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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:muscular dystrophy-dystroglycanopathy type B3
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Accession:DOID:0112378 term browser browse the term
Definition:A muscular dystrophy-dystroglycanopathy type B that has_material_basis_in homozygous or compound heterozygous mutation in POMGNT1 on chromosome 1p34.1. (DO)
Synonyms:exact_synonym: MDDGB3;   Muscular Dystrophy-Dystroglycanopathy (congenital with mental retardation), Type B, 3;   congenital muscular dystrophy, POMGNT1-related;   congenital muscular dystrophy-dystroglycanopathy with impaired intellectual development, type B3
 primary_id: OMIM:613151
 alt_id: DOID:9008630
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
muscular dystrophy-dystroglycanopathy type B3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pomgnt1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) ISO ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, CONGENITAL, POMGNT1-RELATED OMIM
ClinVar
PMID:9536098 PMID:11709191 PMID:12588800 PMID:15236414 PMID:15466003 More... NCBI chr 5:129,634,274...129,644,150
Ensembl chr 5:129,634,294...129,644,149
JBrowse link
G Tspan1 tetraspanin 1 ISO ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, CONGENITAL, POMGNT1-RELATED ClinVar PMID:9536098 PMID:11709191 PMID:12588800 PMID:15236414 PMID:15466003 More... NCBI chr 5:129,646,139...129,659,383
Ensembl chr 5:129,646,993...129,652,017
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18154
    Developmental Disease 12988
      Neurodevelopmental Disorders 6187
        intellectual disability 3972
          muscular dystrophy-dystroglycanopathy type B3 2
Path 2
Term Annotations click to browse term
  disease 18154
    disease of anatomical entity 17529
      nervous system disease 13192
        peripheral nervous system disease 3019
          neuropathy 2805
            neuromuscular disease 2223
              muscular disease 1453
                muscle tissue disease 950
                  myopathy 779
                    muscular dystrophy 420
                      congenital muscular dystrophy 116
                        muscular dystrophy-dystroglycanopathy 69
                          muscular dystrophy-dystroglycanopathy type B 19
                            muscular dystrophy-dystroglycanopathy type B3 2
paths to the root