Human Phenotype Ontology

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

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:
Decreased facial expression (HP:0004673)

..Starting node
..Mask-like facies (HP:0000298)

Term ID:

298

Name:

Mask-like facies

Synonym:

Amimia; Expressionless face; Lack of facial expression; Mask-like facial appearance; Masklike facies

Definition:

A lack of facial expression often with staring eyes and a slightly open mouth.

Comments:

Reference:

HP:0000298

Genes and Diseases:

Child Nodes:

Sister Nodes:

Fixed facial expression (HP:0005329)

Hypomimic face (HP:0000338)

Loss of facial expression (HP:0005327)

Myopathic facies (HP:0002058)

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:0000298	HP:0000298	Mask-like facies	0	ACTA1 CL E G H	58	129	OMIM:161800	Nemaline myopathy 3	.	96
HP:0000298	HP:0000298	Mask-like facies	0	ADH1C CL E G H	126	251	OMIM:168600	Parkinson disease, late-onset	.	4
HP:0000298	HP:0000298	Mask-like facies	0	ATP13A2 CL E G H	23400	30213	OMIM:606693	Kufor-Rakeb syndrome		100
HP:0000298	HP:0000298	Mask-like facies	0	ATP6AP2 CL E G H	10159	18305	ORPHA:363654	X-linked parkinsonism-spasticity syndrome	HP:0040283 - Occasional	36
HP:0000298	HP:0000298	Mask-like facies	0	ATP6V1A CL E G H	523	851	OMIM:617403	Cutis laxa, autosomal recessive, type IID	.	3
HP:0000298	HP:0000298	Mask-like facies	0	ATP7A CL E G H	538	869	ORPHA:565	Menkes disease	HP:0040282 - Frequent	192
HP:0000298	HP:0000298	Mask-like facies	0	ATXN2 CL E G H	6311	10555	OMIM:168600	Parkinson disease, late-onset	.	11
HP:0000298	HP:0000298	Mask-like facies	0	ATXN8OS CL E G H	6315	10561	OMIM:168600	Parkinson disease, late-onset	.	1
HP:0000298	HP:0000298	Mask-like facies	0	DCTN1 CL E G H	1639	2711	OMIM:168605	Perry syndrome	.	86
HP:0000298	HP:0000298	Mask-like facies	0	DNMT3B CL E G H	1789	2979	ORPHA:269	Facioscapulohumeral dystrophy	HP:0040281 - Very frequent	79
HP:0000298	HP:0000298	Mask-like facies	0	DUX4 CL E G H	100288687	50800	ORPHA:269	Facioscapulohumeral dystrophy	HP:0040281 - Very frequent
HP:0000298	HP:0000298	Mask-like facies	0	EIF2AK2 CL E G H	5610	9437	OMIM:618877	LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME; LEUDEN
HP:0000298	HP:0000298	Mask-like facies	0	FA2H CL E G H	79152	21197	ORPHA:171629	Autosomal recessive spastic paraplegia type 35	HP:0040283 - Occasional	76
HP:0000298	HP:0000298	Mask-like facies	0	FKRP CL E G H	79147	17997	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		157
HP:0000298	HP:0000298	Mask-like facies	0	FKTN CL E G H	2218	3622	ORPHA:272	Congenital muscular dystrophy, Fukuyama type	HP:0040281 - Very frequent	184
HP:0000298	HP:0000298	Mask-like facies	0	FKTN CL E G H	2218	3622	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		184
HP:0000298	HP:0000298	Mask-like facies	0	FMR1 CL E G H	2332	3775	OMIM:300623	Fragile X tremor/ataxia syndrome		30
HP:0000298	HP:0000298	Mask-like facies	0	FRG1 CL E G H	2483	3954	ORPHA:269	Facioscapulohumeral dystrophy	HP:0040281 - Very frequent	1
HP:0000298	HP:0000298	Mask-like facies	0	GBA1 CL E G H	2629	4177	OMIM:168600	Parkinson disease, late-onset	.
HP:0000298	HP:0000298	Mask-like facies	0	GLUD2 CL E G H	2747	4336	OMIM:168600	Parkinson disease, late-onset	.	1
HP:0000298	HP:0000298	Mask-like facies	0	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome	HP:0040282 - Frequent	345
HP:0000298	HP:0000298	Mask-like facies	0	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1		345
HP:0000298	HP:0000298	Mask-like facies	0	ITPR1 CL E G H	3708	6180	ORPHA:1065	Aniridia-cerebellar ataxia-intellectual disability syndrome	HP:0040281 - Very frequent	177
HP:0000298	HP:0000298	Mask-like facies	0	KCNJ6 CL E G H	3763	6267	ORPHA:435628	Keppen-Lubinsky syndrome	HP:0040282 - Frequent	3
HP:0000298	HP:0000298	Mask-like facies	0	KDM6A CL E G H	7403	12637	ORPHA:2322	Kabuki syndrome	HP:0040283 - Occasional	53
HP:0000298	HP:0000298	Mask-like facies	0	KMT2D CL E G H	8085	7133	ORPHA:2322	Kabuki syndrome	HP:0040283 - Occasional	660
