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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:congenital muscular dystrophy
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Accession:DOID:0050557 term browser browse the term
Definition:A muscular dystrophy that is characterized by diminished muscle tone (hypotonia), progressive muscle weakness and degeneration (atrophy), abnormally fixed joints, spinal rigidity, and delays in reaching motor milestones such as sitting or standing unassisted. (DO)
Synonyms:exact_synonym: CMD
 narrow_synonym: CONGENITAL MUSCULAR DYSTROPHY, ALPHA-DYSTROGLYCAN RELATED
 xref: GARD:9138;   ICD9CM:359.0;   ORDO:97242
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
congenital muscular dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Capn3 calpain 3 ISO ClinVar Annotator: match by term: Congenital muscular dystrophy ClinVar PMID:7720071, PMID:9266733, PMID:10330340, PMID:10679950, PMID:14578192, PMID:14981715, PMID:15351423, PMID:15689361, PMID:15725583, PMID:16100770, PMID:16141003, PMID:16650086, PMID:17318636, PMID:20635405, PMID:21204801, PMID:21984748, PMID:25741868, PMID:26467025, PMID:27142102, PMID:28492532, PMID:30311386 NCBI chr 3:112,227,486...112,278,408
Ensembl chr 3:112,228,720...112,278,408
JBrowse link
G Col6a3 collagen type VI alpha 3 chain ISS OMIM:254100 MouseDO NCBI chr 9:97,926,784...98,004,643
Ensembl chr 9:97,926,787...98,004,546
JBrowse link
G Crppa CDP-L-ribitol pyrophosphorylase A ISO ClinVar Annotator: match by term: Congenital Muscular Dystrophy, alpha-dystroglycan related ClinVar PMID:18414213, PMID:24033266, PMID:25741868, PMID:26467025, PMID:28492532, 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 Fkbp14 FKBP prolyl isomerase 14 ISO ClinVar Annotator: match by term: Congenital muscular dystrophy ClinVar PMID:22265013, PMID:24677762, PMID:24773188, PMID:25741868, PMID:27149304, PMID:28492532, PMID:28617417, PMID:30311386, PMID:31132235 NCBI chr 4:84,753,628...84,768,314
Ensembl chr 4:84,753,633...84,768,249
JBrowse link
G Lama2 laminin subunit alpha 2 ISO ClinVar Annotator: match by term: Congenital muscular dystrophy ClinVar NCBI chr 1:18,491,264...19,143,486
Ensembl chr 1:18,491,384...19,143,269
JBrowse link
G Large1 LARGE xylosyl- and glucuronyltransferase 1 ISO ClinVar Annotator: match by term: Congenital Muscular Dystrophy, alpha-dystroglycan related ClinVar NCBI chr19:12,481,563...12,945,320
Ensembl chr19:12,481,540...12,942,963
JBrowse link
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Congenital muscular dystrophy ClinVar PMID:15770669, PMID:25741868, PMID:26467025, PMID:26900797, PMID:28492532 NCBI chr 2:187,842,884...187,863,552
Ensembl chr 2:187,842,885...187,863,516
JBrowse link
G Neb nebulin ISO ClinVar Annotator: match by term: Congenital muscular dystrophy ClinVar PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 3:37,658,081...37,855,843
Ensembl chr 3:37,658,563...37,854,561
JBrowse link
G Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) ISO ClinVar Annotator: match by term: Congenital muscular dystrophy
ClinVar Annotator: match by term: Congenital Muscular Dystrophy, alpha-dystroglycan related
ClinVar Annotator: match by term: Muscular dystrophy, congenital
ClinVar PMID:15466003, PMID:17878207, PMID:17906881, PMID:18195152, PMID:18691338, PMID:19067344, PMID:19299310, PMID:20981092, PMID:21228398, PMID:21361872, PMID:21727005, PMID:22323514, PMID:22554691, PMID:22995991, PMID:24033266, PMID:24123366, PMID:25326635, PMID:25333069, PMID:25741868, PMID:26467025, PMID:27884173, PMID:28424332, PMID:28492532, PMID:28688748, PMID:30311386, PMID:30961548 NCBI chr 5:135,007,343...135,017,220
Ensembl chr 5:135,007,343...135,017,218
JBrowse link
G Pomt1 protein-O-mannosyltransferase 1 ISO ClinVar Annotator: match by term: Congenital muscular dystrophy ClinVar PMID:23757202, PMID:24033266 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 ClinVar Annotator: match by term: Congenital muscular dystrophy ClinVar NCBI chr 6:111,137,329...111,176,991
Ensembl chr 6:111,135,349...111,176,918
JBrowse link
G Rif1 replication timing regulatory factor 1 ISO ClinVar Annotator: match by term: Congenital muscular dystrophy ClinVar PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 3:37,599,540...37,648,818
Ensembl chr 3:37,599,728...37,647,631
JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Congenital muscular dystrophy ClinVar PMID:18813041, PMID:20301325, PMID:21878807, PMID:21918424, PMID:22473935, PMID:23329375, PMID:23394784, PMID:24055113, PMID:24195946, PMID:24433488, PMID:25637381, PMID:25735680, PMID:25741868, PMID:26332594, PMID:26467025, PMID:27058611, PMID:27147545, PMID:27153395, PMID:28492532 NCBI chr 1:87,959,596...88,066,252
Ensembl chr 1:87,959,712...88,066,101
JBrowse link
G Tspan1 tetraspanin 1 ISO ClinVar Annotator: match by term: Congenital muscular dystrophy
ClinVar Annotator: match by term: Congenital Muscular Dystrophy, alpha-dystroglycan related
ClinVar PMID:15466003, PMID:17878207, PMID:17906881, PMID:18195152, PMID:18691338, PMID:19067344, PMID:19299310, PMID:20981092, PMID:21228398, PMID:21361872, PMID:21727005, PMID:22323514, PMID:22554691, PMID:22995991, PMID:24033266, PMID:24123366, PMID:25326635, PMID:25333069, PMID:25741868, PMID:26467025, PMID:27884173, PMID:28424332, PMID:28492532, PMID:28688748, PMID:30311386, PMID:30961548 NCBI chr 5:135,019,206...135,032,412
