Corneal dystrophy and perceptive deafness

Preferred Label : Corneal dystrophy and perceptive deafness;

Symbol : CDPD;

CISMeF acronym : CDPD; CDPD1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Corneal dystrophy and sensorineural deafness; Harboyan syndrome; CDPD1;

Inheritance : Autosomal recessive;

Prefixed ID : #217400;

Details

Origin ID

217400;

UMLS CUI

C1857572;

Automatic exact mappings (from CISMeF team)
- Corneal dystrophy - perceptive deafness [ICD-11 More detail]
- corneal dystrophy-perceptive deafness syndrome [DO Concept]
Currated CISMeF NLP mapping
- Congenital hereditary endothelial dystrophy and perceptive deafness syndrome (disorder) [SNOMED CT concept]
- Corneal dystrophy and perceptive deafness [MeSH concept]
- Corneal dystrophy-perceptive deafness syndrome [ORDO Disease]
- corneal dystrophy and perceptive deafness [MeSH Supplementary Concept]
DO Cross reference
- corneal dystrophy-perceptive deafness syndrome [DO Concept]
Genes related to phenotype
- Solute carrier family 4 (sodium borate cotransporter), member 11 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Corneal dystrophy [HPO term]
- Corneal opacity [HPO term]
- Opacification of the corneal stroma [HPO term]
- Pediatric onset [HPO term]
- Reduced visual acuity [HPO term]
- Sensorineural hearing impairment [HPO term]
- Young adult onset [HPO term]
ORDO concept(s)
- Corneal dystrophy-perceptive deafness syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital hereditary endothelial dystrophy and perceptive deafness syndrome (disorder) [SNOMED CT concept]
- Corneal dystrophy and perceptive deafness [MeSH concept]
- Corneal dystrophy-perceptive deafness syndrome [ORDO Disease]
- corneal dystrophy and perceptive deafness [MeSH Supplementary Concept]
- corneal dystrophy-perceptive deafness syndrome [DO Concept]

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