Infantile Myofibromatosis 1

Preferred Label : Infantile Myofibromatosis 1;

NCIt synonyms : IMF1;

NCIt definition : A rare inherited form of myofibromatosis caused by autosomal dominant mutation(s) in the PDGFRB gene, encoding platelet-derived growth factor receptor beta. The condition is characterized by the onset of solitary or multicentric benign tumors in the skin, striated muscles, bones, and viscera. The lesions may be present at birth or become apparent in early infancy or even occasionally in adult life.;

Neoplastic status : Benign;

Détails

Origin ID

C176943;

UMLS CUI

C4551572;

Currated CISMeF NLP mapping
- Myofibromatosis, infantile, 1 [OMIM Phenotype]
Disease excludes abnormal cell
- Malignant Cell [NCIt concept]
Disease excludes normal cell origin
- Neuron, Neuroepithelial Cell, and Supporting Cell of the Nervous System [NCIt concept]
Disease may have findings
- Hyalinized Stroma Formation [NCIt concept]
- Necrotic Change [NCIt concept]
Has associated anatomic sites
- Connective and Soft Tissue [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Myofibromatosis, infantile, 1 [OMIM Phenotype]
disease_excludes_finding
- Malignant Cellular Infiltrate [NCIt concept]
disease_has_abnormal_cell
- Neoplastic Cell [NCIt concept]
- Neoplastic Connective and Soft Tissue Cell [NCIt concept]
- Neoplastic Spindle Cell [NCIt concept]
disease_has_finding
- Benign Cellular Infiltrate [NCIt concept]
- Biphasic Pattern [NCIt concept]
- Indolent Clinical Course [NCIt concept]
- Multifocal Lesion [NCIt concept]
- Perivascular Arrangement of Tumor Cells [NCIt concept]
disease_has_molecular_abnormality
- PDGFRB Gene Mutation [NCIt concept]
disease_has_normal_cell_origin
- Connective and Soft Tissue Cell [NCIt concept]
- Pericyte [NCIt concept]
disease_has_normal_tissue_origin
- Soft Tissue [NCIt concept]
disease_has_primary_anatomic_site
- Connective and Soft Tissue [NCIt concept]
- Soft Tissue [NCIt concept]
disease_mapped_to_gene
- PDGFRB Gene [NCIt concept]
pathogenesis_of_disease_involves_gene
- PDGFRB Gene [NCIt concept]
- PDGFRB wt Allele [NCIt concept]
related_to_genetic_biomarker
- PDGFRB Gene [NCIt concept]

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