Source: ORPHANET

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C0406585 Lethal tight skin contracture syndrome (disorder) disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome genetic disease; disease of anatomical entity 2
C0410190 Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder) disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome genetic disease; disease of anatomical entity 4
C0432291 Mandibuloacral dysostosis disease Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 1
C0796031 Malouf syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases; Cardiovascular Diseases Disease or Syndrome 1
C0796083 Najjar syndrome disease Cardiovascular Diseases Disease or Syndrome 1
C1450051 Autosomal Recessive Emery-Dreifuss Muscular Dystrophy disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 1
C1720859 Familial Partial Lipodystrophy, Type 1 disease Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome disease of anatomical entity 1
C1720860 Familial Partial Lipodystrophy, Type 2 disease Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome genetic disease; disease of anatomical entity 1
C1832931 ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 2 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome genetic disease; disease of anatomical entity 4
C1857829 Heart-hand syndrome, Slovenian type disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome 1
C1960469 Left ventricular noncompaction disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 14
C2750035 Emery-Dreifuss Muscular Dystrophy 3 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome genetic disease; disease of anatomical entity 1
C2750785 MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED (disorder) disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome genetic disease; disease of anatomical entity 1
C4275075 Atypical Werner syndrome disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 1
C4750858 LMNA-related cardiocutaneous progeria syndrome disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Disease or Syndrome 1