Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/234500 http://purl.bioontology.org/ontology/OMIM/234500
Preferred Name	HARTNUP DISORDER
Synonyms	HARTNUP DISEASE HND
Type	http://www.w3.org/2002/07/owl#Class

altLabel	HARTNUP DISEASE HND
prefLabel	HARTNUP DISORDER
Gene Symbol	HND SLC6A19
Scope Statement	Caused by mutation in the system B(0) neutral amino acid transporter-1 gene (SLC6A19, 608893.0001) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU012529 http://purl.bioontology.org/ontology/OMIM/MTHU067616 http://purl.bioontology.org/ontology/OMIM/MTHU012530 http://purl.bioontology.org/ontology/OMIM/MTHU012534 http://purl.bioontology.org/ontology/OMIM/MTHU012528 http://purl.bioontology.org/ontology/OMIM/MTHU002910 http://purl.bioontology.org/ontology/OMIM/MTHU002543 http://purl.bioontology.org/ontology/OMIM/MTHU012533 http://purl.bioontology.org/ontology/OMIM/MTHU000145 http://purl.bioontology.org/ontology/OMIM/MTHU037499 http://purl.bioontology.org/ontology/OMIM/MTHU000242 See more See less
tui	T047
Gene Locus	5p15.33
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	234500
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C0018609
OMIM Entry Type	3
OMIM MimType Value	pound

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