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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 with Type A Lipodystrophy
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Accession:DOID:9003444 term browser browse the term
Synonyms:exact_synonym: Craniomandibular Dermatodysostosis;   Lipodystrophy, type A, associated with mandibuloacral dysplasia;   MADA;   Mandibuloacral Dysplasia with Type A Lipodystrophy, Atypical
 narrow_synonym: CRANIOMANDIBULAR DERMATODYSOSTOSIS MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY, ATYPICAL;   MANDIBULOACRAL DYSOSTOSIS
 primary_id: MESH:C535705
 alt_id: OMIM:248370;   RDO:0000970
 xref: NCI:C123417
For additional species annotation, visit the Alliance of Genome Resources.


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Mandibuloacral Dysplasia with Type A Lipodystrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmna lamin A/C ISO OMIM NCBI chrNW_004955545:2,290,076...2,310,982
Ensembl chrNW_004955545:2,290,037...2,313,033
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18554282 NCBI chrNW_004955445:11,295,500...11,303,322
Ensembl chrNW_004955445:11,295,448...11,303,288
JBrowse link
G Zmpste24 zinc metallopeptidase STE24 ISO ClinVar Annotator: match by term: Mandibuloacral dysostosis ClinVar NCBI chrNW_004955537:82,724...134,609
Ensembl chrNW_004955537:81,920...134,609
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12528
    Developmental Disease 9322
      bone development disease 1274
        Acro-Osteolysis 8
          Mandibuloacral Dysplasia with Type A Lipodystrophy 3
Path 2
Term Annotations click to browse term
  disease 12528
    disease of anatomical entity 12209
      musculoskeletal system disease 5368
        connective tissue disease 3596
          bone disease 2449
            bone remodeling disease 216
              bone resorption disease 150
                Osteolysis 23
                  Acro-Osteolysis 8
                    Mandibuloacral Dysplasia with Type A Lipodystrophy 3
paths to the root