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
- Potocki-Lupski Syndrome
- Standard Disease Name
- potocki-lupski syndrome
- MeSH Tree
- No data
- ICD-10
- No data
Identifiers
- DO ID
- No data
- MeSH ID
- C538355
- OMIM ID
- 610883
- UMLS ID
- C1970482
- HPO ID
- No data
Description and Extensions
- Description
- NCI2016_02D:A rare genetic disorder characterized by hypotonia, failure to thrive, mental retardation, developmental disorders, congenital anomalies, and autism spectrum disorders. The majority of patients harbor a microduplication of chromosome 17p11.
Related
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