FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia ID (Ontology) DOID:0112106 (Human Disease)
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.
Also Known As "X-linked dominant chondrodysplasia, Chassaing-Lacombe type" ; "X-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome"
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 chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia       1
 for disease ribbon | chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia       1
 model of | chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia       1
Spanning Tree (Parents/Children)
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X-linked dominant disease__
chondrodysplasia punctata__|
                           X-linked chondrodysplasia punctata 2
                            |__chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia  1 rec.
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Is a X-linked chondrodysplasia punctata 2
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Synonyms
  • "X-linked dominant chondrodysplasia, Chassaing-Lacombe type" EXACT
    "X-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome" EXACT
Secondary IDs
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MIM:300863
ORDO:163966