OBO ID: DOID:0050779 |
Term Name: | hydrolethalus syndrome | Search Ontology: | |
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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) | ||
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Ontology: | Human Disease ( DOID:0050779 ) |
OTHER hydrolethalus syndrome PAGES
GENES INVOLVED
No data available
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS (1)
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