Source: CLINVAR

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C4022735 Cerebral white matter atrophy disease Pathological Conditions, Signs and Symptoms Anatomical Abnormality Abnormality of the nervous system 10 11
C4025701 Abnormality of the cerebral cortex disease Anatomical Abnormality Abnormality of the nervous system 6 8
C4025724 Abnormality of the cerebral ventricles disease Anatomical Abnormality Abnormality of the nervous system 4 5
C4020847 Abnormality of pelvic girdle bone morphology disease Anatomical Abnormality Abnormality of the skeletal system 3 5
C4021739 Abnormality of the acetabulum disease Anatomical Abnormality Abnormality of limbs; Abnormality of the skeletal system 3 5
C4022765 Abnormality of the subarachnoid space phenotype Anatomical Abnormality Abnormality of the nervous system 3 4
C4020870 Abnormality of the hip joint disease Anatomical Abnormality Abnormality of limbs; Abnormality of the skeletal system 1 2
C4025165 Cutaneous syndactyly between fingers 2 and 5 phenotype Anatomical Abnormality Abnormality of limbs; Abnormality of the skeletal system 1 2
C4024270 Distally placed thumb phenotype Anatomical Abnormality Abnormality of limbs; Abnormality of the skeletal system 1 2
C0344482 Hypoplasia of corpus callosum disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality Abnormality of the nervous system 43 49
C0431447 Synophrys disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality Abnormality of the integument; Abnormality of head or neck 19 23
C0221352 Syndactyly of fingers disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases Congenital Abnormality Abnormality of limbs; Abnormality of the skeletal system 8 10
C0036439 Scoliosis, unspecified disease Musculoskeletal Diseases Disease or Syndrome disease of anatomical entity Abnormality of the skeletal system 63 92
C0028738 Nystagmus disease Eye Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 62 83
C0042798 Low Vision disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome Abnormality of the eye 32 41
C0406740 Kohlschutter Tonz syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases Disease or Syndrome 1 11
C0349588 Short stature phenotype Finding Growth abnormality 190 292
C4551563 Microcephaly (physical finding) phenotype Finding Abnormality of the nervous system; Abnormality of head or neck; Abnormality of the skeletal system 160 246
C0333068 Flexion contracture disease Musculoskeletal Diseases Finding Abnormality of the skeletal system; Abnormality of connective tissue; Abnormality of the musculature 26 32
C0575802 Small hand phenotype Finding Abnormality of limbs; Abnormality of the skeletal system 24 31
C1861324 Short philtrum phenotype Finding Abnormality of head or neck 24 25
C1844806 Weight less than 3rd percentile phenotype Finding Growth abnormality 22 27
C1845847 Coarse facial features phenotype Pathological Conditions, Signs and Symptoms Finding Abnormality of head or neck 20 33
C1848673 Hypoplastic feet phenotype Finding Abnormality of limbs; Abnormality of the skeletal system 15 21
C1842366 Low anterior hairline phenotype Finding Abnormality of the integument; Abnormality of head or neck 13 17