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: Ullrich congenital muscular dystrophy
Accession: DOID:0050558
browse the term
Definition: A congenital muscular dystrophy that is characterized by congenital weakness, hypotonia, proximal joint contractures, marked hyperlaxity of the distal joints, with a loss of ambulation (if achieved) and uniform respiratory insufficiency during childhood that has_material_basis_in mutations in COL6A1, COL6A2 and COL6A3 genes. (DO)
Synonyms: exact_synonym: UCMD; Ullrich disease; Ullrich scleroatonic muscular dystrophy; late onset scleroatonic familial myopathy; muscular dystrophy, Ullrich type; scleroatonic muscular dystrophy
narrow_synonym: Ullrich congenital muscular dystrophy, autosomal dominant; Ullrich congenital muscular dystrophy, autosomal recessive; Ullrich congenital muscular dystrophy, digenic, COL6A1/COL6A2
broad_synonym: COL6A1-RELATED DISORDER
xref: GARD:4769 ; MESH:C537521 ; MONDO:0000355 ; NCI:C123438 ; OMIA:001967; OMIM:PS254090 ; ORDO:75840
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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 8:80,547,592...80,665,665
Ensembl chr 8:80,547,593...80,665,686
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Col6a1
collagen type VI alpha 1 chain
ISO ISS
CTD Direct Evidence: marker/mechanism OMIM:254090 ClinVar Annotator: match by term: COL6A1-related Disorder
CTD MouseDO ClinVar
NCBI chr20:11,906,105...11,924,599
Ensembl chr20:11,905,957...11,924,597
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Col6a3
collagen type VI alpha 3 chain
ISS
OMIM:254090
MouseDO
NCBI chr 9:91,361,578...91,439,434
Ensembl chr 9:91,361,583...91,439,471
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Col12a1
collagen type XII alpha 1 chain
ISO
ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1A
ClinVar
PMID:16199547 PMID:24334604 PMID:28492532 PMID:28973083
NCBI chr 8:80,547,592...80,665,665
Ensembl chr 8:80,547,593...80,665,686
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Col6a1
collagen type VI alpha 1 chain
ISO
ClinVar Annotator: match by term: COL6A1-related condition | ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1 | ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1A
OMIM ClinVar
PMID:7551830 PMID:7695699 PMID:8218237 PMID:8730294 PMID:9724608 PMID:11865138 PMID:15689448 PMID:15955946 PMID:16088929 PMID:16130093 PMID:16199547 PMID:16935502 PMID:17015493 PMID:17785673 PMID:17785674 PMID:17886299 PMID:18160674 PMID:18366090 PMID:18414213 PMID:18642359 PMID:18825676 PMID:19204719 PMID:19344236 PMID:19564581 PMID:19884007 PMID:20301676 PMID:20576434 PMID:20882040 PMID:20976770 PMID:21280092 PMID:22075033 PMID:22789865 PMID:22975586 PMID:23572247 PMID:24038877 PMID:24223098 PMID:24801232 PMID:24959844 PMID:25204870 PMID:25535305 PMID:25741868 PMID:26436962 PMID:26467025 PMID:26867126 PMID:27363342 PMID:27447704 PMID:27708273 PMID:27854213 PMID:27854218 PMID:28182637 PMID:28424332 PMID:28492532 PMID:30895940 PMID:32154989 PMID:34008892 PMID:34167565 More...
NCBI chr20:11,906,105...11,924,599
Ensembl chr20:11,905,957...11,924,597
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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 1A
ClinVar
PMID:15689448 PMID:16199547 PMID:17886299 PMID:18366090 PMID:18414213 PMID:19309692 PMID:19884007 PMID:20576434 PMID:20729548 PMID:20976770 PMID:20981092 PMID:21280092 PMID:23040494 PMID:23757202 PMID:24033266 PMID:24271325 PMID:24314752 PMID:24801232 PMID:25535305 PMID:25741868 PMID:26467025 PMID:27447704 PMID:27854218 PMID:28492532 PMID:29419890 PMID:30467950 PMID:30564623 PMID:31127727 PMID:32528171 PMID:32860008 PMID:33481221 PMID:33537799 PMID:34167565 More...
NCBI chr20:12,021,676...12,049,425
Ensembl chr20:12,021,767...12,057,564
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Col6a3
collagen type VI alpha 3 chain
ISO
ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1 | ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1A
ClinVar
PMID:3564626 PMID:7695699 PMID:8218237 PMID:9536098 PMID:11992252 PMID:15563506 PMID:15689448 PMID:16199547 PMID:17576681 PMID:17886299 PMID:18366090 PMID:18378883 PMID:18414213 PMID:19344236 PMID:19564581 PMID:20301676 PMID:20976770 PMID:20981092 PMID:21280092 PMID:23040494 PMID:23572247 PMID:24038877 PMID:24271325 PMID:24518369 PMID:25326635 PMID:25635128 PMID:25741868 PMID:26004199 PMID:26436962 PMID:26467025 PMID:28492532 PMID:29419890 PMID:29970176 PMID:30564623 PMID:31044083 PMID:31345219 PMID:32528171 PMID:34167565 PMID:34720847 PMID:35723357 More...
NCBI chr 9:91,361,578...91,439,434
Ensembl chr 9:91,361,583...91,439,471
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Ftcd
formimidoyltransferase cyclodeaminase
ISO
ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1A
ClinVar
PMID:24801232 PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr20:12,055,203...12,068,717
Ensembl chr20:12,055,208...12,068,735
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Col6a2
collagen type VI alpha 2 chain
ISO
ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1B
OMIM ClinVar
PMID:7695699 PMID:8218237 PMID:11381124 PMID:11506412 PMID:12218063 PMID:15563506 PMID:15689448 PMID:16075202 PMID:16935502 PMID:19309692 PMID:19344236 PMID:19564581 PMID:19884007 PMID:20106987 PMID:20301676 PMID:20576434 PMID:20729548 PMID:20976770 PMID:21280092 PMID:22075033 PMID:23326386 PMID:23940025 PMID:24033266 PMID:24038877 PMID:24314752 PMID:25535305 PMID:25741868 PMID:26467025 PMID:27447704 PMID:28492532 PMID:29419890 PMID:34167565 More...
NCBI chr20:12,021,676...12,049,425
Ensembl chr20:12,021,767...12,057,564
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Col6a3
collagen type VI alpha 3 chain
ISO
ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1C
OMIM ClinVar
PMID:9536098 PMID:11992252 PMID:15563506 PMID:16199547 PMID:17576681 PMID:18366090 PMID:19564581 PMID:20301676 PMID:20976770 PMID:21280092 PMID:24271325 PMID:24518369 PMID:25326635 PMID:25741868 PMID:28492532 PMID:29419890 PMID:35723357 More...
NCBI chr 9:91,361,578...91,439,434
Ensembl chr 9:91,361,583...91,439,471
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Col12a1
collagen type XII alpha 1 chain
ISO
ClinVar Annotator: match by term: COL12A1- Related Disorder | ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 2
OMIM ClinVar
PMID:7695699 PMID:8218237 PMID:8601036 PMID:9536098 PMID:10612821 PMID:16199547 PMID:17576681 PMID:19344236 PMID:24334604 PMID:24334769 PMID:25741868 PMID:27159402 PMID:27348394 PMID:28492532 PMID:28973083 PMID:29342313 PMID:29858556 PMID:31127727 PMID:31273343 PMID:33146414 PMID:35903967 PMID:224334604 More...
NCBI chr 8:80,547,592...80,665,665
Ensembl chr 8:80,547,593...80,665,686
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