ZFIN Human Disease: congenital muscular dystrophy 1B

OBO ID: DOID:0110634

Term Name:	congenital muscular dystrophy 1B		Search Ontology:
Synonyms:	congenital muscular dystrophy type 1B MDC1B
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
References:	ICD10CM:G71.2 OMIM:604801 ORDO:98893
Ontology:	Human Disease ( DOID:0110634 )

Relationships

is a type of:	autosomal recessive disease congenital muscular dystrophy autosomal recessive disease congenital muscular dystrophy Show first 5 Terms

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Alliance (1)

GENES INVOLVED No data available

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None