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
C0557874 Global developmental delay disease Mental or Behavioral Dysfunction Abnormality of the nervous system 303 505
C0349588 Short stature phenotype Finding Growth abnormality 190 292
C4551563 Microcephaly (physical finding) phenotype Finding Abnormality of the nervous system; Abnormality of head or neck; Abnormality of the skeletal system 160 246
C0027092 Myopia disease Eye Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 45 52
C0009806 Constipation phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom disease of anatomical entity Abnormality of the digestive system 40 49
C0005745 Blepharoptosis disease Eye Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 37 49
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
C1850049 Clinodactyly of the 5th finger disease Congenital Abnormality Abnormality of limbs; Abnormality of the skeletal system 37 39
C2673410 Small midface phenotype Finding Abnormality of head or neck 23 24
C1837404 High, narrow palate phenotype Finding Abnormality of head or neck 19 21
C0221263 Cafe-au-Lait Spots phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Finding Abnormality of the integument 18 32
C0079924 Oligohydramnios phenotype Female Urogenital Diseases and Pregnancy Complications Pathologic Function disease of anatomical entity Abnormality of prenatal development or birth 17 21
C0423112 Short palpebral fissure phenotype Finding Abnormality of head or neck 15 16
C4551570 2-3 toe syndactyly disease Congenital Abnormality Abnormality of limbs; Abnormality of the skeletal system 14 16
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
C0235752 Port-Wine Stain disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality disease of anatomical entity Abnormality of the integument 8 8
C1837731 Overfolded helix phenotype Finding Abnormality of the ear 7 7
C1862102 BRACHYDACTYLY, TYPE E1 phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding disease of anatomical entity Abnormality of limbs; Abnormality of the skeletal system 2 3
C0345354 Radial polydactyly disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality Abnormality of limbs; Abnormality of the skeletal system 2 2
C1855222 Delayed proximal femoral epiphyseal ossification phenotype Finding Abnormality of limbs; Abnormality of the skeletal system 1 1
C1849020 Short metatarsal phenotype Finding Abnormality of limbs; Abnormality of the skeletal system 1 1
C4284093 FANCONI ANEMIA, COMPLEMENTATION GROUP R disease Disease or Syndrome genetic disease; disease of anatomical entity 1 1