Preferred Label : Hypertelorism;
Type : Phenotype or locus, molecular basis unknown;
Description : Although hypertelorism means an excessive distance between any paired organs (e.g.,
the nipples), the use of the word has come to be confined to ocular hypertelorism.
Hypertelorism occurs as an isolated feature and is also a feature of many syndromes,
e.g., Opitz G syndrome (145410), Greig cephalopolysyndactyly (175700), and Noonan
syndrome (163950) (summary by Cohen et al., 1995).;
Inheritance : Autosomal dominant;
Prefixed ID : %145400;
Origin ID : 145400;
UMLS CUI : C0020534;
Currated CISMeF NLP mapping
- Semantic type(s)
- UMLS correspondences (same concept)
