Metadata | |
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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 | |
Subsets |
DO_rare_slim NCIthesaurus |
Synonyms |
Blomstrand lethal chondrodysplasia [EXACT] |
Parent Relationships |