Human Phenotype Ontology

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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

Grandparent Node:
Abnormality of higher mental function (HP:0011446)

Parent Node:
Neurological speech impairment (HP:0002167)

..Starting node
..Alexia (HP:0010523)

Term ID:

10523

Name:

Alexia

Synonym:

Text blindness; Word blindness

Definition:

An acquired type of sensory aphasia where damage to the brain leads to the loss of the ability to read.

Comments:

Reference:

HP:0010523

Genes and Diseases:

Child Nodes:

Sister Nodes:

Absent speech (HP:0001344)

Anarthria (HP:0002425)

Anomic aphasia (HP:0030784)

Aphasia (HP:0002381)

Deficit in nonword repetition (HP:0002526)

Dysarthria (HP:0001260)

Dysgraphia (HP:0010526)

Dysphonia (HP:0001618)

Echolalia (HP:0010529)

Grammar-specific speech disorder (HP:0006977)

Incomprehensible speech (HP:0002546)

Loss of speech (HP:0002371)

Mutism (HP:0002300)

obsolete Dysphasia (HP:0002357)

Palilalia (HP:0031814)

Poor speech (HP:0002465)

Scanning speech (HP:0002168)

Stuttering (HP:0025268)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0010523	HP:0010523	Alexia	0	C9ORF72 CL E G H	203228	28337	ORPHA:100070	Progressive non-fluent aphasia	HP:0040282 - Frequent	56
HP:0010523	HP:0010523	Alexia	0	C9ORF72 CL E G H	203228	28337	ORPHA:100069	Semantic dementia	HP:0040282 - Frequent	56
HP:0010523	HP:0010523	Alexia	0	CHMP2B CL E G H	25978	24537	ORPHA:100070	Progressive non-fluent aphasia	HP:0040282 - Frequent	42
HP:0010523	HP:0010523	Alexia	0	CHMP2B CL E G H	25978	24537	ORPHA:100069	Semantic dementia	HP:0040282 - Frequent	42
HP:0010523	HP:0010523	Alexia	0	GRN CL E G H	2896	4601	ORPHA:100070	Progressive non-fluent aphasia	HP:0040282 - Frequent	126
HP:0010523	HP:0010523	Alexia	0	GRN CL E G H	2896	4601	ORPHA:100069	Semantic dementia	HP:0040282 - Frequent	126
HP:0010523	HP:0010523	Alexia	0	MAPT CL E G H	4137	6893	ORPHA:100070	Progressive non-fluent aphasia	HP:0040282 - Frequent	140
HP:0010523	HP:0010523	Alexia	0	MAPT CL E G H	4137	6893	ORPHA:100069	Semantic dementia	HP:0040282 - Frequent	140
HP:0010523	HP:0010523	Alexia	0	PSEN1 CL E G H	5663	9508	ORPHA:100070	Progressive non-fluent aphasia	HP:0040282 - Frequent	241
HP:0010523	HP:0010523	Alexia	0	PSEN1 CL E G H	5663	9508	ORPHA:100069	Semantic dementia	HP:0040282 - Frequent	241
HP:0010523	HP:0010523	Alexia	0	TMEM106B CL E G H	54664	22407	ORPHA:100070	Progressive non-fluent aphasia	HP:0040282 - Frequent
HP:0010523	HP:0010523	Alexia	0	TMEM106B CL E G H	54664	22407	ORPHA:100069	Semantic dementia	HP:0040282 - Frequent
HP:0010523	HP:0010523	Alexia	0	TREM2 CL E G H	54209	17761	ORPHA:100070	Progressive non-fluent aphasia	HP:0040282 - Frequent	31
HP:0010523	HP:0010523	Alexia	0	TREM2 CL E G H	54209	17761	ORPHA:100069	Semantic dementia	HP:0040282 - Frequent	31
HP:0010523	HP:0010523	Alexia	0	VCP CL E G H	7415	12666	ORPHA:100070	Progressive non-fluent aphasia	HP:0040282 - Frequent	63

Genes (8) :C9ORF72 CHMP2B GRN MAPT PSEN1 TMEM106B TREM2 VCP

Diseases (2) :ORPHA:100070 ORPHA:100069

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

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