Number of the records: 1  

CHARGE syndróm

  1. Record numberd058747
    Date06.06.2025
    TypeM - MESH
    Topical termCHARGE syndróm
    Other termEnglish (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
    UDCC09.218.458.341.186.500.250C10.597.751.418.341.186.500.250C10.597.751.941.162.625.250C11.270.147.500C11.966.075.375.250C16.131.077.299.250C16.320.165C23.888.592.763.393.341.186.500.500C23.888.592.763.941.162.625.500
    NoteRare 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.
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Number of the records: 1  

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