Gaucher's disease

human disease characterized by deficiency of the enzyme glucocerebrosidase which results in the accumulation of harmful quantities of the glycolipid glucocerebroside throughout the body

Wikidata entity: Q861645

Wikimedia Commons category is Gaucher's disease

Quantities

P1193prevalence0.00001225

P373 Commons category String Gaucher's disease ???
P2176 drug or therapy used for treatment ... Q418508 (cycloserine) cycloserine
P2176 drug or therapy used for treatment ... Q425911 (miglustat) miglustat
P2176 drug or therapy used for treatment ... Q21011224 (eliglustat) eliglustat
P2176 drug or therapy used for treatment ... Q2620206 (imiglucerase) imiglucerase
P2176 drug or therapy used for treatment ... Q3492447 (velaglucerase alfa) velaglucerase alfa
P2888 exact match Url Ontology Lookup Service (OLS) ???
P2888 exact match Url Ontology Lookup Service (OLS) ???
P2888 exact match Url None ???
P2293 genetic association ... Q14914243 (PSAP) PSAP
P2293 genetic association ... Q14878770 (GBA) GBA
P2293 genetic association ... Q14897880 (NTRK3) NTRK3
P1995 health specialty ... Q83042 (neurology) neurology
P1995 health specialty ... Q162606 (endocrinology) endocrinology
P31 instance of ... Q929833 (rare disease) rare disease
P31 instance of ... Q112193867 (class of disease) class of disease
P138 named after ... Q2633182 (Philippe Gaucher) Philippe Gaucher
P1748 NCI Thesaurus ID String C61268 ???
P5008 on focus list of Wikimedia project ... Q4099686 (WikiProject Medicine) WikiProject Medicine
P989 spoken text audio CommonsMedia http://commons.wikimedia.org/wiki/Special:FilePath/WP%20reading%20Gauchers%20disease.ogg ???
P279 subclass of ... Q12136 (disease) disease
P279 subclass of ... Q2309612 (sphingolipidosis) sphingolipidosis
External Ids
P9272DeCS ID5916
P699Disease Ontology IDDOID:1926
P557DiseasesDB5124
P673eMedicine ID944157
P1417Encyclopædia Britannica Online IDscience/Gaucher-disease
P3219Encyclopædia Universalis IDmaladie-de-gaucher
P646Freebase ID/m/02qj4j
P4317GARD rare disease ID8233
P668GeneReviews IDNBK1269
P7464Genetics Home Reference Conditions IDgaucher-disease
P4229ICD-10-CME75.2
P4229ICD-10-CME75.22
P7807ICD-11 ID (Foundation)1923566939
P665KEGG IDH00126
P244Library of Congress authority IDsh85053526
P604MedlinePlus ID000564
P604MedlinePlus ID000564
P486MeSH descriptor IDD005776
P672MeSH tree codeC10.228.140.163.100.435.825.400
P672MeSH tree codeC16.320.565.189.435.825.400
P672MeSH tree codeC16.320.565.398.641.803.441
P672MeSH tree codeC16.320.565.595.554.825.400
P672MeSH tree codeC18.452.132.100.435.825.400
P672MeSH tree codeC18.452.584.563.641.803.441
P672MeSH tree codeC18.452.648.189.435.825.400
P672MeSH tree codeC18.452.648.398.641.803.441
P672MeSH tree codeC18.452.648.595.554.825.400
P5270Mondo IDMONDO_0018150
P8189National Library of Israel J9U ID987012431025105171
P349NDL Authority ID00576302
P492OMIM ID230800
P492OMIM ID230800
P10283OpenAlex IDC2776723260
P1550Orphanet ID355
P1461Patientplus IDgauchers-disease-pro
P4233PatientsLikeMe condition IDgaucher-s-disease
P2892UMLS CUIC0017205
P11430UniProt disease IDDI-03092
P11143WikiProjectMed IDGaucher's disease
P13591Yale LUX IDconcept/d1798d6d-26e2-49d1-b323-ff845bf41acd

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