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
..Anomic aphasia (HP:0030784)

Term ID:

30784

Name:

Anomic aphasia

Synonym:

Amnesic aphasia; Amnestic aphasia; Anomia; Nominal aphasia; Word-finding difficulty

Definition:

An inability to name people and objects that are correctly perceived. The individual is able to describe the object in question, but cannot provide the name.

Comments:

Reference:

HP:0030784

Genes and Diseases:

Child Nodes:

Sister Nodes:

Absent speech (HP:0001344)

Alexia (HP:0010523)

Anarthria (HP:0002425)

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:0030784	HP:0030784	Anomic aphasia	0	C9ORF72 CL E G H	203228	28337	ORPHA:100069	Semantic dementia	HP:0040281 - Very frequent	56
HP:0030784	HP:0030784	Anomic aphasia	0	CHMP2B CL E G H	25978	24537	ORPHA:100069	Semantic dementia	HP:0040281 - Very frequent	42
HP:0030784	HP:0030784	Anomic aphasia	0	GRN CL E G H	2896	4601	ORPHA:100069	Semantic dementia	HP:0040281 - Very frequent	126
HP:0030784	HP:0030784	Anomic aphasia	0	MAPT CL E G H	4137	6893	ORPHA:240112	Progressive supranuclear palsy-progressive non-fluent aphasia syndrome	HP:0040281 - Very frequent	140
HP:0030784	HP:0030784	Anomic aphasia	0	MAPT CL E G H	4137	6893	ORPHA:100069	Semantic dementia	HP:0040281 - Very frequent	140
HP:0030784	HP:0030784	Anomic aphasia	0	PLP1 CL E G H	5354	9086	ORPHA:280229	Pelizaeus-Merzbacher disease in female carriers	HP:0040283 - Occasional	60
HP:0030784	HP:0030784	Anomic aphasia	0	PSEN1 CL E G H	5663	9508	ORPHA:100069	Semantic dementia	HP:0040281 - Very frequent	241
HP:0030784	HP:0030784	Anomic aphasia	0	TMEM106B CL E G H	54664	22407	ORPHA:100069	Semantic dementia	HP:0040281 - Very frequent
HP:0030784	HP:0030784	Anomic aphasia	0	TREM2 CL E G H	54209	17761	ORPHA:100069	Semantic dementia	HP:0040281 - Very frequent	31

Genes (8) :C9ORF72 CHMP2B GRN MAPT PLP1 PSEN1 TMEM106B TREM2

Diseases (3) :ORPHA:100069 ORPHA:240112 ORPHA:280229

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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