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GENE - TERM ANNOTATION REPORT

RGD ID: 8838365
Species: Chinchilla lanigera
RGD Object: Gene
Symbol: Gabbr2
Name: gamma-aminobutyric acid type B receptor subunit 2
Acc ID: DOID:1206
Term: Rett syndrome
Definition: A pervasive developmental disease that is characterized by normal early growth and development followed by a slowing of development, loss of purposeful use of the hands, distinctive hand movements, slowed brain and head growth, problems with walking, seizures, and intellectual disability. (DO)
Definition Source(s): http://www.nichd.nih.gov/health/topics/rett_syndrome.cfm "DO" "DO", http://www.ninds.nih.gov/disorders/rett/detail_rett.htm "DO" "DO", https://medlineplus.gov/ency/article/001536.htm "DO" "DO"
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
Gabbr2 ISOGABBR2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Rett syndromePMID:25741868 PMID:26740508 PMID:27541642 PMID:28492532 PMID:28856709 PMID:29100083
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