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 the face (HP:0000271)

Parent Node:
Abnormal facial expression (HP:0005346)

..Starting node
..Disturbance of facial expression (HP:0005324)

Term ID:

5324

Name:

Disturbance of facial expression

Synonym:

Disturbance of facial expression

Definition:

An abnormality of the gestures or movements executed with the facial muscles with which emotions such as fear, joy, sadness, surprise, and disgust can be expressed.

Comments:

Reference:

HP:0005324

Genes and Diseases:

Child Nodes:

........

Facial grimacing (HP:0000273)

........

Sleepy facial expression (HP:0005335)

........

Facial tics (HP:0011468)

........

Risus sardonicus (HP:0040212)

Sister Nodes:

Decreased facial expression (HP:0004673)

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:0005324	HP:0005324	Disturbance of facial expression	0	ALDH7A1 CL E G H	501	877	ORPHA:3006	Pyridoxine-dependent epilepsy		227
HP:0005324	HP:0005324	Disturbance of facial expression	0	ATP1A2 CL E G H	477	800	ORPHA:569	Familial or sporadic hemiplegic migraine		239
HP:0005324	HP:0005324	Disturbance of facial expression	0	ATXN8 CL E G H	724066	32925	ORPHA:98760	Spinocerebellar ataxia type 8		1
HP:0005324	HP:0005324	Disturbance of facial expression	0	ATXN8OS CL E G H	6315	10561	ORPHA:98760	Spinocerebellar ataxia type 8		1
HP:0005324	HP:0005324	Disturbance of facial expression	0	CACNA1A CL E G H	773	1388	ORPHA:569	Familial or sporadic hemiplegic migraine		449
HP:0005324	HP:0005324	Disturbance of facial expression	0	CP CL E G H	1356	2295	ORPHA:48818	Aceruloplasminemia		115
HP:0005324	HP:0005324	Disturbance of facial expression	0	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1		291
HP:0005324	HP:0005324	Disturbance of facial expression	0	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations		291
HP:0005324	HP:0005324	Disturbance of facial expression	0	DNM2 CL E G H	1785	2974	OMIM:160150	Myopathy, centronuclear, autosomal dominant		167
HP:0005324	HP:0005324	Disturbance of facial expression	0	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1		250
HP:0005324	HP:0005324	Disturbance of facial expression	0	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency		250
HP:0005324	HP:0005324	Disturbance of facial expression	0	GABRA1 CL E G H	2554	4075	ORPHA:33069	Dravet syndrome		134
HP:0005324	HP:0005324	Disturbance of facial expression	0	GABRG2 CL E G H	2566	4087	ORPHA:33069	Dravet syndrome		139
HP:0005324	HP:0005324	Disturbance of facial expression	0	GATAD2B CL E G H	57459	30778	ORPHA:363686	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome		33
HP:0005324	HP:0005324	Disturbance of facial expression	0	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome		270
HP:0005324	HP:0005324	Disturbance of facial expression	0	IRF6 CL E G H	3664	6121	ORPHA:141291	Cleft lip and alveolus	HP:0040282 - Frequent	99
HP:0005324	HP:0005324	Disturbance of facial expression	0	KCNQ2 CL E G H	3785	6296	ORPHA:1949	Benign familial neonatal epilepsy		528
HP:0005324	HP:0005324	Disturbance of facial expression	0	KCNQ3 CL E G H	3786	6297	ORPHA:1949	Benign familial neonatal epilepsy		302
HP:0005324	HP:0005324	Disturbance of facial expression	0	LRIG2 CL E G H	9860	20889	OMIM:615112	Urofacial syndrome 2		5
HP:0005324	HP:0005324	Disturbance of facial expression	0	MECP2 CL E G H	4204	6990	OMIM:300496	Autism susceptibility, X-linked 3	.	950
HP:0005324	HP:0005324	Disturbance of facial expression	0	MSX1 CL E G H	4487	7391	ORPHA:141291	Cleft lip and alveolus	HP:0040282 - Frequent	12
HP:0005324	HP:0005324	Disturbance of facial expression	0	MTMR14 CL E G H	64419	26190	OMIM:160150	Myopathy, centronuclear, autosomal dominant		7
