Preferred Name

MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY

Synonyms

GA2A

ID

http://purl.bioontology.org/ontology/OMIM/231680

altLabel

GA2A

ETHYLMALONIC-ADIPICACIDURIA

GA II

GLUTARIC ACIDEMIA IIA

ETFDH DEFICIENCY

GA2C

GLUTARIC ACIDEMIA IIB

ETFB DEFICIENCY

GLUTARIC ACIDURIA II

GLUTARIC ACIDEMIA II

GA2

GA2B

GLUTARIC ACIDEMIA IIC

ETFA DEFICIENCY

EMA

MADD

cui

C3278155

C3278156

C1856405

C0268596

C1856403

C3278154

C1856401

Gene Locus

15q23-q25

Gene Symbol

ETFA

GA2

MADD

MIMTYPEMEANING

Phenotype description, molecular basis known.

notation

231680

OMIM Entry Type

3

OMIM MimType Value

pound

prefLabel

MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY

tui

T047

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http://purl.bioontology.org/ontology/ICD10CM/E71.313 International Classification of Diseases, Version 10 - Clinical Modification / 国际疾病分类,第10版-临床修改 CUI
http://purl.obolibrary.org/obo/DOID_0060358 Human Disease Ontology / 人类疾病本体 LOOM
http://purl.bioontology.org/ontology/LNC/LA12495-0 Logical Observation Identifier Names and Codes / 逻辑观察标识符名称和代码 CUI
http://purl.obolibrary.org/obo/MONDO_0009282 Mondo Disease Ontology / Mondo疾病本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0009282 Experimental Factor Ontology / 实验性因素本体 LOOM
http://www.orpha.net/ORDO/Orphanet_26791 Orphanet Rare Disease Ontology / Orphanet罕见病本体 LOOM
http://purl.bioontology.org/ontology/MESH/D054069 Medical Subject Headings / 医学主题词表 CUI
http://purl.bioontology.org/ontology/MESH/D054069 Medical Subject Headings / 医学主题词表 CUI
http://purl.bioontology.org/ontology/MESH/D054069 Medical Subject Headings / 医学主题词表 CUI
http://purl.bioontology.org/ontology/MESH/D054069 Medical Subject Headings / 医学主题词表 CUI
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84907 National Cancer Institute Thesaurus / 美国国家癌症研究所词典 LOOM
http://purl.bioontology.org/ontology/LNC/LP56759-1 Logical Observation Identifier Names and Codes / 逻辑观察标识符名称和代码 CUI