Phenotypic abnormality |
1318 |
Abnormality of prenatal development or birth |
429 |
Abnormality of the immune system |
398 |
Abnormality of immune system physiology |
373 |
Abnormality of the musculoskeletal system |
240 |
Abnormality of the skeletal system |
226 |
Abnormal skeletal morphology |
224 |
Abnormality of metabolism/homeostasis |
203 |
Abnormality of blood and blood-forming tissues |
188 |
Abnormality of humoral immunity |
185 |
Abnormal cellular phenotype |
170 |
Abnormal cellular physiology |
170 |
Abnormal circulating immunoglobulin concentration |
170 |
Abnormal leukocyte physiology |
170 |
Abnormal lymphocyte physiology |
170 |
Abnormality of B cell physiology |
170 |
Skeletal dysplasia |
150 |
Abnormality of the nervous system |
99 |
Abnormal nervous system physiology |
95 |
Neurodevelopmental abnormality |
81 |
Abnormal respiratory system physiology |
60 |
Abnormality of the respiratory system |
60 |
Abnormality of the endocrine system |
50 |
Abnormality of the integument |
47 |
Abnormal skin morphology |
39 |
Abnormality of the skin |
39 |
Abnormality of limbs |
34 |
Abnormal appendicular skeleton morphology |
33 |
Abnormal limb bone morphology |
33 |
Abnormality of limb bone |
33 |
Abnormal axial skeleton morphology |
32 |
Abnormal immune system morphology |
32 |
Epidermal thickening |
32 |
Thickened skin |
32 |
Abnormal digit morphology |
31 |
Abnormal bone structure |
24 |
Abnormal eye morphology |
24 |
Abnormal fundus morphology |
24 |
Abnormal posterior eye segment morphology |
24 |
Abnormality of the eye |
24 |
Abnormal respiratory system morphology |
21 |
Abnormal thorax morphology |
21 |
Abnormal lung morphology |
20 |
Abnormal pulmonary interstitial morphology |
20 |
Thoracic hypoplasia |
20 |
Abnormal optic nerve morphology |
19 |
Abnormal cellular immune system morphology |
18 |
Abnormal granulocyte morphology |
18 |
Abnormal leukocyte morphology |
18 |
Abnormal myeloid leukocyte morphology |
18 |
Abnormal homeostasis |
17 |
Aplasia/hypoplasia affecting bones of the axial skeleton |
17 |
Aplasia/hypoplasia involving the skeleton |
17 |
Abnormal rib cage morphology |
16 |
Abnormal rib morphology |
16 |
Aplasia/Hypoplasia involving bones of the thorax |
16 |
Aplasia/Hypoplasia of the ribs |
16 |
Growth delay |
16 |
Neurodevelopmental delay |
16 |
Short ribs |
16 |
Abnormal blood glucose concentration |
15 |
Abnormal glucose homeostasis |
15 |
Abnormality of body height |
15 |
Abnormality of complement system |
15 |
Decreased circulating antibody concentration |
14 |
Granuloma |
14 |
Short stature |
14 |
Abnormal bone ossification |
10 |
Abnormality of bone mineral density |
10 |
Abnormality of the cardiovascular system |
10 |
Increased bone mineral density |
10 |
Abnormal central motor function |
8 |
Abnormal muscle physiology |
8 |
Abnormal muscle tone |
8 |
Abnormality of connective tissue |
8 |
Abnormality of the musculature |
8 |
Abnormality of the vertebral column |
8 |
Proportionate short stature |
8 |
Scarring |
8 |
Severe short stature |
8 |
Abnormality of head or neck |
7 |
Abnormality of mental function |
7 |
Abnormality of the genitourinary system |
7 |
Abnormality of the head |
7 |
Abnormality of the urinary system |
7 |
Abnormality of the urinary system physiology |
7 |
Hypotonia |
7 |
Abnormal cardiovascular system physiology |
6 |
Abnormal curvature of the vertebral column |
6 |
Abnormal heart valve physiology |
6 |
Abnormal metabolism |
6 |
Abnormality of the digestive system |
6 |
Abnormality of the face |
6 |
Generalized abnormality of skin |
6 |
Prematurely aged appearance |
6 |
Abnormal liver metabolite concentration |
5 |
Abnormal liver morphology |
5 |
Abnormal renal physiology |
5 |
Abnormal retinal morphology |
5 |
Abnormal tissue metabolite concentration |
5 |
Abnormality of movement |
5 |
Abnormality of the abdominal organs |
5 |
Abnormality of the kidney |
5 |
Abnormality of the liver |
5 |
Abnormality of the parathyroid gland |
5 |
Abnormality of the parathyroid physiology |
