Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
Preferred Name

DIHYDROLIPOAMIDE DEHYDROGENASE

Synonyms

DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY

ID

http://purl.bioontology.org/ontology/OMIM/238331

altLabel

DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY

DLD

E3

LIPOYL DEHYDROGENASE

DIAPHORASE

LIPOAMIDE DEHYDROGENASE

PYRUVATE DEHYDROGENASE COMPONENT E3

PHE3

DIHYDROLIPOYL DEHYDROGENASE

GCSL

LIPOAMIDE REDUCTASE

BRANCHED CHAIN ALPHA-KETO ACID DEHYDROGENASE COMPLEX, E3 COMPONENT

LADH

GLYCINE CLEAVAGE SYSTEM L PROTEIN

LAD

cui

C0268193

C1414063

Gene Locus

7q31-q32

Gene Symbol

DLD

DLDD

PHE3

LAD

Has allelic variant

http://purl.bioontology.org/ontology/OMIM/238331.0009

http://purl.bioontology.org/ontology/OMIM/238331.0007

http://purl.bioontology.org/ontology/OMIM/238331.0008

http://purl.bioontology.org/ontology/OMIM/238331.0003

http://purl.bioontology.org/ontology/OMIM/238331.0011

http://purl.bioontology.org/ontology/OMIM/238331.0004

http://purl.bioontology.org/ontology/OMIM/238331.0013

http://purl.bioontology.org/ontology/OMIM/238331.0012

http://purl.bioontology.org/ontology/OMIM/238331.0006

http://purl.bioontology.org/ontology/OMIM/238331.0010

http://purl.bioontology.org/ontology/OMIM/238331.0001

http://purl.bioontology.org/ontology/OMIM/238331.0002

MIMTYPEMEANING

Gene with known sequence

notation

238331

OMIM Entry Type

1

OMIM MimType Value

star

prefLabel

DIHYDROLIPOAMIDE DEHYDROGENASE

tui

T028

T047

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http://purl.bioontology.org/ontology/LNC/LA12490-1 Logical Observation Identifier Names and Codes CUI
http://purl.bioontology.org/ontology/ICD10CM/D74.0 International Classification of Diseases, Version 10 - Clinical Modification CUI
http://purl.bioontology.org/ontology/MESH/D008058 Medical Subject Headings LOOM
http://purl.bioontology.org/ontology/MESH/C537841 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/LNC/LP193286-4 Logical Observation Identifier Names and Codes CUI
http://purl.bioontology.org/ontology/LNC/LP15538-9 Logical Observation Identifier Names and Codes LOOM
http://purl.bioontology.org/ontology/LNC/MTHU010534 Logical Observation Identifier Names and Codes LOOM