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DOID:0112106 - chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia
Disease Ontology 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.
Synonyms: X-linked dominant chondrodysplasia, Chassaing-Lacombe type, X-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome
Xenbase Genes
:
hdac6
| MIM:300863 - CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
X-linked chondrodysplasia punctata 2 (is_a)