ZFIN Human Disease: PHARC syndrome

OBO ID: DOID:0080181

Term Name:	PHARC syndrome		Search Ontology:
Synonyms:	polyneyropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract
Definition:	A syndrome that is characterized by polyneuropathy, hearing loss, cerebellar ataxia, retinitis pigmentosa and early-onset cataract. https://www.ncbi.nlm.nih.gov/pubmed/24697911
References:	OMIM:612674 ORDO:171848
Ontology:	Human Disease ( DOID:0080181 )

Relationships

is a type of:	autosomal recessive disease syndrome autosomal recessive disease syndrome Show first 5 Terms

OTHER PHARC syndrome PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
ABHD12	abhd12	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract	612674

ZEBRAFISH MODELS

Fish	Conditions	Citations
WT + MO2-abhd12	standard conditions	Tingaud-Sequeira et al., 2017
WT + MO3-abhd12	standard conditions	Tingaud-Sequeira et al., 2017

PHENOTYPE No data available

CITATIONS (1)