Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/617596 http://purl.bioontology.org/ontology/OMIM/617596
Preferred Name	MALEYLACETOACETATE ISOMERASE DEFICIENCY
Synonyms	BENIGN HYPERSUCCINYLACETONEMIA BHSA MAAI DEFICIENCY HYPERSUCCINYLACETONEMIA, MILD MAAID MHSA
Type	http://www.w3.org/2002/07/owl#Class

altLabel	BENIGN HYPERSUCCINYLACETONEMIA BHSA MAAI DEFICIENCY HYPERSUCCINYLACETONEMIA, MILD MAAID MHSA See more See less
prefLabel	MALEYLACETOACETATE ISOMERASE DEFICIENCY
Gene Symbol	MAAI GSTZ1 MAAID
Scope Statement	Caused by mutation in the glutathione S-transferase, zeta-1 gene (GSTZ1, 603758.0001) [MOLECULAR BASIS] Benign disorder [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU059368 http://purl.bioontology.org/ontology/OMIM/MTHU008931 http://purl.bioontology.org/ontology/OMIM/MTHU059369 http://purl.bioontology.org/ontology/OMIM/MTHU059367
tui	T047
Gene Locus	14q24.3
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	617596
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C1291607
OMIM Entry Type	3
OMIM MimType Value	pound

Delete	Subject	Author	Type	Created
No notes to display