Human Phenotype Ontology 
Grandparent Node:
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Abnormal nasolacrimal system morphology (HP:0000614)help
Parent Node:
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Abnormal lacrimal punctum morphology (HP:0011479)help
..Starting node
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Absent lacrimal punctum (HP:0001092)help
Term ID: 1092
Name: Absent lacrimal punctum
Synonym: Absent lacrimal gland puncta; Absent lacrimal openings; Absent lacrimal puncta; Agenesis of the lacrimal punctum; Aplasia of lacrimal puncta; Lacrimal puncta aplasia; Lacrimal punctum, absence
Definition: No identifiable superior and/or inferior lacrimal punctum.
Comments:
Reference: HP:0001092
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandEctopic lacrimal punctum (HP:0010748) help
..expandHypoplasia of the lacrimal punctum (HP:0007892) help
..expandLacrimal punctal atresia (HP:0007820) help
..expandPunctal stenosis (HP:0025572) 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:0001092HP:0001092Absent lacrimal punctum0FGF10 CL E G H22553666OMIM:180920Aplasia of lacrimal and salivary glands.17
HP:0001092HP:0001092Absent lacrimal punctum0FGF10 CL E G H22553666ORPHA:2363Lacrimoauriculodentodigital syndromeHP:0040283 - Occasional17
HP:0001092HP:0001092Absent lacrimal punctum0FGF10 CL E G H22553666OMIM:149730Lacrimoauriculodentodigital syndrome.17
HP:0001092HP:0001092Absent lacrimal punctum0FGFR2 CL E G H22633689OMIM:149730Lacrimoauriculodentodigital syndrome.175
HP:0001092HP:0001092Absent lacrimal punctum0FGFR2 CL E G H22633689ORPHA:2363Lacrimoauriculodentodigital syndromeHP:0040283 - Occasional175
HP:0001092HP:0001092Absent lacrimal punctum0FGFR3 CL E G H22613690OMIM:149730Lacrimoauriculodentodigital syndrome.145
HP:0001092HP:0001092Absent lacrimal punctum0FGFR3 CL E G H22613690ORPHA:2363Lacrimoauriculodentodigital syndromeHP:0040283 - Occasional145
HP:0001092HP:0001092Absent lacrimal punctum0TP63 CL E G H862615979ORPHA:69085Limb-mammary syndromeHP:0040282 - Frequent140
HP:0001092HP:0001092Absent lacrimal punctum0TP63 CL E G H862615979OMIM:129400Rapp-Hodgkin syndrome.140
HP:0001092HP:0001092Absent lacrimal punctum0UBR1 CL E G H19713116808ORPHA:2315Johanson-Blizzard syndromeHP:0040282 - Frequent25
HP:0001092HP:0001092Absent lacrimal punctum0UBR1 CL E G H19713116808OMIM:243800Johanson-Blizzard syndrome.25


Genes (5) :FGF10 FGFR2 FGFR3 TP63 UBR1

Diseases (7) :OMIM:180920 ORPHA:2363 OMIM:149730 ORPHA:69085 OMIM:129400 ORPHA:2315 OMIM:243800
 

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