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Human Disease and Mouse Model Detail
Human Disease CHARGE Syndrome
OMIM ID: 214800
Human Phenotype Ontology associations
Synonyms Charge Association--Coloboma, Heart Anomaly, Choanal Atresia, Retardation, Genital and Ear Anomalies; Hall-Hittner Syndrome; HHS
View all models View ALL (10) mouse models for this human disease.
Genes and
mouse models
Mutations in human and/or mouse homologs are associated with this disease

      *Disease is associated/modeled with this Gene or a homolog. More...
      Human Homologs Mouse Homologs Mouse Models Homology Source
     CHD7* Chd7* View 8 models HomoloGene and HGNC
     CHD2 Chd2* View 1 model HomoloGene and HGNC
TP53 Trp53* View 1 model HomoloGene and HGNC
     SEMA3E* Sema3e   HomoloGene and HGNC
References Disease References using Mouse Models (7)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
MGI 6.07
The Jackson Laboratory