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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 the HDAC6 gene 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


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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 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 17412
    sensory system disease 6507
      eye disease 3325
        microphthalmia 206
          chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia 1
Path 2
Term Annotations click to browse term
  disease 17412
    disease of anatomical entity 14873
      Skin and Connective Tissue Diseases 6721
        connective tissue disease 5225
          bone disease 3783
            bone development disease 2249
              osteochondrodysplasia 851
                chondrodysplasia punctata 10
                  X-linked chondrodysplasia punctata 2 2
                    chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia 1
paths to the root