Human Phenotype Ontology 
Grandparent Node:
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Abnormal nervous system physiology (HP:0012638)help
Parent Node:
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Abnormality of higher mental function (HP:0011446)help
..Starting node
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Agnosia (HP:0010524)help
Term ID: 10524
Name: Agnosia
Synonym:
Definition: Inability to recognize objects not because of sensory deficit but because of the inability to combine components of sensory impressions into a complete pattern. Thus, agnosia is a neurological condition which results in an inability to know, to name, to identify, and to extract meaning from visual, auditory, or tactile impressions.
Comments:
Reference: HP:0010524
Genes and Diseases:
 
       Child Nodes:
........expandFinger agnosia (HP:0010525) help
........expandAstereognosia (HP:0010527) help
........expandProsopagnosia (HP:0010528) help
........expandVisual agnosia (HP:0030222) help

 Sister Nodes: 
..expandApraxia (HP:0002186) help
..expandCognitive impairment (HP:0100543) help
..expandLanguage impairment (HP:0002463) help
..expandMicrographia (HP:0031908) help
..expandNeurological speech impairment (HP:0002167) help
..expandOptic ataxia (HP:0031868) help
..expandReduced consciousness/confusion (HP:0004372) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0010524HP:0010524Agnosia0ABCA7 CL E G H1034737ORPHA:1020Early-onset autosomal dominant Alzheimer disease3
HP:0010524HP:0010524Agnosia0ABCD1 CL E G H21561ORPHA:139396X-linked cerebral adrenoleukodystrophy135
HP:0010524HP:0010524Agnosia0APOE CL E G H348613OMIM:607822Alzheimer disease 3HP:0040283 - Occasional39
HP:0010524HP:0010524Agnosia0APP CL E G H351620ORPHA:1020Early-onset autosomal dominant Alzheimer disease74
HP:0010524HP:0010524Agnosia0ATP6AP2 CL E G H1015918305OMIM:300423MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE; MRXSH36
HP:0010524HP:0010524Agnosia0ATP6AP2 CL E G H1015918305ORPHA:93952X-linked intellectual disability, Hedera type36
HP:0010524HP:0010524Agnosia0BMPR1A CL E G H6571076ORPHA:440437Familial colorectal cancer Type XHP:0040283 - Occasional385
HP:0010524HP:0010524Agnosia0C9ORF72 CL E G H20322828337ORPHA:100069Semantic dementia56
HP:0010524HP:0010524Agnosia0CEP85L CL E G H38711921638OMIM:618873LISSENCEPHALY 10; LIS101
HP:0010524HP:0010524Agnosia0CHMP2B CL E G H2597824537ORPHA:100069Semantic dementia42
HP:0010524HP:0010524Agnosia0EPCAM CL E G H407211529ORPHA:144Lynch syndromeHP:0040283 - Occasional170
HP:0010524HP:0010524Agnosia0EPRS1 CL E G H20583418OMIM:617951Leukodystrophy, hypomyelinating, 15
HP:0010524HP:0010524Agnosia0FAN1 CL E G H2290929170ORPHA:144Lynch syndromeHP:0040283 - Occasional15
HP:0010524HP:0010524Agnosia0GRN CL E G H28964601ORPHA:100069Semantic dementia126
HP:0010524HP:0010524Agnosia0KRAS CL E G H38456407ORPHA:144Lynch syndromeHP:0040283 - Occasional196
HP:0010524HP:0010524Agnosia0MAPT CL E G H41376893ORPHA:100069Semantic dementia140
HP:0010524HP:0010524Agnosia0MLH1 CL E G H42927127ORPHA:144Lynch syndromeHP:0040283 - Occasional1819
HP:0010524HP:0010524Agnosia0MLH3 CL E G H270307128ORPHA:144Lynch syndromeHP:0040283 - Occasional131
HP:0010524HP:0010524Agnosia0MSH2 CL E G H44367325ORPHA:144Lynch syndromeHP:0040283 - Occasional2162
HP:0010524HP:0010524Agnosia0MSH6 CL E G H29567329ORPHA:144Lynch syndromeHP:0040283 - Occasional2232
HP:0010524HP:0010524Agnosia0PIK3CA CL E G H52908975ORPHA:144Lynch syndromeHP:0040283 - Occasional162
HP:0010524HP:0010524Agnosia0PMS1 CL E G H53789121ORPHA:144Lynch syndromeHP:0040283 - Occasional56
HP:0010524HP:0010524Agnosia0PMS2 CL E G H53959122ORPHA:144Lynch syndromeHP:0040283 - Occasional1121
HP:0010524HP:0010524Agnosia0PSEN1 CL E G H56639508OMIM:607822Alzheimer disease 3HP:0040283 - Occasional241
HP:0010524HP:0010524Agnosia0PSEN1 CL E G H56639508ORPHA:1020Early-onset autosomal dominant Alzheimer disease241
HP:0010524HP:0010524Agnosia0PSEN1 CL E G H56639508ORPHA:100069Semantic dementia241
HP:0010524HP:0010524Agnosia0PSEN2 CL E G H56649509ORPHA:1020Early-onset autosomal dominant Alzheimer disease59
HP:0010524HP:0010524Agnosia0RPS20 CL E G H622410405ORPHA:440437Familial colorectal cancer Type XHP:0040283 - Occasional1
