Source: ORPHANET

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C2931850 Aase Smith syndrome 2 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome disease of anatomical entity 12
C1260899 Anemia, Diamond-Blackfan disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome disease of anatomical entity Abnormality of blood and blood-forming tissues 12
C3887654 POLYARTERITIS NODOSA, CHILDHOOD-ONSET disease Skin and Connective Tissue Diseases; Cardiovascular Diseases Disease or Syndrome 1
C0282492 Sneddon Syndrome disease Skin and Connective Tissue Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 1