Trichomegaly - CISMeF

Preferred Label : Trichomegaly;

Symbol : TCMGLY;

CISMeF acronym : TCMGLY;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Eyelashes, long;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the fibroblast growth factor 5 gene (FGF5, 165190.0001);

Prefixed ID : #190330;

Détails

Origin ID

190330;

UMLS CUI

C0854699;

Automatic exact mappings (from CISMeF team)
- FGF5 wt Allele [NCIt concept]
- Trichomegaly-cataract-hereditary spherocytosis syndrome [ORDO Disease]
- eyelashes [MeSH Descriptor]
- eyelashes [MeSH concept]
- familial isolated trichomegaly [DO Concept]
Currated CISMeF NLP mapping
- Long eyelashes [HPO term]
- Trichomegaly [PASCAL descriptor]
- Trichomegaly [MedDRA Preferred Term]
- trichomegaly [Disease (Nov.)]
DO Cross reference
- familial isolated trichomegaly [DO Concept]
Genes related to phenotype
- Fibroblast growth factor 5 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Cataract [HPO term]
- Long eyelashes [HPO term]
ORDO concept(s)
- Familial isolated trichomegaly [ORDO Disease]
- Trichomegaly-cataract-hereditary spherocytosis syndrome [ORDO Disease]
Semantic type(s)
- Finding [UMLS semantic type]
UMLS correspondences (same concept)
- Trichomegaly [MedDRA Preferred Term]
- Trichomegaly [PASCAL descriptor]
- trichomegaly [Disease (Nov.)]

Position du mot-clé dans l'(les) arborescence(s) :

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