HP:0005324	HP:0005324	Disturbance of facial expression	0	NECTIN1 CL E G H	5818	9706	ORPHA:141291	Cleft lip and alveolus	HP:0040282 - Frequent	4
HP:0005324	HP:0005324	Disturbance of facial expression	0	PANK2 CL E G H	80025	15894	OMIM:234200	Neurodegeneration with brain iron accumulation 1		55
HP:0005324	HP:0005324	Disturbance of facial expression	0	PCDH19 CL E G H	57526	14270	ORPHA:33069	Dravet syndrome		225
HP:0005324	HP:0005324	Disturbance of facial expression	0	PDE2A CL E G H	5138	8777	OMIM:619150	INTELLECTUAL DEVELOPMENTAL DISORDER WITH PAROXYSMAL DYSKINESIA OR SEIZURES; IDDPADS
HP:0005324	HP:0005324	Disturbance of facial expression	0	PLA2G6 CL E G H	8398	9039	OMIM:612953	Parkinson disease 14, autosomal recessive		133
HP:0005324	HP:0005324	Disturbance of facial expression	0	PLPBP CL E G H	11212	9457	ORPHA:3006	Pyridoxine-dependent epilepsy		6
HP:0005324	HP:0005324	Disturbance of facial expression	0	PMP22 CL E G H	5376	9118	ORPHA:98916	Acute inflammatory demyelinating polyradiculoneuropathy		79
HP:0005324	HP:0005324	Disturbance of facial expression	0	PNKD CL E G H	25953	9153	OMIM:118800	Paroxysmal nonkinesigenic dyskinesia 1		66
HP:0005324	HP:0005324	Disturbance of facial expression	0	PNPT1 CL E G H	87178	23166	OMIM:608703	Spinocerebellar ataxia 25		60
HP:0005324	HP:0005324	Disturbance of facial expression	0	PNPT1 CL E G H	87178	23166	ORPHA:101111	Spinocerebellar ataxia type 25		60
HP:0005324	HP:0005324	Disturbance of facial expression	0	PRRT2 CL E G H	112476	30500	ORPHA:569	Familial or sporadic hemiplegic migraine		94
HP:0005324	HP:0005324	Disturbance of facial expression	0	SCN1A CL E G H	6323	10585	ORPHA:33069	Dravet syndrome		1053
HP:0005324	HP:0005324	Disturbance of facial expression	0	SCN1A CL E G H	6323	10585	ORPHA:569	Familial or sporadic hemiplegic migraine		1053
HP:0005324	HP:0005324	Disturbance of facial expression	0	SCN1B CL E G H	6324	10586	ORPHA:33069	Dravet syndrome		126
HP:0005324	HP:0005324	Disturbance of facial expression	0	SCN2A CL E G H	6326	10588	ORPHA:33069	Dravet syndrome		427
HP:0005324	HP:0005324	Disturbance of facial expression	0	SCN9A CL E G H	6335	10597	ORPHA:33069	Dravet syndrome		318
HP:0005324	HP:0005324	Disturbance of facial expression	0	TP63 CL E G H	8626	15979	ORPHA:141291	Cleft lip and alveolus	HP:0040282 - Frequent	140
HP:0005324	HP:0040212	Risus sardonicus	1	CL E G H
HP:0005324	HP:0000273	Facial grimacing	1	ALDH7A1 CL E G H	501	877	ORPHA:3006	Pyridoxine-dependent epilepsy	HP:0040283 - Occasional	227
HP:0005324	HP:0011468	Facial tics	1	ATP1A2 CL E G H	477	800	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040282 - Frequent	239
HP:0005324	HP:0000273	Facial grimacing	1	ATXN8 CL E G H	724066	32925	ORPHA:98760	Spinocerebellar ataxia type 8	HP:0040283 - Occasional	1
HP:0005324	HP:0000273	Facial grimacing	1	ATXN8OS CL E G H	6315	10561	ORPHA:98760	Spinocerebellar ataxia type 8	HP:0040283 - Occasional	1
HP:0005324	HP:0011468	Facial tics	1	CACNA1A CL E G H	773	1388	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040282 - Frequent	449
HP:0005324	HP:0000273	Facial grimacing	1	CP CL E G H	1356	2295	ORPHA:48818	Aceruloplasminemia	HP:0040283 - Occasional	115
HP:0005324	HP:0000273	Facial grimacing	1	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1		291
HP:0005324	HP:0000273	Facial grimacing	1	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations	HP:0040281 - Very frequent	291
HP:0005324	HP:0005335	Sleepy facial expression	1	DNM2 CL E G H	1785	2974	OMIM:160150	Myopathy, centronuclear, autosomal dominant	.	167
HP:0005324	HP:0000273	Facial grimacing	1	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1		250
