Fibromatosis, gingival, 5

Preferred Label : Fibromatosis, gingival, 5;

Symbol : GINGF5;

CISMeF acronym : GGF5; GINGF5; HGF5;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Fibromatosis, gingival, hereditary, 5; GGF5; HGF5;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the RE1-silencing transcription factor gene (REST, 600571.0004);

Prefixed ID : #617626;

Details

Origin ID

617626;

UMLS CUI

C4539942;

Automatic exact mappings (from CISMeF team)
- gingival fibromatosis 5 [DO Concept]
DO Cross reference
- gingival fibromatosis 5 [DO Concept]
Genes related to phenotype
- Re1-silencing transcription factor [OMIM gene]
HPO term(s)
- Abnormal sternum morphology [HPO term]
- Autosomal dominant inheritance [HPO term]
- Gingival fibromatosis [HPO term]
ORDO concept(s)
- Hereditary gingival fibromatosis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
Validated automatic mappings to NTBT
- Hereditary gingival fibromatosis [ORDO Disease]

Keyword's position in hierarchy(ies) :

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