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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-dystroglycanopathy A7
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Accession:DOID:0111234 term browser browse the term
Definition:A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in ISPD on 7p21.2-p21.1. (DO)
Synonyms:exact_synonym: MDDGA7;   Walker-Warburg syndrome or muscle-eye-brain disease, ISPD-related;   congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7;   muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
 broad_synonym: ISPD-related disorder
 primary_id: OMIM:614643
For additional species annotation, visit the Alliance of Genome Resources.


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congenital muscular dystrophy-dystroglycanopathy A7 term browser
Symbol Object Name 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 7:17,255,793...17,301,997
Ensembl chr 7:16,581,308...16,628,359
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 7:17,302,322...17,362,737
Ensembl chr 7:16,628,679...16,688,982
JBrowse link
G CRPPA CDP-L-ribitol pyrophosphorylase A ISO OMIM NCBI chr 7:16,747,569...17,078,389
Ensembl chr 7:16,077,091...16,405,220
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 7:17,180,011...17,238,810
Ensembl chr 7:16,507,468...16,564,320
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 7:17,116,828...17,121,142
Ensembl chr 7:16,443,703...16,448,076
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12821
    syndrome 6221
      Walker-Warburg syndrome 33
        congenital muscular dystrophy-dystroglycanopathy type A 24
          congenital muscular dystrophy-dystroglycanopathy A7 5
Path 2
Term Annotations click to browse term
  disease 12821
    disease of anatomical entity 12353
      nervous system disease 10088
        peripheral nervous system disease 2301
          neuropathy 2140
            neuromuscular disease 1686
              muscular disease 1104
                muscle tissue disease 739
                  atrophic muscular disease 290
                    muscular dystrophy 288
                      congenital muscular dystrophy 70
                        muscular dystrophy-dystroglycanopathy 37
                          congenital muscular dystrophy-dystroglycanopathy type A 24
                            congenital muscular dystrophy-dystroglycanopathy A7 5
paths to the root