Hereditary Glomuvenous Malformation

Preferred Label : Hereditary Glomuvenous Malformation;

NCIt synonyms : Familial Glomangioma; Familial Glomuvenous Malformation; Hereditary Glomangioma;

NCIt definition : Glomuvenous malformation inherited in an autosomal dominant pattern and caused by mutations in the GLMN gene encoding glomulin.;

Neoplastic status : Benign;

Details

Origin ID

C5350;

UMLS CUI

C1333987;

Automatic exact mappings (from CISMeF team)
- familial glomangioma [DO Concept]
DO Cross reference
- familial glomangioma [DO Concept]
Disease excludes normal cell origin
- Neuron, Neuroepithelial Cell, and Supporting Cell of the Nervous System [NCIt concept]
Disease may have findings
- Pain [NCIt concept]
Has associated anatomic sites
- Connective and Soft Tissue [NCIt concept]
Semantic type(s)
- Neoplastic Process [UMLS semantic type]
UMLS correspondences (same concept)
- familial glomangioma [DO Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_abnormal_cell
- Glomus Cell [NCIt concept]
- Neoplastic Cell [NCIt concept]
- Neoplastic Connective and Soft Tissue Cell [NCIt concept]
disease_has_finding
- Dilated Vascular Space Formation [NCIt concept]
- Hereditary Lesion [NCIt concept]
- Perivascular Arrangement of Tumor Cells [NCIt concept]
disease_has_molecular_abnormality
- GLMN Gene Mutation [NCIt concept]
disease_has_normal_cell_origin
- Connective and Soft Tissue Cell [NCIt concept]
- Pericyte [NCIt concept]
disease_has_normal_tissue_origin
- Connective and Soft Tissue [NCIt concept]
disease_mapped_to_gene
- GLMN Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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