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General Information
ZIRC
OBO ID: DOID:0050834
Term Name: CHARGE syndrome Search Ontology:
Synonyms:
  • CHARGE association
Definition: A syndrome that is acterized by a pattern of congenital anomalies including choanal atresia and malformations of the heart, inner ear, and retina. (4)
References:
  • GARD:29
  • MESH:D058747
  • NCI:C75100
  • OMIM:214800
  • ORDO:138
  • SNOMEDCT_US_2018_03_01:47535005
  • UMLS_CUI:C0265354
  • UMLS_CUI:C2936502
Ontology: Human Disease   (DOID:0050834)
Relationships
is a type of:
OTHER CHARGE syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
CHD7 CHARGE syndrome 214800
SEMA3E ?CHARGE syndrome 214800
PHENOTYPE No data available

CITATIONS (7)