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:
Myoclonus (HP:0001336)

Parent Node:
Myoclonic spasms (HP:0003739)

..Starting node
..Hemifacial spasm (HP:0010828)

Term ID:

10828

Name:

Hemifacial spasm

Synonym:

Hemifacial spasms; Spasms on one side of the face

Definition:

Intermittent clonic or tonic contraction of muscles supplied by facial nerve. Muscles are relaxed in between contractions.

Comments:

Reference:

HP:0010828

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0010828	HP:0010828	Hemifacial spasm	0	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma	HP:0040284 - Very rare	54
HP:0010828	HP:0010828	Hemifacial spasm	0	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma	HP:0040284 - Very rare	184
HP:0010828	HP:0010828	Hemifacial spasm	0	INPP5E CL E G H	56623	21474	OMIM:213300	Joubert syndrome 1	.	111
HP:0010828	HP:0010828	Hemifacial spasm	0	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma	HP:0040284 - Very rare	220
HP:0010828	HP:0010828	Hemifacial spasm	0	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma	HP:0040284 - Very rare	9
HP:0010828	HP:0010828	Hemifacial spasm	0	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma	HP:0040284 - Very rare	162
HP:0010828	HP:0010828	Hemifacial spasm	0	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma	HP:0040284 - Very rare	87
HP:0010828	HP:0010828	Hemifacial spasm	0	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma	HP:0040284 - Very rare	47
HP:0010828	HP:0010828	Hemifacial spasm	0	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma	HP:0040284 - Very rare	22
HP:0010828	HP:0010828	Hemifacial spasm	0	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma	HP:0040284 - Very rare	124
HP:0010828	HP:0010828	Hemifacial spasm	0	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma	HP:0040284 - Very rare	238
HP:0010828	HP:0010828	Hemifacial spasm	0	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma	HP:0040284 - Very rare

Genes (12) :AKT1 BAP1 INPP5E NF2 PDGFB PIK3CA SMARCB1 SMARCE1 SMO SUFU TERT TRAF7

Diseases (2) :ORPHA:2495 OMIM:213300

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