Human Phenotype Ontology 
Grandparent Node:
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Abnormal nervous system morphology (HP:0012639)help
Grandparent Node:
expand
Neoplasm by anatomical site (HP:0011793)help
Parent Node:
expand
Abnormal peripheral nervous system morphology (HP:0000759)help
Parent Node:
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Neoplasm of the nervous system (HP:0004375)help
..Starting node
..expand
Neoplasm of the peripheral nervous system (HP:0100007)help
Term ID: 100007
Name: Neoplasm of the peripheral nervous system
Synonym: Tumor of the peripheral nervous system; Tumour of the peripheral nervous system
Definition: A benign or malignant neoplasm (tumour) of the peripheral nervous system.
Comments:
Reference: HP:0100007
Genes and Diseases:
 
       Child Nodes:
........expandNeurofibromas (HP:0001067) help
................... HP:0005220 Multiple intestinal neurofibromatosis
................... HP:0006751 Paraspinal neurofibromas
................... HP:0007524 Atypical neurofibromatosis
................... HP:0007576 Palmar neurofibromas
................... HP:0009595 Occasional neurofibromas
................... HP:0009732 Plexiform neurofibroma
................... HP:0009735 Spinal neurofibromas
................... HP:0100698 Subcutaneous neurofibromas
........expandPeripheral neuroepithelioma (HP:0006717) help
........expandNeuroma (HP:0030430) help
................... HP:0031023 Multiple mucosal neuromas
........expandNeuroplasm of the autonomic nervous system (HP:0030450) help
................... HP:0003005 Ganglioneuroma
........expandSchwannoma (HP:0100008) help
................... HP:0009588 Vestibular Schwannoma
................... HP:0009593 Peripheral Schwannoma
................... HP:0100011 Scleral schwannoma
........expandNeuroendocrine neoplasm (HP:0100634) help
................... HP:0002666 Pheochromocytoma
................... HP:0002668 Paraganglioma
................... HP:0030405 Pancreatic endocrine tumor
................... HP:0100570 Carcinoid tumor

 Sister Nodes: 
..expandNeoplasm of the central nervous system (HP:0100006) 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:0100007HP:0100007Neoplasm of the peripheral nervous system0AKT1 CL E G H207391ORPHA:2495Meningioma54
HP:0100007HP:0100007Neoplasm of the peripheral nervous system0APC CL E G H324583OMIM:175100Adenomatous polyposis coli3179
HP:0100007HP:0100007Neoplasm of the peripheral nervous system0APC CL E G H324583ORPHA:79665Gardner syndrome3179
HP:0100007HP:0100007Neoplasm of the peripheral nervous system0ARMC5 CL E G H7979825781ORPHA:189427Cushing syndrome due to macronodular adrenal hyperplasia7
HP:0100007HP:0100007Neoplasm of the peripheral nervous system0ASCL1 CL E G H429738ORPHA:99803Haddad syndrome15
HP:0100007HP:0100007Neoplasm of the peripheral nervous system0ATRX CL E G H546886ORPHA:100075Neuroendocrine tumor of stomach169
HP:0100007HP:0100007Neoplasm of the peripheral nervous system0BAP1 CL E G H8314950ORPHA:2495Meningioma184
HP:0100007HP:0100007Neoplasm of the peripheral nervous system0BDNF CL E G H6271033ORPHA:661Ondine syndrome5
HP:0100007HP:0100007Neoplasm of the peripheral nervous system0CCM2 CL E G H8360521708ORPHA:221061Familial cerebral cavernous malformation37
HP:0100007HP:0100007Neoplasm of the peripheral nervous system0CCND1 CL E G H5951582ORPHA:892Von Hippel-Lindau disease1
HP:0100007HP:0100007Neoplasm of the peripheral nervous system0CCND1 CL E G H5951582OMIM:193300Von hippel-lindau syndrome1
HP:0100007HP:0100007Neoplasm of the peripheral nervous system0CDKN1A CL E G H10261784ORPHA:652Multiple endocrine neoplasia type 12
HP:0100007HP:0100007Neoplasm of the peripheral nervous system0CDKN1B CL E G H10271785ORPHA:652Multiple endocrine neoplasia type 1102
HP:0100007HP:0100007Neoplasm of the peripheral nervous system0CDKN1B CL E G H10271785ORPHA:276152Multiple endocrine neoplasia type 4102
HP:0100007HP:0100007Neoplasm of the peripheral nervous system0CDKN1B CL E G H10271785OMIM:610755Multiple endocrine neoplasia, type IV102
HP:0100007HP:0100007Neoplasm of the peripheral nervous system0CDKN2B CL E G H10301788ORPHA:652Multiple endocrine neoplasia type 11
HP:0100007HP:0100007Neoplasm of the peripheral nervous system0CDKN2C CL E G H10311789ORPHA:652Multiple endocrine neoplasia type 1
HP:0100007HP:0100007Neoplasm of the peripheral nervous system0DAXX CL E G H16162681ORPHA:100075Neuroendocrine tumor of stomach
HP:0100007HP:0100007Neoplasm of the peripheral nervous system0DLST CL E G H17432911ORPHA:29072Hereditary pheochromocytoma-paraganglioma
HP:0100007HP:0100007Neoplasm of the peripheral nervous system0DLST CL E G H17432911OMIM:618475Paragangliomas 7
HP:0100007HP:0100007Neoplasm of the peripheral nervous system0DNMT3A CL E G H17882978ORPHA:276621Sporadic pheochromocytoma/secreting paraganglioma44
HP:0100007HP:0100007Neoplasm of the peripheral nervous system0DNMT3A CL E G H17882978ORPHA:404443Tatton-Brown-Rahman syndrome44
HP:0100007HP:0100007Neoplasm of the peripheral nervous system0EDN3 CL E G H19083178ORPHA:661Ondine syndrome67
HP:0100007HP:0100007Neoplasm of the peripheral nervous system0EPAS1 CL E G H20343374ORPHA:276621Sporadic pheochromocytoma/secreting paraganglioma112
HP:0100007HP:0100007Neoplasm of the peripheral nervous system0FH CL E G H22713700ORPHA:29072Hereditary pheochromocytoma-paraganglioma301
HP:0100007HP:0100007Neoplasm of the peripheral nervous system0GCGR CL E G H26424192ORPHA:438274GCGR-related hyperglucagonemia1
