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:
Abnormal lip morphology (HP:0000159)

..Starting node
..Lip discoloration (HP:0025118)

Term ID:

25118

Name:

Lip discoloration

Synonym:

Definition:

Lightening or darkening of the lips from their usual coloring.

Comments:

Reference:

HP:0025118

Genes and Diseases:

Child Nodes:

........

Violet lip discoloration (HP:0025119)

Sister Nodes:

Abnormal lower lip morphology (HP:0000178)

Abnormal upper lip morphology (HP:0000177)

Chapped lip (HP:0040181)

Cheilitis (HP:0100825)

Eclabion (HP:0012472)

Fused lips (HP:0100788)

Lip fissure (HP:0031250)

Lip freckle (HP:0010798)

Lip hyperpigmentation (HP:0100816)

Lip pit (HP:0100267)

Lip telangiectasia (HP:0000214)

Neoplasm of the lip (HP:0100604)

Swollen lip (HP:0031244)

Thick vermilion border (HP:0012471)

Thin vermilion border (HP:0000233)

Vascular malformation of the lip (HP:0031486)

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:0025118	HP:0025118	Lip discoloration	0	CYB5A CL E G H	1528	2570	ORPHA:621	Hereditary methemoglobinemia	HP:0040282 - Frequent	2
HP:0025118	HP:0025118	Lip discoloration	0	CYB5R3 CL E G H	1727	2873	ORPHA:621	Hereditary methemoglobinemia	HP:0040282 - Frequent	24
HP:0025118	HP:0025119	Violet lip discoloration	1	CL E G H

Genes (2) :CYB5A CYB5R3

Diseases (1) :ORPHA:621

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