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complex lethal osteochondrodysplasia

Disease Summary
Associated Targets (1)
Tbio

1


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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
Orphanet:457378: 
UMLS:C4225162: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found