Human Phenotype Ontology

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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 facial expression (HP:0005346)

Parent Node:
Disturbance of facial expression (HP:0005324)

..Starting node
..Facial grimacing (HP:0000273)

Term ID:

273

Name:

Facial grimacing

Synonym:

Facial grimacing

Definition:

Comments:

Reference:

HP:0000273

Genes and Diseases:

Child Nodes:

Sister Nodes:

Facial tics (HP:0011468)

Risus sardonicus (HP:0040212)

Sleepy facial expression (HP:0005335)

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:0000273	HP:0000273	Facial grimacing	0	ALDH7A1 CL E G H	501	877	ORPHA:3006	Pyridoxine-dependent epilepsy	HP:0040283 - Occasional	227
HP:0000273	HP:0000273	Facial grimacing	0	ATXN8 CL E G H	724066	32925	ORPHA:98760	Spinocerebellar ataxia type 8	HP:0040283 - Occasional	1
HP:0000273	HP:0000273	Facial grimacing	0	ATXN8OS CL E G H	6315	10561	ORPHA:98760	Spinocerebellar ataxia type 8	HP:0040283 - Occasional	1
HP:0000273	HP:0000273	Facial grimacing	0	CP CL E G H	1356	2295	ORPHA:48818	Aceruloplasminemia	HP:0040283 - Occasional	115
HP:0000273	HP:0000273	Facial grimacing	0	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1		291
HP:0000273	HP:0000273	Facial grimacing	0	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations	HP:0040281 - Very frequent	291
HP:0000273	HP:0000273	Facial grimacing	0	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1		250
HP:0000273	HP:0000273	Facial grimacing	0	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	HP:0040281 - Very frequent	250
HP:0000273	HP:0000273	Facial grimacing	0	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:0000273	HP:0000273	Facial grimacing	0	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome	HP:0040283 - Occasional	270
HP:0000273	HP:0000273	Facial grimacing	0	LRIG2 CL E G H	9860	20889	OMIM:615112	Urofacial syndrome 2		5
HP:0000273	HP:0000273	Facial grimacing	0	PANK2 CL E G H	80025	15894	OMIM:234200	Neurodegeneration with brain iron accumulation 1	.	55
HP:0000273	HP:0000273	Facial grimacing	0	PDE2A CL E G H	5138	8777	OMIM:619150	INTELLECTUAL DEVELOPMENTAL DISORDER WITH PAROXYSMAL DYSKINESIA OR SEIZURES; IDDPADS
HP:0000273	HP:0000273	Facial grimacing	0	PLPBP CL E G H	11212	9457	ORPHA:3006	Pyridoxine-dependent epilepsy	HP:0040283 - Occasional	6
HP:0000273	HP:0000273	Facial grimacing	0	PNKD CL E G H	25953	9153	OMIM:118800	Paroxysmal nonkinesigenic dyskinesia 1	.	66

Genes (13) :ALDH7A1 ATXN8 ATXN8OS CP CREBBP EP300 GATAD2B GLI3 LRIG2 PANK2 PDE2A PLPBP PNKD

Diseases (12) :ORPHA:3006 ORPHA:98760 ORPHA:48818 OMIM:180849 ORPHA:353277 ORPHA:353284 ORPHA:363686 ORPHA:672 OMIM:615112 OMIM:234200 OMIM:619150 OMIM:118800

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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