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lethal osteosclerotic bone dysplasia

Disease Summary
Associated Targets (1)
Tbio

1


Explore Associated Targets
Mondo Description Lethal osteosclerotic bone dysplasia is defined by generalized osteosclerosis with periosteal bone formation, characteristic facial dysmorphism, brain abnormalities including intracerebral calcifications, and neonatal lethal course.
Uniprot Description Autosomal recessive osteosclerotic bone dysplasia with neonatal lethal outcome. Clinical features include generalized osteosclerosis, craniofacial dysplasia and microcephaly.
Mondo Term and Equivalent IDs
MONDO:0009821:  lethal osteosclerotic bone dysplasia
GARD:0000282: 
MESH:C535282: 
Orphanet:1832: 
UMLS:C1850106: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found