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complex lethal osteochondrodysplasia
Disease Summary
Associated Targets (1)
Tbio
1
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.
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Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
OMIM:616897
Orphanet:457378
UMLS:C4225162
MONDO:0014821
High level summary of knowledge for a disease, including descriptions and datasource references.