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hydrolethalus syndrome 1
Disease Summary
Associated Targets (2)
Tbio
2
Mondo Description Any hydrolethalus syndrome in which the cause of the disease is a mutation in the HYLS1 gene.
Uniprot Description A lethal syndrome characterized by polydactyly, central nervous system malformation, and hydrocephalus. The polydactyly is postaxial in the hands and preaxial in the feet. A highly characteristic hallux duplex is seen in almost no other situation. In half of the cases, a large atrioventricular communis defect of the heart is found. The pregnancy is characterized by hydramnios, which is often massive, and by preterm delivery.
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:0111355
MESH:C565504
OMIM:236680
UMLS:C1856016
MONDO:0009365
High level summary of knowledge for a disease, including descriptions and datasource references.