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X-linked dominant chondrodysplasia, Chassaing-Lacombe type
Disease Summary
Associated Targets (1)
Tclin
1
Mondo Description X-linked dominant chondrodysplasia Chassaing-Lacombe type is a rare genetic bone disorder characterized by chondrodysplasia, intrauterine growth retardation (IUGR), hydrocephaly and facial dysmorphism in the affected males.
Uniprot Description A disease characterized by chondrodysplasia, severe platyspondyly, hydrocephaly, and facial features with microphthalmia. Bone abnormalities include a distinctive metaphyseal cupping of the metacarpals, metatarsals, and phalanges. Affected females show a milder phenotype with small stature, sometimes associated with body asymmetry and mild mental retardation.
Mondo Term and Equivalent IDs
MONDO:0010463: X-linked dominant chondrodysplasia, Chassaing-Lacombe type
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Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
OMIM:300863
Orphanet:163966
SCTID:719837003
UMLS:C3275476
MONDO:0010463
High level summary of knowledge for a disease, including descriptions and datasource references.