Fibromatosis, gingival, 1

Preferred Label : Fibromatosis, gingival, 1;

Symbol : GINGF1;

CISMeF acronym : GGF1; GINGF; GINGF1; HGF;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : GINGF; Fibromatosis, gingival, hereditary; HGF; GGF1;

Description : Gingival fibromatosis is a rare overgrowth condition characterized by a benign, slowly progressive, nonhemorrhagic, fibrous enlargement of maxillary and mandibular keratinized gingiva (summary by Hart et al., 2002). - Genetic Heterogeneity of Hereditary Gingival Fibromatosis Other loci for gingival fibromatosis have been mapped to chromosome 5q (GINGF2; 605544), chromosome 2p23.3-p22.3 (GINGF3; 609955), and chromosome 11p15 (GINGF4; 611010). There is some evidence for a locus on chromosome 2p16-p13 (see MAPPING).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the SOS Ras/Rac guanine nucleotide exchange factor 1 gene (SOS1, 182530.0001);

Prefixed ID : #135300;

Details

Origin ID

135300;

UMLS CUI

C4551558;

Automatic exact mappings (from CISMeF team)
- Gingival fibromatosis [HPO term]
- HGF Gene [NCIt concept]
- Hepatocyte Growth Factor [NCIt concept]
- Hepatocyte Growth Factor Measurement [NCIt concept]
- Interleukin 6 [LOINC component]
- Interleukin-6 [FMA entity]
- Interleukin-6 [NCIt concept]
- Interleukin-6 (substance) [SNOMED CT concept]
- SOS Ras/Rac guanine nucleotide exchange factor 1 [ORDO Gene]
- SOS1 wt Allele [NCIt concept]
- gingival fibromatosis [DO Concept]
- hepatocyte growth factor [MeSH Descriptor]
- hepatocyte growth factor [ORDO Gene]
- interleukin 6 [ORDO Gene]
- interleukin-6 [SNOMED Notion]
Broader ORDO disease(s)
- Hereditary gingival fibromatosis [ORDO Disease]
Currated CISMeF NLP mapping
- Fibromatosis, Gingival, Hereditary [MeSH concept]
DO Cross reference
- gingival fibromatosis [DO Concept]
Genes related to phenotype
- Sos ras/rac guanine nucleotide exchange factor 1 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Gingival fibromatosis [HPO term]
- Hearing impairment [HPO term]
- Intellectual disability [HPO term]
ORDO concept(s)
- Hereditary gingival fibromatosis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Fibromatosis, Gingival, Hereditary [MeSH concept]
- Fibromatosis, Gingival, Hereditary [MeSH Supplementary Concept]
- Hereditary gingival fibromatosis [ORDO Disease]
- Hereditary gingival fibromatosis (disorder) [SNOMED CT concept]
- gingival fibromatosis [DO Concept]
Validated automatic mappings to NTBT
- Fibromatosis, Gingival, Hereditary [MeSH Supplementary Concept]
- Hereditary gingival fibromatosis [ORDO Disease]
- Hereditary gingival fibromatosis (disorder) [SNOMED CT concept]

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