MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

*:HP: HPO terms, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO

Disease Browser
Parent Node: autonomic nervous system disease (MONDO:0001292)
Parent Node: peripheral neuropathy (MONDO:0005244)
..Starting node ..autonomic neuropathy ()
Child Nodes:
........diabetic autonomic neuropathy ()
........Horner syndrome ()
Sister Nodes:
..acquired peripheral neuropathy ()
..autoimmune neuropathy ()
..autonomic neuropathy ()
..axonal neuropathy ()
..diabetic neuropathy ()
..genetic peripheral neuropathy ()
..inflammatory and toxic neuropathy ()
..ischemic neuropathy ()
..mononeuropathy ()
..motor peripheral neuropathy ()
..nerve compression syndrome ()
..nerve plexus disease ()
..neuralgia ()
..neuritis ()
..neuromuscular disease ()
..peripheral nerve lesion ()
..polyneuropathy ()
..PRPS1 deficiency disorder ()
..sensory peripheral neuropathy ()
..uremic neuropathy ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	1300
Name:	autonomic neuropathy
Definition:	An inherited or acquired peripheral neuropathy affecting the autonomic nervous system. It results in disruption of the involuntary body functions. Inherited causes include Fabry disease and porphyrias. Acquired causes include diabetes, uremia, hepatic disorders, vitamin deficiencies, toxins, and drug toxicities.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	autonomic nervous system peripheral neuropathy; autonomic peripheral neuropathy; peripheral neuropathy of autonomic nervous system
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal