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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


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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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Fatal infantile hypertonic myofibrillar myopathy | ClinVar Annotator: match by term: MFM, FATAL INFANTILE HYPERTONIC, ALPHA-B CRYSTALLIN-RELATED		 OMIM
CTD
ClinVar		 PMID:1560021 PMID:2299599 PMID:11013455 PMID:16483541 PMID:16793013 More... NCBI chr 8:51,093,441...51,099,161
Ensembl chr 8:51,093,441...51,099,157 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    physical disorder 4965
      congenital structural myopathy 132
        myofibrillar myopathy 63
          fatal infantile hypertonic myofibrillar myopathy 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        peripheral nervous system disease 4124
          neuropathy 3907
            neuromuscular disease 3059
              muscular disease 2148
                muscle tissue disease 1294
                  myopathy 1008
                    congenital myopathy 239
                      congenital structural myopathy 132
                        myofibrillar myopathy 63
                          fatal infantile hypertonic myofibrillar myopathy 1
paths to the root