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)

Mood swings (HP:0000720)

obsolete Mood changes (HP:0001575)

Suicidal ideation (HP:0031589)

Unhappy demeanor (HP:0031588)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0030213	HP:0030213	Emotional blunting	0	C9orf72 CL E G H	203228	275864				ORPHA	1	177	28337	614260
HP:0030213	HP:0030213	Emotional blunting	0	CHMP2B CL E G H	25978	275864				ORPHA	1	160	24537	609512
HP:0030213	HP:0030213	Emotional blunting	0	GRN CL E G H	2896	275864				ORPHA	1	594	4601	138945
HP:0030213	HP:0030213	Emotional blunting	0	MAPT CL E G H	4137	275864				ORPHA	1	581	6893	157140
HP:0030213	HP:0030213	Emotional blunting	0	MAPT CL E G H	4137	172700	Pick's disease	172700	C0236642	OMIM	1	581	6893	157140
HP:0030213	HP:0030213	Emotional blunting	0	PSEN1 CL E G H	5663	275864				ORPHA	1	501	9508	104311
HP:0030213	HP:0030213	Emotional blunting	0	PSEN1 CL E G H	5663	172700	Pick's disease	172700	C0236642	OMIM	1	501	9508	104311
HP:0030213	HP:0030213	Emotional blunting	0	SQSTM1 CL E G H	8878	275864				ORPHA	1	677	11280	601530
HP:0030213	HP:0030213	Emotional blunting	0	TMEM106B CL E G H	54664	275864				ORPHA	1	128	22407	613413
HP:0030213	HP:0030213	Emotional blunting	0	TREM2 CL E G H	54209	275864				ORPHA	1	154	17761	605086
HP:0030213	HP:0030213	Emotional blunting	0	VCP CL E G H	7415	275864				ORPHA	1	607	12666	601023
HPO disease - gene - phenotype less frequent non-typical associations:

Genes (10) :C9ORF72 C9orf72 CHMP2B GRN MAPT PSEN1 SQSTM1 TMEM106B TREM2 VCP

Diseases (2) :275864 172700

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.