cystinosis

Summary

DOID:1064 - cystinosis

Disease Ontology Definition:A lysosomal storage disease characterized by the abnormal accumulation of cystine in the lysosomes. It follows an autosomal recessive inheritance pattern and that has_material_basis_in mutations in the CTNS gene, located on chromosome 17.

Synonyms: cystine storage disease

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: ctns

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0016239 - cystinosis

MONDO:0016239 - cystinosis

MIM:

MIM:219750 - CYSTINOSIS, ADULT NONNEPHROPATHIC
MIM:219800 - CYSTINOSIS, NEPHROPATHIC; CTNS
MIM:219900 - CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE

MIM:219750 - CYSTINOSIS, ADULT NONNEPHROPATHIC

MIM:219800 - CYSTINOSIS, NEPHROPATHIC; CTNS

MIM:219900 - CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive disease (is_a), lysosomal storage disease (is_a)