Epiblepharon of lower lid

Preferred Label : Epiblepharon of lower lid;

Type : Other, mainly phenotypes with suspected mendelian basis;

Description : Epicanthus (131500) and epiblepharon of the upper eyelid and of the lower eyelid are frequent normal variations in the Chinese. Hu (1983) found the frequency among Chinese students to be, respectively, 38.1, 37.8, and 10.0%. In 254 pairs of twins, he found a monozygotic concordance rates of close to 100%. In dizygotic twins, the concordance rates were close to those expected of an autosomal dominant trait. Thus, all 3 traits are probably autosomal dominant. *FIELD* RF 1. Hu, D.-N.: Ophthalmic genetics in China. Ophthalmic Paediat. Genet. 2: 39-45, 1983. *FIELD* CS Autosomal dominant;

Inheritance : Autosomal dominant;

Prefixed ID : 131450;

Details

Origin ID

131450;

UMLS CUI

C1851583;

Automatic exact mappings (from CISMeF team)
- Epiblepharon of lower lid [HPO term]
Currated CISMeF NLP mapping
- epiblepharon of lower lid [MeSH concept]
- epiblepharon of upper lid [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Epiblepharon of lower lid [HPO term]
- epiblepharon of lower lid [MeSH concept]

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