Rhizomelic chondrodysplasia punctata type 5
MONDO:0014743Any rhizomelic chondrodysplasia punctata in which the cause of the disease is a mutation in the PEX5 gene.
Also known as: PEX5 rhizomelic chondrodysplasia punctata, RCDP5, Rcdp5, rhizomelic chondrodysplasia punctata caused by mutation in PEX5, rhizomelic chondrodysplasia punctata type 5, rhizomelic chondrodysplasia punctata, type 5
9 clinical trials for this condition and its sub-types.
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Disease
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Metabolic disease
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Nervous system disorder
(231)
Musculoskeletal system disorder
(207)
Inherited lipid metabolism disorder
(189)
Hereditary disease
(176)
Neurodegenerative disease
(171)
Peripheral nervous system disorder
(114)
Central nervous system disorder
(107)
Neuromuscular disease
(106)