Human Phenotype Ontology 
Grandparent Node:
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Abnormal eye physiology (HP:0012373)help
Parent Node:
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Lacrimation abnormality (HP:0000632)help
..Starting node
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Epiphora (HP:0009926)help
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:
........expandIncreased tear production (HP:0031731) help
................... HP:0031732 Increased basal tear production
................... HP:0031733 Reflex tearing
........expandLacrimal pump failure (HP:0031734) help
........expandDecreased tear drainage (HP:0031881) help

 Sister Nodes: 
..expandDecreased lacrimation (HP:0000633) help
..expandGustatory lacrimation (HP:0100274) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0009926HP:0009926Epiphora0ATOH7 CL E G H22020213907ORPHA:91495Persistent hyperplastic primary vitreous4
HP:0009926HP:0009926Epiphora0COL17A1 CL E G H13082194ORPHA:293381Epithelial recurrent erosion dystrophyHP:0040283 - Occasional129
HP:0009926HP:0009926Epiphora0COL17A1 CL E G H13082194OMIM:122400Epithelial recurrent erosion dystrophy.129
HP:0009926HP:0009926Epiphora0DKC1 CL E G H17362890OMIM:305000Dyskeratosis congenita, X-linked.65
HP:0009926HP:0009926Epiphora0FGF10 CL E G H22553666ORPHA:2363Lacrimoauriculodentodigital syndromeHP:0040282 - Frequent17
HP:0009926HP:0009926Epiphora0FGFR2 CL E G H22633689ORPHA:2363Lacrimoauriculodentodigital syndromeHP:0040282 - Frequent175
HP:0009926HP:0009926Epiphora0FGFR3 CL E G H22613690ORPHA:2363Lacrimoauriculodentodigital syndromeHP:0040282 - Frequent145
HP:0009926HP:0009926Epiphora0FZD4 CL E G H83224042ORPHA:91495Persistent hyperplastic primary vitreous109
HP:0009926HP:0009926Epiphora0HLA-DRB1 CL E G H31234948OMIM:181000Sarcoidosis, susceptibility to, 1.2
HP:0009926HP:0009926Epiphora0IGSF3 CL E G H33215950OMIM:149700Lacrimal duct defect3
HP:0009926HP:0009926Epiphora0KRT12 CL E G H38596414OMIM:122100Meesmann corneal dystrophy 1.22
HP:0009926HP:0009926Epiphora0KRT3 CL E G H38506440OMIM:618767CORNEAL DYSTROPHY, MEESMANN, 2; MECD23
HP:0009926HP:0009926Epiphora0LRP1 CL E G H40356692OMIM:604093Keratosis pilaris atrophicans4
HP:0009926HP:0009926Epiphora0NDP CL E G H46937678ORPHA:91495Persistent hyperplastic primary vitreous39
HP:0009926HP:0009926Epiphora0NHP2 CL E G H5565114377OMIM:224230Dyskeratosis congenita, autosomal recessive 1.27
HP:0009926HP:0009926Epiphora0NLRP3 CL E G H11454816400OMIM:148200Keratoendotheliitis fugax hereditaria.217
HP:0009926HP:0009926Epiphora0NOP10 CL E G H5550514378OMIM:224230Dyskeratosis congenita, autosomal recessive 1.17
HP:0009926HP:0009926Epiphora0OVOL2 CL E G H5849515804OMIM:122000Corneal dystrophy, posterior polymorphous, 14
HP:0009926HP:0009926Epiphora0PARN CL E G H50738609OMIM:616353Dyskeratosis congenita, autosomal recessive 626
HP:0009926HP:0009926Epiphora0SDHD CL E G H639210683ORPHA:100093Carcinoid syndromeHP:0040283 - Occasional129
HP:0009926HP:0009926Epiphora0SEMA4A CL E G H6421810729OMIM:610283Cone-Rod dystrophy 10.48
HP:0009926HP:0009926Epiphora0SLC39A14 CL E G H2351620858OMIM:144755Hyperostosis cranialis internaHP:0040284 - Very rare5
HP:0009926HP:0009926Epiphora0SREBF1 CL E G H672011289OMIM:158310Mucoepithelial dysplasia, hereditary.1
HP:0009926HP:0009926Epiphora0TINF2 CL E G H2627711824OMIM:613990Dyskeratosis congenita, autosomal dominant 3.60
HP:0009926HP:0009926Epiphora0TYMS CL E G H729812441OMIM:6200401
HP:0009926HP:0031731Increased tear production1 CL E G H
HP:0009926HP:0031881Decreased tear drainage1 CL E G H
HP:0009926HP:0031734Lacrimal pump failure1 CL E G H
HP:0009926HP:0031732Increased basal tear production2 CL E G H
HP:0009926HP:0031733Reflex tearing2 CL E G H


Genes (24) :ATOH7 COL17A1 DKC1 FGF10 FGFR2 FGFR3 FZD4 HLA-DRB1 IGSF3 KRT12 KRT3 LRP1 NDP NHP2 NLRP3 NOP10 OVOL2 PARN SDHD SEMA4A SLC39A14 SREBF1 TINF2 TYMS

Diseases (20) :ORPHA:91495 ORPHA:293381 OMIM:122400 OMIM:305000 ORPHA:2363 OMIM:181000 OMIM:149700 OMIM:122100 OMIM:618767 OMIM:604093 OMIM:224230 OMIM:148200 OMIM:122000 OMIM:616353 ORPHA:100093 OMIM:610283 OMIM:144755 OMIM:158310 OMIM:613990 OMIM:620040
 

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