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 disorder (MONDO:0021945)
..Starting node ..hearing loss disorder ()
Child Nodes:
........auditory neuropathy ()
........central hearing loss ()
........conductive hearing loss disorder ()
........hearing loss, mixed conductive-sensorineural ()
........noise induced hearing loss ()
........nonsyndromic genetic deafness ()
........presbycusis ()
........sensorineural hearing loss disorder ()
........sudden hearing loss disorder ()
........syndromic genetic deafness ()
Sister Nodes:
..auditory perceptual disorders ()
..hearing loss disorder ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	5365
Name:	hearing loss disorder
Definition:	A partial or complete loss of hearing in one or both ears. It is classified as conductive, sensory, or central.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	deafness; hearing impairment; hearing loss; hypoacuses; hypoacusis; loss of hearing; loss, hearing
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes: ABCA1; APOA2; EPHX2; GHR; ITIH4; LDLR; PPP1R17;
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal