Cone-rod dystrophy 13

Preferred Label : Cone-rod dystrophy 13;

Symbol : CORD13;

CISMeF acronym : CORD13;

Type : Phenotype, molecular basis known;

Prefixed ID : #608194;

Details

Origin ID

608194;

UMLS CUI

C2750720;

Broader ORDO disease(s)
- Cone rod dystrophy [ORDO Disease]
Currated CISMeF NLP mapping
- Cone-Rod dystrophy 13 [MeSH concept]
- Cone-Rod dystrophy 13 [MeSH Supplementary Concept]
- cone-rod dystrophy 13 [DO Concept]
DO Cross reference
- cone-rod dystrophy 13 [DO Concept]
Genes related to phenotype
- Retinitis pigmentosa gtpase regulator-interacting protein [OMIM gene]
HPO term(s)
- Abnormal electroretinogram [HPO term]
- Abnormality of fundus pigmentation [HPO term]
- Adult onset [HPO term]
- Attenuation of retinal blood vessels [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bone spicule pigmentation of the retina [HPO term]
- Childhood onset [HPO term]
- Color vision defect [HPO term]
- Cone/cone-rod dystrophy [HPO term]
- Congenital onset [HPO term]
- Constriction of peripheral visual field [HPO term]
- Cystoid macular edema [HPO term]
- Hypermetropia [HPO term]
- Infantile onset [HPO term]
- Juvenile onset [HPO term]
- Macular atrophy [HPO term]
- Macular degeneration [HPO term]
- Mildly reduced visual acuity [HPO term]
- Moderately reduced visual acuity [HPO term]
- Myopia [HPO term]
- Nyctalopia [HPO term]
- Nystagmus [HPO term]
- Optic disc pallor [HPO term]
- Photophobia [HPO term]
- Posterior subcapsular cataract [HPO term]
- Progressive visual loss [HPO term]
- Reduced visual acuity [HPO term]
- Severely reduced visual acuity [HPO term]
- Undetectable light- and dark-adapted electroretinogram [HPO term]
- Very low visual acuity [HPO term]
- Visual impairment [HPO term]
ORDO concept(s)
- Cone rod dystrophy [ORDO Disease]
See also inter- (CISMeF)
- RPGR interacting protein 1 [ORDO Gene]
- RPGR interacting protein 1 [HGNC gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cone-Rod dystrophy 13 [MeSH Supplementary Concept]
- Cone-Rod dystrophy 13 [MeSH concept]
- cone-rod dystrophy 13 [DO Concept]
Validated automatic mappings to NTBT
- Cone rod dystrophy [ORDO Disease]

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