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Last uploaded: January 31, 2024

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Preferred Name	CHARGE Syndrome
Synonyms	CHARGE Syndromes
Definitions	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.
ID	http://purl.bioontology.org/ontology/MESH/D058747
altLabel	CHARGE Syndromes Familial CHARGE Syndromes Familial CHARGE Syndrome CHARGE Syndrome, Familial Hall Hittner Syndrome Coloboma, Heart Anomaly, Choanal Atresia, Retardation, Genital and Ear Anomalies CHARGE Syndromes, Familial CHARGE Associations CHARGE Association CHARGE Association--Coloboma, Heart Anomaly, Choanal Atresia, Retardation, Genital and Ear Anomalies Hall-Hittner Syndrome
AQL	BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI
cui	C2936502 C0265354
DC	1
definition	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.
DX	20110101
HN	2011
Inverse of AQ	http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000178 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000469 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000209 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000652 http://purl.bioontology.org/ontology/MESH/Q000523 http://purl.bioontology.org/ontology/MESH/Q000401
Machine permutation	2011
MDA	20100625
MMR	20220413
MN	C11.966.075.375.250 C10.597.751.941.162.625.250 C10.597.751.418.341.186.500.250 C23.888.592.763.941.162.625.500 C23.888.592.763.393.341.186.500.500 C16.320.165 C09.218.458.341.186.500.250 C11.270.147.500 C16.131.077.299.250
notation	D058747
prefLabel	CHARGE Syndrome
TERMUI	T767275 T767277 T767278 T001117009 T767276 T827386
TH	OMIM (2013) NLM (2023) GHR (2014) NLM (2011) ORD (2010)
tui	T047
subClassOf	http://purl.bioontology.org/ontology/MESH/D054062 http://purl.bioontology.org/ontology/MESH/D003103 http://purl.bioontology.org/ontology/MESH/D030342

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/MSHFRE/D058747	MSHFRE	CUI
http://purl.bioontology.org/ontology/OMIM/214800	OMIM	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/47535005	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/RCD/X00kb	RCD	CUI
http://purl.bioontology.org/ontology/MEDDRA/10064063	MEDDRA	CUI
http://purl.bioontology.org/ontology/SNMI/D4-01403	SNMI	CUI
http://purl.bioontology.org/ontology/MDRFRE/10064063	MDRFRE	CUI
http://purl.bioontology.org/ontology/NDFRT/N0000182178	NDFRT	CUI
http://purl.bioontology.org/ontology/MSHFRE/D058747	MSHFRE	CUI
http://purl.bioontology.org/ontology/OMIM/608892	OMIM	CUI
http://purl.bioontology.org/ontology/SCTSPA/47535005	SCTSPA	CUI
http://purl.bioontology.org/ontology/MDRGER/10064063	MDRGER	CUI
http://purl.obolibrary.org/obo/MONDO_0008965	EFO	LOOM
http://purl.obolibrary.org/obo/DOID_0050834	DOID	LOOM
http://purl.obolibrary.org/obo/MONDO_0008965	MONDO	LOOM
http://purl.bioontology.org/ontology/OMIM/214800	OMIM	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D058747	RH-MESH	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.077.239	RH-MESH	LOOM
http://purl.obolibrary.org/obo/OMIM_214800	CCO	LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/47535005	SNOMEDCT	LOOM
http://identifiers.org/omim/214800	REXO	LOOM
http://identifiers.org/omim/214800	GEXO	LOOM
http://identifiers.org/omim/214800	RETO	LOOM
http://www.gamuts.net/entity#CHARGE_syndrome	GAMUTS	LOOM
http://purl.bioontology.org/ontology/MEDDRA/10064063	MEDDRA	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#CHARGE_Syndrome	CSEO	LOOM
http://www.orpha.net/ORDO/Orphanet_138	ORDO	LOOM
http://purl.obolibrary.org/obo/OMIT_0027362	OMIT	LOOM
http://www.phoc.org.cn/pmo/class/PMO_00040099	PMAPP-PMO	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C75100	NCIT	LOOM
http://purl.obolibrary.org/obo/NCIT_C75100	BERO	LOOM
http://purl.obolibrary.org/obo/HIO_0000025	HIO	LOOM
http://purl.obolibrary.org/obo/DOID_0050834	DTO	LOOM
http://purl.obolibrary.org/obo/DOID_0050834	HHEAR	LOOM
http://purl.obolibrary.org/obo/DOID_0050834	GSSO	LOOM
http://purl.obolibrary.org/obo/DOID_0050834	NIFSTD	LOOM
http://purl.obolibrary.org/obo/DOID_0050834	FNS-H	LOOM
http://www.limics.org/hrdo/rdfns#pat_id_110	HRDO	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.165	RH-MESH	LOOM
http://purl.jp/bio/4/id/200906042132612839	IOBC	LOOM
http://purl.obolibrary.org/obo/MONDO_0008965	DOVES	LOOM
http://purl.obolibrary.org/obo/MONDO_0008965	KTAO	LOOM