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Human Disease and Mouse Model Detail
Human Disease Metaphyseal Dysplasia without Hypotrichosis
OMIM ID: 250460
Human Phenotype Ontology associations
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

      *Disease is associated/modeled with this Gene or a homolog. More...
      Human Homologs Mouse Homologs Mouse Models Homology Source
     RMRP*   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