Human Disease Ontology / 人类疾病本体

Last uploaded: September 7, 2023
Preferred Name

episodic ataxia type 1

Definitions

An episodic ataxia that is characterized by periodic ataxia and frequent myokymic discharges, and has_material_basis_in autosomal dominant inheritance of mutation in the potassium channel gene KCNA1.

ID

http://purl.obolibrary.org/obo/DOID_0050989

created_by

lschriml

creation_date

2015-10-06T16:26:26Z

database_cross_reference

OMIM:160120

definition

An episodic ataxia that is characterized by periodic ataxia and frequent myokymic discharges, and has_material_basis_in autosomal dominant inheritance of mutation in the potassium channel gene KCNA1.

has_obo_namespace

disease_ontology

id

DOID:0050989

label

episodic ataxia type 1

notation

DOID:0050989

prefLabel

episodic ataxia type 1

subClassOf

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

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http://purl.obolibrary.org/obo/MONDO_0008047 Mondo Disease Ontology / Mondo疾病本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0008047 Experimental Factor Ontology / 实验性因素本体 LOOM
http://purl.bioontology.org/ontology/OMIM/160120 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 LOOM
http://purl.bioontology.org/ontology/MESH/C563278 Medical Subject Headings / 医学主题词表 LOOM
http://www.orpha.net/ORDO/Orphanet_37612 Orphanet Rare Disease Ontology / Orphanet罕见病本体 LOOM