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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 ]

This is just here as a test because I lose it

Term information

database cross reference
  • 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)
conformsTo
  • http://purl.obolibrary.org/obo/mondo/patterns/congenital.yaml
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://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
has broad synonym
  • nystagmus
has exact synonym
  • nystagmus, congenital
  • motor congenital nystagmus
  • congenital pathologic nystagmus
  • congenital idiopathic nystagmus
id
  • MONDO:0005712
should conform to
  • http://purl.obolibrary.org/obo/mondo/patterns/OMIM_phenotypic_series.yaml
term tracker item
  • https://github.com/monarch-initiative/mondo/issues/4069