:0007831 Nonprogressive restrictive external ophthalmoplegia
HP:0011702 Abnormal electrophysiology of sinoatrial node origin
HP:0012073 Abnormal urinary acylglycine profile
HP:0000044 Hypogonadotrophic hypogonadism
HP:0000252 Microcephaly
HP:0200114 Metabolic alkalosis
HP:0025311 Anterior chamber cyst
HP:0007024 Pseudobulbar paralysis
HP:0030609 Photoreceptor layer loss on macular OCT
HP:0012816 Right ventricular noncompaction cardiomyopathy
HP:0100395 Short proximal phalanx of the 3rd toe
HP:0008783 Wide proximal femoral metaphysis
HP:0002292 Frontal balding
HP:0040270 Decreased glucose tolerance
HP:0011355 Localized skin lesion
HP:0003075 Hypoproteinemia
HP:0011580 Short chordae tendineae of the mitral valve
HP:0012469 Infantile spasms
HP:0200017 Cerebral white matter agenesis
HP:0100623 Abnormality of corpus cavernosum
HP:0006200 Widened distal phalanges
HP:0025278 Cold-induced sweating
HP:0004749 Atrial flutter
HP:0000588 Optic nerve coloboma
HP:0030471 Abnormal dark-adapted dim flash electroretinogram
HP:0001374 Congenital hip dislocation
HP:0011696 Supraventricular tachycardia with a manifest accessory pathway on the left free wall
HP:0012760 Impaired social reciprocity
HP:0010546 Muscle fibrillation
HP:0006951 Retrocerebellar cyst
HP:0011481 Abnormality of the lacrimal duct
HP:0008593 Prominent antitragus
HP:0004854 Intermittent thrombocytopenia
HP:0010327 Flexion contracture of the 2nd toe
HP:0010604 Cyst of the eyelid
HP:0010427 Partial duplication of the middle phalanx of the 2nd toe
HP:0006187 Fusion of midphalangeal joints
HP:0004358 Abnormality of superoxide metabolism
HP:0010444 Pulmonary insufficiency
HP:0003954 Angulated forearm bones
HP:0030291 Lower-limb metaphyseal irregularity
HP:0012818 Biventricular noncompaction cardiomyopathy
HP:0003701 Proximal muscle weakness
HP:0010049 Short metacarpal
HP:0003057 Tetraamelia
HP:0003453 Antineutrophil antibody positivity
HP:0012709 Abnormal brain choline/creatine ratio by MRS
HP:0000548 Cone/cone-rod dystrophy
HP:0008572 External ear malformation
HP:0005107 Abnormality of the sacrum
HP:0030423 Splenic cyst
HP:0000158 Macroglossia
HP:0002611 Cholestatic liver disease
HP:0010202 Duplication of middle phalanx of toe
HP:0100590 Rectal fistula
HP:0010133 Ivory epiphysis of the proximal phalanx of the hallux
HP:0003051 Enlarged metaphyses
HP:0010645 Aplasia of the distal phalanges of the toes
HP:0004001 Medially deficient radial epiphyses
HP:0002981 Abnormality of the calf
HP:0002472 Small cerebral cortex
HP:0001058 Poor wound healing
HP:0100832 Vitreous floaters
HP:0001438 Abnormality of abdomen morphology
HP:0001840 Metatarsus adductus
HP:0007449 Confetti-like hypopigmented macules
HP:0010996 Abnormality of monocarboxylic acid metabolism
HP:0010760 Absent toe
HP:0004925 Chronic lactic acidosis
HP:0002879 Anisospondyly
HP:0008209 Premature ovarian failure
HP:0005565 Reduced renal corticomedullary differentiation
HP:0004779 Brittle scalp hair
HP:0000539 Abnormality of refraction
HP:0010927 Abnormality of divalent inorganic cation homeostasis
HP:0009706 Synostosis involving the 3rd metacarpal
HP:0010368 Abnormality of the distal phalanx of the 3rd toe
HP:0009983 Partial duplication of the proximal phalanx of the 4th finger
HP:0003932 Sclerotic foci of humeral diaphysis
HP:0012404 Abnormal urine citrate concentration
HP:0010286 Abnormality of the salivary glands
HP:0003653 Cellular metachromasia
HP:0002170 Intracranial hemorrhage
HP:0004236 Irregular carpal bones
HP:0000472 Long neck
HP:0008067 Abnormally lax or hyperextensible skin
HP:0001131 Corneal dystrophy
HP:0012511 Temporal optic disc pallor
HP:0000835 Adrenal hypoplasia
HP:0011017 Abnormality of cell physiology
