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X-linked chondrodysplasia punctata 2

Disease Summary
Associated Targets (1)
Tchem

1


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Mondo Description X-linked dominant chondrodysplasia punctata (CDPX2) is a rare genodermatosis with great phenotypic variation and characterized most commonly by ichthyosis, chondrodysplasia punctata (CDP), asymmetric shortening of the limbs, cataracts and short stature.
Disease Ontology Description A chondrodysplasia puncata that has_material_basis_in mutation in the gene encoding delta(8)-delta(7) sterol isomerase emopamil-binding protein on chromosome Xp11.
Mondo Term and Equivalent IDs
MONDO:0020603:  X-linked chondrodysplasia punctata 2
GARD:0006189: 
Orphanet:35173: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)