loading...| Preferred Name | ocular albinism | |
| Synonyms |
ocular albinism (disease) ocular albinism XLOA |
|
| Definitions |
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. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0017304 |
|
| closeMatch | ||
| database_cross_reference |
DOID:0050633 MedDRA:10065276 MEDGEN:38147 SCTID:26399002 MESH:D016117 UMLS:C0078917 Orphanet:284804 GARD:21124 HP:0001107 ICD9:270.2 NORD:1516 |
|
| 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/medgen/38147 http://identifiers.org/snomedct/26399002 http://purl.obolibrary.org/obo/DOID_0050633 |
|
| has_exact_synonym |
ocular albinism (disease) ocular albinism XLOA |
|
| IAO_0000233 | ||
| IAO_0000589 |
ocular albinism (disease) |
|
| id |
MONDO:0017304 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo#rare http://purl.obolibrary.org/obo/mondo#nord_rare http://purl.obolibrary.org/obo/mondo#otar http://purl.obolibrary.org/obo/mondo#gard_rare http://purl.obolibrary.org/obo/mondo#disease_grouping http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders |
|
| label |
ocular albinism |
|
| notation |
MONDO:0017304 |
|
| preferred label |
ocular albinism |
|
| prefLabel |
ocular albinism |
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| subClassOf |