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 upper lip morphology (HP:0000177)

..Starting node
..Duplication of the upper lip (HP:0040295)

Term ID:

40295

Name:

Duplication of the upper lip

Synonym:

Double upper lip

Definition:

Comments:

Reference:

HP:0040295

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormality of the philtrum (HP:0000288)

Abnormality of upper lip vermillion (HP:0011339)

Cleft upper lip (HP:0000204)

Long upper lip (HP:0011341)

Short upper lip (HP:0000188)

Upper lip pit (HP:0100268)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0040295	HP:0040295	Duplication of the upper lip	0	CL E G H

Genes (0) :

Diseases (0) :

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