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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:LAMA5-RELATED MULTISYSTEMIC SYNDROME
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Accession:DOID:9009266 term browser browse the term
Definition:This disease is a rare genetic systemic or rheumatologic disease characterized by infantile onset of skin anomalies (such as delayed wound healing with atrophic scars and mild alopecia with dry and brittle hair), retinal rod degeneration with night blindness, degenerative myopathy with muscle weakness, myalgia, and cramps, osteoarthritis, joint laxity, prolapse of internal organs, floating kidney syndrome, malabsorption syndrome, and hypothyroidism. The phenotype has been reported to be more severe in women than in men.
Synonyms:xref: ICD-10:M79.8;   MONDO:0033856;   PMID:28735299


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LAMA5-RELATED MULTISYSTEMIC SYNDROME term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lama5 laminin subunit alpha 5 ISO ClinVar Annotator: match by term: LAMA5-related multisystemic syndrome ClinVar PMID:24130771 PMID:25741868 PMID:29377152 PMID:29534211 NCBI chr 3:167,270,296...167,318,370
Ensembl chr 3:167,270,296...167,318,451 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19141
    syndrome 11372
      LAMA5-RELATED MULTISYSTEMIC SYNDROME 1
Path 2
Term Annotations click to browse term
  disease 19141
    disease of anatomical entity 18453
      Immune & Inflammatory Diseases 5752
        immune system disease 5031
          primary immunodeficiency disease 4432
            autoimmune disease 2369
              autoimmune disease of musculoskeletal system 1003
                rheumatic disease 788
                  LAMA5-RELATED MULTISYSTEMIC SYNDROME 1
paths to the root