OnlineIMD
Cystinosis
Synonym(s)
Cystinosis
Type
Disease
External link(s)
Orphanet
IEMbase
Gene
CTNS
/ Cystinosin
17p13.2
OMIM
GnomAD
Ensembl
HGNC
VMH
LOVD
Gene product
Lysosomal cystine transporter
Disease group(s)
1.11 Disorders of amino acid transport