Source: CLINVAR

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C4721532 Lymphoma, Non-Hodgkin, Familial disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 15 33
C4551602 Noonan Syndrome 1 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome genetic disease; syndrome 11 73
C4551517 Flared nostrils abnormality phenotype Finding Abnormality of head or neck 1 1
C4282407 Sparse and thin eyebrow phenotype Finding Abnormality of the integument; Abnormality of head or neck 8 8
C4281993 Neonatal respiratory distress phenotype Respiratory Tract Diseases Finding Abnormality of the respiratory system 31 34
C4225426 THYROID CANCER, NONMEDULLARY, 2 disease Neoplastic Process disease of anatomical entity; disease of cellular proliferation 6 12
C4073184 Thick hair phenotype Finding Abnormality of the integument 3 3
C4073145 Hyperkeratosis pilaris disease Disease or Syndrome Abnormality of the integument 3 3
C4022855 Abnormal involuntary eye movements disease Anatomical Abnormality Abnormality of the eye 2 2
C3714756 Intellectual Disability group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction disease of mental health Abnormality of the nervous system 6 6
C3150971 LEOPARD SYNDROME 3 disease Disease or Syndrome genetic disease 1 5
C3150970 NOONAN SYNDROME 7 disease Disease or Syndrome genetic disease; syndrome 1 8
C3150613 Long toe phenotype Finding Abnormality of limbs; Abnormality of the skeletal system 8 8
C2674727 ASTROCYTOMA, LOW-GRADE, SOMATIC disease Finding 1 1
C2243051 Large head (disorder) phenotype Finding Abnormality of head or neck; Abnormality of the skeletal system 64 116
C2237142 Moderate global developmental delay phenotype Finding Abnormality of the nervous system 12 21
C1956257 Pulmonary Stenosis disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 19 38
C1861862 Familial Hypertrophic Cardiomyopathy Type 4 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 3 96
C1858091 Long fingers phenotype Finding Abnormality of limbs; Abnormality of the skeletal system 7 6
C1857534 Postnatal onset growth deficiency phenotype Finding 1 1
C1857486 Low-set, posteriorly rotated ears phenotype Finding Abnormality of the ear 17 19
C1854114 Short nose phenotype Finding Abnormality of head or neck 20 23
C1849667 Wide nasal base phenotype Finding Abnormality of head or neck 3 3
C1848760 Increased anterioposterior diameter of thorax phenotype Finding Abnormality of the skeletal system 1 1
C1847874 PHACE association disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 1 1