Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:muscular dystrophy-dystroglycanopathy
go back to main search page
Accession:DOID:0050588 term browser browse the term
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. (DO)
Synonyms:exact_synonym: CMD due to dystroglycanopathy
 primary_id: RDO:9004293
 xref: OMIM:PS613155;   ORDO:370953
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
muscular dystrophy-dystroglycanopathy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B4gat1 beta-1,4-glucuronyltransferase 1 ISS OMIM:613150 | OMIM:613151 | OMIM:613152 | OMIM:613153 | OMIM:613154 | OMIM:613155 | OMIM:613156 | OMIM:614643 | OMIM:614830 | OMIM:615041 | OMIM:615181 | OMIM:615249 | OMIM:615287 | OMIM:615350 | OMIM:615351 | OMIM:616052 | OMIM:616094 MouseDO NCBI chr 1:220,322,854...220,325,076
Ensembl chr 1:220,416,018...220,418,240
JBrowse link
G Crppa CDP-L-ribitol pyrophosphorylase A ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy ClinVar PMID:2522420, PMID:22522420, PMID:25741868, PMID:28492532 NCBI chr 6:55,880,136...56,159,466
Ensembl chr 6:55,881,387...56,159,464
JBrowse link
G Fkrp fukutin related protein ISS
ISO
OMIM:613150 | OMIM:613151 | OMIM:613152 | OMIM:613153 | OMIM:613154 | OMIM:613155 | OMIM:613156 | OMIM:614643 | OMIM:614830 | OMIM:615041 | OMIM:615181 | OMIM:615249 | OMIM:615287 | OMIM:615350 | OMIM:615351 | OMIM:616052 | OMIM:616094
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy
MouseDO
ClinVar
PMID:11741828, PMID:12666124, PMID:12707439, PMID:14647208, PMID:15060126, PMID:15574464, PMID:15580560, PMID:15833432, PMID:15886712, PMID:16634037, PMID:16786213, PMID:17554798, PMID:18060779, PMID:18593008, PMID:18639457, PMID:19820980, PMID:19835634, PMID:19900540, PMID:21220724, PMID:21228398, PMID:22264518, PMID:22981120, PMID:23576288, PMID:23591631, PMID:24033266, PMID:24447024, PMID:25048216, PMID:25560911, PMID:25741868, PMID:26363967, PMID:26467025, PMID:26574668, PMID:26833294, PMID:28492532, PMID:30311386 NCBI chr 1:78,733,461...78,740,803
Ensembl chr 1:78,733,508...78,739,107
JBrowse link
G Fktn fukutin ISS OMIM:613150 | OMIM:613151 | OMIM:613152 | OMIM:613153 | OMIM:613154 | OMIM:613155 | OMIM:613156 | OMIM:614643 | OMIM:614830 | OMIM:615041 | OMIM:615181 | OMIM:615249 | OMIM:615287 | OMIM:615350 | OMIM:615351 | OMIM:616052 | OMIM:616094 MouseDO NCBI chr 5:70,522,001...70,578,270
Ensembl chr 5:70,528,688...70,578,273
JBrowse link
G Gmppb GDP-mannose pyrophosphorylase B ISO
ISS
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy
DNA:mutations: cds:multiple
OMIM:613150 | OMIM:613151 | OMIM:613152 | OMIM:613153 | OMIM:613154 | OMIM:613155 | OMIM:613156 | OMIM:614643 | OMIM:614830 | OMIM:615041 | OMIM:615181 | OMIM:615249 | OMIM:615287 | OMIM:615350 | OMIM:615351 | OMIM:616052 | OMIM:616094
ClinVar
MouseDO
PMID:19901254, PMID:23768512, PMID:25326637, PMID:25681410, PMID:25741868, PMID:25770200, PMID:26133662, PMID:26310427, PMID:27766311, PMID:28492532, PMID:29437916, PMID:30257713, PMID:26310427 RGD:11530903 NCBI chr 8:116,826,251...116,856,159
Ensembl chr 8:116,826,680...116,856,159
JBrowse link
G Large1 LARGE xylosyl- and glucuronyltransferase 1 ISS OMIM:613150 | OMIM:613151 | OMIM:613152 | OMIM:613153 | OMIM:613154 | OMIM:613155 | OMIM:613156 | OMIM:614643 | OMIM:614830 | OMIM:615041 | OMIM:615181 | OMIM:615249 | OMIM:615287 | OMIM:615350 | OMIM:615351 | OMIM:616052 | OMIM:616094 MouseDO NCBI chr19:12,481,563...12,945,320
Ensembl chr19:12,481,540...12,942,963
JBrowse link
G Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) ISS OMIM:613150 | OMIM:613151 | OMIM:613152 | OMIM:613153 | OMIM:613154 | OMIM:613155 | OMIM:613156 | OMIM:614643 | OMIM:614830 | OMIM:615041 | OMIM:615181 | OMIM:615249 | OMIM:615287 | OMIM:615350 | OMIM:615351 | OMIM:616052 | OMIM:616094 MouseDO NCBI chr 5:135,007,343...135,017,220
Ensembl chr 5:135,007,343...135,017,218
JBrowse link
G Pomk protein-O-mannose kinase ISS OMIM:613150 | OMIM:613151 | OMIM:613152 | OMIM:613153 | OMIM:613154 | OMIM:613155 | OMIM:613156 | OMIM:614643 | OMIM:614830 | OMIM:615041 | OMIM:615181 | OMIM:615249 | OMIM:615287 | OMIM:615350 | OMIM:615351 | OMIM:616052 | OMIM:616094 MouseDO NCBI chr16:70,854,825...70,869,653
Ensembl chr16:70,859,280...70,869,634
