Human Disease Ontology / 人类疾病本体

Last uploaded: September 7, 2023
Preferred Name

episodic ataxia

Synonyms

Isaacs syndrome

Definitions

A hereditary ataxia characterized by sporadic bouts of ataxia with or without continuous muscle movement. Xref MGI. OMIM mapping confirmed by DO. [SN]. Updated outdated UMLS CUI.

ID

http://purl.obolibrary.org/obo/DOID_963

comment

Xref MGI. OMIM mapping confirmed by DO. [SN]. Updated outdated UMLS CUI.

database_cross_reference

UMLS_CUI:C1720189

MESH:C580065

GARD:9851

SNOMEDCT_US_2022_09_01:421455009

ORDO:211062

definition

A hereditary ataxia characterized by sporadic bouts of ataxia with or without continuous muscle movement.

has exact synonym

Isaacs syndrome

has_obo_namespace

disease_ontology

id

DOID:963

in_subset

http://purl.obolibrary.org/obo/doid#DO_rare_slim

label

episodic ataxia

notation

DOID:963

prefLabel

episodic ataxia

subClassOf

http://purl.obolibrary.org/obo/DOID_0050951

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http://purl.bioontology.org/ontology/OMIM/MTHU007047 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 LOOM
http://purl.obolibrary.org/obo/DOID_963 BioAssay Ontology / 生物活性分析本体 LOOM
http://purl.obolibrary.org/obo/DOID_963 BioAssay Ontology / 生物活性分析本体 SAME_URI
http://purl.obolibrary.org/obo/HP_0002131 Human Phenotype Ontology / 人类表型本体 LOOM
http://purl.bioontology.org/ontology/MESH/C580065 Medical Subject Headings / 医学主题词表 LOOM