01
- Entity Type
- Diseases
- Relation Groups
- 1
- Relation Preview
- 8
Basic Information
Grouped by core information, identifiers, and descriptions.
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Core Information
- Disease Name
- Epidermolysis Bullosa
- Standard Disease Name
- epidermolysis bullosa
- MeSH Tree
- No data
- ICD-10
- No data
Identifiers
- DO ID
- No data
- MeSH ID
- C538049
- OMIM ID
- 221740
- UMLS ID
- C1857333
- HPO ID
- No data
Description and Extensions
- Description
- SNOMEDCT_US_2016_09_01:Rare syndrome with manifestation of sensorineural hearing loss and oligodontia/hypodontia. It has been described in two pairs of siblings and in one isolated case. Transmission appears to be autosomal recessive.