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loading...| Preferred Name |
Phenylalanine hydroxylase deficiency |
|
| Synonyms |
PAH欠損症 PAH deficiency |
|
| ID |
http://nanbyodata.jp/ontology/NANDO_1200785 |
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| altLabel |
PAH欠損症 PAH deficiency |
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| closeMatch | ||
| identifier |
NANDO:1200785 |
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| 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 |
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| prefLabel |
Phenylalanine hydroxylase deficiency |
|
| seeAlso |
http://syndromefinder.ncchd.go.jp/UR-DBMS/SyndromeDetail.php?winid=1&recid=2844 https://www.nanbyou.or.jp/entry/4748 https://www.mhlw.go.jp/file/06-Seisakujouhou-10900000-Kenkoukyoku/0000157282.docx |
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| source |
https://www.nanbyou.or.jp/wp-content/uploads/upload_files/File/240-201704-kojin.pdf |
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| 告示番号 |
240 |
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| subClassOf |
Create mapping
| Delete | 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 |