FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term distal myopathy with anterior tibial onset ID (Ontology) DOID:0111187 (Human Disease)
Definition A distal myopathy that is 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 mutation in the gene encoding dysferlin (DYSF) on chromosome 2p13.
Also Known As "distal muscular dystrophy with anterior tibial onset" ; "DMAT"
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 Genes
 distal myopathy with anterior tibial onset       1
 for disease ribbon | distal myopathy with anterior tibial onset       1
 model of | distal myopathy with anterior tibial onset       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease__
muscular dystrophy               |
 |__distal myopathy______________|
                                 distal myopathy with anterior tibial onset  1 rec.
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Is a autosomal recessive disease
distal myopathy
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Synonyms
  • "distal muscular dystrophy with anterior tibial onset" EXACT
    "DMAT" EXACT OMO:0003012
Secondary IDs
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MIM:606768
ORDO:178400