Ensembl chr 5:135,019,778...135,025,084
JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Congenital muscular dystrophy ClinVar PMID:25741868 NCBI chr 3:63,565,160...63,837,815 JBrowse link
arthrogryposis due to muscular dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Muscular dystrophy and arthrogryposis ClinVar PMID:22526018, PMID:24195946, PMID:25741868, PMID:28492532, PMID:30611313 NCBI chr 1:87,959,596...88,066,252
Ensembl chr 1:87,959,712...88,066,101
JBrowse link
autosomal recessive limb-girdle muscular dystrophy type 2P term browser
Symbol Object Name Qualifiers 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
Bethlem myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col12a1 collagen type XII alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:87,042,820...87,150,701
Ensembl chr 8:87,040,799...87,158,368
JBrowse link
G Col6a1 collagen type VI alpha 1 chain ISO ClinVar Annotator: match by OMIM:158810
ClinVar Annotator: match by term: Collagen VI-related myopathy
ClinVar Annotator: match by term: Muscular dystrophy, benign congenital
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Bethlem myopathy 1
ClinVar
CTD
PMID:11865138, PMID:15689448, PMID:16130093, PMID:18414213, PMID:18852439, PMID:19949035, PMID:20302629, PMID:20981092, PMID:22426012, PMID:23040494, PMID:23564457, PMID:23757202, PMID:24033266, PMID:24038877, PMID:25741868, PMID:26467025, PMID:27884173, PMID:28492532, PMID:30311386, PMID:30564623 NCBI chr20:12,657,913...12,676,370
Ensembl chr20:12,658,065...12,675,561
JBrowse link
G Col6a2 collagen type VI alpha 2 chain ISO ClinVar Annotator: match by OMIM:158810
ClinVar Annotator: match by term: Collagen VI-related myopathy
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:12840783, PMID:15689448, PMID:16130093, PMID:16935502, PMID:17886299, PMID:18378883, PMID:18414213, PMID:18825676, PMID:19309692, PMID:19564581, PMID:19884007, PMID:19949035, PMID:20301676, PMID:20576434, PMID:20729548, PMID:20976770, PMID:21280092, PMID:22992134, PMID:23040494, PMID:23757202, PMID:24033266, PMID:24038877, PMID:24314752, PMID:24801232, PMID:25533456, PMID:25535305, PMID:25635128, PMID:25741868, PMID:26467025, PMID:26752647, PMID:27447704, PMID:27456059, PMID:27782108, PMID:27854218, PMID:28492532, PMID:28660205, PMID:29419890, PMID:30564623 NCBI chr20:12,773,472...12,801,179
Ensembl chr20:12,773,427...12,801,180
JBrowse link
G Col6a3 collagen type VI alpha 3 chain ISO ClinVar Annotator: match by OMIM:158810
ClinVar Annotator: match by term: Collagen VI-related myopathy
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Bethlem myopathy 1
ClinVar
CTD
PMID:15563506, PMID:15689448, PMID:16935502, PMID:17785673, PMID:17886299, PMID:18378883, PMID:18414213, PMID:18825676, PMID:20976770, PMID:20981092, PMID:22995991, PMID:23040494, PMID:23757202, PMID:24033266, PMID:24038877, PMID:25214167, PMID:25224718, PMID:25741868, PMID:26004199, PMID:26247046, PMID:26284228, PMID:26467025, PMID:26872670, PMID:27854218, PMID:28492532, PMID:28688748, PMID:29970176, PMID:30487145, PMID:30564623 NCBI chr 9:97,926,784...98,004,643
Ensembl chr 9:97,926,787...98,004,546
JBrowse link
G Ftcd formimidoyltransferase cyclodeaminase ISO ClinVar Annotator: match by term: Collagen VI-related myopathy ClinVar PMID:18414213, PMID:24801232, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr20:12,806,957...12,820,466
Ensembl chr20:12,806,957...12,820,466
JBrowse link
Bethlem Myopathy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ackr3 atypical chemokine receptor 3 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:28492532 NCBI chr 9:97,355,881...97,367,455
Ensembl chr 9:97,355,924...97,367,445
JBrowse link
G Col6a1 collagen type VI alpha 1 chain susceptibility ISO Bethlem myopathy, OMIM:158810;DNA:mutation:cds:962G>T,p.G286V(human)
ClinVar Annotator: match by term: Bethlem myopathy 1
ClinVar
OMIM
PMID:7695699, PMID:7881296, PMID:8218237, PMID:8268929, PMID:8782832, PMID:9580662, PMID:10329467, PMID:10419498, PMID:11865138, PMID:11932968, PMID:12840783, PMID:15689448, PMID:15955946, PMID:16130093, PMID:16141002, PMID:16935502, PMID:17785673, PMID:17785674, PMID:17886299, PMID:18160674, PMID:18366090, PMID:18378883, PMID:18414213, PMID:18642359, PMID:18825676, PMID:18852439, PMID:19344236, PMID:19564581, PMID:19884007, PMID:19949035, PMID:20301468, PMID:20302629, PMID:20576434, PMID:20882040, PMID:20976770, PMID:20981092, PMID:21280092, PMID:21520333, PMID:22075033, PMID:22426012, PMID:22975586, PMID:23040494, PMID:23326386, PMID:23564457, PMID:23572247, PMID:23661642, PMID:24033266, PMID:24038877, PMID:24223098, PMID:24271325, PMID:24801232, PMID:24959844, PMID:25535305, PMID:25635128, PMID:25741868, PMID:25749816, PMID:25978941, PMID:26436962, PMID:26467025, PMID:26867126, PMID:27246988, PMID:27363342, PMID:27447704, PMID:27708273, PMID:27854213, PMID:27884173, PMID:28182637, PMID:28424332, PMID:28492532, PMID:28688748, PMID:28771251, PMID:28877744, PMID:28984114, PMID:29406609, PMID:29417091, PMID:29419890, PMID:30311386, PMID:30564623, PMID:30706156, PMID:8782832 RGD:1600934 NCBI chr20:12,657,913...12,676,370
