| 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 |
| HP:0100016 |
Abnormality of mesentery morphology |
| HP:0010530 |
Palatal myoclonus |
| HP:0030174 |
Increased peripheral myelin thickness |
| HP:0030836 |
Wrist pain |
| HP:0006837 |
Congenital Horner syndrome |
| HP:0010734 |
Fibrous dysplasia of the bones |
| HP:0006011 |
Cuboidal metacarpal |
| HP:0100562 |
Diplomyelia |
| HP:0009836 |
Broad distal phalanx of finger |
| HP:0100034 |
Motor tics |
| HP:0030259 |
Hypopigmented genitalia |
| HP:0002267 |
Exaggerated startle response |
| HP:0008477 |
Poorly ossified cervical vertebrae |
| HP:0008482 |
Asymmetry of spinal facet joints |
| HP:0007530 |
Punctate palmoplantar hyperkeratosis |
| HP:0200128 |
Biventricular hypertrophy |
| HP:0010148 |
Triangular epiphysis of the distal phalanx of the hallux |
| HP:0000301 |
Abnormality of facial musculature |
| HP:0004439 |
Craniofacial dysostosis |
| HP:0030712 |
Uterine synechiae |
| HP:0003343 |
Glutathione synthetase deficiency |
| HP:0100596 |
Absent nares |
| HP:0004758 |
Effort-induced polymorphic ventricular tachycardias |
| HP:0100070 |
Fragmentation of the epiphyses of the 4th toe |
| HP:0040188 |
Osteochondrosis |
| HP:0009060 |
Scapular muscle atrophy |
| HP:0002715 |
Abnormality of the immune system |
| HP:0004609 |
Patchy distortion of vertebrae |
| HP:0002943 |
Thoracic scoliosis |
| HP:0200029 |
Vasculitis in the skin |
| HP:0011738 |
Corticotropin-releasing hormone receptor defect |
| HP:0012870 |
Vanishing testis |
| HP:0025319 |
Rubeosis iridis |
| HP:0000320 |
Bird-like facies |
| HP:0011299 |
Partial absence of finger |
| HP:0008803 |
Narrow sacroiliac notch |
| HP:0011520 |
Deuteranomaly |
| HP:0010223 |
Pseudoepiphysis of the 3rd metacarpal |
| HP:0011370 |
Recurrent cutaneous fungal infections |
| HP:0002318 |
Cervical myelopathy |
| HP:0011717 |
AV nodal reentry tachycardia |
| HP:0007074 |
Thick corpus callosum |
| HP:0010706 |
1-3 finger syndactyly |
| HP:0009955 |
Partial duplication of the proximal phalanx of the 2nd finger |
| HP:0200003 |
Splayed epiphyses |
| HP:0009236 |
Rhomboid or triangular shaped 5th finger proximal phalanx |
| HP:0030311 |
Lower extremity joint dislocation |
| HP:0009126 |
Increased adipose tissue |
| HP:0002361 |
Psychomotor deterioration |
| HP:0003452 |
Increased serum iron |
| HP:0010205 |
Bullet-shaped proximal toe phalanx |
| HP:0009522 |
Stippling of the epiphysis of the middle phalanx of the 2nd finger |
| HP:0011771 |
Autoimmune hypoparathyroidism |
| HP:0007820 |
Atretic lacrimal punctum |
| HP:0001324 |
Muscle weakness |
| HP:0009107 |
Abnormal ossification involving the femoral head and neck |
| HP:0001741 |
Phimosis |
| HP:0003646 |
Bicarbonaturia |
| HP:0100015 |
Stahl ear |
| HP:0001539 |
Omphalocele |
| HP:0045063 |
Increased PIVKA-II |
| HP:0002536 |
Abnormal cortical gyration |
| HP:0005535 |
Exercise-induced hemolysis |
| HP:0010031 |
Patchy sclerosis of the 1st metacarpal |
| HP:0010320 |
Abnormality of the 3rd toe |
| HP:0009319 |
Joint contracture of the 3rd finger |
| HP:0011201 |
EEG with changes in voltage |
| HP:0012144 |
Abnormality of cells of the monocyte/macrophage lineage |
| HP:0005108 |
Abnormality of the intervertebral disk |
| HP:0004401 |
Meconium ileus |
| HP:0007343 |
Abnormal morphology of the limbic system |
| HP:0011840 |
Abnormality of T cell physiology |
| HP:0002663 |
Delayed epiphyseal ossification |
| HP:0030911 |
Bifid clitoris |
| HP:0002910 |
Elevated hepatic transaminases |
| HP:0030016 |
Dyspareunia |
| HP:0007229 |
Intracerebral periventricular calcifications |
| HP:0005622 |
Broad long bones |
| HP:0012735 |
Cough |
| HP:0005003 |
Aplasia/Hypoplasia of the capital femoral epiphysis |
| HP:0011067 |
Mesiodens |
| HP:0030536 |
Unaided visual acuity 0.1 LogMAR |
| HP:0010383 |
Aplasia/Hypoplasia of the phalanges of the 5th toe |
| HP:0012497 |
Reduced maximal expiratory pressure |
| HP:0011228 |
Horizontal eyebrow |
| HP:0010178 |
Patchy sclerosis of toe phalanx |
| HP:0003200 |
Ragged-red muscle fibers |
| HP:0012676 |
Copper accumulation in brain |
| HP:0004789 |
Lactose intolerance |
| HP:0000774 |
Narrow chest |
| HP:0012145 |
Abnormality of multiple cell lineages in the bone marrow |
| HP:0008738 |
Partially duplicated kidney |
| HP:0030375 |
Increased memory B cell count |
| HP:0007109 |
Periventricular cysts |
| HP:0002980 |
Femoral bowing |
| HP:0011561 |
Overriding atrioventricular valve |
| HP:0030782 |
Abnormal serum interleukin level |
| HP:0011170 |
Myoclonic atonic seizures |
| HP:0001291 |
Abnormality of the cranial nerves |
| HP:0030800 |
Abnormal visual accommodation |
| HP:0007425 |
Hyperextensible skin of face |
| HP:0000267 |
Cranial asymmetry |
| HP:0002557 |
Hypoplastic nipples |
| HP:0009470 |
Contracture of the metacarpophalangeal joint of the 3rd finger |
| HP:0040238 |
Impaired neutrophil chemotaxis |
| HP:0005356 |
Decreased serum complement factor I |
| HP:0007233 |
Clusters of axonal regeneration |
| HP:0030635 |
Retinal dystrophy with early macular involvement |
| HP:0007730 |
Iris hypopigmentation |
| HP:0004478 |
Ethmoidal encephalocele |
| HP:0030403 |
Spontaneous platelet aggregation |
| HP:0010394 |
Abnormality of the proximal phalanx of the 5th toe |
| HP:0007418 |
Alopecia totalis |
| HP:0011069 |
Increased number of teeth |
| HP:0010022 |
Pseudoepiphysis of the 1st metacarpal |
| HP:0012362 |
Abnormal sialylation of O-linked protein glycosylation |
| HP:0100387 |
Aplasia of the middle phalanges of the toes |
| HP:0009309 |
Triangular shaped middle phalanx of the 4th finger |
| HP:0010701 |
Abnormal immunoglobulin level |
| HP:0100915 |
Sclerosis of distal finger phalanx |
| HP:0009348 |
Cone-shaped epiphysis of the proximal phalanx of the 3rd finger |
| HP:0011590 |
Double aortic arch |
| HP:0003292 |
Decreased serum leptin |
| HP:0100029 |
Lingual thyroid |
| HP:0002679 |
Abnormality of the sella turcica |
| HP:0010258 |
Bracket epiphyses of the middle phalanges of the hand |
| HP:0011075 |
Green teeth |
| HP:0007574 |
Generalized bronze hyperpigmentation |
| HP:0011947 |
Respiratory tract infection |
| HP:0001830 |
Postaxial foot polydactyly |
| HP:0025148 |
Dark choroid |
| HP:0012467 |
Acute respiratory acidosis |
| HP:0100108 |
Small epiphysis of the distal phalanx of the 2nd toe |
| HP:0009105 |
Abnormal ossification of the pubic bone |
| HP:0040019 |
Finger clinodactyly |
| HP:0007526 |
Hypopigmented skin patches on arms |
| HP:0007561 |
Telangiectases in sun-exposed and nonexposed skin |
| HP:0007359 |
Focal seizures |
| HP:0008072 |
Maternal virilization in pregnancy |
| HP:0006557 |
Polycystic liver disease |
| HP:0001226 |
Acral ulceration and osteomyelitis leading to autoamputation of digits |
| HP:0100167 |
Triangular epiphysis of the proximal phalanx of the 3rd toe |
| HP:0025076 |
Abnormal QRS voltage |
| HP:0040016 |
Prominent coccyx |
| HP:0100106 |
Ivory epiphysis of the distal phalanx of the 2nd toe |
| HP:0030156 |
Bence Jones Proteinuria |
| HP:0012593 |
Nephrotic range proteinuria |
| HP:0200094 |
Frontal open bite |
| HP:0100064 |
Stippling of the epiphyses of the 3rd toe |
| HP:0030018 |
Decreased female libido |
| HP:0001642 |
Pulmonic stenosis |
| HP:0005824 |
Clinodactyly of the 2nd toe |
| HP:0006375 |
Dumbbell-shaped femur |
| HP:0000315 |
Abnormality of the orbital region |
| HP:0010763 |
Low insertion of columella |
| HP:0012387 |
Bronchitis |
| HP:3000057 |
Abnormality of inferior oblique extraocular muscle |
| HP:0009752 |
Cleft in skull base |
| HP:0040119 |
Unilateral conductive hearing impairment |
| HP:0040059 |
Calcification of ribs |
| HP:0010850 |
EEG with spike-wave complexes |
| HP:0001847 |
Long hallux |
| HP:0030213 |
Emotional blunting |
| HP:0010879 |
Postnatal cystic hygroma |
| HP:0005756 |
Neonatal epiphyseal stippling |
| HP:0000698 |
Conical tooth |
| HP:0005147 |
Bidirectional ventricular ectopy |
| HP:0000648 |
Optic atrophy |
| HP:0009045 |
Exercise-induced rhabdomyolysis |
| HP:0012276 |
Digital flexor tenosynovitis |
| HP:0009759 |
Neck pterygia |
| HP:0007822 |
Central retinal exudate |
| HP:0030636 |
