MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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MSeqDR-LSDB
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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

MSeqDR Mitochondrial Disease Portal

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

Disease Browser
Parent Node: postlingual non-syndromic genetic deafness (MONDO:0016298)
Parent Node: prelingual non-syndromic genetic deafness (MONDO:0016297)
..Starting node ..autosomal dominant nonsyndromic deafness ()
Child Nodes:
........autosomal dominant auditory neuropathy 1 ()
........autosomal dominant nonsyndromic deafness 1 ()
........autosomal dominant nonsyndromic deafness 10 ()
........autosomal dominant nonsyndromic deafness 11 ()
........autosomal dominant nonsyndromic deafness 12 ()
........autosomal dominant nonsyndromic deafness 13 ()
........autosomal dominant nonsyndromic deafness 15 ()
........autosomal dominant nonsyndromic deafness 16 ()
........autosomal dominant nonsyndromic deafness 17 ()
........autosomal dominant nonsyndromic deafness 18 ()
........autosomal dominant nonsyndromic deafness 20 ()
........autosomal dominant nonsyndromic deafness 21 ()
........autosomal dominant nonsyndromic deafness 22 ()
........autosomal dominant nonsyndromic deafness 23 ()
........autosomal dominant nonsyndromic deafness 24 ()
........autosomal dominant nonsyndromic deafness 25 ()
........autosomal dominant nonsyndromic deafness 27 ()
........autosomal dominant nonsyndromic deafness 28 ()
........autosomal dominant nonsyndromic deafness 2A ()
........autosomal dominant nonsyndromic deafness 2B ()
........autosomal dominant nonsyndromic deafness 30 ()
........autosomal dominant nonsyndromic deafness 31 ()
........autosomal dominant nonsyndromic deafness 33 ()
........autosomal dominant nonsyndromic deafness 36 ()
........autosomal dominant nonsyndromic deafness 3A ()
........autosomal dominant nonsyndromic deafness 3B ()
........autosomal dominant nonsyndromic deafness 40 ()
........autosomal dominant nonsyndromic deafness 41 ()
........autosomal dominant nonsyndromic deafness 43 ()
........autosomal dominant nonsyndromic deafness 44 ()
........autosomal dominant nonsyndromic deafness 47 ()
........autosomal dominant nonsyndromic deafness 48 ()
........autosomal dominant nonsyndromic deafness 49 ()
........autosomal dominant nonsyndromic deafness 4A ()
........autosomal dominant nonsyndromic deafness 4B ()
........autosomal dominant nonsyndromic deafness 5 ()
........autosomal dominant nonsyndromic deafness 50 ()
........autosomal dominant nonsyndromic deafness 51 ()
........autosomal dominant nonsyndromic deafness 52 ()
........autosomal dominant nonsyndromic deafness 53 ()
........autosomal dominant nonsyndromic deafness 54 ()
........autosomal dominant nonsyndromic deafness 56 ()
........autosomal dominant nonsyndromic deafness 58 ()
........autosomal dominant nonsyndromic deafness 59 ()
........autosomal dominant nonsyndromic deafness 6 ()
........autosomal dominant nonsyndromic deafness 64 ()
........autosomal dominant nonsyndromic deafness 65 ()
........autosomal dominant nonsyndromic deafness 66 ()
........autosomal dominant nonsyndromic deafness 67 ()
........autosomal dominant nonsyndromic deafness 68 ()
........autosomal dominant nonsyndromic deafness 69 ()
........autosomal dominant nonsyndromic deafness 7 ()
........autosomal dominant nonsyndromic deafness 70 ()
........autosomal dominant nonsyndromic deafness 9 ()
........deafness, autosomal dominant 34, with or without inflammation ()
........deafness, autosomal dominant 71 ()
........deafness, autosomal dominant 72 ()
........deafness, autosomal dominant 73 ()
........deafness, autosomal dominant 74 ()
Sister Nodes:
..autosomal dominant nonsyndromic deafness ()
..autosomal recessive nonsyndromic deafness ()
..mitochondrial non-syndromic sensorineural deafness () L: 00159;
..X-linked nonsyndromic deafness ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	19587
Name:	autosomal dominant nonsyndromic deafness
Definition:	Autosomal dominant form of nonsyndromic deafness.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	autosomal dominant deafness; autosomal dominant isolated deafness; autosomal dominant isolated neurosensory deafness type DFNA; autosomal dominant isolated neurosensory hearing loss type DFNA; autosomal dominant isolated sensorineural deafness type DFNA; autosomal dominant isolated sensorineural hea
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal

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