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:
Neurological speech impairment (HP:0002167)

Parent Node:
Aphasia (HP:0002381)

..Starting node
..Expressive aphasia (HP:0002427)

Term ID:

2427

Name:

Expressive aphasia

Synonym:

Broca's aphasia; Loss of expressive speech; Motor aphasia; Non-fluent aphasia

Definition:

Impairment of expressive language and relative preservation of receptive language abilities. That is, the patient understands language (speech, writing) but cannot express it.

Comments:

Reference:

HP:0002427

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0002427	HP:0002427	Expressive aphasia	0	C9ORF72 CL E G H	203228	28337	ORPHA:100070	Progressive non-fluent aphasia	HP:0040283 - Occasional	56
HP:0002427	HP:0002427	Expressive aphasia	0	CHMP2B CL E G H	25978	24537	ORPHA:100070	Progressive non-fluent aphasia	HP:0040283 - Occasional	42
HP:0002427	HP:0002427	Expressive aphasia	0	DEPDC5 CL E G H	9681	18423	ORPHA:98820	Familial focal epilepsy with variable foci	HP:0040283 - Occasional	172
HP:0002427	HP:0002427	Expressive aphasia	0	FA2H CL E G H	79152	21197	ORPHA:329308	Fatty acid hydroxylase-associated neurodegeneration	HP:0040282 - Frequent	76
HP:0002427	HP:0002427	Expressive aphasia	0	GJB1 CL E G H	2705	4283	OMIM:302800	Charcot-Marie-Tooth neuropathy, X-linked dominant, 1	.	107
HP:0002427	HP:0002427	Expressive aphasia	0	GRN CL E G H	2896	4601	ORPHA:100070	Progressive non-fluent aphasia	HP:0040283 - Occasional	126
HP:0002427	HP:0002427	Expressive aphasia	0	MAPT CL E G H	4137	6893	ORPHA:100070	Progressive non-fluent aphasia	HP:0040283 - Occasional	140
HP:0002427	HP:0002427	Expressive aphasia	0	NPRL2 CL E G H	10641	24969	ORPHA:98820	Familial focal epilepsy with variable foci	HP:0040283 - Occasional	4
HP:0002427	HP:0002427	Expressive aphasia	0	NPRL3 CL E G H	8131	14124	ORPHA:98820	Familial focal epilepsy with variable foci	HP:0040283 - Occasional	7
HP:0002427	HP:0002427	Expressive aphasia	0	PSEN1 CL E G H	5663	9508	ORPHA:100070	Progressive non-fluent aphasia	HP:0040283 - Occasional	241
HP:0002427	HP:0002427	Expressive aphasia	0	TMEM106B CL E G H	54664	22407	ORPHA:100070	Progressive non-fluent aphasia	HP:0040283 - Occasional
HP:0002427	HP:0002427	Expressive aphasia	0	TREM2 CL E G H	54209	17761	ORPHA:100070	Progressive non-fluent aphasia	HP:0040283 - Occasional	31
HP:0002427	HP:0002427	Expressive aphasia	0	VCP CL E G H	7415	12666	ORPHA:100070	Progressive non-fluent aphasia	HP:0040283 - Occasional	63

Genes (13) :C9ORF72 CHMP2B DEPDC5 FA2H GJB1 GRN MAPT NPRL2 NPRL3 PSEN1 TMEM106B TREM2 VCP

Diseases (4) :ORPHA:100070 ORPHA:98820 ORPHA:329308 OMIM:302800

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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