Preferred Name

GALACTOSYLCERAMIDASE

Synonyms

KRABBE DISEASE

ID

http://purl.bioontology.org/ontology/OMIM/606890

altLabel

KRABBE DISEASE

GALC

GALACTOCEREBROSIDASE

cui

C1414946

C0023521

Gene Locus

14q31

Gene Symbol

GALC

Has allelic variant

http://purl.bioontology.org/ontology/OMIM/606890.0006

http://purl.bioontology.org/ontology/OMIM/606890.0007

http://purl.bioontology.org/ontology/OMIM/606890.0008

http://purl.bioontology.org/ontology/OMIM/606890.0010

http://purl.bioontology.org/ontology/OMIM/606890.0002

http://purl.bioontology.org/ontology/OMIM/606890.0003

http://purl.bioontology.org/ontology/OMIM/606890.0004

http://purl.bioontology.org/ontology/OMIM/606890.0005

http://purl.bioontology.org/ontology/OMIM/606890.0009

http://purl.bioontology.org/ontology/OMIM/606890.0001

MIMTYPEMEANING

Gene with known sequence

notation

606890

OMIM Entry Type

1

OMIM MimType Value

star

prefLabel

GALACTOSYLCERAMIDASE

tui

T028

T047

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http://purl.bioontology.org/ontology/LNC/LP113917-1 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/MTHU010960 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/D007965 Medical Subject Headings / 医学主题词表 CUI
http://purl.bioontology.org/ontology/ICD10CM/E75.23 International Classification of Diseases, Version 10 - Clinical Modification / 国际疾病分类,第10版-临床修改 CUI
http://purl.bioontology.org/ontology/LNC/LP14027-4 Logical Observation Identifier Names and Codes / 逻辑观察标识符名称和代码 LOOM
http://purl.bioontology.org/ontology/LNC/LA14038-6 Logical Observation Identifier Names and Codes / 逻辑观察标识符名称和代码 CUI
http://purl.bioontology.org/ontology/MESH/D005698 Medical Subject Headings / 医学主题词表 LOOM
http://www.orpha.net/ORDO/Orphanet_121995 Orphanet Rare Disease Ontology / Orphanet罕见病本体 LOOM
http://purl.bioontology.org/ontology/LNC/LP208435-0 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/MTHU036944 Logical Observation Identifier Names and Codes / 逻辑观察标识符名称和代码 CUI