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ONTOLOGY REPORT - ANNOTATIONS


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 JBrowse Chr Start Stop Reference
G Fbn1 fibrillin 1 JBrowse link 3 117,569,708 117,766,160 RGD:8554872
RGD:11554173
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14759
    syndrome 4210
      Marfan syndrome 53
        Marfan Lipodystrophy Syndrome 1
Path 2
Term Annotations click to browse term
  disease 14759
    disease of anatomical entity 13978
      nervous system disease 9097
        sensory system disease 4231
          eye and adnexa disease 1971
            eye disease 1971
              Marfan syndrome 53
                Marfan Lipodystrophy Syndrome 1
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