Source: CLINVAR

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0557874 Global developmental delay disease Mental or Behavioral Dysfunction Abnormality of the nervous system 303 505
C1386048 Intrauterine retardation phenotype Pathologic Function Growth abnormality 41 56
C0221357 Brachydactyly disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality Abnormality of limbs; Abnormality of the skeletal system 30 39
C0423224 Sunken eyes phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding Abnormality of the eye 28 54
C0020224 Polyhydramnios phenotype Female Urogenital Diseases and Pregnancy Complications Pathologic Function disease of anatomical entity Abnormality of prenatal development or birth 25 28
C3806604 Infantile axial hypotonia phenotype Finding Abnormality of the musculature 7 8
C1860816 Preauricular skin tag phenotype Finding Abnormality of the integument; Abnormality of head or neck 3 4
C4021535 Infantile sensorineural hearing impairment phenotype Finding Abnormality of the ear 3 4
C4310689 SHORT STATURE, BRACHYDACTYLY, INTELLECTUAL DEVELOPMENTAL DISABILITY, AND SEIZURES disease Disease or Syndrome 1 8