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Human Disease and Mouse Model Detail
Human Disease SHORT Syndrome
OMIM ID: 269880
Human Phenotype Ontology associations
Synonyms Lipodystrophy, Partial, with Rieger Anomaly and Short Stature; Short Stature, Hyperextensibility, Hernia, Ocular Depression, Rieger Anomaly, and Teething Delay
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
     PIK3R1* Pik3r1   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 6.07
The Jackson Laboratory