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hydrolethalus syndrome

Disease Summary
Associated Targets (118)
Tbio

81

Tchem

24

Tdark

7

Tclin

6


Explore Associated Targets
Mondo Description Hydrolethalus (HLS) is a severe fetal malformation syndrome characterized by craniofacial dysmorphic features, central nervous system, cardiac, respiratory tract and limb abnormalities.
Disease Ontology Description An autosomal recessive disease characterized by mulitple fetal developmental defects including polydactyly and central nervous system malformations that results from a single amino acid mutation of D211G of the HYLS1 gene which plays a central role in cilia formation.
Mondo Term and Equivalent IDs
MONDO:0006037:  hydrolethalus syndrome
EFO:1000033: 
GARD:0006683: 
MESH:C536079: 
OMIMPS:236680: 
Orphanet:2189: 
SCTID:721232000: 
UMLS:C2931104: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)