An autosomal recessive condition caused by mutation(s) in the CTNS gene, encoding cystinosin. It is a sub-type of cystinosis, in which accumulation of cystine in the kidney results in renal dysfunction. [ NCIT:C129932 ]

This is just here as a test because I lose it

Term information

database cross reference
definition

An autosomal recessive condition caused by mutation(s) in the CTNS gene, encoding cystinosin. It is a sub-type of cystinosis, in which accumulation of cystine in the kidney results in renal dysfunction.

exactMatch

http://linkedlifedata.com/resource/umls/id/C2930877

http://identifiers.org/mesh/C535335

http://identifiers.org/omim/219800

http://purl.obolibrary.org/obo/NCIT_C129932

has exact synonym

Abderhalden-Kaufmann-Lignac syndrome

Abderhalden-Lignac-Kaufmann disease

cystinosis, nephropathic

CTNS

Abderhalden Kaufmann Lignac syndrome

Abderhalden Lignac Kaufmann disease

id

MONDO:0100151