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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:chondrodysplasia-pseudohermaphroditism syndrome
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Accession:DOID:0060644 term browser browse the term
Definition:A syndrome characterized by the clinical features of 46,XY complete gonadal dysgenesis in association with severe dwarfism with generalized chondrodysplasia. (DO)
Synonyms:exact_synonym: Nivelon-Nivelon-Mabille syndrome;   chondrodysplasia pseudohermaphrodism syndrome;   chondrodysplasia-disorder of sex development syndrome;   pseudohermaphrodism and chondrodysplasia
 primary_id: MESH:C536123
 alt_id: OMIM:600092
 xref: ORDO:1422
For additional species annotation, visit the Alliance of Genome Resources.



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chondrodysplasia-pseudohermaphroditism syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hhat hedgehog acyltransferase ISO ClinVar Annotator: match by term: Chondrodysplasia-pseudohermaphroditism syndrome OMIM
ClinVar
PMID:24784881 PMID:30912300 NCBI chr13:104,024,507...104,283,581
Ensembl chr13:104,010,916...104,282,893
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    syndrome 8166
      chondrodysplasia-pseudohermaphroditism syndrome 1
Path 2
Term Annotations click to browse term
  disease 17289
    Developmental Disease 10990
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9530
        Congenital Abnormalities 5603
          Urogenital Abnormalities 342
            disorder of sexual development 181
              46, XY Disorders of Sex Development 47
                chondrodysplasia-pseudohermaphroditism syndrome 1
paths to the root