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ONTOLOGY REPORT - ANNOTATIONS


Term:Opitz-GBBB syndrome
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Accession:DOID:0050780 term browser browse the term
Definition:A syndrome that is characterized by hypertelorism, hypospadias, and additional midline defects. (DO)
Synonyms:exact_synonym: GBBB syndrome;   Opitz BBB-G syndrome;   Opitz BBBG syndrome;   Opitz G/BBB syndrome;   hypertelorism with esophageal abnormalities and hypospadias;   hypertelorism with esophageal abnormality and hypospadias;   hypertelorism-hypospadias sydrome;   telecanthus-hypospadias syndrome
 xref: GARD:193;   OMIM:PS300000
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Opitz-GBBB syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mid1 midline 1 JBrowse link X 25,458,782 25,839,941 RGD:13592920
RGD:8554872
Opitz GBBB syndrome type I term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mid1 midline 1 JBrowse link X 25,458,782 25,839,941 RGD:7240710
RGD:8554872
Opitz GBBB syndrome type II term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Specc1l sperm antigen with calponin homology and coiled-coil domains 1-like JBrowse link 20 14,287,470 14,393,879 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16021
    syndrome 6144
      Opitz-GBBB syndrome 2
        Opitz GBBB syndrome type I 1
        Opitz GBBB syndrome type II 1
Path 2
Term Annotations click to browse term
  disease 16021
    disease of anatomical entity 15274
      Urogenital Diseases 4033
        Male Urogenital Diseases 1716
          male reproductive system disease 1716
            penile disease 42
              hypospadias 21
                Opitz-GBBB syndrome 2
                  Opitz GBBB syndrome type I 1
                  Opitz GBBB syndrome type II 1
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.