JBrowse link
G Pomt1 protein-O-mannosyltransferase 1 ISS OMIM:613150 | OMIM:613151 | OMIM:613152 | OMIM:613153 | OMIM:613154 | OMIM:613155 | OMIM:613156 | OMIM:614643 | OMIM:614830 | OMIM:615041 | OMIM:615181 | OMIM:615249 | OMIM:615287 | OMIM:615350 | OMIM:615351 | OMIM:616052 | OMIM:616094 MouseDO NCBI chr 3:11,253,424...11,271,873
Ensembl chr 3:11,254,026...11,271,872
JBrowse link
G Pomt2 protein-O-mannosyltransferase 2 ISS OMIM:613150 | OMIM:613151 | OMIM:613152 | OMIM:613153 | OMIM:613154 | OMIM:613155 | OMIM:613156 | OMIM:614643 | OMIM:614830 | OMIM:615041 | OMIM:615181 | OMIM:615249 | OMIM:615287 | OMIM:615350 | OMIM:615351 | OMIM:616052 | OMIM:616094 MouseDO NCBI chr 6:111,137,329...111,176,991
Ensembl chr 6:111,135,349...111,176,918
JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2P term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amt aminomethyltransferase ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:20234391, PMID:28492532 NCBI chr 8:117,068,388...117,078,633
Ensembl chr 8:117,068,582...117,077,913
JBrowse link
G Ccdc71 coiled-coil domain containing 71 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:20234391, PMID:28492532 NCBI chr 8:117,236,933...117,251,573
Ensembl chr 8:117,246,376...117,250,280
JBrowse link
G Dag1 dystroglycan 1 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9
ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2P
ClinVar Annotator: match by OMIM:613818
OMIM
ClinVar
PMID:14678799, PMID:20234391, PMID:21388311, PMID:24033266, PMID:24052401, PMID:25503980, PMID:25671699, PMID:25741868, PMID:25934851, PMID:26467025, PMID:28492532, PMID:29036200, PMID:29134705, PMID:29337005, PMID:30311386, PMID:31097590 NCBI chr 8:116,980,501...116,993,182
Ensembl chr 8:116,980,497...116,993,193
JBrowse link
G Gpx1 glutathione peroxidase 1 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:20234391, PMID:28492532 NCBI chr 8:117,117,430...117,118,528
Ensembl chr 8:117,117,430...117,118,522
JBrowse link
G Iho1 interactor of HORMAD1 1 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:20234391, PMID:28492532 NCBI chr 8:117,182,484...117,215,390
Ensembl chr 8:117,183,343...117,211,170
JBrowse link
G Klhdc8b kelch domain containing 8B ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:20234391, PMID:28492532 NCBI chr 8:117,232,047...117,236,792
Ensembl chr 8:117,231,769...117,237,229
JBrowse link
G Lamb2 laminin subunit beta 2 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:20234391, PMID:28492532 NCBI chr 8:117,268,335...117,280,517
Ensembl chr 8:117,268,337...117,280,517
JBrowse link
G LOC498675 hypothetical LOC498675 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:20234391, PMID:28492532 NCBI chr 8:117,170,620...117,175,235
Ensembl chr 8:117,170,620...117,175,235
JBrowse link
G LOC680045 hypothetical protein LOC680045 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:20234391, PMID:28492532 NCBI chr 8:117,214,999...117,231,024
Ensembl chr 8:117,221,367...117,231,029
JBrowse link
G Nicn1 nicolin 1 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:20234391, PMID:28492532 NCBI chr 8:117,062,989...117,068,134
Ensembl chr 8:117,062,884...117,068,130
JBrowse link
G Rhoa ras homolog family member A ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:20234391, PMID:28492532 NCBI chr 8:117,082,440...117,116,244
Ensembl chr 8:117,106,576...117,116,167
JBrowse link
G Tcta T-cell leukemia translocation altered ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:20234391, PMID:28492532 NCBI chr 8:117,079,094...117,082,338
Ensembl chr 8:117,079,095...117,082,162
JBrowse link
G Usp4 ubiquitin specific peptidase 4 ISO ClinVar Annotator: match by term: Limb-girdle muscular dystrophy-dystroglycanopathy, type C9 ClinVar PMID:20234391, PMID:28492532 NCBI chr 8:117,126,692...117,171,012
Ensembl chr 8:117,126,692...117,171,012
JBrowse link
congenital muscular dystrophy-dystroglycanopathy A14 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gmppb GDP-mannose pyrophosphorylase B ISO ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A14
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14
ClinVar Annotator: match by term: Congenital Muscular Dystrophy-Dystroglycanopathy with Brain and Eye Anomalies Type A 14
