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 oral cavity morphology (HP:0000163)

Parent Node:
Abnormality of mouth shape (HP:0011338)

..Starting node
..Asymmetry of the mouth (HP:0009941)

Term ID:

9941

Name:

Asymmetry of the mouth

Synonym:

Asymmetry of oral cavity; Asymmetry of the mouth; Canted mouth; Crooked mouth; Tilted mouth; Uneven mouth

Definition:

The presence of an asymmetric mouth.

Comments:

Reference:

HP:0009941

Genes and Diseases:

Child Nodes:

Sister Nodes:

Downturned corners of mouth (HP:0002714)

Open mouth (HP:0000194)

Pursed lips (HP:0000205)

Transverse facial cleft (HP:0100731)

Triangular mouth (HP:0000207)

Upturned corners of mouth (HP:0010805)

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:0009941	HP:0009941	Asymmetry of the mouth	0	EBP CL E G H	10682	3133	ORPHA:401973	MEND syndrome	HP:0040282 - Frequent	51
HP:0009941	HP:0009941	Asymmetry of the mouth	0	NOG CL E G H	9241	7866	OMIM:186500	Multiple synostoses syndrome 1		22

Genes (2) :EBP NOG

Diseases (2) :ORPHA:401973 OMIM:186500

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