Source: ORPHANET

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C0265215 Meckel-Gruber syndrome disease Disease or Syndrome 15
C0339535 Night blindness, congenital stationary disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality Abnormality of the eye 15
C0035828 Romano-Ward Syndrome disease Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and Symptoms Disease or Syndrome disease of anatomical entity 15
C0751617 Semilobar Holoprosencephaly disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality physical disorder Abnormality of the nervous system 15
C0431363 Alobar Holoprosencephaly disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality physical disorder Abnormality of the nervous system 14
C0004943 Behcet Syndrome disease Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Stomatognathic Diseases Disease or Syndrome disease of anatomical entity 14
C0085786 Hamman-Rich syndrome disease Respiratory Tract Diseases Disease or Syndrome disease of anatomical entity 14
C0677776 Hereditary Breast and Ovarian Cancer Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases; Female Urogenital Diseases and Pregnancy Complications; Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation; genetic disease 14
C1800706 Idiopathic Pulmonary Fibrosis disease Respiratory Tract Diseases Disease or Syndrome disease of anatomical entity 14
C1960469 Left ventricular noncompaction disease Disease or Syndrome Abnormality of the cardiovascular system 14
C0162671 MELAS Syndrome disease Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome disease of anatomical entity 14
C0265221 Walker-Warburg congenital muscular dystrophy disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity 14
C0282525 Adrenoleukodystrophy, Neonatal disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome disease of metabolism 13
C0282527 Infantile Refsum Disease (disorder) disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome disease of metabolism 13
C0342276 Maturity onset diabetes mellitus in young disease Endocrine System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome genetic disease Abnormality of metabolism/homeostasis; Abnormality of the endocrine system 13
C0028326 Noonan Syndrome disease Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Skin and Connective Tissue Diseases Disease or Syndrome disease of anatomical entity; genetic disease; syndrome 13
C0043459 Zellweger Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome disease of metabolism 13
C0751883 Congenital Myasthenic Syndromes, Postsynaptic disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome disease of anatomical entity 12
C2314896 Familial Atypical Mole Melanoma Syndrome disease Neoplastic Process 12
C0334588 Giant Cell Glioblastoma disease Neoplasms Neoplastic Process disease of cellular proliferation 12
C0206726 gliosarcoma disease Neoplasms Neoplastic Process disease of cellular proliferation 12
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 Abnormality of head or neck 12
C2931456 Prostate cancer, familial disease Male Urogenital Diseases; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 12
C0037769 West Syndrome disease Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the nervous system 12