Human Phenotype Ontology 
Grandparent Node:
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Abnormal lacrimal gland morphology (HP:0011482)help
Parent Node:
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Aplastic/hypoplastic lacrimal glands (HP:0008038)help
..Starting node
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Lacrimal gland aplasia (HP:0007656)help
Term ID: 7656
Name: Lacrimal gland aplasia
Synonym: Absent tear gland
Definition: A congenital defect of development characterized by absence of the lacrimal gland.
Comments:
Reference: HP:0007656
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandLacrimal gland hypoplasia (HP:0007732) 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:0007656HP:0007656Lacrimal gland aplasia0FGF10 CL E G H22553666OMIM:180920Aplasia of lacrimal and salivary glands.17
HP:0007656HP:0007656Lacrimal gland aplasia0FGF10 CL E G H22553666OMIM:149730Lacrimoauriculodentodigital syndrome.17
HP:0007656HP:0007656Lacrimal gland aplasia0FGF10 CL E G H22553666ORPHA:2363Lacrimoauriculodentodigital syndromeHP:0040283 - Occasional17
HP:0007656HP:0007656Lacrimal gland aplasia0FGFR2 CL E G H22633689OMIM:149730Lacrimoauriculodentodigital syndrome.175
HP:0007656HP:0007656Lacrimal gland aplasia0FGFR2 CL E G H22633689ORPHA:2363Lacrimoauriculodentodigital syndromeHP:0040283 - Occasional175
HP:0007656HP:0007656Lacrimal gland aplasia0FGFR3 CL E G H22613690OMIM:149730Lacrimoauriculodentodigital syndrome.145
HP:0007656HP:0007656Lacrimal gland aplasia0FGFR3 CL E G H22613690ORPHA:2363Lacrimoauriculodentodigital syndromeHP:0040283 - Occasional145
HP:0007656HP:0007656Lacrimal gland aplasia0FOXL2 CL E G H6681092ORPHA:572333Blepharophimosis-ptosis-epicanthus inversus syndrome plusHP:0040282 - Frequent92


Genes (4) :FGF10 FGFR2 FGFR3 FOXL2

Diseases (4) :OMIM:180920 OMIM:149730 ORPHA:2363 ORPHA:572333
 

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