Human Phenotype Ontology

About
MSeqDR-LSDB
Tools
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- Quick-Mitome
- Quick-Mitome-Report
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome
- Disease Portal
- HPO Ontology Browser
- Core Symptoms (draft)
- NAMDC-HPO Mapping (retired)
- Expert Panel
- Clinical
- Overview
- Leigh Syndrome Resource
Collaboration
Submission

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 eye physiology (HP:0012373)

Parent Node:
Lacrimation abnormality (HP:0000632)

..Starting node
..Epiphora (HP:0009926)

Term ID:

9926

Name:

Epiphora

Synonym:

Increased lacrimation; Increased tears; Tearing; Watery eyes

Definition:

Abnormally increased lacrimation, that is, excessive tearing (watering eye).

Comments:

Reference:

HP:0009926

Genes and Diseases:

Child Nodes:

........

Increased tear production (HP:0031731)

................... HP:0031732 Increased basal tear production
................... HP:0031733 Reflex tearing

........

Lacrimal pump failure (HP:0031734)

........

Decreased tear drainage (HP:0031881)

Sister Nodes:

Decreased lacrimation (HP:0000633)

Gustatory lacrimation (HP:0100274)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	HGMD variants	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0009926	HP:0009926	Epiphora	0	COL17A1 CL E G H	1308	122400	Epithelial recurrent erosion dystrophy	122400	C1852551	OMIM	1	114	259	2194	113811
HP:0009926	HP:0009926	Epiphora	0	DKC1 CL E G H	1736	305000	Dyskeratosis congenita X-linked	305000	C1148551	OMIM	1	75	322	2890	300126
HP:0009926	HP:0009926	Epiphora	0	IGSF3 CL E G H	3321	149700	Lacrimal duct defect	149700	C1835612	OMIM	1	2	21	5950	603491
HP:0009926	HP:0009926	Epiphora	0	KRT12 CL E G H	3859	122100	Meesman's corneal dystrophy	122100	C0339277	OMIM	1	25	35	6414	601687
HP:0009926	HP:0009926	Epiphora	0	KRT3 CL E G H	3850	122100	Meesman's corneal dystrophy	122100	C0339277	OMIM	1	4	26	6440	148043
HP:0009926	HP:0009926	Epiphora	0	LRP1 CL E G H	4035	604093	Keratosis pilaris	604093	C0263383	OMIM	1	27	103	6692	107770
HP:0009926	HP:0009926	Epiphora	0	NHP2 CL E G H	55651	224230	Dyskeratosis congenita autosomal recessive 1	224230	C1857144	OMIM	1	3	92	14377	606470
HP:0009926	HP:0009926	Epiphora	0	NLRP3 CL E G H	114548	148200	Keratitis fugax hereditaria	148200	C1835697	OMIM	1	142	488	16400	606416
HP:0009926	HP:0009926	Epiphora	0	NOP10 CL E G H	55505	224230	Dyskeratosis congenita autosomal recessive 1	224230	C1857144	OMIM	1	1	60	14378	606471
HP:0009926	HP:0009926	Epiphora	0	OVOL2 CL E G H	58495	122000	Posterior polymorphous corneal dystrophy 1	122000	CN029625	OMIM	1	4	28	15804	616441
HP:0009926	HP:0009926	Epiphora	0	PLG CL E G H	5340	97231				ORPHA	1	78	85	9071	173350
HP:0009926	HP:0009926	Epiphora	0	SEMA4A CL E G H	64218	610283	Cone-rod dystrophy 10	610283	C1846529	OMIM	1	17	140	10729	607292
HP:0009926	HP:0009926	Epiphora	0	TINF2 CL E G H	26277	613990	Dyskeratosis congenita, autosomal dominant, 3	613990	C3151445	OMIM	1	42	165	11824	604319
HP:0009926	HP:0009926	Epiphora	1	COL17A1 CL E G H	1308	122400	Epithelial recurrent erosion dystrophy	122400	C1852551	OMIM	1	114	259	2194	113811
HP:0009926	HP:0009926	Epiphora	1	DKC1 CL E G H	1736	305000	Dyskeratosis congenita X-linked	305000	C1148551	OMIM	1	75	322	2890	300126
HP:0009926	HP:0009926	Epiphora	1	IGSF3 CL E G H	3321	149700	Lacrimal duct defect	149700	C1835612	OMIM	1	2	21	5950	603491
HP:0009926	HP:0009926	Epiphora	1	KRT12 CL E G H	3859	122100	Meesman's corneal dystrophy	122100	C0339277	OMIM	1	25	35	6414	601687
HP:0009926	HP:0009926	Epiphora	1	KRT3 CL E G H	3850	122100	Meesman's corneal dystrophy	122100	C0339277	OMIM	1	4	26	6440	148043
HP:0009926	HP:0009926	Epiphora	1	LRP1 CL E G H	4035	604093	Keratosis pilaris	604093	C0263383	OMIM	1	27	103	6692	107770
