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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:Penis Agenesis
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Accession:DOID:9003503 term browser browse the term
Synonyms:exact_synonym: Agenesis of the penis;   Micropenis;   Penis agenesia
 primary_id: MESH:C536649


show annotations for term's descendants           Sort by:
Penis Agenesis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Srd5a2 steroid 5 alpha-reductase 2 ISO ClinVar Annotator: match by term: Micropenis ClinVar PMID:10898110 PMID:12843198 PMID:14594182 PMID:15064320 PMID:19342739 More... NCBI chr 6:21,426,225...21,465,727
Ensembl chr 6:21,426,215...21,462,112 		JBrowse link
G Wfdc17 WAP four-disulfide core domain 17 ISO ClinVar Annotator: match by term: Micropenis ClinVar PMID:11297579 PMID:25741868 NCBI chr10:68,561,954...68,562,801
Ensembl chr10:68,561,954...68,562,801 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19134
    disease of anatomical entity 18447
      reproductive system disease 3191
        male reproductive system disease 2044
          Penis Agenesis 2
Path 2
Term Annotations click to browse term
  disease 19134
    disease of anatomical entity 18447
      Urogenital Diseases 5391
        reproductive system disease 3191
          male reproductive system disease 2044
            Penis Agenesis 2
paths to the root