muscular dystrophy-dystroglycanopathy type B5

Summary

DOID:0110635 - muscular dystrophy-dystroglycanopathy type B5

Disease Ontology Definition:A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with variable penetrance of intellectual disability and structural brain abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the FKRP gene on chromosome 19q13.3.

Synonyms: congenital muscular dystrophy 1C, FKRP-related congenital muscular dystrophy, MDC1C, MDDGB5, muscular dystrophy-dystroglycanopathy (congenital with or without impaired intellectual development), type B, 5, muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5, muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: fkrp

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0011688 - muscular dystrophy-dystroglycanopathy type B5

MONDO:0011688 - muscular dystrophy-dystroglycanopathy type B5

MIM:

MIM:606612 - MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 5; MDDGB5

MIM:606612 - MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 5; MDDGB5

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive disease (is_a), congenital muscular dystrophy (is_a), muscular dystrophy-dystroglycanopathy type B (is_a)