Medical Subject Headings

Last uploaded: August 27, 2019
Preferred Name

Gaucher Disease

Synonyms

Lipidosis Syndrome, Cerebroside

Definitions

This type usually shows severe neurological effect in the first year of life.

ID

http://purl.bioontology.org/ontology/MESH/D005776

altLabel

Lipidosis Syndrome, Cerebroside

Gaucher Disease, Non Neuronopathic Form

Gaucher Disease, Acute Neuronopathic Type

Cerebroside Lipidosis Syndromes

Disease, Chronic Gaucher

Deficiencies, GBA

Glucosylceramide Beta-Glucosidase Deficiency

Gaucher Disease, Type 2

Diseases, Glucocerebrosidase Deficiency

Syndrome, Cerebroside Lipidosis

Gaucher Disease, Non-Neuronopathic Form

Gaucher Splenomegaly

Glucosyl Cerebroside Lipidosis

Glucosylceramide Lipidosis

Disease, Juvenile Gaucher

Lipoid Histiocytosis (Kerasin Type)

Lipidoses, Glucosylceramide

Kerasin Lipoidosis

Lipoidosis, Kerasin

thesaurismoses, Kerasin

Cerebroside Lipidoses, Glucosyl

Gaucher Disease Type 1

Type 3 Gaucher Disease

Deficiency, Glucocerebrosidase

Acid beta-Glucosidase Deficiency

Gaucher Disease, Subacute Neuronopathic Form

Lipoidoses, Kerasin

Histiocytosis, Kerasin

Deficiency Diseases, Glucocerebrosidase

Disease, Glucocerebrosidase Deficiency

Type 1 Gaucher Disease

Lipoid Histiocytoses (Kerasin Type)

Disease, Infantile Gaucher

Gaucher Disease, Type 1

Gauchers Disease

Non-Neuronopathic Gaucher Disease

Gaucher Disease, Noncerebral Juvenile

Syndromes, Cerebroside Lipidosis

Glucosylceramide Lipidoses

Histiocytoses, Kerasin

Diseases, Gauchers

Splenomegaly, Gaucher

Deficiency Disease, Glucocerebrosidase

Disease, Gaucher's

Neuronopathic Gaucher Disease

thesaurismosis, Kerasin

Deficiency, GBA

Gaucher Disease, Juvenile and Adult, Cerebral

Histiocytosis, Lipoid (Kerasin Type)

Gaucher Disease, Neuronopathic

Disease, Gauchers

Gaucher's Disease

Gaucher Disease, Juvenile

Disease, Neuronopathic Gaucher

Glucosylceramide Beta-Glucosidase Deficiency Disease

Chronic Gaucher Disease

Gaucher Disease Type 2

Disease, Non-Neuronopathic Gaucher

Syndrome, Gaucher

GBA Deficiencies

Glucosyl Cerebroside Lipidoses

Gaucher Disease, Non-Neuronopathic

Kerasin Lipoidoses

Non Neuronopathic Gaucher Disease

Gaucher Syndrome

Gauchers Diseases

Lipidosis, Glucosylceramide

Gaucher Disease, Type II

Gaucher Disease, Infantile Cerebral

Juvenile Gaucher Disease

Cerebroside Lipidosis, Glucosyl

Glucosylceramidase Deficiency

Glucocerebrosidoses

Lipidosis Syndromes, Cerebroside

Infantile Gaucher Disease

Gaucher Disease, Type I

Deficiencies, Glucocerebrosidase

Glucocerebrosidosis

Gaucher Disease, Infantile

GBA Deficiency

Gaucher Disease Type 3

Kerasin thesaurismosis

Disease, Gaucher

Histiocytoses, Lipoid (Kerasin Type)

Gaucher Disease, Subacute Neuronopathic Type

Kerasin Histiocytosis

Kerasin Histiocytoses

Gaucher Disease, Type III

Cerebroside Lipidosis Syndrome

Gaucher Disease, Chronic

Lipidosis, Glucosyl Cerebroside

Gaucher Disease, Chronic Neuronopathic Type

Type 2 Gaucher Disease

Glucocerebrosidase Deficiencies

Gaucher Disease, Type 3

Subacute Neuronopathic Gaucher Disease

Kerasin thesaurismoses

Acid beta-Glucosidase Deficiency Disease

Acute Neuronopathic Gaucher Disease

Glucocerebrosidase Deficiency

Gaucher Disease, Acute Neuronopathic

Glucocerebrosidase Deficiency Disease

Lipidoses, Glucosyl Cerebroside

Glucocerebrosidase Deficiency Diseases

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

cui

C1961835

C0268251

C0017205

C0268250

DC

1

definition

This type usually shows severe neurological effect in the first year of life.

