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 nasolacrimal system morphology (HP:0000614)

Parent Node:
Abnormal lacrimal gland morphology (HP:0011482)

..Starting node
..Enlarged lacrimal glands (HP:0007734)

Term ID:

7734

Name:

Enlarged lacrimal glands

Synonym:

Enlarged tear gland

Definition:

Abnormally big lacrimal glands.

Comments:

Reference:

HP:0007734

Genes and Diseases:

Child Nodes:

Sister Nodes:

Aplastic/hypoplastic lacrimal glands (HP:0008038)

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:0007734	HP:0007734	Enlarged lacrimal glands	0	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis	HP:0040283 - Occasional	1
HP:0007734	HP:0007734	Enlarged lacrimal glands	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis	HP:0040283 - Occasional	2
HP:0007734	HP:0007734	Enlarged lacrimal glands	0	HLA-DRB1 CL E G H	3123	4948	OMIM:181000	Sarcoidosis, susceptibility to, 1	.	2

Genes (2) :BTNL2 HLA-DRB1

Diseases (2) :ORPHA:797 OMIM:181000

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