Mondo Disease Ontology / Mondo疾病本体

Last uploaded: August 7, 2023
Preferred Name

hyperekplexia

Definitions

A neurologic disorder classically characterised by pronounced startle responses to tactile or acoustic stimuli and hypertonia

ID

http://purl.obolibrary.org/obo/MONDO_0017658

database_cross_reference

Orphanet:306773

MESH:D000071017

definition

A neurologic disorder classically characterised by pronounced startle responses to tactile or acoustic stimuli and hypertonia

exactMatch

http://purl.obolibrary.org/obo/Orphanet_306773

http://identifiers.org/mesh/D000071017

has characteristic

http://purl.obolibrary.org/obo/MONDO_0021136

id

MONDO:0017658

in_subset

http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders

http://purl.obolibrary.org/obo/mondo#disease_grouping

label

hyperekplexia

notation

MONDO:0017658

prefLabel

hyperekplexia

treeView

http://purl.obolibrary.org/obo/MONDO_0005395

subClassOf

http://purl.obolibrary.org/obo/MONDO_0005395

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http://purl.obolibrary.org/obo/DOID_0060695 Human Disease Ontology / 人类疾病本体 LOOM
http://www.orpha.net/ORDO/Orphanet_306773 Orphanet Rare Disease Ontology / Orphanet罕见病本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0017658 Experimental Factor Ontology / 实验性因素本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0017658 Experimental Factor Ontology / 实验性因素本体 SAME_URI
http://purl.bioontology.org/ontology/MESH/D000071017 Medical Subject Headings / 医学主题词表 LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU044673 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 LOOM