HP:0100007HP:0100007Neoplasm of the peripheral nervous system0GDNF CL E G H26684232ORPHA:661Ondine syndrome59
HP:0100007HP:0100007Neoplasm of the peripheral nervous system0GNAS CL E G H27784392ORPHA:189427Cushing syndrome due to macronodular adrenal hyperplasia101
HP:0100007HP:0100007Neoplasm of the peripheral nervous system0HRAS CL E G H32655173OMIM:218040Costello syndrome113
HP:0100007HP:0100007Neoplasm of the peripheral nervous system0HRAS CL E G H32655173ORPHA:2874Phakomatosis pigmentokeratotica113
HP:0100007HP:0100007Neoplasm of the peripheral nervous system0IFNG CL E G H34585438ORPHA:805Tuberous sclerosis complex23
HP:0100007HP:0100007Neoplasm of the peripheral nervous system0KARS1 CL E G H37356215OMIM:613641Charcot-marie-tooth disease, recessive intermediate B
HP:0100007HP:0100007Neoplasm of the peripheral nervous system0KCNJ11 CL E G H37676257ORPHA:79644Autosomal recessive hyperinsulinism due to Kir6.2 deficiency127
HP:0100007HP:0100007Neoplasm of the peripheral nervous system0KIF1B CL E G H2309516636ORPHA:29072Hereditary pheochromocytoma-paraganglioma202
HP:0100007HP:0100007Neoplasm of the peripheral nervous system0KIF1B CL E G H2309516636OMIM:256700Neuroblastoma, susceptibility to202
HP:0100007HP:0100007Neoplasm of the peripheral nervous system0KIF1B CL E G H2309516636OMIM:171300PHEOCHROMOCYTOMA202
HP:0100007HP:0100007Neoplasm of the peripheral nervous system0KIT CL E G H38156342OMIM:606764Gastrointestinal stromal tumor327
HP:0100007HP:0100007Neoplasm of the peripheral nervous system0KRIT1 CL E G H8891573ORPHA:221061Familial cerebral cavernous malformation92
HP:0100007HP:0100007Neoplasm of the peripheral nervous system0LMNA CL E G H40006636ORPHA:363618LMNA-related cardiocutaneous progeria syndrome645
HP:0100007HP:0100007Neoplasm of the peripheral nervous system0LRP1 CL E G H40356692ORPHA:79100Atrophoderma vermiculata4
HP:0100007HP:0100007Neoplasm of the peripheral nervous system0LZTR1 CL E G H82166742OMIM:615670Schwannomatosis 243
HP:0100007HP:0100007Neoplasm of the peripheral nervous system0MAFA CL E G H38969223145OMIM:147630Insulinomatosis and diabetes mellitus
HP:0100007HP:0100007Neoplasm of the peripheral nervous system0MAX CL E G H41496913ORPHA:29072Hereditary pheochromocytoma-paraganglioma84
HP:0100007HP:0100007Neoplasm of the peripheral nervous system0MAX CL E G H41496913OMIM:171300PHEOCHROMOCYTOMA84
HP:0100007HP:0100007Neoplasm of the peripheral nervous system0MBD4 CL E G H89306919OMIM:6199751
HP:0100007HP:0100007Neoplasm of the peripheral nervous system0MDH2 CL E G H41916971ORPHA:29072Hereditary pheochromocytoma-paraganglioma4
HP:0100007HP:0100007Neoplasm of the peripheral nervous system0MEN1 CL E G H42217010ORPHA:97279Insulinoma462
HP:0100007HP:0100007Neoplasm of the peripheral nervous system0MEN1 CL E G H42217010OMIM:131100Multiple endocrine neoplasia 1462
HP:0100007HP:0100007Neoplasm of the peripheral nervous system0MEN1 CL E G H42217010ORPHA:652Multiple endocrine neoplasia type 1462
HP:0100007HP:0100007Neoplasm of the peripheral nervous system0MLH1 CL E G H42927127OMIM:276300Mismatch repair cancer syndrome 11819
HP:0100007HP:0100007Neoplasm of the peripheral nervous system0MYO1H CL E G H28344613879ORPHA:661Ondine syndrome
HP:0100007HP:0100007Neoplasm of the peripheral nervous system0NF1 CL E G H47637765ORPHA:9768517q11 microdeletion syndrome1952
HP:0100007HP:0100007Neoplasm of the peripheral nervous system0NF1 CL E G H47637765ORPHA:29072Hereditary pheochromocytoma-paraganglioma1952
HP:0100007HP:0100007Neoplasm of the peripheral nervous system0NF1 CL E G H47637765ORPHA:363700Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion1952
HP:0100007HP:0100007Neoplasm of the peripheral nervous system0NF1 CL E G H47637765OMIM:162210Neurofibromatosis, familial spinal1952
HP:0100007HP:0100007Neoplasm of the peripheral nervous system0NF1 CL E G H47637765OMIM:162200Neurofibromatosis, type I1952
HP:0100007HP:0100007Neoplasm of the peripheral nervous system0NF1 CL E G H47637765OMIM:601321Neurofibromatosis-Noonan syndrome1952
HP:0100007HP:0100007Neoplasm of the peripheral nervous system0NF1 CL E G H47637765OMIM:193520Watson syndrome1952
HP:0100007HP:0100007Neoplasm of the peripheral nervous system0NF2 CL E G H47717773ORPHA:2495Meningioma220
HP:0100007HP:0100007Neoplasm of the peripheral nervous system0NF2 CL E G H47717773ORPHA:637Neurofibromatosis type 2220
HP:0100007HP:0100007Neoplasm of the peripheral nervous system0NF2 CL E G H47717773OMIM:101000Neurofibromatosis, type II220
HP:0100007HP:0100007Neoplasm of the peripheral nervous system0NF2 CL E G H47717773OMIM:162091SCHWANNOMATOSIS220
HP:0100007HP:0100007Neoplasm of the peripheral nervous system0PDCD10 CL E G H112358761ORPHA:221061Familial cerebral cavernous malformation21
HP:0100007HP:0100007Neoplasm of the peripheral nervous system0PDE11A CL E G H509408773ORPHA:1359Carney complex13
HP:0100007HP:0100007Neoplasm of the peripheral nervous system0PDGFB CL E G H51558800ORPHA:2495Meningioma9
HP:0100007HP:0100007Neoplasm of the peripheral nervous system0PHOX2B CL E G H89299143OMIM:209880Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease86
HP:0100007HP:0100007Neoplasm of the peripheral nervous system0PHOX2B CL E G H89299143ORPHA:99803Haddad syndrome86
HP:0100007HP:0100007Neoplasm of the peripheral nervous system0PHOX2B CL E G H89299143OMIM:613013Neuroblastoma, susceptibility to, 286
HP:0100007HP:0100007Neoplasm of the peripheral nervous system0PHOX2B CL E G H89299143ORPHA:661Ondine syndrome86
