Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/204750 http://purl.bioontology.org/ontology/OMIM/204750
Preferred Name	ALPHA-AMINOADIPIC AND ALPHA-KETOADIPIC ACIDURIA
Synonyms	2-KETOADIPIC ACIDURIA AMOXAD AAKAD 2-AMINOADIPIC 2-OXOADIPIC ACIDURIA
Type	http://www.w3.org/2002/07/owl#Class

altLabel	2-KETOADIPIC ACIDURIA AMOXAD AAKAD 2-AMINOADIPIC 2-OXOADIPIC ACIDURIA
prefLabel	ALPHA-AMINOADIPIC AND ALPHA-KETOADIPIC ACIDURIA
Gene Symbol	AAKAD KIAA1630 DHTKD1 CMT2Q
Scope Statement	Variable phenotype [MISCELLANEOUS] Caused by mutation in the dehydrogenase E1 and transketolase domains-containing protein 1 gene (DHTKD1, 614984.0001) [MOLECULAR BASIS] Based on report of 2 patients with DHTKD1 mutation (last curated November 2014) [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU000691 http://purl.bioontology.org/ontology/OMIM/MTHU036340 http://purl.bioontology.org/ontology/OMIM/MTHU000197 http://purl.bioontology.org/ontology/OMIM/MTHU001946 http://purl.bioontology.org/ontology/OMIM/MTHU022819 http://purl.bioontology.org/ontology/OMIM/MTHU003860 http://purl.bioontology.org/ontology/OMIM/MTHU045308 http://purl.bioontology.org/ontology/OMIM/MTHU045309 http://purl.bioontology.org/ontology/OMIM/MTHU001819 See more See less
tui	T047
Gene Locus	10p14
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	204750
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C1859817
Moved from	245130
OMIM Entry Type	3
OMIM MimType Value	pound

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