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
..White oral mucosal macule (HP:0033026)

Term ID:

33026

Name:

White oral mucosal macule

Synonym:

Definition:

A small circumscribed whitish change in the color of the oral mucosa that is neither elevated nor depressed.

Comments:

Reference:

HP:0033026

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:0033026	HP:0033026	White oral mucosal macule	0	ABCC6 CL E G H	368	57	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE	415
HP:0033026	HP:0033026	White oral mucosal macule	0	XYLT1 CL E G H	64131	15516	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE	14
HP:0033026	HP:0033026	White oral mucosal macule	0	XYLT2 CL E G H	64132	15517	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE	5

Genes (3) :ABCC6 XYLT1 XYLT2

Diseases (1) :OMIM:264800

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