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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
For additional species annotation, visit the Alliance of Genome Resources.


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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 OMIM NCBI chr30:14,640,973...14,864,151
Ensembl chr30:14,640,973...14,864,151
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13760
    syndrome 7177
      Marfan syndrome 209
        Marfan Lipodystrophy Syndrome 1
Path 2
Term Annotations click to browse term
  disease 13760
    disease of anatomical entity 13412
      cardiovascular system disease 3451
        vascular disease 2517
          artery disease 1611
            aortic disease 570
              Marfan syndrome 209
                Marfan Lipodystrophy Syndrome 1
paths to the root