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 salivary gland morphology (HP:0010286)

Parent Node:
Abnormal parotid gland morphology (HP:0000197)

..Starting node
..Enlargement of parotid gland (HP:0011801)

Term ID:

11801

Name:

Enlargement of parotid gland

Synonym:

Hyperplasia of parotid gland; Hypertrophy of parotid gland; Increased size of parotid gland

Definition:

Increased size of the parotid gland.

Comments:

Reference:

HP:0011801

Genes and Diseases:

Child Nodes:

Sister Nodes:

Absence of Stensen duct (HP:0000198)

Aplasia of the parotid gland (HP:0009740)

Parotitis (HP:0011850)

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:0011801	HP:0011801	Enlargement of parotid gland	0	ATP2A2 CL E G H	488	812	OMIM:124200	Darier-White disease	.	86
HP:0011801	HP:0011801	Enlargement of parotid gland	0	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis	HP:0040283 - Occasional	1
HP:0011801	HP:0011801	Enlargement of parotid gland	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis	HP:0040283 - Occasional	2

Genes (3) :ATP2A2 BTNL2 HLA-DRB1

Diseases (2) :OMIM:124200 ORPHA:797

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