Experimental Factor Ontology

Last uploaded: July 4, 2024
Preferred Name

myofibromatosis, infantile, 1

Synonyms

fibromatosis, congenital generalised

myofibromatosis, juvenile

fibromatosis, congenital generalized

IMF1

myofibromatosis, infantile, type 1

myofibromatosis, infantile, 1

myofibromatosis caused by mutation in PDGFRB

PDGFRB myofibromatosis

Definitions

Any myofibromatosis in which the cause of the disease is a mutation in the PDGFRB gene.

ID

http://purl.obolibrary.org/obo/MONDO_0009227

database_cross_reference

OMIM:228550

MESH:C562978

SCTID:254146000

ICD9:756.9

definition

Any myofibromatosis in which the cause of the disease is a mutation in the PDGFRB gene.

exactMatch

https://omim.org/entry/228550

http://identifiers.org/snomedct/254146000

http://identifiers.org/mesh/C562978

has_exact_synonym

myofibromatosis, infantile, type 1

myofibromatosis, infantile, 1

myofibromatosis caused by mutation in PDGFRB

PDGFRB myofibromatosis

has_related_synonym

fibromatosis, congenital generalised

myofibromatosis, juvenile

fibromatosis, congenital generalized

IMF1

id

MONDO:0009227

in_subset

http://purl.obolibrary.org/obo/mondo/mondo-base#rare

http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare

http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare

label

myofibromatosis, infantile, 1

notation

MONDO:0009227

preferred label

myofibromatosis, infantile, 1

prefLabel

myofibromatosis, infantile, 1

subClassOf

http://purl.obolibrary.org/obo/MONDO_0016824

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