Retinitis pigmentosa 88

Preferred Label : Retinitis pigmentosa 88;

Symbol : RP88;

CISMeF acronym : RP88;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the RP1-like protein-1 gene (RP1L1, 608581.0003);

Prefixed ID : #618826;

Details

Origin ID

618826;

UMLS CUI

C5394208;

Genes related to phenotype
- Rp1-like protein 1 [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]
- Cystoid macular edema [HPO term]
- Exotropia [HPO term]
- Macular degeneration [HPO term]
- Neonatal onset [HPO term]
- Nyctalopia [HPO term]
- Optic disc pallor [HPO term]
- Reduced visual acuity [HPO term]
ORDO concept(s)
- Retinitis pigmentosa [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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