GlyCosmos Portal

PHARC syndrome

Synonym

Definition

A syndrome that is characterized by polyneuropathy, hearing loss, cerebellar ataxia, retinitis pigmentosa and early-onset cataract.

Super Class

autosomal recessive disease syndrome

Disease Ontology

DOID:0080181

Mondo Disease Ontology

ORDO

OMIM

MGI genotype (from TogoID)

Related Genes

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
26090	ABHD12	abhydrolase domain containing 12, lysophospholipase	Alliance of Genome Resources

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
76192	Abhd12	abhydrolase domain containing 12	Alliance of Genome Resources

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
499913	Abhd12	abhydrolase domain containing 12, lysophospholipase	Alliance of Genome Resources

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
767657	abhd12	abhydrolase domain containing 12, lysophospholipase	Alliance of Genome Resources

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source	Organism
100216158	abhd12	abhydrolase domain containing 12	Alliance of Genome Resources	Xenopus tropicalis (tropical clawed frog)

Displaying entries **1 - 10** of 27 in total

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HPO ID	HPO Term
HP:0001761	Pes cavus
HP:0000762	Decreased nerve conduction velocity
HP:0007108	Demyelinating peripheral neuropathy
HP:0000518	Cataract
HP:0003487	Babinski sign
HP:0001265	Hyporeflexia
HP:0000407	Sensorineural hearing impairment
HP:0001310	Dysmetria
HP:0003677	Slowly progressive
HP:0000639	Nystagmus