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:
Decreased facial expression (HP:0004673)

..Starting node
..Fixed facial expression (HP:0005329)

Term ID:

5329

Name:

Fixed facial expression

Synonym:

Fixed facial expression; Unchanging facial expression

Definition:

Comments:

Reference:

HP:0005329

Genes and Diseases:

Child Nodes:

Sister Nodes:

Hypomimic face (HP:0000338)

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:0005329	HP:0005329	Fixed facial expression	0	MAPT CL E G H	4137	6893	ORPHA:240094	Progressive supranuclear palsy-pure akinesia with gait freezing syndrome	HP:0040282 - Frequent	140
HP:0005329	HP:0005329	Fixed facial expression	0	PIEZO2 CL E G H	63895	26270	OMIM:248700	Marden-Walker syndrome	.	77

Genes (2) :MAPT PIEZO2

Diseases (2) :ORPHA:240094 OMIM:248700

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