Term Name: chondrodysplasia Blomstrand type
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 )

Relationships
is a type of: osteochondrodysplasia