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Human Disease and Mouse Model Detail
Human Disease Metaphyseal Dysplasia without Hypotrichosis
OMIM ID: 250460
Synonyms Cartilage-Hair Hypoplasia Variant, Skeletal Manifestations Only; CHHV; Cartilage-Hair Hypoplasia-Like Skeletal Dysplasia without Hypotrichosis or Immunodeficiency
Genes and
mouse models 		Mutations in human and/or mouse homologs are associated with this disease

      *Gene is associated with the disease in this species
      Mouse Homologs Human Homologs Mouse Models Mouse : Human
Homology Class
     RMRP*  
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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Send questions and comments to User Support. 		last database update
05/08/2013
MGI 5.13 		The Jackson Laboratory