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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:MORIMOTO-RYU-MALICDAN NEUROMUSCULAR SYNDROME
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Accession:DOID:9009267 term browser browse the term
Definition:This disease is characterized by incoordination and muscle weakness, hearing impairment, and decreased body weight.
Synonyms:exact_synonym: MRMNS
 primary_id: MIM:621010



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MORIMOTO-RYU-MALICDAN NEUROMUSCULAR SYNDROME term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rfc4 replication factor C subunit 4 ISO ClinVar Annotator: match by term: MORIMOTO-RYU-MALICDAN NEUROMUSCULAR SYNDROME OMIM
ClinVar
PMID:39106866 NCBI chr11:91,254,273...91,268,727
Ensembl chr11:77,749,638...77,764,122
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19141
    syndrome 11372
      MORIMOTO-RYU-MALICDAN NEUROMUSCULAR SYNDROME 1
Path 2
Term Annotations click to browse term
  disease 19141
    disease of anatomical entity 18453
      nervous system disease 14360
        peripheral nervous system disease 4383
          neuropathy 4171
            neuromuscular disease 3219
              MORIMOTO-RYU-MALICDAN NEUROMUSCULAR SYNDROME 1
paths to the root