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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 B Lipodystrophy
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Accession:DOID:9004388 term browser browse the term
Synonyms:exact_synonym: Lipodystrophy, type B, associated with mandibuloacral dysplasia;   MADB
 broad_synonym: ZMPSTE24-related disorder
 primary_id: MESH:C535706
 alt_id: OMIM:608612
For additional species annotation, visit the Alliance of Genome Resources.


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Mandibuloacral Dysplasia with Type B Lipodystrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zmpste24 zinc metallopeptidase STE24 ISO ClinVar Annotator: match by OMIM:608612
ClinVar Annotator: match by term: Lipodystrophy, type B, associated with mandibuloacral dysplasia
ClinVar Annotator: match by term: Mandibuloacral dysplasia with type B lipodystrophy
OMIM
ClinVar
PMID:3840649 PMID:8152880 PMID:12913070 PMID:15317753 PMID:15843403 PMID:15937076 PMID:16297189 PMID:17152860 PMID:18414213 PMID:18435794 PMID:19020898 PMID:19139791 PMID:19504603 PMID:19645629 PMID:19680556 PMID:20034068 PMID:20635340 PMID:20814950 PMID:21108632 PMID:21121943 PMID:21831885 PMID:22495976 PMID:22718200 PMID:24169522 PMID:25629449 PMID:25741868 PMID:28492532 NCBI chr 5:139,982,404...140,015,541
Ensembl chr 5:139,983,680...140,015,541
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16937
    Nutritional and Metabolic Diseases 5219
      disease of metabolism 5219
        lipid metabolism disorder 927
          lipodystrophy 37
            Mandibuloacral Dysplasia with Type B Lipodystrophy 1
Path 2
Term Annotations click to browse term
  disease 16937
    Developmental Disease 10589
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8895
        genetic disease 8408
          inherited metabolic disorder 2447
            lipid metabolism disorder 927
              lipodystrophy 37
                Mandibuloacral Dysplasia with Type B Lipodystrophy 1
paths to the root