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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: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 16058
    Developmental Diseases 9508
      congenital structural myopathy 140
        myofibrillar myopathy 54
          fatal infantile hypertonic myofibrillar myopathy 1
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        peripheral nervous system disease 2475
          neuropathy 2296
            neuromuscular disease 1777
              muscular disease 1199
                muscle tissue disease 811
                  myopathy 668
                    congenital structural myopathy 140
                      myofibrillar myopathy 54
                        fatal infantile hypertonic myofibrillar myopathy 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.