Occult macular dystrophy |
| HP:0002140 |
Ischemic stroke |
| HP:0003209 |
Decreased pyruvate carboxylase activity |
| HP:0010081 |
Patchy sclerosis of the distal phalanx of the hallux |
| HP:0008730 |
Female external genitalia in individual with 46,XY karyotype |
| HP:0011032 |
Abnormality of fluid regulation |
| HP:0008469 |
Cervical vertebral dysplasia |
| HP:0030889 |
Congenital shortened small intestine |
| HP:0100376 |
Aplasia/hypoplasia of the proximal phalanx of the 4th toe |
| HP:0000080 |
Abnormality of reproductive system physiology |
| HP:0030139 |
Excessive bleeding after a venipuncture |
| HP:0011417 |
Long umbilical cord |
| HP:0100511 |
Abnormality of vitamin D metabolism |
| HP:0012259 |
Absent inner and outer dynein arms |
| HP:0010451 |
Aplasia/Hypoplasia of the spleen |
| HP:0011246 |
Underdeveloped superior crus of antihelix |
| HP:0012741 |
Unilateral cryptorchidism |
| HP:0005090 |
Lateral femoral bowing |
| HP:0030220 |
Socially inappropriate behavior |
| HP:0008801 |
Hypoplasia of the lesser trochanter |
| HP:0011854 |
Hemoperitoneum |
| HP:0008619 |
Bilateral sensorineural hearing impairment |
| HP:0100212 |
Triangular epiphysis of the distal phalanx of the 5th toe |
| HP:0011362 |
Abnormal hair quantity |
| HP:0011159 |
Epigastric auras |
| HP:0010647 |
Abnormal elasticity of skin |
| HP:0030727 |
Intracranial neurenteric cyst |
| HP:0009975 |
Duplication of the distal phalanx of the 4th finger |
| HP:0012548 |
Fatty replacement of skeletal muscle |
| HP:0100143 |
Small epiphysis of the distal phalanx of the 3rd toe |
| HP:0006067 |
Multiple carpal ossification centers |
| HP:0005957 |
Breathing dysregulation |
| HP:0030391 |
Spoken Word Recognition Deficit |
| HP:0000930 |
Elevated imprint of the transverse sinuses |
| HP:0009285 |
Curved phalanges of the 4th finger |
| HP:0007942 |
Internal ophthalmoplegia |
| HP:0006247 |
Enlarged interphalangeal joints |
| HP:0009219 |
Irregular epiphysis of the middle phalanx of the 4th finger |
| HP:0001549 |
Abnormality of the ileum |
| HP:0005152 |
Oncocytic cardiomyopathy |
| HP:0007207 |
Photosensitive tonic-clonic seizures |
| HP:0007937 |
Reticular pigmentary degeneration |
| HP:0004960 |
Absent pulmonary artery |
| HP:0009894 |
Thickened ears |
| HP:0012585 |
Renal atrophy |
| HP:0008476 |
Irregular sclerotic endplates |
| HP:0100928 |
Sclerosis of 4th toe phalanx |
| HP:0000122 |
Unilateral renal agenesis |
| HP:0008669 |
Abnormal spermatogenesis |
| HP:0012364 |
Decreased urinary potassium |
| HP:0009438 |
Absent middle phalanx of 3rd finger |
| HP:0002194 |
Delayed gross motor development |
| HP:0010237 |
Epiphyseal stippling of finger phalanges |
| HP:0011517 |
Cone monochromacy |
| HP:0012565 |
Premature epimetaphyseal fusion in fibula |
| HP:0001128 |
Trichiasis |
| HP:0011950 |
Bronchiolitis |
| HP:0030709 |
Myelocystocele |
| HP:0009190 |
Irregular epiphyses of the metacarpals |
| HP:0005419 |
Decreased T cell activation |
| HP:0004919 |
Galactose intolerance |
| HP:0005054 |
Metaphyseal spurs |
| HP:0009454 |
Patchy sclerosis of the proximal phalanx of the 3rd finger |
| HP:0012821 |
Unilateral vocal cord paresis |
| HP:0011110 |
Tonsillitis |
| HP:0003137 |
Prolinuria |
| HP:0001138 |
Optic neuropathy |
| HP:0010779 |
Large pelvis bone |
| HP:0003762 |
Uterus didelphys |
| HP:0012476 |
Specific pneumococcal antibody deficiency |
| HP:0011155 |
Focal autonomic seizures with altered responsiveness |
| HP:0002868 |
Narrow iliac wings |
| HP:0002605 |
Hepatic necrosis |
| HP:0010025 |
Triangular epiphysis of the 1st metacarpal |
| HP:0002657 |
Spondylometaphyseal dysplasia |
| HP:0011080 |
Abnormality of premolar morphology |
| HP:0005165 |
Shortened PR interval |
| HP:0045051 |
Decreased DLCO |
| HP:0040226 |
Decreased level of heparin co-factor II |
| HP:0040010 |
Small posterior fossa |
| HP:0045003 |
Abnormal ossification of the scaphoid |
| HP:0000081 |
Duplicated collecting system |
| HP:0025160 |
Abnormal temper tantrums |
| HP:0003837 |
Soft-tissue ossification around the shoulders |
| HP:0100738 |
Abnormal eating behavior |
| HP:0012851 |
Colonic stenosis |
| HP:0011584 |
Thoracocervical ectopia cordis |
| HP:0010084 |
Duplication of the distal phalanx of the hallux |
| HP:0001073 |
Cigarette-paper scars |
| HP:0005942 |
Desquamative interstitial pneumonitis |
| HP:0100234 |
Triangular epiphysis of the proximal phalanx of the 5th toe |
| HP:0005817 |
Postaxial polysyndactyly of foot |
| HP:0040272 |
Hyperintensity of MRI T2 signal of the spinal cord |
| HP:0005187 |
Progressive joint destruction |
| HP:3000073 |
Abnormality of levator veli palatini muscle |
| HP:0100112 |
Bracket epiphysis of the middle phalanx of the 2nd toe |
| HP:0100865 |
Broad ischia |
| HP:0012392 |
Jaw hyporeflexia |
| HP:0009782 |
Aplasia/Hypoplasia of the biceps |
| HP:0011204 |
EEG with continuous slow activity |
| HP:0007545 |
Congenital palmoplantar keratosis |
| HP:0009985 |
Duplication of phalanx of 5th finger |
| HP:0100732 |
Pancreatic fibrosis |
| HP:0000935 |
Thickened cortex of long bones |
| HP:0001507 |
Growth abnormality |
| HP:0009295 |
Short middle phalanx of the 4th finger |
| HP:0010515 |
Aplasia/Hypoplasia of the thymus |
| HP:0002580 |
Volvulus |
| HP:0009487 |
Ulnar deviation of the hand |
| HP:0003575 |
Increased intracellular sodium |
| HP:0010817 |
Linear nevus sebaceous |
| HP:0005790 |
Short mandibular condyles |
| HP:0002926 |
Abnormality of thyroid physiology |
| HP:0004222 |
Cone-shaped epiphysis of the distal phalanx of the 5th finger |
| HP:0005780 |
Absent fourth finger distal interphalangeal crease |
| HP:0009059 |
Congenital generalized lipodystrophy |
| HP:0100262 |
Synostosis involving digits |
| HP:0010122 |
Stippling of the epiphyses of the hallux |
| HP:3000074 |
Abnormality of lingual artery |
| HP:0007705 |
Corneal degeneration |
| HP:0030149 |
Cardiogenic shock |
| HP:0001480 |
Freckling |
| HP:0008071 |
Maternal hypertension |
| HP:0030454 |
Abnormal electrooculogram |
| HP:0001271 |
Polyneuropathy |
| HP:0006502 |
Aplasia/Hypoplasia involving the carpal bones |
| HP:0005458 |
Premature closure of fontanelles |
| HP:0001951 |
Episodic ammonia intoxication |
| HP:0005390 |
Recurrent opportunistic infections |
| HP:0010034 |
Short 1st metacarpal |
| HP:0002764 |
Stippled chondral calcification |
| HP:0002815 |
Abnormality of the knee |
| HP:0008773 |
Aplasia/Hypoplasia of the middle ear |
| HP:0005520 |
Chronic disseminated intravascular coagulation |
| HP:0008360 |
Neonatal hypoproteinemia |
| HP:0004226 |
Curved distal phalanx of the 5th finger |
| HP:0100838 |
Recurrent cutaneous abscess formation |
| HP:0003729 |
Enteroviral dermatomyositis syndrome |
| HP:0100441 |
Bullet-shaped distal phalanx of the 4th toe |
| HP:0001400 |
Hepatic abscesses due to immunodeficiency |
| HP:0005537 |
Decreased mean platelet volume |
| HP:0009318 |
Aplasia/Hypoplasia of the 3rd finger |
| HP:0009958 |
Polydactyly affecting the 3rd finger |
| HP:0011177 |
EEG with 4-5/second background activity |
| HP:0001886 |
Foot osteomyelitis |
| HP:0002810 |
Dumbbell-shaped metaphyses |
| HP:0000642 |
Red-green dyschromatopsia |
| HP:0025018 |
Abnormal capillary physiology |
| HP:0007256 |
Abnormal pyramidal signs |
| HP:0030560 |
Best corrected visual acuity 0.6 LogMAR |
| HP:0011606 |
Transposition of the great arteries with intact ventricular septum |
| HP:0007958 |
Optic atrophy from cranial nerve compression |
| HP:0008197 |
Absence of pubertal development |
| HP:0100205 |
Enlarged epiphysis of the distal phalanx of the 5th toe |
| HP:0007556 |
Plantar hyperkeratosis |
| HP:0000014 |
Abnormality of the bladder |
| HP:0008399 |
Circumungual hyperkeratosis |
| HP:0009526 |
Cone-shaped epiphysis of the proximal phalanx of the 2nd finger |
| HP:0009031 |
Amyotrophy of ankle musculature |
| HP:0025080 |
Orthokeratotic hyperkeratosis |
| HP:0002074 |
Increased neuronal autofluorescent lipopigment |
| HP:0010747 |
Medial flaring of the eyebrow |
| HP:0004348 |
Abnormality of bone mineral density |
| HP:0010544 |
Vertical nystagmus |
| HP:3000042 |
Abnormality of jugular vein |