ClinVar Annotator: match by OMIM:615350
OMIM
ClinVar
PMID:19901254, PMID:23768512, PMID:23894383, PMID:24033266, PMID:24780531, PMID:25326637, PMID:25681410, PMID:25741868, PMID:25770200, PMID:26133662, PMID:26310427, PMID:27147698, PMID:27527004, PMID:27766311, PMID:27874200, PMID:28433477, PMID:28478914, PMID:28492532, PMID:28554332, PMID:28914264, PMID:29437916, PMID:30060766, PMID:30257713, PMID:30311386, PMID:30684953, PMID:31211170 NCBI chr 8:116,826,251...116,856,159
Ensembl chr 8:116,826,680...116,856,159
JBrowse link
congenital muscular dystrophy-dystroglycanopathy A7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankmy2 ankyrin repeat and MYND domain containing 2 ISO ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, ISPD-RELATED ClinVar PMID:28492532 NCBI chr 6:55,646,905...55,689,223
Ensembl chr 6:55,648,021...55,689,218
JBrowse link
G Bzw2 basic leucine zipper and W2 domains 2 ISO ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, ISPD-RELATED ClinVar PMID:28492532 NCBI chr 6:55,586,754...55,647,650
Ensembl chr 6:55,586,346...55,647,665
JBrowse link
G Crppa CDP-L-ribitol pyrophosphorylase A ISO ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7
ClinVar Annotator: match by term: ISPD-Related Disorder
ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, ISPD-RELATED
ClinVar Annotator: match by OMIM:614643
OMIM
ClinVar
PMID:2328832, PMID:2522420, PMID:7604843, PMID:9492098, PMID:10738921, PMID:18414213, PMID:22522420, PMID:22522421, PMID:23217329, PMID:23288328, PMID:23390185, PMID:24033266, PMID:24120487, PMID:25326635, PMID:25741868, PMID:26404900, PMID:26467025, PMID:27363342, PMID:28492532, PMID:28688748, PMID:28973083, PMID:29260090, PMID:29382405 NCBI chr 6:55,880,136...56,159,466
Ensembl chr 6:55,881,387...56,159,464
JBrowse link
G Lrrc72 leucine rich repeat containing 72 ISO ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, ISPD-RELATED ClinVar PMID:28492532 NCBI chr 6:55,694,269...55,757,234
Ensembl chr 6:55,694,470...55,711,146
JBrowse link
G Sostdc1 sclerostin domain containing 1 ISO ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, ISPD-RELATED ClinVar PMID:28492532 NCBI chr 6:55,812,820...55,816,994
Ensembl chr 6:55,812,747...55,817,066
JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) ISO ClinVar Annotator: match by term: Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies ClinVar PMID:11709191, PMID:12588800, PMID:15466003, PMID:16427280, PMID:17559086, PMID:17878207, PMID:17881266, PMID:17906881, PMID:19299310, PMID:22323514, PMID:23326386, PMID:25741868, PMID:26013959, PMID:28492532, PMID:30311386 NCBI chr 5:135,007,343...135,017,220
Ensembl chr 5:135,007,343...135,017,218
JBrowse link
G Tspan1 tetraspanin 1 ISO ClinVar Annotator: match by term: Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies ClinVar PMID:11709191, PMID:12588800, PMID:15466003, PMID:16427280, PMID:17559086, PMID:17878207, PMID:17881266, PMID:17906881, PMID:19299310, PMID:22323514, PMID:23326386, PMID:25741868, PMID:26013959, PMID:28492532, PMID:30311386 NCBI chr 5:135,019,206...135,032,412
Ensembl chr 5:135,019,778...135,025,084
JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B4gat1 beta-1,4-glucuronyltransferase 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1 ClinVar PMID:23877401, PMID:25558065 NCBI chr 1:220,322,854...220,325,076
Ensembl chr 1:220,416,018...220,418,240
JBrowse link
G Dag1 dystroglycan 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 ClinVar PMID:25741868 NCBI chr 8:116,980,501...116,993,182
Ensembl chr 8:116,980,497...116,993,193
JBrowse link
G Fkrp fukutin related protein ISO
ISS
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1
ClinVar Annotator: match by term: HARD syndrome
OMIM:236670
ClinVar
MouseDO
