Search Ontology:
Human Disease

chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia

Term ID
DOID:0112106
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 Pages
Genes Involved
Zebrafish Models