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complex lethal osteochondrodysplasia

Disease Summary
Associated Targets (1)


Explore Associated Targets
Uniprot Description An autosomal recessive, lethal syndrome characterized by severe hypomineralization of the entire skeleton, severe osteopenia, microcephaly, multiple intra-uterine fractures, and multiple congenital developmental anomalies affecting the brain, lungs, and kidneys.
Mondo Term and Equivalent IDs
MONDO:0014821:  complex lethal osteochondrodysplasia
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found