Jump to:
loading...| Preferred Name | Albinism, Ocular [Disease/Finding] | |
| Synonyms |
Ocular Albinism Albinism, Ocular |
|
| ID |
http://purl.bioontology.org/ontology/NDFRT/N0000003371 |
|
| altLabel |
Ocular Albinism Albinism, Ocular |
|
| cui |
C0078917 |
|
| MESH 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. |
|
| MESH DUI |
D016117 |
|
| MeSH name |
Albinism, Ocular |
|
| MESH UI |
M0024622 |
|
| NDFRT kind |
DISEASE_KIND |
|
| notation |
N0000003371 |
|
| NUI |
N0000003371 |
|
| prefLabel |
Albinism, Ocular [Disease/Finding] |
|
| SNOMED CID |
26399002 |
|
| tui |
T019 |
|
| subClassOf |
Create mapping