Cone-rod dystrophy 11

Preferred Label : Cone-rod dystrophy 11;

Symbol : CORD11;

CISMeF acronym : CORD11;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the retina and anterior neural fold homeobox-2 gene (RAX2, 610362.0002);

Prefixed ID : #610381;

Details

Origin ID

610381;

UMLS CUI

C1835865;

Broader ORDO disease(s)
- Cone rod dystrophy [ORDO Disease]
Currated CISMeF NLP mapping
- Cone-Rod dystrophy 11 [MeSH concept]
- Cone-Rod dystrophy 11 [MeSH Supplementary Concept]
- cone-rod dystrophy 11 [DO Concept]
DO Cross reference
- cone-rod dystrophy 11 [DO Concept]
Genes related to phenotype
- Retina and anterior neural fold homeobox 2 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Bull's eye maculopathy [HPO term]
- Cone/cone-rod dystrophy [HPO term]
- Macular atrophy [HPO term]
- Macular degeneration [HPO term]
- Pallor [HPO term]
- Photophobia [HPO term]
- Slow decrease in visual acuity [HPO term]
ORDO concept(s)
- Cone rod dystrophy [ORDO Disease]
See also inter- (CISMeF)
- retina and anterior neural fold homeobox 2 [ORDO Gene]
- retina and anterior neural fold homeobox 2 [HGNC gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cone-Rod dystrophy 11 [MeSH Supplementary Concept]
- Cone-Rod dystrophy 11 [MeSH concept]
- cone-rod dystrophy 11 [DO Concept]
Validated automatic mappings to NTBT
- Cone rod dystrophy [ORDO Disease]

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