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nephropathic cystinosis

^ http://purl.obolibrary.org/obo/MONDO_0100151

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 ]

Term info

database cross reference
  • NCIT:C129932 (MONDO:equivalentTo)
  • UMLS:C2930877 (MONDO:equivalentTo)
  • MESH:C535335 (MONDO:equivalentTo)
  • OMIM:219800 (Orphanet:411629)
abbreviation
CTNS [ OMIM:219800 ]

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/4521

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://purl.obolibrary.org/obo/NCIT_C129932, https://omim.org/entry/219800

has exact synonym

Abderhalden-Kaufmann-Lignac syndrome, Abderhalden-Lignac-Kaufmann disease, cystinosis, atypical nephropathic, cystinosis, nephropathic, CTNS, Abderhalden Kaufmann Lignac syndrome, Abderhalden Lignac Kaufmann disease

id

MONDO:0100151

Term relations