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CHARGE Syndrome

^ http://purl.obolibrary.org/obo/NCIT_C75100


A rare autosomal dominant syndrome usually caused by mutations in the CHD7 gene. The term CHARGE is an acronym for the following unusual congenital abnormalities that are associated with this syndrome: coloboma of the eye, heart defects, choanal atresia, growth and developmental retardation, genital, and ear abnormalities. [ NCI ]

Synonyms: CHARGE Syndrome, Coloboma, Heart Malformation, Choanal Atresia, Retardation of Growth and Development, Genital Abnormalities, and Ear Malformations (CHARGE) Association, Coloboma, Heart Defects, Choanal Atresia, Retardation of Growth and Development, Genital Abnormalities, and Ear Anomalies Association

Term info

Subsets

NCIT_C90259, NCIT_C99147, NCIT_C118467

ALT DEFINITION

An autosomal dominant syndrome caused by mutation(s) in the CHD7 gene, encoding chromodomain-helicase-DNA-binding protein 7, and characterized by coloboma, cardiac anomalies, choanal atresia, growth and developmental delay, hypogonadotropic hypogonadism, and ear anomalies.

Has NICHD Parent

http://purl.obolibrary.org/obo/NCIT_C3101

Legacy Concept Name

CHARGE_Syndrome

NICHD Hierarchy Term

CHARGE Syndrome

Preferred Name

CHARGE Syndrome

Semantic Type

Disease or Syndrome

UMLS CUI

C0265354

code

C75100