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rhizomelic chondrodysplasia punctata type 5
Disease Summary
Associated Targets (1)
Tbio
1
Mondo Description Any rhizomelic chondrodysplasia punctata in which the cause of the disease is a mutation in the PEX5 gene.
Uniprot Description A form of rhizomelic chondrodysplasia punctata, a disease characterized by severely disturbed endochondral bone formation, rhizomelic shortening of femur and humerus, vertebral disorders, dwarfism, cataract, cutaneous lesions, facial dysmorphism, and severe mental retardation with spasticity.
Disease Ontology Description A rhizomelic chondrodysplasia punctata that has material basis in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the PEX5 gene on chromosome 12p13.31.
Mondo Term and Equivalent IDs
MONDO:0014743: rhizomelic chondrodysplasia punctata type 5
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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.
Description from Disease Ontology
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:0110854
OMIM:616716
Orphanet:468717
UMLS:C4225237
MONDO:0014743
High level summary of knowledge for a disease, including descriptions and datasource references.