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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 2, X-Linked
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Accession:DOID:9003647 term browser browse the term
Synonyms:exact_synonym: Hysp2
 primary_id: MESH:C567462
 alt_id: OMIM:300758



show annotations for term's descendants           Sort by:
Hypospadias 2, X-Linked term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mamld1 mastermind-like domain containing 1 ISO ClinVar Annotator: match by term: Hypospadias 2, X-linked
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:17086185 PMID:20347055 PMID:25741868 PMID:28492532 PMID:32690052 More... NCBI chr  X:70,093,642...70,199,662
Ensembl chr  X:70,093,846...70,199,662
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18296
    physical disorder 4989
      hypospadias 85
        Hypospadias 2, X-Linked 1
Path 2
Term Annotations click to browse term
  disease 18296
    disease of anatomical entity 15613
      Urogenital Diseases 4868
        reproductive system disease 2965
          male reproductive system disease 1949
            penile disease 131
              hypospadias 85
                Hypospadias 2, X-Linked 1
paths to the root