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GENE - TERM ANNOTATION REPORT

RGD ID: 1566122
Species: Rattus norvegicus
RGD Object: Gene
Symbol: B9d2
Name: B9 domain containing 2
Acc ID: DOID:0050777
Term: Joubert syndrome
Definition: A ciliopathy that is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones. (DO)
Definition Source(s): http://en.wikipedia.org/wiki/Joubert_syndrome "DO" "DO", MIM:213300 "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)
B9d2 ISOB9D2 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Joubert syndrome | ClinVar Annotator: match by term: Joubert syndrome and related disordersPMID:21763481 PMID:26092869 PMID:28492532 PMID:28771248 PMID:33234550
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