Number of the records: 1
CHARGE syndróm
Record number d058747 Date 06.06.2025 Type M - MESH Topical term CHARGE syndróm Other term English (Pseudonym) CHARGE Association
English (Pseudonym) Coloboma, Heart Anomaly, Choanal Atresia, Retardation, Genital and Ear Anomalies
English (Pseudonym) Familial CHARGE Syndrome
Slovak (Pseudonym) asociácia CHARGE
Slovak (Pseudonym) asociácia CHARGE - kolobóm, defekty srdca, choanálna atrézia, oneskorenie vývinu, anomálie uší a genitálu
Slovak (Pseudonym) kolobóm, defekty srdca, choanálna atrézia, retardácia vývinu, postihnutieí uší a genitálu
Slovak (Pseudonym) syndróm CHARGE, familiárny
Slovak (Pseudonym) Hallov-Hittnerov syndróm
UDC C09.218.458.341.186.500.250C10.597.751.418.341.186.500.250C10.597.751.941.162.625.250C11.270.147.500C11.966.075.375.250C16.131.077.299.250C16.320.165C23.888.592.763.393.341.186.500.500C23.888.592.763.941.162.625.500 Note Rare disease characterized by COLOBOMA; CHOANAL ATRESIA; and abnormal SEMICIRCULAR CANALS. Mutations in CHD7 protein resulting in disturbed neural crest development are associated with CHARGE Syndrome. subject heading
Number of the records: 1