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chondrodysplasia Blomstrand type
Summary
- Synonym
-
- Blomstrand lethal chondrodysplasia
- 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.
- Super Class
- osteochondrodysplasia
External Links
- Disease Ontology
- DOID:0060387
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- OMIM
- GARD
- WikiPathways (from TogoID)
Related Genes