PMID:11592034, PMID:11741828, PMID:12471058, PMID:12654965, PMID:12666124, PMID:12707425, PMID:14647208, PMID:14652796, PMID:14742276, PMID:15060126, PMID:15121789, PMID:15574464, PMID:15580560, PMID:15833432, PMID:15886712, PMID:16368217, PMID:16476814, PMID:16634037, PMID:16786213, PMID:17336067, PMID:17554798, PMID:18036232, PMID:18060779, PMID:18414213, PMID:18593008, PMID:18639457, PMID:18671187, PMID:19155270, PMID:19820980, PMID:19835634, PMID:19900540, PMID:19955119, PMID:21220724, PMID:21228398, PMID:21296577, PMID:22264518, PMID:22981120, PMID:23420653, PMID:23576288, PMID:23591631, PMID:23800702, PMID:23894383, PMID:24033266, PMID:24447024, PMID:25048216, PMID:25135358, PMID:25560911, PMID:25741868, PMID:25987458, PMID:26363967, PMID:26467025, PMID:26574668, PMID:26833294, PMID:26923585, PMID:27439679, PMID:27848944, PMID:28454995, PMID:28492532, PMID:28931339, PMID:29065428, PMID:30003095, PMID:30311386, PMID:30564623, PMID:31041397, PMID:31671740 NCBI chr 1:78,733,461...78,740,803
Ensembl chr 1:78,733,508...78,739,107
JBrowse link
G Fktn fukutin ISO
ISS
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1
ClinVar Annotator: match by term: HARD syndrome
OMIM:236670
ClinVar
MouseDO
PMID:10545611, PMID:14627679, PMID:17044012, PMID:17559086, PMID:17878207, PMID:18177472, PMID:18414213, PMID:18752264, PMID:19179078, PMID:19266496, PMID:19299310, PMID:19342235, PMID:19396839, PMID:20961758, PMID:21102627, PMID:21228398, PMID:22037554, PMID:23757202, PMID:24033266, PMID:24144914, PMID:25741868, PMID:25821721, PMID:26130484, PMID:26467025, PMID:26636822, PMID:26923585, PMID:27065010, PMID:28492532, PMID:28785732, PMID:30060766 NCBI chr 5:70,522,001...70,578,270
Ensembl chr 5:70,528,688...70,578,273
JBrowse link
G Large1 LARGE xylosyl- and glucuronyltransferase 1 ISS OMIM:236670 MouseDO NCBI chr19:12,481,563...12,945,320
Ensembl chr19:12,481,540...12,942,963
JBrowse link
G Pomt1 protein-O-mannosyltransferase 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1
ClinVar Annotator: match by term: HARD syndrome
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1
ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMT1-RELATED
ClinVar
OMIM
PMID:11320179, PMID:12369018, PMID:15037715, PMID:15637732, PMID:16575835, PMID:16717220, PMID:17559086, PMID:17869517, PMID:17878207, PMID:18414213, PMID:18513969, PMID:18640039, PMID:18752264, PMID:19222032, PMID:19299310, PMID:20816175, PMID:22323514, PMID:22549409, PMID:23757202, PMID:24304607, PMID:24491487, PMID:25326635, PMID:25741868, PMID:26467025, PMID:28116189, PMID:28492532, PMID:28556411, PMID:30311386, PMID:31319225, PMID:32860008 NCBI chr 3:11,253,424...11,271,873
Ensembl chr 3:11,254,026...11,271,872
JBrowse link
G Pomt2 protein-O-mannosyltransferase 2 ISO
ISS
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1
OMIM:236670
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1
ClinVar
MouseDO
PMID:17559086, PMID:17634419, PMID:17878207, PMID:17878297, PMID:19138766, PMID:19299310, PMID:24002165, PMID:25741868, PMID:26467025, PMID:27854218, PMID:28492532 NCBI chr 6:111,137,329...111,176,991
Ensembl chr 6:111,135,349...111,176,918
JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A10 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rxylt1 ribitol xylosyltransferase 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10
ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A10
OMIM
ClinVar
PMID:23217329, PMID:23519211, PMID:24033266, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 7:64,329,341...64,341,201
Ensembl chr 7:64,326,465...64,341,207
JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A11 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B3galnt2 beta-1,3-N-acetylgalactosaminyltransferase 2 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
ClinVar Annotator: match by OMIM:615181
OMIM
ClinVar
PMID:23453667, PMID:24084573, PMID:25326635, PMID:25741868, PMID:28492532, PMID:29273094, PMID:29302074 NCBI chr17:54,027,859...54,070,399
Ensembl chr17:54,027,859...54,070,399
JBrowse link
G Tbce tubulin folding cofactor E ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 ClinVar PMID:23453667, PMID:28492532 NCBI chr17:53,983,126...54,029,028
Ensembl chr17:53,983,182...54,029,027
JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A12 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fnta farnesyltransferase, CAAX box, alpha ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ClinVar PMID:28492532 NCBI chr16:70,834,957...70,854,724
Ensembl chr16:70,834,957...70,854,724
JBrowse link
G Hook3 hook microtubule-tethering protein 3 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ClinVar PMID:28492532 NCBI chr16:70,710,347...70,818,789 JBrowse link
