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Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Abnormalities, Multiple > Deaf-Blind Disorders > CHARGE Syndrome
Eye Diseases > Vision Disorders > Blindness > Deaf-Blind Disorders > CHARGE Syndrome
... > Nervous System Diseases > Neurologic Manifestations > Sensation Disorders > Vision Disorders > Blindness > Deaf-Blind Disorders > CHARGE Syndrome
... > Pathological Conditions, Signs and Symptoms > Signs and Symptoms > Neurologic Manifestations > Sensation Disorders > Vision Disorders > Blindness > Deaf-Blind Disorders > CHARGE Syndrome
... > Otorhinolaryngologic Diseases > Ear Diseases > Hearing Disorders > Hearing Loss > Deafness > Deaf-Blind Disorders > CHARGE Syndrome
... > Nervous System Diseases > Neurologic Manifestations > Sensation Disorders > Hearing Disorders > Hearing Loss > Deafness > Deaf-Blind Disorders > CHARGE Syndrome
... > Pathological Conditions, Signs and Symptoms > Signs and Symptoms > Neurologic Manifestations > Sensation Disorders > Hearing Disorders > Hearing Loss > Deafness > Deaf-Blind Disorders > CHARGE Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Eye Abnormalities > Coloboma > CHARGE Syndrome
Eye Diseases > Eye Abnormalities > Coloboma > CHARGE Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Eye Diseases, Hereditary > Coloboma > CHARGE Syndrome
Eye Diseases > Eye Diseases, Hereditary > Coloboma > CHARGE Syndrome

Preferred term

CHARGE Syndrome  

Type

  • Topical Descriptor

Broader concept

Entry terms

  • CHARGE Association
  • CHARGE Association--Coloboma, Heart Anomaly, Choanal Atresia, Retardation, Genital and Ear Anomalies
  • CHARGE Associations
  • Coloboma, Heart Anomaly, Choanal Atresia, Retardation, Genital and Ear Anomalies
  • Hall Hittner Syndrome
  • Hall-Hittner Syndrome

Scope 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.

History note

  • 2011

In other languages

URI

http://www.yso.fi/onto/mesh/D058747

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