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Preferred Name

disorder
ID

http://www.orpha.net/ORDO/Orphanet_557493
definition

A clinical entity characterised by a set of homogeneous phenotypic abnormalities and evolution allowing a definitive clinical diagnosis.
label

disorder
prefixIRI

ORDO:Orphanet_557493
prefLabel

disorder
subClassOf

http://www.orpha.net/ORDO/Orphanet_C001
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http://purl.obolibrary.org/obo/OGMS_0000045 Ontology of Adverse Events / 不良事件本体 LOOM
http://purl.obolibrary.org/obo/OGMS_0000045 Vaccine Ontology / 疫苗本体 LOOM
http://purl.obolibrary.org/obo/OGMS_0000045 Ontology for General Medical Science / 通用医学科学本体 LOOM
http://purl.obolibrary.org/obo/OGMS_0000045 Ontology for Biobanking / 生物样本库本体 LOOM
http://purl.obolibrary.org/obo/OGMS_0000045 Infectious Disease Ontology / 传染性疾病本体 LOOM
http://purl.obolibrary.org/obo/OGMS_0000045 Informed Consent Ontology / 知情同意本体 LOOM
http://purl.obolibrary.org/obo/OGMS_0000045 GenEpiO / 基因组流行病学本体 LOOM