Short tarsus with absence of lower eyelashes

Preferred Label : Short tarsus with absence of lower eyelashes;

Symbol : STALE;

CISMeF acronym : STALE;

Type : Other, mainly phenotypes with suspected mendelian basis;

Inheritance : Autosomal dominant;

Prefixed ID : 600269;

Details

Origin ID

600269;

UMLS CUI

C1838328;

Currated CISMeF NLP mapping
- Lopes Gorlin syndrome [MeSH concept]
- Short tarsus-absence of lower eyelashes syndrome [ORDO Disease]
- lopes gorlin syndrome [MeSH Supplementary Concept]
HPO term(s)
- Absent lower eyelashes [HPO term]
- Autosomal dominant inheritance [HPO term]
- Hypoplasia of the lower eyelids [HPO term]
ORDO concept(s)
- Short tarsus-absence of lower eyelashes syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Lopes Gorlin syndrome [MeSH concept]
- Short tarsus with absence of lower eyelashes syndrome (disorder) [SNOMED CT concept]
- Short tarsus-absence of lower eyelashes syndrome [ORDO Disease]
- lopes gorlin syndrome [MeSH Supplementary Concept]

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