G Pomk protein-O-mannose kinase ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
ClinVar Annotator: match by OMIM:615249
OMIM
ClinVar
PMID:23519211, PMID:24556084, PMID:24925318, PMID:25741868, PMID:27879205, PMID:28492532 NCBI chr16:70,854,825...70,869,653
Ensembl chr16:70,859,280...70,869,634
JBrowse link
G Rnf170 ring finger protein 170 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ClinVar PMID:28492532 NCBI chr16:70,684,886...70,710,147
Ensembl chr16:70,687,487...70,705,128
JBrowse link
G Thap1 THAP domain containing 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 ClinVar PMID:28492532 NCBI chr16:70,661,360...70,665,831
Ensembl chr16:70,661,320...70,665,831
JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A13 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B4gat1 beta-1,4-glucuronyltransferase 1 ISO ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, B3GNT1-RELATED
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13
ClinVar
OMIM
PMID:23877401, PMID:25558065, PMID:25741868, PMID:28492532 NCBI chr 1:220,322,854...220,325,076
Ensembl chr 1:220,416,018...220,418,240
JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pomt2 protein-O-mannosyltransferase 2 ISO ClinVar Annotator: match by OMIM:613150
ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2
ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMT2-RELATED
ClinVar
OMIM
PMID:15894594, PMID:16701995, PMID:17559086, PMID:17634419, PMID:17869517, PMID:17878207, PMID:17878297, PMID:17923109, PMID:18414213, PMID:18513969, PMID:18752264, PMID:19138766, PMID:19299310, PMID:22323514, PMID:22958903, PMID:24002165, PMID:25267602, PMID:25741868, PMID:26467025, PMID:26495167, PMID:27854218, PMID:28492532, PMID:28973083, PMID:28980384, PMID:29175898, PMID:29382405, PMID:30060766 NCBI chr 6:111,137,329...111,176,991
Ensembl chr 6:111,135,349...111,176,918
JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) ISO ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMGNT1-RELATED
ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3
ClinVar
OMIM
PMID:11709191, PMID:12588800, PMID:12788071, PMID:12849864, PMID:15236414, PMID:15466003, PMID:16427280, PMID:17030669, PMID:17559086, PMID:17878207, PMID:17881266, PMID:17906881, PMID:18195152, PMID:18330676, PMID:19067344, PMID:19299310, PMID:19679478, PMID:20215985, PMID:21361872, PMID:22323514, PMID:22522420, PMID:22554691, PMID:23326386, PMID:23689641, PMID:24282183, PMID:24731844, PMID:25390965, PMID:25525159, PMID:25741868, PMID:26013959, PMID:26467025, PMID:26908613, PMID:26938784, PMID:27493216, PMID:28424332, PMID:28492532, PMID:28688748, PMID:28832562, PMID:30311386 NCBI chr 5:135,007,343...135,017,220
Ensembl chr 5:135,007,343...135,017,218
JBrowse link
G Tspan1 tetraspanin 1 ISO ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMGNT1-RELATED
ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3
ClinVar PMID:11709191, PMID:12588800, PMID:12788071, PMID:12849864, PMID:15236414, PMID:15466003, PMID:16427280, PMID:17030669, PMID:17559086, PMID:17878207, PMID:17881266, PMID:17906881, PMID:18195152, PMID:18330676, PMID:19067344, PMID:19299310, PMID:19679478, PMID:20215985, PMID:21361872, PMID:22323514, PMID:22522420, PMID:22554691, PMID:23326386, PMID:23689641, PMID:24282183, PMID:24731844, PMID:25390965, PMID:25525159, PMID:25741868, PMID:26013959, PMID:26467025, PMID:26938784, PMID:27493216, PMID:28424332, PMID:28492532, PMID:28688748, PMID:28832562, PMID:30311386 NCBI chr 5:135,019,206...135,032,412
Ensembl chr 5:135,019,778...135,025,084
JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fkrp fukutin related protein ISO ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, FKRP-RELATED
ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5
ClinVar Annotator: match by OMIM:613153
OMIM
ClinVar
PMID:11592034, PMID:11741828, PMID:12471058, PMID:12666124, PMID:14647208, PMID:15060126, PMID:15121789, PMID:15574464, PMID:15580560, PMID:15833432, PMID:15886712, PMID:16368217, PMID:16476814, PMID:16634037, PMID:16786213, PMID:17554798, PMID:18060779, PMID:18414213, PMID:18593008, PMID:18639457, PMID:19155270, PMID:19820980, PMID:19835634, PMID:19900540, PMID:20236121, PMID:21220724, PMID:21228398, PMID:22264518, PMID:22981120, PMID:23576288, PMID:23591631, PMID:24033266, PMID:24447024, PMID:25048216, PMID:25560911, PMID:25741868, PMID:26363967, PMID:26467025, PMID:26574668, PMID:26833294, PMID:26923585, PMID:27439679, PMID:28492532, PMID:30311386 NCBI chr 1:78,733,461...78,740,803
