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Metadata
ID DOID:0110634
Name congenital muscular dystrophy 1B
Definition A congenital muscular dystrophy characterized by autosomal recessive inheritance of proximal muscle weakness, muscle hypertrophy, and early respiratory failure that has_material_basis_in variation in the chromosome region 1q42.
https://www.ncbi.nlm.nih.gov/pubmed/10677302
Xrefs

ICD10CM:G71.2

OMIM:604801

ORDO:98893

Synonyms

CMD1B [EXACT]

congenital muscular dystrophy type 1B [EXACT]

MDC1B [EXACT]

Parent Relationships

is_a autosomal recessive disease

is_a congenital muscular dystrophy

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