Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Disease ID: disease_node_19140
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| Dbxref | MIM:300863, ORDO:163966 |
|---|---|
| Subclassof | DOID_0080352 |
| Data Source | DOID |
| Synonyms | X-linked dominant chondrodysplasia, Chassaing-Lacombe type, X-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome |
| Doid Label | chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia |
| Doid Description | 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. |
| Has Material Basis In | GENO_0000146 |
| Disease Node Id | disease_node_19140 |
| Doid Id | DOID_0112106 |
| Label | Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
- Outgoing r'ship
SUBCLASS_OFto/from X-Linked Chondrodysplasia Punctata 2(ID:disease_node_19139) (Disease)