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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: Opitz G/BBB Syndrome;   hypertelorism-hypospadias sydrome;   telecanthus-hypospadias syndrome
 primary_id: RDO:9004921
 xref: GARD:193
For additional species annotation, visit the Alliance of Genome Resources.


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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 14759
    syndrome 4210
      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 14759
    disease of anatomical entity 13978
      Urogenital Diseases 3755
        Male Urogenital Diseases 1657
          male reproductive system disease 1656
            penile disease 41
              hypospadias 23
                Opitz-GBBB syndrome 2
                  Opitz GBBB Syndrome, Type I 1
                  Opitz GBBB Syndrome, Type II 2
paths to the root