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Disease Ontology Browser
hydrolethalus syndrome (DOID:0050779)
Alliance: disease page
Synonyms: Salonen-Herva-Norio syndrome
Alt IDs: ICD10CM:Q87.8, MESH:C536079, OMIM:PS236680, ORDO:2189
Definition: A syndrome characterized by multiple 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.

Disease References using Mouse Models (1)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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11/12/2024
MGI 6.24 		The Jackson Laboratory