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

Wikidata entity: Q50349724



P2888 exact match Url Ontology Lookup Service (OLS) ???
P2888 exact match Url Disease Ontology - Institute for Genome Sciences @ University of Maryland ???
P2888 exact match Url Ontology Lookup Service (OLS) ???
P2293 genetic association ... Q14907998 (DNMT1) DNMT1
P31 instance of ... Q55789477 (head and neck disease) head and neck disease
P31 instance of ... Q112193867 (class of disease) class of disease
P31 instance of ... Q929833 (rare disease) rare disease
P31 instance of ... Q55788864 (developmental defect during embryogenesis) developmental defect during embryogenesis
P5008 on focus list of Wikimedia project ... Q4099686 (WikiProject Medicine) WikiProject Medicine
P279 subclass of ... Q3702898 (hereditary sensory and autonomic neuropathy) hereditary sensory and autonomic neuropathy
P279 subclass of ... Q200779 (genetic disease) genetic disease
P279 subclass of ... Q18553439 (autosomal dominant disease) autosomal dominant disease
P279 subclass of ... Q19001236 (nervous system heredodegenerative disease) nervous system heredodegenerative disease
P279 subclass of ... Q55346116 (genetic neurodegenerative disease with dementia) genetic neurodegenerative disease with dementia
P279 subclass of ... Q55785399 (developmental anomaly of metabolic origin) developmental anomaly of metabolic origin
P279 subclass of ... Q55785804 (syndromic dyslipidemia) syndromic dyslipidemia
P279 subclass of ... Q55788734 (syndromic genetic deafness) syndromic genetic deafness
P279 subclass of ... Q55789148 (metabolic disease with dementia) metabolic disease with dementia

External Ids
P699Disease Ontology IDDOID:0070158
P4317GARD rare disease ID11927
P4229ICD-10-CMG60.8
P5270Mondo IDMONDO_0013584
P492OMIM ID614116
P492OMIM ID614116
P1550Orphanet ID456318
P2892UMLS CUIC3279885
P11430UniProt disease IDDI-03189

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