Nanbyo Disease Ontology

Last uploaded: February 27, 2024

Preferred Name	Phenylalanine hydroxylase deficiency
Synonyms	PAH deficiency
ID	http://nanbyodata.jp/ontology/NANDO_2201075
altLabel	PAH deficiency
closeMatch	http://purl.obolibrary.org/obo/MONDO_0009861
identifier	NANDO:2201075
label	Phenylalanine hydroxylase deficiency
prefLabel	Phenylalanine hydroxylase deficiency
seeAlso	http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2844 http://nanbyodata.jp/ontology/NANDO_1200785 https://www.shouman.jp/disease/details/08_01_001/
source	https://www.shouman.jp/archives/doc/doc_08_01_001_01.pdf
告示番号	17
subClassOf	http://nanbyodata.jp/ontology/NANDO_2200467

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Mapping To	Ontology	Source
http://onstr.googlecode.com/svn/tags/currentRelease/2014-09-03/ONSTR.owl#ONSTR_0128089	ONSTR	LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU010141	OMIM	LOOM
http://purl.bioontology.org/ontology/RCD/X40Rb	RCD	LOOM