Retinitis pigmentosa 86

Preferred Label : Retinitis pigmentosa 86;

Symbol : RP86;

CISMeF acronym : RP86;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the KIAA1549 gene (KIAA1549, 613344.0001);

Prefixed ID : #618613;

Details

Origin ID

618613;

UMLS CUI

C5231428;

Genes related to phenotype
- Kiaa1549 gene [OMIM gene]
HPO term(s)
- Attenuation of retinal blood vessels [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bone spicule pigmentation of the retina [HPO term]
- Cortical cataract [HPO term]
- Cystoid macular edema [HPO term]
- Hyperautofluorescent retinal lesion [HPO term]
- Nummular pigmentation of the fundus [HPO term]
- Nyctalopia [HPO term]
- Optic disc pallor [HPO term]
- Progressive visual loss [HPO term]
- Retinal pigment epithelial atrophy [HPO term]
ORDO concept(s)
- Retinitis pigmentosa [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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