Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/235800 http://purl.bioontology.org/ontology/OMIM/235800
Preferred Name	HISTIDINEMIA
Synonyms	HISTIDINE AMMONIA-LYASE DEFICIENCY HIS DEFICIENCY HISTIDASE DEFICIENCY HAL DEFICIENCY
Type	http://www.w3.org/2002/07/owl#Class

altLabel	HISTIDINE AMMONIA-LYASE DEFICIENCY HIS DEFICIENCY HISTIDASE DEFICIENCY HAL DEFICIENCY
prefLabel	HISTIDINEMIA
Gene Symbol	HAL HSTD
Scope Statement	One compound heterozygous patient reported (last curated February 2015) [MISCELLANEOUS] High prevalence in Japan [MISCELLANEOUS] Caused by mutation in the histidine ammonia lyase gene (HAL, 609457.0001) [MOLECULAR BASIS] Generally considered to be a benign disorder [MISCELLANEOUS] Relationship of rare neuropsychiatric signs to histidinemia is unclear [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU012442 http://purl.bioontology.org/ontology/OMIM/MTHU012439 http://purl.bioontology.org/ontology/OMIM/MTHU012441 http://purl.bioontology.org/ontology/OMIM/MTHU025298 http://purl.bioontology.org/ontology/OMIM/MTHU067619 http://purl.bioontology.org/ontology/OMIM/MTHU012443 http://purl.bioontology.org/ontology/OMIM/MTHU012440 http://purl.bioontology.org/ontology/OMIM/MTHU000133 See more See less
tui	T047
Gene Locus	12q22-q23
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	235800
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000018 http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C0220992
OMIM Entry Type	3
OMIM MimType Value	pound

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