syndromic disease CHARGE syndrome https://github.com/monarch-initiative/mondo/issues/6747 https://www.malacards.org/card/charge_syndrome This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'immune system disorder' (MONDO:0005046) ontology branch (https://orcid.org/0000-0001-8216-5084) NANDO:1200464 icd11.foundation:52086532 GARD:0000029 coloboma, heart malformation, choanal atresia, retardation of Growth and development, genital abnormalities, and Ear malformations (CHARGE) association Charge association--coloboma, heart anomaly, choanal atresia, retardation, genital and Ear anomalies MONDO:0008965 ICD9:759.89 MESH:D058747 coloboma, heart anomaly, choanal atresia, retardation, genital and ear anomalies DOID:0050834 CHARGE association MEDGEN:75567 Hall-Hittner syndrome NCIT:C75100 coloboma, heart defects, choanal atresia, retardation of Growth and development, genital abnormalities, and Ear anomalies association CHARGE syndrome UMLS:C0265354 MedDRA:10064063 Orphanet:138 coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome NANDO:2200972 SCTID:47535005 NORD:920 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). multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome obsolete syndrome or malformation associated with head and neck malformations congenital hypogonadotropic hypogonadism obsolete lens shape anomaly neurocristopathy cardiogenetic disease