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
..Labial melanotic macule (HP:0032454)

Term ID:

32454

Name:

Labial melanotic macule

Synonym:

Labial melanotic freckle

Definition:

Flat, distinct, discolored area on the lip less than 1 cm wide not associated with a change in the thickness or texture.

Comments:

Reference:

HP:0032454

Genes and Diseases:

Child Nodes:

Sister Nodes:

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0032454	HP:0032454	Labial melanotic macule	0	STK11 CL E G H	6794	11389	OMIM:175200	Peutz-Jeghers syndrome	740

Genes (1) :STK11

Diseases (1) :OMIM:175200

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