Cone-rod dystrophy 8

Preferred Label : Cone-rod dystrophy 8;

Symbol : CORD8;

CISMeF acronym : CORD8;

Type : Phenotype or locus, molecular basis unknown;

Description : For a general phenotypic description and a discussion of genetic heterogeneity of cone-rod dystrophy (CORD), see 120970.;

Inheritance : Autosomal recessive;

Laboratory abnormalities : Electroretinogram is abnormal--rod responses are mildly abnormal and cone responses are markedly diminished;

Prefixed ID : %605549;

Details

Origin ID

605549;

UMLS CUI

C1854180;

Broader ORDO disease(s)
- Cone rod dystrophy [ORDO Disease]
Currated CISMeF NLP mapping
- Cone-Rod dystrophy 8 [MeSH concept]
- Cone-Rod dystrophy 8 [MeSH Supplementary Concept]
- cone-rod dystrophy 8 [DO Concept]
DO Cross reference
- cone-rod dystrophy 8 [DO Concept]
HPO term(s)
- Abnormality of retinal pigmentation [HPO term]
- Abnormality of the optic nerve [HPO term]
- Autosomal recessive inheritance [HPO term]
- Blindness [HPO term]
- Cone/cone-rod dystrophy [HPO term]
- Epiphora [HPO term]
- Macular degeneration [HPO term]
- Nyctalopia [HPO term]
- Pallor [HPO term]
- Peripheral visual field loss [HPO term]
- Photophobia [HPO term]
- Retinal arteriolar constriction [HPO term]
ORDO concept(s)
- Cone rod dystrophy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cone-Rod dystrophy 8 [MeSH Supplementary Concept]
- Cone-Rod dystrophy 8 [MeSH concept]
- cone-rod dystrophy 8 [DO Concept]
Validated automatic mappings to NTBT
- Cone rod dystrophy [ORDO Disease]

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