HP:0100007HP:0100007Neoplasm of the peripheral nervous system0PIK3CA CL E G H52908975ORPHA:2495Meningioma162
HP:0100007HP:0100007Neoplasm of the peripheral nervous system0PRKAR1A CL E G H55739388ORPHA:1359Carney complex134
HP:0100007HP:0100007Neoplasm of the peripheral nervous system0PRKAR1A CL E G H55739388OMIM:160980Carney complex, type 1134
HP:0100007HP:0100007Neoplasm of the peripheral nervous system0RET CL E G H59799967ORPHA:99803Haddad syndrome572
HP:0100007HP:0100007Neoplasm of the peripheral nervous system0RET CL E G H59799967ORPHA:29072Hereditary pheochromocytoma-paraganglioma572
HP:0100007HP:0100007Neoplasm of the peripheral nervous system0RET CL E G H59799967OMIM:171400Multiple endocrine neoplasia, type IIA572
HP:0100007HP:0100007Neoplasm of the peripheral nervous system0RET CL E G H59799967OMIM:162300Multiple endocrine neoplasia, type IIB572
HP:0100007HP:0100007Neoplasm of the peripheral nervous system0RET CL E G H59799967OMIM:171300PHEOCHROMOCYTOMA572
HP:0100007HP:0100007Neoplasm of the peripheral nervous system0RET CL E G H59799967ORPHA:276621Sporadic pheochromocytoma/secreting paraganglioma572
HP:0100007HP:0100007Neoplasm of the peripheral nervous system0RNF43 CL E G H5489418505ORPHA:157798Serrated polyposis syndrome5
HP:0100007HP:0100007Neoplasm of the peripheral nervous system0SDHA CL E G H638910680ORPHA:29072Hereditary pheochromocytoma-paraganglioma304
HP:0100007HP:0100007Neoplasm of the peripheral nervous system0SDHA CL E G H638910680OMIM:614165PARAGANGLIOMAS 5; PGL5304
HP:0100007HP:0100007Neoplasm of the peripheral nervous system0SDHAF2 CL E G H5494926034ORPHA:29072Hereditary pheochromocytoma-paraganglioma55
HP:0100007HP:0100007Neoplasm of the peripheral nervous system0SDHAF2 CL E G H5494926034OMIM:601650Paragangliomas 255
HP:0100007HP:0100007Neoplasm of the peripheral nervous system0SDHB CL E G H639010681ORPHA:97286Carney-Stratakis syndrome237
HP:0100007HP:0100007Neoplasm of the peripheral nervous system0SDHB CL E G H639010681OMIM:606864Carney-Stratakis syndrome237
HP:0100007HP:0100007Neoplasm of the peripheral nervous system0SDHB CL E G H639010681OMIM:606764Gastrointestinal stromal tumor237
HP:0100007HP:0100007Neoplasm of the peripheral nervous system0SDHB CL E G H639010681ORPHA:29072Hereditary pheochromocytoma-paraganglioma237
HP:0100007HP:0100007Neoplasm of the peripheral nervous system0SDHB CL E G H639010681OMIM:115310Paragangliomas 4237
HP:0100007HP:0100007Neoplasm of the peripheral nervous system0SDHB CL E G H639010681OMIM:171300PHEOCHROMOCYTOMA237
HP:0100007HP:0100007Neoplasm of the peripheral nervous system0SDHB CL E G H639010681ORPHA:276621Sporadic pheochromocytoma/secreting paraganglioma237
HP:0100007HP:0100007Neoplasm of the peripheral nervous system0SDHC CL E G H639110682ORPHA:97286Carney-Stratakis syndrome147
HP:0100007HP:0100007Neoplasm of the peripheral nervous system0SDHC CL E G H639110682OMIM:606864Carney-Stratakis syndrome147
HP:0100007HP:0100007Neoplasm of the peripheral nervous system0SDHC CL E G H639110682OMIM:606764Gastrointestinal stromal tumor147
HP:0100007HP:0100007Neoplasm of the peripheral nervous system0SDHC CL E G H639110682ORPHA:29072Hereditary pheochromocytoma-paraganglioma147
HP:0100007HP:0100007Neoplasm of the peripheral nervous system0SDHC CL E G H639110682OMIM:605373Paragangliomas 3147
HP:0100007HP:0100007Neoplasm of the peripheral nervous system0SDHD CL E G H639210683ORPHA:100093Carcinoid syndrome129
HP:0100007HP:0100007Neoplasm of the peripheral nervous system0SDHD CL E G H639210683OMIM:606864Carney-Stratakis syndrome129
HP:0100007HP:0100007Neoplasm of the peripheral nervous system0SDHD CL E G H639210683ORPHA:97286Carney-Stratakis syndrome129
HP:0100007HP:0100007Neoplasm of the peripheral nervous system0SDHD CL E G H639210683ORPHA:29072Hereditary pheochromocytoma-paraganglioma129
HP:0100007HP:0100007Neoplasm of the peripheral nervous system0SDHD CL E G H639210683OMIM:168000Paragangliomas 1129
HP:0100007HP:0100007Neoplasm of the peripheral nervous system0SDHD CL E G H639210683OMIM:171300PHEOCHROMOCYTOMA129
HP:0100007HP:0100007Neoplasm of the peripheral nervous system0SDHD CL E G H639210683ORPHA:276621Sporadic pheochromocytoma/secreting paraganglioma129
HP:0100007HP:0100007Neoplasm of the peripheral nervous system0SLC25A11 CL E G H840210981ORPHA:29072Hereditary pheochromocytoma-paraganglioma
HP:0100007HP:0100007Neoplasm of the peripheral nervous system0SLC25A11 CL E G H840210981OMIM:618464PARAGANGLIOMAS 6; PGL6
HP:0100007HP:0100007Neoplasm of the peripheral nervous system0SMARCB1 CL E G H659811103ORPHA:2495Meningioma87
HP:0100007HP:0100007Neoplasm of the peripheral nervous system0SMARCB1 CL E G H659811103OMIM:162091SCHWANNOMATOSIS87
HP:0100007HP:0100007Neoplasm of the peripheral nervous system0SMARCE1 CL E G H660511109ORPHA:2495Meningioma47
HP:0100007HP:0100007Neoplasm of the peripheral nervous system0SMO CL E G H660811119ORPHA:2495Meningioma22
HP:0100007HP:0100007Neoplasm of the peripheral nervous system0SPRED1 CL E G H16174220249OMIM:611431Legius syndrome136
HP:0100007HP:0100007Neoplasm of the peripheral nervous system0SPRED1 CL E G H16174220249ORPHA:137605Legius syndrome136
HP:0100007HP:0100007Neoplasm of the peripheral nervous system0SPTBN1 CL E G H671111275OMIM:619475DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0100007HP:0100007Neoplasm of the peripheral nervous system0SUFU CL E G H5168416466ORPHA:2495Meningioma124
HP:0100007HP:0100007Neoplasm of the peripheral nervous system0TERT CL E G H701511730ORPHA:2495Meningioma238
