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About: distal muscular dystrophy with anterior tibial onset     Goto   Sponge   Distinct   Permalink

An Entity of Type : owl:Class, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

AttributesValues
type
subClassOf
label
  • distal muscular dystrophy with anterior tibial onset
described by
id
  • DOID:0111187
database_cross_reference
  • OMIM:606768
  • ORDO:178400
has_exact_synonym
  • DMAT (en)
has_obo_namespace
  • disease_ontology
http://purl.obolib...g/obo/IAO_0000115
  • A distal muscular dystrophy characterized by onset at 14-28 years of age starting first in the anterior tibial muscles and involving both upper and lower proximal muscles that has_material_basis_in homozygous or compound heterozygous mutation in DYSF on 2p13.
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is annotatedSource of
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