01
AP3D1
No data
- Entity Type
- Diseases
- Relation Groups
- 1
- Relation Preview
- 8
Basic Information
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Core Information
- Disease Name
- Albinism, Ocular
- Standard Disease Name
- albinism, ocular
- MeSH Tree
- No data
- ICD-10
- E70.31|E70.319
Identifiers
- DO ID
- No data
- MeSH ID
- D016117
- OMIM ID
- MTHU037236
- UMLS ID
- C0078917
- HPO ID
- No data
Description and Extensions
- Description
- MSH2017_2016_08_12: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.|HPO2016_07_04:An abnormal reduction in the amount of pigmentation (reduced or absent) of the iris and retina. [HPO:probinson]
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