HP:0100007HP:0100007Neoplasm of the peripheral nervous system0TMEM127 CL E G H5565426038ORPHA:29072Hereditary pheochromocytoma-paraganglioma131
HP:0100007HP:0100007Neoplasm of the peripheral nervous system0TMEM127 CL E G H5565426038OMIM:171300PHEOCHROMOCYTOMA131
HP:0100007HP:0100007Neoplasm of the peripheral nervous system0TRAF7 CL E G H8423120456ORPHA:2495Meningioma
HP:0100007HP:0100007Neoplasm of the peripheral nervous system0TSC1 CL E G H724812362ORPHA:805Tuberous sclerosis complex1090
HP:0100007HP:0100007Neoplasm of the peripheral nervous system0TSC2 CL E G H724912363ORPHA:805Tuberous sclerosis complex2738
HP:0100007HP:0100007Neoplasm of the peripheral nervous system0VHL CL E G H742812687ORPHA:29072Hereditary pheochromocytoma-paraganglioma490
HP:0100007HP:0100007Neoplasm of the peripheral nervous system0VHL CL E G H742812687OMIM:171300PHEOCHROMOCYTOMA490
HP:0100007HP:0100007Neoplasm of the peripheral nervous system0VHL CL E G H742812687ORPHA:276621Sporadic pheochromocytoma/secreting paraganglioma490
HP:0100007HP:0100007Neoplasm of the peripheral nervous system0VHL CL E G H742812687ORPHA:892Von Hippel-Lindau disease490
HP:0100007HP:0100007Neoplasm of the peripheral nervous system0VHL CL E G H742812687OMIM:193300Von hippel-lindau syndrome490
HP:0100007HP:0100007Neoplasm of the peripheral nervous system0YY1 CL E G H752812856ORPHA:97279Insulinoma7
HP:0100007HP:0006717Peripheral neuroepithelioma1 CL E G H
HP:0100007HP:0001067Neurofibromas1AKT1 CL E G H207391ORPHA:2495MeningiomaHP:0040283 - Occasional54
HP:0100007HP:0100634Neuroendocrine neoplasm1APC CL E G H324583OMIM:175100Adenomatous polyposis coli3179
HP:0100007HP:0100634Neuroendocrine neoplasm1APC CL E G H324583ORPHA:79665Gardner syndrome3179
HP:0100007HP:0100634Neuroendocrine neoplasm1ARMC5 CL E G H7979825781ORPHA:189427Cushing syndrome due to macronodular adrenal hyperplasia7
HP:0100007HP:0030450Neoplasm of the autonomic nervous system1ASCL1 CL E G H429738ORPHA:99803Haddad syndrome15
HP:0100007HP:0100634Neuroendocrine neoplasm1ATRX CL E G H546886ORPHA:100075Neuroendocrine tumor of stomach169
HP:0100007HP:0001067Neurofibromas1BAP1 CL E G H8314950ORPHA:2495MeningiomaHP:0040283 - Occasional184
HP:0100007HP:0030450Neoplasm of the autonomic nervous system1BDNF CL E G H6271033ORPHA:661Ondine syndrome5
HP:0100007HP:0030430Neuroma1CCM2 CL E G H8360521708ORPHA:221061Familial cerebral cavernous malformationHP:0040282 - Frequent37
HP:0100007HP:0100634Neuroendocrine neoplasm1CCND1 CL E G H5951582ORPHA:892Von Hippel-Lindau disease1
HP:0100007HP:0100634Neuroendocrine neoplasm1CCND1 CL E G H5951582OMIM:193300Von hippel-lindau syndrome1
HP:0100007HP:0100634Neuroendocrine neoplasm1CDKN1A CL E G H10261784ORPHA:652Multiple endocrine neoplasia type 12
HP:0100007HP:0100634Neuroendocrine neoplasm1CDKN1B CL E G H10271785ORPHA:652Multiple endocrine neoplasia type 1102
HP:0100007HP:0100634Neuroendocrine neoplasm1CDKN1B CL E G H10271785ORPHA:276152Multiple endocrine neoplasia type 4HP:0040282 - Frequent102
HP:0100007HP:0100634Neuroendocrine neoplasm1CDKN1B CL E G H10271785OMIM:610755Multiple endocrine neoplasia, type IV102
HP:0100007HP:0100634Neuroendocrine neoplasm1CDKN2B CL E G H10301788ORPHA:652Multiple endocrine neoplasia type 11
HP:0100007HP:0100634Neuroendocrine neoplasm1CDKN2C CL E G H10311789ORPHA:652Multiple endocrine neoplasia type 1
HP:0100007HP:0100634Neuroendocrine neoplasm1DAXX CL E G H16162681ORPHA:100075Neuroendocrine tumor of stomach
HP:0100007HP:0100634Neuroendocrine neoplasm1DLST CL E G H17432911ORPHA:29072Hereditary pheochromocytoma-paraganglioma
HP:0100007HP:0100634Neuroendocrine neoplasm1DLST CL E G H17432911OMIM:618475Paragangliomas 7
HP:0100007HP:0100634Neuroendocrine neoplasm1DNMT3A CL E G H17882978ORPHA:276621Sporadic pheochromocytoma/secreting paraganglioma44
HP:0100007HP:0100634Neuroendocrine neoplasm1DNMT3A CL E G H17882978ORPHA:404443Tatton-Brown-Rahman syndromeHP:0040284 - Very rare44
HP:0100007HP:0030450Neoplasm of the autonomic nervous system1EDN3 CL E G H19083178ORPHA:661Ondine syndrome67
HP:0100007HP:0100634Neuroendocrine neoplasm1EPAS1 CL E G H20343374ORPHA:276621Sporadic pheochromocytoma/secreting paraganglioma112
HP:0100007HP:0100634Neuroendocrine neoplasm1FH CL E G H22713700ORPHA:29072Hereditary pheochromocytoma-paraganglioma301
HP:0100007HP:0100634Neuroendocrine neoplasm1GCGR CL E G H26424192ORPHA:438274GCGR-related hyperglucagonemia1
HP:0100007HP:0030450Neoplasm of the autonomic nervous system1GDNF CL E G H26684232ORPHA:661Ondine syndrome59
HP:0100007HP:0100634Neuroendocrine neoplasm1GNAS CL E G H27784392ORPHA:189427Cushing syndrome due to macronodular adrenal hyperplasia101
HP:0100007HP:0100008Schwannoma1HRAS CL E G H32655173OMIM:218040Costello syndrome113
HP:0100007HP:0100634Neuroendocrine neoplasm1HRAS CL E G H32655173ORPHA:2874Phakomatosis pigmentokeratotica113
HP:0100007HP:0100634Neuroendocrine neoplasm1IFNG CL E G H34585438ORPHA:805Tuberous sclerosis complex23
HP:0100007HP:0100008Schwannoma1KARS1 CL E G H37356215OMIM:613641Charcot-marie-tooth disease, recessive intermediate B
HP:0100007HP:0100634Neuroendocrine neoplasm1KCNJ11 CL E G H37676257ORPHA:79644Autosomal recessive hyperinsulinism due to Kir6.2 deficiency127
HP:0100007HP:0100634Neuroendocrine neoplasm1KIF1B CL E G H2309516636ORPHA:29072Hereditary pheochromocytoma-paraganglioma202
HP:0100007HP:0030450Neoplasm of the autonomic nervous system1KIF1B CL E G H2309516636OMIM:256700Neuroblastoma, susceptibility to202
HP:0100007HP:0100634Neuroendocrine neoplasm1KIF1B CL E G H2309516636OMIM:171300PHEOCHROMOCYTOMA202
