Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the eye (HP:0000478)help
Parent Node:
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Abnormal eye physiology (HP:0012373)help
..Starting node
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Lacrimation abnormality (HP:0000632)help
Term ID: 632
Name: Lacrimation abnormality
Synonym: Abnormality of tear production
Definition: Abnormality of tear production.
Comments:
Reference: HP:0000632
Genes and Diseases:
 
       Child Nodes:
........expandDecreased lacrimation (HP:0000633) help
................... HP:0000522 Alacrima
........expandEpiphora (HP:0009926) help
................... HP:0031731 Increased tear production
................... HP:0031734 Lacrimal pump failure
................... HP:0031881 Decreased tear drainage
........expandGustatory lacrimation (HP:0100274) help

 Sister Nodes: 
..expandAbnormal extraocular muscle physiology (HP:0025590) help
..expandAbnormal eyelid physiology (HP:0031879) help
..expandAbnormal intraocular pressure (HP:0012632) help
..expandAbnormal pupillary function (HP:0007686) help
..expandAbnormal visual accommodation (HP:0030800) help
..expandAbnormal visual electrophysiology (HP:0030453) help
..expandAbnormality of eye movement (HP:0000496) help
..expandAbnormality of refraction (HP:0000539) help
..expandAbnormality of vision (HP:0000504) help
..expandAsthenopia (HP:0031590) help
..expandCongenital stationary cone dysfunction (HP:0030637) help
..expandGlaucoma (HP:0000501) help
..expandHemorrhage of the eye (HP:0011885) help
..expandInflammatory abnormality of the eye (HP:0100533) help
..expandOcular pain (HP:0200026) help
..expandPtosis (HP:0000508) help
..expandStaring gaze (HP:0025401) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0000632HP:0000632Lacrimation abnormality0EYA1 CL E G H2138113650Melnick-Fraser syndrome113650C0265234OMIM12213553519601653
HP:0000632HP:0000632Lacrimation abnormality0LIFR CL E G H39773206ORPHA1325486597151443
HP:0000632HP:0000632Lacrimation abnormality0PAX3 CL E G H5077894ORPHA11532458617606597
HP:0000632HP:0000632Lacrimation abnormality0SCN9A CL E G H6335167400Paroxysmal extreme pain disorder167400C1833661OMIM1129142710597603415
HP:0000632HP:0000632Lacrimation abnormality0SIX1 CL E G H6495113650Melnick-Fraser syndrome113650C0265234OMIM12012710887601205
HP:0000632HP:0000632Lacrimation abnormality0TP63 CL E G H86261896Dominant cleft palateORPHA112836915979603273
HP:0000632HP:0000632Lacrimation abnormality0UBR1 CL E G H1971312315Fetal warfarin syndromeORPHA17114416808605981
HP:0000632HP:0000632Lacrimation abnormality1EYA1 CL E G H2138113650Melnick-Fraser syndrome113650C0265234OMIM12213553519601653
HP:0000632HP:0000632Lacrimation abnormality1LIFR CL E G H39773206ORPHA1325486597151443
HP:0000632HP:0000632Lacrimation abnormality1PAX3 CL E G H5077894ORPHA11532458617606597
HP:0000632HP:0000632Lacrimation abnormality1SCN9A CL E G H6335167400Paroxysmal extreme pain disorder167400C1833661OMIM1129142710597603415
HP:0000632HP:0000632Lacrimation abnormality1SIX1 CL E G H6495113650Melnick-Fraser syndrome113650C0265234OMIM12012710887601205
HP:0000632HP:0000632Lacrimation abnormality1TP63 CL E G H86261896Dominant cleft palateORPHA112836915979603273
HP:0000632HP:0000632Lacrimation abnormality1UBR1 CL E G H1971312315Fetal warfarin syndromeORPHA17114416808605981
HP:0000632HP:0000632Lacrimation abnormality2EYA1 CL E G H2138113650Melnick-Fraser syndrome113650C0265234OMIM12213553519601653
