ZFIN Human Disease: muscular dystrophy-dystroglycanopathy type B1

OBO ID: DOID:0050588

Term Name:	muscular dystrophy-dystroglycanopathy type B1		Search Ontology:
Synonyms:	CMD due to dystroglycanopathy Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B1
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. https://www.omim.org/entry/613155
References:	OMIM:613155
Ontology:	Human Disease ( DOID:0050588 )

Relationships

is a type of:	autosomal recessive disease muscular dystrophy-dystroglycanopathy type B autosomal recessive disease muscular dystrophy-dystroglycanopathy type B Show first 5 Terms

OTHER muscular dystrophy-dystroglycanopathy type B1 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
POMT1	pomt1	Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 1	613155

ZEBRAFISH MODELS

Fish	Conditions	Citations
AB + MO2-inpp5ka	standard conditions	Osborn et al., 2017
AB + MO3-fkrp	standard conditions	Bailey et al., 2019
WT + MO1-dag1	standard conditions	Goody et al., 2012

PHENOTYPE No data available

CITATIONS (3)