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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
 alt_id: OMIM:300633


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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hypospadias 1, X-linked		 CTD
ClinVar
OMIM		 PMID:2594783 PMID:7981687 PMID:8033918 PMID:8097257 PMID:8683794 More... NCBI chr  X:63,104,771...63,273,934
Ensembl chr  X:63,104,771...63,273,925 		JBrowse link
G Hsd3b2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 ISO ClinVar Annotator: match by term: Hypospadias 1, X-linked ClinVar NCBI chr 2:186,095,897...186,105,354
Ensembl chr 2:186,095,897...186,101,852 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    physical disorder 4965
      hypospadias 89
        Hypospadias 1, X-Linked 2
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      Urogenital Diseases 5233
        reproductive system disease 3010
          male reproductive system disease 2012
            penile disease 133
              hypospadias 89
                Hypospadias 1, X-Linked 2
paths to the root