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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 monogenic disease that is characterized by hypertelorism, hypospadias, and additional midline defects resulting from mutations to the MID1 gene in the X-linked form or from a deletion on chromosome 22q11.2 in the autosomal dominant form. (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
G Specc1l sperm antigen with calponin homology and coiled-coil domains 1-like JBrowse link 20 14,287,470 14,393,879 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 Mid1 midline 1 JBrowse link X 25,458,782 25,839,941 RGD:8554872
G Specc1l sperm antigen with calponin homology and coiled-coil domains 1-like JBrowse link 20 14,287,470 14,393,879 RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15602
    syndrome 5231
      Opitz-GBBB syndrome 2
        Opitz GBBB Syndrome, Type I 1
        Opitz GBBB Syndrome, Type II 2
Path 2
Term Annotations click to browse term
  disease 15602
    Developmental Diseases 8837
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7627
        Congenital Abnormalities 3732
          Musculoskeletal Abnormalities 1341
            Craniofacial Abnormalities 1064
              Telecanthus 6
                Opitz-GBBB syndrome 2
                  Opitz GBBB Syndrome, Type I 1
                  Opitz GBBB Syndrome, Type II 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.