Human Disease Ontology 123

Last uploaded: September 28, 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 Updated outdated UMLS CUI.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 Updated outdated UMLS CUI.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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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/OMIM/MTHU007047 Online Mendelian Inheritance in Man LOOM
http://purl.bioontology.org/ontology/MESH/C580065 Medical Subject Headings LOOM