Term Name: | chondrodysplasia Blomstrand type |
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Synonyms: | Blomstrand lethal chondrodysplasia |
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. |
Ontology: | Human Disease [DOID:0060387] ( DOID:0060387 ) |