loading...| Preferred Name | ocular albinism | |
| Synonyms |
ocular albinism XLOA ocular albinism (disease) |
|
| 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 |
|
| altLabel |
ocular albinism XLOA ocular albinism (disease) |
|
| 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. |
|
| has_exact_synonym |
ocular albinism XLOA ocular albinism (disease) |
|
| IAO_0000589 |
ocular albinism (disease) |
|
| label |
ocular albinism |
|
| prefixIRI |
MONDO:0017304 |
|
| prefLabel |
ocular albinism |
|
| textual 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. |
|
| subClassOf |