Human Phenotype Ontology

About
MSeqDR-LSDB
Tools
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- Quick-Mitome
- Quick-Mitome-Report
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome
- Disease Portal
- HPO Ontology Browser
- Core Symptoms (draft)
- NAMDC-HPO Mapping (retired)
- Expert Panel
- Clinical
- Overview
- Leigh Syndrome Resource
Collaboration
Submission

Hello! Guest! Please Login or Register! Clinician Mode

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
..Apathy (HP:0000741)

Term ID:

741

Name:

Apathy

Synonym:

Lack of feeling, emotion, interest

Definition:

Comments:

Reference:

HP:0000741

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abulia (HP:0012671)

Akinetic mutism (HP:0012672)

Inertia (HP:0030216)

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:0000741	HP:0000741	Apathy	0	C9orf72 CL E G H	203228	275872				ORPHA	1	173	28337	614260
HP:0000741	HP:0000741	Apathy	0	C9orf72 CL E G H	203228	105550	Amyotrophic lateral sclerosis and/or frontotemporal dementia 1	105550	C1862937	OMIM	1	173	28337	614260
HP:0000741	HP:0000741	Apathy	0	CACNA1A CL E G H	773	71518				ORPHA	1	2689	1388	601011
HP:0000741	HP:0000741	Apathy	0	CHCHD10 CL E G H	400916	275872				ORPHA	1	248	15559	615903
HP:0000741	HP:0000741	Apathy	0	CHMP2B CL E G H	25978	600795	Frontotemporal Dementia, Chromosome 3-Linked	600795	C1833296	OMIM	1	141	24537	609512
HP:0000741	HP:0000741	Apathy	0	COQ2 CL E G H	27235	98933				ORPHA	1	205	25223	609825
HP:0000741	HP:0000741	Apathy	0	DCTN1 CL E G H	1639	178509				ORPHA	1	858	2711	601143
HP:0000741	HP:0000741	Apathy	0	DCTN1 CL E G H	1639	168605	Perry syndrome	168605	C1868594	OMIM	1	858	2711	601143
HP:0000741	HP:0000741	Apathy	0	DNMT1 CL E G H	1786	614116	Hereditary sensory neuropathy type IE	614116	C3279885	OMIM	1	995	2976	126375
HP:0000741	HP:0000741	Apathy	0	FUS CL E G H	2521	275872				ORPHA	1	409	4010	137070
HP:0000741	HP:0000741	Apathy	0	GBA CL E G H	2629	608013	Gaucher disease, perinatal lethal	608013	C1842704	OMIM	1		4177	606463
HP:0000741	HP:0000741	Apathy	0	GM2A CL E G H	2760	272750	Tay-Sachs disease, variant AB	272750	C0268275	OMIM	1	166	4367	613109
HP:0000741	HP:0000741	Apathy	0	GRN CL E G H	2896	607485	Frontotemporal dementia, ubiquitin-positive	607485	C1843792	OMIM	1	417	4601	138945
HP:0000741	HP:0000741	Apathy	0	HEXA CL E G H	3073	272800	Tay-Sachs disease	272800	C0039373	OMIM	1	770	4878	606869
HP:0000741	HP:0000741	Apathy	0	HMGCL CL E G H	3155	246450	Deficiency of hydroxymethylglutaryl-CoA lyase	246450	C0268601	OMIM	1	327	5005	613898
HP:0000741	HP:0000741	Apathy	0	JPH3 CL E G H	57338	606438	Huntington disease-like 2	606438	C1847987	OMIM	1	125	14203	605268
HP:0000741	HP:0000741	Apathy	0	MAPT CL E G H	4137	600274	Frontotemporal dementia	600274	C0338451	OMIM	1	514	6893	157140
HP:0000741	HP:0000741	Apathy	0	MAPT CL E G H	4137	172700	Pick's disease	172700	C0236642	OMIM	1	514	6893	157140
HP:0000741	HP:0000741	Apathy	0	MAPT CL E G H	4137	601104	Progressive supranuclear ophthalmoplegia	601104	C0038868	OMIM	1	514	6893	157140
HP:0000741	HP:0000741	Apathy	0	PDGFB CL E G H	5155	615483	Idiopathic basal ganglia calcification 5	615483	C3809645	OMIM	1	105	8800	190040
HP:0000741	HP:0000741	Apathy	0	PRKAR1B CL E G H	5575	412066				ORPHA	1	188	9390	176911
HP:0000741	HP:0000741	Apathy	0	PRNP CL E G H	5621	282166				ORPHA	1	164	9449	176640
HP:0000741	HP:0000741	Apathy	0	PRNP CL E G H	5621	123400	Jakob-Creutzfeldt disease	123400	C0022336	OMIM	1	164	9449	176640
HP:0000741	HP:0000741	Apathy	0	PSEN1 CL E G H	5663	600274	Frontotemporal dementia	600274	C0338451	OMIM	1	452	9508	104311
HP:0000741	HP:0000741	Apathy	0	PSEN1 CL E G H	5663	172700	Pick's disease	172700	C0236642	OMIM	1	452	9508	104311
