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Metadata
ID	DOID:0060387
Name	chondrodysplasia Blomstrand type
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. https://rarediseases.info.nih.gov/diseases/914/chondrodysplasia-blomstrand-type
Xrefs	GARD:914 MESH:C537914 NCI:C131420 OMIM:215045 ORDO:50945 UMLS_CUI:C1859148
Subsets	DO_rare_slim NCIthesaurus
Synonyms	Blomstrand lethal chondrodysplasia [EXACT]
Parent Relationships	is_a osteochondrodysplasia