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GENE - TERM ANNOTATION REPORT

RGD ID: 8737604
Species: Chinchilla lanigera
RGD Object: Gene
Symbol: Ca5b
Name: carbonic anhydrase 5B
Acc ID: DOID:0080139
Term: multiple congenital anomalies-hypotonia-seizures syndrome 2
Definition: A multiple congenital anomalies-hypotonia-seizures syndrome that is characterized by X-linked recessive inheritance of dysmorphic features, neonatal hypotonia, myoclonic seizures and variable abnormalities involving the central nervous, cardiac, and urinary systems that has_material_basis_in mutation in the PIGA gene on chromosome Xp22. (DO)
Definition Source(s): https://www.ncbi.nlm.nih.gov/pubmed/10441586 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/22305531 "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)
Ca5b ISOCA5B (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Multiple congenital anomalies-hypotonia-seizures syndrome 2PMID:24706016 PMID:26545172 PMID:28492532
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