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Preferred Name

FABRY DISEASE
Synonyms

HEREDITARY DYSTOPIC LIPIDOSIS
ID

http://purl.bioontology.org/ontology/OMIM/301500
altLabel

HEREDITARY DYSTOPIC LIPIDOSIS

CERAMIDE TRIHEXOSIDASE DEFICIENCY

ALPHA-GALACTOSIDASE A DEFICIENCY

ANGIOKERATOMA CORPORIS DIFFUSUM

FABRY DISEASE, CARDIAC VARIANT

GLA DEFICIENCY

ANDERSON-FABRY DISEASE
cui

C0002986

C1970820
Gene Locus

Xq22
Gene Symbol

GLA
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU025535

http://purl.bioontology.org/ontology/OMIM/MTHU025533

http://purl.bioontology.org/ontology/OMIM/MTHU001042

http://purl.bioontology.org/ontology/OMIM/MTHU008099

http://purl.bioontology.org/ontology/OMIM/MTHU008091

http://purl.bioontology.org/ontology/OMIM/MTHU003514

http://purl.bioontology.org/ontology/OMIM/MTHU000225

http://purl.bioontology.org/ontology/OMIM/MTHU008097

http://purl.bioontology.org/ontology/OMIM/MTHU008085

http://purl.bioontology.org/ontology/OMIM/MTHU008107

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

http://purl.bioontology.org/ontology/OMIM/MTHU008101

http://purl.bioontology.org/ontology/OMIM/MTHU008095

http://purl.bioontology.org/ontology/OMIM/MTHU025529

http://purl.bioontology.org/ontology/OMIM/MTHU005753

http://purl.bioontology.org/ontology/OMIM/MTHU061659

http://purl.bioontology.org/ontology/OMIM/MTHU025528

http://purl.bioontology.org/ontology/OMIM/MTHU061658

http://purl.bioontology.org/ontology/OMIM/MTHU025536

http://purl.bioontology.org/ontology/OMIM/MTHU036721

http://purl.bioontology.org/ontology/OMIM/MTHU025534

http://purl.bioontology.org/ontology/OMIM/MTHU025538

http://purl.bioontology.org/ontology/OMIM/MTHU025532

http://purl.bioontology.org/ontology/OMIM/MTHU008090

http://purl.bioontology.org/ontology/OMIM/MTHU000623

http://purl.bioontology.org/ontology/OMIM/MTHU008096

http://purl.bioontology.org/ontology/OMIM/MTHU008084

http://purl.bioontology.org/ontology/OMIM/MTHU008088

http://purl.bioontology.org/ontology/OMIM/MTHU008082

http://purl.bioontology.org/ontology/OMIM/MTHU002773

http://purl.bioontology.org/ontology/OMIM/MTHU008086

http://purl.bioontology.org/ontology/OMIM/MTHU002455

http://purl.bioontology.org/ontology/OMIM/MTHU008098

http://purl.bioontology.org/ontology/OMIM/MTHU025530

http://purl.bioontology.org/ontology/OMIM/MTHU036385

http://purl.bioontology.org/ontology/OMIM/MTHU008102

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

http://purl.bioontology.org/ontology/OMIM/MTHU036407

http://purl.bioontology.org/ontology/OMIM/MTHU000013

http://purl.bioontology.org/ontology/OMIM/MTHU002068

http://purl.bioontology.org/ontology/OMIM/MTHU025537

http://purl.bioontology.org/ontology/OMIM/MTHU025531

http://purl.bioontology.org/ontology/OMIM/MTHU008087
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

301500
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

FABRY DISEASE
Scope Statement

Atypical affected males, 'cardiac variants' 301500.0005 exist [MISCELLANEOUS]

Female carriers experience significant clinical manifestations [MISCELLANEOUS]

Death secondary to renal failure, cardiac or cerebrovascular disease [MISCELLANEOUS]

Caused by mutation in alpha-galactosidase A gene (GLA, 300644.0001) [MOLECULAR BASIS]

Occurs in at least 1 in 55,000 male births (that figure may not include milder variants) [MISCELLANEOUS]

Onset usually in childhood or adolescence [MISCELLANEOUS]
tui

T047
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http://purl.obolibrary.org/obo/DOID_14499 BioAssay Ontology / 生物活性分析本体 LOOM
http://purl.obolibrary.org/obo/DOID_14499 Human Disease Ontology / 人类疾病本体 LOOM
http://purl.bmicc.cn/ontology/ICD11CN/5C56.01 《国际疾病分类》第11版中文版 / International Classification of Diseases, 11th Edition, China LOOM
http://purl.bioontology.org/ontology/LNC/LA14036-0 Logical Observation Identifier Names and Codes / 逻辑观察标识符名称和代码 CUI
http://purl.bioontology.org/ontology/LNC/LA14036-0 Logical Observation Identifier Names and Codes / 逻辑观察标识符名称和代码 LOOM
http://purl.bioontology.org/ontology/ICD10CM/E75.21 International Classification of Diseases, Version 10 - Clinical Modification / 国际疾病分类，第10版-临床修改 CUI
http://www.orpha.net/ORDO/Orphanet_324 Orphanet Rare Disease Ontology / Orphanet罕见病本体 LOOM
http://purl.bioontology.org/ontology/LNC/LP113911-4 Logical Observation Identifier Names and Codes / 逻辑观察标识符名称和代码 CUI
http://purl.bioontology.org/ontology/LNC/LP113911-4 Logical Observation Identifier Names and Codes / 逻辑观察标识符名称和代码 LOOM
http://purl.bioontology.org/ontology/MESH/D000795 Medical Subject Headings / 医学主题词表 CUI
http://purl.bioontology.org/ontology/MESH/D000795 Medical Subject Headings / 医学主题词表 LOOM
http://purl.obolibrary.org/obo/MONDO_0010526 Mondo Disease Ontology / Mondo疾病本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0010526 Experimental Factor Ontology / 实验性因素本体 LOOM
http://purl.bioontology.org/ontology/MESH/C567062 Medical Subject Headings / 医学主题词表 CUI
http://purl.bioontology.org/ontology/LNC/MTHU036941 Logical Observation Identifier Names and Codes / 逻辑观察标识符名称和代码 CUI
http://purl.bioontology.org/ontology/LNC/MTHU036941 Logical Observation Identifier Names and Codes / 逻辑观察标识符名称和代码 LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84701 National Cancer Institute Thesaurus / 美国国家癌症研究所词典 LOOM