Source: ORPHANET

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C0020608 Hypodontia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality disease of anatomical entity Abnormality of head or neck 12
C4082304 Oligodontia disease Congenital Abnormality disease of anatomical entity Abnormality of head or neck 12
C0406702 Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality genetic disease; syndrome 3
C1275074 Odonto-onycho-dermal dysplasia disease Congenital Abnormality 1
C0796093 Odontoonychodermal dysplasia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Stomatognathic Diseases Disease or Syndrome 1
C1857069 SCHOPF-SCHULZ-PASSARGE SYNDROME (disorder) disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Eye Diseases; Skin and Connective Tissue Diseases; Stomatognathic Diseases Disease or Syndrome 1