HP:0009926	HP:0009926	Epiphora	1	NHP2 CL E G H	55651	224230	Dyskeratosis congenita autosomal recessive 1	224230	C1857144	OMIM	1	3	92	14377	606470
HP:0009926	HP:0009926	Epiphora	1	NLRP3 CL E G H	114548	148200	Keratitis fugax hereditaria	148200	C1835697	OMIM	1	142	488	16400	606416
HP:0009926	HP:0009926	Epiphora	1	NOP10 CL E G H	55505	224230	Dyskeratosis congenita autosomal recessive 1	224230	C1857144	OMIM	1	1	60	14378	606471
HP:0009926	HP:0009926	Epiphora	1	OVOL2 CL E G H	58495	122000	Posterior polymorphous corneal dystrophy 1	122000	CN029625	OMIM	1	4	28	15804	616441
HP:0009926	HP:0009926	Epiphora	1	PLG CL E G H	5340	97231				ORPHA	1	78	85	9071	173350
HP:0009926	HP:0009926	Epiphora	1	SEMA4A CL E G H	64218	610283	Cone-rod dystrophy 10	610283	C1846529	OMIM	1	17	140	10729	607292
HP:0009926	HP:0009926	Epiphora	1	TINF2 CL E G H	26277	613990	Dyskeratosis congenita, autosomal dominant, 3	613990	C3151445	OMIM	1	42	165	11824	604319
HP:0009926	HP:0009926	Epiphora	2	COL17A1 CL E G H	1308	122400	Epithelial recurrent erosion dystrophy	122400	C1852551	OMIM	1	114	259	2194	113811
HP:0009926	HP:0009926	Epiphora	2	DKC1 CL E G H	1736	305000	Dyskeratosis congenita X-linked	305000	C1148551	OMIM	1	75	322	2890	300126
HP:0009926	HP:0009926	Epiphora	2	IGSF3 CL E G H	3321	149700	Lacrimal duct defect	149700	C1835612	OMIM	1	2	21	5950	603491
HP:0009926	HP:0009926	Epiphora	2	KRT12 CL E G H	3859	122100	Meesman's corneal dystrophy	122100	C0339277	OMIM	1	25	35	6414	601687
HP:0009926	HP:0009926	Epiphora	2	KRT3 CL E G H	3850	122100	Meesman's corneal dystrophy	122100	C0339277	OMIM	1	4	26	6440	148043
HP:0009926	HP:0009926	Epiphora	2	LRP1 CL E G H	4035	604093	Keratosis pilaris	604093	C0263383	OMIM	1	27	103	6692	107770
HP:0009926	HP:0009926	Epiphora	2	NHP2 CL E G H	55651	224230	Dyskeratosis congenita autosomal recessive 1	224230	C1857144	OMIM	1	3	92	14377	606470
HP:0009926	HP:0009926	Epiphora	2	NLRP3 CL E G H	114548	148200	Keratitis fugax hereditaria	148200	C1835697	OMIM	1	142	488	16400	606416
HP:0009926	HP:0009926	Epiphora	2	NOP10 CL E G H	55505	224230	Dyskeratosis congenita autosomal recessive 1	224230	C1857144	OMIM	1	1	60	14378	606471
HP:0009926	HP:0009926	Epiphora	2	OVOL2 CL E G H	58495	122000	Posterior polymorphous corneal dystrophy 1	122000	CN029625	OMIM	1	4	28	15804	616441
HP:0009926	HP:0009926	Epiphora	2	PLG CL E G H	5340	97231				ORPHA	1	78	85	9071	173350
HP:0009926	HP:0009926	Epiphora	2	SEMA4A CL E G H	64218	610283	Cone-rod dystrophy 10	610283	C1846529	OMIM	1	17	140	10729	607292
HP:0009926	HP:0009926	Epiphora	2	TINF2 CL E G H	26277	613990	Dyskeratosis congenita, autosomal dominant, 3	613990	C3151445	OMIM	1	42	165	11824	604319
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0009926	HP:0009926	Epiphora	0	SDHD CL E G H	6392	100093				ORPHA	0	174	361	10683	602690
HP:0009926	HP:0009926	Epiphora	0	SLC39A14 CL E G H	23516	144755	Hyperostosis cranialis interna	144755	C1840404	OMIM	0	9	103	20858	608736
HP:0009926	HP:0009926	Epiphora	1	SDHD CL E G H	6392	100093				ORPHA	0	174	361	10683	602690
HP:0009926	HP:0009926	Epiphora	1	SLC39A14 CL E G H	23516	144755	Hyperostosis cranialis interna	144755	C1840404	OMIM	0	9	103	20858	608736
HP:0009926	HP:0009926	Epiphora	2	SDHD CL E G H	6392	100093				ORPHA	0	174	361	10683	602690
HP:0009926	HP:0009926	Epiphora	2	SLC39A14 CL E G H	23516	144755	Hyperostosis cranialis interna	144755	C1840404	OMIM	0	9	103	20858	608736

Genes (15) :COL17A1 DKC1 IGSF3 KRT12 KRT3 LRP1 NHP2 NLRP3 NOP10 OVOL2 PLG SDHD SEMA4A SLC39A14 TINF2

Diseases (13) :122400 305000 149700 122100 604093 224230 148200 122000 97231 100093 610283 144755 613990

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is June 2019 release.

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen