Source: CLINVAR

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C1827524 Wide spaced nipples phenotype Finding Abnormality of the breast 19 19
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
C0019322 Umbilical hernia phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome disease of anatomical entity; physical disorder Abnormality of the digestive system; Abnormality of connective tissue 17 17
C1865017 Thin upper lip vermilion phenotype Finding Abnormality of head or neck 18 25
C4282407 Sparse and thin eyebrow phenotype Finding Abnormality of the integument; Abnormality of head or neck 8 8
C0349588 Short stature phenotype Finding Growth abnormality 190 292
C0423112 Short palpebral fissure phenotype Finding Abnormality of head or neck 15 16
C1854114 Short nose phenotype Finding Abnormality of head or neck 20 23
C0521525 Short neck phenotype Finding Abnormality of head or neck; Abnormality of the skeletal system 26 29
C1956257 Pulmonary Stenosis disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 19 38
C0238397 Pulmonary artery stenosis disease Cardiovascular Diseases Anatomical Abnormality Abnormality of the respiratory system; Abnormality of the cardiovascular system 2 2
C4024165 Prominent ear helix phenotype Finding Abnormality of the ear 3 3
C0032914 Pre-Eclampsia phenotype Female Urogenital Diseases and Pregnancy Complications Pathologic Function disease of anatomical entity Abnormality of prenatal development or birth 7 8
C0020224 Polyhydramnios phenotype Female Urogenital Diseases and Pregnancy Complications Pathologic Function disease of anatomical entity Abnormality of prenatal development or birth 25 28
C0020534 Orbital separation excessive phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding Abnormality of the eye 63 77
C1853120 Noonan Syndrome 4 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome genetic disease; syndrome 1 8
C1860991 NOONAN SYNDROME 3 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome genetic disease; syndrome 6 32
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
C0028326 Noonan Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome genetic disease; disease of anatomical entity; syndrome; disease of mental health 12 153
C0027960 Nevus disease Neoplasms Neoplastic Process Abnormality of the integument 4 7
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
C1849367 Nasal bridge wide phenotype Finding Abnormality of head or neck 26 29
C1839758 Narrow forehead phenotype Finding Abnormality of head or neck 19 20
C1328931 Multiple lentigines disease Disease or Syndrome Abnormality of the integument 2 9
C0000772 Multiple congenital anomalies group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 237 350