An autosomal recessive disorder caused by a deficiency of acid beta-glucosidase (GLUCOSYLCERAMIDASE) leading to intralysosomal accumulation of glycosylceramide mainly in cells of the MONONUCLEAR PHAGOCYTE SYSTEM. The characteristic Gaucher cells, glycosphingolipid-filled HISTIOCYTES, displace normal cells in BONE MARROW and visceral organs causing skeletal deterioration, hepatosplenomegaly, and organ dysfunction. There are several subtypes based on the presence and severity of neurological involvement.

This type shows moderate to severe neurological effect in childhood.

This type afflicts both children and adults who show no neurological effect. It is more prevalent in people of Ashkenazi Jewish ancestry.

DX

20000101

FX

D005962

HN

2000(1966)

Inverse of AQ

http://purl.bioontology.org/ontology/MESH/Q000401

http://purl.bioontology.org/ontology/MESH/Q000150

http://purl.bioontology.org/ontology/MESH/Q000188

http://purl.bioontology.org/ontology/MESH/Q000517

http://purl.bioontology.org/ontology/MESH/Q000201

http://purl.bioontology.org/ontology/MESH/Q000145

http://purl.bioontology.org/ontology/MESH/Q000503

http://purl.bioontology.org/ontology/MESH/Q000453

http://purl.bioontology.org/ontology/MESH/Q000208

http://purl.bioontology.org/ontology/MESH/Q000134

http://purl.bioontology.org/ontology/MESH/Q000821

http://purl.bioontology.org/ontology/MESH/Q000382

http://purl.bioontology.org/ontology/MESH/Q000601

http://purl.bioontology.org/ontology/MESH/Q000235

http://purl.bioontology.org/ontology/MESH/Q000523

http://purl.bioontology.org/ontology/MESH/Q000276

http://purl.bioontology.org/ontology/MESH/Q000191

http://purl.bioontology.org/ontology/MESH/Q000652

http://purl.bioontology.org/ontology/MESH/Q000662

http://purl.bioontology.org/ontology/MESH/Q000628

http://purl.bioontology.org/ontology/MESH/Q000196

http://purl.bioontology.org/ontology/MESH/Q000534

http://purl.bioontology.org/ontology/MESH/Q000266

http://purl.bioontology.org/ontology/MESH/Q000532

http://purl.bioontology.org/ontology/MESH/Q000139

http://purl.bioontology.org/ontology/MESH/Q000378

http://purl.bioontology.org/ontology/MESH/Q000175

http://purl.bioontology.org/ontology/MESH/Q000000981

http://purl.bioontology.org/ontology/MESH/Q000097

http://purl.bioontology.org/ontology/MESH/Q000473

http://purl.bioontology.org/ontology/MESH/Q000451

http://purl.bioontology.org/ontology/MESH/Q000209

http://purl.bioontology.org/ontology/MESH/Q000178

http://purl.bioontology.org/ontology/MESH/Q000469

Inverse of RO

http://purl.bioontology.org/ontology/MESH/D005962

Inverse of SIB

http://purl.bioontology.org/ontology/MESH/D009542

http://purl.bioontology.org/ontology/MESH/D052516

http://purl.bioontology.org/ontology/MESH/D012618

http://purl.bioontology.org/ontology/MESH/D007965

http://purl.bioontology.org/ontology/MESH/D000795

http://purl.bioontology.org/ontology/MESH/D055577

http://purl.bioontology.org/ontology/MESH/D005733

Machine permutation

2000; see GAUCHER'S DISEASE 1966-1999; for GAUCHER DISEASE see GAUCHER'S DISEASE 1966-1999

Mapped from

http://purl.bioontology.org/ontology/MESH/C537675

http://purl.bioontology.org/ontology/MESH/C566435

http://purl.bioontology.org/ontology/MESH/C565555

http://purl.bioontology.org/ontology/MESH/C531689

http://purl.bioontology.org/ontology/MESH/C565554

http://purl.bioontology.org/ontology/MESH/C565556

http://purl.bioontology.org/ontology/MESH/C565553

http://purl.bioontology.org/ontology/MESH/C564306

MDA

19990101

MMR

20130708

MN

C18.452.648.189.435.825.400

C18.452.584.687.803.441

C16.320.565.189.435.825.400

C18.452.648.595.554.825.400

C10.228.140.163.100.435.825.400

C16.320.565.595.554.825.400

C18.452.132.100.435.825.400

C18.452.648.398.641.803.441

C16.320.565.398.641.803.441

notation

D005776

prefLabel

Gaucher Disease

TERMUI

T781824

T750613

T841483

T368335

T812687

T368324

T781825

T017405

T782941

T368311

T368308

T841488

T017404

T824500

T841480

T368332

T368329

T841479

T841481

T841487

T368323

T647675

T368337

T824502

T368333

T841478

T368328

T368322

T368309

T841486

T782944

T368338

T824501

T368330

T841477

T770091

T781823

T750612

T841485

T368331

T368318

T368334

T368312

T368316

T750614

T782943

T368310

T841484

T368336

T782942

T368320

T841482

TH

NLM (2011)

UNK (19XX)

NLM (2000)

NLM (1966)

NLM (2010)

NLM (2007)

NLM (2014)

NLM (2012)

ORD (2010)

OMIM (2013)

GHR (2014)

