Human Phenotype Ontology 
Grandparent Node:
expand
Abdominal symptom (HP:0011458)help
Grandparent Node:
expand
Pain (HP:0012531)help
Parent Node:
expand
Abdominal pain (HP:0002027)help
..Starting node
..expand
Episodic abdominal pain (HP:0002574)help
Term ID: 2574
Name: Episodic abdominal pain
Synonym: Intermittent abdominal pain
Definition: An intermittent form of abdominal pain.
Comments:
Reference: HP:0002574
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbdominal colic (HP:0011848) 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:0002574HP:0002574Episodic abdominal pain0ATRX CL E G H546886ORPHA:100075Neuroendocrine tumor of stomachHP:0040282 - Frequent169
HP:0002574HP:0002574Episodic abdominal pain0CDC73 CL E G H7957716783ORPHA:99880Hyperparathyroidism-jaw tumor syndromeHP:0040283 - Occasional169
HP:0002574HP:0002574Episodic abdominal pain0CDC73 CL E G H7957716783ORPHA:143Parathyroid carcinomaHP:0040283 - Occasional169
HP:0002574HP:0002574Episodic abdominal pain0CDKN1B CL E G H10271785ORPHA:276152Multiple endocrine neoplasia type 4HP:0040282 - Frequent102
HP:0002574HP:0002574Episodic abdominal pain0CPT2 CL E G H13762330ORPHA:228305Carnitine palmitoyl transferase II deficiency, severe infantile formHP:0040282 - Frequent101
HP:0002574HP:0002574Episodic abdominal pain0DAXX CL E G H16162681ORPHA:100075Neuroendocrine tumor of stomachHP:0040282 - Frequent
HP:0002574HP:0002574Episodic abdominal pain0DLST CL E G H17432911ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent
HP:0002574HP:0002574Episodic abdominal pain0DNMT3A CL E G H17882978ORPHA:276621Sporadic pheochromocytoma/secreting paragangliomaHP:0040282 - Frequent44
HP:0002574HP:0002574Episodic abdominal pain0EPAS1 CL E G H20343374ORPHA:276621Sporadic pheochromocytoma/secreting paragangliomaHP:0040282 - Frequent112
HP:0002574HP:0002574Episodic abdominal pain0ERBB3 CL E G H20653431OMIM:243180Visceral neuropathy, familial, autosomal recessive.12
HP:0002574HP:0002574Episodic abdominal pain0ESR1 CL E G H20993467ORPHA:785Estrogen resistance syndromeHP:0040282 - Frequent13
HP:0002574HP:0002574Episodic abdominal pain0F12 CL E G H21613530OMIM:610618ANGIOEDEMA, HEREDITARY, TYPE III; HAE328
HP:0002574HP:0002574Episodic abdominal pain0FH CL E G H22713700ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent301
HP:0002574HP:0002574Episodic abdominal pain0FLI1 CL E G H23133749ORPHA:370348Peripheral primitive neuroectodermal tumorHP:0040283 - Occasional8
HP:0002574HP:0002574Episodic abdominal pain0GNE CL E G H1002023657ORPHA:3166SialuriaHP:0040281 - Very frequent173
HP:0002574HP:0002574Episodic abdominal pain0HEXB CL E G H30744879OMIM:268800Sandhoff disease.80
HP:0002574HP:0002574Episodic abdominal pain0KIF1B CL E G H2309516636ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent202
HP:0002574HP:0002574Episodic abdominal pain0LPL CL E G H40236677OMIM:238600Type I hyperlipoproteinemia.106
HP:0002574HP:0002574Episodic abdominal pain0MAX CL E G H41496913ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent84
HP:0002574HP:0002574Episodic abdominal pain0MC2R CL E G H41586930ORPHA:361Familial glucocorticoid deficiencyHP:0040282 - Frequent94
HP:0002574HP:0002574Episodic abdominal pain0MDH2 CL E G H41916971ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent4
HP:0002574HP:0002574Episodic abdominal pain0MEFV CL E G H42106998OMIM:249100Familial Mediterranean fever, AR281
