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:
Abnormality of facial musculature (HP:0000301)

Parent Node:
Decreased facial expression (HP:0004673)

..Starting node
..Hypomimic face (HP:0000338)

Term ID:

338

Name:

Hypomimic face

Synonym:

Decreased facial expressions; Decreased facial muscle movement; Dull facial expression; Hypomimia

Definition:

A reduced degree of motion of the muscles beneath the skin of the face, often associated with reduced facial crease formation.

Comments:

Reference:

HP:0000338

Genes and Diseases:

Child Nodes:

Sister Nodes:

Fixed facial expression (HP:0005329)

Loss of facial expression (HP:0005327)

Mask-like facies (HP:0000298)

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:0000338	HP:0000338	Hypomimic face	0	ATP13A2 CL E G H	23400	30213	ORPHA:306674	Kufor-Rakeb syndrome	HP:0040282 - Frequent	100
HP:0000338	HP:0000338	Hypomimic face	0	ATP1A3 CL E G H	478	801	OMIM:128235	Dystonia 12	.	150
HP:0000338	HP:0000338	Hypomimic face	0	ATP1A3 CL E G H	478	801	ORPHA:71517	Rapid-onset dystonia-parkinsonism	HP:0040282 - Frequent	150
HP:0000338	HP:0000338	Hypomimic face	0	ATP6AP2 CL E G H	10159	18305	OMIM:300423	MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE; MRXSH		36
HP:0000338	HP:0000338	Hypomimic face	0	ATP6AP2 CL E G H	10159	18305	OMIM:300911	Parkinsonism with spasticity, X-linked		36
HP:0000338	HP:0000338	Hypomimic face	0	ATP6AP2 CL E G H	10159	18305	ORPHA:93952	X-linked intellectual disability, Hedera type	HP:0040283 - Occasional	36
HP:0000338	HP:0000338	Hypomimic face	0	CC2D1A CL E G H	54862	30237	OMIM:608443	Mental retardation, autosomal recessive 3	.	57
HP:0000338	HP:0000338	Hypomimic face	0	CLTC CL E G H	1213	2092	OMIM:617854	Mental retardation, autosomal dominant 56		1
HP:0000338	HP:0000338	Hypomimic face	0	DDHD2 CL E G H	23259	29106	OMIM:615033	Spastic paraplegia 54, autosomal recessive		29
HP:0000338	HP:0000338	Hypomimic face	0	DNAJC13 CL E G H	23317	30343	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional	2
HP:0000338	HP:0000338	Hypomimic face	0	DNAJC6 CL E G H	9829	15469	ORPHA:391411	Atypical juvenile parkinsonism	HP:0040281 - Very frequent	6
HP:0000338	HP:0000338	Hypomimic face	0	DNAJC6 CL E G H	9829	15469	OMIM:615528	Parkinson disease 19a, juvenile-onset		6
HP:0000338	HP:0000338	Hypomimic face	0	EIF4G1 CL E G H	1981	3296	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional	2
HP:0000338	HP:0000338	Hypomimic face	0	FBXO7 CL E G H	25793	13586	OMIM:260300	Parkinson disease 15, autosomal recessive early-onset	.	36
HP:0000338	HP:0000338	Hypomimic face	0	FBXO7 CL E G H	25793	13586	ORPHA:171695	Parkinsonian-pyramidal syndrome	HP:0040282 - Frequent	36
HP:0000338	HP:0000338	Hypomimic face	0	FTL CL E G H	2512	3999	OMIM:606159	Neurodegeneration with brain iron accumulation 3		33
HP:0000338	HP:0000338	Hypomimic face	0	FTL CL E G H	2512	3999	ORPHA:157846	Neuroferritinopathy	HP:0040282 - Frequent	33
HP:0000338	HP:0000338	Hypomimic face	0	GBA1 CL E G H	2629	4177	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional
HP:0000338	HP:0000338	Hypomimic face	0	GIGYF2 CL E G H	26058	11960	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional	8
HP:0000338	HP:0000338	Hypomimic face	0	JAM2 CL E G H	58494	14686	OMIM:618824	BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 8, AUTOSOMAL RECESSIVE; IBGC8
HP:0000338	HP:0000338	Hypomimic face	0	KCNK9 CL E G H	51305	6283	ORPHA:166108	Intellectual disability, Birk-Barel type	HP:0040282 - Frequent	4
HP:0000338	HP:0000338	Hypomimic face	0	LRRK2 CL E G H	120892	18618	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional	221
HP:0000338	HP:0000338	Hypomimic face	0	MYMX CL E G H	101929726	52391	OMIM:619941
HP:0000338	HP:0000338	Hypomimic face	0	OGDHL CL E G H	55753	25590	OMIM:619701	YOON-BELLEN NEURODEVELOPMENTAL SYNDROME; YOBELN		3
HP:0000338	HP:0000338	Hypomimic face	0	PLA2G6 CL E G H	8398	9039	ORPHA:199351	Adult-onset dystonia-parkinsonism	HP:0040282 - Frequent	133
HP:0000338	HP:0000338	Hypomimic face	0	PLA2G6 CL E G H	8398	9039	OMIM:612953	Parkinson disease 14, autosomal recessive		133
HP:0000338	HP:0000338	Hypomimic face	0	PLAA CL E G H	9373	9043	OMIM:617527	Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies	.	3
HP:0000338	HP:0000338	Hypomimic face	0	PODXL CL E G H	5420	9171	ORPHA:391411	Atypical juvenile parkinsonism	HP:0040281 - Very frequent	6
HP:0000338	HP:0000338	Hypomimic face	0	POLG CL E G H	5428	9179	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040282 - Frequent	464
HP:0000338	HP:0000338	Hypomimic face	0	POLG2 CL E G H	11232	9180	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040282 - Frequent	45
HP:0000338	HP:0000338	Hypomimic face	0	PRDX3 CL E G H	10935	9354	OMIM:619862
HP:0000338	HP:0000338	Hypomimic face	0	RRM2B CL E G H	50484	17296	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040282 - Frequent	125
HP:0000338	HP:0000338	Hypomimic face	0	SLC18A2 CL E G H	6571	10935	ORPHA:352649	Brain dopamine-serotonin vesicular transport disease	HP:0040281 - Very frequent	2
HP:0000338	HP:0000338	Hypomimic face	0	SLC18A2 CL E G H	6571	10935	OMIM:618049	Parkinsonism-Dystonia, infantile, 2		2
HP:0000338	HP:0000338	Hypomimic face	0	SLC25A4 CL E G H	291	10990	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040282 - Frequent	68
HP:0000338	HP:0000338	Hypomimic face	0	SLC30A10 CL E G H	55532	25355	ORPHA:309854	Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome	HP:0040282 - Frequent	42
HP:0000338	HP:0000338	Hypomimic face	0	SLC39A14 CL E G H	23516	20858	ORPHA:521406	Dystonia-parkinsonism-hypermanganesemia syndrome	HP:0040282 - Frequent	5
HP:0000338	HP:0000338	Hypomimic face	0	SLC39A14 CL E G H	23516	20858	OMIM:617013	Hypermanganesemia with dystonia 2		5
HP:0000338	HP:0000338	Hypomimic face	0	SLC6A3 CL E G H	6531	11049	ORPHA:238455	Infantile dystonia-parkinsonism	HP:0040282 - Frequent	13
HP:0000338	HP:0000338	Hypomimic face	0	SLC6A3 CL E G H	6531	11049	OMIM:613135	Parkinsonism-Dystonia, infantile, 1		13
HP:0000338	HP:0000338	Hypomimic face	0	SNCA CL E G H	6622	11138	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional	65
HP:0000338	HP:0000338	Hypomimic face	0	SNCA CL E G H	6622	11138	ORPHA:171695	Parkinsonian-pyramidal syndrome	HP:0040282 - Frequent	65
HP:0000338	HP:0000338	Hypomimic face	0	SPR CL E G H	6697	11257	ORPHA:70594	Dopa-responsive dystonia due to sepiapterin reductase deficiency	HP:0040282 - Frequent	28
HP:0000338	HP:0000338	Hypomimic face	0	SYNJ1 CL E G H	8867	11503	ORPHA:391411	Atypical juvenile parkinsonism	HP:0040281 - Very frequent	9
HP:0000338	HP:0000338	Hypomimic face	0	TECPR2 CL E G H	9895	19957	ORPHA:320385	Hereditary sensory and autonomic neuropathy due to TECPR2 mutation	HP:0040282 - Frequent	39
HP:0000338	HP:0000338	Hypomimic face	0	TECPR2 CL E G H	9895	19957	OMIM:615031	Spastic paraplegia 49, autosomal recessive	.	39
HP:0000338	HP:0000338	Hypomimic face	0	TWNK CL E G H	56652	1160	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040282 - Frequent	113
HP:0000338	HP:0000338	Hypomimic face	0	TXNL4A CL E G H	10907	30551	OMIM:608572	Burn-Mckeown syndrome	.	19
HP:0000338	HP:0000338	Hypomimic face	0	VPS35 CL E G H	55737	13487	ORPHA:411602	Hereditary late-onset Parkinson disease	HP:0040283 - Occasional	37

