Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024
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Preferred Name

GAUCHER DISEASE, PERINATAL LETHAL
Synonyms

GAUCHER DISEASE, COLLODION TYPE
ID

http://purl.bioontology.org/ontology/OMIM/608013
altLabel

GAUCHER DISEASE, COLLODION TYPE
cui

C1842704
Gene Locus

1q21
Gene Symbol

GBA
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU000766

http://purl.bioontology.org/ontology/OMIM/MTHU002588

http://purl.bioontology.org/ontology/OMIM/MTHU001744

http://purl.bioontology.org/ontology/OMIM/MTHU000781

http://purl.bioontology.org/ontology/OMIM/MTHU000229

http://purl.bioontology.org/ontology/OMIM/MTHU002605

http://purl.bioontology.org/ontology/OMIM/MTHU036377

http://purl.bioontology.org/ontology/OMIM/MTHU000263

http://purl.bioontology.org/ontology/OMIM/MTHU036340

http://purl.bioontology.org/ontology/OMIM/MTHU002609

http://purl.bioontology.org/ontology/OMIM/MTHU000506

http://purl.bioontology.org/ontology/OMIM/MTHU020425

http://purl.bioontology.org/ontology/OMIM/MTHU000576

http://purl.bioontology.org/ontology/OMIM/MTHU002601

http://purl.bioontology.org/ontology/OMIM/MTHU033304

http://purl.bioontology.org/ontology/OMIM/MTHU000316

http://purl.bioontology.org/ontology/OMIM/MTHU001649

http://purl.bioontology.org/ontology/OMIM/MTHU001049

http://purl.bioontology.org/ontology/OMIM/MTHU036393

http://purl.bioontology.org/ontology/OMIM/MTHU001204

http://purl.bioontology.org/ontology/OMIM/MTHU000135

http://purl.bioontology.org/ontology/OMIM/MTHU000212

http://purl.bioontology.org/ontology/OMIM/MTHU002592

http://purl.bioontology.org/ontology/OMIM/MTHU002599

http://purl.bioontology.org/ontology/OMIM/MTHU036357

http://purl.bioontology.org/ontology/OMIM/MTHU002607

http://purl.bioontology.org/ontology/OMIM/MTHU036919

http://purl.bioontology.org/ontology/OMIM/MTHU002608

http://purl.bioontology.org/ontology/OMIM/MTHU036443

http://purl.bioontology.org/ontology/OMIM/MTHU001172

http://purl.bioontology.org/ontology/OMIM/MTHU002611

http://purl.bioontology.org/ontology/OMIM/MTHU000389

http://purl.bioontology.org/ontology/OMIM/MTHU000261

http://purl.bioontology.org/ontology/OMIM/MTHU000702

http://purl.bioontology.org/ontology/OMIM/MTHU001305

http://purl.bioontology.org/ontology/OMIM/MTHU000265

http://purl.bioontology.org/ontology/OMIM/MTHU002602

http://purl.bioontology.org/ontology/OMIM/MTHU036439

http://purl.bioontology.org/ontology/OMIM/MTHU054462

http://purl.bioontology.org/ontology/OMIM/MTHU002604

http://purl.bioontology.org/ontology/OMIM/MTHU002168

http://purl.bioontology.org/ontology/OMIM/MTHU000091

http://purl.bioontology.org/ontology/OMIM/MTHU038242

http://purl.bioontology.org/ontology/OMIM/MTHU036371

http://purl.bioontology.org/ontology/OMIM/MTHU002587

http://purl.bioontology.org/ontology/OMIM/MTHU002589

http://purl.bioontology.org/ontology/OMIM/MTHU002591

http://purl.bioontology.org/ontology/OMIM/MTHU002595

http://purl.bioontology.org/ontology/OMIM/MTHU002596

http://purl.bioontology.org/ontology/OMIM/MTHU002586

http://purl.bioontology.org/ontology/OMIM/MTHU037219

http://purl.bioontology.org/ontology/OMIM/MTHU042878

http://purl.bioontology.org/ontology/OMIM/MTHU001746

http://purl.bioontology.org/ontology/OMIM/MTHU000242

http://purl.bioontology.org/ontology/OMIM/MTHU002606
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

608013
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

GAUCHER DISEASE, PERINATAL LETHAL
Scope Statement

Most severe form of Gaucher disease [MISCELLANEOUS]

Considered to be a severe form of Gaucher disease type II (230900) [MISCELLANEOUS]

Hydrops fetalis is associated with death in utero (90%) or within 2 days of birth [MISCELLANEOUS]

Death in utero (30%) [MISCELLANEOUS]

In the absence of hydrops, death occurs within 3 months [MISCELLANEOUS]

Caused by mutation in the acid beta-glucosidase gene (GBA, 606463.0004) [MOLECULAR BASIS]
tui

T047
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