| HP:0004060 |
Trident hand |
| HP:0030504 |
Grouped congenital hypertrophy of retinal pigment epithelium |
| HP:0005532 |
Macrocytic dyserythropoietic anemia |
| HP:0010432 |
Absent distal phalanx of the 2nd toe |
| HP:0001679 |
Abnormality of the aorta |
| HP:0003297 |
Hyperlysinuria |
| HP:0004804 |
Congenital hemolytic anemia |
| HP:0100805 |
Precocious menopause |
| HP:0011811 |
Impaired touch localization |
| HP:0040225 |
Decrease in high molecular weight von Willebrand factor Multimers |
| HP:0000417 |
Slender nose |
| HP:0010974 |
Abnormality of myeloid leukocytes |
| HP:0002708 |
Prominent median palatal raphe |
| HP:0001945 |
Fever |
| HP:0010744 |
Absent metatarsal bone |
| HP:0040138 |
Mucinous histiocytosis |
| HP:0025043 |
Enlarged mesenteric lymph node |
| HP:0009962 |
Duplication of the distal phalanx of the 3rd finger |
| HP:0004681 |
Deep longitudinal plantar crease |
| HP:0004440 |
Coronal craniosynostosis |
| HP:0002778 |
Abnormality of the trachea |
| HP:0100039 |
Thickened cortex of bones |
| HP:0030846 |
Abnormality of venous physiology |
| HP:0003345 |
Elevated urinary norepinephrine |
| HP:0001004 |
Lymphedema |
| HP:0009536 |
Short 2nd finger |
| HP:0000341 |
Narrow forehead |
| HP:0009773 |
Symphalangism affecting the phalanges of the hand |
| HP:0005659 |
Thoracic kyphoscoliosis |
| HP:0001674 |
Complete atrioventricular canal defect |
| HP:0000216 |
Broad secondary alveolar ridge |
| HP:0010595 |
Abnormality of the distal fibular epiphysis |
| HP:0030612 |
Abnormal retinal morphology on macular OCT |
| HP:0009167 |
Irregular epiphysis of the distal phalanx of the 5th finger |
| HP:0009258 |
Small epiphysis of the distal phalanx of the 4th finger |
| HP:0100270 |
Abnormality of dorsoventral patterning of the limbs |
| HP:0009776 |
Adactyly |
| HP:0006234 |
Osteolysis involving tarsal bones |
| HP:0011171 |
Simple febrile seizures |
| HP:0007733 |
Laterally curved eyebrow |
| HP:0001341 |
Olfactory lobe agenesis |
| HP:0009910 |
Aplasia of the middle ear ossicles |
| HP:0003878 |
Periosteal new bone of humerus |
| HP:0001445 |
Abnormality of the hip-girdle musculature |
| HP:0011015 |
Abnormality of blood glucose concentration |
| HP:0009128 |
Aplasia/Hypoplasia involving the musculature of the extremities |
| HP:0008065 |
Aplasia/Hypoplasia of the skin |
| HP:0100672 |
Vaginal hernia |
| HP:0006643 |
Fused sternal ossification centers |
| HP:0011003 |
Severe Myopia |
| HP:0100335 |
Non-midline cleft lip |
| HP:0025161 |
Frequent temper tantrums |
| HP:0002056 |
Abnormality of the glabella |
| HP:0004288 |
Pseudoepiphyses of hand bones |
| HP:0012354 |
Increased fucosylation of N-linked protein glycosylation |
| HP:0004344 |
Abnormality of cerebrosidase metabolism |
| HP:0004397 |
Ectopic anus |
| HP:0100491 |
Abnormality of lower limb joint |
| HP:0002289 |
Alopecia universalis |
| HP:0010113 |
Absent hallux epiphysis |
| HP:0002822 |
Hyperplasia of the femoral trochanters |
| HP:0100863 |
Aplasia of the femoral neck |
| HP:0008711 |
Benign prostatic hyperplasia |
| HP:0040122 |
Impairment of the the acoustic reflex |
| HP:0009192 |
Aplasia/Hypoplasia of the proximal phalanx of the 5th finger |
| HP:0011304 |
Broad thumb |
| HP:0011753 |
Posterior pituitary dysgenesis |
| HP:0000933 |
Posterior fossa cyst at the fourth ventricle |
| HP:0004264 |
Narrow carpal joint spaces |
| HP:0007293 |
Anterior sacral meningocele |
| HP:0025136 |
Increased serum estriol |
| HP:0005484 |
Postnatal microcephaly |
| HP:0010813 |
Abnormal number of hair whorls |
| HP:0006505 |
Abnormality of limb epiphysis morphology |
| HP:0007946 |
Unilateral narrow palpebral fissure |
| HP:0005042 |
Irregular, rachitic-like metaphyses |
| HP:0012744 |
Femoral aplasia |
| HP:0002642 |
Arteriovenous fistulas of celiac and mesenteric vessels |
| HP:0008182 |
Adrenocortical hypoplasia |
| HP:0006541 |
Chronic obstructive airway disease from birth |
| HP:0100434 |
Bullet-shaped middle phalanx of the 3rd toe |
| HP:0030216 |
Inertia |
| HP:0012048 |
Oromandibular dystonia |
| HP:0006279 |
Beta-cell dysfunction |
| HP:0007069 |
Profound static encephalopathy |
| HP:0009403 |
Triangular epiphyses of the 4th finger |
| HP:0004719 |
Hyperechogenic kidneys |
| HP:0003614 |
Trimethylaminuria |
| HP:3000022 |
Abnormality of cartilage of external ear |
| HP:0009973 |
Complete duplication of the phalanges of the 4th finger |
| HP:0040093 |
Asymmetry of the position of the ears |
| HP:0007392 |
Excessive wrinkled skin |
| HP:0010350 |
Curved 2nd toe phalanx |
| HP:0010767 |
Sacrococcygeal pilonidal abnormality |
| HP:0030113 |
Abnormal muscle fiber dysferlin |
| HP:0011967 |
Hypocupremia |
| HP:0009502 |
Absent epiphysis of the distal phalanx of the 2nd finger |
| HP:0030656 |
Umbilical vein varix |
| HP:3000030 |
Abnormality of bony orbit of skull |
| HP:0011632 |
Partial right sided absence of pericardium |
| HP:0001050 |
Plethora |
| HP:0008063 |
Aplasia/Hypoplasia of the lens |
| HP:0000234 |
Abnormality of the head |
| HP:0011249 |
Absent antitragus |
| HP:0012466 |
Chronic respiratory acidosis |
| HP:0011453 |
Abnormality of the incus |
| HP:0000777 |
Abnormality of the thymus |
| HP:0100785 |
Insomnia |
| HP:0005307 |
Postural hypotension with compensatory tachycardia |
| HP:0011095 |
Overjet |
| HP:0001574 |
Abnormality of the integument |
| HP:0001868 |
Autoamputation of foot |
| HP:0000911 |
Flat glenoid fossa |
| HP:0007448 |
Hyperkeratosis over edematous areas |
| HP:0000575 |
Scotoma |
| HP:0005316 |
Peripheral pulmonary vessel aplasia |
| HP:0025134 |
Increased serum estradiol |
| HP:0009612 |
Duplication of the distal phalanx of the thumb |
| HP:0100798 |
Fingernail dysplasia |
| HP:0002304 |
Akinesia |
| HP:0011986 |
Ectopic ossification |
| HP:0030867 |
Vertical orbital dystopia |
| HP:0001695 |
Cardiac arrest |
| HP:0005828 |
Transient pulmonary infiltrates |
| HP:0030181 |
Gordon reflex |
| HP:0100758 |
Gangrene |
| HP:0001284 |
Areflexia |
| HP:0100611 |
Multiple glomerular cysts |
| HP:0012649 |
Increased inflammatory response |
| HP:0012562 |
Premature epimetaphyseal fusion in hand |
| HP:0010521 |
Gait apraxia |
| HP:0012754 |
CNS hypermyelination |
| HP:3000079 |
Abnormality of mandibular symphysis |
| HP:0100402 |
Duplication of the middle phalanx of the 4th toe |
| HP:0000748 |
Inappropriate laughter |
| HP:0009381 |
Short finger |
| HP:0010749 |
Blepharochalasis |
| HP:0030834 |
Shoulder pain |
| HP:0011207 |
EEG with generalized slow activity grade 2 |
| HP:0100647 |
Graves disease |
| HP:0001376 |
Limitation of joint mobility |
| HP:0006906 |
Congenital intracerebral calcification |
| HP:0007932 |
Bilateral congenital mydriasis |
| HP:0009356 |
Triangular epiphysis of the proximal phalanx of the 3rd finger |
| HP:0009197 |
Bracket epiphysis of the proximal phalanx of the 5th finger |
| HP:0007412 |
Macular hyperpigmented dermopathy |
| HP:0030489 |
Abnormal paracentral response of multifocal electroretinogram |
| HP:0012133 |
Erythroid hypoplasia |
| HP:0010966 |
Abnormality of fatty-acid anion metabolism |
| HP:0007873 |
Abnormally prominent line of Schwalbe |
| HP:0006224 |
Tapering pointed ends of distal finger phalanges |
| HP:0000059 |
Hypoplastic labia majora |
| HP:0200153 |
Agenesis of lateral incisor |
| HP:0010280 |
Stomatitis |
| HP:0003172 |
Abnormality of the pubic bone |
| HP:0011288 |
EEG with parietal sharp slow waves |
| HP:3000021 |
Abnormality of buccal fat pad |
| HP:0006555 |
Diffuse hepatic steatosis |
| HP:0010274 |
Ivory epiphyses of the proximal phalanges of the hand |
| HP:0010632 |
Total anosmia |
| HP:0030642 |
Fundus albipunctatus |
| HP:0011622 |
Inlet ventricular septal defect |
| HP:0030665 |
Rubral tremor |
| HP:0008708 |
Partial development of the penile shaft |
| HP:0025323 |
Abnormal arterial physiology |
| HP:0003362 |
Increased circulating very-low-density lipoprotein cholesterol |
| HP:0100352 |
Contracture of the distal interphalangeal joint of the 2nd toe |
| HP:0010219 |
Structural foot deformity |
| HP:0005873 |
Polysyndactyly of hallux |
| HP:0011381 |
Aplasia of the semicircular canal |
| HP:0025348 |