Ensembl chr20:12,658,065...12,675,561
JBrowse link
G Col6a2 collagen type VI alpha 2 chain susceptibility ISO Bethlem myopathy, OMIM:158810, DNA:mutation:cds:898G>A, p.G250S(human)
ClinVar Annotator: match by term: Bethlem myopathy 1
ClinVar Annotator: match by term: BETHLEM MYOPATHY 1, AUTOSOMAL RECESSIVE
ClinVar
OMIM
PMID:1788629, PMID:4271325, PMID:7695699, PMID:7785673, PMID:8218237, PMID:8782832, PMID:9334230, PMID:11865138, PMID:12840783, PMID:15689448, PMID:16130093, PMID:16935502, PMID:17785673, PMID:17886299, PMID:18160674, PMID:18366090, PMID:18378883, PMID:18414213, PMID:18825676, PMID:18852439, PMID:19309692, PMID:19344236, PMID:19564581, PMID:19884007, PMID:19949035, PMID:20106987, PMID:20576434, PMID:20729548, PMID:20976770, PMID:21280092, PMID:21520333, PMID:22075033, PMID:23040494, PMID:23138527, PMID:23170014, PMID:23326386, PMID:23757202, PMID:23940025, PMID:24033266, PMID:24038877, PMID:24271325, PMID:24314752, PMID:24801232, PMID:25204870, PMID:25326637, PMID:25380242, PMID:25533456, PMID:25535305, PMID:25741868, PMID:26467025, PMID:26752647, PMID:27159402, PMID:27363342, PMID:27447704, PMID:27456059, PMID:27782108, PMID:27854218, PMID:28492532, PMID:28660205, PMID:28688748, PMID:28831785, PMID:29172004, PMID:29419890, PMID:30564623, PMID:32860008, PMID:8782832 RGD:1600934 NCBI chr20:12,773,472...12,801,179
Ensembl chr20:12,773,427...12,801,180
JBrowse link
G Col6a3 collagen type VI alpha 3 chain ISO ClinVar Annotator: match by term: Bethlem myopathy 1 OMIM
ClinVar
PMID:7695699, PMID:8218237, PMID:9536084, PMID:11381124, PMID:11865138, PMID:11932968, PMID:15563506, PMID:15689448, PMID:16935502, PMID:17537636, PMID:17785673, PMID:17886299, PMID:18366090, PMID:18378883, PMID:18414213, PMID:18825676, PMID:18852439, PMID:19344236, PMID:19564581, PMID:19949035, PMID:20976770, PMID:20981092, PMID:21280092, PMID:22995991, PMID:23040494, PMID:23175733, PMID:23564457, PMID:24033266, PMID:24038877, PMID:24271325, PMID:24907562, PMID:25214167, PMID:25224718, PMID:25326635, PMID:25380242, PMID:25535305, PMID:25741868, PMID:26004199, PMID:26247046, PMID:26284228, PMID:26436962, PMID:26467025, PMID:26752647, PMID:26872670, PMID:27447704, PMID:27708273, PMID:27854213, PMID:27854218, PMID:28097933, PMID:28492532, PMID:28688748, PMID:29970176, PMID:30311386, PMID:30467950, PMID:30487145, PMID:30564623, PMID:31044083 NCBI chr 9:97,926,784...98,004,643
Ensembl chr 9:97,926,787...98,004,546
JBrowse link
G Cops8 COP9 signalosome subunit 8 ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:28492532 NCBI chr 9:97,772,224...97,782,055
Ensembl chr 9:97,772,184...97,782,067
JBrowse link
G Ftcd formimidoyltransferase cyclodeaminase ISO ClinVar Annotator: match by term: Bethlem myopathy 1 ClinVar PMID:24801232, PMID:25741868, PMID:26467025, PMID:28492532 NCBI chr20:12,806,957...12,820,466
Ensembl chr20:12,806,957...12,820,466
JBrowse link
Bethlem Myopathy 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col12a1 collagen type XII alpha 1 chain ISO ClinVar Annotator: match by term: Bethlem myopathy 2 ClinVar
OMIM
PMID:24334604, PMID:24334769, PMID:25741868, PMID:28492532 NCBI chr 8:87,042,820...87,150,701
Ensembl chr 8:87,040,799...87,158,368
JBrowse link
congenital merosin-deficient muscular dystrophy 1A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bche butyrylcholinesterase ISO RGD PMID:12383920 RGD:5688132 NCBI chr 2:171,104,476...171,196,186
Ensembl chr 2:171,100,140...171,196,395
JBrowse link
G Lama2 laminin subunit alpha 2 treatment ISO ClinVar Annotator: match by term: Merosin deficient congenital muscular dystrophy
ClinVar Annotator: match by term: Laminin alpha 2-related dystrophy
ClinVar Annotator: match by term: Muscular dystrophy, congenital, merosin-deficient 1A
ClinVar Annotator: match by term: Congenital Muscular Dystrophy, LAMA2-related
ClinVar Annotator: match by OMIM:607855
OMIM
ClinVar
PMID:0055037, PMID:1061118, PMID:2152033, PMID:7550355, PMID:8957020, PMID:9158149, PMID:9185182, PMID:9541105, PMID:9674786, PMID:9829280, PMID:10022829, PMID:10611118, PMID:10619025, PMID:10694916, PMID:10747011, PMID:10852549, PMID:11071490, PMID:11287370, PMID:11369186, PMID:11591858, PMID:11938437, PMID:12100448, PMID:12552556, PMID:12601554, PMID:16216942, PMID:17949279, PMID:18414213, PMID:18700894, PMID:19294599, PMID:19388593, PMID:20207543, PMID:21520333, PMID:21896784, PMID:21922472, PMID:21953594, PMID:22166137, PMID:22426012, PMID:22675738, PMID:23326386, PMID:23757202, PMID:23911319, PMID:24033266, PMID:24082139, PMID:24223650, PMID:24225367, PMID:24534542, PMID:24611677, PMID:24957499, PMID:25124546, PMID:25214167, PMID:25326637, PMID:25332755, PMID:25525159, PMID:25663498, PMID:25741868, PMID:26104111, PMID:26304763, PMID:26436962, PMID:26467025, PMID:26607181, PMID:26633542, PMID:27159402, PMID:27353517, PMID:27447704, PMID:27708273, PMID:27854218, PMID:27858741, PMID:27858771, PMID:27896284, PMID:27932089, PMID:28182637, PMID:28445022, PMID:28492532, PMID:28554332, PMID:28688748, PMID:28877744, PMID:29706646, PMID:30055037, PMID:30147969, PMID:30301903, PMID:30311386, PMID:30373198, PMID:30827497, PMID:32860008, PMID:28714989 RGD:13605609 NCBI chr 1:18,491,264...19,143,486
Ensembl chr 1:18,491,384...19,143,269
JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Muscular dystrophy congenital, merosin negative ClinVar PMID:25741868, PMID:27854218, PMID:28492532 NCBI chr 3:63,565,160...63,837,815 JBrowse link
congenital muscular dystrophy due to integrin alpha-7 deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crppa CDP-L-ribitol pyrophosphorylase A ISO ClinVar Annotator: match by term: Muscular dystrophy, congenital, due to integrin alpha-7 deficiency ClinVar PMID:25741868 NCBI chr 6:55,880,136...56,159,466
Ensembl chr 6:55,881,387...56,159,464
JBrowse link
G Itga7 integrin subunit alpha 7 ISO ClinVar Annotator: match by term: Muscular dystrophy, congenital, due to integrin alpha-7 deficiency
ClinVar Annotator: match by term: Congenital Muscular Dystrophy, ITGA7-related
ClinVar Annotator: match by term: Muscular dystrophy, congenital, due to ITGA7 deficiency
ClinVar Annotator: match by OMIM:613204
OMIM
ClinVar
PMID:9590299, PMID:18414213, PMID:24033266, PMID:25741868, PMID:26467025, PMID:27854218, PMID:28492532, PMID:9354797 RGD:13601979 NCBI chr 7:3,355,079...3,383,886
Ensembl chr 7:3,355,116...3,384,675
JBrowse link
congenital muscular dystrophy due to LMNA mutation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Congenital muscular dystrophy, LMNA-related
associated with Dropped Head Syndromes;DNA:missense mutations:cds:p.N39S, p.R249W, p.E358K (human)
ClinVar Annotator: match by OMIM:613205
OMIM
ClinVar
PMID:10612827, PMID:10655060, PMID:10939567, PMID:11503164, PMID:11792809, PMID:12057196, PMID:12467752, PMID:12629077, PMID:12920062, PMID:12927431, PMID:14597414, PMID:14615128, PMID:14749366, PMID:15140538, PMID:15148145, PMID:15205219, PMID:15372542, PMID:15475483, PMID:15622532, PMID:15961312, PMID:15998779, PMID:16174718, PMID:16440304, PMID:17274801, PMID:17377071, PMID:17881656, PMID:18396274, PMID:18414213, PMID:18549403, PMID:18551513, PMID:18795223, PMID:19318026, PMID:19424285, PMID:19427440, PMID:19589617, PMID:19638735, PMID:19680556, PMID:20848652, PMID:20886652, PMID:20980393, PMID:21520333, PMID:21535365, PMID:21632249, PMID:21653823, PMID:22090424, PMID:22224630, PMID:22266370, PMID:22326558, PMID:22464770, PMID:22491857, PMID:22918509, PMID:23183350, PMID:23328570, PMID:23427149, PMID:23853504, PMID:23861362, PMID:24001739, PMID:24033266, PMID:24055113, PMID:24375749, PMID:24503780, PMID:24508248, PMID:24642510, PMID:24656463, PMID:24721642, PMID:24768879, PMID:24806962, PMID:24846508, PMID:25214167, PMID:25326635, PMID:25637381, PMID:25741868, PMID:26098624, PMID:26183555, PMID:26332594, PMID:26467025, PMID:26602028, PMID:26752647, PMID:27532257, PMID:27585670, PMID:27600705, PMID:27723096, PMID:27813223, PMID:27854218, PMID:27876398, PMID:27896052, PMID:27919367, PMID:28074886, PMID:28255936, PMID:28492532, PMID:28531892, PMID:28663758, PMID:28679633, PMID:28785654, PMID:29040816, PMID:29149195, PMID:29237675, PMID:29791652, PMID:29893365, PMID:30055862, PMID:30165862, PMID:30311386, PMID:24508248 RGD:12791283 NCBI chr 2:187,842,884...187,863,552
Ensembl chr 2:187,842,885...187,863,516
JBrowse link
Congenital Muscular Dystrophy due to Partial LAMA2 Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lama2 laminin subunit alpha 2 ISO ClinVar Annotator: match by term: Congenital muscular dystrophy due to partial LAMA2 deficiency ClinVar PMID:8957020, PMID:9158149, PMID:9541105, PMID:9674786, PMID:10611118, PMID:10852549, PMID:11071490, PMID:12100448, PMID:12552556, PMID:18414213, PMID:20207543, PMID:21520333, PMID:21896784, PMID:21953594, PMID:22166137, PMID:22426012, PMID:23326386, PMID:24082139, PMID:24223650, PMID:24225367, PMID:24611677, PMID:24957499, PMID:25525159, PMID:25587058, PMID:25741868, PMID:26467025, PMID:26607181, PMID:27159402, PMID:27353517, PMID:27854218, PMID:27896284, PMID:28182637, PMID:28492532, PMID:28688748, PMID:29706646, PMID:30055037, PMID:30301903, PMID:30827497 NCBI chr 1:18,491,264...19,143,486
Ensembl chr 1:18,491,384...19,143,269
JBrowse link
congenital muscular dystrophy with cataracts and intellectual disability term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Inpp5k inositol polyphosphate-5-phosphatase K ISO ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, CONGENITAL, WITH CATARACTS AND INTELLECTUAL DISABILITY ClinVar
OMIM
PMID:28190456, PMID:28190459 NCBI chr10:63,775,639...63,796,879
Ensembl chr10:63,776,378...63,795,899
JBrowse link
Congenital Muscular Dystrophy with Central Nervous System Involvement term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fktn fukutin ISO ClinVar Annotator: match by term: Muscular dystrophy, congenital, with central nervous system involvement ClinVar PMID:10545611, PMID:14627679, PMID:17044012, PMID:17559086, PMID:17878207, PMID:18177472, PMID:18414213, PMID:18752264, PMID:19015585, PMID:19179078, PMID:19266496, PMID:19299310, PMID:19396839, PMID:20961758, PMID:21102627, PMID:21228398, PMID:22037554, PMID:23582336, PMID:23757202, PMID:24033266, PMID:24144914, PMID:25741868, PMID:25821721, PMID:26130484, PMID:26467025, PMID:26923585, PMID:27065010, PMID:28492532, PMID:30060766 NCBI chr 5:70,522,001...70,578,270
Ensembl chr 5:70,528,688...70,578,273
JBrowse link
