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: auditory system disease (MONDO:0002409)
Parent Node: perceptual disorders (MONDO:0024417)
..Starting node ..hearing disorder ()
Child Nodes:
........auditory perceptual disorders ()
........hearing loss disorder ()
Sister Nodes:
..agnosia ()
..allesthesia ()
..apraxia ()
..hearing disorder ()
..synesthesia ()
..vestibular disease ()
..vision disorder ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	21945
Name:	hearing disorder
Definition:	A disorder characterized by the partial or complete loss of the ability to detect sounds due to damage to the ear structures or inability of the brain to properly interpret or process the auditory signals it receives from the anatomic structures of the ear.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	auditory alteration; disorder of hearing; hearing disorder
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal