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