Source: ORPHANET

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C0265293 Frontometaphyseal dysplasia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 2
C0021847 Intestinal Pseudo-Obstruction disease Digestive System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the digestive system 2
C0268341 Ehlers-Danlos syndrome type 5 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome 1
C0025237 Melnick-Needles Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 1
C1855733 Neuronal intestinal pseudoobstruction disease Digestive System Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity 1
C1846129 Terminal Osseous Dysplasia and Pigmentary Defects disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 1