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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 chr 7:41,702,491...41,719,870
Ensembl chr 7:41,508,450...41,746,931
JBrowse link
G MMP9 matrix metallopeptidase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18554282 NCBI chr24:33,274,260...33,281,116
Ensembl chr24:33,274,268...33,281,293
JBrowse link
G ZMPSTE24 zinc metallopeptidase STE24 ISO ClinVar Annotator: match by term: Mandibuloacral dysostosis ClinVar NCBI chr15:2,669,546...2,708,480
Ensembl chr15:2,670,326...2,709,160
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13595
    Developmental Disease 10032
      bone development disease 1342
        Acro-Osteolysis 8
          Mandibuloacral Dysplasia with Type A Lipodystrophy 3
Path 2
Term Annotations click to browse term
  disease 13595
    disease of anatomical entity 13254
      musculoskeletal system disease 5698
        connective tissue disease 3850
          bone disease 2592
            bone remodeling disease 227
              bone resorption disease 159
                Osteolysis 24
                  Acro-Osteolysis 8
                    Mandibuloacral Dysplasia with Type A Lipodystrophy 3
paths to the root