HP:0005109 Abnormality of the Achilles tendon
HP:0002077 Migraine with aura
HP:0025260 Stiff wrist
HP:0004045 Sloping ulnar metaphysis
HP:0009116 Aplasia/Hypoplasia involving bones of the skull
HP:0010575 Dysplasia of the femoral head
HP:0001954 Episodic fever
HP:0003163 Elevated urinary delta-aminolevulinic acid
HP:0004955 Generalized arterial tortuosity
HP:0011931 Abnormality of the cerebellar peduncle
HP:0030566 Best corrected visual acuity 1.3 LogMAR
HP:0010206 Curved proximal toe phalanx
HP:0030052 Inguinal freckling
HP:0009673 Stippling of the epiphysis of the proximal phalanx of the thumb
HP:0012026 Hyperornithinemia
HP:0000419 Abnormality of the nasal septum
HP:0010281 Cleft lower lip
HP:0012847 Epilepsia partialis continua
HP:0011430 Hypoplasia of fetal nasal bone
HP:0000980 Pallor
HP:0011091 Gemination
HP:0005794 Arterial disease of legs
HP:0005327 Loss of facial expression
HP:0002599 Head titubation
HP:0008108 Advanced tarsal ossification
HP:0030664 Beevor's sign
HP:0030865 Large elbow
HP:0009267 Ivory epiphysis of the proximal phalanx of the 4th finger
HP:0002766 Relatively short spine
HP:0009818 Amelia involving the lower limbs
HP:0003955 Bone-in-a-bone appearance of forearm
HP:0002133 Status epilepticus
HP:0007018 Attention deficit hyperactivity disorder
HP:0004339 Abnormality of sulfur amino acid metabolism
HP:0010481 Urethral valve
HP:0045059 Hyperkeratotic papule
HP:0001769 Broad foot
HP:0000652 Lower eyelid coloboma
HP:0001281 Tetany
HP:0003533 Delayed oxidation of acetaldehyde
HP:0007924 Slow decrease in visual acuity
HP:0009373 Type C brachydactyly
HP:0030176 Asymmetric peripheral demyelination
HP:0003880 Sclerotic foci of the humerus
HP:0010058 Aplasia/Hypoplasia of the phalanges of the hallux
HP:0002119 Ventriculomegaly
HP:0001915 Aplastic anemia
HP:0005914 Aplasia/Hypoplasia involving the metacarpal bones
HP:0030187 Titubation
HP:0011803 Bifid nose
HP:3000040 Abnormality of ethmoid sinus
HP:0005294 Arterial dissection
HP:0009760 Antecubital pterygium
HP:0009817 Aplasia involving bones of the lower limbs
HP:0100046 Cone-shaped epiphyses of the 2nd toe
HP:0030682 Left ventricular noncompaction
HP:0006646 Costal cartilage calcification
HP:0009341 Ivory epiphysis of the distal phalanx of the 3rd finger
HP:0040214 Abnormal insulin level
HP:0010194 Aplasia/Hypoplasia of the middle phalanges of the toes
HP:0040046 Abnormality of the left hemidiaphragm
HP:0012598 Abnormal urine potassium concentration
HP:0012210 Abnormal renal morphology
HP:0002526 Deficit in nonword repetition
HP:0010951 Abnormality of the third ventricle
HP:0007314 White matter neuronal heterotopia
HP:0007361 Abnormality of the pons
HP:3000044 Abnormality of frontal process of maxilla
HP:0025130 Decreased small intestinal mucosa lactase activity
HP:0012515 Hip flexor weakness
HP:0009413 Enlarged epiphyses of the 3rd finger
HP:0000766 Abnormality of the sternum
HP:0100711 Abnormality of the thoracic spine
HP:0009433 Osteolytic defects of the middle phalanx of the 3rd finger
HP:0012128 Basal ganglia necrosis
HP:0012862 Abnormal germ cell morphology
HP:0010807 Open bite
HP:0002673 Coxa valga
HP:0025324 Arterial occlusion
HP:0100823 Genital hernia
HP:0011090 Fused teeth
HP:0011446 Abnormality of higher mental function
HP:0025038 Intratesticular abscess
HP:0006714 Aplasia/Hypoplasia of the sternum
HP:0040007 Absent pigmentation of chest
HP:0000586 Shallow orbits
HP:0003987 Fractured ulna
HP:0003645 Prolonged partial thromboplastin time
HP:0011637 Anomalous origin of coronary artery from the pulmonary artery
HP:0007708 Absent inner eyelashes
HP:0004524 Temporal hypotrichosis
HP:0040170 Abnormality of hair growth
HP:0012030 Increased urinary cortisol level