ZFIN Human Disease: hydrolethalus syndrome

OBO ID: DOID:0050779

Term Name:	hydrolethalus syndrome		Search Ontology:
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:	GARD:6683 ICD10CM:Q87.8 MESH:C536079 OMIM:PS236680 ORDO:2189
Ontology:	Human Disease ( DOID:0050779 )

Relationships

is a type of:	autosomal recessive disease syndrome autosomal recessive disease syndrome Show first 5 Terms
has subtype:	hydrolethalus syndrome 1 hydrolethalus syndrome 2 hydrolethalus syndrome 1 hydrolethalus syndrome 2 Show first 5 Terms

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Alliance (1)

GENES INVOLVED No data available

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS (1)