Human Phenotype Ontology 
Grandparent Node:
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Abnormal nervous system physiology (HP:0012638)help
Parent Node:
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Headache (HP:0002315)help
..Starting node
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Recurrent paroxysmal headache (HP:0002331)help
Term ID: 2331
Name: Recurrent paroxysmal headache
Synonym:
Definition: Repeated episodes of headache with rapid onset, reaching a peak within minutes and of short duration (less than one hour) with pain that is throbbing, pulsating, or bursting in quality.
Comments:
Reference: HP:0002331
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandCluster headache (HP:0012199) help
..expandHypnic headache (HP:0012459) help
..expandMigraine (HP:0002076) help
..expandOccipital neuralgia (HP:0012318) help
..expandTension-type headache (HP:0012228) help
..expandThunderclap headache (HP:0030907) 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:0002331HP:0002331Recurrent paroxysmal headache0COX1 CL E G H45127419ORPHA:550MELASHP:0040282 - Frequent
HP:0002331HP:0002331Recurrent paroxysmal headache0COX2 CL E G H45137421ORPHA:550MELASHP:0040282 - Frequent
HP:0002331HP:0002331Recurrent paroxysmal headache0COX3 CL E G H45147422ORPHA:550MELASHP:0040282 - Frequent
HP:0002331HP:0002331Recurrent paroxysmal headache0DKK1 CL E G H229432891ORPHA:268882Arnold-Chiari malformation type IHP:0040281 - Very frequent
HP:0002331HP:0002331Recurrent paroxysmal headache0DLST CL E G H17432911ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent
HP:0002331HP:0002331Recurrent paroxysmal headache0DNMT3A CL E G H17882978ORPHA:276621Sporadic pheochromocytoma/secreting paragangliomaHP:0040282 - Frequent44
HP:0002331HP:0002331Recurrent paroxysmal headache0EPAS1 CL E G H20343374ORPHA:276621Sporadic pheochromocytoma/secreting paragangliomaHP:0040282 - Frequent112
HP:0002331HP:0002331Recurrent paroxysmal headache0FH CL E G H22713700ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent301
HP:0002331HP:0002331Recurrent paroxysmal headache0KIF1B CL E G H2309516636ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent202
HP:0002331HP:0002331Recurrent paroxysmal headache0MAX CL E G H41496913ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent84
HP:0002331HP:0002331Recurrent paroxysmal headache0MDH2 CL E G H41916971ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent4
HP:0002331HP:0002331Recurrent paroxysmal headache0ND1 CL E G H45357455ORPHA:550MELASHP:0040282 - Frequent
HP:0002331HP:0002331Recurrent paroxysmal headache0ND4 CL E G H45387459ORPHA:550MELASHP:0040282 - Frequent
HP:0002331HP:0002331Recurrent paroxysmal headache0ND5 CL E G H45407461ORPHA:550MELASHP:0040282 - Frequent
HP:0002331HP:0002331Recurrent paroxysmal headache0ND6 CL E G H45417462ORPHA:550MELASHP:0040282 - Frequent
HP:0002331HP:0002331Recurrent paroxysmal headache0NF1 CL E G H47637765ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent1952
HP:0002331HP:0002331Recurrent paroxysmal headache0RET CL E G H59799967ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent572
HP:0002331HP:0002331Recurrent paroxysmal headache0RET CL E G H59799967ORPHA:276621Sporadic pheochromocytoma/secreting paragangliomaHP:0040282 - Frequent572
HP:0002331HP:0002331Recurrent paroxysmal headache0SDHA CL E G H638910680ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent304
HP:0002331HP:0002331Recurrent paroxysmal headache0SDHAF2 CL E G H5494926034ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent55
HP:0002331HP:0002331Recurrent paroxysmal headache0SDHB CL E G H639010681ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent237
HP:0002331HP:0002331Recurrent paroxysmal headache0SDHB CL E G H639010681OMIM:115310Paragangliomas 4.237
HP:0002331HP:0002331Recurrent paroxysmal headache0SDHB CL E G H639010681ORPHA:276621Sporadic pheochromocytoma/secreting paragangliomaHP:0040282 - Frequent237
HP:0002331HP:0002331Recurrent paroxysmal headache0SDHC CL E G H639110682ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent147
HP:0002331HP:0002331Recurrent paroxysmal headache0SDHC CL E G H639110682OMIM:605373Paragangliomas 3.147
HP:0002331HP:0002331Recurrent paroxysmal headache0SDHD CL E G H639210683ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent129
HP:0002331HP:0002331Recurrent paroxysmal headache0SDHD CL E G H639210683OMIM:168000Paragangliomas 1.129
HP:0002331HP:0002331Recurrent paroxysmal headache0SDHD CL E G H639210683ORPHA:276621Sporadic pheochromocytoma/secreting paragangliomaHP:0040282 - Frequent129
HP:0002331HP:0002331Recurrent paroxysmal headache0SLC25A11 CL E G H840210981ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent
HP:0002331HP:0002331Recurrent paroxysmal headache0TMEM127 CL E G H5565426038ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent131
HP:0002331HP:0002331Recurrent paroxysmal headache0TRNF CL E G H45587481ORPHA:550MELASHP:0040282 - Frequent
HP:0002331HP:0002331Recurrent paroxysmal headache0TRNH CL E G H45647487ORPHA:550MELASHP:0040282 - Frequent
HP:0002331HP:0002331Recurrent paroxysmal headache0TRNL1 CL E G H45677490ORPHA:550MELASHP:0040282 - Frequent
HP:0002331HP:0002331Recurrent paroxysmal headache0TRNQ CL E G H45727495ORPHA:550MELASHP:0040282 - Frequent
HP:0002331HP:0002331Recurrent paroxysmal headache0TRNS1 CL E G H45747497ORPHA:550MELASHP:0040282 - Frequent
HP:0002331HP:0002331Recurrent paroxysmal headache0TRNS2 CL E G H45757498ORPHA:550MELASHP:0040282 - Frequent
HP:0002331HP:0002331Recurrent paroxysmal headache0TRNW CL E G H45787501ORPHA:550MELASHP:0040282 - Frequent
HP:0002331HP:0002331Recurrent paroxysmal headache0VHL CL E G H742812687ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent490
HP:0002331HP:0002331Recurrent paroxysmal headache0VHL CL E G H742812687ORPHA:276621Sporadic pheochromocytoma/secreting paragangliomaHP:0040282 - Frequent490


Genes (32) :COX1 COX2 COX3 DKK1 DLST DNMT3A EPAS1 FH KIF1B MAX MDH2 ND1 ND4 ND5 ND6 NF1 RET SDHA SDHAF2 SDHB SDHC SDHD SLC25A11 TMEM127 TRNF TRNH TRNL1 TRNQ TRNS1 TRNS2 TRNW VHL

Diseases (7) :ORPHA:550 ORPHA:268882 ORPHA:29072 ORPHA:276621 OMIM:115310 OMIM:605373 OMIM:168000
 

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