Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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)

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

..Starting node
..Abnormal parotid gland morphology (HP:0000197)

Term ID:

197

Name:

Abnormal parotid gland morphology

Synonym:

Abnormality of parotid gland; Anomaly of the parotid gland

Definition:

Any abnormality of the parotid glands, which are the salivary glands that are located in the subcutaneous tissues of the face overlying the mandibular ramus and anterior and inferior to the external ear.

Comments:

Reference:

HP:0000197

Genes and Diseases:

Child Nodes:

........

Absence of Stensen duct (HP:0000198)

........

Aplasia of the parotid gland (HP:0009740)

........

Enlargement of parotid gland (HP:0011801)

........

Parotitis (HP:0011850)

Sister Nodes:

Abnormality of the sublingual glands (HP:0010288)

Abnormality of the submandibular glands (HP:0010287)

Ranula (HP:0030706)

Salivary gland neoplasm (HP:0100684)

Sialadenitis (HP:0031281)

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:0000197	HP:0000197	Abnormal parotid gland morphology	0	ATP2A2 CL E G H	488	812	OMIM:124200	Darier-White disease		86
HP:0000197	HP:0000197	Abnormal parotid gland morphology	0	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis		1
HP:0000197	HP:0000197	Abnormal parotid gland morphology	0	CXCR4 CL E G H	7852	2561	ORPHA:51636	WHIM syndrome		9
HP:0000197	HP:0000197	Abnormal parotid gland morphology	0	FGF10 CL E G H	2255	3666	OMIM:149730	Lacrimoauriculodentodigital syndrome		17
HP:0000197	HP:0000197	Abnormal parotid gland morphology	0	FGFR2 CL E G H	2263	3689	OMIM:149730	Lacrimoauriculodentodigital syndrome		175
HP:0000197	HP:0000197	Abnormal parotid gland morphology	0	FGFR3 CL E G H	2261	3690	OMIM:149730	Lacrimoauriculodentodigital syndrome		145
HP:0000197	HP:0000197	Abnormal parotid gland morphology	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis		2
HP:0000197	HP:0000197	Abnormal parotid gland morphology	0	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms		20
HP:0000197	HP:0000197	Abnormal parotid gland morphology	0	TCOF1 CL E G H	6949	11654	OMIM:154500	Treacher collins-franceschetti syndrome	.	140
HP:0000197	HP:0000197	Abnormal parotid gland morphology	0	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3		140
HP:0000197	HP:0011801	Enlargement of parotid gland	1	ATP2A2 CL E G H	488	812	OMIM:124200	Darier-White disease	.	86
HP:0000197	HP:0011850	Parotitis	1	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis	HP:0040283 - Occasional	1
HP:0000197	HP:0011801	Enlargement of parotid gland	1	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis	HP:0040283 - Occasional	1
HP:0000197	HP:0011850	Parotitis	1	CXCR4 CL E G H	7852	2561	ORPHA:51636	WHIM syndrome	HP:0040284 - Very rare	9
HP:0000197	HP:0009740	Aplasia of the parotid gland	1	FGF10 CL E G H	2255	3666	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	17
HP:0000197	HP:0000198	Absence of Stensen duct	1	FGF10 CL E G H	2255	3666	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	17
HP:0000197	HP:0009740	Aplasia of the parotid gland	1	FGFR2 CL E G H	2263	3689	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	175
HP:0000197	HP:0000198	Absence of Stensen duct	1	FGFR2 CL E G H	2263	3689	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	175
HP:0000197	HP:0009740	Aplasia of the parotid gland	1	FGFR3 CL E G H	2261	3690	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	145
HP:0000197	HP:0000198	Absence of Stensen duct	1	FGFR3 CL E G H	2261	3690	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	145
HP:0000197	HP:0011850	Parotitis	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis	HP:0040283 - Occasional	2
HP:0000197	HP:0011801	Enlargement of parotid gland	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis	HP:0040283 - Occasional	2
HP:0000197	HP:0011850	Parotitis	1	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms		20
HP:0000197	HP:0000198	Absence of Stensen duct	1	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3	.	140

Genes (10) :ATP2A2 BTNL2 CXCR4 FGF10 FGFR2 FGFR3 HLA-DRB1 PSMB8 TCOF1 TP63

Diseases (7) :OMIM:124200 ORPHA:797 ORPHA:51636 OMIM:149730 OMIM:256040 OMIM:154500 OMIM:604292

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

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