OBO ID: DOID:0112106
Term Name: chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia Search Ontology:
Synonyms:
  • X-linked dominant chondrodysplasia, Chassaing-Lacombe type
  • X-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome
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. https://pubmed.ncbi.nlm.nih.gov/16001442/
References:
Ontology: Human Disease   ( DOID:0112106 )
Relationships
is a type of:
OTHER chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
HDAC6 ?Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia 300863
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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