Source: ORPHANET

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C0340427 Familial dilated cardiomyopathy disease Cardiovascular Diseases Disease or Syndrome genetic disease; disease of anatomical entity 44
C0022521 Kartagener Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases; Cardiovascular Diseases Disease or Syndrome genetic disease; syndrome 33
C4317124 Polynesian Bronchiectasis disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases; Cardiovascular Diseases Disease or Syndrome genetic disease; syndrome 33
C4551720 Primary Ciliary Dyskinesia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Disease or Syndrome genetic disease; syndrome 33
C4551906 Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases; Cardiovascular Diseases Disease or Syndrome genetic disease; syndrome 33
C2931498 Mental Retardation, X-Linked 1 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome genetic disease; disease of mental health 32
C1868672 NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome genetic disease; disease of anatomical entity 29
C3489532 Cone-Rod Dystrophy 2 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome genetic disease; disease of anatomical entity 29
C1838979 MITOCHONDRIAL COMPLEX I DEFICIENCY disease Nutritional and Metabolic Diseases Disease or Syndrome genetic disease; disease of metabolism 28
C0162809 Kallmann Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome genetic disease; disease of anatomical entity 26
C1843687 ATRIAL FIBRILLATION, FAMILIAL, 1 (disorder) disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 22
C3711387 Autosomal Recessive Primary Microcephaly disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome genetic disease; disease of anatomical entity; physical disorder 22
C0339527 Leber Congenital Amaurosis disease Eye Diseases Disease or Syndrome disease of anatomical entity 21
C1292769 Precursor B-cell lymphoblastic leukemia disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 21
C4551568 Joubert syndrome 1 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases Disease or Syndrome genetic disease; disease of anatomical entity; syndrome 20
C1112705 Nuclear non-senile cataract disease Eye Diseases Disease or Syndrome 18
C0035828 Romano-Ward Syndrome disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 16
C0266539 Congenital total cataract disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality genetic disease; disease of anatomical entity 16
C0028326 Noonan Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome genetic disease; disease of anatomical entity; syndrome; disease of mental health 15
C0265215 Meckel-Gruber syndrome disease Pathological Conditions, Signs and Symptoms Disease or Syndrome genetic disease; syndrome 15
C0004943 Behcet Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Stomatognathic Diseases; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 14
C0085786 Hamman-Rich syndrome disease Pathological Conditions, Signs and Symptoms; Infections; Respiratory Tract 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 genetic disease; disease of anatomical entity 14
C0393706 Early infantile epileptic encephalopathy with suppression bursts disease Nervous System Diseases Disease or Syndrome disease of anatomical entity 14
C0677776 Hereditary Breast and Ovarian Cancer Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Endocrine System Diseases Neoplastic Process genetic disease; syndrome 14