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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;   RDO:0001566
 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 ISS OMIM:600092 MouseDO NCBI chr13:111,235,325...111,489,075
Ensembl chr13:111,236,466...111,474,411
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    syndrome 6989
      chondrodysplasia-pseudohermaphroditism syndrome 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
                chondrodysplasia-pseudohermaphroditism syndrome 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.