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DO Term : inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 3 [DOID:0111386] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

An inclusion body myopathy with Paget disease of bone and frontotemporal dementia that has_material_basis_in heterozygous mutation in the HNRNPA1 gene on chromosome 12q13.13.

synonyms:
IBMPFD3,
MSP3,
OMIM:615424,
615424,
multisystem proteinopathy 3

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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