Oculocutaneous albinism, type VIII

Preferred Label : Oculocutaneous albinism, type VIII;

Symbol : OCA8;

Type : Phenotype, molecular basis known;

Prefixed ID : #619165;

Details

Origin ID

619165;

UMLS CUI

C5436929;

Currated CISMeF NLP mapping
- Oculocutaneous albinism type 8 [ORDO Disease]
Genes related to phenotype
- Dopachrome tautomerase [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Chorioretinal hypopigmentation [HPO term]
- Congenital onset [HPO term]
- Hypopigmentation of hair [HPO term]
- Hypopigmentation of the skin [HPO term]
- Hypoplasia of the fovea [HPO term]
- Iris transillumination defect [HPO term]
- Nystagmus [HPO term]
- Photophobia [HPO term]
- Reduced visual acuity [HPO term]
ORDO concept(s)
- Oculocutaneous albinism type 8 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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