Abnormality of the corneal limbus |
| HP:0003219 |
Ethylmalonic aciduria |
| HP:0012003 |
Affective auras |
| HP:0007374 |
Atrophy/Degeneration involving the caudate nucleus |
| HP:0010669 |
Hypoplasia of the zygomatic bone |
| HP:0010075 |
Duplication of the 1st metatarsal |
| HP:0003467 |
Atlantoaxial instability |
| HP:0010357 |
Abnormality of the middle phalanx of the 2nd toe |
| HP:0012580 |
Calcium phosphate nephrolithiasis |
| HP:0005767 |
1-2 toe complete cutaneous syndactyly |
| HP:0002263 |
Exaggerated cupid's bow |
| HP:0009485 |
Radial deviation of the hand or of fingers of the hand |
| HP:0012625 |
Stage 3 chronic kidney disease |
| HP:0007840 |
Long upper eyelashes |
| HP:0011268 |
Absent tragus |
| HP:0008320 |
Impaired collagen-induced platelet aggregation |
| HP:0011708 |
Mobitz II atrioventricular block |
| HP:0030627 |
Foveal hyporeflective spaces on macular OCT |
| HP:0010516 |
Thymus hyperplasia |
| HP:0012400 |
Abnormal aldolase level |
| HP:0004334 |
Dermal atrophy |
| HP:0001264 |
Spastic diplegia |
| HP:0003871 |
Deformed humerus |
| HP:0011780 |
Thyroid hemiagenesis |
| HP:0009460 |
Aplasia of the 3rd finger |
| HP:0025137 |
Decreased serum estriol |
| HP:0009429 |
Aplasia of the distal phalanx of the 3rd finger |
| HP:0005313 |
Arterial fibromuscular dysplasia |
| HP:0009432 |
Curved middle phalanx of the 3rd finger |
| HP:0008683 |
Enlarged labia minora |
| HP:0004568 |
Beaking of vertebral bodies |
| HP:0030212 |
Collectionism |
| HP:0002932 |
Aldehyde oxidase deficiency |
| HP:0012506 |
Small pituitary gland |
| HP:0012803 |
Anisometropia |
| HP:0006619 |
Anterior rib punctate calcifications |
| HP:0011364 |
White hair |
| HP:0040091 |
Asymmetry of the size of ears |
| HP:0009659 |
Partial absence of thumb |
| HP:0012475 |
Specific antibody deficiency |
| HP:0010812 |
Short uvula |
| HP:0002613 |
Biliary cirrhosis |
| HP:0012237 |
Urocanic aciduria |
| HP:0030365 |
Vaginal birth after Caesarian |
| HP:0010578 |
Bracket epiphyses |
| HP:0006127 |
Long proximal phalanx of finger |
| HP:0009940 |
Asymmetry of the mandible |
| HP:0002219 |
Facial hypertrichosis |
| HP:0004947 |
Arteriovenous fistula |
| HP:0002043 |
Esophageal stricture |
| HP:0006641 |
Prominent floating ribs |
| HP:0001508 |
Failure to thrive |
| HP:0100803 |
Abnormality of the periungual region |
| HP:0006530 |
Interstitial pulmonary abnormality |
| HP:0003805 |
Rimmed vacuoles |
| HP:0011087 |
Talon cusp |
| HP:0007843 |
Attenuation of retinal blood vessels |
| HP:0000430 |
Underdeveloped nasal alae |
| HP:0006934 |
Congenital nystagmus |
| HP:0002245 |
Meckel diverticulum |
| HP:0012170 |
Nail-biting |
| HP:0012550 |
Colonic varices |
| HP:0001714 |
Ventricular hypertrophy |
| HP:0008608 |
Hypertrophic auricular cartilage |
| HP:0009058 |
Increased muscle lipid content |
| HP:0003141 |
Hyperbetalipoproteinemia |
| HP:0100885 |
Lateral venous anomaly |
| HP:0030377 |
Increased immature B cell count |
| HP:0006157 |
Prominent palmar flexion creases |
| HP:0005178 |
Complete heart block with narrow QRS complexes |
| HP:0007480 |
Decreased sweating due to autonomic dysfunction |
| HP:0006346 |
Screwdriver-shaped incisors |
| HP:0010878 |
Fetal cystic hygroma |
| HP:0100530 |
Abnormality of calcium-phosphate metabolism |
| HP:0011130 |
Abnormality of renal calyx morphology |
| HP:0030451 |
Mesenteric cyst |
| HP:0100437 |
Bullet-shaped proximal phalanx of the 3rd toe |
| HP:0000690 |
Agenesis of maxillary lateral incisor |
| HP:0100317 |
Argyrophilic inclusion bodies |
| HP:0012578 |
Membranous nephropathy |
| HP:0040100 |
Abnormality of the vestibular window |
| HP:0011581 |
Double outlet left ventricle |
| HP:0008272 |
Renal tubular lysine transport defect |
| HP:0007263 |
Spinocerebellar atrophy |
| HP:0005281 |
Hypoplastic nasal bridge |
| HP:0012052 |
Low serum calcitriol |
| HP:0003270 |
Abdominal distention |
| HP:0100542 |
Abnormal localization of kidney |
| HP:0040232 |
Delayed onset bleeding |
| HP:0002465 |
Poor speech |
| HP:0003138 |
Increased blood urea nitrogen |
| HP:0002655 |
Spondyloepiphyseal dysplasia |
| HP:0012525 |
Abnormal alpha granule distribution |
| HP:0004031 |
Broad radial diaphysis |
| HP:0003460 |
Total immunoglobulin A deficiency |
| HP:0011676 |
Tetralogy of Fallot with absent subarterial conus |
| HP:0100202 |
Absent epiphysis of the distal phalanx of the 5th toe |
| HP:0008165 |
Reduced circulating T-helper cells |
| HP:0008263 |
Thyroid defect in oxidation and organification of iodide |
| HP:0004871 |
Perineal fistula |
| HP:0001864 |
Clinodactyly of the 5th toe |
| HP:0002633 |
Vasculitis |
| HP:0004325 |
Decreased body weight |
| HP:0001065 |
Striae distensae |
| HP:0006637 |
Sternal punctate calcifications |
| HP:0008223 |
Compensated hypothyroidism |
| HP:0008414 |
Lumbar kyphosis in infancy |
| HP:0002921 |
Abnormality of the cerebrospinal fluid |
| HP:0001217 |
Clubbing |
| HP:0200123 |
Chronic hepatitis |
| HP:0009756 |
Popliteal pterygium |
| HP:0007280 |
Acute infantile spinal muscular atrophy |
| HP:0008752 |
Laryngeal cartilage malformation |
| HP:0012230 |
Rhegmatogenous retinal detachment |
| HP:0011809 |
Paradoxical myotonia |
| HP:0009343 |
Small epiphysis of the distal phalanx of the 3rd finger |
| HP:0007016 |
Corticospinal tract hypoplasia |
| HP:0008453 |
Congenital kyphoscoliosis |
| HP:0012303 |
Abnormality of the aortic arch |
| HP:0012540 |
Axillary epidermoid cyst |
| HP:0004024 |
Medially sloping radial metaphysis |
| HP:0012383 |
Bidirectional shunt |
| HP:0010953 |
Noncommunicating hydrocephalus |
| HP:0004864 |
Refractory sideroblastic anemia |
| HP:0030201 |
Response to drugs acting on neuromuscular transmission |
| HP:0008542 |
Low-frequency hearing loss |
| HP:0000376 |
Incomplete partition of the cochlea type II |
| HP:0010534 |
Transient global amnesia |
| HP:0009611 |
Bifid distal phalanx of the thumb |
| HP:0003760 |
Percussion-induced rapid rolling muscle contractions |
| HP:0003490 |
Defective dehydrogenation of isovaleryl CoA and butyryl CoA |
| HP:0002867 |
Abnormality of the ilium |
| HP:0025062 |
Geophagia |
| HP:0009533 |
Stippling of the epiphysis of the proximal phalanx of the 2nd finger |
| HP:0100894 |
Broad xiphoid process |
| HP:0030290 |
Unossified sacrum |
| HP:0009178 |
Symphalangism of middle phalanx of 5th finger |
| HP:0002589 |
Gastrointestinal atresia |
| HP:0008066 |
Abnormal blistering of the skin |
| HP:0009741 |
Nephrosclerosis |
| HP:0000381 |
Stapes ankylosis |
| HP:0001089 |
Iris atrophy |
| HP:0005890 |
Hyperostosis cranialis interna |
| HP:0007566 |
Index finger dermatoglyphic radial loop |
| HP:0009306 |
Triangular shaped distal phalanx of the 4th finger |
| HP:0010674 |
Abnormality of the curvature of the vertebral column |
| HP:0030502 |
Retinoschisis |
| HP:0001989 |
Fetal akinesia sequence |
| HP:0000660 |
Lipemia retinalis |
| HP:3000006 |
Abnormality of medial pterygoid muscle |
| HP:0002711 |
Exaggerated median tongue furrow |
| HP:0002138 |
Subarachnoid hemorrhage |
| HP:0011482 |
Abnormality of the lacrimal gland |
| HP:0025268 |
Stuttering |
| HP:0030618 |
Increased OCT-measured foveal thickness |
| HP:0008800 |
Limited hip movement |
| HP:0003738 |
Exercise-induced myalgia |
| HP:0011498 |
Partial aniridia |
| HP:0009270 |
Stippling of the epiphysis of the proximal phalanx of the 4th finger |
| HP:0010710 |
3-5 finger syndactyly |
| HP:0009624 |
Contractures of the carpometacarpal joint of the thumb |
| HP:0002528 |
Granulovacuolar degeneration |
| HP:0009932 |
Single naris |
| HP:0001327 |
Photomyoclonic seizures |
| HP:0010731 |
Extension of eyebrows towards upper eyelid |
| HP:0100467 |
Patchy sclerosis of the distal phalanx of the 3rd toe |
| HP:0004036 |
Long styloid process of ulna |
| HP:0004021 |
Lytic defects of radial metaphysis |
| HP:0008583 |
Underfolded superior helices |
| HP:0010993 |
Abnormality of the cerebral subcortex |
| HP:0100080 |
Enlarged epiphyses of the 5th toe |
| HP:0009539 |
Contracture of the metacarpophalangeal joint of the 2nd finger |
| HP:0011232 |
Infra-orbital fold |
| HP:0011047 |
Agenesis of primary mandibular central incisor |
