About: congenital merosin-deficient muscular dystrophy 1A

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About: congenital merosin-deficient muscular dystrophy 1A Goto Sponge NotDistinct Permalink

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

Attributes	Values
type	Class
subClassOf	congenital muscular dystrophy autosomal recessive disease nodeID://b50943341 nodeID://b50943342 nodeID://b50943343
label	congenital merosin-deficient muscular dystrophy 1A
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0110636
database_cross_reference	MESH:C537384 NCI:C118783 OMIM:607855 ORDO:258 SNOMEDCT_US_2021_09_01:787037000 UMLS_CUI:C1263858
has_exact_synonym	CMD1A (en) MDC1A (en) Merosin-negative congenital muscular dystrophy (en) congenital muscular dystrophy due to laminin alpha2 deficiency (en)
has_obo_namespace	disease_ontology
in_subset	NCIthesaurus
http://purl.obolib...g/obo/IAO_0000115	A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscle weakness that is apparent at birth or in the first 6 months of life and frequent development of periventricular white matter abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the LAMA2 gene on chromosome 6q22.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50943344

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