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chondrodysplasia Blomstrand type

Disease Summary
Associated Targets (1)
Tclin

1


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Mondo Description Blomstrand lethal chondrodysplasia (BLC) is a neonatal osteosclerotic dysplasia characterized by advanced endochondral bone maturation, very short limbs, dwarfism and prenatal lethality.
Uniprot Description Severe skeletal dysplasia.
Disease Ontology Description 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.
Mondo Term and Equivalent IDs
MONDO:0008970:  chondrodysplasia Blomstrand type
GARD:0000914: 
MESH:C537914: 
NCIT:C131420: 
Orphanet:50945: 
UMLS:C1859148: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)