01
SLC35A3
No data
Diseases
Autism Spectrum Disorder-Epilepsy-Arthrogryposis Syndrome
autism spectrum disorder-epilepsy-arthrogryposis syndrome
- Entity Type
- Diseases
- Relation Groups
- 1
- Relation Preview
- 1
Basic Information
Grouped by core information, identifiers, and descriptions.
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Core Information
- Disease Name
- Autism Spectrum Disorder-Epilepsy-Arthrogryposis Syndrome
- Standard Disease Name
- autism spectrum disorder-epilepsy-arthrogryposis syndrome
- MeSH Tree
- No data
- ICD-10
- Q87.8
Identifiers
- DO ID
- No data
- MeSH ID
- No data
- OMIM ID
- 615553
- UMLS ID
- No data
- HPO ID
- No data
Description and Extensions
- Description
- SLC35A3-CDG is a form of congenital disorders of N-linked glycosylation characterized by distal arthrogryposis (mild flexion contractures of the fingers, deviation of the distal phalanges, swan-neck d
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Related Targets
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