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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:primary_id: MESH:C567773
 alt_id: OMIM:607080;   RDO:0012039
For additional species annotation, visit the Alliance of Genome Resources.


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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 OMIM:607080
ClinVar Annotator: match by term: 46,XY gonadal dysgenesis, partial, with minifascicular neuropathy
OMIM
ClinVar
PMID:11017805, PMID:25927242 NCBI chr 7:140,575,288...140,580,783
Ensembl chr 7:140,575,288...140,580,783
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      nervous system disease 10863
        peripheral nervous system disease 2472
          polyneuropathy 92
            46,XY Partial Gonadal Dysgenesis, with Minifascicular Neuropathy 1
Path 2
Term Annotations click to browse term
  disease 16103
    Developmental Diseases 9506
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8364
        Congenital Abnormalities 4791
          Urogenital Abnormalities 286
            disorders of sexual development 182
              46, XY Disorders of Sex Development 42
                46,XY sex reversal 16
                  46,XY Partial Gonadal Dysgenesis, with Minifascicular Neuropathy 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.