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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 type A lipodystrophy
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Accession:DOID:0081128 term browser browse the term
Definition:A mandibuloacral dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding lamin A/C (LMNA) on chromosome 1q22 and that is characterized by growth retardation, craniofacial anomalies with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and pigmentary skin changes. The lipodystrophy is characterized by a marked acral loss of fatty tissue with normal or increased fatty tissue in the neck and trunk. (DO)
Synonyms:exact_synonym: Craniomandibular Dermatodysostosis;   MADA;   Mandibuloacral Dysplasia with Type A Lipodystrophy, Atypical;   lipodystrophy type A associated with mandibuloacral dysplasia;   mandibuloacral dysplasia with type A lipodystrophy
 narrow_synonym: CRANIOMANDIBULAR DERMATODYSOSTOSIS MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY, ATYPICAL;   MANDIBULOACRAL DYSOSTOSIS
 primary_id: MESH:C535705
 alt_id: DOID:9003444;   MIM:248370
 xref: GARD:3374;   NCI:C123417;   ORDO:90153


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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
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19102
    Developmental Disease 14601
      bone development disease 2374
        Acro-Osteolysis 20
          mandibuloacral dysplasia type A lipodystrophy 2
Path 2
Term Annotations click to browse term
  disease 19102
    disease of anatomical entity 18443
      musculoskeletal system disease 8492
        connective tissue disease 5959
          bone disease 4413
            bone remodeling disease 507
              bone resorption disease 374
                Osteolysis 37
                  Acro-Osteolysis 20
                    mandibuloacral dysplasia type A lipodystrophy 2
paths to the root