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:
Abnormal facial expression (HP:0005346)

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

..Starting node
..Sleepy facial expression (HP:0005335)

Term ID:

5335

Name:

Sleepy facial expression

Synonym:

Sleepy facial expression; Somnolent facial expression

Definition:

Comments:

Reference:

HP:0005335

Genes and Diseases:

Child Nodes:

Sister Nodes:

Facial grimacing (HP:0000273)

Facial tics (HP:0011468)

Risus sardonicus (HP:0040212)

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:0005335	HP:0005335	Sleepy facial expression	0	DNM2 CL E G H	1785	2974	OMIM:160150	Myopathy, centronuclear, autosomal dominant	.	167
HP:0005335	HP:0005335	Sleepy facial expression	0	MTMR14 CL E G H	64419	26190	OMIM:160150	Myopathy, centronuclear, autosomal dominant	.	7
HP:0005335	HP:0005335	Sleepy facial expression	0	PMP22 CL E G H	5376	9118	ORPHA:98916	Acute inflammatory demyelinating polyradiculoneuropathy	HP:0040282 - Frequent	79

Genes (3) :DNM2 MTMR14 PMP22

Diseases (2) :OMIM:160150 ORPHA:98916

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