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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:Marfan Lipodystrophy Syndrome
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Accession:DOID:9005492 term browser browse the term
Definition:A syndrome characterized by congenital lipodystrophy, premature birth with an accelerated linear growth disproportionate to weight gain, and progeroid appearance with distinct facial features, including proptosis, downslanting palpebral fissures, and retrognathia. (OMIM)
Synonyms:exact_synonym: MARFAN-PROGEROID-LIPODYSTROPHY SYNDROME;   MARFANOID-PROGEROID SYNDROME;   MARFANOID-PROGEROID-LIPODYSTROPHY SYNDROME;   MFLS
 primary_id: OMIM:616914
 alt_id: RDO:9000356


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Marfan Lipodystrophy Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbn1 fibrillin 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: MARFAN-PROGEROID-LIPODYSTROPHY SYNDROME | ClinVar Annotator: match by term: MARFANOID-PROGEROID-LIPODYSTROPHY SYNDROME | ClinVar Annotator: match by term: Marfan lipodystrophy syndrome		 OMIM
CTD
ClinVar		 PMID:627879 PMID:948948 PMID:2005308 PMID:2254511 PMID:3212331 More... NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    syndrome 10888
      Marfan syndrome 218
        Marfan Lipodystrophy Syndrome 1
Path 2
Term Annotations click to browse term
  disease 18969
    Pathological Conditions, Signs and Symptoms 13343
      Signs and Symptoms 10819
        Neurologic Manifestations 10053
          sensory system disease 6962
            skin disease 3969
              Metabolic Skin Diseases 200
                lipodystrophy 200
                  Marfan Lipodystrophy Syndrome 1
paths to the root