Retinitis pigmentosa 90

Preferred Label : Retinitis pigmentosa 90;

Symbol : RP90;

CISMeF acronym : RP90;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the isocitrate dehydrogenase 3, alpha subunit gene (IDH3A, 601149.0002);

Prefixed ID : #619007;

Details

Origin ID

619007;

UMLS CUI

C5436588;

DO Cross reference
- retinitis pigmentosa 90 [DO Concept]
Genes related to phenotype
- Isocitrate dehydrogenase, nad(+), 3, catalytic subunit alpha [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]
- Childhood onset [HPO term]
- Constriction of peripheral visual field [HPO term]
- Cystoid macular edema [HPO term]
- Hyperautofluorescent retinal lesion [HPO term]
- Infantile onset [HPO term]
- Juvenile onset [HPO term]
- Nyctalopia [HPO term]
- Reduced visual acuity [HPO term]
- Retinal pigment epithelial atrophy [HPO term]
- Strabismus [HPO term]
ORDO concept(s)
- Retinitis pigmentosa [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients