inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3
Go to external page http://purl.obolibrary.org/obo/MONDO_0014179
Any inclusion body myopathy with Paget disease of bone and frontotemporal dementia in which the cause of the disease is a mutation in the HNRNPA1 gene. [ MONDO:patterns/disease_series_by_gene ]
Synonyms: HNRNPA1 inclusion body myopathy with Paget disease of bone and frontotemporal dementia inclusion body myopathy with Paget disease of bone and frontotemporal dementia caused by mutation in HNRNPA1 inclusion body myopathy with early-onset paget disease without frontotemporal dementia 3 inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia type 3 inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3
Term information
- MEDGEN:815799 (MONDO:equivalentTo)
- DOID:0111386 (MONDO:equivalentTo)
- GARD:15963 (MONDO:GARD)
- UMLS:C3809469 (MONDO:equivalentTo)
- OMIM:615424 (MONDO:equivalentTo)
gard_rare, rare
https://omim.org/entry/615424
http://identifiers.org/medgen/815799
http://purl.obolibrary.org/obo/DOID_0111386
http://linkedlifedata.com/resource/umls/id/C3809469