HP:0000632HP:0000632Lacrimation abnormality2LIFR CL E G H39773206ORPHA1325486597151443
HP:0000632HP:0000632Lacrimation abnormality2PAX3 CL E G H5077894ORPHA11532458617606597
HP:0000632HP:0000632Lacrimation abnormality2SCN9A CL E G H6335167400Paroxysmal extreme pain disorder167400C1833661OMIM1129142710597603415
HP:0000632HP:0000632Lacrimation abnormality2SIX1 CL E G H6495113650Melnick-Fraser syndrome113650C0265234OMIM12012710887601205
HP:0000632HP:0000632Lacrimation abnormality2TP63 CL E G H86261896Dominant cleft palateORPHA112836915979603273
HP:0000632HP:0000632Lacrimation abnormality2UBR1 CL E G H1971312315Fetal warfarin syndromeORPHA17114416808605981
HP:0000632HP:0000632Lacrimation abnormality3EYA1 CL E G H2138113650Melnick-Fraser syndrome113650C0265234OMIM12213553519601653
HP:0000632HP:0000632Lacrimation abnormality3LIFR CL E G H39773206ORPHA1325486597151443
HP:0000632HP:0000632Lacrimation abnormality3PAX3 CL E G H5077894ORPHA11532458617606597
HP:0000632HP:0000632Lacrimation abnormality3SCN9A CL E G H6335167400Paroxysmal extreme pain disorder167400C1833661OMIM1129142710597603415
HP:0000632HP:0000632Lacrimation abnormality3SIX1 CL E G H6495113650Melnick-Fraser syndrome113650C0265234OMIM12012710887601205
HP:0000632HP:0000632Lacrimation abnormality3TP63 CL E G H86261896Dominant cleft palateORPHA112836915979603273
HP:0000632HP:0000632Lacrimation abnormality3UBR1 CL E G H1971312315Fetal warfarin syndromeORPHA17114416808605981
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000632HP:0000632Lacrimation abnormality0ARID1A CL E G H82891465ORPHA03633611110603024
HP:0000632HP:0000632Lacrimation abnormality0ARID1B CL E G H574921465ORPHA018881518040614556
HP:0000632HP:0000632Lacrimation abnormality0ARID2 CL E G H1965281465ORPHA01116918037609539
HP:0000632HP:0000632Lacrimation abnormality0BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA05190961605681
HP:0000632HP:0000632Lacrimation abnormality0CHD7 CL E G H55636138ORPHA0884167220626608892
HP:0000632HP:0000632Lacrimation abnormality0CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA011762586603432
HP:0000632HP:0000632Lacrimation abnormality0DPF2 CL E G H59771465ORPHA09339964601671
HP:0000632HP:0000632Lacrimation abnormality0ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA01276313327130160
HP:0000632HP:0000632Lacrimation abnormality0GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA011584659601679
HP:0000632HP:0000632Lacrimation abnormality0GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA062104661604318
HP:0000632HP:0000632Lacrimation abnormality0LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA071956613601329
HP:0000632HP:0000632Lacrimation abnormality0OCRL CL E G H4952534Acute myeloblastic leukemia without maturationORPHA02644188108300535
HP:0000632HP:0000632Lacrimation abnormality0RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA041749970600404
HP:0000632HP:0000632Lacrimation abnormality0SEMA3E CL E G H9723138ORPHA0432710727608166
HP:0000632HP:0000632Lacrimation abnormality0SMARCA4 CL E G H65971465ORPHA057303811100603254
HP:0000632HP:0000632Lacrimation abnormality0SMARCB1 CL E G H65981465ORPHA011963711103601607
HP:0000632HP:0000632Lacrimation abnormality0SMARCE1 CL E G H66051465ORPHA01341311109603111
HP:0000632HP:0000632Lacrimation abnormality0SOX11 CL E G H66641465ORPHA0148911191600898
HP:0000632HP:0000632Lacrimation abnormality0TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA016111586605842
