Source: CLINVAR

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0026827 Muscle hypotonia phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of the musculature 336 579
C0018817 Atrial Septal Defects group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality genetic disease; disease of anatomical entity Abnormality of the cardiovascular system 37 43
C0018818 Ventricular Septal Defects group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality disease of anatomical entity Abnormality of the cardiovascular system 31 34
C0521525 Short neck phenotype Finding Abnormality of head or neck; Abnormality of the skeletal system 26 29
C0020224 Polyhydramnios phenotype Female Urogenital Diseases and Pregnancy Complications Pathologic Function disease of anatomical entity Abnormality of prenatal development or birth 25 28
C1827524 Wide spaced nipples phenotype Finding Abnormality of the breast 19 19
C0019572 Hirsutism phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Finding disease of anatomical entity Abnormality of the integument 12 13
C0221217 Neck webbing disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality Abnormality of head or neck 11 19
C0003466 Anus, Imperforate disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality disease of anatomical entity; physical disorder Abnormality of the digestive system 9 8
C1846460 Abnormality of the outer ear disease Anatomical Abnormality Abnormality of the ear 8 8
C0266589 Congenital ear anomaly NOS (disorder) group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Otorhinolaryngologic Diseases Congenital Abnormality Abnormality of the ear 5 5
C1838705 Anteriorly placed anus phenotype Finding Abnormality of the digestive system 5 5
C1857479 Short columella phenotype Finding Abnormality of head or neck 4 5
C1866207 Dysplastic aortic valve phenotype Finding Abnormality of the cardiovascular system 2 2
C4225378 SHORT-RIB THORACIC DYSPLASIA 13 WITH OR WITHOUT POLYDACTYLY disease Disease or Syndrome genetic disease 1 2
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 1 1