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rhizomelic chondrodysplasia punctata type 5
Summary
- Synonym
-
- Rcdp5
- Definition
- 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.
- Super Class
- rhizomelic chondrodysplasia punctata
External Links
- Disease Ontology
- DOID:0110854
- Mondo Disease Ontology
- ORDO
- OMIM
- WikiPathways (from TogoID)
