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Disease Ontology Browser
chondrodysplasia Blomstrand type (DOID:0060387)
Alliance: disease page
Synonyms: Blomstrand lethal chondrodysplasia
Alt IDs: OMIM:215045, MESH:C537914, NCI:C131420, ORDO:50945, UMLS_CUI:C1859148
Definition: An osteochondrodysplasia that is characterized by rapid endochondral bone maturation, short limbs, dwarfism and prenatal lethality, has_material_basis_in autosomal recessive inheritance of mutation in the PTH1R gene.

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory