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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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;   NCI:C125487;   OMIM:PS300000
For additional species annotation, visit the Alliance of Genome Resources.


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Opitz-GBBB syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mid1 midline 1 ISS
ISO
OMIM:145410 | OMIM:300000
ClinVar Annotator: match by term: TELECANTHUS-HYPOSPADIAS SYNDROME
MouseDO
ClinVar
PMID:25741868 PMID:28492532 NCBI chr  X:25,458,782...25,839,941
Ensembl chr  X:25,458,771...25,628,272
JBrowse link
Opitz GBBB syndrome type I term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mid1 midline 1 ISO ClinVar Annotator: match by term: Opitz GBBB syndrome, type I
ClinVar Annotator: match by term: OPITZ-G SYNDROME, TYPE I
OMIM
ClinVar
PMID:9354791 PMID:11030761 PMID:12545276 PMID:15558842 PMID:17221865 PMID:18360914 PMID:18949047 PMID:21326312 PMID:23757202 PMID:25207814 PMID:25741868 PMID:25874572 PMID:28492532 NCBI chr  X:25,458,782...25,839,941
Ensembl chr  X:25,458,771...25,628,272
JBrowse link
Opitz GBBB syndrome type II term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Specc1l sperm antigen with calponin homology and coiled-coil domains 1-like ISO ClinVar Annotator: match by term: Opitz GBBB syndrome, type II OMIM
ClinVar
PMID:3228142 PMID:25412741 PMID:25741868 NCBI chr20:14,287,470...14,393,879
Ensembl chr20:14,287,457...14,393,793
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    syndrome 7036
      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 16091
    disease of anatomical entity 15341
      Urogenital Diseases 4146
        Male Urogenital Diseases 1763
          male reproductive system disease 1763
            penile disease 62
              hypospadias 21
                Opitz-GBBB syndrome 2
                  Opitz GBBB syndrome type I 1
                  Opitz GBBB syndrome type II 1
paths to the root