HP:0100007HP:0001067Neurofibromas1KIT CL E G H38156342OMIM:606764Gastrointestinal stromal tumor.327
HP:0100007HP:0030430Neuroma1KRIT1 CL E G H8891573ORPHA:221061Familial cerebral cavernous malformationHP:0040282 - Frequent92
HP:0100007HP:0100634Neuroendocrine neoplasm1LMNA CL E G H40006636ORPHA:363618LMNA-related cardiocutaneous progeria syndrome645
HP:0100007HP:0001067Neurofibromas1LRP1 CL E G H40356692ORPHA:79100Atrophoderma vermiculataHP:0040283 - Occasional4
HP:0100007HP:0100008Schwannoma1LZTR1 CL E G H82166742OMIM:615670Schwannomatosis 2.43
HP:0100007HP:0100634Neuroendocrine neoplasm1MAFA CL E G H38969223145OMIM:147630Insulinomatosis and diabetes mellitus
HP:0100007HP:0100634Neuroendocrine neoplasm1MAX CL E G H41496913ORPHA:29072Hereditary pheochromocytoma-paraganglioma84
HP:0100007HP:0100634Neuroendocrine neoplasm1MAX CL E G H41496913OMIM:171300PHEOCHROMOCYTOMA84
HP:0100007HP:0100008Schwannoma1MBD4 CL E G H89306919OMIM:6199751
HP:0100007HP:0100634Neuroendocrine neoplasm1MDH2 CL E G H41916971ORPHA:29072Hereditary pheochromocytoma-paraganglioma4
HP:0100007HP:0100634Neuroendocrine neoplasm1MEN1 CL E G H42217010ORPHA:97279InsulinomaHP:0040283 - Occasional462
HP:0100007HP:0100634Neuroendocrine neoplasm1MEN1 CL E G H42217010OMIM:131100Multiple endocrine neoplasia 1462
HP:0100007HP:0100634Neuroendocrine neoplasm1MEN1 CL E G H42217010ORPHA:652Multiple endocrine neoplasia type 1462
HP:0100007HP:0001067Neurofibromas1MLH1 CL E G H42927127OMIM:276300Mismatch repair cancer syndrome 11819
HP:0100007HP:0030450Neoplasm of the autonomic nervous system1MYO1H CL E G H28344613879ORPHA:661Ondine syndrome
HP:0100007HP:0030430Neuroma1NF1 CL E G H47637765ORPHA:9768517q11 microdeletion syndrome1952
HP:0100007HP:0100634Neuroendocrine neoplasm1NF1 CL E G H47637765ORPHA:9768517q11 microdeletion syndrome1952
HP:0100007HP:0100008Schwannoma1NF1 CL E G H47637765ORPHA:9768517q11 microdeletion syndromeHP:0040283 - Occasional1952
HP:0100007HP:0001067Neurofibromas1NF1 CL E G H47637765ORPHA:9768517q11 microdeletion syndrome1952
HP:0100007HP:0100634Neuroendocrine neoplasm1NF1 CL E G H47637765ORPHA:29072Hereditary pheochromocytoma-paraganglioma1952
HP:0100007HP:0001067Neurofibromas1NF1 CL E G H47637765ORPHA:363700Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion1952
HP:0100007HP:0100008Schwannoma1NF1 CL E G H47637765ORPHA:363700Neurofibromatosis type 1 due to NF1 mutation or intragenic deletionHP:0040284 - Very rare1952
HP:0100007HP:0001067Neurofibromas1NF1 CL E G H47637765OMIM:162210Neurofibromatosis, familial spinal1952
HP:0100007HP:0001067Neurofibromas1NF1 CL E G H47637765OMIM:162200Neurofibromatosis, type I1952
HP:0100007HP:0100634Neuroendocrine neoplasm1NF1 CL E G H47637765OMIM:162200Neurofibromatosis, type I1952
HP:0100007HP:0001067Neurofibromas1NF1 CL E G H47637765OMIM:601321Neurofibromatosis-Noonan syndrome1952
HP:0100007HP:0001067Neurofibromas1NF1 CL E G H47637765OMIM:193520Watson syndrome.1952
HP:0100007HP:0001067Neurofibromas1NF2 CL E G H47717773ORPHA:2495MeningiomaHP:0040283 - Occasional220
HP:0100007HP:0030430Neuroma1NF2 CL E G H47717773ORPHA:637Neurofibromatosis type 2HP:0040281 - Very frequent220
HP:0100007HP:0100008Schwannoma1NF2 CL E G H47717773ORPHA:637Neurofibromatosis type 2220
HP:0100007HP:0100008Schwannoma1NF2 CL E G H47717773OMIM:101000Neurofibromatosis, type II220
HP:0100007HP:0001067Neurofibromas1NF2 CL E G H47717773OMIM:101000Neurofibromatosis, type II220
HP:0100007HP:0100008Schwannoma1NF2 CL E G H47717773OMIM:162091SCHWANNOMATOSIS.220
HP:0100007HP:0030430Neuroma1PDCD10 CL E G H112358761ORPHA:221061Familial cerebral cavernous malformationHP:0040282 - Frequent21
HP:0100007HP:0100008Schwannoma1PDE11A CL E G H509408773ORPHA:1359Carney complexHP:0040282 - Frequent13
HP:0100007HP:0001067Neurofibromas1PDGFB CL E G H51558800ORPHA:2495MeningiomaHP:0040283 - Occasional9
HP:0100007HP:0030450Neoplasm of the autonomic nervous system1PHOX2B CL E G H89299143OMIM:209880Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease86
HP:0100007HP:0030450Neoplasm of the autonomic nervous system1PHOX2B CL E G H89299143ORPHA:99803Haddad syndrome86
HP:0100007HP:0030450Neoplasm of the autonomic nervous system1PHOX2B CL E G H89299143OMIM:613013Neuroblastoma, susceptibility to, 286
HP:0100007HP:0030450Neoplasm of the autonomic nervous system1PHOX2B CL E G H89299143ORPHA:661Ondine syndrome86
HP:0100007HP:0001067Neurofibromas1PIK3CA CL E G H52908975ORPHA:2495MeningiomaHP:0040283 - Occasional162
HP:0100007HP:0100008Schwannoma1PRKAR1A CL E G H55739388ORPHA:1359Carney complexHP:0040282 - Frequent134
HP:0100007HP:0100634Neuroendocrine neoplasm1PRKAR1A CL E G H55739388OMIM:160980Carney complex, type 1134
HP:0100007HP:0100008Schwannoma1PRKAR1A CL E G H55739388OMIM:160980Carney complex, type 1.134
HP:0100007HP:0030450Neoplasm of the autonomic nervous system1RET CL E G H59799967ORPHA:99803Haddad syndrome572
HP:0100007HP:0100634Neuroendocrine neoplasm1RET CL E G H59799967ORPHA:29072Hereditary pheochromocytoma-paraganglioma572
HP:0100007HP:0100634Neuroendocrine neoplasm1RET CL E G H59799967OMIM:171400Multiple endocrine neoplasia, type IIA572
HP:0100007HP:0030450Neoplasm of the autonomic nervous system1RET CL E G H59799967OMIM:162300Multiple endocrine neoplasia, type IIB572
HP:0100007HP:0100634Neuroendocrine neoplasm1RET CL E G H59799967OMIM:162300Multiple endocrine neoplasia, type IIB572
HP:0100007HP:0100634Neuroendocrine neoplasm1RET CL E G H59799967OMIM:171300PHEOCHROMOCYTOMA572
