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DO Term : autosomal recessive limb-girdle muscular dystrophy type 2Z [DOID:0080762] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  An autosomal recessive limb-girdle muscular dystrophy that is characterized by young-adult onset of slowly progressive proximal upper and lower limb muscle weakness and atrophy and that has_material_basis_in homozygous mutation in the POGLUT1 gene on chromosome 3q13.
  • synonyms:
  • limb-girdle muscular dystrophy 21,
  • 617232,
  • OMIM:617232,
  • ORDO:480682
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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