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myofibrillar myopathy 4 - Ontology Report - Rat Genome Database

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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:myofibrillar myopathy 4
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Accession:DOID:0080095 term browser browse the term
Definition:A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the ZASP gene on chromosome 10. (DO)
Synonyms:exact_synonym: MARKESBERY-GRIGGS DISTAL MYOPATHY;   MFM4;   zaspopathy
 broad_synonym: LDB3-RELATED CONDITION
 primary_id: MIM:609452

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myofibrillar myopathy 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmpr1a bone morphogenetic protein receptor type 1A ISO ClinVar Annotator: match by term: Myofibrillar myopathy 4 ClinVar PMID:28492532 NCBI chr16:9,740,751...9,786,861
Ensembl chr16:9,736,630...9,780,616 		JBrowse link
G Ldb3 LIM domain binding 3 ISO ClinVar Annotator: match by term: Myofibrillar myopathy 4 OMIM
ClinVar		 PMID:4855680 PMID:9536098 PMID:11696561 PMID:14660611 PMID:14662268 More... NCBI chr16:9,862,161...9,926,338
Ensembl chr16:9,855,927...9,918,532 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19140
    physical disorder 5202
      congenital structural myopathy 144
        myofibrillar myopathy 67
          myofibrillar myopathy 4 2
Path 2
Term Annotations click to browse term
  disease 19140
    disease of anatomical entity 18453
      nervous system disease 14363
        peripheral nervous system disease 4397
          neuropathy 4185
            neuromuscular disease 3226
              muscular disease 2233
                muscle tissue disease 1357
                  myopathy 1049
                    congenital myopathy 252
                      congenital structural myopathy 144
                        myofibrillar myopathy 67
                          myofibrillar myopathy 4 2
paths to the root