| HP:0100319 |
Cerebral hyaline bodies |
| HP:0012517 |
Reduced catalase activity |
| HP:0009494 |
Ivory epiphyses of the 2nd finger |
| HP:0100827 |
Lymphocytosis |
| HP:0006520 |
Progressive pulmonary function impairment |
| HP:0012680 |
Abnormality of the pineal gland |
| HP:0007082 |
Dilated third ventricle |
| HP:0007362 |
Aplasia/Hypoplasia of the brainstem |
| HP:0030036 |
Isothenuria |
| HP:0004768 |
Sparse anterior scalp hair |
| HP:0011377 |
Aplasia of the vestibule |
| HP:0002495 |
Impaired vibratory sensation |
| HP:0100124 |
Cone-shaped epiphysis of the proximal phalanx of the 2nd toe |
| HP:0001780 |
Abnormality of toe |
| HP:0009139 |
Osteolysis involving bones of the lower limbs |
| HP:0007971 |
Lamellar cataract |
| HP:0040183 |
Encopresis |
| HP:0012454 |
Unilateral wrist flexion contracture |
| HP:0007542 |
Absent pigmentation of the ventral chest |
| HP:0100507 |
Folate deficiency |
| HP:0005572 |
Decreased renal tubular phosphate excretion |
| HP:0000048 |
Bifid scrotum |
| HP:0005479 |
IgE deficiency |
| HP:0009704 |
Chronic CSF lymphocytosis |
| HP:0004220 |
Short middle phalanx of the 5th finger |
| HP:0010393 |
Abnormality of the middle phalanx of the 5th toe |
| HP:0100474 |
Symphalangism affecting the proximal phalanx of the 4th toe |
| HP:0100653 |
Optic neuritis |
| HP:0010401 |
Symphalangism affecting the proximal phalanx of the 2nd toe |
| HP:0004891 |
Recurrent infections due to aspiration |
| HP:0003891 |
Abnormality of the humeral epiphysis |
| HP:0030723 |
Congenital megalourethra |
| HP:0002439 |
Frontolimbic dementia |
| HP:0002024 |
Malabsorption |
| HP:0009307 |
Patchy sclerosis of the middle phalanx of the 4th finger |
| HP:0010389 |
Symphalangism affecting the phalanges of the 5th toe |
| HP:0006919 |
Abnormal aggressive, impulsive or violent behavior |
| HP:0005676 |
Rudimentary postaxial polydactyly of hands |
| HP:0003609 |
Foam cells with lamellar inclusion bodies |
| HP:0006390 |
Anterior tibial bowing |
| HP:0025343 |
Lupus anticoagulant |
| HP:0009946 |
Polydactyly affecting the 2nd finger |
| HP:0005793 |
Shortening of all distal phalanges of the toes |
| HP:0004752 |
Congenital atrioventricular dissociation |
| HP:0030545 |
Unaided visual acuity 1.0 LogMAR |
| HP:0011382 |
Hypoplasia of the semicircular canal |
| HP:0006549 |
Unilateral primary pulmonary dysgenesis |
| HP:0010267 |
Triangular epiphyses of the middle phalanges of the hand |
| HP:0010297 |
Bifid tongue |
| HP:0030118 |
Reduced muscle fiber emerin |
| HP:0012398 |
Peripheral edema |
| HP:0003491 |
Elevated urine pyrophosphate |
| HP:0002808 |
Kyphosis |
| HP:0003279 |
Coxa magna |
| HP:0000605 |
Supranuclear gaze palsy |
| HP:0009466 |
Radial deviation of finger |
| HP:0001591 |
Bell-shaped thorax |
| HP:0002548 |
Parkinsonism with favorable response to dopaminergic medication |
| HP:0010441 |
Ectopic accessory finger-like appendage |
| HP:0100153 |
Pseudoepiphysis of the middle phalanx of the 3rd toe |
| HP:0001370 |
Rheumatoid arthritis |
| HP:0008186 |
Adrenocortical cytomegaly |
| HP:0025329 |
Anti-glutamic acid decarboxylase antibody positivity |
| HP:0003715 |
Myofibrillar myopathy |
| HP:0009574 |
Symphalangism of middle phalanx of 2nd finger |
| HP:0009615 |
Complete duplication of the first metacarpal |
| HP:0011440 |
Alcohol-induced rhabdomyolysis |
| HP:0000499 |
Abnormality of the eyelashes |
| HP:0003119 |
Abnormality of lipid metabolism |
| HP:0000707 |
Abnormality of the nervous system |
| HP:0001615 |
Hoarse cry |
| HP:0030666 |
Retinal neovascularization |
| HP:0006261 |
Abnormality of phalangeal joints of the hand |
| HP:0030161 |
Vaginal pruritus |
| HP:0025063 |
Scaphoid abdomen |
| HP:0008802 |
Hypoplasia of the femoral head |
| HP:0008716 |
Urethrovaginal fistula |
| HP:0030607 |
Reduced OCT-measured macular thickness |
| HP:0008062 |
Aplasia/Hypoplasia affecting the anterior segment of the eye |
| HP:0040102 |
Osseous atresia of the external auditory canal |
| HP:0007499 |
Recurrent staphylococcal infections |
| HP:0010557 |
Overlapping fingers |
| HP:0001105 |
Retinal atrophy |
| HP:0000520 |
Proptosis |
| HP:0100656 |
Thoracoabdominal wall defect |
| HP:0005588 |
Patchy palmoplantar keratoderma |
| HP:0005943 |
Respiratory arrest |
| HP:0008244 |
Congenital adrenal hypoplasia |
| HP:0005026 |
Mesomelic/rhizomelic limb shortening |
| HP:0002168 |
Scanning speech |
| HP:0006959 |
Proximal spinal muscular atrophy |
| HP:0009109 |
Denervation of the diaphragm |
| HP:0100819 |
Intestinal fistula |
| HP:0003053 |
Epiphyseal deformities of tubular bones |
| HP:0004846 |
Prolonged bleeding after surgery |
| HP:0009887 |
Abnormality of hair pigmentation |
| HP:0007432 |
Intermittent generalized erythematous papular rash |
| HP:0012239 |
Atransferrinemia |
| HP:0040250 |
Reduced prothrombin antigen |
| HP:0025050 |
Elevated brain creatine level by MRS |
| HP:0030539 |
Unaided visual acuity 0.4 LogMAR |
| HP:0007033 |
Cerebellar dysplasia |
| HP:0040189 |
Scaling skin |
| HP:0011006 |
Abnormality of the musculature of the neck |
| HP:0012738 |
Agenesis of canine |
| HP:0100142 |
Pseudoepiphysis of the distal phalanx of the 3rd toe |
| HP:0002761 |
Generalized joint laxity |
| HP:0045055 |
Tiger tail banding |
| HP:0010721 |
Abnormal hair whorl |
| HP:0010474 |
Bladder stones |
| HP:0012412 |
Premature adrenarche |
| HP:0009265 |
Fragmentation of the epiphysis of the proximal phalanx of the 4th finger |
| HP:0004443 |
Lambdoidal craniosynostosis |
| HP:0000891 |
Cervical ribs |
| HP:0003208 |
Fingerprint intracellular accumulation of autofluorescent lipopigment storage material |
| HP:0007881 |
Central corneal dystrophy |
| HP:0005609 |
Gallbladder dysfunction |
| HP:0006429 |
Broad femoral neck |
| HP:0012070 |
Chondroitin sulfate excretion in urine |
| HP:0010397 |
Bullet-shaped proximal phalanx of the 2nd toe |
| HP:0004633 |
Lower thoracic kyphosis |
| HP:0100717 |
Abnormality of the cementum |
| HP:0010538 |
Small sella turcica |
| HP:0012710 |
Ingrown nail |
| HP:0030202 |
Favorable response of weakness to acetylcholine esterase inhibitors |
| HP:0005222 |
Bowel diverticulosis |
| HP:0012366 |
Basilar invagination |
| HP:0005130 |
Restrictive heart failure |
| HP:0006695 |
Atrioventricular canal defect |
| HP:0012715 |
Profound hearing impairment |
| HP:0005416 |
Decreased serum complement factor B |
| HP:0010640 |
Abnormality of the nasal cavity |
| HP:0002719 |
Recurrent infections |
| HP:0007989 |
Intraretinal exudate |
| HP:0000813 |
Bicornuate uterus |
| HP:0006463 |
Rickets of the lower limbs |
| HP:0009290 |
Short distal phalanx of the 4th finger |
| HP:0002510 |
Spastic tetraplegia |
| HP:0011923 |
Decreased activity of mitochondrial complex I |
| HP:0002141 |
Gait imbalance |
| HP:0045035 |
Decreased urinary copper concentration |
| HP:0100705 |
Abnormality of the glial cells |
| HP:0030556 |
Best corrected visual acuity 0.3 LogMAR |
| HP:0008112 |
Plantar flexion contractures |
| HP:0011508 |
Macular hole |
| HP:0010131 |
Fragmentation of the epiphysis of the proximal phalanx of the hallux |
| HP:0012726 |
Episodic hypokalemia |
| HP:0100737 |
Abnormality of the hard palate |
| HP:0008820 |
Absent ossification of capital femoral epiphysis |
| HP:0008963 |
Tibialis muscle weakness |
| HP:0003038 |
Fibular hypoplasia |
| HP:0002246 |
Abnormality of the duodenum |
| HP:0045053 |
Abnormality of the lumbosacral nerve plexus |
| HP:0012526 |
Absence of alpha granules |
| HP:0000114 |
Proximal tubulopathy |
| HP:0009226 |
Short proximal phalanx of the 5th finger |
| HP:0030873 |
Anticentromere antibody positivity |
| HP:0011244 |
Abnormality of stem of antihelix |
| HP:0011273 |
Anisocytosis |
| HP:0100797 |
Toenail dysplasia |
| HP:0003940 |
Osteoarthritis of the elbow |
| HP:0045056 |
Abnormal levels of alpha-fetoprotein |
| HP:0100455 |
Osteolytic defects of the proximal phalanx of the 3rd toe |
| HP:0011725 |
Chaotic multifocal atrial tachycardia |
| HP:0006378 |
Osteolysis of patellae |
| HP:0003924 |
Stippled calcification of humeral metaphysis |
| HP:0030498 |
Macular thickening |
| HP:0010201 |