tui

T047

subClassOf

http://purl.bioontology.org/ontology/MESH/D013106

Delete Subject Author Type Created
No notes to display
Create New Mapping

Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MDRFRE/10018446 MDRFRE CUI
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.648.189.435.825.400 RH-MESH LOOM
http://radlex.org/RID/RID34415 RADLEX LOOM
http://purl.bioontology.org/ontology/SCTSPA/190794006 SCTSPA CUI
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.584.687.803.441 RH-MESH LOOM
http://purl.bioontology.org/ontology/MEDDRA/10018048 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRFRE/10075697 MDRFRE CUI
http://purl.bioontology.org/ontology/RCD/X40VE RCD CUI
http://purl.bioontology.org/ontology/SNMI/D6-74120 SNMI CUI
http://www.orpha.net/ORDO/Orphanet_355 CCONT LOOM
http://www.orpha.net/ORDO/Orphanet_355 EFO LOOM
http://www.orpha.net/ORDO/Orphanet_355 EFO LOOM
http://www.orpha.net/ORDO/Orphanet_355 ORDO LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/190794006 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MEDDRA/10075698 MEDDRA CUI
http://identifiers.org/omim/230800 RETO LOOM
http://identifiers.org/omim/230800 GEXO LOOM
http://identifiers.org/omim/230800 REXO LOOM
http://purl.bioontology.org/ontology/LNC/LA14039-4 LOINC CUI
http://purl.bioontology.org/ontology/LNC/LA14039-4 LOINC LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Gaucher_Disease CSEO LOOM
http://purl.bioontology.org/ontology/NDFRT/N0000001322 NDFRT CUI
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.648.595.554.825.400 RH-MESH LOOM
http://bmi.utah.edu/ontologies/hfontology/C0017205 HFO LOOM
http://purl.bioontology.org/ontology/ICD10CM/E75.22 ICD10CM CUI
http://purl.bioontology.org/ontology/ICD10CM/E75.22 ICD10CM LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.565.189.435.825.400 RH-MESH LOOM
http://purl.bioontology.org/ontology/RCD/C3271 RCD CUI
http://purl.bioontology.org/ontology/SCTSPA/12246008 SCTSPA CUI
http://www.limics.org/hrdo/rdfns#pat_id_644 HRDO LOOM
http://purl.bioontology.org/ontology/MDRFRE/10075699 MDRFRE CUI
http://purl.bioontology.org/ontology/SNOMEDCT/12246008 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0017205 MEDLINEPLUS CUI
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0017205 MEDLINEPLUS LOOM
http://purl.bioontology.org/ontology/MEDDRA/10018446 MEDDRA CUI
http://purl.bioontology.org/ontology/OMIM/606463 OMIM CUI
http://purl.bioontology.org/ontology/OMIM/606463 OMIM CUI
http://purl.bioontology.org/ontology/OMIM/606463 OMIM CUI
http://purl.bioontology.org/ontology/SNOMEDCT/5963005 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SNMI/D6-74110 SNMI CUI
http://purl.bioontology.org/ontology/SNMI/D6-74110 SNMI CUI
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.565.595.554.825.400 RH-MESH LOOM
