Source: CLINVAR

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0557874 Global developmental delay disease Mental or Behavioral Dysfunction Abnormality of the nervous system 303 505
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
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
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
C1836543 Thick vermilion border phenotype Finding Abnormality of head or neck 12 15
C1843108 Short palm phenotype Finding Abnormality of limbs; Abnormality of the skeletal system 11 13
C1849340 Long palpebral fissure phenotype Finding Abnormality of head or neck 9 10
C1853487 Thick eyebrow phenotype Finding Abnormality of the integument; Abnormality of head or neck 9 13
C4022761 Reduced brain N-acetyl aspartate level by MRS phenotype Finding Abnormality of the nervous system 8 8
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
C4022764 Abnormal metabolic brain imaging by MRS phenotype Finding Abnormality of the nervous system 1 2
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
C0406740 Kohlschutter Tonz syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases Disease or Syndrome 1 11
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