01
ALX4
No data
- Entity Type
- Diseases
- Relation Groups
- 1
- Relation Preview
- 4
Basic Information
Grouped by core information, identifiers, and descriptions.
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Core Information
- Disease Name
- Potocki-Shaffer Syndrome
- Standard Disease Name
- potocki-shaffer syndrome
- MeSH Tree
- No data
- ICD-10
- Q93.5
Identifiers
- DO ID
- No data
- MeSH ID
- C538356
- OMIM ID
- 601224
- UMLS ID
- C1832588
- HPO ID
- No data
Description and Extensions
- Description
- Potocki-Shaffer syndrome is characterized by multiple exostoses, parietal foramina, enlargement of the anterior fontanelle and occasionally intellectual deficit and mild cranio-facial anomalies. To da