Congenital Muscular Dystrophy, Davignon-Chauveau Type term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trip4 thyroid hormone receptor interactor 4 ISO ClinVar Annotator: match by term: Muscular dystrophy, congenital, davignon-chauveau type ClinVar
OMIM
PMID:25741868, PMID:27008887, PMID:31794073 NCBI chr 8:71,369,121...71,533,281
Ensembl chr 8:71,371,370...71,533,459
JBrowse link
congenital muscular dystrophy-dystroglycanopathy A14 term browser
Symbol Object Name Qualifiers 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 Qualifiers 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 Qualifiers 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 Qualifiers 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 Qualifiers 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 Qualifiers 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 Qualifiers 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 Qualifiers 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 Qualifiers 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 Qualifiers 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 Qualifiers 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 Qualifiers 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 Qualifiers 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 Qualifiers 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 Qualifiers 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
megaconial type congenital muscular dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chkb choline kinase beta ISO ClinVar Annotator: match by term: Megaconial type congenital muscular dystrophy
ClinVar Annotator: match by term: Muscular dystrophy, congenital, megaconial type
ClinVar Annotator: match by term: Congenital Muscular Dystrophy, CHKB-related
ClinVar Annotator: match by OMIM:602541
OMIM
ClinVar
PMID:7767093, PMID:9427222, PMID:21665002, PMID:23692895, PMID:23945283, PMID:24997086, PMID:25326635, PMID:25326637, PMID:25740612, PMID:25741868, PMID:26467025, PMID:26782016, PMID:28492532 NCBI chr 7:130,404,818...130,408,813
Ensembl chr 7:130,404,832...130,408,187
JBrowse link
muscular dystrophy-dystroglycanopathy term browser
Symbol Object Name Qualifiers 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
Muscular Dystrophy-Dystroglycanopathy (Congenital with Impaired Intellectual Development), type B, 14 term browser
Symbol Object Name Qualifiers 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 Qualifiers 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 Qualifiers 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 Qualifiers 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 Qualifiers 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 Qualifiers 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 Qualifiers 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 Qualifiers 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
rigid spine muscular dystrophy 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acta1 actin, alpha 1, skeletal muscle ISO ClinVar Annotator: match by term: Congenital muscular dystrophy with rigid spine ClinVar PMID:27854218 NCBI chr19:56,674,072...56,677,084
Ensembl chr19:56,674,074...56,677,084
JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Multi-minicore disease and atypical periodic paralysis
ClinVar Annotator: match by term: Multiminicore/minicore/multicore disease
ClinVar PMID:18414213, PMID:20080402, PMID:20583297, PMID:21674524, PMID:21911697, PMID:22473935, PMID:23553787, PMID:23919265, PMID:24033266, PMID:24088041, PMID:24195946, PMID:24950660, PMID:24951453, PMID:25214167, PMID:25476234, PMID:25658027, PMID:25735680, PMID:25741868, PMID:25958340, PMID:25960145, PMID:26633545, PMID:28492532, PMID:30611313 NCBI chr 1:87,959,596...88,066,252
Ensembl chr 1:87,959,712...88,066,101
JBrowse link
G Selenon selenoprotein N ISO DNA:frameshift mutations, missense mutations, nonsense mutation:cds:multiple (human)
ClinVar Annotator: match by term: Eichsfeld type congenital muscular dystrophy
ClinVar Annotator: match by term: Desmin-related myopathies with Mallory bodies
ClinVar Annotator: match by OMIM:602771
ClinVar
OMIM
PMID:1219264, PMID:7224095, PMID:11079538, PMID:11528383, PMID:12192640, PMID:12207930, PMID:15122708, PMID:15668457, PMID:15792869, PMID:16365872, PMID:16498447, PMID:16779558, PMID:17365175, PMID:17951086, PMID:18313359, PMID:18414213, PMID:18713863, PMID:19067361, PMID:19285539, PMID:19557870, PMID:19763152, PMID:20307669, PMID:20623375, PMID:20937510, PMID:21131290, PMID:21670436, PMID:22406018, PMID:23394784, PMID:24033266, PMID:24988964, PMID:25182138, PMID:25741868, PMID:26467025, PMID:27066551, PMID:27447704, PMID:27863379, PMID:28492532, PMID:28558865, PMID:28688748, PMID:30311386, PMID:30921636, PMID:32860008, PMID:11528383 RGD:1599352 NCBI chr 5:152,748,497...152,765,489
Ensembl chr 5:152,750,284...152,762,165
JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Classic multiminicore myopathy ClinVar PMID:25741868 NCBI chr 3:63,565,160...63,837,815 JBrowse link
Ullrich congenital muscular dystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col12a1 collagen type XII alpha 1 chain ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy
CTD