Triangular shaped middle phalanges of the toes |
| HP:0001653 |
Mitral regurgitation |
| HP:0009543 |
Abnormality of the middle phalanx of the 2nd finger |
| HP:0010430 |
Aplasia of the phalanges of the 2nd toe |
| HP:0030617 |
Abnormal OCT-measured foveal thickness |
| HP:0012178 |
Reduced natural killer cell activity |
| HP:0008133 |
Distal tapering of metatarsals |
| HP:0010199 |
Patchy sclerosis of middle toe phalanx |
| HP:3000054 |
Abnormality of inferior alveolar artery |
| HP:0006268 |
Fluctuating splenomegaly |
| HP:0004451 |
Postauricular skin tag |
| HP:0012465 |
Elevated hepatic iron concentration |
| HP:0100345 |
Tibial deviation of the 2nd toe |
| HP:0004941 |
Extrahepatic portal hypertension |
| HP:0006585 |
Congenital pseudoarthrosis of the clavicle |
| HP:0009382 |
Absent epiphyses of the 5th finger |
| HP:0009402 |
Stippling of the epiphyses of the 4th finger |
| HP:0010434 |
Aplasia of the middle phalanx of the 2nd toe |
| HP:0006264 |
Aplasia/Hypoplasia of the 2nd finger |
| HP:0010820 |
Dacrystic seizures |
| HP:0030892 |
Deep cerebral white matter hyperdensities |
| HP:0030050 |
Narcolepsy |
| HP:0011620 |
Abnormality of abdominal situs |
| HP:0011949 |
Acute infectious pneumonia |
| HP:0000346 |
Whistling appearance |
| HP:0100170 |
Bracket epiphysis of the distal phalanx of the 4th toe |
| HP:0004281 |
Irregular sclerosis of hand bones |
| HP:0006099 |
Metacarpophalangeal joint hyperextensibility |
| HP:0030277 |
Abnormal vertebral pedicle morphology |
| HP:0009468 |
Deviation of the 2nd finger |
| HP:0005725 |
Nonopposable triphalangeal thumb |
| HP:0009098 |
Chronic oral candidiasis |
| HP:0000938 |
Osteopenia |
| HP:0030455 |
Abnormality of pattern visual evoked potentials |
| HP:0040233 |
Factor XIII subunit A deficiency |
| HP:0001537 |
Umbilical hernia |
| HP:0001901 |
Polycythemia |
| HP:0005376 |
Recurrent Haemophilus influenzae infections |
| HP:0000395 |
Prominent antihelix |
| HP:0009252 |
Cone-shaped epiphysis of the distal phalanx of the 4th finger |
| HP:0012317 |
Sacroiliac arthritis |
| HP:0011099 |
Spastic hemiparesis |
| HP:0100196 |
Irregular epiphysis of the proximal phalanx of the 4th toe |
| HP:0011467 |
Absent gallbladder |
| HP:0004057 |
Mitten deformity |
| HP:0003741 |
Congenital muscular dystrophy |
| HP:0011261 |
Darwin tubercle of helix |
| HP:0001388 |
Joint laxity |
| HP:0030713 |
Vein of Galen aneurysmal malformation |
| HP:0100950 |
Long chain 3 hydroxyacyl coA dehydrogenase deficiency |
| HP:0006209 |
Partial-complete absence of 5th phalanges |
| HP:0008733 |
Dysplastic testes |
| HP:0001300 |
Parkinsonism |
| HP:0030337 |
Elevated CD4-positive, CD25-positive regulatory T cell count |
| HP:0012111 |
Abnormality of circulating glucocorticoid level |
| HP:0200154 |
Agenesis of mandibular lateral incisor |
| HP:0012273 |
Increased carotid artery intimal medial thickness |
| HP:0009404 |
Broad phalanges of the 4th finger |
| HP:0012169 |
Self-biting |
| HP:0000107 |
Renal cyst |
| HP:0007799 |
Conjunctival whitish salt-like deposits |
| HP:0007597 |
Congenital palmoplantar keratodermia |
| HP:0008326 |
Vitamin B6 deficiency |
| HP:0005063 |
Fragmented, irregular epiphyses |
| HP:0008347 |
Decreased activity of mitochondrial complex IV |
| HP:0010585 |
Small epiphyses |
| HP:0000820 |
Abnormality of the thyroid gland |
| HP:0030180 |
Oppenheim reflex |
| HP:0000706 |
Unerupted tooth |
| HP:0012233 |
Intramuscular hematoma |
| HP:0100889 |
Abnormality of the ductus choledochus |
| HP:0008417 |
Vertebral hypoplasia |
| HP:0011952 |
Acute aspiration pneumonia |
| HP:0005465 |
Facial hyperostosis |
| HP:0002756 |
Pathologic fracture |
| HP:0003202 |
Skeletal muscle atrophy |
| HP:0011239 |
Underdeveloped inferior crus of antihelix |
| HP:0001180 |
Hand oligodactyly |
| HP:0001761 |
Pes cavus |
| HP:0003528 |
Elevated calcitonin |
| HP:0012064 |
Unicameral bone cyst |
| HP:0001975 |
Decreased platelet glycoprotein IIb-IIIa |
| HP:0007835 |
S-shaped palpebral fissures |
| HP:0100018 |
Nuclear cataract |
| HP:0001140 |
Epibulbar dermoid |
| HP:0006496 |
Aplasia/hypoplasia involving bones of the upper limbs |
| HP:0002126 |
Polymicrogyria |
| HP:0009780 |
Iliac horns |
| HP:0004928 |
Peripheral arterial stenosis |
| HP:0000738 |
Hallucinations |
| HP:0040158 |
Short intermamillary distance |
| HP:0010289 |
Alveolar ridge cleft |
| HP:0004528 |
Generalized hypotrichosis |
| HP:0003537 |
Hypouricemia |
| HP:0100566 |
Amyelia |
| HP:0006673 |
Reduced systolic function |
| HP:0000294 |
Low anterior hairline |
| HP:0006012 |
Widened metacarpal shaft |
| HP:0012263 |
Immotile cilia |
| HP:0012900 |
Myotonia of the face |
| HP:0010794 |
Impaired visuospatial constructive cognition |
| HP:0007756 |
Slitlike anterior chamber angles in children |
| HP:0006449 |
Distal radial epiphyseal osteolysis |
| HP:0001562 |
Oligohydramnios |
| HP:0100301 |
Muscle fiber tubular inclusions |
| HP:0025353 |
Anti-multiple nuclear dots antibody positivity |
| HP:0001878 |
Hemolytic anemia |
| HP:0011996 |
Elevated factor V activity |
| HP:0012029 |
Abnormality of urine hormone level |
| HP:0012438 |
Abnormal gallbladder physiology |
| HP:0100831 |
Abnormality of vitamin K metabolism |
| HP:0030463 |
Asymmetrical distribution of flash visual evoked potentials |
| HP:0000175 |
Cleft palate |
| HP:0000135 |
Hypogonadism |
| HP:0000809 |
Urinary tract atresia |
| HP:0200117 |
Recurrent upper and lower respiratory tract infections |
| HP:0001361 |
Nystagmus-induced head nodding |
| HP:0007590 |
Aplasia cutis congenita over posterior parietal area |
| HP:0012628 |
Abnormality of the suspensory ligament of lens |
| HP:0005575 |
Hemolytic-uremic syndrome |
| HP:0002723 |
Absence of bactericidal oxidative 'respiratory burst' in phagocytes |
| HP:0010001 |
Complete duplication of the distal phalanges of the hand |
| HP:0008568 |
Vestibular areflexia |
| HP:0000268 |
Dolichocephaly |
| HP:0002632 |
Low-to-normal blood pressure |
| HP:0005720 |
Shortening of all metacarpals |
| HP:0009296 |
Bullet-shaped middle phalanx of the 4th finger |
| HP:0005261 |
Joint hemorrhage |
| HP:0005363 |
Partial humoral immunodeficiency |
| HP:0010046 |
Aplasia of the 5th metacarpal |
| HP:0010871 |
Sensory ataxia |
| HP:0009410 |
Absent epiphyses of the 3rd finger |
| HP:0002625 |
Deep venous thrombosis |
| HP:0003863 |
Angulated humerus |
| HP:0000852 |
Pseudohypoparathyroidism |
| HP:0030604 |
Abnormal fundus fluorescein angiography |
| HP:0025065 |
Abnormal erythrocyte volume |
| HP:0040068 |
Abnormality of limb bone |
| HP:0430003 |
Abnormality of the palatine bone |
| HP:0012581 |
Solitary renal cyst |
| HP:0009456 |
Triangular shaped proximal phalanx of the 3rd finger |
| HP:0012806 |
Proboscis |
| HP:0030597 |
Abnormal Humphrey SITA 24-2 perimetry test |
| HP:0100156 |
Triangular epiphysis of the middle phalanx of the 3rd toe |
| HP:0006642 |
Large sternal ossification centers |
| HP:0009854 |
Curved proximal phalanges of the hand |
| HP:0001495 |
Carpal osteolysis |
| HP:0100344 |
Fibular deviation of the 2nd toe |
| HP:0009767 |
Aplasia/Hypoplasia of the phalanges of the hand |
| HP:0000466 |
Limited neck range of motion |
| HP:0009993 |
Complete duplication of the proximal phalanx of the 5th finger |
| HP:0005170 |
Complete heart block with broad RS complexes |
| HP:0010461 |
Abnormality of the male genitalia |
| HP:0001799 |
Short nail |
| HP:0010261 |
Fragmentation of the epiphyses of the middle phalanges of the hand |
| HP:0002842 |
Recurrent Burkholderia cepacia infections |
| HP:0009028 |
Generalized weakness of limb muscles |
| HP:0010134 |
Pseudoepiphysis of the proximal phalanx of the hallux |
| HP:0040179 |
Decreased level of platelet-activating factor |
| HP:0030381 |
Increased transitional B cell count |
| HP:0008986 |
Agenesis of the diaphragm |
| HP:0007760 |
Crystalline corneal dystrophy |
| HP:0010435 |
Short middle phalanx of the 2nd toe |
| HP:0000141 |
Amenorrhea |
| HP:0025277 |
Gustatory sweating |
| HP:0040052 |
Abnormality of lower eyelashes |
| HP:0007856 |
Punctate opacification of the cornea |
| HP:0012416 |
Hypercapnia |