HP:0100007HP:0100634Neuroendocrine neoplasm1RET CL E G H59799967ORPHA:276621Sporadic pheochromocytoma/secreting paraganglioma572
HP:0100007HP:0100008Schwannoma1RNF43 CL E G H5489418505ORPHA:157798Serrated polyposis syndromeHP:0040284 - Very rare5
HP:0100007HP:0100634Neuroendocrine neoplasm1SDHA CL E G H638910680ORPHA:29072Hereditary pheochromocytoma-paraganglioma304
HP:0100007HP:0100634Neuroendocrine neoplasm1SDHA CL E G H638910680OMIM:614165PARAGANGLIOMAS 5; PGL5304
HP:0100007HP:0100634Neuroendocrine neoplasm1SDHAF2 CL E G H5494926034ORPHA:29072Hereditary pheochromocytoma-paraganglioma55
HP:0100007HP:0100634Neuroendocrine neoplasm1SDHAF2 CL E G H5494926034OMIM:601650Paragangliomas 255
HP:0100007HP:0100634Neuroendocrine neoplasm1SDHB CL E G H639010681OMIM:606864Carney-Stratakis syndrome237
HP:0100007HP:0100634Neuroendocrine neoplasm1SDHB CL E G H639010681ORPHA:97286Carney-Stratakis syndrome237
HP:0100007HP:0001067Neurofibromas1SDHB CL E G H639010681OMIM:606764Gastrointestinal stromal tumor.237
HP:0100007HP:0100634Neuroendocrine neoplasm1SDHB CL E G H639010681ORPHA:29072Hereditary pheochromocytoma-paraganglioma237
HP:0100007HP:0100634Neuroendocrine neoplasm1SDHB CL E G H639010681OMIM:115310Paragangliomas 4237
HP:0100007HP:0100634Neuroendocrine neoplasm1SDHB CL E G H639010681OMIM:171300PHEOCHROMOCYTOMA237
HP:0100007HP:0100634Neuroendocrine neoplasm1SDHB CL E G H639010681ORPHA:276621Sporadic pheochromocytoma/secreting paraganglioma237
HP:0100007HP:0100634Neuroendocrine neoplasm1SDHC CL E G H639110682OMIM:606864Carney-Stratakis syndrome147
HP:0100007HP:0100634Neuroendocrine neoplasm1SDHC CL E G H639110682ORPHA:97286Carney-Stratakis syndrome147
HP:0100007HP:0001067Neurofibromas1SDHC CL E G H639110682OMIM:606764Gastrointestinal stromal tumor.147
HP:0100007HP:0100634Neuroendocrine neoplasm1SDHC CL E G H639110682ORPHA:29072Hereditary pheochromocytoma-paraganglioma147
HP:0100007HP:0100634Neuroendocrine neoplasm1SDHC CL E G H639110682OMIM:605373Paragangliomas 3147
HP:0100007HP:0100634Neuroendocrine neoplasm1SDHD CL E G H639210683ORPHA:100093Carcinoid syndrome129
HP:0100007HP:0100634Neuroendocrine neoplasm1SDHD CL E G H639210683ORPHA:97286Carney-Stratakis syndrome129
HP:0100007HP:0100634Neuroendocrine neoplasm1SDHD CL E G H639210683OMIM:606864Carney-Stratakis syndrome129
HP:0100007HP:0100634Neuroendocrine neoplasm1SDHD CL E G H639210683ORPHA:29072Hereditary pheochromocytoma-paraganglioma129
HP:0100007HP:0100634Neuroendocrine neoplasm1SDHD CL E G H639210683OMIM:168000Paragangliomas 1129
HP:0100007HP:0100634Neuroendocrine neoplasm1SDHD CL E G H639210683OMIM:171300PHEOCHROMOCYTOMA129
HP:0100007HP:0100634Neuroendocrine neoplasm1SDHD CL E G H639210683ORPHA:276621Sporadic pheochromocytoma/secreting paraganglioma129
HP:0100007HP:0100634Neuroendocrine neoplasm1SLC25A11 CL E G H840210981ORPHA:29072Hereditary pheochromocytoma-paraganglioma
HP:0100007HP:0100634Neuroendocrine neoplasm1SLC25A11 CL E G H840210981OMIM:618464PARAGANGLIOMAS 6; PGL6
HP:0100007HP:0001067Neurofibromas1SMARCB1 CL E G H659811103ORPHA:2495MeningiomaHP:0040283 - Occasional87
HP:0100007HP:0100008Schwannoma1SMARCB1 CL E G H659811103OMIM:162091SCHWANNOMATOSIS.87
HP:0100007HP:0001067Neurofibromas1SMARCE1 CL E G H660511109ORPHA:2495MeningiomaHP:0040283 - Occasional47
HP:0100007HP:0001067Neurofibromas1SMO CL E G H660811119ORPHA:2495MeningiomaHP:0040283 - Occasional22
HP:0100007HP:0100008Schwannoma1SPRED1 CL E G H16174220249ORPHA:137605Legius syndrome136
HP:0100007HP:0001067Neurofibromas1SPRED1 CL E G H16174220249OMIM:611431Legius syndrome.136
HP:0100007HP:0001067Neurofibromas1SPTBN1 CL E G H671111275OMIM:619475DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0100007HP:0001067Neurofibromas1SUFU CL E G H5168416466ORPHA:2495MeningiomaHP:0040283 - Occasional124
HP:0100007HP:0001067Neurofibromas1TERT CL E G H701511730ORPHA:2495MeningiomaHP:0040283 - Occasional238
HP:0100007HP:0100634Neuroendocrine neoplasm1TMEM127 CL E G H5565426038ORPHA:29072Hereditary pheochromocytoma-paraganglioma131
HP:0100007HP:0100634Neuroendocrine neoplasm1TMEM127 CL E G H5565426038OMIM:171300PHEOCHROMOCYTOMA131
HP:0100007HP:0001067Neurofibromas1TRAF7 CL E G H8423120456ORPHA:2495MeningiomaHP:0040283 - Occasional
HP:0100007HP:0100634Neuroendocrine neoplasm1TSC1 CL E G H724812362ORPHA:805Tuberous sclerosis complex1090
HP:0100007HP:0100634Neuroendocrine neoplasm1TSC2 CL E G H724912363ORPHA:805Tuberous sclerosis complex2738
HP:0100007HP:0100634Neuroendocrine neoplasm1VHL CL E G H742812687ORPHA:29072Hereditary pheochromocytoma-paraganglioma490
HP:0100007HP:0100634Neuroendocrine neoplasm1VHL CL E G H742812687OMIM:171300PHEOCHROMOCYTOMA490
HP:0100007HP:0100634Neuroendocrine neoplasm1VHL CL E G H742812687ORPHA:276621Sporadic pheochromocytoma/secreting paraganglioma490
HP:0100007HP:0100634Neuroendocrine neoplasm1VHL CL E G H742812687ORPHA:892Von Hippel-Lindau disease490
HP:0100007HP:0100634Neuroendocrine neoplasm1VHL CL E G H742812687OMIM:193300Von hippel-lindau syndrome490
HP:0100007HP:0100634Neuroendocrine neoplasm1YY1 CL E G H752812856ORPHA:97279InsulinomaHP:0040283 - Occasional7
HP:0100007HP:0007576Palmar neurofibromas2 CL E G H
HP:0100007HP:0006751Paraspinal neurofibromas2 CL E G H
HP:0100007HP:0005220Multiple intestinal neurofibromatosis2 CL E G H
HP:0100007HP:0100011Scleral schwannoma2 CL E G H
HP:0100007HP:0100570Carcinoid tumor2APC CL E G H324583OMIM:175100Adenomatous polyposis coli3179
HP:0100007HP:0100570Carcinoid tumor2APC CL E G H324583ORPHA:79665Gardner syndrome3179
