autosomal recessive disease PHARC syndrome https://github.com/monarch-initiative/mondo/issues/6744 https://www.malacards.org/card/polyneuropathy_hearing_loss_ataxia_retinitis_pigmentosa_and_cataract SCTID:723452007 peripheral neuropathy, Fiskerstrand type MESH:C567203 GARD:0017071 PHARC Fiskerstrand type peripheral neuropathy is a slowly-progressive Refsum-like disorder associating signs of peripheral neuropathy with late-onset hearing loss, cataract and pigmentary retinopathy that become evident during the third decade of life. MEDGEN:436373 Orphanet:171848 MONDO:0012984 DOID:0080181 polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract PHARC syndrome OMIM:612674 UMLS:C2675204 syndromic dyslipidemia disorder of phospholipids, sphingolipids and fatty acids biosynthesis hereditary peripheral neuropathy Polyneuropathy - hearing loss - ataxia - retinitis pigmentosa - cataract