| Phenotypic abnormality |
1393 |
| Abnormality of the immune system |
452 |
| Abnormality of prenatal development or birth |
449 |
| Abnormality of immune system physiology |
427 |
| Abnormality of the musculoskeletal system |
242 |
| Abnormal skeletal morphology |
226 |
| Abnormality of the skeletal system |
226 |
| Abnormality of metabolism/homeostasis |
201 |
| Abnormality of blood and blood-forming tissues |
187 |
| Abnormality of humoral immunity |
184 |
| Abnormal cellular phenotype |
169 |
| Abnormal cellular physiology |
169 |
| Abnormal circulating immunoglobulin concentration |
169 |
| Abnormal leukocyte physiology |
169 |
| Abnormal lymphocyte physiology |
169 |
| Abnormality of B cell physiology |
169 |
| Skeletal dysplasia |
152 |
| Abnormality of the nervous system |
100 |
| Abnormal nervous system physiology |
96 |
| Neurodevelopmental abnormality |
82 |
| Abnormal respiratory system physiology |
60 |
| Abnormality of the respiratory system |
60 |
| Abnormality of the endocrine system |
49 |
| 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 face |
6 |
| Generalized abnormality of skin |
6 |
| Prematurely aged appearance |
6 |
| Abnormal renal physiology |
5 |
| Abnormal retinal morphology |
5 |
| Abnormality of movement |
5 |
| Abnormality of the digestive system |
5 |
| Abnormality of the kidney |
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 |
| Involuntary movements |
5 |
| Myoclonus |
5 |
| Renal insufficiency |
5 |
| Abnormal aortic valve physiology |
4 |
| Abnormal circulating vitamin B12 concentration |
4 |
| Abnormal hair morphology |
4 |
| Abnormal hair quantity |
4 |
| Abnormal liver metabolite concentration |
4 |
| Abnormal liver morphology |
4 |
| Abnormal nervous system morphology |
4 |
| Abnormal skin adnexa morphology |
4 |
| Abnormal skull morphology |
4 |
| Abnormal tissue metabolite concentration |
4 |
| Abnormality of skin adnexa physiology |
4 |
| Abnormality of the abdominal organs |
4 |
| Abnormality of the liver |
4 |
| Abnormality of vitamin B12 metabolism |
4 |
| Cognitive impairment |
4 |
| Global developmental delay |
4 |
| Hepatic steatosis |
4 |
| Hyperhidrosis |
4 |
| Lipid accumulation in hepatocytes |
4 |
| Morphological central nervous system abnormality |
4 |
| Narrow chest |
4 |
| Sparse hair |
4 |
| Storage in hepatocytes |
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 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 forehead 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 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 |