OBO ID: DOID:0060387 |
Term Name: | chondrodysplasia Blomstrand type | Search Ontology: | |
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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 | ||
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Ontology: | Human Disease ( DOID:0060387 ) |
OTHER chondrodysplasia Blomstrand type PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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