OBO ID: DOID:0060387
Term Name: chondrodysplasia Blomstrand type Search Ontology:
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 )
OTHER chondrodysplasia Blomstrand type PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
PTH1R Chondrodysplasia, Blomstrand type 215045
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None