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) [ MESH : D020417 ]
Term information
- Orphanet:651 (MONDO:equivalentTo)
- MESH:D020417 (MONDO:equivalentTo)
- EFO:0007217 (MONDO:equivalentTo)
- SCTID:64635004 (MONDO:equivalentTo)
- ICD9:379.51 (MONDO:i2s)
- ICD10CM:H55.01 (MONDO:equivalentTo)
- HP:0000639 (MONDO:otherHierarchy)
- OMIMPS:310700 (MONDO:equivalentTo)
- DOID:9649 (MONDO:equivalentTo)
- http://purl.obolibrary.org/obo/mondo/patterns/congenital.yaml
- 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)
- http://www.orpha.net/ORDO/Orphanet_651
- http://purl.obolibrary.org/obo/DOID_9649
- https://omim.org/phenotypicSeries/PS310700
- http://identifiers.org/mesh/D020417
- http://purl.bioontology.org/ontology/ICD10CM/H55.01
- http://identifiers.org/snomedct/64635004
- nystagmus
- nystagmus, congenital
- motor congenital nystagmus
- congenital pathologic nystagmus
- congenital idiopathic nystagmus
- MONDO:0005712
- http://purl.obolibrary.org/obo/mondo/patterns/OMIM_phenotypic_series.yaml
- https://github.com/monarch-initiative/mondo/issues/4069
Term relations
- pathologic nystagmus and bearer of some congenital