ClinVar
PMID:25741868, PMID:28492532 NCBI chr 8:87,042,820...87,150,701
Ensembl chr 8:87,040,799...87,158,368
JBrowse link
G Col6a1 collagen type VI alpha 1 chain ISO ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1
ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy, autosomal dominant
ClinVar Annotator: match by OMIM:254090
OMIM
ClinVar
PMID:7695699, PMID:8218237, PMID:15689448, PMID:16130093, PMID:16935502, PMID:17785673, PMID:17785674, PMID:18642359, PMID:18825676, PMID:19344236, PMID:19564581, PMID:20882040, PMID:23572247, PMID:24038877, PMID:24801232, PMID:24959844, PMID:25741868, PMID:26467025, PMID:27708273, PMID:28182637, PMID:28492532, PMID:30564623 NCBI chr20:12,657,913...12,676,370
Ensembl chr20:12,658,065...12,675,561
JBrowse link
G Col6a2 collagen type VI alpha 2 chain ISO ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1
ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy, autosomal recessive
ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy, autosomal dominant
ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy, digenic, col6a1/col6a2
ClinVar Annotator: match by OMIM:254090
OMIM
ClinVar
PMID:7695699, PMID:8218237, PMID:11381124, PMID:11506412, PMID:12218063, PMID:15563506, PMID:15689448, PMID:16075202, PMID:16935502, PMID:19344236, PMID:19564581, PMID:20106987, PMID:20729548, PMID:22075033, PMID:23940025, PMID:24038877, PMID:25741868, PMID:26467025, PMID:28492532, PMID:32860008 NCBI chr20:12,773,472...12,801,179
Ensembl chr20:12,773,427...12,801,180
JBrowse link
G Col6a3 collagen type VI alpha 3 chain ISO ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1, autosomal dominant
ClinVar Annotator: match by term: Collagen VI-related myopathy
ClinVar Annotator: match by OMIM:254090
OMIM
ClinVar
PMID:11992252, PMID:15563506, PMID:18366090, PMID:19564581, PMID:20976770, PMID:25326635, PMID:25741868, PMID:28492532 NCBI chr 9:97,926,784...98,004,643
Ensembl chr 9:97,926,787...98,004,546
JBrowse link
ULLRICH CONGENITAL MUSCULAR DYSTROPHY 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col12a1 collagen type XII alpha 1 chain ISO ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 2 OMIM
ClinVar
PMID:7695699, PMID:8218237, PMID:8601036, PMID:10612821, PMID:19344236, PMID:24334604, PMID:24334769, PMID:25741868, PMID:27159402, PMID:27348394, PMID:28492532, PMID:28973083, PMID:29342313, PMID:224334604 NCBI chr 8:87,042,820...87,150,701
Ensembl chr 8:87,040,799...87,158,368
JBrowse link
Walker-Warburg syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aqp4 aquaporin 4 ISO RGD PMID:20680099 RGD:5148028 NCBI chr18:6,766,009...6,782,757
Ensembl chr18:6,765,945...6,782,996
JBrowse link
G B3galnt2 beta-1,3-N-acetylgalactosaminyltransferase 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr17:54,027,859...54,070,399
Ensembl chr17:54,027,859...54,070,399
JBrowse link
G B4gat1 beta-1,4-glucuronyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:220,322,854...220,325,076
Ensembl chr 1:220,416,018...220,418,240
JBrowse link
G Calm3 calmodulin 3 ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chr 1:78,844,520...78,851,628
Ensembl chr 1:78,843,080...78,851,719
JBrowse link
G Col4a1 collagen type IV alpha 1 chain ISS OMIM:236670 | OMIM:253280 MouseDO NCBI chr16:83,522,162...83,632,153
Ensembl chr16:83,522,162...83,632,153
JBrowse link
G Crppa CDP-L-ribitol pyrophosphorylase A ISO CTD Direct Evidence: marker/mechanism CTD PMID:22522420, PMID:22522421 NCBI chr 6:55,880,136...56,159,466
Ensembl chr 6:55,881,387...56,159,464
JBrowse link
G Dact3 dishevelled-binding antagonist of beta-catenin 3 ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chr 1:78,800,754...78,812,483
Ensembl chr 1:78,800,754...78,812,483
JBrowse link
G Dag1 dystroglycan 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18923033, PMID:24824861 RGD:11537405, RGD:11537406 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 DNA:missense mutation:exon:p.M1V (c.1A>G) (human)
ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy
ClinVar Annotator: match by term: Pagon syndrome
ClinVar Annotator: match by term: Muscle eye brain disease
ClinVar Annotator: match by term: Walker-Warburg syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:11592034, PMID:11741828, PMID:12471058, PMID:12654965, PMID:12666124, PMID:12707425, PMID:12707439, PMID:14647208, PMID:14652796, PMID:14742276, PMID:15060126, PMID:15121789, PMID:15574464, PMID:15580560, PMID:15833426, PMID:15833432, PMID:15886712, PMID:16344347, PMID:16368217, PMID:16476814, PMID:16634037, PMID:16786213, PMID:17055682, PMID:17113772, PMID:17336067, PMID:17446099, PMID:17554798, PMID:17559086, PMID:17952692, PMID:17994539, PMID:18036232, PMID:18060779, PMID:18160674, PMID:18414213, PMID:18593008, PMID:18639457, PMID:18671187, PMID:18691338, PMID:18752264, PMID:18832576, PMID:19155270, PMID:19299310, PMID:19820980, PMID:19835634, PMID:19900540, PMID:19917824, PMID:19955119, PMID:20623375, PMID:20961759, PMID:21220724, PMID:21228398, PMID:21293871, PMID:21296577, PMID:21816046, PMID:22264518, PMID:22908982, PMID:22981120, PMID:23420653, PMID:23576288, PMID:23591631, PMID:23757202, PMID:23800702, PMID:23894383, PMID:24033266, PMID:24257234, PMID:24447024, PMID:24556424, PMID:25048216, PMID:25135358, PMID:25560911, PMID:25741868, PMID:25987458, PMID:26320847, PMID:26363967, PMID:26436962, PMID:26467025, PMID:26574668, PMID:26833294, PMID:26923585, PMID:26990548, PMID:27142102, PMID:27363342, PMID:27439679, PMID:27671536, PMID:27848944, PMID:27854218, PMID:27884173, PMID:28112097, PMID:28454995, PMID:28492532, PMID:28629604, PMID:28688748, PMID:28931339, PMID:29065428, PMID:30003095, PMID:30311386, PMID:30564623, PMID:31041397, PMID:31671740, PMID:20236121 RGD:11667969 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: Walker-Warburg congenital muscular dystrophy
