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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
 primary_id: OMIM:302960
 alt_id: RDO:0004391
For additional species annotation, visit the Alliance of Genome Resources.


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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 OMIM:302960
ClinVar Annotator: match by term: Chondrodysplasia punctata 2, X-linked dominant, atypical
ClinVar Annotator: match by term: Chondrodysplasia punctata 2 X-linked dominant
OMIM
ClinVar
PMID:1355069 PMID:7677157 PMID:10391218 PMID:10391219 PMID:10942423 PMID:12483303 PMID:12503102 PMID:15368506 PMID:18414213 PMID:20949533 PMID:22229330 PMID:25741868 PMID:28492532 NCBI chr  X:15,049,394...15,055,782
Ensembl chr  X:15,049,462...15,055,781
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16092
    syndrome 7036
      chondrodysplasia punctata 7
        X-linked chondrodysplasia punctata 2 1
Path 2
Term Annotations click to browse term
  disease 16092
    disease of anatomical entity 15341
      musculoskeletal system disease 5736
        connective tissue disease 4135
          bone disease 3505
            bone development disease 1305
              osteochondrodysplasia 442
                chondrodysplasia punctata 7
                  X-linked chondrodysplasia punctata 2 1
paths to the root