Source: CTD_human

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C4747769 LYMPHATIC MALFORMATION 4 disease Disease or Syndrome genetic disease; disease of anatomical entity 1
C4747743 IMMUNODEFICIENCY 15B disease Disease or Syndrome 1
C4747737 RETINITIS PIGMENTOSA 82 WITH OR WITHOUT SITUS INVERSUS disease Disease or Syndrome genetic disease; disease of anatomical entity 1
C4747646 LYMPHATIC MALFORMATION 3 disease Disease or Syndrome genetic disease; disease of anatomical entity 1
C4746986 ALPORT SYNDROME 1, X-LINKED disease Disease or Syndrome genetic disease 1
C4746851 PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1 disease Disease or Syndrome 1
C4722330 Generalized Thyroid Hormone Resistance disease Endocrine System Diseases Disease or Syndrome genetic disease; disease of anatomical entity Abnormality of the endocrine system 2
C4722327 PROSTATE CANCER, HEREDITARY, 1 disease Neoplasms; Male Urogenital Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 60
C4722227 Hypoprothrombinemias disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome genetic disease 1
C4721952 Familial Idiopathic Pulmonary Fibrosis disease Respiratory Tract Diseases Disease or Syndrome disease of anatomical entity 19
C4721916 HMSN Type V disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome genetic disease; disease of anatomical entity 4
C4721845 Marfan Syndrome, Type I disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 9
C4721814 Adenylosuccinate lyase deficiency type 2 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Mental Disorders Disease or Syndrome 1
C4721813 Adenylosuccinate lyase deficiency type 3 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Mental Disorders Disease or Syndrome 1
C4721812 Adenylosuccinate lyase deficiency type 4 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Mental Disorders Disease or Syndrome 1
C4721811 Adenylosuccinate lyase deficiency type 1 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Mental Disorders Disease or Syndrome 1
C4721806 Carcinoma, Basal Cell disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the integument; Neoplasm 28
C4721769 Citrullinemia Type 1 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome genetic disease; disease of metabolism 1
C4721610 Carcinoma, Ovarian Epithelial disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the genitourinary system; Neoplasm 27
C4721532 Lymphoma, Non-Hodgkin, Familial disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 21
C4721509 Usual Interstitial Pneumonia disease Respiratory Tract Diseases Disease or Syndrome disease of anatomical entity Abnormality of the respiratory system 19
C4721508 Hamman-Rich Disease disease Respiratory Tract Diseases Disease or Syndrome disease of anatomical entity 19
C4721507 Alveolitis, Fibrosing disease Respiratory Tract Diseases Disease or Syndrome 83
C4721502 Peripheral dysostosis disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 2
C4721453 Peripheral Nervous System Diseases group Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the nervous system 53