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: autosomal recessive limb-girdle muscular dystrophy type 2D
Accession: DOID:0110278
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Definition: An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the alpha-sarcoglycan gene (SGCA) on chromosome 17q. (DO)
Synonyms: exact_synonym: DMDA2; Duchenne-like autosomal recessive muscular dystrophy type 2; LGMD2D; LGMDR3; adhalinopathies; alpha-sarcoglycanopathies; alpha-sarcoglycanopathy; limb girdle muscular dystrophy with alpha sarcoglycan deficiency; limb girdle muscular dystrophy, type 2D; limb-girdle muscular dystrophy, autosomal recessive 3; primary adhalinopathies; primary adhalinopathy; sarcoglycanopathies; sarcoglycanopathy
xref: MESH:D058088 ; MIM:608099 ; MONDO:0011968 ; NCI:C142081 ; ORDO:62
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Col1a1
collagen type I alpha 1 chain
ISO
ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2D
ClinVar
PMID:25106685 PMID:28492532
NCBI chr10:80,380,458...80,397,461
Ensembl chr10:79,883,622...79,900,624
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Dag1
dystroglycan 1
ISO
protein:increased degradation:skeletal muscle
RGD
PMID:15833425
RGD:11073211
NCBI chr 8:117,769,517...117,834,347
Ensembl chr 8:108,890,929...108,952,325
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Sacs
sacsin molecular chaperone
ISO
ClinVar Annotator: match by term: Sarcoglycanopathy
ClinVar
PMID:18414213 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr15:39,461,853...39,546,419
Ensembl chr15:35,285,782...35,370,335
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Sgca
sarcoglycan, alpha
treatment
ISO ISS
ClinVar Annotator: match by term: ADHALINOPATHY, PRIMARY | ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2D | ClinVar Annotator: match by term: Duchenne-like autosomal recessive muscular dystrophy, type 2 | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 3 | ClinVar Annotator: match by term: Sarcoglycanopathy OMIM:608099 CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD RGD
PMID:7657792 PMID:7663524 PMID:7668821 PMID:8069911 PMID:8528203 PMID:8866424 PMID:9032047 PMID:9153448 PMID:9192266 PMID:9266733 PMID:9393893 PMID:9455986 PMID:9536098 PMID:9585331 PMID:10385046 PMID:10842281 PMID:10942431 PMID:10993494 PMID:11121445 PMID:11475588 PMID:11693784 PMID:12075495 PMID:12566530 PMID:12746421 PMID:14595658 PMID:15298081 PMID:15736300 PMID:15833425 PMID:16199547 PMID:16616845 PMID:16633953 PMID:16778590 PMID:16787395 PMID:17562833 PMID:17576681 PMID:17994539 PMID:18252745 PMID:18285821 PMID:18414213 PMID:18421900 PMID:18535179 PMID:18996010 PMID:19770540 PMID:19781108 PMID:19798725 PMID:19835634 PMID:20623375 PMID:21031578 PMID:21856579 PMID:22095924 PMID:22303798 PMID:24033266 PMID:24464767 PMID:24565866 PMID:24742800 PMID:25046369 PMID:25106685 PMID:25135358 PMID:25214167 PMID:25741868 PMID:25802880 PMID:25898921 PMID:26404900 PMID:26453141 PMID:26467025 PMID:26916285 PMID:26934379 PMID:26944168 PMID:27066551 PMID:27120200 PMID:27363342 PMID:27671536 PMID:27906075 PMID:28403181 PMID:28492532 PMID:28687063 PMID:29351619 PMID:29382405 PMID:29970176 PMID:30107846 PMID:30218921 PMID:30345904 PMID:30564623 PMID:30703231 PMID:30764848 PMID:30838351 PMID:30919934 PMID:31061434 PMID:31066050 PMID:31069529 PMID:31127727 PMID:31130284 PMID:31268554 PMID:31407473 PMID:31517061 PMID:31791368 PMID:31847883 PMID:31931849 PMID:32140910 PMID:32382396 PMID:32528171 PMID:32875335 PMID:33386810 PMID:33552634 PMID:33726816 PMID:33848270 PMID:34426522 PMID:34602496 PMID:35239206 PMID:35416532 PMID:35948506 PMID:37273706 PMID:17653106 More...
RGD:13605612
NCBI chr10:80,397,158...80,416,165
Ensembl chr10:79,908,738...79,922,813
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Sgcg
sarcoglycan, gamma
ISO
ClinVar Annotator: match by term: Sarcoglycanopathy
ClinVar
PMID:18414213 PMID:24033266 PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr15:39,564,920...39,611,149
Ensembl chr15:35,386,534...35,435,148
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Tuba1a
tubulin, alpha 1A
ISO
ClinVar Annotator: match by term: Autosomal recessive limb-girdle muscular dystrophy type 2D
ClinVar
PMID:17584854 PMID:18414213 PMID:18728072 PMID:20466733 PMID:25741868 PMID:28492532 PMID:29671837 PMID:30517687 PMID:30744660 More...
NCBI chr 7:131,992,151...131,996,850
Ensembl chr 7:130,081,032...130,196,186
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