EPIDERMOLYSIS BULLOSA DYSTROPHICA NEUROTROPHICA
General Information (adopted from Orphanet):
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Synonyms, Signs:
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EPIDERMOLYSIS BULLOSA PROGRESSIVA, RECESSIVE
EPIDERMOLYSIS BULLOSA WITH CONGENITAL DEAFNESS
EBR3
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Number of Symptoms
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9
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OrphanetNr:
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OMIM Id:
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226500
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ICD-10:
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UMLs:
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MeSH:
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MedDRA:
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Snomed:
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Prevalence, inheritance and age of onset:
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Prevalence:
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No data available.
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Inheritance:
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Autosomal recessive inheritance
[Omim]
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Age of onset:
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Disease classification (adopted from Orphanet):
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Parent Diseases:
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No data available.
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1
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(HPO:0008527)
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Congenital sensorineural hearing impairment |
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165 / 7739
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2
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(HPO:0002164)
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Nail dysplasia |
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82 / 7739
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3
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(HPO:0008404)
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Nail dystrophy |
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89 / 7739
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4
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(HPO:0007504)
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Diffuse slow skin atrophy |
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1 / 7739
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5
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(HPO:0000007)
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Autosomal recessive inheritance |
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2538 / 7739
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6
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(MedDRA:10030995)
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Oral mucosal blistering |
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1 / 7739
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7
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(OMIM)
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Finger ridge pattern loss |
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1 / 7739
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8
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(OMIM)
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Congenital, slowly progressive perceptive deafness |
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1 / 7739
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9
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(OMIM)
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Localized traumatic blistering |
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1 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |