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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 B lipodystrophy
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Accession:DOID:0081129 term browser browse the term
Definition:A mandibuloacral dysplasia that has_material_basis_in compound heterozygous mutation in the ZMPSTE24 gene on chromosome 1p34 and that is characterized by postnatal growth retardation, craniofacial anomalies such as mandibular hypoplasia, skeletal anomalies such as progressive osteolysis of the terminal phalanges and clavicles, and skin changes such as mottled hyperpigmentation and atrophy. The lipodystrophy is characterized by generalized loss of subcutaneous fat involving the face, trunk, and extremities. (DO)
Synonyms:exact_synonym: MADB;   Mandibuloacral Dysplasia with Type B Lipodystrophy;   lipodystrophy type B associated with mandibuloacral dysplasia
 broad_synonym: ZMPSTE24-related disorder
 primary_id: MESH:C535706
 alt_id: DOID:9004388;   OMIM:608612


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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 ClinVar Annotator: match by term: Lipodystrophy, type B, associated with mandibuloacral dysplasia | ClinVar Annotator: match by term: Mandibuloacral dysplasia with type B lipodystrophy
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 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 21128
    Developmental Disease 18449
      bone development disease 2304
        mandibuloacral dysplasia 3
          mandibuloacral dysplasia type B lipodystrophy 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      nervous system disease 14059
        Neurologic Manifestations 10039
          sensory system disease 6940
            skin disease 3960
              Metabolic Skin Diseases 200
                lipodystrophy 200
                  mandibuloacral dysplasia type B lipodystrophy 1
paths to the root