HP:0100007HP:0003005Ganglioneuroma2ASCL1 CL E G H429738ORPHA:99803Haddad syndromeHP:0040283 - Occasional15
HP:0100007HP:0002668Paraganglioma2ATRX CL E G H546886ORPHA:100075Neuroendocrine tumor of stomachHP:0040284 - Very rare169
HP:0100007HP:0100570Carcinoid tumor2ATRX CL E G H546886ORPHA:100075Neuroendocrine tumor of stomachHP:0040280 - Obligate169
HP:0100007HP:0003005Ganglioneuroma2BDNF CL E G H6271033ORPHA:661Ondine syndromeHP:0040283 - Occasional5
HP:0100007HP:0030405Pancreatic endocrine tumor2CCND1 CL E G H5951582ORPHA:892Von Hippel-Lindau diseaseHP:0040283 - Occasional1
HP:0100007HP:0002666Pheochromocytoma2CCND1 CL E G H5951582ORPHA:892Von Hippel-Lindau disease1
HP:0100007HP:0002668Paraganglioma2CCND1 CL E G H5951582ORPHA:892Von Hippel-Lindau diseaseHP:0040284 - Very rare1
HP:0100007HP:0002666Pheochromocytoma2CCND1 CL E G H5951582OMIM:193300Von hippel-lindau syndrome.1
HP:0100007HP:0002668Paraganglioma2CCND1 CL E G H5951582OMIM:193300Von hippel-lindau syndrome.1
HP:0100007HP:0030405Pancreatic endocrine tumor2CDKN1A CL E G H10261784ORPHA:652Multiple endocrine neoplasia type 1HP:0040283 - Occasional2
HP:0100007HP:0002666Pheochromocytoma2CDKN1A CL E G H10261784ORPHA:652Multiple endocrine neoplasia type 1HP:0040284 - Very rare2
HP:0100007HP:0100570Carcinoid tumor2CDKN1A CL E G H10261784ORPHA:652Multiple endocrine neoplasia type 1HP:0040283 - Occasional2
HP:0100007HP:0030405Pancreatic endocrine tumor2CDKN1B CL E G H10271785ORPHA:652Multiple endocrine neoplasia type 1HP:0040283 - Occasional102
HP:0100007HP:0100570Carcinoid tumor2CDKN1B CL E G H10271785ORPHA:652Multiple endocrine neoplasia type 1HP:0040283 - Occasional102
HP:0100007HP:0002666Pheochromocytoma2CDKN1B CL E G H10271785ORPHA:652Multiple endocrine neoplasia type 1HP:0040284 - Very rare102
HP:0100007HP:0100570Carcinoid tumor2CDKN1B CL E G H10271785ORPHA:276152Multiple endocrine neoplasia type 4HP:0040283 - Occasional102
HP:0100007HP:0030405Pancreatic endocrine tumor2CDKN1B CL E G H10271785ORPHA:276152Multiple endocrine neoplasia type 4102
HP:0100007HP:0100570Carcinoid tumor2CDKN1B CL E G H10271785OMIM:610755Multiple endocrine neoplasia, type IV.102
HP:0100007HP:0030405Pancreatic endocrine tumor2CDKN1B CL E G H10271785OMIM:610755Multiple endocrine neoplasia, type IV102
HP:0100007HP:0100570Carcinoid tumor2CDKN2B CL E G H10301788ORPHA:652Multiple endocrine neoplasia type 1HP:0040283 - Occasional1
HP:0100007HP:0030405Pancreatic endocrine tumor2CDKN2B CL E G H10301788ORPHA:652Multiple endocrine neoplasia type 1HP:0040283 - Occasional1
HP:0100007HP:0002666Pheochromocytoma2CDKN2B CL E G H10301788ORPHA:652Multiple endocrine neoplasia type 1HP:0040284 - Very rare1
HP:0100007HP:0030405Pancreatic endocrine tumor2CDKN2C CL E G H10311789ORPHA:652Multiple endocrine neoplasia type 1HP:0040283 - Occasional
HP:0100007HP:0002666Pheochromocytoma2CDKN2C CL E G H10311789ORPHA:652Multiple endocrine neoplasia type 1HP:0040284 - Very rare
HP:0100007HP:0100570Carcinoid tumor2CDKN2C CL E G H10311789ORPHA:652Multiple endocrine neoplasia type 1HP:0040283 - Occasional
HP:0100007HP:0002668Paraganglioma2DAXX CL E G H16162681ORPHA:100075Neuroendocrine tumor of stomachHP:0040284 - Very rare
HP:0100007HP:0100570Carcinoid tumor2DAXX CL E G H16162681ORPHA:100075Neuroendocrine tumor of stomachHP:0040280 - Obligate
HP:0100007HP:0002666Pheochromocytoma2DLST CL E G H17432911ORPHA:29072Hereditary pheochromocytoma-paraganglioma
HP:0100007HP:0002668Paraganglioma2DLST CL E G H17432911ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040281 - Very frequent
HP:0100007HP:0002668Paraganglioma2DLST CL E G H17432911OMIM:618475Paragangliomas 7.
HP:0100007HP:0002666Pheochromocytoma2DLST CL E G H17432911OMIM:618475Paragangliomas 7.
HP:0100007HP:0002666Pheochromocytoma2DNMT3A CL E G H17882978ORPHA:276621Sporadic pheochromocytoma/secreting paraganglioma44
HP:0100007HP:0002668Paraganglioma2DNMT3A CL E G H17882978ORPHA:276621Sporadic pheochromocytoma/secreting paragangliomaHP:0040281 - Very frequent44
HP:0100007HP:0003005Ganglioneuroma2EDN3 CL E G H19083178ORPHA:661Ondine syndromeHP:0040283 - Occasional67
HP:0100007HP:0002668Paraganglioma2EPAS1 CL E G H20343374ORPHA:276621Sporadic pheochromocytoma/secreting paragangliomaHP:0040281 - Very frequent112
HP:0100007HP:0002666Pheochromocytoma2EPAS1 CL E G H20343374ORPHA:276621Sporadic pheochromocytoma/secreting paraganglioma112
HP:0100007HP:0002668Paraganglioma2FH CL E G H22713700ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040281 - Very frequent301
HP:0100007HP:0002666Pheochromocytoma2FH CL E G H22713700ORPHA:29072Hereditary pheochromocytoma-paraganglioma301
HP:0100007HP:0030405Pancreatic endocrine tumor2GCGR CL E G H26424192ORPHA:438274GCGR-related hyperglucagonemia1
HP:0100007HP:0003005Ganglioneuroma2GDNF CL E G H26684232ORPHA:661Ondine syndromeHP:0040283 - Occasional59
HP:0100007HP:0009588Vestibular schwannoma2HRAS CL E G H32655173OMIM:218040Costello syndrome.113
HP:0100007HP:0002666Pheochromocytoma2HRAS CL E G H32655173ORPHA:2874Phakomatosis pigmentokeratotica113
HP:0100007HP:0002666Pheochromocytoma2IFNG CL E G H34585438ORPHA:805Tuberous sclerosis complexHP:0040284 - Very rare23
HP:0100007HP:0030405Pancreatic endocrine tumor2IFNG CL E G H34585438ORPHA:805Tuberous sclerosis complexHP:0040284 - Very rare23
HP:0100007HP:0100570Carcinoid tumor2IFNG CL E G H34585438ORPHA:805Tuberous sclerosis complexHP:0040284 - Very rare23
HP:0100007HP:0009588Vestibular schwannoma2KARS1 CL E G H37356215OMIM:613641Charcot-marie-tooth disease, recessive intermediate B.
