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PHARC syndrome
Disease Summary
Associated Targets (1)
Tchem
1
Mondo Description 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.
Uniprot Description A slowly progressive neurologic disorder with a variable phenotype resembling Refsum disease. Clinical features include sensorineural hearing loss, visual problems related to cataracts, retinitis pigmentosa, pes cavus, ataxic and/or spastic gait disturbances with a progressive sensorimotor peripheral neuropathy. Other features include hyporeflexia, hyperreflexia, extensor plantar responses.
Disease Ontology Description An autosomal recessive disease that is characterized by polyneuropathy, hearing loss, cerebellar ataxia, retinitis pigmentosa and early-onset cataract.
Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from UniProt.
Description from Disease Ontology
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:0080181
MESH:C567203
OMIM:612674
Orphanet:171848
SCTID:723452007
UMLS:C2675204
MONDO:0012984
High level summary of knowledge for a disease, including descriptions and datasource references.