Source: MGD

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C0687154 Acrocephalopolysyndactyly disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome genetic disease; disease of anatomical entity; syndrome 2
C1275078 Acrocephalopolysyndactyly type 2 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome disease of anatomical entity 1
C1510455 Acrocephalosyndactylia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality genetic disease; disease of anatomical entity 1
C0221036 Acrodermatitis enteropathica disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome genetic disease; disease of metabolism 1
C2930970 Acromesomelic dysplasia Hunter-Thompson type disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality genetic disease; disease of anatomical entity 1
C1864356 ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE disease Musculoskeletal Diseases Disease or Syndrome genetic disease; disease of anatomical entity 1
C3711389 Actin-Accumulation Myopathy disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome genetic disease; disease of anatomical entity 1
C0001308 Acute and subacute liver necrosis (disorder) disease Digestive System Diseases Disease or Syndrome disease of anatomical entity 1
C0162565 Acute intermittent porphyria disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome genetic disease; disease of metabolism 1
C0023449 Acute lymphocytic leukemia disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the immune system; Neoplasm; Abnormality of blood and blood-forming tissues 5
C0268120 Adenine phosphoribosyltransferase deficiency disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome genetic disease; disease of metabolism 1
C0032580 Adenomatous Polyposis Coli disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms Neoplastic Process genetic disease 1
C0268124 Adenosine deaminase deficiency disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases Disease or Syndrome disease of anatomical entity 1
C0001621 Adrenal Gland Diseases group Endocrine System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the endocrine system 1
C0342388 Adrenocorticotropic hormone (ACTH) deficiency (disorder) disease Endocrine System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the nervous system; Abnormality of the endocrine system 1
C0701163 Adrenogenital disorder disease Endocrine System Diseases Disease or Syndrome genetic disease; disease of metabolism 2
C0162309 Adrenoleukodystrophy disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome genetic disease; disease of anatomical entity 1
C1332201 Adult Diffuse Large B-Cell Lymphoma disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 2
C0341703 Adult Fanconi syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome disease of anatomical entity Abnormality of the genitourinary system 1
C0278878 Adult Glioblastoma disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 1
C0268413 Adult hypophosphatasia (disorder) disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome genetic disease 1
C0268374 Adult junctional epidermolysis bullosa (disorder) disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome genetic disease; disease of anatomical entity 4
C1332219 Adult Kidney Wilms Tumor disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 1
C0022797 Adult Neuronal Ceroid Lipofuscinosis disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome genetic disease; disease of metabolism 10
C3164344 Adult onset autosomal dominant leukodystrophy disease Disease or Syndrome genetic disease; disease of anatomical entity 1