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 lip morphology (HP:0000159)

Grandparent Node:
Skin pit (HP:0100276)

Parent Node:
Lip pit (HP:0100267)

..Starting node
..Commissural lip pit (HP:0002710)

Term ID:

2710

Name:

Commissural lip pit

Synonym:

Commissural labial pits; Commissural pit; Lip pits at corners of the mouth; Pits at the corners of the lips

Definition:

A depression located at an oral commissure.

Comments:

Reference:

HP:0002710

Genes and Diseases:

Child Nodes:

Sister Nodes:

Paramedian lip pit (HP:0100269)

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:0002710	HP:0002710	Commissural lip pit	0	RIPK4 CL E G H	54101	496	ORPHA:1401	CHAND syndrome	HP:0040282 - Frequent	69
HP:0002710	HP:0002710	Commissural lip pit	0	RIPK4 CL E G H	54101	496	OMIM:214350	CHANDS	.	69
HP:0002710	HP:0002710	Commissural lip pit	0	SIX1 CL E G H	6495	10887	OMIM:608389	Branchiootic syndrome 3		50

Genes (2) :RIPK4 SIX1

Diseases (3) :ORPHA:1401 OMIM:214350 OMIM:608389

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