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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
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Accession:DOID:0081127 term browser browse the term
Definition:A bone development disease that is characterized by underdevelopment of the lower jaw and the collarbone, bone loss at the ends of the fingers and toes, skin degeneration, and partial lipodystrophy, a condition marked by selective loss of body fat from various areas of the body. (DO)
Synonyms:exact_synonym: GARD:11893;   MIM:PS248370;   ORDO:2457


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mandibuloacral dysplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmna lamin A/C ISO ClinVar Annotator: match by term: Mandibuloacral dysplasia ClinVar PMID:10739764 PMID:11503164 PMID:12075506 PMID:12788894 PMID:14627682 More... NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423 		JBrowse link
G Zmpste24 zinc metallopeptidase STE24 ISO ClinVar Annotator: match by term: Mandibuloacral dysplasia ClinVar PMID:25741868 NCBI chr 5:134,627,218...134,660,360
Ensembl chr 5:134,627,229...134,660,110 		JBrowse link
mandibuloacral dysplasia type A lipodystrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmna lamin A/C ISO CTD Direct Evidence: marker/mechanism
DNA:missense mutation:cds:p.R527H (human)
ClinVar Annotator: match by term: Lipodystrophy, type A, associated with mandibuloacral dysplasia | ClinVar Annotator: match by term: Mandibuloacral dysostosis | ClinVar Annotator: match by term: Mandibuloacral dysplasia with type A lipodystrophy | ClinVar Annotator: match by term: Mandibuloacral dysplasia with type A lipodystrophy, atypical		 OMIM
CTD
ClinVar
RGD		 PMID:262236 PMID:2007407 PMID:2338570 PMID:2733290 PMID:2753225 More... RGD:12791023 NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18554282 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120 		JBrowse link
mandibuloacral dysplasia type B lipodystrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zmpste24 zinc metallopeptidase STE24 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Mandibuloacral dysplasia with type B lipodystrophy		 OMIM
CTD
ClinVar		 PMID:3840649 PMID:8152880 PMID:9536098 PMID:12913070 PMID:15317753 More... NCBI chr 5:134,627,218...134,660,360
Ensembl chr 5:134,627,229...134,660,110 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19106
    Developmental Disease 14617
      bone development disease 2378
        mandibuloacral dysplasia 3
          mandibuloacral dysplasia type A lipodystrophy 2
          mandibuloacral dysplasia type B lipodystrophy 1
Path 2
Term Annotations click to browse term
  disease 19106
    disease of anatomical entity 18445
      musculoskeletal system disease 8494
        connective tissue disease 5963
          bone disease 4417
            bone development disease 2378
              mandibuloacral dysplasia 3
                mandibuloacral dysplasia type A lipodystrophy 2
                mandibuloacral dysplasia type B lipodystrophy 1
paths to the root