Human Phenotype Ontology 
Grandparent Node:
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Abnormal nasolacrimal system morphology (HP:0000614)help
Parent Node:
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Abnormal lacrimal duct morphology (HP:0011481)help
..Starting node
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Lacrimal duct atresia (HP:0000564)help
Term ID: 564
Name: Lacrimal duct atresia
Synonym: Imperforate nasolacrimal ducts; Nasolacrimal duct atresia; Unopened tear duct
Definition: A developmental disorder of the lacrimal drainage system that most often affects the lacrimal ostium and resulting in non-opening of the nasolacrimal duct. It usually results from a non-canalization of the nasolacrimal duct.
Comments:
Reference: HP:0000564
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandHypoplastic lacrimal duct (HP:0007900) help
..expandLacrimal duct aplasia (HP:0007925) help
..expandMalformed lacrimal duct (HP:0007993) help
..expandNasolacrimal duct obstruction (HP:0000579) 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:0000564HP:0000564Lacrimal duct atresia0IGSF3 CL E G H33215950OMIM:149700Lacrimal duct defect.3
HP:0000564HP:0000564Lacrimal duct atresia0NDUFB11 CL E G H5453920372OMIM:300952Linear skin defects with multiple congenital anomalies 3.3
HP:0000564HP:0000564Lacrimal duct atresia0PAX3 CL E G H50778617ORPHA:1529Craniofacial-deafness-hand syndromeHP:0040281 - Very frequent59
HP:0000564HP:0000564Lacrimal duct atresia0SMCHD1 CL E G H2334729090OMIM:603457Bosma arhinia microphthalmia syndrome174
HP:0000564HP:0000564Lacrimal duct atresia0TP63 CL E G H862615979OMIM:106260Ankyloblepharon-Ectodermal defects-cleft lip/palate.140
HP:0000564HP:0000564Lacrimal duct atresia0TP63 CL E G H862615979ORPHA:69085Limb-mammary syndromeHP:0040282 - Frequent140
HP:0000564HP:0000564Lacrimal duct atresia0TP63 CL E G H862615979OMIM:603543Limb-Mammary syndrome.140


Genes (5) :IGSF3 NDUFB11 PAX3 SMCHD1 TP63

Diseases (7) :OMIM:149700 OMIM:300952 ORPHA:1529 OMIM:603457 OMIM:106260 ORPHA:69085 OMIM:603543
 

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