Ensembl chr 1:78,733,508...78,739,107
JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Large1 LARGE xylosyl- and glucuronyltransferase 1 ISO ClinVar Annotator: match by OMIM:613154
ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6
ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, LARGE-RELATED
ClinVar
OMIM
PMID:17436019, PMID:17878207, PMID:18414213, PMID:19067344, PMID:19299310, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr19:12,481,563...12,945,320
Ensembl chr19:12,481,540...12,942,963
JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pomgnt2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8
ClinVar Annotator: match by OMIM:614830
OMIM
ClinVar
PMID:18414213, PMID:22958903, PMID:25558065, PMID:25741868, PMID:26467025, PMID:27066570, PMID:28492532 NCBI chr 8:130,615,482...130,631,144
Ensembl chr 8:130,615,711...130,617,833
JBrowse link
congenital muscular dystrophy-dystroglycanopathy type A9 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dag1 dystroglycan 1 ISO ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9 ClinVar
OMIM
PMID:24052401, PMID:25934851, PMID:28492532, PMID:29134705 NCBI chr 8:116,980,501...116,993,182
Ensembl chr 8:116,980,497...116,993,193
JBrowse link
Fukuyama congenital muscular dystrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dag1 dystroglycan 1 ISO protein:decreased expression:brain, heart, skeletal muscle RGD PMID:11445638 RGD:11537476 NCBI chr 8:116,980,501...116,993,182
Ensembl chr 8:116,980,497...116,993,193
JBrowse link
G Fkrp fukutin related protein ISO ClinVar Annotator: match by term: Fukuyama congenital muscular dystrophy ClinVar NCBI chr 1:78,733,461...78,740,803
Ensembl chr 1:78,733,508...78,739,107
JBrowse link
G Fktn fukutin ISO ClinVar Annotator: match by term: Fukuyama congenital muscular dystrophy
ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A4
ClinVar Annotator: match by term: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, FKTN-RELATED
ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4
OMIM
ClinVar
PMID:9690476, PMID:10545611, PMID:11153909, PMID:11165248, PMID:12601708, PMID:14627679, PMID:15103718, PMID:16222679, PMID:17034757, PMID:17036286, PMID:17044012, PMID:17559086, PMID:17597323, PMID:17878207, PMID:18177472, PMID:18414213, PMID:18752264, PMID:19015585, PMID:19179078, PMID:19266496, PMID:19299310, PMID:19342235, PMID:19396839, PMID:19842201, PMID:20620061, PMID:20961758, PMID:21102627, PMID:21228398, PMID:22037554, PMID:22275357, PMID:22958903, PMID:23582336, PMID:23757202, PMID:24033266, PMID:24144914, PMID:25741868, PMID:25814170, PMID:25821721, PMID:26130484, PMID:26467025, PMID:26809617, PMID:26923585, PMID:27065010, PMID:27124789, PMID:28492532, PMID:28680109, PMID:28688748, PMID:30060766, PMID:11445638 RGD:11537476 NCBI chr 5:70,522,001...70,578,270
Ensembl chr 5:70,528,688...70,578,273
JBrowse link
Muscular Dystrophy-Dystroglycanopathy (Congenital with Impaired Intellectual Development), type B, 14 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gmppb GDP-mannose pyrophosphorylase B ISO ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, CONGENITAL, GMPPB-RELATED
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14
OMIM
ClinVar
PMID:19901254, PMID:23768512, PMID:23894383, PMID:24033266, PMID:24780531, PMID:25326637, PMID:25681410, PMID:25741868, PMID:25770200, PMID:26133662, PMID:26310427, PMID:27147698, PMID:27527004, PMID:27766311, PMID:27874200, PMID:28478914, PMID:28492532, PMID:28554332, PMID:28914264, PMID:29437916, PMID:30060766, PMID:30257713, PMID:30311386, PMID:30684953 NCBI chr 8:116,826,251...116,856,159
Ensembl chr 8:116,826,680...116,856,159
JBrowse link
G Nnt nicotinamide nucleotide transhydrogenase ISO ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 14 ClinVar PMID:25741868, PMID:26070314 NCBI chr 2:52,189,523...52,283,095
Ensembl chr 2:52,189,529...52,282,548
JBrowse link
