Source: CLINVAR

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C1858091 Long fingers phenotype Finding Abnormality of limbs; Abnormality of the skeletal system 7 6
C1832446 Sparse eyebrow phenotype Finding Abnormality of the integument; Abnormality of head or neck 6 6
C4225426 THYROID CANCER, NONMEDULLARY, 2 disease Neoplastic Process disease of anatomical entity; disease of cellular proliferation 6 12
C0558165 Curly hair (finding) phenotype Finding Abnormality of the integument 4 7
C1843300 Sparse eyelashes phenotype Finding Abnormality of the integument; Abnormality of head or neck 4 4
C1832160 Abnormality of temperature regulation phenotype Finding Abnormality of metabolism/homeostasis 3 3
C1849667 Wide nasal base phenotype Finding Abnormality of head or neck 3 3
C4073145 Hyperkeratosis pilaris disease Disease or Syndrome Abnormality of the integument 3 3
C4073184 Thick hair phenotype Finding Abnormality of the integument 3 3
C0574974 Finger joint hypermobility phenotype Finding Abnormality of limbs; Abnormality of the skeletal system 2 2
C1837732 Thickened helices phenotype Finding Abnormality of the ear 2 3
C4022855 Abnormal involuntary eye movements disease Anatomical Abnormality Abnormality of the eye 2 2
C1843005 Absent eyelashes phenotype Congenital Abnormality Abnormality of the integument; Abnormality of head or neck 1 1
C1848760 Increased anterioposterior diameter of thorax phenotype Finding Abnormality of the skeletal system 1 1
C1857534 Postnatal onset growth deficiency phenotype Finding 1 1
C2674727 ASTROCYTOMA, LOW-GRADE, SOMATIC disease Finding 1 1
C3150970 NOONAN SYNDROME 7 disease Disease or Syndrome genetic disease; syndrome 1 8
C3150971 LEOPARD SYNDROME 3 disease Disease or Syndrome genetic disease 1 5
C4551517 Flared nostrils abnormality phenotype Finding Abnormality of head or neck 1 1
C0007194 Hypertrophic Cardiomyopathy disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 29 468
C1956257 Pulmonary Stenosis disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 19 38
C0000772 Multiple congenital anomalies group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 237 350
C0004045 Asphyxia Neonatorum disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome disease of anatomical entity Abnormality of the respiratory system 4 4
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
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