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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:fatal infantile hypertonic myofibrillar myopathy
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Accession:DOID:0080309 term browser browse the term
Definition:A myofibrillar myopathy that has_material_basis_in homozygous mutation in the CRYAB gene on chromosome 11q23. (DO)
Synonyms:exact_synonym: MFM, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related;   alpha-b crystalin-related fatal infantile hypertonic myofibrillar myopathy
 primary_id: OMIM:613869
For additional species annotation, visit the Alliance of Genome Resources.


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fatal infantile hypertonic myofibrillar myopathy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cryab crystallin, alpha B ISO ClinVar Annotator: match by term: Fatal infantile hypertonic myofibrillar myopathy OMIM
ClinVar
PMID:1560021 PMID:11013455 PMID:16483541 PMID:16793013 PMID:17116488 PMID:20171888 PMID:21920752 PMID:22106715 PMID:22995991 PMID:23194663 PMID:23299917 PMID:24033266 PMID:25073507 PMID:25208129 PMID:25741868 PMID:26265630 PMID:26467025 PMID:26694549 PMID:26961874 PMID:28492532 PMID:28690483 PMID:28798025 NCBI chr 8:55,178,543...55,182,546
Ensembl chr 8:55,178,289...55,182,545
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    physical disorder 2526
      congenital structural myopathy 151
        myofibrillar myopathy 56
          fatal infantile hypertonic myofibrillar myopathy 1
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      nervous system disease 10967
        peripheral nervous system disease 2498
          neuropathy 2319
            neuromuscular disease 1802
              muscular disease 1218
                muscle tissue disease 829
                  myopathy 683
                    congenital structural myopathy 151
                      myofibrillar myopathy 56
                        fatal infantile hypertonic myofibrillar myopathy 1
paths to the root