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congenital nystagmus

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

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 info

database cross reference
  • OMIMPS:310700 (MONDO:equivalentTo)
  • SCTID:64635004 (MONDO:equivalentTo)
  • ICD10CM:H55.01 (MONDO:equivalentTo)
  • DOID:9649 (MONDO:equivalentTo)
  • Orphanet:651 (MONDO:equivalentTo)
  • MESH:D020417 (MONDO:equivalentTo)
  • HP:0000639 (MONDO:otherHierarchy)
  • EFO:0007217 (MONDO:equivalentTo)
  • ICD9:379.51 (MONDO:i2s)
IAO 0000233

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

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://identifiers.org/snomedct/64635004, http://purl.obolibrary.org/obo/Orphanet_651, http://purl.obolibrary.org/obo/DOID_9649, http://purl.bioontology.org/ontology/ICD10CM/H55.01, https://omim.org/phenotypicSeries/PS310700, http://identifiers.org/mesh/D020417

has broad synonym

nystagmus

has exact synonym

motor congenital nystagmus, congenital pathologic nystagmus, nystagmus, congenital, congenital idiopathic nystagmus

id

MONDO:0005712