About: Hartnup disease

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An Entity of Type : owl:Class, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

OMIM mapping confirmed by DO. [SN].

Attributes	Values
type	Class
subClassOf	amino acid metabolic disorder nodeID://b50947055
label	Hartnup disease
comment	OMIM mapping confirmed by DO. [SN].
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:1060
database_cross_reference	GARD:6569 ICD10CM:E72.02 MESH:D006250 NCI:C84748 OMIM:234500 SNOMEDCT_US_2021_09_01:80902009 UMLS_CUI:C0018609
has_exact_synonym	Neutral 1 amino acid transport defect (en) deficiency of tryptophan oxygenase (en) neutral amino acid transport defect (en)
has_obo_namespace	disease_ontology
in_subset	NCIthesaurus
http://purl.obolib...g/obo/IAO_0000115	An amino acid metabolic disorder that is caused by abnormalities of the renal tubules and is characterized especially by aminoaciduria involving only monocarboxylic monoamines, a dry red scaly rash, and episodic muscular incoordination due to the effects of the disease on the cerebellum.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50947056

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