Muscular Dystrophy-Dystroglycanopathy (congenital with mental retardation), Type B, 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pomt1 protein-O-mannosyltransferase 1 ISO ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL IMPAIRMENT), TYPE B, 1
ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, CONGENITAL, POMT1-RELATED
OMIM
ClinVar
PMID:12369018, PMID:15637732, PMID:16575835, PMID:16717220, PMID:17559086, PMID:17869517, PMID:17878207, PMID:18513969, PMID:18640039, PMID:18752264, PMID:19299310, PMID:20816175, PMID:22323514, PMID:22549409, PMID:23757202, PMID:24304607, PMID:24491487, PMID:25741868, PMID:26467025, PMID:28116189, PMID:28492532, PMID:30311386, PMID:32860008 NCBI chr 3:11,253,424...11,271,873
Ensembl chr 3:11,254,026...11,271,872
JBrowse link
Muscular Dystrophy-Dystroglycanopathy (congenital with mental retardation), Type B, 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pomt2 protein-O-mannosyltransferase 2 ISO ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2
ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, CONGENITAL, POMT2-RELATED
ClinVar Annotator: match by OMIM:613156
OMIM
ClinVar
PMID:16701995, PMID:17634419, PMID:17869517, PMID:17878207, PMID:17878297, PMID:19138766, PMID:19299310, PMID:24002165, PMID:25741868, PMID:27854218, PMID:28492532 NCBI chr 6:111,137,329...111,176,991
Ensembl chr 6:111,135,349...111,176,918
JBrowse link
Muscular Dystrophy-Dystroglycanopathy (congenital with mental retardation), Type B, 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) ISO ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, CONGENITAL, POMGNT1-RELATED OMIM
ClinVar
PMID:11709191, PMID:12588800, PMID:15236414, PMID:15466003, PMID:16427280, PMID:17030669, PMID:17559086, PMID:17878207, PMID:17881266, PMID:17906881, PMID:18195152, PMID:18330676, PMID:19067344, PMID:19299310, PMID:19679478, PMID:21361872, PMID:22323514, PMID:22554691, PMID:23326386, PMID:23689641, PMID:24282183, PMID:24731844, PMID:25390965, PMID:25525159, PMID:25741868, PMID:26013959, PMID:26467025, PMID:26938784, PMID:28424332, PMID:28492532, PMID:28688748, PMID:28832562, PMID:30311386 NCBI chr 5:135,007,343...135,017,220
Ensembl chr 5:135,007,343...135,017,218
JBrowse link
G Tspan1 tetraspanin 1 ISO ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, CONGENITAL, POMGNT1-RELATED ClinVar PMID:11709191, PMID:12588800, PMID:15236414, PMID:15466003, PMID:16427280, PMID:17030669, PMID:17559086, PMID:17878207, PMID:17881266, PMID:17906881, PMID:18195152, PMID:18330676, PMID:19067344, PMID:19299310, PMID:19679478, PMID:21361872, PMID:22323514, PMID:22554691, PMID:23326386, PMID:23689641, PMID:24282183, PMID:24731844, PMID:25390965, PMID:25525159, PMID:25741868, PMID:26013959, PMID:26467025, PMID:26938784, PMID:28424332, PMID:28492532, PMID:28688748, PMID:28832562, PMID:30311386 NCBI chr 5:135,019,206...135,032,412
Ensembl chr 5:135,019,778...135,025,084
JBrowse link
Muscular Dystrophy-Dystroglycanopathy (congenital without mental retardation), Type B, 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fktn fukutin ISO ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, CONGENITAL, FKTN-RELATED
ClinVar Annotator: match by OMIM:613152
OMIM
ClinVar
PMID:17044012, PMID:17878207, PMID:19015585, PMID:19179078, PMID:19299310, PMID:19396839, PMID:20961758, PMID:23582336, PMID:24033266, PMID:25741868, PMID:25821721, PMID:26467025, PMID:26923585, PMID:28492532, PMID:30060766 NCBI chr 5:70,522,001...70,578,270
Ensembl chr 5:70,528,688...70,578,273
JBrowse link
Muscular Dystrophy-Dystroglycanopathy Type B15 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dpm3 dolichyl-phosphate mannosyltransferase subunit 3, regulatory ISO ClinVar Annotator: match by term: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 15 OMIM
ClinVar
PMID:31469168 NCBI chr 2:188,583,664...188,584,179
Ensembl chr 2:188,583,664...188,584,179
JBrowse link
muscular dystrophy-dystroglycanopathy type B5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fkrp fukutin related protein ISO ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, CONGENITAL, FKRP-RELATED
ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B5
ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B5
DNA:missense mutations: :p.A455D, p.V405L (human)
OMIM
ClinVar
PMID:11053680, PMID:11592034, PMID:11741828, PMID:12471058, PMID:12654965, PMID:12666124, PMID:14647208, PMID:14652796, PMID:15060126, PMID:15574464, PMID:15580560, PMID:15833432, PMID:15886712, PMID:16368217, PMID:16634037, PMID:16786213, PMID:17336067, PMID:17554798, PMID:18060779, PMID:18414213, PMID:18593008, PMID:18639457, PMID:18671187, PMID:19820980, PMID:19833706, PMID:19835634, PMID:19900540, PMID:19955119, PMID:21220724, PMID:21228398, PMID:22264518, PMID:22981120, PMID:23420653, PMID:23576288, PMID:23591631, PMID:23894383, PMID:24033266, PMID:24447024, PMID:25048216, PMID:25560911, PMID:25741868, PMID:26363967, PMID:26467025, PMID:26574668, PMID:26833294, PMID:27439679, PMID:28454995, PMID:28492532, PMID:29065428, PMID:30311386, PMID:31041397, PMID:31671740, PMID:14652796 RGD:1358626 NCBI chr 1:78,733,461...78,740,803
Ensembl chr 1:78,733,508...78,739,107
JBrowse link
muscular dystrophy-dystroglycanopathy type B6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Large1 LARGE xylosyl- and glucuronyltransferase 1 ISO ClinVar Annotator: match by term: Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6
ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, CONGENITAL, TYPE 1D
ClinVar Annotator: match by OMIM:608840
ClinVar
OMIM
PMID:12966029, PMID:15661757, PMID:17878207, PMID:18414213, PMID:19067344, PMID:24709677, PMID:25741868, PMID:26467025, PMID:27159402, PMID:28454995, PMID:28492532, PMID:12966029 RGD:1358756 NCBI chr19:12,481,563...12,945,320
Ensembl chr19:12,481,540...12,942,963
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    Developmental Diseases 9510
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8355
        genetic disease 7860
          congenital muscular dystrophy 69
            muscular dystrophy-dystroglycanopathy 38
              Muscular Dystrophy-Dystroglycanopathy (Congenital with Impaired Intellectual Development), type B, 14 2
              Muscular Dystrophy-Dystroglycanopathy (congenital with mental retardation), Type B, 1 1
              Muscular Dystrophy-Dystroglycanopathy (congenital with mental retardation), Type B, 2 1
              Muscular Dystrophy-Dystroglycanopathy (congenital with mental retardation), Type B, 3 2
              Muscular Dystrophy-Dystroglycanopathy (congenital without mental retardation), Type B, 4 1
              Muscular Dystrophy-Dystroglycanopathy Type B15 1
              autosomal recessive limb-girdle muscular dystrophy type 2P 13
              congenital muscular dystrophy-dystroglycanopathy type A + 24
              muscular dystrophy-dystroglycanopathy type B5 1
              muscular dystrophy-dystroglycanopathy type B6 1
Path 2
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      nervous system disease 10879
        peripheral nervous system disease 2476
          neuropathy 2297
            neuromuscular disease 1778
              muscular disease 1201
                muscle tissue disease 813
                  atrophic muscular disease 329
                    muscular dystrophy 327
                      congenital muscular dystrophy 69
                        muscular dystrophy-dystroglycanopathy 38
                          Muscular Dystrophy-Dystroglycanopathy (Congenital with Impaired Intellectual Development), type B, 14 2
                          Muscular Dystrophy-Dystroglycanopathy (congenital with mental retardation), Type B, 1 1
                          Muscular Dystrophy-Dystroglycanopathy (congenital with mental retardation), Type B, 2 1
                          Muscular Dystrophy-Dystroglycanopathy (congenital with mental retardation), Type B, 3 2
                          Muscular Dystrophy-Dystroglycanopathy (congenital without mental retardation), Type B, 4 1
                          Muscular Dystrophy-Dystroglycanopathy Type B15 1
                          autosomal recessive limb-girdle muscular dystrophy type 2P 13
                          congenital muscular dystrophy-dystroglycanopathy type A + 24
                          muscular dystrophy-dystroglycanopathy type B5 1
                          muscular dystrophy-dystroglycanopathy type B6 1
paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.