Infantile Myofibromatosis 2

Preferred Label : Infantile Myofibromatosis 2;

NCIt synonyms : IMF2;

NCIt definition : A rare inherited form of myofibromatosis caused by autosomal dominant mutation(s) in the NOTCH3 gene, encoding neurogenic locus notch homolog protein 3. The condition is characterized by the onset of solitary or multicentric benign tumors in the skin, striated muscles, bones, and viscera. Soft tissue lesions may regress spontaneously whereas visceral lesions are associated with high morbidity and mortality.;

Neoplastic status : Benign;

Détails

Origin ID

C176944;

UMLS CUI

C3809084;

Currated CISMeF NLP mapping
- Myofibromatosis, infantile, 2 [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, 2 [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
- NOTCH3 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
- NOTCH3 Gene [NCIt concept]
pathogenesis_of_disease_involves_gene
- NOTCH3 Gene [NCIt concept]
- NOTCH3 wt Allele [NCIt concept]
related_to_genetic_biomarker
- NOTCH3 Gene [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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