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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:46,XY Partial Gonadal Dysgenesis, with Minifascicular Neuropathy
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Accession:DOID:9006824 term browser browse the term
Synonyms:exact_synonym: GDMN
 primary_id: MESH:C567773
 alt_id: MIM:607080


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46,XY Partial Gonadal Dysgenesis, with Minifascicular Neuropathy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DHH desert hedgehog signaling molecule ISO ClinVar Annotator: match by term: 46,XY gonadal dysgenesis, partial, with minifascicular neuropathy OMIM
ClinVar		 PMID:11017805 PMID:11891836 PMID:25927242 PMID:28589169 PMID:28708305 More... NCBI chr27:5,490,122...5,497,144
Ensembl chr27:5,490,441...5,494,636 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15721
    disease of anatomical entity 15367
      nervous system disease 13480
        peripheral nervous system disease 4194
          polyneuropathy 108
            46,XY Partial Gonadal Dysgenesis, with Minifascicular Neuropathy 1
Path 2
Term Annotations click to browse term
  disease 15721
    Developmental Disease 13694
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12736
        Congenital Abnormalities 7659
          Urogenital Abnormalities 444
            disorder of sexual development 230
              46, XY Disorders of Sex Development 83
                46,XY sex reversal 16
                  46,XY Partial Gonadal Dysgenesis, with Minifascicular Neuropathy 1
paths to the root