Source: CLINVAR

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C1849075 Relative macrocephaly disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality Abnormality of head or neck; Abnormality of the skeletal system 17 19
C0024433 Macrostomia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality Abnormality of head or neck 10 11
C3489726 Geleophysic dysplasia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 2 6
C0265290 Metaphyseal chondrodysplasia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality Abnormality of limbs; Abnormality of the skeletal system 1 1
C0349588 Short stature phenotype Finding Growth abnormality 190 292
C1849367 Nasal bridge wide phenotype Finding Abnormality of head or neck 26 29