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: hearing loss disorder (MONDO:0005365)
Parent Node: inherited auditory system disease (MONDO:0037940)
..Starting node ..nonsyndromic genetic deafness ()
Child Nodes:
........DFNY1 ()
........postlingual non-syndromic genetic deafness ()
........prelingual non-syndromic genetic deafness ()
Sister Nodes:
..age-related hearing impairment 1 ()
..age-related hearing impairment 2 ()
..benign paroxysmal positional nystagmus ()
..congenital corneal opacities, cornea guttata, and corectopia ()
..Meniere disease ()
..motion sickness ()
..noise induced hearing loss ()
..nonsyndromic genetic deafness ()
..OTSC1 ()
..OTSC10 ()
..OTSC2 ()
..OTSC3 ()
..OTSC4 ()
..OTSC5 ()
..OTSC7 ()
..OTSC8 ()
..syndromic genetic deafness ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	19497
Name:	nonsyndromic genetic deafness
Definition:	A disease characterized by hearing loss that is not part of a larger syndrome.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	familial deafness; isolated genetic deafness; non-syndromic genetic deafness; nonsyndromic deafness; nonsyndromic hearing loss; nonsyndromic hearing loss; nonsyndromic hereditary hearing loss
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal