loading...| Preferred Name | congenital nystagmus | |
| Synonyms |
nystagmus motor congenital nystagmus Nystagmus, Congenital congenital nystagmus congenital idiopathic nystagmus congenital pathologic nystagmus nystagmus, congenital |
|
| Definitions |
A pathologic nystagmus, present at birth, characterized by involuntary, rhythmic eye movements; oscillations are usually horizontal in direction. 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://www.ebi.ac.uk/efo/EFO_0007217 |
|
| database_cross_reference |
SCTID:64635004 ICD9:379.51 ICD10CM:H55.01 MESH:D020417 MEDGEN:195995 MONDO:0005712 OMIMPS:310700 MedDRA:10010562 MeSH:D020417 Orphanet:651 UMLS:C0700501 DOID:9649 HP:0000639 |
|
| definition |
A pathologic nystagmus, present at birth, characterized by involuntary, rhythmic eye movements; oscillations are usually horizontal in direction. 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 |
https://omim.org/phenotypicSeries/PS310700 http://purl.bioontology.org/ontology/ICD10CM/H55.01 http://linkedlifedata.com/resource/umls/id/C0700501 http://identifiers.org/snomedct/64635004 http://identifiers.org/medgen/195995 |
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| has_broad_synonym |
nystagmus |
|
| has_exact_synonym |
motor congenital nystagmus Nystagmus, Congenital congenital nystagmus congenital idiopathic nystagmus congenital pathologic nystagmus nystagmus, congenital |
|
| IAO_0000233 | ||
| id |
EFO:0007217 |
|
| in_subset | ||
| label |
congenital nystagmus |
|
| notation |
EFO:0007217 |
|
| preferred label |
congenital nystagmus |
|
| prefLabel |
congenital nystagmus |
|
| term editor |
Sirarat Sarntivijai |
|
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0100545 |