MONDO:0013157

Disease Name: muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
OMIM id: OMIM:613153
Orphanet id: Orphanet:899
All associated enzymes in DAR: FKRP

MONDO:0011787

Disease Name: autosomal recessive limb-girdle muscular dystrophy type 2I
OMIM id: OMIM:607155
Orphanet id: Orphanet:34515
All associated enzymes in DAR: FKRP

MONDO:0018279

Disease Name: congenital muscular dystrophy without intellectual disability
OMIM id: OMIM:613152
Orphanet id: Orphanet:370980
All associated enzymes in DAR: CRPPA POMT1 FKRP

MONDO:0009364

Disease Name: muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
OMIM id: OMIM:236670
Orphanet id: Orphanet:899
All associated enzymes in DAR: POMT1 FKRP FKTN

MONDO:0018277

Disease Name: congenital muscular dystrophy with cerebellar involvement
OMIM id: OMIM:615351
Orphanet id: Orphanet:370959
All associated enzymes in DAR: POMT1 POMT2 FKRP POMK GMPPB

MONDO:0009678

Disease Name: muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
OMIM id: OMIM:253800
Orphanet id: Orphanet:899
All associated enzymes in DAR: FKRP FKTN

MONDO:0011688

Disease Name: muscular dystrophy-dystroglycanopathy type B5
OMIM id: OMIM:606612
Orphanet id: Orphanet:52428
All associated enzymes in DAR: FKRP

MONDO:0018278

Disease Name: congenital muscular dystrophy with intellectual disability
OMIM id: OMIM:615351
Orphanet id: Orphanet:370968
All associated enzymes in DAR: POMT1 POMT2 FKRP GMPPB LARGE1