ClinVar Annotator: match by term: Muscle eye brain disease
ClinVar Annotator: match by term: Walker-Warburg syndrome
CTD Direct Evidence: marker/mechanism
DNA:missense mutation, nonsense mutation, insertions: :multiple
DNA:insertion:exon:c.1167insA (human)
ClinVar
CTD
PMID:9690476, PMID:10545611, PMID:11165248, PMID:14627679, PMID:15833426, PMID:17034757, PMID:17044012, PMID:17559086, PMID:17597323, PMID:17878207, PMID:18177472, PMID:18414213, PMID:18752264, PMID:19179078, PMID:19266496, PMID:19299310, PMID:19396839, PMID:19842201, PMID:20620061, PMID:20961758, PMID:21102627, PMID:21228398, PMID:21520333, PMID:22037554, PMID:22275357, PMID:22958903, PMID:23757202, PMID:24033266, PMID:24144914, PMID:25741868, PMID:25814170, PMID:25821721, PMID:26130484, PMID:26467025, PMID:26633542, PMID:26636822, PMID:26809617, PMID:26923585, PMID:27065010, PMID:27124789, PMID:28492532, PMID:28680109, PMID:28688748, PMID:28785732, PMID:30060766, PMID:9690476, PMID:24824861, PMID:10545611, PMID:19266496 RGD:1598929, RGD:11537406, RGD:11062579, RGD:11576320 NCBI chr 5:70,522,001...70,578,270
Ensembl chr 5:70,528,688...70,578,273
JBrowse link
G Fsd1l fibronectin type III and SPRY domain containing 1-like ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chr 5:70,441,075...70,517,131
Ensembl chr 5:70,441,123...70,511,659
JBrowse link
G Gmppb GDP-mannose pyrophosphorylase B ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:116,826,251...116,856,159
Ensembl chr 8:116,826,680...116,856,159
JBrowse link
G Gng8 G protein subunit gamma 8 ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chr 1:78,818,360...78,822,224
Ensembl chr 1:78,818,404...78,822,224
JBrowse link
G Large1 LARGE xylosyl- and glucuronyltransferase 1 ISO ClinVar Annotator: match by term: Walker-Warburg Syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
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-) ISO ClinVar Annotator: match by OMIM:253280
ClinVar Annotator: match by term: Muscle eye brain disease
CTD Direct Evidence: marker/mechanism
DNA:missense mutations:exon:p.R265H (935G>A), p.R311Q (1037G>A), p.C442R (1465C>T) (human)
DNA:missense mutations, splice-site mutations, deletions: :multiple
DNA:deletions, splice-site mutation:exon, intron:multiple
DNA:missense mutations, nonsense mutation: :multiple
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3
ClinVar
CTD
PMID:11709191, PMID:12588800, PMID:12788071, PMID:12849864, PMID:15236414, PMID:15466003, PMID:16427280, PMID:17030669, PMID:17154333, PMID:17559086, PMID:17878207, PMID:17881266, PMID:17906881, PMID:18195152, PMID:18330676, PMID:18691338, PMID:19067344, PMID:19299310, PMID:19679478, PMID:20215985, PMID:20981092, PMID:21228398, PMID:21361872, PMID:21727005, PMID:21983716, PMID:22323514, PMID:22522420, PMID:22554691, PMID:22995991, PMID:23326386, PMID:23453855, PMID:23689641, PMID:24033266, PMID:24123366, PMID:24282183, PMID:24731844, PMID:24733390, PMID:25326635, PMID:25333069, PMID:25390965, PMID:25525159, PMID:25741868, PMID:26013959, PMID:26467025, PMID:26908613, PMID:26938784, PMID:27493216, PMID:27884173, PMID:28424332, PMID:28492532, PMID:28688748, PMID:28765568, PMID:28832562, PMID:30311386, PMID:30961548, PMID:15236414, PMID:11709191, PMID:22554691, PMID:23689641 RGD:11071487, RGD:1554293, RGD:11065512, RGD:11532772 NCBI chr 5:135,007,343...135,017,220
Ensembl chr 5:135,007,343...135,017,218
JBrowse link
G Pomgnt2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) ISO CTD Direct Evidence: marker/mechanism CTD PMID:26060116 RGD:11532770 NCBI chr 8:130,615,482...130,631,144
Ensembl chr 8:130,615,711...130,617,833
JBrowse link
G Pomk protein-O-mannose kinase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr16:70,854,825...70,869,653
Ensembl chr16:70,859,280...70,869,634
JBrowse link
G Pomt1 protein-O-mannosyltransferase 1 ISO DNA:nonsense mutations, frameshift mutations, missense mutation:exon:multiple
ClinVar Annotator: match by term: Pagon syndrome
ClinVar Annotator: match by term: Walker-Warburg syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy
ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1
DNA:missense mutation, nonsense mutation:exon:p.S537R (g.1790C>G), p.Y352X (g.1233T>A) (human)
DNA:missense mutations, nonsense mutation, frameshift mutation: :multiple
ClinVar
CTD
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:24033266, PMID:24304607, PMID:24491487, PMID:25741868, PMID:26467025, PMID:28116189, PMID:28492532, PMID:30311386, PMID:32860008, PMID:12369018, PMID:15637732, PMID:16575835 RGD:731235, RGD:11073321, RGD:11532686 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 DNA:nonsense mutations, splice-site mutation:exon:p.T433X (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:15894594 RGD:11532761 NCBI chr 6:111,137,329...111,176,991
