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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 IAGP
EXP
DNA:missense mutation:cds:p.R527H (human)
ClinVar Annotator: match by term: Mandibuloacral dysplasia with type A lipodystrophy
ClinVar Annotator: match by term: Mandibuloacral dysplasia with type A lipodystrophy, atypical
ClinVar Annotator: match by term: Lipodystrophy, type A, associated with mandibuloacral dysplasia
ClinVar Annotator: match by term: Mandibuloacral dysostosis
ClinVar Annotator: match by term: CRANIOMANDIBULAR DERMATODYSOSTOSIS
CTD Direct Evidence: marker/mechanism
ClinVar
OMIM
CTD
PMID:10080180 PMID:10612827 PMID:10655060 PMID:10999845 PMID:11503164 PMID:12075506 PMID:12628721 PMID:12629077 PMID:12768443 PMID:12784312 PMID:12788894 PMID:12920062 PMID:12927431 PMID:14597414 PMID:14615128 PMID:14627682 PMID:14749366 PMID:15140538 PMID:15286156 PMID:15298354 PMID:15475483 PMID:15998779 PMID:16174718 PMID:16278265 PMID:16440304 PMID:16772334 PMID:16809772 PMID:17250669 PMID:17274801 PMID:17377071 PMID:17848409 PMID:17935239 PMID:18348272 PMID:18396274 PMID:18414213 PMID:18549403 PMID:18604166 PMID:18795223 PMID:18796515 PMID:18926329 PMID:19084400 PMID:19318026 PMID:19424285 PMID:19427440 PMID:19432833 PMID:19589617 PMID:19638735 PMID:19680556 PMID:19764019 PMID:19875404 PMID:20848652 PMID:20980393 PMID:21465660 PMID:21520333 PMID:22224630 PMID:22266370 PMID:22326558 PMID:22464770 PMID:22918509 PMID:23183350 PMID:23328570 PMID:23497705 PMID:23853504 PMID:23861362 PMID:24001739 PMID:24033266 PMID:24055113 PMID:24503780 PMID:24623722 PMID:24642510 PMID:24721642 PMID:24768879 PMID:24846508 PMID:24861648 PMID:25214167 PMID:25286833 PMID:25324471 PMID:25371241 PMID:25637381 PMID:25741868 PMID:25823658 PMID:25982065 PMID:26183555 PMID:26332594 PMID:26467025 PMID:26602028 PMID:26752647 PMID:27199538 PMID:27532257 PMID:27585670 PMID:27707468 PMID:27723096 PMID:27813223 PMID:27854218 PMID:27896052 PMID:27919367 PMID:28074886 PMID:28255936 PMID:28341588 PMID:28416588 PMID:28492532 PMID:28531892 PMID:28663758 PMID:28679633 PMID:28785654 PMID:28874324 PMID:29040816 PMID:29149195 PMID:29237675 PMID:29693488 PMID:29791652 PMID:29943882 PMID:30137533 PMID:30165862 PMID:30420677 PMID:30871747 PMID:30901896 PMID:31303467 PMID:31525256 PMID:32004434 PMID:32456328, PMID:16046620 RGD:12791023 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,573...156,140,089
Ensembl chr 1:156,082,573...156,140,089
JBrowse link
G MMP9 matrix metallopeptidase 9 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18554282 NCBI chr20:46,008,908...46,016,561
Ensembl chr20:46,008,908...46,016,561
JBrowse link
G ZMPSTE24 zinc metallopeptidase STE24 IAGP ClinVar Annotator: match by term: Mandibuloacral dysostosis ClinVar NCBI chr 1:40,258,078...40,294,180
Ensembl chr 1:40,258,041...40,294,180
Ensembl chr 1:40,258,041...40,294,180
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19902
    Developmental Disease 13332
      bone development disease 1513
        Acro-Osteolysis 8
          Mandibuloacral Dysplasia with Type A Lipodystrophy 3
Path 2
Term Annotations click to browse term
  disease 19902
    disease of anatomical entity 18514
      musculoskeletal system disease 6689
        connective tissue disease 4546
          bone disease 3071
            bone remodeling disease 249
              bone resorption disease 170
                Osteolysis 24
                  Acro-Osteolysis 8
                    Mandibuloacral Dysplasia with Type A Lipodystrophy 3
paths to the root