ONTOLOGY REPORT - ANNOTATIONS


Term:Opitz GBBB Syndrome, Type II
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Accession:DOID:9006371 term browser browse the term
Synonyms:exact_synonym: BBB SYNDROME;   Chromosome 22q11.2 Deletion Syndrome, Opitz Phenotype;   G SYNDROME;   GBBB SYNDROME;   GBBB2;   Hypertelorism with Esophageal Abnormalities and Hypospadias;   Hypertelorism with Esophageal Abnormality and Hypospadias;   Hypospadias-Dysphagia Syndrome;   OGS2;   Opitz BBB Syndrome;   Opitz BBB-G Syndrome;   Opitz BBBG syndrome;   Opitz G Syndrome;   Opitz GBBB Syndrome, Autosomal Dominant;   Opitz oculogenitolaryngeal syndrome, type II;   Opitz-Frias syndrome;   Opitz-G syndrome, type 2;   Opitz-G syndrome, type II;   autosomal dominant Opitz syndrome (ADOS);   telecanthus with associated abnormalities
 primary_id: MESH:C538387
 alt_id: OMIM:145410;   RDO:0004363
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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 14875
    syndrome 4220
      Opitz-GBBB syndrome 2
        Opitz GBBB Syndrome, Type II 2
Path 2
Term Annotations click to browse term
  disease 14875
    disease of anatomical entity 14051
      Urogenital Diseases 3874
        Male Urogenital Diseases 1663
          male reproductive system disease 1663
            penile disease 41
              hypospadias 23
                Opitz-GBBB syndrome 2
                  Opitz GBBB Syndrome, Type II 2
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