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DOID:0050779 - hydrolethalus syndrome
Disease Ontology 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.
Synonyms: Salonen-Herva-Norio syndrome,
Xenbase Genes
:
kif7,
hyls1
| MONDO:0006037 - hydrolethalus syndrome |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal recessive disease (is_a),
syndrome (is_a)