Source: CURATED

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0035372 Rett Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome disease of mental health 5 339
C1846058 Lubs X-linked mental retardation syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Mental or Behavioral Dysfunction genetic disease; disease of mental health 2 8
C1968556 ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 1 43
C1968550 Mental Retardation, X-Linked, Syndromic 13 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome genetic disease; disease of mental health 1 27
C1845336 AUTISM, X-LINKED, SUSCEPTIBILITY TO, 3 (finding) disease Finding 0 8
C2677682 Rett Syndrome, Zappella Variant disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome disease of mental health 0 2