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 midface morphology (HP:0000309)

Parent Node:
Abnormal cheek morphology (HP:0004426)

..Starting node
..Abnormal buccal mucosa morphology (HP:3000019)

Term ID:

3000019

Name:

Abnormal buccal mucosa morphology

Synonym:

Abnormality of buccal mucosa; Abnormality of cheek mucosa; Abnormality of inside lining of cheek

Definition:

An abnormality of a buccal mucosa.

Comments:

Reference:

HP:3000019

Genes and Diseases:

Child Nodes:

........

Abnormal distribution of cell junction proteins in buccal mucosal cells (HP:0410023)

Sister Nodes:

Abnormal buccal fat pad morphology (HP:3000021)

Abnormal periauricular region morphology (HP:0000383)

Abnormality of buccinator muscle (HP:3000027)

Abnormality of risorius muscle (HP:3000015)

Abnormality of zygomaticus major muscle (HP:3000018)

Abnormality of zygomaticus minor muscle (HP:3000020)

Full cheeks (HP:0000293)

Sunken cheeks (HP:0009938)

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:3000019	HP:3000019	Abnormal buccal mucosa morphology	0	CYP26C1 CL E G H	340665	20577	ORPHA:398189	Focal facial dermal dysplasia type IV	HP:0040281 - Very frequent	2
HP:3000019	HP:0410023	Abnormal distribution of cell junction proteins in buccal mucosal cells	1	CL E G H

Genes (1) :CYP26C1

Diseases (1) :ORPHA:398189

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