| HP:0012461 |
Bacteriuria |
| HP:0009941 |
Asymmetry of the mouth |
| HP:0001817 |
Absent fingernail |
| HP:0006290 |
Discolored lateral incisors |
| HP:0009743 |
Distichiasis |
| HP:0030615 |
Foveal photoreceptor outer segment loss on macular OCT |
| HP:0003883 |
Tapered humerus |
| HP:0004570 |
Increased vertebral height |
| HP:0001560 |
Abnormality of the amniotic fluid |
| HP:0004771 |
Premature graying of body hair |
| HP:0012380 |
Reduced carnitine O-palmitoyltransferase activity |
| HP:0011408 |
Moderate intrauterine growth retardation |
| HP:0009327 |
Ivory epiphysis of the middle phalanx of the 3rd finger |
| HP:0012583 |
Unilateral renal hypoplasia |
| HP:0001369 |
Arthritis |
| HP:0025121 |
Simple partial occipital seizures |
| HP:0009513 |
Absent epiphysis of the middle phalanx of the 2nd finger |
| HP:0025322 |
Venous occlusion |
| HP:0030881 |
Shoulder impingement |
| HP:0007159 |
Fluctuations in consciousness |
| HP:0004900 |
Severe lactic acidosis |
| HP:0010404 |
Aplasia/Hypoplasia of the middle phalanx of the 2nd toe |
| HP:0007559 |
Localized epidermolytic hyperkeratosis |
| HP:0007961 |
Rarefaction of retinal pigmentation |
| HP:0007758 |
Congenital visual impairment |
| HP:0006191 |
Deep palmar crease |
| HP:0002007 |
Frontal bossing |
| HP:0011970 |
Cerebral amyloid angiopathy |
| HP:0002270 |
Abnormality of the autonomic nervous system |
| HP:0001477 |
Compensatory chin elevation |
| HP:0012283 |
Small distal femoral epiphysis |
| HP:0002202 |
Pleural effusion |
| HP:0008155 |
Mucopolysacchariduria |
| HP:0002583 |
Colitis |
| HP:0100359 |
Contracture of the metatarsophalangeal joint of the 5th toe |
| HP:0030828 |
Wheezing |
| HP:0009442 |
Curved phalanges of the 3rd finger |
| HP:0002780 |
Bronchomalacia |
| HP:0006946 |
Recurrent meningitis |
| HP:0011311 |
Sydney crease |
| HP:0008598 |
Mild conductive hearing impairment |
| HP:0011089 |
Double tooth |
| HP:0100058 |
Enlarged epiphyses of the 3rd toe |
| HP:0011337 |
Abnormality of mouth size |
| HP:0006254 |
Elevated alpha-fetoprotein |
| HP:0012648 |
Decreased inflammatory response |
| HP:0025238 |
Foot pain |
| HP:0012728 |
Fusiform descending thoracic aortic aneurysm |
| HP:0040254 |
Decreased size of the clitoris |
| HP:0030383 |
Abnormal marginal zone B cell count |
| HP:0010933 |
Abnormality of xanthine metabolism |
| HP:0010836 |
Abnormality of copper homeostasis |
| HP:0007408 |
Tegumentary leishmaniasis susceptibility |
| HP:0030082 |
Abnormal drinking behavior |
| HP:0030766 |
Ear pain |
| HP:0007617 |
Fine, reticulate skin pigmentation |
| HP:0005156 |
Hypoplastic left atrium |
| HP:0002093 |
Respiratory insufficiency |
| HP:0011975 |
Aminoglycoside-induced hearing loss |
| HP:0030092 |
Reduced muscle fiber merosin |
| HP:0002165 |
Pterygium of nails |
| HP:0008303 |
Olivary degeneration |
| HP:0008988 |
Pelvic girdle muscle atrophy |
| HP:0000803 |
Renal cortical cysts |
| HP:0025250 |
Closed comedo |
| HP:0200124 |
Chronic hepatitis due to cryptospridium infection |
| HP:0004034 |
Irregular olecranon |
| HP:0001102 |
Angioid streaks of the retina |
| HP:0006633 |
Glenoid fossa hypoplasia |
| HP:0100077 |
Absent epiphyses of the 5th toe |
| HP:0009970 |
Partial duplication of the proximal phalanx of the 3rd finger |
| HP:0100123 |
Bracket epiphysis of the proximal phalanx of the 2nd toe |
| HP:0011726 |
Persistent fetal circulation |
| HP:0004283 |
Narrow palm |
| HP:0007704 |
Paroxysmal involuntary eye movements |
| HP:0010952 |
Mild fetal ventriculomegaly |
| HP:0007734 |
Enlarged lacrimal glands |
| HP:0006028 |
Metaphyseal cupping of metacarpals |
| HP:0009686 |
Absent epiphyses of the thumb |
| HP:0007305 |
CNS demyelination |
| HP:0010301 |
Spinal dysraphism |
| HP:0010822 |
Scintillating scotoma |
| HP:0007285 |
Facial palsy secondary to cranial hyperostosis |
| HP:0011757 |
Posterior pituitary hypoplasia |
| HP:0011485 |
Corneolenticular adhesion |
| HP:0000657 |
Oculomotor apraxia |
| HP:0040047 |
Abnormality of the right hemidiaphragm |
| HP:0009498 |
Triangular epiphyses of the 2nd finger |
| HP:0001971 |
Hypersplenism |
| HP:0030452 |
Chylolymphatic mesenteric cyst |
| HP:0011071 |
Abnormality of permanent molar morphology |
| HP:0001933 |
Subcutaneous hemorrhage |
| HP:0030144 |
Hypoactive bowel sounds |
| HP:0007112 |
Temporal cortical atrophy |
| HP:0200065 |
Chorioretinal degeneration |
| HP:0100104 |
Fragmentation of the epiphysis of the distal phalanx of the 2nd toe |
| HP:0000564 |
Lacrimal duct atresia |
| HP:0000572 |
Visual loss |
| HP:0001027 |
Soft, doughy skin |
| HP:0030461 |
Abnormal timing of flash visual evoked potentials |
| HP:0007340 |
Lower limb muscle weakness |
| HP:0011158 |
Auditory auras |
| HP:0030905 |
Snout reflex |
| HP:0010221 |
Pseudoepiphysis of the 2nd metacarpal |
| HP:0009260 |
Triangular epiphysis of the distal phalanx of the 4th finger |
| HP:0000364 |
Hearing abnormality |
| HP:0100904 |
Sclerosis of the middle phalanx of the 2nd finger |
| HP:0000882 |
Hypoplastic scapulae |
| HP:0006670 |
Impaired myocardial contractility |
| HP:0010612 |
Plantar pits |
| HP:0040124 |
Patent tuba eustachii |
| HP:0000371 |
Acute otitis media |
| HP:0012495 |
Posterior cerebral artery stenosis |
| HP:0003203 |
Negative nitroblue tetrazolium reduction test |
| HP:0009637 |
Absent proximal phalanx of thumb |
| HP:0100534 |
Episcleritis |
| HP:0009739 |
Hypoplasia of the antihelix |
| HP:0000775 |
Abnormality of the diaphragm |
| HP:0100298 |
Motheaten muscle fibers |
| HP:0001046 |
Intermittent jaundice |
| HP:0003570 |
Molybdenum cofactor deficiency |
| HP:0100188 |
Small epiphysis of the middle phalanx of the 4th toe |
| HP:0000875 |
Episodic hypertension |
| HP:0010969 |
Abnormality of glycolipid metabolism |
| HP:0002497 |
Spastic ataxia |
| HP:0009532 |
Small epiphysis of the proximal phalanx of the 2nd finger |
| HP:0030488 |
Abnormal central response of multifocal electroretinogram |
| HP:0004529 |
Atrophic, patchy alopecia |
| HP:0000941 |
Short diaphyses |
| HP:0000951 |
Abnormality of the skin |
| HP:0010341 |
Abnormality of the epiphyses of the 5th toe |
| HP:0012794 |
Periventricular white matter hypodensities |
| HP:0000227 |
Tongue telangiectasia |
| HP:0100529 |
Abnormality of phosphate homeostasis |
| HP:0012411 |
Premature pubarche |
| HP:0007655 |
Eversion of lateral third of lower eyelids |
| HP:0100789 |
Torus palatinus |
| HP:0000199 |
Tongue nodules |
| HP:0010635 |
Partial hyposmia |
| HP:0030351 |
Urticarial plaque |
| HP:0100572 |
Fibrous cardiac diverticulum |
| HP:0004364 |
Abnormality of nitrogen compound homeostasis |
| HP:0003550 |
Predominantly lower limb lymphedema |
| HP:0012075 |
Personality disorder |
| HP:0000062 |
Ambiguous genitalia |
| HP:0030264 |
Webbed penis |
| HP:0000485 |
Megalocornea |
| HP:0011424 |
Increased serum zinc |
| HP:0100430 |
Broad proximal phalanx of the 5th toe |
| HP:0100030 |
Accessory ectopic thyroid tissue |
| HP:0005867 |
Fused fourth and fifth metacarpals |
| HP:0000215 |
Thick upper lip vermilion |
| HP:0007185 |
Loss of consciousness |
| HP:0011562 |
Straddling atrioventricular valve |
| HP:0030048 |
Colpocephaly |
| HP:0001394 |
Cirrhosis |
| HP:0010043 |
Aplasia of the 4th metacarpal |
| HP:0000597 |
Ophthalmoparesis |
| HP:0040258 |
Hypoplastic nasopharyngeal adenoids |
| HP:0010889 |
Morbus Kienboeck |
| HP:0006712 |
Aplasia/Hypoplasia of the ribs |
| HP:0007332 |
Hemifacial seizures |
| HP:0002155 |
Hypertriglyceridemia |
| HP:0001551 |
Abnormality of the umbilicus |
| HP:0012006 |
Jamais vu |
| HP:0100023 |
Recurrent hand flapping |
| HP:0001177 |
Preaxial hand polydactyly |
| HP:0006980 |
Progressive leukoencephalopathy |
| HP:0003103 |
Abnormal cortical bone morphology |
| HP:0011669 |
Left superior vena cava draining directly to the left atrium |
| HP:0012485 |
Abnormal surface-connected open canalicular system |
| HP:0010901 |
Abnormality of methionine metabolism |
| HP:0006897 |
Cranial nerve VI palsy |
| HP:0001099 |
Fundus atrophy |
| HP:0100281 |
Chronic colitis |
| HP:0009500 |
Abnormality of the epiphysis of the middle phalanx of the 2nd finger |
