cystinosis
lysosomal storage disease characterized by the abnormal accumulation of cystine in lysosomes
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Summary
cystinosis is a rare disease[1]. cystinosis draws 1,845 Wikipedia views per month (rare_disease category, ranking #103 of 627).[2]
Key Facts
- cystinosis's instance of is recorded as rare disease[3].
- cystinosis's instance of is recorded as class of disease[4].
- cystinosis is a type of lysosomal storage disease[5].
- cystinosis is a type of inborn disorder of lysosomal amino acid transport[6].
- cystinosis is a type of genetic disease[7].
- cystinosis is a type of autosomal recessive disease[8].
- cystinosis's Commons category is recorded as Cystinosis[9].
- cystinosis's described by source is recorded as The Unified Medical Dictionary (Librairie du Liban, 2009)[10].
- cystinosis's NCI Thesaurus ID is recorded as C129932[11].
- cystinosis's NCI Thesaurus ID is recorded as C2976[12].
- cystinosis's health specialty is recorded as endocrinology[13].
- cystinosis's drug or therapy used for treatment is recorded as cysteamine[14].
- cystinosis's drug or therapy used for treatment is recorded as cysteamine[15].
- cystinosis's genetic association is recorded as CTNS[16].
- cystinosis's exact match is recorded as http://purl.obolibrary.org/obo/DOID_1064[17].
- cystinosis's exact match is recorded as http://identifiers.org/doid/DOID:1064[18].
- cystinosis's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_213[19].
- cystinosis's on focus list of Wikimedia project is recorded as WikiProject Medicine[20].
Why It Matters
cystinosis draws 1,845 Wikipedia views per month (rare_disease category, ranking #103 of 627).[2] cystinosis has Wikipedia articles in 16 language editions, a strong signal of global cultural recognition.[21] cystinosis is known by 40 alternative names across languages and contexts.[22]