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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
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chondrodysplasia-pseudohermaphroditism syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hhat hedgehog acyltransferase JBrowse link 13 111,235,325 111,489,075 RGD:13592920

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15602
    syndrome 5231
      chondrodysplasia-pseudohermaphroditism syndrome 1
Path 2
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  disease 15602
    Developmental Diseases 8837
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7627
        Congenital Abnormalities 3732
          Urogenital Abnormalities 236
            sex development disorder 102
              46, XY Disorders of Sex Development 38
                chondrodysplasia-pseudohermaphroditism syndrome 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.