HP:0000298	HP:0000298	Mask-like facies	0	LARGE1 CL E G H	9215	6511	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		136
HP:0000298	HP:0000298	Mask-like facies	0	MAPT CL E G H	4137	6893	OMIM:168600	Parkinson disease, late-onset	.	140
HP:0000298	HP:0000298	Mask-like facies	0	MRE11 CL E G H	4361	7230	ORPHA:251347	Ataxia-telangiectasia-like disorder	HP:0040282 - Frequent	532
HP:0000298	HP:0000298	Mask-like facies	0	MYH3 CL E G H	4621	7573	OMIM:193700	Arthrogryposis, distal, type 2A	.	166
HP:0000298	HP:0000298	Mask-like facies	0	NR4A2 CL E G H	4929	7981	OMIM:168600	Parkinson disease, late-onset	.	27
HP:0000298	HP:0000298	Mask-like facies	0	PABPN1 CL E G H	8106	8565	ORPHA:270	Oculopharyngeal muscular dystrophy	HP:0040283 - Occasional	10
HP:0000298	HP:0000298	Mask-like facies	0	PABPN1 CL E G H	8106	8565	OMIM:164300	Oculopharyngeal muscular dystrophy	.	10
HP:0000298	HP:0000298	Mask-like facies	0	PANK2 CL E G H	80025	15894	ORPHA:216866	Classic pantothenate kinase-associated neurodegeneration	HP:0040283 - Occasional	55
HP:0000298	HP:0000298	Mask-like facies	0	PAX6 CL E G H	5080	8620	ORPHA:1065	Aniridia-cerebellar ataxia-intellectual disability syndrome	HP:0040281 - Very frequent	194
HP:0000298	HP:0000298	Mask-like facies	0	PDGFB CL E G H	5155	8800	OMIM:213600	Basal ganglia calcification, idiopathic, 1	.	9
HP:0000298	HP:0000298	Mask-like facies	0	PDGFRB CL E G H	5159	8804	OMIM:213600	Basal ganglia calcification, idiopathic, 1	.	28
HP:0000298	HP:0000298	Mask-like facies	0	PIEZO2 CL E G H	63895	26270	ORPHA:2461	Marden-Walker syndrome	HP:0040281 - Very frequent	77
HP:0000298	HP:0000298	Mask-like facies	0	PLXND1 CL E G H	23129	9107	ORPHA:570	Moebius syndrome	HP:0040281 - Very frequent
HP:0000298	HP:0000298	Mask-like facies	0	POLG CL E G H	5428	9179	ORPHA:254886	Autosomal recessive progressive external ophthalmoplegia	HP:0040282 - Frequent	464
HP:0000298	HP:0000298	Mask-like facies	0	POMT1 CL E G H	10585	9202	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		213
HP:0000298	HP:0000298	Mask-like facies	0	POMT2 CL E G H	29954	19743	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		221
HP:0000298	HP:0000298	Mask-like facies	0	PRNP CL E G H	5621	9449	ORPHA:157941	Huntington disease-like 1	HP:0040283 - Occasional	69
HP:0000298	HP:0000298	Mask-like facies	0	REV3L CL E G H	5980	9968	ORPHA:570	Moebius syndrome	HP:0040281 - Very frequent	3
HP:0000298	HP:0000298	Mask-like facies	0	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1		69
HP:0000298	HP:0000298	Mask-like facies	0	SLC20A2 CL E G H	6575	10947	OMIM:213600	Basal ganglia calcification, idiopathic, 1	.	70
HP:0000298	HP:0000298	Mask-like facies	0	SLC6A8 CL E G H	6535	11055	ORPHA:52503	X-linked creatine transporter deficiency	HP:0040283 - Occasional	122
HP:0000298	HP:0000298	Mask-like facies	0	SMCHD1 CL E G H	23347	29090	ORPHA:269	Facioscapulohumeral dystrophy	HP:0040281 - Very frequent	174
HP:0000298	HP:0000298	Mask-like facies	0	SNCAIP CL E G H	9627	11139	OMIM:168600	Parkinson disease, late-onset	.	35
HP:0000298	HP:0000298	Mask-like facies	0	TBP CL E G H	6908	11588	OMIM:168600	Parkinson disease, late-onset	.	7
HP:0000298	HP:0000298	Mask-like facies	0	TH CL E G H	7054	11782	OMIM:605407	Segawa syndrome, autosomal recessive	.	80
HP:0000298	HP:0000298	Mask-like facies	0	TK2 CL E G H	7084	11831	ORPHA:254886	Autosomal recessive progressive external ophthalmoplegia	HP:0040282 - Frequent	103
HP:0000298	HP:0000298	Mask-like facies	0	TRIM32 CL E G H	22954	16380	ORPHA:1878	TRIM32-related limb-girdle muscular dystrophy R8	HP:0040281 - Very frequent	108
HP:0000298	HP:0000298	Mask-like facies	0	TRNT CL E G H	4576	7499	OMIM:168600	Parkinson disease, late-onset	.
HP:0000298	HP:0000298	Mask-like facies	0	UBA5 CL E G H	79876	23230	OMIM:617132	Epileptic encephalopathy, early infantile, 44	.	13
HP:0000298	HP:0000298	Mask-like facies	0	UBE3A CL E G H	7337	12496	ORPHA:238446	15q11q13 microduplication syndrome	HP:0040283 - Occasional	278

