Terminology Service < Semantic Lookup Platform

Cystinosis

http://purl.bioontology.org/ontology/MESH/D003554

A metabolic disease characterized by the defective transport of CYSTINE across the lysosomal membrane due to mutation of a membrane protein cystinosin. This results in cystine accumulation and crystallization in the cells causing widespread tissue damage. In the KIDNEY, nephropathic cystinosis is a common cause of RENAL FANCONI SYNDROME.

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Instance info

Synonyms

Cystine Diathesis, Cystinoses, Nephropathic, Nephropathic Cystinoses, Cystine Diatheses, Cystine Diseases, Storage Diseases, Cystine, Cystine Storage Disease, Defect of Cystinosin, Cystine Disease, Lysosomal Cystine Transport Protein, Defect Of, Diatheses, Cystine, Cystinoses, Cystinosin, Defect of, Nephropathic Cystinosis, Cystine Storage Diseases, Cystinosis (DE), Cystinosis, Nephropathic, Diathesis, Cystine, Storage Disease, Cystine, Zystinose (DE)

AQL

BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI

19660101

MDA

19990101

MMR

20180521

C16.320.565.595.377,C18.452.648.595.377

http://purl.bioontology.org/ontology/MESH/Q000097,http://purl.bioontology.org/ontology/MESH/Q000175,http://purl.bioontology.org/ontology/MESH/Q000196,http://purl.bioontology.org/ontology/MESH/Q000150,http://purl.bioontology.org/ontology/MESH/Q000191,http://purl.bioontology.org/ontology/MESH/Q000139,http://purl.bioontology.org/ontology/MESH/Q000534,http://purl.bioontology.org/ontology/MESH/Q000378,http://purl.bioontology.org/ontology/MESH/Q000532,http://purl.bioontology.org/ontology/MESH/Q000235,http://purl.bioontology.org/ontology/MESH/Q000652,http://purl.bioontology.org/ontology/MESH/Q000178,http://purl.bioontology.org/ontology/MESH/Q000134,http://purl.bioontology.org/ontology/MESH/Q000453,http://purl.bioontology.org/ontology/MESH/Q000276,http://purl.bioontology.org/ontology/MESH/Q000451,http://purl.bioontology.org/ontology/MESH/Q000473,http://purl.bioontology.org/ontology/MESH/Q000000981,http://purl.bioontology.org/ontology/MESH/Q000517,http://purl.bioontology.org/ontology/MESH/Q000382,http://purl.bioontology.org/ontology/MESH/Q000601,http://purl.bioontology.org/ontology/MESH/Q000469,http://purl.bioontology.org/ontology/MESH/Q000821,http://purl.bioontology.org/ontology/MESH/Q000523,http://purl.bioontology.org/ontology/MESH/Q000401,http://purl.bioontology.org/ontology/MESH/Q000201,http://purl.bioontology.org/ontology/MESH/Q000145,http://purl.bioontology.org/ontology/MESH/Q000266,http://purl.bioontology.org/ontology/MESH/Q000662,http://purl.bioontology.org/ontology/MESH/Q000188,http://purl.bioontology.org/ontology/MESH/Q000628,http://purl.bioontology.org/ontology/MESH/Q000209,http://purl.bioontology.org/ontology/MESH/Q000208,http://purl.bioontology.org/ontology/MESH/Q000503

SIB

http://purl.bioontology.org/ontology/MESH/D044904,http://purl.bioontology.org/ontology/MESH/D020140,http://purl.bioontology.org/ontology/MESH/D015217,http://purl.bioontology.org/ontology/MESH/D058631,http://purl.bioontology.org/ontology/MESH/D054880,http://purl.bioontology.org/ontology/MESH/D009083

TERMUI

T834226,T811537,T010323,T782078,T811535,T782079,T782080,T841234,T817200

GHR (2014),ORD (2010),OMIM (2013),NLM (1966),NLM (2012)

cui

C4316899,C2931187

hasSTY

http://purl.bioontology.org/ontology/STY/T047

mapped from

http://purl.bioontology.org/ontology/MESH/C535335,http://purl.bioontology.org/ontology/MESH/C535765,http://purl.bioontology.org/ontology/MESH/C565655,http://purl.bioontology.org/ontology/MESH/C562683

tui

T047

Instance relations

Types

Class