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GENE - TERM ANNOTATION REPORT

RGD ID: 1313816
Species: Homo sapiens
RGD Object: Gene
Symbol: TAF1C
Name: TATA-box binding protein associated factor, RNA polymerase I subunit C
Acc ID: DOID:13042
Term: persistent fetal circulation syndrome
Definition: A syndrome of persistent PULMONARY HYPERTENSION in the newborn infant (INFANT, NEWBORN) without demonstrable HEART DISEASES. This neonatal condition can be caused by severe pulmonary vasoconstriction (reactive type), hypertrophy of pulmonary arterial muscle (hypertrophic type), or abnormally developed pulmonary arterioles (hypoplastic type). The newborn patient exhibits CYANOSIS and ACIDOSIS due to the persistence of fetal circulatory pattern of right-to-left shunting of blood through a patent ductus arteriosus (DUCTUS ARTERIOSUS, PATENT) and at times a patent foramen ovale (FORAMEN OVALE, PATENT).
Definition Source(s): MESH:D010547
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)
TAF1C IAGP (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Congenital alveolar capillary dysplasia 
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