HP:0010524HP:0010524Agnosia0SEMA4A CL E G H6421810729ORPHA:440437Familial colorectal cancer Type XHP:0040283 - Occasional48
HP:0010524HP:0010524Agnosia0SORL1 CL E G H665311185ORPHA:1020Early-onset autosomal dominant Alzheimer disease3
HP:0010524HP:0010524Agnosia0TGFBR2 CL E G H704811773ORPHA:144Lynch syndromeHP:0040283 - Occasional253
HP:0010524HP:0010524Agnosia0TMEM106B CL E G H5466422407ORPHA:100069Semantic dementia
HP:0010524HP:0010524Agnosia0TOMM40 CL E G H1045218001ORPHA:1020Early-onset autosomal dominant Alzheimer disease
HP:0010524HP:0010524Agnosia0TREM2 CL E G H5420917761ORPHA:1020Early-onset autosomal dominant Alzheimer disease31
HP:0010524HP:0010524Agnosia0TREM2 CL E G H5420917761ORPHA:2770Nasu-Hakola diseaseHP:0040282 - Frequent31
HP:0010524HP:0010524Agnosia0TREM2 CL E G H5420917761OMIM:618193POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2; PLOSL231
HP:0010524HP:0010524Agnosia0TREM2 CL E G H5420917761ORPHA:100069Semantic dementia31
HP:0010524HP:0010524Agnosia0TYROBP CL E G H730512449ORPHA:2770Nasu-Hakola diseaseHP:0040282 - Frequent22
HP:0010524HP:0010524Agnosia0TYROBP CL E G H730512449OMIM:221770Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy.22
HP:0010524HP:0010525Finger agnosia1ABCA7 CL E G H1034737ORPHA:1020Early-onset autosomal dominant Alzheimer diseaseHP:0040283 - Occasional3
HP:0010524HP:0010527Astereognosia1ABCD1 CL E G H21561ORPHA:139396X-linked cerebral adrenoleukodystrophyHP:0040283 - Occasional135
HP:0010524HP:0030222Visual agnosia1ABCD1 CL E G H21561ORPHA:139396X-linked cerebral adrenoleukodystrophyHP:0040283 - Occasional135
HP:0010524HP:0010525Finger agnosia1APP CL E G H351620ORPHA:1020Early-onset autosomal dominant Alzheimer diseaseHP:0040283 - Occasional74
HP:0010524HP:0010527Astereognosia1ATP6AP2 CL E G H1015918305OMIM:300423MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE; MRXSH36
HP:0010524HP:0010527Astereognosia1ATP6AP2 CL E G H1015918305ORPHA:93952X-linked intellectual disability, Hedera typeHP:0040283 - Occasional36
HP:0010524HP:0030222Visual agnosia1C9ORF72 CL E G H20322828337ORPHA:100069Semantic dementiaHP:0040281 - Very frequent56
HP:0010524HP:0030222Visual agnosia1CEP85L CL E G H38711921638OMIM:618873LISSENCEPHALY 10; LIS101
HP:0010524HP:0030222Visual agnosia1CHMP2B CL E G H2597824537ORPHA:100069Semantic dementiaHP:0040281 - Very frequent42
HP:0010524HP:0010528Prosopagnosia1EPRS1 CL E G H20583418OMIM:617951Leukodystrophy, hypomyelinating, 15
HP:0010524HP:0030222Visual agnosia1GRN CL E G H28964601ORPHA:100069Semantic dementiaHP:0040281 - Very frequent126
HP:0010524HP:0030222Visual agnosia1MAPT CL E G H41376893ORPHA:100069Semantic dementiaHP:0040281 - Very frequent140
HP:0010524HP:0010525Finger agnosia1PSEN1 CL E G H56639508ORPHA:1020Early-onset autosomal dominant Alzheimer diseaseHP:0040283 - Occasional241
HP:0010524HP:0030222Visual agnosia1PSEN1 CL E G H56639508ORPHA:100069Semantic dementiaHP:0040281 - Very frequent241
HP:0010524HP:0010525Finger agnosia1PSEN2 CL E G H56649509ORPHA:1020Early-onset autosomal dominant Alzheimer diseaseHP:0040283 - Occasional59
HP:0010524HP:0010525Finger agnosia1SORL1 CL E G H665311185ORPHA:1020Early-onset autosomal dominant Alzheimer diseaseHP:0040283 - Occasional3
HP:0010524HP:0030222Visual agnosia1TMEM106B CL E G H5466422407ORPHA:100069Semantic dementiaHP:0040281 - Very frequent
HP:0010524HP:0010525Finger agnosia1TOMM40 CL E G H1045218001ORPHA:1020Early-onset autosomal dominant Alzheimer diseaseHP:0040283 - Occasional
HP:0010524HP:0010525Finger agnosia1TREM2 CL E G H5420917761ORPHA:1020Early-onset autosomal dominant Alzheimer diseaseHP:0040283 - Occasional31
HP:0010524HP:0030222Visual agnosia1TREM2 CL E G H5420917761ORPHA:100069Semantic dementiaHP:0040281 - Very frequent31


Genes (32) :ABCA7 ABCD1 APOE APP ATP6AP2 BMPR1A C9ORF72 CEP85L CHMP2B EPCAM EPRS1 FAN1 GRN KRAS MAPT MLH1 MLH3 MSH2 MSH6 PIK3CA PMS1 PMS2 PSEN1 PSEN2 RPS20 SEMA4A SORL1 TGFBR2 TMEM106B TOMM40 TREM2 TYROBP

Diseases (13) :ORPHA:1020 ORPHA:139396 OMIM:607822 OMIM:300423 ORPHA:93952 ORPHA:440437 ORPHA:100069 OMIM:618873 ORPHA:144 OMIM:617951 ORPHA:2770 OMIM:618193 OMIM:221770
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.