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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:Mandibuloacral Dysplasia Progeroid Syndrome
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Accession:DOID:9007744 term browser browse the term
Synonyms:exact_synonym: MDPS;   PROGEROID MANDIBULOACRAL DYSPLASIA
 primary_id: OMIM:619127
For additional species annotation, visit the Alliance of Genome Resources.


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Mandibuloacral Dysplasia Progeroid Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mtx2 metaxin 2 ISO ClinVar Annotator: match by term: MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME OMIM
ClinVar
PMID:32917887 NCBI chr 3:61,756,109...61,818,999
Ensembl chr 3:61,756,148...61,818,998
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16929
    syndrome 7653
      progeria 19
        Mandibuloacral Dysplasia Progeroid Syndrome 1
Path 2
Term Annotations click to browse term
  disease 16929
    Developmental Disease 10581
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8889
        genetic disease 8402
          monogenic disease 6348
            autosomal genetic disease 5501
              progeria 19
                Mandibuloacral Dysplasia Progeroid Syndrome 1
paths to the root