http://www.co-ode.org/ontologies/galen#GaucherDisease GALEN LOOM
http://purl.bioontology.org/ontology/SCTSPA/180485001 SCTSPA CUI
http://purl.bioontology.org/ontology/RCD/X40VF RCD CUI
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.565.398.641.803.441 RH-MESH LOOM
http://www.gamuts.net/entity#Gaucher_disease GAMUTS LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.132.100.435.825.400 RH-MESH LOOM
http://purl.bioontology.org/ontology/SCTSPA/62201009 SCTSPA CUI
http://purl.bioontology.org/ontology/SCTSPA/62201009 SCTSPA CUI
http://purl.bioontology.org/ontology/MSHFRE/D005776 MSHFRE CUI
http://purl.bioontology.org/ontology/MSHFRE/D005776 MSHFRE CUI
http://purl.bioontology.org/ontology/MSHFRE/D005776 MSHFRE CUI
http://purl.bioontology.org/ontology/MSHFRE/D005776 MSHFRE CUI
http://purl.obolibrary.org/obo/DERMO_0000525 DERMO LOOM
http://purl.bioontology.org/ontology/MDRFRE/10018048 MDRFRE CUI
http://purl.obolibrary.org/obo/MONDO_0018150 MONDO LOOM
http://purl.bioontology.org/ontology/LNC/LP113916-3 LOINC CUI
http://purl.bioontology.org/ontology/LNC/LP113916-3 LOINC LOOM
http://www.owl-ontologies.com/unnamed.owl#RID18218 DERMLEX LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.648.398.641.803.441 RH-MESH LOOM
http://purl.bioontology.org/ontology/OMIM/231000 OMIM CUI
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D005776 RH-MESH LOOM
http://purl.bioontology.org/ontology/MEDDRA/10075699 MEDDRA CUI
http://www.semanticweb.org/rjyy/ontologies/2015/5/ESSO#Gaucher_Disease ESSO LOOM
http://doe-generated-ontology.com/OntoAD#C0017205 ONTOAD LOOM
http://purl.bioontology.org/ontology/MEDDRA/10075697 MEDDRA CUI
http://sbmi.uth.tmc.edu/ontology/ochv#5396 OCHV LOOM
http://purl.bioontology.org/ontology/OMIM/230800 OMIM CUI
http://purl.bioontology.org/ontology/LNC/MTHU036947 LOINC CUI
http://purl.bioontology.org/ontology/LNC/MTHU036947 LOINC LOOM
http://purl.bioontology.org/ontology/RCD/X40VD RCD CUI
http://purl.bioontology.org/ontology/OMIM/230900 OMIM CUI
http://purl.bioontology.org/ontology/CSP/1849-8920 CRISP CUI
http://purl.bioontology.org/ontology/SNOMEDCT/62201009 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SNOMEDCT/62201009 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SNOMEDCT/180485001 SNOMEDCT CUI
http://purl.jp/bio/4/id/200906058846250543 IOBC LOOM
http://purl.bioontology.org/ontology/SNMI/D6-74130 SNMI CUI
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C61268 NCIT LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C61268 NCIT LOOM
http://purl.bioontology.org/ontology/MDRFRE/10075698 MDRFRE CUI
http://purl.bioontology.org/ontology/SCTSPA/5963005 SCTSPA CUI
http://purl.bioontology.org/ontology/SNMI/D6-74100 SNMI CUI
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.228.140.163.100.435.825.400 RH-MESH LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU012847 OMIM CUI