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Disease Ontology Browser
chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia (DOID:0112106)
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Synonyms: X-linked dominant chondrodysplasia, Chassaing-Lacombe type; X-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome
Alt IDs: OMIM:300863, ORDO:163966
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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11/19/2024
MGI 6.24 		The Jackson Laboratory