FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term congenital muscular dystrophy due to integrin alpha-7 deficiency ID (Ontology) DOID:0110639 (Human Disease)
Definition A congenital muscular dystrophy characterized by autosomal recessive inheritance that has_material_basis_in compound heterozygous mutation in the ITGA7 gene on chromosome 12q13.
Also Known As "congenital muscular dystrophy with integrin alpha-7 deficiency" ; "congenital muscular dystrophy with ITGA7 deficiency" ; "congenital myopathy due to integrin alpha-7 deficiency"
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 Genes
 congenital muscular dystrophy due to integrin alpha-7 deficiency       1
 for disease ribbon | congenital muscular dystrophy due to integrin alpha-7 deficiency       1
 model of | congenital muscular dystrophy due to integrin alpha-7 deficiency       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease____
physical disorder                  |
 |__congenital muscular dystrophy__|
muscular dystrophy                 |
 |__congenital muscular dystrophy__|
                                   congenital muscular dystrophy due to integrin alpha-7 deficiency  1 rec.
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Is a congenital muscular dystrophy
autosomal recessive disease
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Synonyms
  • "congenital muscular dystrophy with integrin alpha-7 deficiency" EXACT
    "congenital muscular dystrophy with ITGA7 deficiency" EXACT
    "congenital myopathy due to integrin alpha-7 deficiency" EXACT
Secondary IDs
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ICD10CM:G71.2
MIM:613204
ORDO:34520