BioAssay Ontology / 生物活性分析本体

Last uploaded: September 7, 2023
Preferred Name

Leigh disease

Synonyms

Infantile necrotizing encephalomyelopathy

Definitions

Xref MGI. OMIM mapping confirmed by DO. [SN]. A mitochondrial metabolism disease characterized by progressive loss of mental and movement abilities. Symptoms usually begin between ages of three months and two years and include loss of appetite, vomiting, irritability and seizure activity.

ID

http://purl.obolibrary.org/obo/DOID_3652

comment

Xref MGI. OMIM mapping confirmed by DO. [SN].

database_cross_reference

SNOMEDCT_US_2020_03_01:29570005

ICD10CM:G31.82

ORDO:506

MESH:D007888

OMIM:256000

UMLS_CUI:C0023264

NCI:C84814

GARD:6877

has exact synonym

Infantile necrotizing encephalomyelopathy

Leigh syndrome

juvenile subacute necrotizing encephalomyelopathy

has_related_synonym

subacute necrotizing encephalomyelopathy

id

DOID:3652

in_subset

http://purl.oboInOwllibrary.org/oboInOwl/doid#DO_FlyBase_slim

http://purl.oboInOwllibrary.org/oboInOwl/doid#DO_rare_slim

http://purl.oboInOwllibrary.org/oboInOwl/doid#NCIthesaurus

label

Leigh disease

notation

DOID:3652

prefLabel

Leigh disease

textual definition

A mitochondrial metabolism disease characterized by progressive loss of mental and movement abilities. Symptoms usually begin between ages of three months and two years and include loss of appetite, vomiting, irritability and seizure activity.

引自

http://purl.obolibrary.org/obo/doid.owl

有_obo_命名空间

disease_ontology

subClassOf

http://purl.obolibrary.org/obo/DOID_700

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http://purl.bioontology.org/ontology/MESH/D007888 Medical Subject Headings / 医学主题词表 LOOM
http://purl.obolibrary.org/obo/DOID_3652 Human Disease Ontology / 人类疾病本体 LOOM
http://purl.obolibrary.org/obo/DOID_3652 Human Disease Ontology / 人类疾病本体 SAME_URI
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84814 National Cancer Institute Thesaurus / 美国国家癌症研究所词典 LOOM