Search Ontology:
Human Disease

hydrolethalus syndrome

Term ID
DOID:0050779
Synonyms
  • Salonen-Herva-Norio syndrome
Definition
A syndrome 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. (3)
References
Ontology
Human Disease   ( DOID:0050779 )
Relationships
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has subtype
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
Citations
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