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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: OMIM:619345
For additional species annotation, visit the Alliance of Genome Resources.



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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 Tmem251 transmembrane protein 251 ISO ClinVar Annotator: match by term: DYSOSTOSIS MULTIPLEX, AIN-NAZ TYPE ClinVar
OMIM
PMID:33252156 NCBI chr 6:121,884,554...121,886,710
Ensembl chr 6:121,884,643...121,886,275
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17445
    Developmental Disease 11029
      bone development disease 1423
        dysostosis 390
          DYSOSTOSIS MULTIPLEX, AIN-NAZ TYPE 1
Path 2
Term Annotations click to browse term
  disease 17445
    disease of anatomical entity 16777
      musculoskeletal system disease 6486
        connective tissue disease 4452
          bone disease 3125
            bone development disease 1423
              dysostosis 390
                DYSOSTOSIS MULTIPLEX, AIN-NAZ TYPE 1
paths to the root