ZFIN Human Disease: inclusion body myopathy and brain white matter abnormalities

OBO ID: DOID:0081121

Term Name:	inclusion body myopathy and brain white matter abnormalities		Search Ontology:
Synonyms:	multisystem proteinopathy 6
Definition:	An inclusion body myopathy with Paget disease of bone and frontotemporal dementia that is characterized by proximal limb girdle muscle weakness affecting the lower and upper limbs and resulting in gait difficulties and scapular winging and that has_material_basis_in heterozygous mutation in the ANXA11 gene on chromosome 10q22. https://pubmed.ncbi.nlm.nih.gov/34048612/
References:	OMIM:619733
Ontology:	Human Disease ( DOID:0081121 )

Relationships

is a type of:	autosomal dominant disease inclusion body myopathy with Paget disease of bone and frontotemporal dementia autosomal dominant disease inclusion body myopathy with Paget disease of bone and frontotemporal dementia Show first 5 Terms

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Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
ANXA11	anxa11a anxa11b	Inclusion body myopathy and brain white matter abnormalities	619733

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None