Genes (37) :ATP13A2 ATP1A3 ATP6AP2 CC2D1A CLTC DDHD2 DNAJC13 DNAJC6 EIF4G1 FBXO7 FTL GBA1 GIGYF2 JAM2 KCNK9 LRRK2 MYMX OGDHL PLA2G6 PLAA PODXL POLG POLG2 PRDX3 RRM2B SLC18A2 SLC25A4 SLC30A10 SLC39A14 SLC6A3 SNCA SPR SYNJ1 TECPR2 TWNK TXNL4A VPS35

Diseases (36) :ORPHA:306674 OMIM:128235 ORPHA:71517 OMIM:300423 OMIM:300911 ORPHA:93952 OMIM:608443 OMIM:617854 OMIM:615033 ORPHA:411602 ORPHA:391411 OMIM:615528 OMIM:260300 ORPHA:171695 OMIM:606159 ORPHA:157846 OMIM:618824 ORPHA:166108 OMIM:619941 OMIM:619701 ORPHA:199351 OMIM:612953 OMIM:617527 ORPHA:254892 OMIM:619862 ORPHA:352649 OMIM:618049 ORPHA:309854 ORPHA:521406 OMIM:617013 ORPHA:238455 OMIM:613135 ORPHA:70594 ORPHA:320385 OMIM:615031 OMIM:608572

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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