DISEASES

Disease-gene associations mined from literature

Human genes for chondrodysplasia Blomstrand type

Chondrodysplasia Blomstrand type [DOID:0060387]

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.

Synonyms:  chondrodysplasia Blomstrand type,  DOID:0060387,  chondrodysplasia Blomstrand types,  Blomstrand lethal chondrodysplasia,  Blomstrand lethal chondrodysplasias