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

..Starting node
..Abnormal lip pigmentation (HP:0032453)

Term ID:

32453

Name:

Abnormal lip pigmentation

Synonym:

Definition:

Abnormal coloring of the lip, whereby the lip discolored, blotchy, or darker or lighter than normal.

Comments:

Reference:

HP:0032453

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0032453	HP:0032453	Abnormal lip pigmentation	0	ABCD1 CL E G H	215	61	ORPHA:139399	Adrenomyeloneuropathy		135
HP:0032453	HP:0032453	Abnormal lip pigmentation	0	CYB5A CL E G H	1528	2570	ORPHA:621	Hereditary methemoglobinemia		2
HP:0032453	HP:0032453	Abnormal lip pigmentation	0	CYB5R3 CL E G H	1727	2873	ORPHA:621	Hereditary methemoglobinemia		24
HP:0032453	HP:0032453	Abnormal lip pigmentation	0	STK11 CL E G H	6794	11389	OMIM:175200	Peutz-Jeghers syndrome		740
HP:0032453	HP:0100816	Lip hyperpigmentation	1	ABCD1 CL E G H	215	61	ORPHA:139399	Adrenomyeloneuropathy	HP:0040282 - Frequent	135
HP:0032453	HP:0025118	Lip discoloration	1	CYB5A CL E G H	1528	2570	ORPHA:621	Hereditary methemoglobinemia	HP:0040282 - Frequent	2
HP:0032453	HP:0025118	Lip discoloration	1	CYB5R3 CL E G H	1727	2873	ORPHA:621	Hereditary methemoglobinemia	HP:0040282 - Frequent	24
HP:0032453	HP:0032454	Labial melanotic macule	1	STK11 CL E G H	6794	11389	OMIM:175200	Peutz-Jeghers syndrome		740
HP:0032453	HP:0025119	Violet lip discoloration	2	CL E G H

Genes (4) :ABCD1 CYB5A CYB5R3 STK11

Diseases (3) :ORPHA:139399 ORPHA:621 OMIM:175200

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