Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024

Preferred Name	Phenylalanine hydroxylase deficiency
Synonyms
ID	http://purl.bioontology.org/ontology/OMIM/MTHU010141
cui	C0751434
Manifestation of	http://purl.bioontology.org/ontology/OMIM/261600
notation	MTHU010141
prefLabel	Phenylalanine hydroxylase deficiency
tui	T047
subClassOf	http://purl.bioontology.org/ontology/OMIM/MTHU000176

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/MEDDRA/10034875	MEDDRA	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/7573000	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/MSHFRE/D010661	MSHFRE	CUI
http://purl.bioontology.org/ontology/ICD10CM/E70.0	ICD10CM	CUI
http://purl.bioontology.org/ontology/ICD10/E70.0	ICD10	CUI
http://purl.bioontology.org/ontology/RCD/Xa0lA	RCD	CUI
http://purl.bioontology.org/ontology/SCTSPA/7573000	SCTSPA	CUI
http://purl.bioontology.org/ontology/MDRFRE/10034875	MDRFRE	CUI
http://purl.bioontology.org/ontology/LNC/LA12520-5	LOINC	CUI
http://purl.bioontology.org/ontology/CSP/1849-1234	CRISP	CUI
http://purl.bioontology.org/ontology/RCD/X40Rb	RCD	CUI
http://purl.bioontology.org/ontology/SNMI/D6-A1120	SNMI	CUI
http://purl.bioontology.org/ontology/RCD/C301.	RCD	CUI
http://purl.bioontology.org/ontology/MESH/D010661	MESH	CUI
http://purl.bioontology.org/ontology/MDRGER/10034875	MDRGER	CUI
http://onstr.googlecode.com/svn/tags/currentRelease/2014-09-03/ONSTR.owl#ONSTR_0128089	ONSTR	LOOM
http://nanbyodata.jp/ontology/NANDO_1200785	NANDO	LOOM
http://purl.bioontology.org/ontology/RCD/X40Rb	RCD	LOOM
http://nanbyodata.jp/ontology/NANDO_2201075	NANDO	LOOM