Source: ORPHANET

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C0035334 Retinitis Pigmentosa disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 95
C0340427 Familial dilated cardiomyopathy disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 42
C0022521 Kartagener Syndrome disease Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases; Respiratory Tract Diseases Disease or Syndrome genetic disease 38
C4317124 Polynesian Bronchiectasis disease Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases; Respiratory Tract Diseases Disease or Syndrome genetic disease 38
C0002736 Amyotrophic Lateral Sclerosis disease Nervous System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome disease of anatomical entity Abnormality of the nervous system 36
C2931498 Mental Retardation, X-Linked 1 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome disease of mental health 31
C0238463 Papillary thyroid carcinoma disease Endocrine System Diseases; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the endocrine system; Neoplasm 28
C0162809 Kallmann Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome disease of anatomical entity 26
C2936907 NADH:Q(1) Oxidoreductase deficiency disease Nutritional and Metabolic Diseases Disease or Syndrome disease of metabolism 25
C1961099 Precursor T-Cell Lymphoblastic Leukemia-Lymphoma disease Hemic and Lymphatic Diseases; Immune System Diseases; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of blood and blood-forming tissues; Abnormality of the immune system; Neoplasm 24
C0752166 Bardet-Biedl Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome genetic disease 22
C0006413 Burkitt Lymphoma disease Hemic and Lymphatic Diseases; Immune System Diseases; Neoplasms; Virus Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of blood and blood-forming tissues; Neoplasm 22
C1843687 ATRIAL FIBRILLATION, FAMILIAL, 1 (disorder) disease Cardiovascular Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome disease of anatomical entity 21
C1142166 Brugada Syndrome (disorder) disease Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome disease of anatomical entity 21
C0015625 Fanconi Anemia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Nutritional and Metabolic Diseases Disease or Syndrome disease of anatomical entity 21
C1292769 Precursor B-cell lymphoblastic leukemia disease Neoplastic Process disease of anatomical entity; disease of cellular proliferation 21
C3711387 Autosomal Recessive Primary Microcephaly disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 20
C0339527 Leber Congenital Amaurosis disease Eye Diseases Disease or Syndrome disease of anatomical entity 20
C2931850 Aase Smith syndrome 2 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome disease of anatomical entity 19
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 19
C0431399 Familial aplasia of the vermis disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome genetic disease Abnormality of the nervous system 19
C0392557 Nuclear cataract disease Disease or Syndrome Abnormality of the eye 18
C1112705 Nuclear non-senile cataract disease Disease or Syndrome 18
C0266539 Congenital total cataract disease Congenital Abnormality 15
C0431362 Lobar Holoprosencephaly disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality physical disorder Abnormality of the nervous system 15