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:
Lip pit (HP:0100267)

Parent Node:
Abnormal upper lip morphology (HP:0000177)

Parent Node:
Paramedian lip pit (HP:0100269)

..Starting node
..Upper lip pit (HP:0100268)

Term ID:

100268

Name:

Upper lip pit

Synonym:

Definition:

Depression located on the vermilion of the upper lip, usually paramedian.

Comments:

Reference:

HP:0100268

Genes and Diseases:

Child Nodes:

Sister Nodes:

Lower lip pit (HP:0000196)

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:0100268	HP:0100268	Upper lip pit	0	TFAP2A CL E G H	7020	11742	ORPHA:1297	Branchio-oculo-facial syndrome	HP:0040283 - Occasional	12

Genes (1) :TFAP2A

Diseases (1) :ORPHA:1297

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