| HP:0011989 |
Ectopic ossification in ligament tissue |
| HP:0100898 |
Connective tissue nevi |
| HP:0000051 |
Perineal hypospadias |
| HP:0430014 |
Abnormality of musculature of soft palate |
| HP:0006193 |
Thimble-shaped middle phalanges of hand |
| HP:0004790 |
Hypoplasia of the small intestine |
| HP:0008269 |
Increased red cell hemolysis by shear stress |
| HP:0008372 |
Abnormality of vitamin A metabolism |
| HP:0005927 |
Aplasia/hypoplasia involving bones of the hand |
| HP:0012009 |
EEG with central focal spike waves |
| HP:0001326 |
EEG with irregular generalized spike and wave complexes |
| HP:0010477 |
Aplasia of the bladder |
| HP:0000162 |
Glossoptosis |
| HP:0100295 |
Muscle fiber atrophy |
| HP:0012331 |
Abnormal autonomic nervous system morphology |
| HP:0000798 |
Oligospermia |
| HP:0030007 |
EMG: positive sharp waves |
| HP:0030938 |
Enteric intraneuronal nuclear inclusion bodies |
| HP:0002027 |
Abdominal pain |
| HP:0000958 |
Dry skin |
| HP:0009991 |
Complete duplication of the distal phalanx of the 5th finger |
| HP:0010442 |
Polydactyly |
| HP:0025358 |
Uveal ectropion |
| HP:0030390 |
Abnormality of leukotriene metabolism |
| HP:0010780 |
Hyperacusis |
| HP:0011178 |
Alpha-EEG |
| HP:0005190 |
Proximal finger joint hyperextensibility |
| HP:0004324 |
Increased body weight |
| HP:0002550 |
Absent facial hair |
| HP:0009847 |
Osteolytic defects of the middle phalanges of the hand |
| HP:0011557 |
Double inlet to single ventricle of indeterminate morphology |
| HP:0006048 |
Distal widening of metacarpals |
| HP:0002445 |
Tetraplegia |
| HP:0001033 |
Facial flushing after alcohol intake |
| HP:0002410 |
Aqueductal stenosis |
| HP:0025337 |
Red eye |
| HP:0009136 |
Duplication involving bones of the feet |
| HP:0009293 |
Broad middle phalanx of the 4th finger |
| HP:0009633 |
Osteolytic defect of the proximal phalanx of the thumb |
| HP:0010491 |
Digital constriction ring |
| HP:0030308 |
Flared distal tibial metaphysis |
| HP:0012115 |
Hepatitis |
| HP:0009746 |
Thick nasal septum |
| HP:0010411 |
Triangular shaped middle phalanx of the 2nd toe |
| HP:0012599 |
Abnormal urine phosphate concentration |
| HP:0030300 |
10 pairs of ribs |
| HP:0030778 |
Modic type III vertebral endplate changes |
| HP:0005930 |
Abnormality of epiphysis morphology |
| HP:0001924 |
Sideroblastic anemia |
| HP:0003149 |
Hyperuricosuria |
| HP:0007634 |
Nonarteritic anterior ischemic optic neuropathy |
| HP:0001268 |
Mental deterioration |
| HP:0010335 |
Abnormality of the epiphyses of the 4th toe |
| HP:0004033 |
Curved olecranon |
| HP:0002340 |
Caudate atrophy |
| HP:0007765 |
Deep anterior chamber |
| HP:0007311 |
Short stepped shuffling gait |
| HP:0000582 |
Upslanted palpebral fissure |
| HP:0045009 |
Abnormal morphology of the radius |
| HP:0004306 |
Abnormality of the endocardium |
| HP:0011877 |
Increased mean platelet volume |
| HP:0001103 |
Abnormality of the macula |
| HP:0004782 |
Hypotrichosis of the scalp |
| HP:0001342 |
Cerebral hemorrhage |
| HP:0011991 |
Abnormal neutrophil cell number |
| HP:0003090 |
Hypoplasia of the capital femoral epiphysis |
| HP:0040256 |
Aplastic/Hypoplastic nasopharyngeal adenoids |
| HP:0025032 |
Abnormality of digestive system physiology |
| HP:0100096 |
Abnormality of the epiphysis of the proximal phalanx of the 4th toe |
| HP:0006353 |
Hypoplasia of the tooth germ |
| HP:0001804 |
Hypoplastic fingernail |
| HP:0002311 |
Incoordination |
| HP:0003205 |
Curvilinear intracellular accumulation of autofluorescent lipopigment storage material |
| HP:0010212 |
Flexion contracture of the hallux |
| HP:0002326 |
Transient ischemic attack |
| HP:0006957 |
Loss of ability to walk |
| HP:0011334 |
Facial shape deformation |
| HP:0007468 |
Perifollicular hyperkeratosis |
| HP:0011560 |
Mitral atresia |
| HP:0001019 |
Erythroderma |
| HP:0010972 |
Anemia of inadequate production |
| HP:0009798 |
Euthyroid goiter |
| HP:0100289 |
Abnormality of pattern reversal visual evoked potentials |
| HP:0000308 |
Microretrognathia |
| HP:0005617 |
Bilateral camptodactyly |
| HP:0011955 |
Hepatic granulomatosis |
| HP:0006640 |
Multiple rib fractures |
| HP:0005733 |
Spinal stenosis with reduced interpedicular distance |
| HP:0010396 |
Broad proximal phalanx of the 2nd toe |
| HP:0006690 |
Myocardial calcification |
| HP:0000712 |
Emotional lability |
| HP:0001134 |
Anterior polar cataract |
| HP:0012458 |
Medial calcification of small arteries |
| HP:0004764 |
Myxomatous mitral valve degeneration |
| HP:0010962 |
Extralobar sequestration |
| HP:0002179 |
Opisthotonus |
| HP:0005967 |
Mixed respiratory and metabolic acidosis |
| HP:0002058 |
Myopathic facies |
| HP:0005926 |
Abnormality of hand cortical bone |
| HP:0012279 |
Hyposerinemia |
| HP:0001997 |
Gout |
| HP:0003327 |
Axial muscle weakness |
| HP:0005435 |
Impaired T cell function |
| HP:0010711 |
1-2 toe syndactyly |
| HP:0100424 |
Partial duplication of the proximal phalanx of the 5th toe |
| HP:0001760 |
Abnormality of the foot |
| HP:0012622 |
Chronic kidney disease |
| HP:0000975 |
Hyperhidrosis |
| HP:0006086 |
Thin metacarpal cortices |
| HP:0030015 |
Female anorgasmia |
| HP:0007346 |
Subcortical white matter calcifications |
| HP:0009585 |
Patchy sclerosis of the proximal phalanx of the 2nd finger |
| HP:0007925 |
Lacrimal duct aplasia |
| HP:0001125 |
Transient unilateral blurring of vision |
| HP:0010903 |
Abnormality of glutamine metabolism |
| HP:0001293 |
Cranial nerve compression |
| HP:3000049 |
Abnormality of greater palatine artery |
| HP:0009201 |
Stippling of the epiphysis of the proximal phalanx of the 5th finger |
| HP:0006595 |
Scapulohumeral synostosis |
| HP:0003026 |
Short long bone |
| HP:0040165 |
Periostitis |
| HP:0006821 |
Polymicrogyria, anterior to posterior gradient |
| HP:0000830 |
Anterior hypopituitarism |
| HP:0030323 |
Unilateral vertebral artery hypoplasia |
| HP:0030688 |
Increased glucagon level |
| HP:0010726 |
Prominent corneal nerve fibers |
| HP:0100919 |
Sclerosis of 3rd finger phalanx |
| HP:0009840 |
Patchy sclerosis of distal phalanx of finger |
| HP:0004523 |
Long eyebrows |
| HP:0011716 |
Junctional ectopic tachycardia |
| HP:0010198 |
Osteolytic defects of the middle phalanges of the toes |
| HP:0002476 |
Primitive reflex |
| HP:0040057 |
Abnormality of nasal hair |
| HP:0100695 |
Lipedema |
| HP:0100937 |
Sclerosis of the middle phalanx of the 4th toe |
| HP:0003957 |
Cortical thickening of the forearm bones |
| HP:0000614 |
Abnormality of the nasolacrimal system |
| HP:0012702 |
Tenesmus |
| HP:0002242 |
Abnormality of the intestine |
| HP:0003649 |
Abnormality of glycoside metabolism |
| HP:0030868 |
Monorchism |
| HP:0003779 |
Antegonial notching of mandible |
| HP:0005656 |
Positional foot deformity |
| HP:0100305 |
Ring fibers |
| HP:0430025 |
Bilateral facial palsy |
| HP:0012545 |
Reduced aldolase level |
| HP:0003375 |
Narrow greater sacrosciatic notches |
| HP:0006313 |
Widely spaced primary teeth |
| HP:0008093 |
Short 4th toe |
| HP:0000054 |
Micropenis |
| HP:0030891 |
Periventricular white matter hyperdensities |
| HP:0006827 |
Atrophy of the spinal cord |
| HP:0007750 |
Hypoplasia of the fovea |
| HP:0004037 |
Abnormality of the ulnar epiphyses |
| HP:0012612 |
Abnormal urinary sulfate concentration |
| HP:0001234 |
Hitchhiker thumb |
| HP:0009641 |
Aplasia/Hypoplasia of the distal phalanx of the thumb |
| HP:0100602 |
Preeclampsia |
| HP:0010978 |
Abnormality of immune system physiology |
| HP:0008214 |
Decreased serum estradiol |
| HP:0004392 |
Prune belly |
| HP:0040065 |
Abnormal morphology of bones of the upper limbs |
| HP:0010543 |
Opsoclonus |
| HP:0010791 |
Hyperplasia of the Leydig cells |
| HP:0009152 |
Abnormality of the epiphyses of the 5th finger |
| HP:0000270 |
Delayed cranial suture closure |
| HP:0011601 |
Rightward direction of ventricular apex |
| HP:0100523 |
Liver abscess |
| HP:0100193 |
Cone-shaped epiphysis of the proximal phalanx of the 4th toe |
| HP:0005259 |
Abnormal facility in opposing the shoulders |
| HP:0030260 |
Microphallus |
| HP:0009822 |
Aplasia involving forearm bones |