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
..Loss of facial expression (HP:0005327)

Term ID:

5327

Name:

Loss of facial expression

Synonym:

Loss of facial expression

Definition:

Comments:

Reference:

HP:0005327

Genes and Diseases:

Child Nodes:

Sister Nodes:

Fixed facial expression (HP:0005329)

Hypomimic face (HP:0000338)

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:0005327	HP:0005327	Loss of facial expression	0	HLA-DQB1 CL E G H	3119	4944	OMIM:123400	Creutzfeldt-Jakob disease	.
HP:0005327	HP:0005327	Loss of facial expression	0	PRNP CL E G H	5621	9449	OMIM:123400	Creutzfeldt-Jakob disease	.	69
HP:0005327	HP:0005327	Loss of facial expression	0	PRNP CL E G H	5621	9449	ORPHA:282166	Inherited Creutzfeldt-Jakob disease	HP:0040282 - Frequent	69

Genes (2) :HLA-DQB1 PRNP

Diseases (2) :OMIM:123400 ORPHA:282166

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