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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:X-linked chondrodysplasia punctata 2
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Accession:DOID:0080352 term browser browse the term
Definition:A chondrodysplasia puncata that has_material_basis_in mutation in the gene encoding delta(8)-delta(7) sterol isomerase emopamil-binding protein on chromosome Xp11. (DO)
Synonyms:exact_synonym: CDPX2;   CDPXD;   CPXD;   Conradi Hunermann Syndrome;   Conradi Hünermann Happle syndrome;   Conradi Hünermann Syndrome;   Conradi-Hunermann-Happle Syndrome;   Happle syndrome;   X-linked dominant chondrodysplasia punctata 2
 narrow_synonym: atypical X-linked dominant chondrodysplasia punctata 2
 xref: MIM:302960;   MONDO:0020603


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X-linked chondrodysplasia punctata 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EBP EBP cholestenol delta-isomerase ISO ClinVar Annotator: match by term: Chondrodysplasia punctata 2 X-linked dominant | ClinVar Annotator: match by term: Chondrodysplasia punctata 2, X-linked dominant, atypical | ClinVar Annotator: match by term: Happle syndrome | ClinVar Annotator: match by term: Hunermann-Conradi Syndrome OMIM
ClinVar		 PMID:1355069 PMID:7677157 PMID:10391218 PMID:10391219 PMID:10710233 More... NCBI chr  X:42,670,592...42,678,571
Ensembl chr  X:42,670,633...42,678,570 		JBrowse link
chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HDAC6 histone deacetylase 6 ISO ClinVar Annotator: match by term: X-linked dominant chondrodysplasia, Chassaing-Lacombe type OMIM
ClinVar		 PMID:16001442 PMID:20181727 PMID:25741868 PMID:28492532 NCBI chr  X:42,917,911...42,941,894
Ensembl chr  X:42,917,964...42,941,887 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15392
    syndrome 10318
      chondrodysplasia punctata 10
        X-linked chondrodysplasia punctata 2 2
          chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia 1
Path 2
Term Annotations click to browse term
  disease 15392
    disease of anatomical entity 15086
      musculoskeletal system disease 7876
        connective tissue disease 5421
          bone disease 3922
            bone development disease 2315
              osteochondrodysplasia 861
                chondrodysplasia punctata 10
                  X-linked chondrodysplasia punctata 2 2
                    chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia 1
paths to the root