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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:DYSOSTOSIS MULTIPLEX, AIN-NAZ TYPE
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Accession:DOID:9005886 term browser browse the term
Definition:This disease is a severe progressive skeletal dysplasia with features of a metabolic disorder. Patients exhibit marked short stature, coarse facies with broad nose and prominent lips, and a distended abdomen, and experience severe physical disability.
Synonyms:exact_synonym: Ain-Naz type of dysostosis multiplex;   DMAN
 primary_id: MIM:619345


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DYSOSTOSIS MULTIPLEX, AIN-NAZ TYPE term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lyset lysosomal enzyme trafficking factor ISO ClinVar Annotator: match by term: Dysostosis multiplex, Ain-Naz type OMIM
ClinVar		 PMID:25741868 PMID:33252156 PMID:36074821 NCBI chr 6:127,649,401...127,651,143
Ensembl chr 6:127,649,450...127,652,661 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14566
    Developmental Disease 8303
      bone development disease 1148
        dysostosis 301
          DYSOSTOSIS MULTIPLEX, AIN-NAZ TYPE 1
Path 2
Term Annotations click to browse term
  disease 14566
    disease of anatomical entity 13676
      musculoskeletal system disease 4517
        connective tissue disease 3414
          bone disease 2876
            bone development disease 1148
              dysostosis 301
                DYSOSTOSIS MULTIPLEX, AIN-NAZ TYPE 1
paths to the root