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Term:Martsolf syndrome
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Accession:DOID:0111586 term browser browse the term
Definition:A syndrome characterized by intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in RAB3GAP2 on chromosome 1q41. (DO)
Synonyms:exact_synonym: cataract-intellectual disability-hypogonadism syndrome;   cataract-mental retardation-hypogonadism
 primary_id: MESH:C536028
 alt_id: DOID:9000233;   OMIM:212720
 xref: GARD:3406;   ORDO:1387
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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

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Path 1
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  disease 15609
    syndrome 5791
      Martsolf syndrome 2
Path 2
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  disease 15609
    disease of anatomical entity 14966
      nervous system disease 10397
        central nervous system disease 8544
          brain disease 7900
            disease of mental health 5642
              developmental disorder of mental health 2813
                specific developmental disorder 1975
                  intellectual disability 1798
                    Martsolf syndrome 2
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