HP:0005324	HP:0000273	Facial grimacing	1	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	HP:0040281 - Very frequent	250
HP:0005324	HP:0011468	Facial tics	1	GABRA1 CL E G H	2554	4075	ORPHA:33069	Dravet syndrome	HP:0040282 - Frequent	134
HP:0005324	HP:0011468	Facial tics	1	GABRG2 CL E G H	2566	4087	ORPHA:33069	Dravet syndrome	HP:0040282 - Frequent	139
HP:0005324	HP:0000273	Facial grimacing	1	GATAD2B CL E G H	57459	30778	ORPHA:363686	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome	HP:0040282 - Frequent	33
HP:0005324	HP:0000273	Facial grimacing	1	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome	HP:0040283 - Occasional	270
HP:0005324	HP:0011468	Facial tics	1	KCNQ2 CL E G H	3785	6296	ORPHA:1949	Benign familial neonatal epilepsy	HP:0040283 - Occasional	528
HP:0005324	HP:0011468	Facial tics	1	KCNQ3 CL E G H	3786	6297	ORPHA:1949	Benign familial neonatal epilepsy	HP:0040283 - Occasional	302
HP:0005324	HP:0000273	Facial grimacing	1	LRIG2 CL E G H	9860	20889	OMIM:615112	Urofacial syndrome 2		5
HP:0005324	HP:0005335	Sleepy facial expression	1	MTMR14 CL E G H	64419	26190	OMIM:160150	Myopathy, centronuclear, autosomal dominant	.	7
HP:0005324	HP:0000273	Facial grimacing	1	PANK2 CL E G H	80025	15894	OMIM:234200	Neurodegeneration with brain iron accumulation 1	.	55
HP:0005324	HP:0011468	Facial tics	1	PCDH19 CL E G H	57526	14270	ORPHA:33069	Dravet syndrome	HP:0040282 - Frequent	225
HP:0005324	HP:0000273	Facial grimacing	1	PDE2A CL E G H	5138	8777	OMIM:619150	INTELLECTUAL DEVELOPMENTAL DISORDER WITH PAROXYSMAL DYSKINESIA OR SEIZURES; IDDPADS
HP:0005324	HP:0011468	Facial tics	1	PLA2G6 CL E G H	8398	9039	OMIM:612953	Parkinson disease 14, autosomal recessive		133
HP:0005324	HP:0000273	Facial grimacing	1	PLPBP CL E G H	11212	9457	ORPHA:3006	Pyridoxine-dependent epilepsy	HP:0040283 - Occasional	6
HP:0005324	HP:0005335	Sleepy facial expression	1	PMP22 CL E G H	5376	9118	ORPHA:98916	Acute inflammatory demyelinating polyradiculoneuropathy	HP:0040282 - Frequent	79
HP:0005324	HP:0000273	Facial grimacing	1	PNKD CL E G H	25953	9153	OMIM:118800	Paroxysmal nonkinesigenic dyskinesia 1	.	66
HP:0005324	HP:0011468	Facial tics	1	PNPT1 CL E G H	87178	23166	OMIM:608703	Spinocerebellar ataxia 25	.	60
HP:0005324	HP:0011468	Facial tics	1	PNPT1 CL E G H	87178	23166	ORPHA:101111	Spinocerebellar ataxia type 25	HP:0040282 - Frequent	60
HP:0005324	HP:0011468	Facial tics	1	PRRT2 CL E G H	112476	30500	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040282 - Frequent	94
HP:0005324	HP:0011468	Facial tics	1	SCN1A CL E G H	6323	10585	ORPHA:33069	Dravet syndrome	HP:0040282 - Frequent	1053
HP:0005324	HP:0011468	Facial tics	1	SCN1A CL E G H	6323	10585	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040282 - Frequent	1053
HP:0005324	HP:0011468	Facial tics	1	SCN1B CL E G H	6324	10586	ORPHA:33069	Dravet syndrome	HP:0040282 - Frequent	126
HP:0005324	HP:0011468	Facial tics	1	SCN2A CL E G H	6326	10588	ORPHA:33069	Dravet syndrome	HP:0040282 - Frequent	427
HP:0005324	HP:0011468	Facial tics	1	SCN9A CL E G H	6335	10597	ORPHA:33069	Dravet syndrome	HP:0040282 - Frequent	318

Genes (35) :ALDH7A1 ATP1A2 ATXN8 ATXN8OS CACNA1A CP CREBBP DNM2 EP300 GABRA1 GABRG2 GATAD2B GLI3 IRF6 KCNQ2 KCNQ3 LRIG2 MECP2 MSX1 MTMR14 NECTIN1 PANK2 PCDH19 PDE2A PLA2G6 PLPBP PMP22 PNKD PNPT1 PRRT2 SCN1A SCN1B SCN2A SCN9A TP63

Diseases (22) :ORPHA:3006 ORPHA:569 ORPHA:98760 ORPHA:48818 OMIM:180849 ORPHA:353277 OMIM:160150 ORPHA:353284 ORPHA:33069 ORPHA:363686 ORPHA:672 ORPHA:141291 ORPHA:1949 OMIM:615112 OMIM:300496 OMIM:234200 OMIM:619150 OMIM:612953 ORPHA:98916 OMIM:118800 OMIM:608703 ORPHA:101111

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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