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