HP:0000632HP:0000632Lacrimation abnormality0TWIST2 CL E G H1175811807ORPHA099120670607556
HP:0000632HP:0000632Lacrimation abnormality1ARID1A CL E G H82891465ORPHA03633611110603024
HP:0000632HP:0000632Lacrimation abnormality1ARID1B CL E G H574921465ORPHA018881518040614556
HP:0000632HP:0000632Lacrimation abnormality1ARID2 CL E G H1965281465ORPHA01116918037609539
HP:0000632HP:0000632Lacrimation abnormality1BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA05190961605681
HP:0000632HP:0000632Lacrimation abnormality1CHD7 CL E G H55636138ORPHA0884167220626608892
HP:0000632HP:0000632Lacrimation abnormality1CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA011762586603432
HP:0000632HP:0000632Lacrimation abnormality1DPF2 CL E G H59771465ORPHA09339964601671
HP:0000632HP:0000632Lacrimation abnormality1ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA01276313327130160
HP:0000632HP:0000632Lacrimation abnormality1GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA011584659601679
HP:0000632HP:0000632Lacrimation abnormality1GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA062104661604318
HP:0000632HP:0000632Lacrimation abnormality1LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA071956613601329
HP:0000632HP:0000632Lacrimation abnormality1OCRL CL E G H4952534Acute myeloblastic leukemia without maturationORPHA02644188108300535
HP:0000632HP:0000632Lacrimation abnormality1RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA041749970600404
HP:0000632HP:0000632Lacrimation abnormality1SEMA3E CL E G H9723138ORPHA0432710727608166
HP:0000632HP:0000632Lacrimation abnormality1SMARCA4 CL E G H65971465ORPHA057303811100603254
HP:0000632HP:0000632Lacrimation abnormality1SMARCB1 CL E G H65981465ORPHA011963711103601607
HP:0000632HP:0000632Lacrimation abnormality1SMARCE1 CL E G H66051465ORPHA01341311109603111
HP:0000632HP:0000632Lacrimation abnormality1SOX11 CL E G H66641465ORPHA0148911191600898
HP:0000632HP:0000632Lacrimation abnormality1TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA016111586605842
HP:0000632HP:0000632Lacrimation abnormality1TWIST2 CL E G H1175811807ORPHA099120670607556
HP:0000632HP:0000632Lacrimation abnormality2ARID1A CL E G H82891465ORPHA03633611110603024
HP:0000632HP:0000632Lacrimation abnormality2ARID1B CL E G H574921465ORPHA018881518040614556
HP:0000632HP:0000632Lacrimation abnormality2ARID2 CL E G H1965281465ORPHA01116918037609539
HP:0000632HP:0000632Lacrimation abnormality2BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA05190961605681
HP:0000632HP:0000632Lacrimation abnormality2CHD7 CL E G H55636138ORPHA0884167220626608892
HP:0000632HP:0000632Lacrimation abnormality2CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA011762586603432
HP:0000632HP:0000632Lacrimation abnormality2DPF2 CL E G H59771465ORPHA09339964601671
HP:0000632HP:0000632Lacrimation abnormality2ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA01276313327130160
HP:0000632HP:0000632Lacrimation abnormality2GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA011584659601679
HP:0000632HP:0000632Lacrimation abnormality2GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA062104661604318
HP:0000632HP:0000632Lacrimation abnormality2LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA071956613601329
HP:0000632HP:0000632Lacrimation abnormality2OCRL CL E G H4952534Acute myeloblastic leukemia without maturationORPHA02644188108300535
