GenTIGSA Gene Database on Rare Genetic Disorders
X-linked Chondrodysplasia Punctata 1  
Disease Aliases (24)

Arse x-linked chondrodysplasia punctata

Arylsulfatase e deficiency

Bcdp

Bcdp - brachytelephalangic chondrodysplasia punctata

Brachytelephalangic chondrodysplasia punctata

Cdpx1

Cdxp1

Chondrodysplasia punctata due to vitamin k deficiency

Chondrodysplasia punctata due to warfarin teratogenicity

Chondrodysplasia punctata, brachytelephalangic

Cpxr

Chondrodysplasia punctata 1, x-linked

Chondrodysplasia punctata 1 x-linked recessive

Chondrodysplasia punctata 1, x-linked recessive

Chondrodysplasia punctata sheffield type

Chondrodysplasia punctata brachytelephalangic

Chondrodysplasia punctata, sheffield type

X-linked recessive chondrodysplasia punctata 1

X-linked chondrodysplasia punctata 1

X-linked chondrodysplasia punctata caused by mutation in arse

Autosomal dominant chondrodysplasia punctata

Chondrodysplasia punctata 1, x-linked recessive; cdpx1

Chondrodysplasia punctata, autosomal dominant

Chondrodysplasia punctata, brachytelephalangic, autosomal

Associated Genes (1)
 

NCBI-RefSeq:  ARSL   (Arylsulfatase L)

External Links:  gnomAD browser   Ensembl   GeneCards

 


Cross-references of X-linked chondrodysplasia punctata 1 OMIM GARD Orphanet NCBI-GTR NCBI-MedGen MalaCards      MeSH Annotations