Source: CLINVAR

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C2676243 Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Endocrine System Diseases; Stomatognathic Diseases Disease or Syndrome genetic disease; disease of anatomical entity 2 14