Ensembl chr 6:111,135,349...111,176,918
JBrowse link
G Prkd2 protein kinase D2 ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chr 1:78,767,911...78,796,223
Ensembl chr 1:78,767,911...78,796,231
JBrowse link
G Ptgir prostaglandin I2 receptor ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chr 1:78,833,449...78,835,832
Ensembl chr 1:78,833,157...78,837,623
JBrowse link
G Rxylt1 ribitol xylosyltransferase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy
CTD
ClinVar
PMID:23217329, PMID:24033266, PMID:28492532 NCBI chr 7:64,329,341...64,341,201
Ensembl chr 7:64,326,465...64,341,207
JBrowse link
G Strn4 striatin 4 ISO ClinVar Annotator: match by term: Walker-Warburg congenital muscular dystrophy ClinVar PMID:28492532 NCBI chr 1:78,739,930...78,765,696
Ensembl chr 1:78,735,678...78,765,692
JBrowse link
G Tspan1 tetraspanin 1 ISO ClinVar Annotator: match by term: Muscle eye brain disease
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:17154333, PMID:17559086, PMID:17878207, PMID:17881266, PMID:17906881, PMID:18195152, PMID:18330676, PMID:18691338, PMID:19067344, PMID:19299310, PMID:19679478, PMID:20215985, PMID:20981092, PMID:21228398, PMID:21361872, PMID:21727005, PMID:21983716, PMID:22323514, PMID:22522420, PMID:22554691, PMID:22995991, PMID:23326386, PMID:23453855, PMID:23689641, PMID:24033266, PMID:24123366, PMID:24282183, PMID:24731844, PMID:24733390, PMID:25326635, PMID:25333069, PMID:25390965, PMID:25525159, PMID:25741868, PMID:26013959, PMID:26467025, PMID:26908613, PMID:26938784, PMID:27493216, PMID:27884173, PMID:28424332, PMID:28492532, PMID:28688748, PMID:28765568, PMID:28832562, PMID:30311386, PMID:30961548 NCBI chr 5:135,019,206...135,032,412
Ensembl chr 5:135,019,778...135,025,084
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8354
        genetic disease 7859
          congenital muscular dystrophy 69
            Bethlem myopathy + 7
            Congenital Muscular Dystrophy associated with Calf Hypertrophy, Microcephaly, and Severe Mental Retardation 0
            Congenital Muscular Dystrophy plus Mental Retardation 0
            Congenital Muscular Dystrophy with Cerebellar Atrophy 0
            Congenital Muscular Dystrophy with Rapid Progression 0
            Congenital Muscular Dystrophy with Severe Central Nervous System Atrophy and Absence of Large Myelinated Fibers 0
            Congenital Muscular Dystrophy, Davignon-Chauveau Type 1
            Ullrich congenital muscular dystrophy + 4
            Walker-Warburg syndrome + 33
            arthrogryposis due to muscular dystrophy 1
            congenital merosin-deficient muscular dystrophy 1A + 3
            congenital muscular dystrophy 1B 0
            congenital muscular dystrophy due to LMNA mutation 1
            congenital muscular dystrophy due to integrin alpha-7 deficiency 2
            congenital muscular dystrophy merosin-positive 0
            congenital muscular dystrophy with cataracts and intellectual disability 1
            megaconial type congenital muscular dystrophy 1
            muscular dystrophy-dystroglycanopathy + 38
            rigid spine muscular dystrophy 1 4
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        peripheral nervous system disease 2475
          neuropathy 2296
            neuromuscular disease 1777
              muscular disease 1199
                muscle tissue disease 811
                  myopathy 668
                    muscular dystrophy 327
                      congenital muscular dystrophy 69
                        Bethlem myopathy + 7
                        Congenital Muscular Dystrophy associated with Calf Hypertrophy, Microcephaly, and Severe Mental Retardation 0
                        Congenital Muscular Dystrophy plus Mental Retardation 0
                        Congenital Muscular Dystrophy with Cerebellar Atrophy 0
                        Congenital Muscular Dystrophy with Rapid Progression 0
                        Congenital Muscular Dystrophy with Severe Central Nervous System Atrophy and Absence of Large Myelinated Fibers 0
                        Congenital Muscular Dystrophy, Davignon-Chauveau Type 1
                        Ullrich congenital muscular dystrophy + 4
                        Walker-Warburg syndrome + 33
                        arthrogryposis due to muscular dystrophy 1
                        congenital merosin-deficient muscular dystrophy 1A + 3
                        congenital muscular dystrophy 1B 0
                        congenital muscular dystrophy due to LMNA mutation 1
                        congenital muscular dystrophy due to integrin alpha-7 deficiency 2
                        congenital muscular dystrophy merosin-positive 0
                        congenital muscular dystrophy with cataracts and intellectual disability 1
                        megaconial type congenital muscular dystrophy 1
                        muscular dystrophy-dystroglycanopathy + 38
                        rigid spine muscular dystrophy 1 4
paths to the root

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