HP:0000741	HP:0000741	Apathy	0	SMARCB1 CL E G H	6598	99966				ORPHA	1	901	11103	601607
HP:0000741	HP:0000741	Apathy	0	SPAST CL E G H	6683	182601	Spastic paraplegia 4, autosomal dominant	182601	C1866855	OMIM	1	1014	11233	604277
HP:0000741	HP:0000741	Apathy	0	SQSTM1 CL E G H	8878	275872				ORPHA	1	542	11280	601530
HP:0000741	HP:0000741	Apathy	0	SQSTM1 CL E G H	8878	616437	Frontotemporal dementia and/or amyotrophic lateral sclerosis 3	616437	C4225326	OMIM	1	542	11280	601530
HP:0000741	HP:0000741	Apathy	0	TARDBP CL E G H	23435	275872				ORPHA	1	259	11571	605078
HP:0000741	HP:0000741	Apathy	0	TARDBP CL E G H	23435	612069	Amyotrophic lateral sclerosis type 10	612069	C2677565	OMIM	1	259	11571	605078
HP:0000741	HP:0000741	Apathy	0	TBK1 CL E G H	29110	275872				ORPHA	1	294	11584	604834
HP:0000741	HP:0000741	Apathy	0	TBK1 CL E G H	29110	616439	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	616439	C4225325	OMIM	1	294	11584	604834
HP:0000741	HP:0000741	Apathy	0	TMEM240 CL E G H	339453	607454	Spinocerebellar ataxia 21	607454	C1843891	OMIM	1	192	25186	616101
HP:0000741	HP:0000741	Apathy	0	VCP CL E G H	7415	275872				ORPHA	1	473	12666	601023
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000741	HP:0000741	Apathy	0	ATP13A2 CL E G H	23400	306674				ORPHA	0	738	30213	610513
HP:0000741	HP:0000741	Apathy	0	ATXN10 CL E G H	25814	98761				ORPHA	0	108	10549	611150
HP:0000741	HP:0000741	Apathy	0	C9orf72 CL E G H	203228	275864				ORPHA	0	173	28337	614260
HP:0000741	HP:0000741	Apathy	0	CHMP2B CL E G H	25978	275864				ORPHA	0	141	24537	609512
HP:0000741	HP:0000741	Apathy	0	COQ2 CL E G H	27235	227510				ORPHA	0	205	25223	609825
HP:0000741	HP:0000741	Apathy	0	DNAJC13 CL E G H	23317	411602				ORPHA	0	165	30343	614334
HP:0000741	HP:0000741	Apathy	0	EHMT1 CL E G H	79813	96147				ORPHA	0	1570	24650	607001
HP:0000741	HP:0000741	Apathy	0	EHMT1 CL E G H	79813	610253	Chromosome 9q deletion syndrome	610253	C0795833	OMIM	0	1570	24650	607001
HP:0000741	HP:0000741	Apathy	0	EIF4G1 CL E G H	1981	411602				ORPHA	0	94	3296	600495
HP:0000741	HP:0000741	Apathy	0	GBA CL E G H	2629	411602				ORPHA	0		4177	606463
HP:0000741	HP:0000741	Apathy	0	GIGYF2 CL E G H	26058	411602				ORPHA	0	255	11960	612003
HP:0000741	HP:0000741	Apathy	0	GRN CL E G H	2896	275864				ORPHA	0	417	4601	138945
HP:0000741	HP:0000741	Apathy	0	LRRK2 CL E G H	120892	411602				ORPHA	0	2226	18618	609007
HP:0000741	HP:0000741	Apathy	0	MAPT CL E G H	4137	275864				ORPHA	0	514	6893	157140
HP:0000741	HP:0000741	Apathy	0	PSEN1 CL E G H	5663	275864				ORPHA	0	452	9508	104311
HP:0000741	HP:0000741	Apathy	0	SNCA CL E G H	6622	411602				ORPHA	0	177	11138	163890
HP:0000741	HP:0000741	Apathy	0	SQSTM1 CL E G H	8878	275864				ORPHA	0	542	11280	601530
HP:0000741	HP:0000741	Apathy	0	TMEM106B CL E G H	54664	275864				ORPHA	0	87	22407	613413
HP:0000741	HP:0000741	Apathy	0	TREM2 CL E G H	54209	275864				ORPHA	0	110	17761	605086
HP:0000741	HP:0000741	Apathy	0	VCP CL E G H	7415	275864				ORPHA	0	473	12666	601023
HP:0000741	HP:0000741	Apathy	0	VPS35 CL E G H	55737	411602				ORPHA	0	184	13487	601501

Genes (38) :ATP13A2 ATXN10 C9ORF72 C9orf72 CACNA1A CHCHD10 CHMP2B COQ2 DCTN1 DNAJC13 DNMT1 EHMT1 EIF4G1 FUS GBA GIGYF2 GM2A GRN HEXA HMGCL JPH3 LRRK2 MAPT PDGFB PRKAR1B PRNP PSEN1 SMARCB1 SNCA SPAST SQSTM1 TARDBP TBK1 TMEM106B TMEM240 TREM2 VCP VPS35

Diseases (34) :306674 98761 275872 275864 105550 71518 600795 98933 227510 178509 168605 411602 614116 96147 610253 608013 272750 607485 272800 246450 606438 600274 172700 601104 615483 412066 282166 123400 99966 182601 616437 612069 616439 607454

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

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen