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limb-girdle muscular dystrophy due to POMK deficiency
Disease Summary
Associated Targets (1)
Tbio
1
Mondo Description Limb-girdle muscular dystrophy due to POMK deficiency is a form of limb-girdle muscular dystrophy presenting in infancy with muscle weakness and delayed motor development (eventually learning to walk at 18 months of age) followed by progressive proximal weakness, pseudohypertrophy of calf muscles, mild facial weakness, and borderline intelligence.
Uniprot Description An autosomal recessive limb-girdle congenital muscular dystrophy, characterized by muscle weakness and delayed motor development in association with cognitive impairment.
Mondo Term and Equivalent IDs
MONDO:0014489: limb-girdle muscular dystrophy due to POMK deficiency
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Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
OMIM:616094
Orphanet:445110
UMLS:C4015184
MONDO:0014489
High level summary of knowledge for a disease, including descriptions and datasource references.