Mondo Disease Ontology / Mondo疾病本体

Last uploaded: August 7, 2023
Preferred Name

congenital nystagmus

Synonyms

nystagmus, congenital

congenital idiopathic nystagmus

congenital pathologic nystagmus

motor congenital nystagmus

nystagmus

Definitions

Nystagmus present at birth or caused by lesions sustained in utero or at the time of birth. It is usually pendular, and is associated with albinism and conditions characterized by early loss of central vision. Inheritance patterns may be X-linked, autosomal dominant, or recessive. (Adams et al., Principles of Neurology, 6th ed, p275)

ID

http://purl.obolibrary.org/obo/MONDO_0005712

database_cross_reference

EFO:0007217

ICD10CM:H55.01

HP:0000639

SCTID:64635004

Orphanet:651

OMIMPS:310700

ICD9:379.51

DOID:9649

MESH:D020417

definition

Nystagmus present at birth or caused by lesions sustained in utero or at the time of birth. It is usually pendular, and is associated with albinism and conditions characterized by early loss of central vision. Inheritance patterns may be X-linked, autosomal dominant, or recessive. (Adams et al., Principles of Neurology, 6th ed, p275)

exactMatch

http://purl.obolibrary.org/obo/DOID_9649

https://omim.org/phenotypicSeries/PS310700

http://identifiers.org/snomedct/64635004

http://purl.bioontology.org/ontology/ICD10CM/H55.01

http://identifiers.org/mesh/D020417

has_broad_synonym

nystagmus

has_exact_synonym

nystagmus, congenital

congenital idiopathic nystagmus

congenital pathologic nystagmus

motor congenital nystagmus

IAO_0000233

https://github.com/monarch-initiative/mondo/issues/4069

id

MONDO:0005712

label

congenital nystagmus

notation

MONDO:0005712

prefLabel

congenital nystagmus

treeView

http://purl.obolibrary.org/obo/MONDO_0004843

http://purl.obolibrary.org/obo/MONDO_0003847

http://purl.obolibrary.org/obo/MONDO_0002320

subClassOf

http://purl.obolibrary.org/obo/MONDO_0004843

http://purl.obolibrary.org/obo/MONDO_0003847

http://purl.obolibrary.org/obo/MONDO_0002320

Delete Subject Author Type Created
No notes to display
Create New Mapping

Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_9649 BioAssay Ontology / 生物活性分析本体 LOOM
http://purl.obolibrary.org/obo/DOID_9649 Human Disease Ontology / 人类疾病本体 LOOM
http://www.ebi.ac.uk/efo/EFO_0007217 Experimental Factor Ontology / 实验性因素本体 LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU053438 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 LOOM
http://purl.obolibrary.org/obo/HP_0006934 Human Phenotype Ontology / 人类表型本体 LOOM
http://purl.bioontology.org/ontology/ICD10CM/H55.01 International Classification of Diseases, Version 10 - Clinical Modification / 国际疾病分类,第10版-临床修改 LOOM