Nanbyo Disease Ontology

Last uploaded: February 27, 2024

Preferred Name	Phenylalanine hydroxylase deficiency
Synonyms	PAH欠損症 PAH deficiency
ID	http://nanbyodata.jp/ontology/NANDO_2201075
altLabel	PAH欠損症 PAH deficiency
closeMatch	http://purl.obolibrary.org/obo/MONDO_0009861
identifier	NANDO:2201075
label	フェニルアラニン水酸化酵素欠損症ふぇにるあらにんすいさんかこうそけっそんしょう 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