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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 with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia
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Accession:DOID:0112106 term browser browse the term
Definition:A syndrome characterized by chondrodysplasia associated with other features including intrauterine growth retardation, hydrocephaly, macrocephaly, frontal bossing, microphthalmia, small low-set ears, and short flat nose that has_material_basis_in heterozygous mutation in HDAC6 on chromosome Xp11.23. (DO)
Synonyms:exact_synonym: X-linked dominant chondrodysplasia, Chassaing-Lacombe type;   X-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome
 primary_id: OMIM:300863
 xref: ORDO:163966
For additional species annotation, visit the Alliance of Genome Resources.



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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 OMIM:300863
ClinVar Annotator: match by term: Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia
OMIM
ClinVar
PMID:16001442 PMID:20181727 PMID:25741868 PMID:28492532 NCBI chr  X:14,550,645...14,572,445
Ensembl chr  X:14,551,044...14,572,441
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    syndrome 8166
      chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia 1
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      musculoskeletal system disease 6466
        connective tissue disease 4447
          bone disease 3124
            bone development disease 1425
              dysostosis 394
                brachydactyly 31
                  chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia 1
paths to the root