Disease association ontology term - MONDO:0000171 - muscular dystrophy-dystroglycanopathy, type A
Term summary
ID
MONDO:0000171
Name
muscular dystrophy-dystroglycanopathy, type A
Ontology or CV name
Disease association
Parents
excluded_subClassOf
qualitative or quantitative defects of FKRP
excluded_subClassOf
qualitative or quantitative defects of protein O-mannosyltransferase 1
excluded_subClassOf
qualitative or quantitative defects of protein O-mannosyltransferase 2
excluded_subClassOf
cobblestone lissencephaly
excluded_subClassOf
congenital vitreoretinal dysplasia
excluded_subClassOf
myopathy caused by variation in FKRP
excluded_subClassOf
myopathy caused by variation in POMGNT1
is_a
muscular dystrophy-dystroglycanopathy
Annotation
Disease association
MONDO:0000171
-
muscular dystrophy-dystroglycanopathy, type A
References:
PB_REF:0000003
Genes:
ogm1 (SPAC22A12.07c)
ogm2 (SPAPB1E7.09)
ogm4 (SPBC16C6.09)
MONDO:0009364
-
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
References:
PB_REF:0000006
Genes:
ogm4 (SPBC16C6.09)
MONDO:0014140
-
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
References:
PB_REF:0000006
Genes:
mpg1 (SPCC1906.01)
MONDO:0013154
-
muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
References:
PB_REF:0000006
Genes:
ogm1 (SPAC22A12.07c)
ogm2 (SPAPB1E7.09)