Myofibromatosis, infantile, 2

Preferred Label : Myofibromatosis, infantile, 2;

Symbol : IMF2;

CISMeF acronym : IMF2;

Type : Phenotype, molecular basis known;

Description : Infantile myofibromatosis is a disorder of mesenchymal proliferation characterized by the development of benign tumors in the skin, muscle, bone, and viscera. Soft tissue lesions may regress spontaneously. Visceral lesions are associated with high morbidity and mortality (summary by Martignetti et al., 2013). For discussion of genetic heterogeneity of infantile myofibromatosis, see IMF1 (228550).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the homolog of the Drosophila NOTCH, 3, gene (NOTCH3, 600276.0012);

Prefixed ID : #615293;

Details

Origin ID

615293;

UMLS CUI

C3809084;

Automatic exact mappings (from CISMeF team)
- NOTCH3 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Infantile Myofibromatosis 2 [NCIt concept]
DO Cross reference
- infantile myofibromatosis [DO Concept]
Genes related to phenotype
- Notch receptor 3 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Myofibromatosis [HPO term]
ORDO concept(s)
- Infantile myofibromatosis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Infantile Myofibromatosis 2 [NCIt concept]

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