Search Ontology:
Human Disease

chondrodysplasia Blomstrand type

Term ID
DOID:0060387
Synonyms
  • 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. https://rarediseases.info.nih.gov/diseases/914/chondrodysplasia-blomstrand-type
References
Ontology
Human Disease   ( DOID:0060387 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
Citations
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