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chondrodysplasia-pseudohermaphroditism syndrome - Ontology Report - Rat Genome Database

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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: HHAT-RELATED CONDITION;   NNMS;   Nivelon-Nivelon-Mabille syndrome;   chondrodysplasia pseudohermaphrodism syndrome;   chondrodysplasia-disorder of sex development syndrome;   pseudohermaphrodism and chondrodysplasia
 xref: MESH:C536123;   MIM:600092;   MONDO:0010814;   ORDO:1422

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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
ISS		 ClinVar Annotator: match by term: Chondrodysplasia-pseudohermaphroditism syndrome | ClinVar Annotator: match by term: HHAT-related condition
OMIM:600092		 OMIM
ClinVar
MouseDO		 PMID:24784881 PMID:25741868 PMID:28492532 PMID:30912300 NCBI chr13:106,558,635...106,814,723
Ensembl chr13:104,010,916...104,282,893 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19140
    syndrome 11403
      chondrodysplasia-pseudohermaphroditism syndrome 1
Path 2
Term Annotations click to browse term
  disease 19140
    Developmental Disease 14675
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13724
        Congenital Abnormalities 7894
          Urogenital Abnormalities 462
            disorder of sexual development 238
              46, XY Disorders of Sex Development 85
                chondrodysplasia-pseudohermaphroditism syndrome 1
paths to the root