Human Disease Ontology

Last uploaded: November 27, 2024
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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 Updated outdated UMLS CUI.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 Updated outdated UMLS CUI.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

MESH:C580065

UMLS_CUI:C1720189

SNOMEDCT_US_2023_03_01:421455009

ORDO:211062

GARD:9851
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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Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_963 DTO SAME_URI
http://purl.obolibrary.org/obo/DOID_963 BAO SAME_URI
http://purl.obolibrary.org/obo/DOID_963 EPIO SAME_URI
http://purl.obolibrary.org/obo/DOID_963 HHEAR SAME_URI
http://purl.obolibrary.org/obo/DOID_963 DDSS SAME_URI
http://purl.obolibrary.org/obo/DOID_963 NIFSTD SAME_URI
http://purl.obolibrary.org/obo/DOID_963 MIDO SAME_URI
http://purl.obolibrary.org/obo/DOID_963 FNS-H SAME_URI
http://www.ustb.edu.cn/thesauri/tocr/v1/data#C571348523971244043 ACVD_ONTOLOGY LOOM
http://purl.bioontology.org/ontology/MESH/C580065 MESH LOOM
http://www.phoc.org.cn/pmo/class/PMO_00010713 PMAPP-PMO LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/421455009 SNOMEDCT LOOM
http://www.semanticweb.org/ontologies/STO.owl#OWLClass_b8676e6f_5b46_4996_99cf_43d83779f7e3 STO-DRAFT LOOM
http://www.semanticweb.org/ontologies/STO.owl#OWLClass_b8676e6f_5b46_4996_99cf_43d83779f7e3 CVAO LOOM
http://purl.bioontology.org/ontology/MEDDRA/10067447 MEDDRA LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C580065 RH-MESH LOOM
http://purl.obolibrary.org/obo/DOID_963 DTO LOOM
http://purl.obolibrary.org/obo/DOID_963 BAO LOOM
http://purl.obolibrary.org/obo/DOID_963 EPIO LOOM
http://purl.obolibrary.org/obo/DOID_963 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_963 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_963 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_963 MIDO LOOM
http://purl.obolibrary.org/obo/DOID_963 FNS-H LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU007047 OMIM LOOM
http://purl.obolibrary.org/obo/HP_0002131 HP LOOM
http://purl.obolibrary.org/obo/HP_0002131 UPHENO LOOM