HP:0002574HP:0002574Episodic abdominal pain0MRAP CL E G H562461304ORPHA:361Familial glucocorticoid deficiencyHP:0040282 - Frequent26
HP:0002574HP:0002574Episodic abdominal pain0NF1 CL E G H47637765ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent1952
HP:0002574HP:0002574Episodic abdominal pain0NNT CL E G H235307863ORPHA:361Familial glucocorticoid deficiencyHP:0040282 - Frequent13
HP:0002574HP:0002574Episodic abdominal pain0PIGA CL E G H52778957ORPHA:447Paroxysmal nocturnal hemoglobinuriaHP:0040282 - Frequent46
HP:0002574HP:0002574Episodic abdominal pain0PNPT1 CL E G H8717823166ORPHA:101111Spinocerebellar ataxia type 25HP:0040283 - Occasional60
HP:0002574HP:0002574Episodic abdominal pain0RET CL E G H59799967ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent572
HP:0002574HP:0002574Episodic abdominal pain0RET CL E G H59799967ORPHA:276621Sporadic pheochromocytoma/secreting paragangliomaHP:0040282 - Frequent572
HP:0002574HP:0002574Episodic abdominal pain0SDHA CL E G H638910680ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent304
HP:0002574HP:0002574Episodic abdominal pain0SDHAF2 CL E G H5494926034ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent55
HP:0002574HP:0002574Episodic abdominal pain0SDHB CL E G H639010681ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent237
HP:0002574HP:0002574Episodic abdominal pain0SDHB CL E G H639010681ORPHA:276621Sporadic pheochromocytoma/secreting paragangliomaHP:0040282 - Frequent237
HP:0002574HP:0002574Episodic abdominal pain0SDHC CL E G H639110682ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent147
HP:0002574HP:0002574Episodic abdominal pain0SDHD CL E G H639210683ORPHA:100093Carcinoid syndromeHP:0040282 - Frequent129
HP:0002574HP:0002574Episodic abdominal pain0SDHD CL E G H639210683ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent129
HP:0002574HP:0002574Episodic abdominal pain0SDHD CL E G H639210683ORPHA:276621Sporadic pheochromocytoma/secreting paragangliomaHP:0040282 - Frequent129
HP:0002574HP:0002574Episodic abdominal pain0SLC25A11 CL E G H840210981ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent
HP:0002574HP:0002574Episodic abdominal pain0STAR CL E G H677011359ORPHA:361Familial glucocorticoid deficiencyHP:0040282 - Frequent45
HP:0002574HP:0002574Episodic abdominal pain0TMEM127 CL E G H5565426038ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent131
HP:0002574HP:0002574Episodic abdominal pain0TXNRD2 CL E G H1058718155ORPHA:361Familial glucocorticoid deficiencyHP:0040282 - Frequent85
HP:0002574HP:0002574Episodic abdominal pain0VHL CL E G H742812687ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent490
HP:0002574HP:0002574Episodic abdominal pain0VHL CL E G H742812687ORPHA:276621Sporadic pheochromocytoma/secreting paragangliomaHP:0040282 - Frequent490


Genes (37) :ATRX CDC73 CDKN1B CPT2 DAXX DLST DNMT3A EPAS1 ERBB3 ESR1 F12 FH FLI1 GNE HEXB KIF1B LPL MAX MC2R MDH2 MEFV MRAP NF1 NNT PIGA PNPT1 RET SDHA SDHAF2 SDHB SDHC SDHD SLC25A11 STAR TMEM127 TXNRD2 VHL

Diseases (19) :ORPHA:100075 ORPHA:99880 ORPHA:143 ORPHA:276152 ORPHA:228305 ORPHA:29072 ORPHA:276621 OMIM:243180 ORPHA:785 OMIM:610618 ORPHA:370348 ORPHA:3166 OMIM:268800 OMIM:238600 ORPHA:361 OMIM:249100 ORPHA:447 ORPHA:101111 ORPHA:100093
 

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