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:
Behavioral abnormality (HP:0000708)

Parent Node:
Abnormal emotion/affect behavior (HP:0100851)

..Starting node
..Emotional blunting (HP:0030213)

Term ID:

30213

Name:

Emotional blunting

Synonym:

Definition:

Lack of emotional reactivity and empathy for situations or persons, sometime also for family members.

Comments:

Reference:

HP:0030213

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal aggressive, impulsive or violent behavior (HP:0006919)

Conspicuously happy disposition (HP:0100024)

Diminished motivation (HP:0000745)

Euphoria (HP:0031844)

Happy demeanor (HP:0040082)

Irritability (HP:0000737)

obsolete Mood changes (HP:0001575)

obsolete Mood swings (HP:0000720)

Suicidal ideation (HP:0031589)

Unhappy demeanor (HP:0031588)

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:0030213	HP:0030213	Emotional blunting	0	C9ORF72 CL E G H	203228	28337	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent	56
HP:0030213	HP:0030213	Emotional blunting	0	CHMP2B CL E G H	25978	24537	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent	42
HP:0030213	HP:0030213	Emotional blunting	0	DPAGT1 CL E G H	1798	2995	ORPHA:86309	DPAGT1-CDG	HP:0040283 - Occasional	38
HP:0030213	HP:0030213	Emotional blunting	0	GRN CL E G H	2896	4601	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent	126
HP:0030213	HP:0030213	Emotional blunting	0	MAPT CL E G H	4137	6893	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent	140
HP:0030213	HP:0030213	Emotional blunting	0	MAPT CL E G H	4137	6893	OMIM:172700	Pick disease of brain	.	140
HP:0030213	HP:0030213	Emotional blunting	0	PSEN1 CL E G H	5663	9508	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent	241
HP:0030213	HP:0030213	Emotional blunting	0	PSEN1 CL E G H	5663	9508	OMIM:172700	Pick disease of brain	.	241
HP:0030213	HP:0030213	Emotional blunting	0	SQSTM1 CL E G H	8878	11280	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent	62
HP:0030213	HP:0030213	Emotional blunting	0	TMEM106B CL E G H	54664	22407	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent
HP:0030213	HP:0030213	Emotional blunting	0	TREM2 CL E G H	54209	17761	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent	31
HP:0030213	HP:0030213	Emotional blunting	0	VCP CL E G H	7415	12666	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent	63

Genes (10) :C9ORF72 CHMP2B DPAGT1 GRN MAPT PSEN1 SQSTM1 TMEM106B TREM2 VCP

Diseases (3) :ORPHA:275864 ORPHA:86309 OMIM:172700

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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