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)

Parent Node:
Abnormal lower lip morphology (HP:0000178)

..Starting node
..Curved linear dimple below the lower lip (HP:0002055)

Term ID:

2055

Name:

Curved linear dimple below the lower lip

Synonym:

Definition:

Comments:

Reference:

HP:0002055

Genes and Diseases:

Child Nodes:

Sister Nodes:

Cleft lower lip (HP:0010281)

Everted lower lip vermilion (HP:0000232)

Lower lip pit (HP:0000196)

Thick lower lip vermilion (HP:0000179)

Thin lower lip vermilion (HP:0010282)

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:0002055	HP:0002055	Curved linear dimple below the lower lip	0	FGD1 CL E G H	2245	3663	OMIM:305400	Aarskog-Scott syndrome	.	62

Genes (1) :FGD1

Diseases (1) :OMIM:305400

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