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 fat pad morphology (HP:3000021)

Term ID:

3000021

Name:

Abnormal buccal fat pad morphology

Synonym:

Abnormality of buccal fat pad

Definition:

An abnormality of a buccal fat pad.

Comments:

Reference:

HP:3000021

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal buccal mucosa morphology (HP:3000019)

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
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:3000021	HP:3000021	Abnormal buccal fat pad morphology	0	CL E G H

Genes (0) :

Diseases (0) :

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