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Echinobase
Summary Literature (0)
DOID:0050588 - muscular dystrophy-dystroglycanopathy type B1


Disease Ontology Definition:A congenital muscular dystrophy characterized by muscle weakness, cognitive impairment and brain abnormalities and has_material_basis_in mutation to the POMT1 gene that encodes O-mannosyltransferase.

Synonyms: CMD due to dystroglycanopathy, Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B1,

Echinobase Genes : b3galnt2, b4gat1, crppa, gmppb, rxylt1, pomgnt2


OMIM:
MIM:614643 - muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 7; mddga7
MIM:614830 - muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8; mddga8
MIM:615041 - muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10; mddga10
MIM:615181 - muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11; mddga11
MIM:615249 - muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12; mddga12
MIM:615287 - muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13; mddga13
MIM:615350 - muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14; mddga14
MIM:615351 - muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14; mddgb14

Other Model Organisms: AGR, 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)