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Metadata
DOID DOID:0050779
Name hydrolethalus syndrome
Definition 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.
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1017280/?page=1, http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2751977/#B33, https://www.ncbi.nlm.nih.gov/pubmed/15843405
Xrefs

GARD:6683

ICD10CM:Q87.8

MESH:C536079

OMIM:236680

OMIM:614120

ORDO:2189

Subsets

DO_FlyBase_slim

DO_rare_slim

Synonyms

Salonen-Herva-Norio syndrome [EXACT]

Relationships

is_a autosomal recessive disease

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