Epidermolysis bullosa simplex 7, with nephropathy and deafness

Preferred Label : Epidermolysis bullosa simplex 7, with nephropathy and deafness;

Symbol : EBS7;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Nephropathy with pretibial epidermolysis bullosa and deafness;

Prefixed ID : #609057;

Details

Origin ID

609057;

UMLS CUI

C1836823;

Currated CISMeF NLP mapping
- Nephrotic syndrome, deafness, pretibial epidermolysis bullosa syndrome (disorder) [SNOMED CT concept]
- Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome [ORDO Disease]
- nephropathy with pretibial epidermolysis bullosa and deafness [MeSH concept]
- nephropathy with pretibial epidermolysis bullosa and deafness [MeSH Supplementary Concept]
Genes related to phenotype
- Cd151 antigen [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Lacrimal duct stenosis [HPO term]
- Nail dystrophy [HPO term]
- Nephritis [HPO term]
- Pretibial blistering [HPO term]
- Reduced beta/alpha synthesis ratio [HPO term]
- Sensorineural hearing impairment [HPO term]
- Stage 5 chronic kidney disease [HPO term]
ORDO concept(s)
- Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome [ORDO Disease]
- nephropathy with pretibial epidermolysis bullosa and deafness [MeSH Supplementary Concept]
- nephropathy with pretibial epidermolysis bullosa and deafness [MeSH concept]

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