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ONTOLOGY REPORT - ANNOTATIONS


Term:Martsolf syndrome
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Accession:DOID:9000233 term browser browse the term
Synonyms:exact_synonym: cataract-mental retardation-hypogonadism
 primary_id: MESH:C536028;   RDO:0001440
 alt_id: OMIM:212720
For additional species annotation, visit the Alliance of Genome Resources.


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Martsolf syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rab3gap1 RAB3 GTPase activating protein catalytic subunit 1 JBrowse link 13 44,578,208 44,649,876 RGD:8554872
G Rab3gap2 RAB3 GTPase activating non-catalytic protein subunit 2 JBrowse link 13 103,157,806 103,229,010 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15603
    syndrome 5215
      Martsolf syndrome 2
Path 2
Term Annotations click to browse term
  disease 15603
    disease of anatomical entity 14934
      nervous system disease 10239
        central nervous system disease 8117
          brain disease 7586
            disease of mental health 5530
              developmental disorder of mental health 2719
                specific developmental disorder 1891
                  intellectual disability 1713
                    Martsolf syndrome 2
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.