CHARGE syndrome
CHARGE syndrome is a multiple congenital anomaly syndrome characterized by the variable combination of multiple anomalies, mainly Coloboma; Choanal atresia/stenosis; Cranial nerve dysfunction; Characteristic ear anomalies (known as the major 4 C's).
MONDO:0015501
obsolete syndrome or malformation associated with head and neck malformations (obsolete MONDO:0015501)
excluded_subClassOf
MONDO:0020237
obsolete lens shape anomaly (obsolete MONDO:0020237)
excluded_subClassOf
MONDO:0002254
syndromic disease
is_a
MONDO:0015160
multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
is_a
MONDO:0015770
congenital hypogonadotropic hypogonadism
is_a
MONDO:0021635
neurocristopathy
is_a
MONDO:0100547
cardiogenetic disease
is_a
CHARGE association
exact
CHARGE syndrome
exact
Hall-Hittner syndrome
exact
coloboma, heart anomaly, choanal atresia, retardation, genital and ear anomalies
related
coloboma, heart defects, choanal atresia, retardation of Growth and development, genital abnormalities, and Ear anomalies association
exact
coloboma, heart malformation, choanal atresia, retardation of Growth and development, genital abnormalities, and Ear malformations (CHARGE) association
exact
coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome
exact