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: agnosia (MONDO:0005638)
Parent Node: vision disorder (MONDO:0021084)
..Starting node ..visual agnosia (disease) ()
Child Nodes:
........alexia ()
........alexia without agraphia ()
........apperceptive agnosia ()
........associative visual agnosia ()
........color agnosia ()
........form agnosia ()
........topographical agnosia ()
Sister Nodes:
..Alice in wonderland syndrome ()
..amblyopia (disease) ()
..binocular vision disease ()
..blindness (disorder) ()
..cerebral visual impairment ()
..visual agnosia (disease) ()
..visual pathway disease ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	685
Name:	visual agnosia (disease)
Definition:	An inability to recognize or interpret objects by sight.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	visual agnosia; visuoperceptual agnosia
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal