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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;   GBBB2;   Hypospadias-Dysphagia Syndrome;   OGS2;   Opitz BBB 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 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 16017
    syndrome 6141
      Opitz-GBBB syndrome 2
        Opitz GBBB Syndrome, Type II 1
Path 2
Term Annotations click to browse term
  disease 16017
    disease of anatomical entity 15273
      Urogenital Diseases 4032
        Male Urogenital Diseases 1713
          male reproductive system disease 1713
            penile disease 41
              hypospadias 21
                Opitz-GBBB syndrome 2
                  Opitz GBBB Syndrome, Type II 1
paths to the root

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