FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term chondrodysplasia Blomstrand type ID (Ontology) DOID:0060387 (Human Disease)
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.
Also Known As "Blomstrand lethal chondrodysplasia"
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 Genes
 chondrodysplasia Blomstrand type       1
 for disease ribbon | chondrodysplasia Blomstrand type       1
 model of | chondrodysplasia Blomstrand type       1
Spanning Tree (Parents/Children)
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bone development disease__
cartilage disease_________|
                          osteochondrodysplasia
                           |__chondrodysplasia Blomstrand type  1 rec.
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Is a osteochondrodysplasia
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Synonyms
  • "Blomstrand lethal chondrodysplasia" EXACT
Secondary IDs
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GARD:914
MESH:C537914
MIM:215045
NCI:C131420
ORDO:50945
UMLS_CUI:C1859148