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.