Source: CURATED

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C1389016 ATRIOVENTRICULAR CANAL DEFECT disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Anatomical Abnormality disease of anatomical entity Abnormality of the cardiovascular system 3 1
C0812437 Oculo-dento-digital syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality syndrome 4 17
C1389018 Atrioventricular Septal Defect disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality disease of anatomical entity Abnormality of the cardiovascular system 3 7
C0265292 Schwartz-Lelek syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 2 0
C0432330 Erythrokeratoderma disease Skin and Connective Tissue Diseases Congenital Abnormality 2 0
C0020538 Hypertensive disease group Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 190 233
C3711374 Nonsyndromic Deafness disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 81 13
C0019284 Diaphragmatic Hernia phenotype Pathological Conditions, Signs and Symptoms Disease or Syndrome disease of anatomical entity 41 0
C0003811 Cardiac Arrhythmia phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome Abnormality of the cardiovascular system 25 24
C4551675 Keratoderma, Palmoplantar disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome disease of anatomical entity Abnormality of the integument 16 3
C0265961 Erythrokeratodermia variabilis disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome genetic disease; disease of anatomical entity 7 1
C0152101 Hypoplastic Left Heart Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 5 7
C0010051 Coronary Aneurysm disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 3 10
C4551486 ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome genetic disease; disease of anatomical entity 2 5
C0018522 Hallermann's Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome syndrome 1 1
C1861366 SYNDACTYLY, TYPE III disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome disease of anatomical entity 1 1
C1863093 Alopecia congenita keratosis palmoplantaris disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome genetic disease; syndrome 1 0
C2749477 Oculodentodigital Dysplasia, Autosomal Recessive disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome syndrome 1 6
C2931244 Craniometaphyseal dysplasia, autosomal recessive type disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome genetic disease; disease of anatomical entity 1 1
C2931577 Basaran Yilmaz syndrome disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 1 0
C3151468 PALMOPLANTAR KERATODERMA AND CONGENITAL ALOPECIA 1 disease Disease or Syndrome genetic disease; syndrome 1 1
C3275750 ATRIOVENTRICULAR SEPTAL DEFECT 3 disease Disease or Syndrome disease of anatomical entity 1 2
C4479619 ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 3 disease Disease or Syndrome genetic disease; disease of anatomical entity 1 2
C4551854 HYPOPLASTIC LEFT HEART SYNDROME 1 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 1 12
C0023893 Liver Cirrhosis, Experimental disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Experimental Model of Disease 774 0