HP:0000632HP:0000632Lacrimation abnormality2RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA041749970600404
HP:0000632HP:0000632Lacrimation abnormality2SEMA3E CL E G H9723138ORPHA0432710727608166
HP:0000632HP:0000632Lacrimation abnormality2SMARCA4 CL E G H65971465ORPHA057303811100603254
HP:0000632HP:0000632Lacrimation abnormality2SMARCB1 CL E G H65981465ORPHA011963711103601607
HP:0000632HP:0000632Lacrimation abnormality2SMARCE1 CL E G H66051465ORPHA01341311109603111
HP:0000632HP:0000632Lacrimation abnormality2SOX11 CL E G H66641465ORPHA0148911191600898
HP:0000632HP:0000632Lacrimation abnormality2TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA016111586605842
HP:0000632HP:0000632Lacrimation abnormality2TWIST2 CL E G H1175811807ORPHA099120670607556
HP:0000632HP:0000632Lacrimation abnormality3ARID1A CL E G H82891465ORPHA03633611110603024
HP:0000632HP:0000632Lacrimation abnormality3ARID1B CL E G H574921465ORPHA018881518040614556
HP:0000632HP:0000632Lacrimation abnormality3ARID2 CL E G H1965281465ORPHA01116918037609539
HP:0000632HP:0000632Lacrimation abnormality3BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA05190961605681
HP:0000632HP:0000632Lacrimation abnormality3CHD7 CL E G H55636138ORPHA0884167220626608892
HP:0000632HP:0000632Lacrimation abnormality3CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA011762586603432
HP:0000632HP:0000632Lacrimation abnormality3DPF2 CL E G H59771465ORPHA09339964601671
HP:0000632HP:0000632Lacrimation abnormality3ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA01276313327130160
HP:0000632HP:0000632Lacrimation abnormality3GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA011584659601679
HP:0000632HP:0000632Lacrimation abnormality3GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA062104661604318
HP:0000632HP:0000632Lacrimation abnormality3LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA071956613601329
HP:0000632HP:0000632Lacrimation abnormality3OCRL CL E G H4952534Acute myeloblastic leukemia without maturationORPHA02644188108300535
HP:0000632HP:0000632Lacrimation abnormality3RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA041749970600404
HP:0000632HP:0000632Lacrimation abnormality3SEMA3E CL E G H9723138ORPHA0432710727608166
HP:0000632HP:0000632Lacrimation abnormality3SMARCA4 CL E G H65971465ORPHA057303811100603254
HP:0000632HP:0000632Lacrimation abnormality3SMARCB1 CL E G H65981465ORPHA011963711103601607
HP:0000632HP:0000632Lacrimation abnormality3SMARCE1 CL E G H66051465ORPHA01341311109603111
HP:0000632HP:0000632Lacrimation abnormality3SOX11 CL E G H66641465ORPHA0148911191600898
HP:0000632HP:0000632Lacrimation abnormality3TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA016111586605842
HP:0000632HP:0000632Lacrimation abnormality3TWIST2 CL E G H1175811807ORPHA099120670607556


Genes (57) :AAAS ALX4 ARID1A ARID1B ARID2 BAZ1B CHD7 CLIP2 COL17A1 DKC1 DPF2 DST ELN ELP1 ERCC6 ERCC8 EYA1 FGF10 FGFR2 FGFR3 GMPPA GTF2I GTF2IRD1 IGSF3 KRT12 KRT3 LIFR LIMK1 LRP1 NGLY1 NHP2 NLRP3 NOP10 OCRL OVOL2 PAX1 PAX3 PLG RFC2 SCN9A SDHD SEMA3E SEMA4A SETBP1 SIX1 SLC39A14 SMARCA4 SMARCB1 SMARCE1 SOX10 SOX11 TBL2 TINF2 TP63 TRAPPC11 TWIST2 UBR1

Diseases (39) :1465 904 138 113650 3206 534 894 167400 1896 1807 2315 613451 122400 305000 133540 216400 149700 122100 604093 224230 148200 122000 97231 100093 610283 144755 163746 613990 231550 614653 1764 223900 149730 615510 615273 615560 798 609136 615356
 

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