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 physiology (HP:0031815)

Parent Node:
Abnormality of salivation (HP:0100755)

..Starting node
..Xerostomia (HP:0000217)

Term ID:

217

Name:

Xerostomia

Synonym:

Decreased salivary flow; Dry mouth; Dry mouth syndrome; Reduced salivation

Definition:

Dryness of the mouth due to salivary gland dysfunction.

Comments:

Reference:

HP:0000217

Genes and Diseases:

Child Nodes:

Sister Nodes:

Excessive salivation (HP:0003781)

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:0000217	HP:0000217	Xerostomia	0	ANG CL E G H	283	483	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	32
HP:0000217	HP:0000217	Xerostomia	0	ANXA11 CL E G H	311	535	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent
HP:0000217	HP:0000217	Xerostomia	0	ATXN2 CL E G H	6311	10555	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	11
HP:0000217	HP:0000217	Xerostomia	0	C9ORF72 CL E G H	203228	28337	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	56
HP:0000217	HP:0000217	Xerostomia	0	CAV1 CL E G H	857	1527	ORPHA:220393	Diffuse cutaneous systemic sclerosis	HP:0040282 - Frequent	11
HP:0000217	HP:0000217	Xerostomia	0	CCN2 CL E G H	1490	2500	ORPHA:220393	Diffuse cutaneous systemic sclerosis	HP:0040282 - Frequent
HP:0000217	HP:0000217	Xerostomia	0	CCNF CL E G H	899	1591	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent
HP:0000217	HP:0000217	Xerostomia	0	CCR6 CL E G H	1235	1607	ORPHA:220393	Diffuse cutaneous systemic sclerosis	HP:0040282 - Frequent
HP:0000217	HP:0000217	Xerostomia	0	CFAP410 CL E G H	755	1260	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent
HP:0000217	HP:0000217	Xerostomia	0	CHCHD10 CL E G H	400916	15559	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	11
HP:0000217	HP:0000217	Xerostomia	0	CHMP2B CL E G H	25978	24537	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	42
HP:0000217	HP:0000217	Xerostomia	0	CHRM3 CL E G H	1131	1952	OMIM:100100	Prune belly syndrome	.	4
HP:0000217	HP:0000217	Xerostomia	0	CLDN10 CL E G H	9071	2033	OMIM:617671	Helix syndrome		3
HP:0000217	HP:0000217	Xerostomia	0	DAO CL E G H	1610	2671	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent
HP:0000217	HP:0000217	Xerostomia	0	DCTN1 CL E G H	1639	2711	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	86
HP:0000217	HP:0000217	Xerostomia	0	EDARADD CL E G H	128178	14341	OMIM:614941	Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive	.	56
HP:0000217	HP:0000217	Xerostomia	0	ELOVL1 CL E G H	64834	14418	OMIM:618527	Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features
HP:0000217	HP:0000217	Xerostomia	0	EPHA4 CL E G H	2043	3388	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	4
HP:0000217	HP:0000217	Xerostomia	0	ERBB4 CL E G H	2066	3432	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	15
HP:0000217	HP:0000217	Xerostomia	0	FGF10 CL E G H	2255	3666	OMIM:180920	Aplasia of lacrimal and salivary glands	.	17
HP:0000217	HP:0000217	Xerostomia	0	FGF10 CL E G H	2255	3666	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040282 - Frequent	17
HP:0000217	HP:0000217	Xerostomia	0	FGF10 CL E G H	2255	3666	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	17
HP:0000217	HP:0000217	Xerostomia	0	FGFR2 CL E G H	2263	3689	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	175
HP:0000217	HP:0000217	Xerostomia	0	FGFR2 CL E G H	2263	3689	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040282 - Frequent	175
HP:0000217	HP:0000217	Xerostomia	0	FGFR3 CL E G H	2261	3690	OMIM:149730	Lacrimoauriculodentodigital syndrome	.	145
HP:0000217	HP:0000217	Xerostomia	0	FGFR3 CL E G H	2261	3690	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040282 - Frequent	145
HP:0000217	HP:0000217	Xerostomia	0	FIG4 CL E G H	9896	16873	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	111
HP:0000217	HP:0000217	Xerostomia	0	FUS CL E G H	2521	4010	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	105
HP:0000217	HP:0000217	Xerostomia	0	GLE1 CL E G H	2733	4315	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	45
HP:0000217	HP:0000217	Xerostomia	0	GLT8D1 CL E G H	55830	24870	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent
HP:0000217	HP:0000217	Xerostomia	0	GSN CL E G H	2934	4620	ORPHA:85448	AGel amyloidosis	HP:0040282 - Frequent	53
HP:0000217	HP:0000217	Xerostomia	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:220393	Diffuse cutaneous systemic sclerosis	HP:0040282 - Frequent	2