5 |
Abnormality of the upper urinary tract |
5 |
Abnormality of vitamin B metabolism |
5 |
Abnormality of vitamin metabolism |
5 |
Hepatic steatosis |
5 |
Involuntary movements |
5 |
Lipid accumulation in hepatocytes |
5 |
Myoclonus |
5 |
Renal insufficiency |
5 |
Storage in hepatocytes |
5 |
Abnormal aortic valve physiology |
4 |
Abnormal circulating vitamin B12 concentration |
4 |
Abnormal hair morphology |
4 |
Abnormal hair quantity |
4 |
Abnormal nervous system morphology |
4 |
Abnormal skin adnexa morphology |
4 |
Abnormal skull morphology |
4 |
Abnormality of skin adnexa physiology |
4 |
Abnormality of vitamin B12 metabolism |
4 |
Cognitive impairment |
4 |
Global developmental delay |
4 |
Hyperhidrosis |
4 |
Morphological central nervous system abnormality |
4 |
Narrow chest |
4 |
Sparse hair |
4 |
Abnormal cardiovascular system morphology |
3 |
Abnormal circulating amino acid concentration |
3 |
Abnormal circulating aromatic amino acid concentration |
3 |
Abnormal circulating carboxylic acid concentration |
3 |
Abnormal circulating metabolite concentration |
3 |
Abnormal circulating organic compound concentration |
3 |
Abnormal circulating proteinogenic amino acid concentration |
3 |
Abnormal circulating tyrosine concentration |
3 |
Abnormal facial shape |
3 |
Abnormal facial skeleton morphology |
3 |
Abnormal form of the vertebral bodies |
3 |
Abnormal midface morphology |
3 |
Abnormal skeletal muscle morphology |
3 |
Abnormal vertebral morphology |
3 |
Abnormality of muscle size |
3 |
Abnormality of retinal pigmentation |
3 |
Abnormality of the lower limb |
3 |
Abnormality of the vasculature |
3 |
Hypertyrosinemia |
3 |
Pigmentary retinopathy |
3 |
Skeletal muscle atrophy |
3 |
Abnormal anterior eye segment morphology |
2 |
Abnormal atrioventricular valve physiology |
2 |
Abnormal brain morphology |
2 |
Abnormal fetal morphology |
2 |
Abnormal foot morphology |
2 |
Abnormal heart morphology |
2 |
Abnormal jaw morphology |
2 |
Abnormal mandible morphology |
2 |
Abnormal mitral valve physiology |
2 |
Abnormal musculoskeletal physiology |
2 |
Abnormal oral cavity morphology |
2 |
Abnormal oral morphology |
2 |
Abnormal urine amino acid level |
2 |
Abnormal urine metabolite level |
2 |
Abnormal uvea morphology |
2 |
Abnormal zygomatic bone morphology |
2 |
Abnormality of fluid regulation |
2 |
Abnormality of the lymphatic system |
2 |
Abnormality of the mouth |
2 |
Abnormality of urine homeostasis |
2 |
Aminoaciduria |
2 |
Aplasia/Hypoplasia involving the central nervous system |
2 |
Compulsive behaviors |
2 |
Disproportionate short stature |
2 |
Fetal anomaly |
2 |
Hydrops fetalis |
2 |
Hyperkeratosis |
2 |
Malar flattening |
2 |
Mitral stenosis |
2 |
Osteolysis |
2 |
Platyspondyly |
2 |
Recurrent maladaptive behavior |
2 |
Tics |
2 |
Abnormal blood vessel morphology |
1 |
Abnormal calvaria morphology |
1 |
Abnormal cerebellar vermis morphology |
1 |
Abnormal cerebellum morphology |
1 |
Abnormal cerebral morphology |
1 |
Abnormal cerebral subcortex morphology |
1 |
Abnormal cerebral white matter morphology |
1 |
Abnormal chorioretinal morphology |
1 |
Abnormal choroid morphology |
1 |
Abnormal cognitive process |
1 |
Abnormal communication |
1 |
Abnormal cornea morphology |
1 |
Abnormal corneal thickness |
1 |
Abnormal corpus callosum morphology |
1 |
Abnormal diaphysis morphology |
1 |
Abnormal elasticity of skin |
1 |
Abnormal endocardium morphology |
1 |
Abnormal eosinophil count |
1 |
Abnormal eosinophil morphology |
1 |
Abnormal eye physiology |
1 |
Abnormal femoral neck morphology |
1 |
Abnormal femoral neck/head morphology |
1 |
Abnormal femur morphology |
1 |
Abnormal forebrain morphology |
1 |
Abnormal frontal bone morphology |
1 |
Abnormal gastrointestinal motility |
1 |
Abnormal granulocyte count |
1 |
Abnormal hindbrain morphology |
1 |
Abnormal involuntary eye movements |
1 |
Abnormal joint morphology |
1 |
Abnormal joint physiology |
1 |
Abnormal knee morphology |
1 |
Abnormal language feature |
1 |
