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 muscle tone (HP:0003808)

Parent Node:
Abnormality of facial musculature (HP:0000301)

Parent Node:
Hypotonia (HP:0001252)

..Starting node
..Facial hypotonia (HP:0000297)

Term ID:

297

Name:

Facial hypotonia

Synonym:

Atony of facial musculature; Decreased facial muscle tone; Hypotonic facies; Low facial muscle tone; Reduced facial muscle tone

Definition:

Reduced muscle tone of a muscle that is innervated by the facial nerve (the seventh cranial nerve).

Comments:

Reference:

HP:0000297

Genes and Diseases:

Child Nodes:

Sister Nodes:

Appendicular hypotonia (HP:0012389)

Frog-leg posture (HP:0031139)

Generalized hypotonia (HP:0001290)

Infantile muscular hypotonia (HP:0008947)

Muscular hypotonia of the trunk (HP:0008936)

Neonatal hypotonia (HP:0001319)

Oral motor hypotonia (HP:0030190)

Severe muscular hypotonia (HP:0006829)

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:0000297	HP:0000297	Facial hypotonia	0	AMPD2 CL E G H	271	615809	Pontocerebellar hypoplasia, type 9	615809	C4014354	OMIM	1	392	469	102771
HP:0000297	HP:0000297	Facial hypotonia	0	AP4B1 CL E G H	10717	280763				ORPHA	1	403	572	607245
HP:0000297	HP:0000297	Facial hypotonia	0	AP4E1 CL E G H	23431	280763				ORPHA	1	509	573	607244
HP:0000297	HP:0000297	Facial hypotonia	0	AP4E1 CL E G H	23431	613744	Spastic paraplegia 51, autosomal recessive	613744	C3151056	OMIM	1	509	573	607244
HP:0000297	HP:0000297	Facial hypotonia	0	AP4M1 CL E G H	9179	280763				ORPHA	1	429	574	602296
HP:0000297	HP:0000297	Facial hypotonia	0	AP4S1 CL E G H	11154	280763				ORPHA	1	148	575	607243
HP:0000297	HP:0000297	Facial hypotonia	0	AP4S1 CL E G H	11154	614067	Spastic paraplegia 52, autosomal recessive	614067	C3279743	OMIM	1	148	575	607243
HP:0000297	HP:0000297	Facial hypotonia	0	CHAMP1 CL E G H	283489	616579	Mental retardation, autosomal dominant 40	616579	C4225275	OMIM	1	287	20311	616327
HP:0000297	HP:0000297	Facial hypotonia	0	DSE CL E G H	29940	615539	Ehlers-Danlos syndrome, musculocontractural type 2	615539	C3809845	OMIM	1	364	21144	605942
HP:0000297	HP:0000297	Facial hypotonia	0	KDM5C CL E G H	8242	300534	Mental retardation, syndromic, Claes-Jensen type, X-linked	300534	C1845243	OMIM	1	756	11114	314690
HP:0000297	HP:0000297	Facial hypotonia	0	MECP2 CL E G H	4204	300260	MECP2 duplication syndrome	300260	C1846058	OMIM	1	1925	6990	300005
HP:0000297	HP:0000297	Facial hypotonia	0	MECP2 CL E G H	4204	300055	Mental retardation, X-linked, syndromic 13	300055	C1968550	OMIM	1	1925	6990	300005
HP:0000297	HP:0000297	Facial hypotonia	0	POGZ CL E G H	23126	616364	White-sutton syndrome	616364	C4225351	OMIM	1	611	18801	614787
HP:0000297	HP:0000297	Facial hypotonia	0	PPP2R1A CL E G H	5518	616362	Mental retardation, autosomal dominant 36	616362	C4225352	OMIM	1	358	9302	605983
HP:0000297	HP:0000297	Facial hypotonia	0	PPP2R5D CL E G H	5528	616355	Mental retardation, autosomal dominant 35	616355	C4225354	OMIM	1	397	9312	601646
HP:0000297	HP:0000297	Facial hypotonia	0	RAB11B CL E G H	9230	617807	NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER	617807	C4540498	OMIM	1	161	9761	604198
HP:0000297	HP:0000297	Facial hypotonia	0	STRADA CL E G H	92335	611087	Polyhydramnios, megalencephaly, and symptomatic epilepsy	611087	C1970203	OMIM	1	340	30172	608626
HP:0000297	HP:0000297	Facial hypotonia	0	TBCD CL E G H	6904	617193	Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum	617193	C4310671	OMIM	1	705	11581	604649
HP:0000297	HP:0000297	Facial hypotonia	0	VPS13B CL E G H	157680	216550	Cohen syndrome	216550	C0265223	OMIM	1	4876	2183	607817
HP:0000297	HP:0000297	Facial hypotonia	0	XYLT2 CL E G H	64132	85194				ORPHA	1	327	15517	608125
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000297	HP:0000297	Facial hypotonia	0	MYOT CL E G H	9499	266				ORPHA	0	372	12399	604103
HP:0000297	HP:0000297	Facial hypotonia	0	NGLY1 CL E G H	55768	615273	Congenital disorder of deglycosylation	615273	C3808991	OMIM	0	656	17646	610661
HP:0000297	HP:0000297	Facial hypotonia	0	UNC80 CL E G H	285175	616801	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2	616801	C4225203	OMIM	0	1816	26582	612636

Genes (20) :AMPD2 AP4B1 AP4E1 AP4M1 AP4S1 CHAMP1 DSE KDM5C MECP2 MYOT NGLY1 POGZ PPP2R1A PPP2R5D RAB11B STRADA TBCD UNC80 VPS13B XYLT2

Diseases (20) :615809 280763 613744 614067 616579 615539 300534 300260 300055 266 615273 616364 616362 616355 617807 611087 617193 616801 216550 85194

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