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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:Hypospadias 1, X-Linked
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Accession:DOID:9000779 term browser browse the term
Synonyms:exact_synonym: Hysp1
 primary_id: MESH:C567482;   RDO:0015545
 alt_id: OMIM:300633
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Hypospadias 1, X-Linked term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ar androgen receptor ISO ClinVar Annotator: match by OMIM:300633
ClinVar Annotator: match by term: Hypospadias 1, X-linked
OMIM
ClinVar
PMID:8097257, PMID:8683794, PMID:25326637, PMID:25741868 NCBI chr  X:67,656,253...67,828,998
Ensembl chr  X:67,656,253...67,829,026
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    physical disorder 985
      hypospadias 23
        Hypospadias 1, X-Linked 1
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      Urogenital Diseases 4146
        reproductive system disease 2574
          male reproductive system disease 1773
            penile disease 55
              hypospadias 23
                Hypospadias 1, X-Linked 1
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.