PHARC syndrome
autosomal recessive disease that is characterized by polyneuropathy, hearing loss, cerebellar ataxia, retinitis pigmentosa and early-onset cataract
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PHARC syndrome
Summary
PHARC syndrome is a head and neck disease[1]. It is known by 9 alternative names across languages and contexts.[2]
Key Facts
- PHARC syndrome's instance of is recorded as head and neck disease[3].
- PHARC syndrome's instance of is recorded as developmental defect during embryogenesis[4].
- PHARC syndrome's instance of is recorded as rare disease[5].
- PHARC syndrome's instance of is recorded as class of disease[6].
- PHARC syndrome is a type of autosomal recessive disease[7].
- PHARC syndrome is a type of peripheral neuropathy[8].
- PHARC syndrome is a type of hereditary retinal dystrophy[9].
- PHARC syndrome is a type of developmental anomaly of metabolic origin[10].
- PHARC syndrome is a type of syndromic dyslipidemia[11].
- PHARC syndrome is a type of syndromic genetic deafness[12].
- PHARC syndrome is a type of disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement[13].
- PHARC syndrome is a type of syndromic retinitis pigmentosa[14].
- PHARC syndrome is a type of syndrome[15].
- PHARC syndrome's genetic association is recorded as ABHD12[16].
- PHARC syndrome's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0080181[17].
- PHARC syndrome's exact match is recorded as http://identifiers.org/doid/DOID:0080181[18].
- PHARC syndrome's on focus list of Wikimedia project is recorded as WikiProject Medicine[19].
Why It Matters
PHARC syndrome is known by 9 alternative names across languages and contexts.[2]