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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:RHIZOMELIC DYSPLASIA, AIN-NAZ TYPE
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Accession:DOID:9001924 term browser browse the term
Definition:This disease is characterized by severe short stature with marked rhizomelic shortening of the limbs, platyspondyly, and large hands and feet relative to height.
Synonyms:exact_synonym: Ain-Naz type of rhizomelic dysplasia;   RHZDAN
 primary_id: OMIM:619598
For additional species annotation, visit the Alliance of Genome Resources.



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RHIZOMELIC DYSPLASIA, AIN-NAZ TYPE term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gnpnat1 glucosamine-phosphate N-acetyltransferase 1 ISO ClinVar Annotator: match by term: RHIZOMELIC DYSPLASIA, AIN-NAZ TYPE ClinVar PMID:32591345 NCBI chr15:18,596,180...18,608,854
Ensembl chr15:18,596,442...18,608,739
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18133
    Developmental Disease 12879
      bone development disease 1810
        RHIZOMELIC DYSPLASIA, AIN-NAZ TYPE 1
Path 2
Term Annotations click to browse term
  disease 18133
    disease of anatomical entity 17503
      musculoskeletal system disease 7179
        connective tissue disease 4971
          bone disease 3636
            bone development disease 1810
              RHIZOMELIC DYSPLASIA, AIN-NAZ TYPE 1
paths to the root