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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:Ullrich congenital muscular dystrophy 1A
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Accession:DOID:0060946 term browser browse the term
Definition:An Ullrich congenital muscular dystrophy characterized by generalized muscle weakness and striking hypermobility of distal joints in conjunction with variable contractures of more proximal joints and normal intelligence that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the COL6A1 gene on chromosome 21q22. (DO)
Synonyms:exact_synonym: UCMD1A
 narrow_synonym: ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, AUTOSOMAL DOMINANT
 broad_synonym: COL6A1-RELATED CONDITION
 related_synonym: UCMD1;   UCMD1A/1B, DIGENIC;   ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1A/1B, DIGENIC;   Ullrich congenital muscular dystrophy 1
 alt_id: DOID:9000534
 xref: MIM:254090;   MONDO:0009681



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Ullrich congenital muscular dystrophy 1A term browser
Symbol Object Name 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 1A ClinVar PMID:16199547 PMID:24334604 PMID:28492532 PMID:28973083 NCBI chr12:36,720,686...36,838,321
Ensembl chr12:36,646,408...36,838,622
JBrowse link
G 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 More... NCBI chr31:39,301,718...39,319,895
Ensembl chr31:39,301,748...39,448,062
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 1A ClinVar PMID:7695699 PMID:8218237 PMID:15689448 PMID:16199547 PMID:18366090 More... NCBI chr31:39,433,174...39,448,051 JBrowse link
G 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 More... NCBI chr25:47,971,439...48,052,673
Ensembl chr25:47,971,315...48,052,402
JBrowse link
G FTCD formimidoyltransferase cyclodeaminase ISO ClinVar Annotator: match by term: Ullrich congenital muscular dystrophy 1A ClinVar PMID:24801232 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr31:39,451,557...39,464,249
Ensembl chr31:39,275,159...39,464,715
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15753
    Pathological Conditions, Signs and Symptoms 12322
      Pathologic Processes 7816
        Sclerosis 20
          Ullrich congenital muscular dystrophy 11
            Ullrich congenital muscular dystrophy 1A 5
Path 2
Term Annotations click to browse term
  disease 15753
    disease of anatomical entity 15374
      nervous system disease 13501
        peripheral nervous system disease 4303
          neuropathy 4110
            neuromuscular disease 3177
              muscular disease 2211
                muscle tissue disease 1348
                  atrophic muscular disease 673
                    Brody myopathy 669
                      muscular dystrophy 654
                        congenital muscular dystrophy 212
                          Collagen VI-related Myopathy 68
                            Ullrich congenital muscular dystrophy 11
                              Ullrich congenital muscular dystrophy 1A 5
paths to the root