01
DUP17P13.3
No data
Diseases
17P13.3 Microduplication Syndrome
17p13.3 microduplication syndrome
- Entity Type
- Diseases
- Relation Groups
- 1
- Relation Preview
- 3
Basic Information
Grouped by core information, identifiers, and descriptions.
Quick relations do not expand inferred candidates by default. Load path-derived ingredients or herbs when needed.
Core Information
- Disease Name
- 17P13.3 Microduplication Syndrome
- Standard Disease Name
- 17p13.3 microduplication syndrome
- MeSH Tree
- No data
- ICD-10
- Q92.3
Identifiers
- DO ID
- No data
- MeSH ID
- C567705
- OMIM ID
- 613215
- UMLS ID
- C2750748
- HPO ID
- No data
Description and Extensions
- Description
- 17p13.3 microduplication syndrome is characterized by variable psychomotor delay and dysmorphic features.
Related
Related Entities
Direct relations and traceable candidates grouped by relation type.
Related Targets
target disease3 Targets
02
PAFAH1B1
platelet activating factor acetylhydrolase 1b regulatory subunit 1
platelet activating factor acetylhydrolase 1b regulatory subunit 1
03
YWHAE
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon