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ONTOLOGY REPORT - ANNOTATIONS


Term:Marfanoid Hypermobility Syndrome
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Accession:DOID:9004097 term browser browse the term
Synonyms:exact_synonym: Marfan syndrome type 1
 primary_id: MESH:C531742
 alt_id: OMIM:154750
For additional species annotation, visit the Alliance of Genome Resources.


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Marfanoid Hypermobility Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col5a2 collagen type V alpha 2 chain JBrowse link 9 52,091,088 52,238,735 RGD:8554872
G Fbn1 fibrillin 1 JBrowse link 3 117,569,708 117,766,160 RGD:8554872
G Myh11 myosin heavy chain 11 JBrowse link 10 764,421 859,184 RGD:8554872
G Mylk myosin light chain kinase JBrowse link 11 69,013,060 69,260,039 RGD:8554872
G Notch1 notch receptor 1 JBrowse link 3 3,905,562 3,951,015 RGD:8554872
G Tgfbr1 transforming growth factor, beta receptor 1 JBrowse link 5 63,056,071 63,119,635 RGD:8554872
G Tgfbr2 transforming growth factor, beta receptor 2 JBrowse link 8 124,310,288 124,399,345 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15992
    syndrome 6097
      Marfanoid Hypermobility Syndrome 7
Path 2
Term Annotations click to browse term
  disease 15992
    Developmental Diseases 9280
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8094
        Congenital Abnormalities 4465
          Cardiovascular Abnormalities 1088
            congenital heart disease 1038
              Marfan syndrome 207
                Marfanoid Hypermobility Syndrome 7
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.