MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

Hello! Guest! Please Login or Register! Clinician Mode

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: genetic peripheral neuropathy (MONDO:0020127)
Parent Node: sensory peripheral neuropathy (MONDO:0002321)
..Starting node ..hereditary sensory and autonomic neuropathy ()
Child Nodes:
........autosomal dominant hereditary sensory and autonomic neuropathy ()
........autosomal recessive hereditary sensory and autonomic neuropathy ()
........cold-induced sweating syndrome - hyperthermia spectrum ()
........congenital insensitivity to pain with hyperhidrosis ()
........hereditary sensory and autonomic neuropathy type 2 ()
........hereditary sensory neuropathy X-linked ()
........neuropathy, hereditary sensory, atypical ()
........polyneuropathy-hand defect syndrome ()
........X-linked hereditary sensory and autonomic neuropathy with deafness ()
Sister Nodes:
..hereditary sensory and autonomic neuropathy ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	15364
Name:	hereditary sensory and autonomic neuropathy
Definition:	An instance of sensory peripheral neuropathy that is caused by an inherited modification of the individual's genome.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	CIP; congenital insensitivity to pain; congenital pain insensitivity; hereditary sensory and autonomic neuropathy; hereditary sensory autonomic neuropathy; hereditary sensory neuropathy; hereditary sensory peripheral neuropathy; HSAN; indifference to pain, Congenital, autosomal recessive; indifferen
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal