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:
Abnormal emotion/affect behavior (HP:0100851)

Parent Node:
Diminished motivation (HP:0000745)

..Starting node
..Abulia (HP:0012671)

Term ID:

12671

Name:

Abulia

Synonym:

Aboulia

Definition:

Poverty of behavior and speech output, lack of initiative, loss of emotional responses, psychomotor slowing, and prolonged speech latency.

Comments:

Reference:

HP:0012671

Genes and Diseases:

Child Nodes:

Sister Nodes:

Akinetic mutism (HP:0012672)

Apathy (HP:0000741)

Inertia (HP:0030216)

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:0012671	HP:0012671	Abulia	0	C9ORF72 CL E G H	203228	28337	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040283 - Occasional	56
HP:0012671	HP:0012671	Abulia	0	C9ORF72 CL E G H	203228	28337	ORPHA:100069	Semantic dementia	HP:0040282 - Frequent	56
HP:0012671	HP:0012671	Abulia	0	CHMP2B CL E G H	25978	24537	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040283 - Occasional	42
HP:0012671	HP:0012671	Abulia	0	CHMP2B CL E G H	25978	24537	ORPHA:100069	Semantic dementia	HP:0040282 - Frequent	42
HP:0012671	HP:0012671	Abulia	0	GRN CL E G H	2896	4601	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040283 - Occasional	126
HP:0012671	HP:0012671	Abulia	0	GRN CL E G H	2896	4601	ORPHA:100069	Semantic dementia	HP:0040282 - Frequent	126
HP:0012671	HP:0012671	Abulia	0	HTRA1 CL E G H	5654	9476	ORPHA:199354	Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy		34
HP:0012671	HP:0012671	Abulia	0	MAPT CL E G H	4137	6893	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040283 - Occasional	140
HP:0012671	HP:0012671	Abulia	0	MAPT CL E G H	4137	6893	ORPHA:100069	Semantic dementia	HP:0040282 - Frequent	140
HP:0012671	HP:0012671	Abulia	0	NOTCH3 CL E G H	4854	7883	OMIM:125310	Cerebral arteriopathy, autosomal dominant, with subcortical infarctsand leukoencephalopathy		144
HP:0012671	HP:0012671	Abulia	0	PSEN1 CL E G H	5663	9508	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040283 - Occasional	241
HP:0012671	HP:0012671	Abulia	0	PSEN1 CL E G H	5663	9508	ORPHA:100069	Semantic dementia	HP:0040282 - Frequent	241
HP:0012671	HP:0012671	Abulia	0	SQSTM1 CL E G H	8878	11280	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040283 - Occasional	62
HP:0012671	HP:0012671	Abulia	0	TMEM106B CL E G H	54664	22407	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040283 - Occasional
HP:0012671	HP:0012671	Abulia	0	TMEM106B CL E G H	54664	22407	ORPHA:100069	Semantic dementia	HP:0040282 - Frequent
HP:0012671	HP:0012671	Abulia	0	TREM2 CL E G H	54209	17761	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040283 - Occasional	31
HP:0012671	HP:0012671	Abulia	0	TREM2 CL E G H	54209	17761	ORPHA:100069	Semantic dementia	HP:0040282 - Frequent	31
HP:0012671	HP:0012671	Abulia	0	VCP CL E G H	7415	12666	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040283 - Occasional	63

Genes (11) :C9ORF72 CHMP2B GRN HTRA1 MAPT NOTCH3 PSEN1 SQSTM1 TMEM106B TREM2 VCP

Diseases (4) :ORPHA:275864 ORPHA:100069 ORPHA:199354 OMIM:125310

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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