hereditary sensory neuropathy-deafness-dementia syndrome
hereditary sensory neuropathy characterized by adult onset of progressive peripheral sensory loss, progressive hearing impairment, and early-onset dementia that has material basis in heterozygous mutation in the DNMT1 gene on chromosome 19p13
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hereditary sensory neuropathy-deafness-dementia syndrome
Summary
hereditary sensory neuropathy-deafness-dementia syndrome is a head and neck disease[1].
Key Facts
- hereditary sensory neuropathy-deafness-dementia syndrome's instance of is recorded as head and neck disease[2].
- hereditary sensory neuropathy-deafness-dementia syndrome's instance of is recorded as developmental defect during embryogenesis[3].
- hereditary sensory neuropathy-deafness-dementia syndrome's instance of is recorded as rare disease[4].
- hereditary sensory neuropathy-deafness-dementia syndrome's instance of is recorded as class of disease[5].
- hereditary sensory neuropathy-deafness-dementia syndrome is a type of hereditary sensory and autonomic neuropathy[6].
- hereditary sensory neuropathy-deafness-dementia syndrome is a type of nervous system heredodegenerative disease[7].
- hereditary sensory neuropathy-deafness-dementia syndrome is a type of genetic neurodegenerative disease with dementia[8].
- hereditary sensory neuropathy-deafness-dementia syndrome is a type of metabolic disease with dementia[9].
- hereditary sensory neuropathy-deafness-dementia syndrome is a type of developmental anomaly of metabolic origin[10].
- hereditary sensory neuropathy-deafness-dementia syndrome is a type of syndromic dyslipidemia[11].
- hereditary sensory neuropathy-deafness-dementia syndrome is a type of syndromic genetic deafness[12].
- hereditary sensory neuropathy-deafness-dementia syndrome is a type of genetic disease[13].
- hereditary sensory neuropathy-deafness-dementia syndrome is a type of autosomal dominant disease[14].
- hereditary sensory neuropathy-deafness-dementia syndrome's genetic association is recorded as DNMT1[15].
- hereditary sensory neuropathy-deafness-dementia syndrome's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0070158[16].
- hereditary sensory neuropathy-deafness-dementia syndrome's exact match is recorded as http://identifiers.org/doid/DOID:0070158[17].
- hereditary sensory neuropathy-deafness-dementia syndrome's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_456318[18].
- hereditary sensory neuropathy-deafness-dementia syndrome's on focus list of Wikimedia project is recorded as WikiProject Medicine[19].