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hydrolethalus syndrome 2
Disease Summary
Associated Targets (1)
Tbio
1
Mondo Description Any hydrolethalus syndrome in which the cause of the disease is a mutation in the KIF7 gene.
Uniprot Description An embryonic lethal disorder characterized by hydrocephaly or anencephaly, postaxial polydactyly of the upper limbs, and pre- or postaxial polydactyly of the lower limbs. Duplication of the hallux is a common finding.
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 Mondo Disease Ontology.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:0111356
OMIM:614120
UMLS:C3279899
MONDO:0013585
High level summary of knowledge for a disease, including descriptions and datasource references.