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Chondrodysplasia Blomstrand type
rareBlomstrand lethal chondrodysplasia (BLC) is a neonatal osteosclerotic dysplasia characterized by advanced endochondral bone maturation, very short limbs, dwarfism and prenatal lethality.
- Identifiers
- MONDO:0008970 OMIM:215045Orphanet:50945
- Causal genes
- PTH1R
- Also known as
- BLC · Blomstrand chondrodysplasia · Blomstrand lethal chondrodysplasia · Blomstrand lethal osteochondrodysplasia · Blomstrand osteochondrodysplasia
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