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:
Neurodevelopmental abnormality (HP:0012759)

Parent Node:
Specific learning disability (HP:0001328)

..Starting node
..Dyslexia (HP:0010522)

Term ID:

10522

Name:

Dyslexia

Synonym:

Reading disability

Definition:

A learning disorder characterized primarily by difficulties in learning to read and spell. Dyslectic children also exhibit a tendency to read words from right to left and to confuse letters such as b and d whose orientation is important for their identification. Children with dyslexia appear to be impaired in phonemic skills (the ability to associate visual symbols with the sounds they represent).

Comments:

Reference:

HP:0010522

Genes and Diseases:

Child Nodes:

Sister Nodes:

Dyscalculia (HP:0002442)

Impaired visuospatial constructive cognition (HP:0010794)

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:0010522	HP:0010522	Dyslexia	0	APC CL E G H	324	583	ORPHA:261584	Familial adenomatous polyposis due to 5q22.2 microdeletion	HP:0040282 - Frequent	3179
HP:0010522	HP:0010522	Dyslexia	0	C9ORF72 CL E G H	203228	28337	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent	56
HP:0010522	HP:0010522	Dyslexia	0	C9ORF72 CL E G H	203228	28337	ORPHA:100069	Semantic dementia	HP:0040282 - Frequent	56
HP:0010522	HP:0010522	Dyslexia	0	CACNA1H CL E G H	8912	1395	ORPHA:64280	Childhood absence epilepsy	HP:0040283 - Occasional	75
HP:0010522	HP:0010522	Dyslexia	0	CHMP2B CL E G H	25978	24537	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent	42
HP:0010522	HP:0010522	Dyslexia	0	CHMP2B CL E G H	25978	24537	ORPHA:100069	Semantic dementia	HP:0040282 - Frequent	42
HP:0010522	HP:0010522	Dyslexia	0	DNAAF4 CL E G H	161582	21493	OMIM:127700	Dyslexia, susceptibility to, 1	.	27
HP:0010522	HP:0010522	Dyslexia	0	FRMD5 CL E G H	84978	28214	OMIM:620094
HP:0010522	HP:0010522	Dyslexia	0	GABRA1 CL E G H	2554	4075	ORPHA:64280	Childhood absence epilepsy	HP:0040283 - Occasional	134
HP:0010522	HP:0010522	Dyslexia	0	GABRB3 CL E G H	2562	4083	ORPHA:64280	Childhood absence epilepsy	HP:0040283 - Occasional	57
HP:0010522	HP:0010522	Dyslexia	0	GABRG2 CL E G H	2566	4087	ORPHA:64280	Childhood absence epilepsy	HP:0040283 - Occasional	139
HP:0010522	HP:0010522	Dyslexia	0	GCLC CL E G H	2729	4311	ORPHA:33574	Glutamate-cysteine ligase deficiency	HP:0040283 - Occasional	2
HP:0010522	HP:0010522	Dyslexia	0	GRN CL E G H	2896	4601	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent	126
HP:0010522	HP:0010522	Dyslexia	0	GRN CL E G H	2896	4601	ORPHA:100069	Semantic dementia	HP:0040282 - Frequent	126
HP:0010522	HP:0010522	Dyslexia	0	JRK CL E G H	8629	6199	ORPHA:64280	Childhood absence epilepsy	HP:0040283 - Occasional
HP:0010522	HP:0010522	Dyslexia	0	MAP1B CL E G H	4131	6836	OMIM:618918	PERIVENTRICULAR NODULAR HETEROTOPIA 9; PVNH9
HP:0010522	HP:0010522	Dyslexia	0	MAPT CL E G H	4137	6893	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent	140
HP:0010522	HP:0010522	Dyslexia	0	MAPT CL E G H	4137	6893	ORPHA:100069	Semantic dementia	HP:0040282 - Frequent	140
