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Metadata
ID DOID:0050834
Name CHARGE syndrome
Definition A syndrome that is characterized by a pattern of congenital anomalies including choanal atresia and malformations of the heart, inner ear, and retina.
http://en.wikipedia.org/wiki/CHARGE_syndrome, http://ghr.nlm.nih.gov/condition/charge-syndrome, http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=138, https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/550/viewAbstract
Xrefs

GARD:29

MESH:D058747

NCI:C75100

OMIM:214800

ORDO:138

SNOMEDCT_US_2023_03_01:47535005

UMLS_CUI:C0265354

UMLS_CUI:C2936502

Subsets

DO_FlyBase_slim

DO_rare_slim

NCIthesaurus

Synonyms

CHARGE association [EXACT]

Parent Relationships

is_a syndrome

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