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ocular albinism

^ http://purl.obolibrary.org/obo/MONDO_0017304

Albinism affecting the eye in which pigment of the hair and skin is normal or only slightly diluted. The classic type is X-linked (Nettleship-Falls), but an autosomal recessive form also exists. Ocular abnormalities may include reduced pigmentation of the iris, nystagmus, photophobia, strabismus, and decreased visual acuity. [ MESH:D016117 ]

Term info

database cross reference
  • MESH:D016117 (MONDO:equivalentTo)
  • MedDRA:10065276 (Orphanet:284804/e)
  • ICD9:270.2 (MONDO:relatedTo)
  • DOID:0050633 (MONDO:equivalentTo)
  • Orphanet:284804 (MONDO:equivalentTo)
  • SCTID:26399002 (MONDO:equivalentTo)
  • HP:0001107 (MONDO:otherHierarchy)
Subsets

disease_grouping, ordo_group_of_disorders

abbreviation
XLOA [ Orphanet:54 ]

IAO 0000589

ocular albinism (disease)

closeMatch

http://identifiers.org/meddra/10065276

definition

Albinism affecting the eye in which pigment of the hair and skin is normal or only slightly diluted. The classic type is X-linked (Nettleship-Falls), but an autosomal recessive form also exists. Ocular abnormalities may include reduced pigmentation of the iris, nystagmus, photophobia, strabismus, and decreased visual acuity.

exactMatch

http://identifiers.org/mesh/D016117, http://identifiers.org/snomedct/26399002, http://purl.obolibrary.org/obo/DOID_0050633, http://purl.obolibrary.org/obo/Orphanet_284804

has exact synonym

ocular albinism, XLOA, ocular albinism (disease)

id

MONDO:0017304