Nanbyo Disease Ontology

Last uploaded: February 27, 2024
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Preferred Name

Adrenoleukodystrophy
Synonyms
ID

http://nanbyodata.jp/ontology/NANDO_2200576
description

副腎白質ジストロフィー(adrenoleukodystrophy; ALD)は中枢神経の白質と副腎の障害を特徴とするX連鎖性の遺伝性疾患で、３〜10歳で発症して大脳半球の広範な進行性脱髄と副腎機能不全を特徴とする小児大脳型や20歳以降に痙性歩行で発症するadrenomyeloneuropathy (AMN)、成人で性格変化、知能低下、精神症状で発症する成人大脳型に、副腎不全症状のみのタイプなど多彩な臨床型を有している。病因はXq28に存在するABCD1遺伝子異常による。しかしその病態についてはほとんど解明されておらず、多彩な臨床型も遺伝子変異とは相関が無く、脱髄の発症機序や極長鎖脂肪酸蓄積の病態への関与も未解明である。また大脳型の唯一の治療法は発症早期の造血細胞移植である。
closeMatch

http://purl.obolibrary.org/obo/MONDO_0018544
identifier

NANDO:2200576
label

ふくじんはくしつじすとろふぃー

Adrenoleukodystrophy

副腎白質ジストロフィー
prefLabel

Adrenoleukodystrophy
seeAlso

http://nanbyodata.jp/ontology/NANDO_1200165

https://www.shouman.jp/disease/details/08_07_104/
source

https://www.shouman.jp/archives/doc/doc_08_07_104_01.pdf
告示番号

81
subClassOf

http://nanbyodata.jp/ontology/NANDO_2100166
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http://purl.obolibrary.org/obo/DOID_10588 DOID LOOM
http://purl.obolibrary.org/obo/MONDO_0018544 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0018544 EFO LOOM
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http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.228.140.695.625.250 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.565.189.680.100 RH-MESH LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Adrenoleukodystrophy CSEO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.648.189.680.100 RH-MESH LOOM
http://purl.bioontology.org/ontology/MEDDRA/10051260 MEDDRA LOOM
http://identifiers.org/omim/300100 REXO LOOM
http://identifiers.org/omim/300100 GEXO LOOM
http://identifiers.org/omim/300100 RETO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.648.189.362.250 RH-MESH LOOM
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0162309 MEDLINEPLUS LOOM
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http://purl.obolibrary.org/obo/MONDO_0018544 DOVES LOOM
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http://purl.bioontology.org/ontology/OMIM/300100 OMIM LOOM
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http://www.phoc.org.cn/pmo/class/PMO_00038496 PMAPP-PMO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C61252 NCIT LOOM
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http://purl.bioontology.org/ontology/PDQ/CDR0000753684 PDQ LOOM
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http://purl.bioontology.org/ontology/SNOMEDCT/65389002 SNOMEDCT LOOM
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http://uri.neuinfo.org/nif/nifstd/birnlex_12527 NIFDYS LOOM
http://uri.neuinfo.org/nif/nifstd/birnlex_12527 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_10588 CLO LOOM
http://purl.obolibrary.org/obo/DOID_10588 DTO LOOM
http://purl.obolibrary.org/obo/DOID_10588 BAO LOOM
http://purl.obolibrary.org/obo/DOID_10588 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_10588 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_10588 FNS-H LOOM
http://purl.obolibrary.org/obo/OMIT_0001755 OMIT LOOM
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http://www.gamuts.net/entity#adrenoleukodystrophy GAMUTS LOOM
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http://purl.bioontology.org/ontology/CSP/4001-0003 CRISP LOOM
http://www.semanticweb.org/ontologies/2012/5/Ontology1338526551855.owl#Adrenoleukodystrophy RPO LOOM
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http://purl.bioontology.org/ontology/SNMI/DB-70660 SNMI LOOM
http://www.owl-ontologies.com/unnamed.owl#RID15064 DERMLEX LOOM