Genes (53) :ACTA1 ADH1C ATP13A2 ATP6AP2 ATP6V1A ATP7A ATXN2 ATXN8OS DCTN1 DNMT3B DUX4 EIF2AK2 FA2H FKRP FKTN FMR1 FRG1 GBA1 GLUD2 HSPG2 ITPR1 KCNJ6 KDM6A KMT2D LARGE1 MAPT MRE11 MYH3 NR4A2 PABPN1 PANK2 PAX6 PDGFB PDGFRB PIEZO2 PLXND1 POLG POMT1 POMT2 PRNP REV3L RIPK4 SLC20A2 SLC6A8 SMCHD1 SNCAIP TBP TH TK2 TRIM32 TRNT UBA5 UBE3A

Diseases (34) :OMIM:161800 OMIM:168600 OMIM:606693 ORPHA:363654 OMIM:617403 ORPHA:565 OMIM:168605 ORPHA:269 OMIM:618877 ORPHA:171629 OMIM:236670 ORPHA:272 OMIM:300623 ORPHA:800 OMIM:255800 ORPHA:1065 ORPHA:435628 ORPHA:2322 ORPHA:251347 OMIM:193700 ORPHA:270 OMIM:164300 ORPHA:216866 OMIM:213600 ORPHA:2461 ORPHA:570 ORPHA:254886 ORPHA:157941 OMIM:263650 ORPHA:52503 OMIM:605407 ORPHA:1878 OMIM:617132 ORPHA:238446

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

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