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 mucosa morphology (HP:0011830)

Parent Node:
Abnormal pigmentation of the oral mucosa (HP:0100669)

..Starting node
..Reticulate pigmentation of oral mucosa (HP:0012788)

Term ID:

12788

Name:

Reticulate pigmentation of oral mucosa

Synonym:

Mottled pigmentation of oral mucosa; Reticulate pigmentation of oral mucous membrane

Definition:

A net-like pattern of increased pigmentation of the oral cavity.

Comments:

Reference:

HP:0012788

Genes and Diseases:

Child Nodes:

Sister Nodes:

Intra-oral hyperpigmentation (HP:0010284)

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:0012788	HP:0012788	Reticulate pigmentation of oral mucosa	0	KRT14 CL E G H	3861	6416	OMIM:125595	Dermatopathia pigmentosa reticularis	.	110

Genes (1) :KRT14

Diseases (1) :OMIM:125595

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