Human Phenotype Ontology 
Grandparent Node:
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Abnormal oral cavity morphology (HP:0000163)help
Parent Node:
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Abnormal palate morphology (HP:0000174)help
..Starting node
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Palate fistula (HP:0010294)help
Term ID: 10294
Name: Palate fistula
Synonym: Hole in roof of mouth; Palatal hole; Palatal perforation
Definition: A fistula which connects the oral cavity and the pharyngeal area via the aspects of the soft palate.
Comments:
Reference: HP:0010294
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormal hard palate morphology (HP:0100737) help
..expandAbnormal soft palate morphology (HP:0100736) help
..expandHigh palate (HP:0000218) help
..expandNarrow palate (HP:0000189) help
..expandPalatal edema (HP:0031089) help
..expandPalate telangiectasia (HP:0002707) help
..expandProminent median palatal raphe (HP:0002708) help
..expandProminent palatine ridges (HP:0010291) 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:0010294HP:0010294Palate fistula0ARHGAP29 CL E G H941130207ORPHA:199306Cleft lip/palateHP:0040283 - Occasional6
HP:0010294HP:0010294Palate fistula0BMP4 CL E G H6521071ORPHA:199306Cleft lip/palateHP:0040283 - Occasional38
HP:0010294HP:0010294Palate fistula0CDH1 CL E G H9991748ORPHA:199306Cleft lip/palateHP:0040283 - Occasional1003
HP:0010294HP:0010294Palate fistula0DLG1 CL E G H17392900ORPHA:199306Cleft lip/palateHP:0040283 - Occasional
HP:0010294HP:0010294Palate fistula0DLX4 CL E G H17482917ORPHA:199306Cleft lip/palateHP:0040283 - Occasional1
HP:0010294HP:0010294Palate fistula0DLX4 CL E G H17482917OMIM:616788Orofacial cleft 151
HP:0010294HP:0010294Palate fistula0IRF6 CL E G H36646121ORPHA:199306Cleft lip/palateHP:0040283 - Occasional99
HP:0010294HP:0010294Palate fistula0MSX1 CL E G H44877391ORPHA:199306Cleft lip/palateHP:0040283 - Occasional12
HP:0010294HP:0010294Palate fistula0NECTIN1 CL E G H58189706ORPHA:199306Cleft lip/palateHP:0040283 - Occasional4
HP:0010294HP:0010294Palate fistula0PDGFRA CL E G H51568803ORPHA:199306Cleft lip/palateHP:0040283 - Occasional337
HP:0010294HP:0010294Palate fistula0TP63 CL E G H862615979ORPHA:199306Cleft lip/palateHP:0040283 - Occasional140


Genes (10) :ARHGAP29 BMP4 CDH1 DLG1 DLX4 IRF6 MSX1 NECTIN1 PDGFRA TP63

Diseases (2) :ORPHA:199306 OMIM:616788
 

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