ONTOLOGY REPORT - ANNOTATIONS


Term:Goldberg-Shprintzen syndrome
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Accession:DOID:0060481 term browser browse the term
Definition:A syndrome characterized by intellectual disability, specific facial gestalt and Hirschsprung's disease (HSCR). It has material basis in homozygous mutation in the KIAA1279 gene on chromosome 10q21.1. (DO)
Synonyms:exact_synonym: GOSHS;   Goldberg-Shprintzen megacolon syndrome
 primary_id: MESH:C537279
 alt_id: OMIM:609460;   RDO:0003091
 xref: GARD:9849;   ORDO:66629
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Goldberg-Shprintzen syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kif1bp KIF1 binding protein JBrowse link 20 32,191,731 32,211,295 RGD:8554872
RGD:11554173
RGD:7240710
G Ski SKI proto-oncogene JBrowse link 5 172,556,196 172,623,878 RGD:8554872

Term paths to the root
Path 1
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  disease 14875
    syndrome 4220
      Goldberg-Shprintzen syndrome 2
Path 2
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  disease 14875
    disease of anatomical entity 14051
      gastrointestinal system disease 4251
        Gastrointestinal Diseases 2349
          intestinal disease 1304
            colonic disease 867
              megacolon 99
                Hirschsprung's disease 98
                  Goldberg-Shprintzen syndrome 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.