ONTOLOGY REPORT - ANNOTATIONS


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

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Path 1
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  disease 14875
    syndrome 4220
      chondrodysplasia-pseudohermaphroditism syndrome 1
Path 2
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  disease 14875
    Developmental Diseases 7711
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6750
        Congenital Abnormalities 3150
          Urogenital Abnormalities 244
            sex development disorder 115
              46, XY Disorders of Sex Development 41
                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.