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Human Disease and Mouse Model Detail
Human Disease Hajdu-Cheney Syndrome; HJCYS
OMIM ID: 102500
Human Phenotype Ontology associations
Synonyms Acroosteolysis with Osteoporosis and Changes in Skull and Mandible; Arthrodentoosteodysplasia; Cheney Syndrome; Serpentine Fibula-Polycystic Kidney Syndrome; SFPKS
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
     NOTCH2* Notch2   HomoloGene and HGNC

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 6.05
The Jackson Laboratory