Glomuvenous malformations

Preferred Label : Glomuvenous malformations;

Symbol : GVM;

CISMeF acronym : GVM; VMGLOM;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : VMGLOM; Glomangiomas, multiple; Glomus tumors, multiple; Venous malformations with glomus cells;

Inheritance : Autosomal dominant;

Prefixed ID : #138000;

Détails

Origin ID

138000;

UMLS CUI

C1841984;

Automatic exact mappings (from CISMeF team)
- GLMN wt Allele [NCIt concept]
- Glomangiomyoma [NCIt concept]
- Glomuvenous Malformation [NCIt concept]
- glomulin, FKBP associated protein [ORDO Gene]
- glomulin, FKBP associated protein [HGNC gene]
- glomus vagale tumors [MeSH concept]
- glomus vagale tumors [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Glomuvenous malformation [ICD-11 More detail]
- Glomuvenous malformation [ORDO Disease]
- Glomuvenous malformation (disorder) [SNOMED CT concept]
Genes related to phenotype
- Glomulin [OMIM gene]
HPO term(s)
- Abnormality of metabolism/homeostasis [HPO term]
- Abnormality of the skin [HPO term]
- Autosomal dominant inheritance [HPO term]
ORDO concept(s)
- Glomuvenous malformation [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Glomuvenous malformation [ORDO Disease]
- Glomuvenous malformation (disorder) [SNOMED CT concept]
- glomus vagale tumors [MeSH Supplementary Concept]
- glomus vagale tumors [MeSH concept]

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