Abnormal leukocyte count |
1 |
Abnormal lip morphology |
1 |
Abnormal long bone morphology |
1 |
Abnormal lower limb bone morphology |
1 |
Abnormal metencephalon morphology |
1 |
Abnormal number of teeth |
1 |
Abnormal palm morphology |
1 |
Abnormal pericardium morphology |
1 |
Abnormal pulmonary thoracic imaging finding |
1 |
Abnormal shape of the frontal region |
1 |
Abnormal skin morphology of the palm |
1 |
Abnormal speech pattern |
1 |
Abnormal spinal cord morphology |
1 |
Abnormal sternum morphology |
1 |
Abnormal thymus morphology |
1 |
Abnormal upper lip morphology |
1 |
Abnormal vascular morphology |
1 |
Abnormality iris morphology |
1 |
Abnormality of body weight |
1 |
Abnormality of coordination |
1 |
Abnormality of digestive system physiology |
1 |
Abnormality of eye movement |
1 |
Abnormality of intracranial pressure |
1 |
Abnormality of joint mobility |
1 |
Abnormality of lower limb joint |
1 |
Abnormality of skeletal maturation |
1 |
Abnormality of skull size |
1 |
Abnormality of the calf |
1 |
Abnormality of the curvature of the cornea |
1 |
Abnormality of the dentition |
1 |
Abnormality of the forehead |
1 |
Abnormality of the gastrointestinal tract |
1 |
Abnormality of the hand |
1 |
Abnormality of the knee |
1 |
Abnormality of the philtrum |
1 |
Abnormality of the plantar skin of foot |
1 |
Abnormality of the spinocerebellar tracts |
1 |
Abnormality of the tonsils |
1 |
Abnormality of the upper limb |
1 |
Abnormality of vision |
1 |
Abnormally lax or hyperextensible skin |
1 |
Agenesis of corpus callosum |
1 |
Aplasia/Hypoplasia affecting the fundus |
1 |
Aplasia/Hypoplasia involving bones of the skull |
1 |
Aplasia/Hypoplasia of the cerebellar vermis |
1 |
Aplasia/Hypoplasia of the cerebellum |
1 |
Aplasia/Hypoplasia of the cerebrum |
1 |
Aplasia/Hypoplasia of the corpus callosum |
1 |
Aplasia/Hypoplasia of the mandible |
1 |
Aplasia/Hypoplasia of the optic nerve |
1 |
Aplasia/Hypoplasia of the skin |
1 |
Ataxia |
1 |
Atrophic scars |
1 |
Atrophy/Degeneration affecting the central nervous system |
1 |
Atypical scarring of skin |
1 |
Bowing of the legs |
1 |
Bowing of the long bones |
1 |
Cachexia |
1 |
Cerebellar atrophy |
1 |
Chorioretinal lacunae |
1 |
Coarse facial features |
1 |
Coloboma |
1 |
Congenital ichthyosiform erythroderma |
1 |
Coxa vara |
1 |
Decreased body weight |
1 |
Decreased corneal thickness |
1 |
Decreased intracranial pressure |
1 |
Delayed skeletal maturation |
1 |
Delayed speech and language development |
1 |
Dermal atrophy |
1 |
Disproportionate short-limb short stature |
1 |
Disproportionate short-trunk short stature |
1 |
Dysharmonic delayed bone age |
1 |
Dysharmonic skeletal maturation |
1 |
Endocardial fibrosis |
1 |
Eosinophilia |
1 |
Frontal bossing |
1 |
Functional abnormality of the gastrointestinal tract |
1 |
Gastrointestinal dysmotility |
1 |
Genu varum |
1 |
Hyperextensible skin |
1 |
Hyperlordosis |
1 |
Increased cerebral lipofuscin |
1 |
Increased corneal curvature |
1 |
Increased head circumference |
1 |
Increased neuronal autofluorescent lipopigment |
1 |
Involuntary vocalization |
1 |
Iris coloboma |
1 |
Joint hypermobility |
1 |
Keratoconus |
1 |
Language impairment |
1 |
Leukocytosis |
1 |
Long philtrum |
1 |
Macrocephaly |
1 |
Micrognathia |
1 |
Midface retrusion |
1 |
Motor tics |
1 |
Nystagmus |
1 |
Optic nerve hypoplasia |
1 |
Overgrowth |
1 |
Palmar hyperkeratosis |
1 |
Palmoplantar hyperkeratosis |
1 |
Pear-shaped vertebrae |
1 |
Pectus carinatum |
1 |
Pericardial constriction |
1 |
Phonic tics |
1 |
Plantar hyperkeratosis |
1 |
Positional foot deformity |
1 |
Pulmonary infiltrates |
1 |
Regional abnormality of skin |
1 |
Retinopathy |
1 |
Retrognathia |
1 |
Spasticity |
1 |
Spinocerebellar tract degeneration |
1 |
Square face |
1 |
Talipes |
1 |
Talipes equinovarus |
1 |
Tall stature |
1 |
Thin corpus callosum |
1 |
Tooth agenesis |
1 |
Upper motor neuron dysfunction |
1 |
Vascular dilatation |
1 |
Visual impairment |
1 |
Weight loss |
1 |
Widened atrophic scar |
1 |