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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: MIM:619127


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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 | ClinVar Annotator: match by term: Progeroid mandibuloacral dysplasia OMIM
ClinVar		 PMID:25741868 PMID:32917887 NCBI chr 3:59,730,206...59,792,202
Ensembl chr 3:59,730,197...59,792,201 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19134
    Diseases of the Aged 1476
      Premature Aging 72
        progeria 20
          Mandibuloacral Dysplasia Progeroid Syndrome 1
Path 2
Term Annotations click to browse term
  disease 19134
    Developmental Disease 14661
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13710
        genetic disease 13375
          monogenic disease 10925
            autosomal genetic disease 10413
              autosomal dominant disease 6762
                progeria 20
                  Mandibuloacral Dysplasia Progeroid Syndrome 1
paths to the root