HP:0000217	HP:0000217	Xerostomia	0	HNRNPA1 CL E G H	3178	5031	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	31
HP:0000217	HP:0000217	Xerostomia	0	IRF5 CL E G H	3663	6120	ORPHA:220393	Diffuse cutaneous systemic sclerosis	HP:0040282 - Frequent	4
HP:0000217	HP:0000217	Xerostomia	0	LBR CL E G H	3930	6518	ORPHA:779	Reynolds syndrome	HP:0040282 - Frequent	70
HP:0000217	HP:0000217	Xerostomia	0	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome	HP:0040283 - Occasional	63
HP:0000217	HP:0000217	Xerostomia	0	MATR3 CL E G H	9782	6912	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	80
HP:0000217	HP:0000217	Xerostomia	0	NEFH CL E G H	4744	7737	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	24
HP:0000217	HP:0000217	Xerostomia	0	NEK1 CL E G H	4750	7744	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	101
HP:0000217	HP:0000217	Xerostomia	0	NOD2 CL E G H	64127	5331	ORPHA:90340	Blau syndrome	HP:0040283 - Occasional	187
HP:0000217	HP:0000217	Xerostomia	0	NOD2 CL E G H	64127	5331	OMIM:617321	YAO SYNDROME; YAOS		187
HP:0000217	HP:0000217	Xerostomia	0	OPTN CL E G H	10133	17142	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	62
HP:0000217	HP:0000217	Xerostomia	0	PFN1 CL E G H	5216	8881	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	6
HP:0000217	HP:0000217	Xerostomia	0	PON1 CL E G H	5444	9204	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	4
HP:0000217	HP:0000217	Xerostomia	0	PON2 CL E G H	5445	9205	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	2
HP:0000217	HP:0000217	Xerostomia	0	PON3 CL E G H	5446	9206	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	1
HP:0000217	HP:0000217	Xerostomia	0	PPARGC1A CL E G H	10891	9237	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	1
HP:0000217	HP:0000217	Xerostomia	0	PRPH CL E G H	5630	9461	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	25
HP:0000217	HP:0000217	Xerostomia	0	SCN9A CL E G H	6335	10597	OMIM:133020	Erythermalgia, primary	.	318
HP:0000217	HP:0000217	Xerostomia	0	SIM1 CL E G H	6492	10882	ORPHA:398079	SIM1-related Prader-Willi-like syndrome	HP:0040283 - Occasional	40
HP:0000217	HP:0000217	Xerostomia	0	SLC12A2 CL E G H	6558	10911	OMIM:619080	KILQUIST SYNDROME; KILQS		2
HP:0000217	HP:0000217	Xerostomia	0	SOD1 CL E G H	6647	11179	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	53
HP:0000217	HP:0000217	Xerostomia	0	SQSTM1 CL E G H	8878	11280	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	62
HP:0000217	HP:0000217	Xerostomia	0	TAF15 CL E G H	8148	11547	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent
HP:0000217	HP:0000217	Xerostomia	0	TARDBP CL E G H	23435	11571	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	65
HP:0000217	HP:0000217	Xerostomia	0	TBK1 CL E G H	29110	11584	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	20
HP:0000217	HP:0000217	Xerostomia	0	TP63 CL E G H	8626	15979	OMIM:604292	Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3	.	140
HP:0000217	HP:0000217	Xerostomia	0	TP63 CL E G H	8626	15979	ORPHA:1896	EEC syndrome	HP:0040283 - Occasional	140
HP:0000217	HP:0000217	Xerostomia	0	TREM2 CL E G H	54209	17761	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	31
HP:0000217	HP:0000217	Xerostomia	0	UBQLN2 CL E G H	29978	12509	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	20
HP:0000217	HP:0000217	Xerostomia	0	UNC13A CL E G H	23025	23150	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	1
HP:0000217	HP:0000217	Xerostomia	0	VAPB CL E G H	9217	12649	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	116
HP:0000217	HP:0000217	Xerostomia	0	VCP CL E G H	7415	12666	ORPHA:803	Amyotrophic lateral sclerosis	HP:0040282 - Frequent	63

Genes (57) :ANG ANXA11 ATXN2 C9ORF72 CAV1 CCN2 CCNF CCR6 CFAP410 CHCHD10 CHMP2B CHRM3 CLDN10 DAO DCTN1 EDARADD ELOVL1 EPHA4 ERBB4 FGF10 FGFR2 FGFR3 FIG4 FUS GLE1 GLT8D1 GSN HLA-DRB1 HNRNPA1 IRF5 LBR MAGEL2 MATR3 NEFH NEK1 NOD2 OPTN PFN1 PON1 PON2 PON3 PPARGC1A PRPH SCN9A SIM1 SLC12A2 SOD1 SQSTM1 TAF15 TARDBP TBK1 TP63 TREM2 UBQLN2 UNC13A VAPB VCP

Diseases (19) :ORPHA:803 ORPHA:220393 OMIM:100100 OMIM:617671 OMIM:614941 OMIM:618527 OMIM:180920 ORPHA:2363 OMIM:149730 ORPHA:85448 ORPHA:779 ORPHA:398069 ORPHA:90340 OMIM:617321 OMIM:133020 ORPHA:398079 OMIM:619080 OMIM:604292 ORPHA:1896

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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