HP:0010522	HP:0010522	Dyslexia	0	NIPA1 CL E G H	123606	17043	ORPHA:261183	15q11.2 microdeletion syndrome	HP:0040282 - Frequent	117
HP:0010522	HP:0010522	Dyslexia	0	NIPA2 CL E G H	81614	17044	ORPHA:261183	15q11.2 microdeletion syndrome	HP:0040282 - Frequent	1
HP:0010522	HP:0010522	Dyslexia	0	OPA3 CL E G H	80207	8142	ORPHA:67036	Autosomal dominant optic atrophy and cataract	HP:0040283 - Occasional	163
HP:0010522	HP:0010522	Dyslexia	0	PLA2G6 CL E G H	8398	9039	ORPHA:199351	Adult-onset dystonia-parkinsonism	HP:0040282 - Frequent	133
HP:0010522	HP:0010522	Dyslexia	0	PNKP CL E G H	11284	9154	ORPHA:459033	Ataxia-oculomotor apraxia type 4	HP:0040283 - Occasional	244
HP:0010522	HP:0010522	Dyslexia	0	PSEN1 CL E G H	5663	9508	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent	241
HP:0010522	HP:0010522	Dyslexia	0	PSEN1 CL E G H	5663	9508	ORPHA:100069	Semantic dementia	HP:0040282 - Frequent	241
HP:0010522	HP:0010522	Dyslexia	0	SARDH CL E G H	1757	10536	ORPHA:3129	Sarcosinemia	HP:0040283 - Occasional	4
HP:0010522	HP:0010522	Dyslexia	0	SLC2A1 CL E G H	6513	11005	ORPHA:64280	Childhood absence epilepsy	HP:0040283 - Occasional	255
HP:0010522	HP:0010522	Dyslexia	0	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0010522	HP:0010522	Dyslexia	0	SQSTM1 CL E G H	8878	11280	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent	62
HP:0010522	HP:0010522	Dyslexia	0	STIM1 CL E G H	6786	11386	OMIM:185070	Stormorken syndrome	.	31
HP:0010522	HP:0010522	Dyslexia	0	TCF12 CL E G H	6938	11623	OMIM:619718	HYPOGONADOTROPIC HYPOGONADISM 26 WITH OR WITHOUT ANOSMIA; HH26		28
HP:0010522	HP:0010522	Dyslexia	0	TMEM106B CL E G H	54664	22407	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent
HP:0010522	HP:0010522	Dyslexia	0	TMEM106B CL E G H	54664	22407	ORPHA:100069	Semantic dementia	HP:0040282 - Frequent
HP:0010522	HP:0010522	Dyslexia	0	TREM2 CL E G H	54209	17761	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent	31
HP:0010522	HP:0010522	Dyslexia	0	TREM2 CL E G H	54209	17761	ORPHA:100069	Semantic dementia	HP:0040282 - Frequent	31
HP:0010522	HP:0010522	Dyslexia	0	TUBG1 CL E G H	7283	12417	ORPHA:261183	15q11.2 microdeletion syndrome	HP:0040282 - Frequent	14
HP:0010522	HP:0010522	Dyslexia	0	VCP CL E G H	7415	12666	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent	63
HP:0010522	HP:0010522	Dyslexia	0	VPS13D CL E G H	55187	23595	ORPHA:95434	Autosomal recessive cerebellar ataxia-movement disorder syndrome	HP:0040282 - Frequent
HP:0010522	HP:0010522	Dyslexia	0	VPS41 CL E G H	27072	12713	ORPHA:95434	Autosomal recessive cerebellar ataxia-movement disorder syndrome	HP:0040282 - Frequent

Genes (32) :APC C9ORF72 CACNA1H CHMP2B DNAAF4 FRMD5 GABRA1 GABRB3 GABRG2 GCLC GRN JRK MAP1B MAPT NIPA1 NIPA2 OPA3 PLA2G6 PNKP PSEN1 SARDH SLC2A1 SPTBN1 SQSTM1 STIM1 TCF12 TMEM106B TREM2 TUBG1 VCP VPS13D VPS41

Diseases (17) :ORPHA:261584 ORPHA:275864 ORPHA:100069 ORPHA:64280 OMIM:127700 OMIM:620094 ORPHA:33574 OMIM:618918 ORPHA:261183 ORPHA:67036 ORPHA:199351 ORPHA:459033 ORPHA:3129 OMIM:619475 OMIM:185070 OMIM:619718 ORPHA:95434

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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