Chondrodysplasia Blomstrand type Gene Set

Dataset ClinVar Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description Blomstrand lethal chondrodysplasia (BLC) is a neonatal osteosclerotic dysplasia (see this term) characterized by advanced endochondral bone maturation, very short limbs, dwarfism and prenatal lethality. (Orphanet Rare Disease Ontology, Orphanet_50945)
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1 genes associated with the Chondrodysplasia Blomstrand type phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Symbol Name
PTH1R parathyroid hormone 1 receptor