Source: CLINVAR

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C4225266 IMMUNODEFICIENCY 42 disease Disease or Syndrome 0 3
C0033805 Pseudohypoaldosteronism disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome genetic disease; disease of anatomical entity Abnormality of the endocrine system 0 2
C0221215 Common atrioventricular canal disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality disease of anatomical entity Abnormality of the cardiovascular system 0 2
C1833590 ATRIOVENTRICULAR SEPTAL DEFECT, SOMATIC disease Finding 0 2
C1835828 Invasive Pneumococcal Disease, Recurrent Isolated, 1 disease Infections; Immune System Diseases Disease or Syndrome 0 2
C1839841 SPERMATOGENIC FAILURE, X-LINKED, 2 disease Disease or Syndrome genetic disease; disease of anatomical entity 0 2
C1842371 DEAFNESS, AUTOSOMAL DOMINANT 41 (disorder) disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome genetic disease; disease of anatomical entity 0 2
C1850126 Osteopetrosis, mild autosomal recessive form disease Musculoskeletal Diseases Disease or Syndrome genetic disease; disease of anatomical entity 0 2
C1866040 DIABETES MELLITUS, INSULIN-DEPENDENT, 10 disease Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases Disease or Syndrome disease of metabolism 0 2
C2673630 HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 5 (disorder) disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome genetic disease; disease of anatomical entity 0 2
C2674081 Skin/Hair/Eye Pigmentation, Variation In, 7 phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Finding 0 2
C2748918 Otopalatodigital Spectrum Disorder disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 0 2
C2751666 BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 2 disease Respiratory Tract Diseases Disease or Syndrome genetic disease; disease of anatomical entity 0 2
C3151444 DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 4 disease Disease or Syndrome genetic disease; disease of anatomical entity 0 2
C4017331 ANGIOFIBROMA, SOMATIC disease Finding 0 2
C4085248 OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO phenotype Finding 0 2
C4281559 FRONTOMETAPHYSEAL DYSPLASIA 1 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 0 2
C4479588 IMMUNODEFICIENCY 52 disease Disease or Syndrome 0 2
C0021670 insulinoma disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the digestive system; Abnormality of the nervous system; Abnormality of the endocrine system; Neoplasm 0 1
C0085570 Hypokalemic alkalosis disease Nutritional and Metabolic Diseases Disease or Syndrome Abnormality of metabolism/homeostasis 0 1
C0151468 Thyroid Gland Follicular Adenoma disease Neoplasms; Endocrine System Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the endocrine system; Neoplasm 0 1
C0151942 Arterial thrombosis phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Pathologic Function Abnormality of blood and blood-forming tissues 0 1
C0152419 Interrupted aortic arch disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality disease of anatomical entity Abnormality of the cardiovascular system 0 1
C0265319 Fibrous skin tumor of tuberous sclerosis disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Neoplastic Process Abnormality of the integument; Neoplasm; Abnormality of head or neck 0 1
C0339985 Idiopathic bronchiectasis disease Respiratory Tract Diseases Disease or Syndrome disease of anatomical entity 0 1