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DOID:0060387 - chondrodysplasia Blomstrand type
Disease Ontology 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.
Synonyms: Blomstrand lethal chondrodysplasia
Xenbase Genes
:
pth1r
| MONDO:0008970 - chondrodysplasia Blomstrand type |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
osteochondrodysplasia (is_a)