Systematized Nomenclature of Medicine, International Version

Last uploaded: August 28, 2024

Preferred Name	GTP cyclohydrolase I deficiency
Synonyms	Hyperphenylalaninemia with neopterin deficiency
ID	http://purl.bioontology.org/ontology/SNMI/D6-A1162
altLabel	Hyperphenylalaninemia with neopterin deficiency
Associated with	http://purl.bioontology.org/ontology/SNMI/M-27000 http://purl.bioontology.org/ontology/SNMI/F-6B410
cui	C0268467
notation	D6-A1162
prefLabel	GTP cyclohydrolase I deficiency
SMX	(M-27000) (F-6B410)
tui	T047
subClassOf	http://purl.bioontology.org/ontology/SNMI/D6-A1000

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/RCD/X40Rh	RCD	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/23447005	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/OMIM/600225	OMIM	CUI
http://purl.bioontology.org/ontology/MESH/C562656	MESH	CUI
http://purl.bioontology.org/ontology/SCTSPA/23447005	SCTSPA	CUI
http://purl.bioontology.org/ontology/OMIM/233910	OMIM	CUI
http://purl.obolibrary.org/obo/MONDO_0100184	MONDO	LOOM
http://www.orpha.net/ORDO/Orphanet_2102	ORDO	LOOM
http://purl.obolibrary.org/obo/MONDO_0100184	CCONT	LOOM
http://purl.obolibrary.org/obo/MONDO_0100184	HSPO	LOOM
http://purl.obolibrary.org/obo/MONDO_0100184	EFO	LOOM
http://purl.obolibrary.org/obo/MONDO_0100184	DOVES	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C141442	NCIT	LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/23447005	SNOMEDCT	LOOM
http://purl.obolibrary.org/obo/NCIT_C141442	BERO	LOOM
http://www.limics.org/hrdo/rdfns#pat_id_787	HRDO	LOOM