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Standards Ontologies Notations
spastic quadriplegic cerebral palsy 3

Summary
Synonym
  • CPSQ3
Definition
A spastic quadriplegic cerebral palsy that has_material_basis_in homozygous mutation in the ADD3 gene on chromosome 10q24.
Super Class
autosomal recessive disease spastic quadriplegic cerebral palsy
Disease Ontology
DOID:0081361
Mondo Disease Ontology
OMIM
Related Genes
Displaying all 3 entries
Gene ID Gene Symbol Description Source
118 ADD1 adducin 1
119 ADD2 adducin 2
120 ADD3 adducin 3
Displaying 1 entry
Gene ID Gene Symbol Description Source
11518 Add1 adducin 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
24170 Add1 adducin 1
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GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: December 9, 2024