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 cavity morphology (HP:0000163)

Grandparent Node:
Neoplasm by anatomical site (HP:0011793)

Parent Node:
Abnormal salivary gland morphology (HP:0010286)

Parent Node:
Neoplasm of the oral cavity (HP:0100649)

..Starting node
..Salivary gland neoplasm (HP:0100684)

Term ID:

100684

Name:

Salivary gland neoplasm

Synonym:

Cancer of salivary gland; Salivary gland neoplasia; Tumor of salivary gland; Tumour of salivary gland

Definition:

A tumor (abnormal growth of tissue) of a salivary gland.

Comments:

Reference:

HP:0100684

Genes and Diseases:

Child Nodes:

........

Salivary gland oncocytoma (HP:0031523)

Sister Nodes:

Epignathus (HP:0030767)

Neoplasm of the tongue (HP:0100648)

Odontogenic neoplasm (HP:0100612)

Palate neoplasm (HP:0031366)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0100684	HP:0100684	Salivary gland neoplasm	0	PLAG1 CL E G H	5324	181030	Pleomorphic adenoma of salivary gland	181030	C1519176	OMIM	1	43	9045	603026
HP:0100684	HP:0031523	Salivary gland oncocytoma	1	PLAG1 CL E G H	5324	181030	Pleomorphic adenoma of salivary gland	181030	C1519176	OMIM	1	43	9045	603026
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0100684	HP:0100684	Salivary gland neoplasm	0	MLH1 CL E G H	4292	587	Al Gazali Sabrinathan Nair syndrome			ORPHA	0	4826	7127	120436
HP:0100684	HP:0100684	Salivary gland neoplasm	0	MSH2 CL E G H	4436	587	Al Gazali Sabrinathan Nair syndrome			ORPHA	0	6374	7325	609309
HP:0100684	HP:0100684	Salivary gland neoplasm	0	MSH6 CL E G H	2956	587	Al Gazali Sabrinathan Nair syndrome			ORPHA	0	7706	7329	600678
HP:0100684	HP:0031523	Salivary gland oncocytoma	1	MLH1 CL E G H	4292	587	Al Gazali Sabrinathan Nair syndrome			ORPHA	0	4826	7127	120436
HP:0100684	HP:0031523	Salivary gland oncocytoma	1	MSH2 CL E G H	4436	587	Al Gazali Sabrinathan Nair syndrome			ORPHA	0	6374	7325	609309
HP:0100684	HP:0031523	Salivary gland oncocytoma	1	MSH6 CL E G H	2956	587	Al Gazali Sabrinathan Nair syndrome			ORPHA	0	7706	7329	600678

Genes (4) :MLH1 MSH2 MSH6 PLAG1

Diseases (2) :587 181030

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.