HP:0100007HP:0030405Pancreatic endocrine tumor2KCNJ11 CL E G H37676257ORPHA:79644Autosomal recessive hyperinsulinism due to Kir6.2 deficiency127
HP:0100007HP:0002668Paraganglioma2KIF1B CL E G H2309516636ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040281 - Very frequent202
HP:0100007HP:0002666Pheochromocytoma2KIF1B CL E G H2309516636ORPHA:29072Hereditary pheochromocytoma-paraganglioma202
HP:0100007HP:0003005Ganglioneuroma2KIF1B CL E G H2309516636OMIM:256700Neuroblastoma, susceptibility to.202
HP:0100007HP:0002666Pheochromocytoma2KIF1B CL E G H2309516636OMIM:171300PHEOCHROMOCYTOMA.202
HP:0100007HP:0100570Carcinoid tumor2LMNA CL E G H40006636ORPHA:363618LMNA-related cardiocutaneous progeria syndrome645
HP:0100007HP:0030405Pancreatic endocrine tumor2MAFA CL E G H38969223145OMIM:147630Insulinomatosis and diabetes mellitus
HP:0100007HP:0002666Pheochromocytoma2MAX CL E G H41496913ORPHA:29072Hereditary pheochromocytoma-paraganglioma84
HP:0100007HP:0002668Paraganglioma2MAX CL E G H41496913ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040281 - Very frequent84
HP:0100007HP:0002666Pheochromocytoma2MAX CL E G H41496913OMIM:171300PHEOCHROMOCYTOMA.84
HP:0100007HP:0002666Pheochromocytoma2MDH2 CL E G H41916971ORPHA:29072Hereditary pheochromocytoma-paraganglioma4
HP:0100007HP:0002668Paraganglioma2MDH2 CL E G H41916971ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040281 - Very frequent4
HP:0100007HP:0100570Carcinoid tumor2MEN1 CL E G H42217010OMIM:131100Multiple endocrine neoplasia 1462
HP:0100007HP:0030405Pancreatic endocrine tumor2MEN1 CL E G H42217010OMIM:131100Multiple endocrine neoplasia 1462
HP:0100007HP:0100570Carcinoid tumor2MEN1 CL E G H42217010ORPHA:652Multiple endocrine neoplasia type 1HP:0040283 - Occasional462
HP:0100007HP:0030405Pancreatic endocrine tumor2MEN1 CL E G H42217010ORPHA:652Multiple endocrine neoplasia type 1HP:0040283 - Occasional462
HP:0100007HP:0002666Pheochromocytoma2MEN1 CL E G H42217010ORPHA:652Multiple endocrine neoplasia type 1HP:0040284 - Very rare462
HP:0100007HP:0009732Plexiform neurofibroma2MLH1 CL E G H42927127OMIM:276300Mismatch repair cancer syndrome 11819
HP:0100007HP:0003005Ganglioneuroma2MYO1H CL E G H28344613879ORPHA:661Ondine syndromeHP:0040283 - Occasional
HP:0100007HP:0002666Pheochromocytoma2NF1 CL E G H47637765ORPHA:9768517q11 microdeletion syndromeHP:0040284 - Very rare1952
HP:0100007HP:0007524Atypical neurofibromatosis2NF1 CL E G H47637765ORPHA:9768517q11 microdeletion syndromeHP:0040283 - Occasional1952
HP:0100007HP:0002668Paraganglioma2NF1 CL E G H47637765ORPHA:9768517q11 microdeletion syndrome1952
HP:0100007HP:0031023Multiple mucosal neuromas2NF1 CL E G H47637765ORPHA:9768517q11 microdeletion syndromeHP:0040283 - Occasional1952
HP:0100007HP:0009732Plexiform neurofibroma2NF1 CL E G H47637765ORPHA:9768517q11 microdeletion syndromeHP:0040282 - Frequent1952
HP:0100007HP:0002668Paraganglioma2NF1 CL E G H47637765ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040281 - Very frequent1952
HP:0100007HP:0002666Pheochromocytoma2NF1 CL E G H47637765ORPHA:29072Hereditary pheochromocytoma-paraganglioma1952
HP:0100007HP:0009735Spinal neurofibromas2NF1 CL E G H47637765ORPHA:363700Neurofibromatosis type 1 due to NF1 mutation or intragenic deletionHP:0040283 - Occasional1952
HP:0100007HP:0100698Subcutaneous neurofibromas2NF1 CL E G H47637765ORPHA:363700Neurofibromatosis type 1 due to NF1 mutation or intragenic deletionHP:0040282 - Frequent1952
HP:0100007HP:0009732Plexiform neurofibroma2NF1 CL E G H47637765OMIM:162210Neurofibromatosis, familial spinal1952
HP:0100007HP:0009735Spinal neurofibromas2NF1 CL E G H47637765OMIM:162210Neurofibromatosis, familial spinal1952
HP:0100007HP:0009732Plexiform neurofibroma2NF1 CL E G H47637765OMIM:162200Neurofibromatosis, type I1952
HP:0100007HP:0009735Spinal neurofibromas2NF1 CL E G H47637765OMIM:162200Neurofibromatosis, type I1952
HP:0100007HP:0002666Pheochromocytoma2NF1 CL E G H47637765OMIM:162200Neurofibromatosis, type I1952
HP:0100007HP:0009732Plexiform neurofibroma2NF1 CL E G H47637765OMIM:601321Neurofibromatosis-Noonan syndrome1952
HP:0100007HP:0009593Peripheral Schwannoma2NF2 CL E G H47717773ORPHA:637Neurofibromatosis type 2HP:0040282 - Frequent220
HP:0100007HP:0009588Vestibular schwannoma2NF2 CL E G H47717773ORPHA:637Neurofibromatosis type 2220
HP:0100007HP:0009588Vestibular schwannoma2NF2 CL E G H47717773OMIM:101000Neurofibromatosis, type II220
HP:0100007HP:0009595Occasional neurofibromas2NF2 CL E G H47717773OMIM:101000Neurofibromatosis, type IIHP:0040283 - Occasional220
HP:0100007HP:0009593Peripheral Schwannoma2NF2 CL E G H47717773OMIM:101000Neurofibromatosis, type II.220
HP:0100007HP:0009593Peripheral Schwannoma2NF2 CL E G H47717773OMIM:162091SCHWANNOMATOSIS220
HP:0100007HP:0003005Ganglioneuroma2PHOX2B CL E G H89299143OMIM:209880Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease.86
HP:0100007HP:0003005Ganglioneuroma2PHOX2B CL E G H89299143ORPHA:99803Haddad syndromeHP:0040283 - Occasional86
HP:0100007HP:0003005Ganglioneuroma2PHOX2B CL E G H89299143OMIM:613013Neuroblastoma, susceptibility to, 286
HP:0100007HP:0003005Ganglioneuroma2PHOX2B CL E G H89299143ORPHA:661Ondine syndromeHP:0040283 - Occasional86
HP:0100007HP:0002666Pheochromocytoma2PRKAR1A CL E G H55739388OMIM:160980Carney complex, type 1.134
HP:0100007HP:0003005Ganglioneuroma2RET CL E G H59799967ORPHA:99803Haddad syndromeHP:0040283 - Occasional572
HP:0100007HP:0002668Paraganglioma2RET CL E G H59799967ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040281 - Very frequent572
HP:0100007HP:0002666Pheochromocytoma2RET CL E G H59799967ORPHA:29072Hereditary pheochromocytoma-paraganglioma572
HP:0100007HP:0002666Pheochromocytoma2RET CL E G H59799967OMIM:171400Multiple endocrine neoplasia, type IIA572
HP:0100007HP:0003005Ganglioneuroma2RET CL E G H59799967OMIM:162300Multiple endocrine neoplasia, type IIB.572
HP:0100007HP:0002666Pheochromocytoma2RET CL E G H59799967OMIM:162300Multiple endocrine neoplasia, type IIB.572
HP:0100007HP:0002666Pheochromocytoma2RET CL E G H59799967OMIM:171300PHEOCHROMOCYTOMA.572
HP:0100007HP:0002666Pheochromocytoma2RET CL E G H59799967ORPHA:276621Sporadic pheochromocytoma/secreting paraganglioma572
HP:0100007HP:0002668Paraganglioma2RET CL E G H59799967ORPHA:276621Sporadic pheochromocytoma/secreting paragangliomaHP:0040281 - Very frequent572
HP:0100007HP:0002668Paraganglioma2SDHA CL E G H638910680ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040281 - Very frequent304
HP:0100007HP:0002666Pheochromocytoma2SDHA CL E G H638910680ORPHA:29072Hereditary pheochromocytoma-paraganglioma304
HP:0100007HP:0002668Paraganglioma2SDHA CL E G H638910680OMIM:614165PARAGANGLIOMAS 5; PGL5304
HP:0100007HP:0002668Paraganglioma2SDHAF2 CL E G H5494926034ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040281 - Very frequent55
HP:0100007HP:0002666Pheochromocytoma2SDHAF2 CL E G H5494926034ORPHA:29072Hereditary pheochromocytoma-paraganglioma55
HP:0100007HP:0002668Paraganglioma2SDHAF2 CL E G H5494926034OMIM:601650Paragangliomas 255
HP:0100007HP:0002668Paraganglioma2SDHB CL E G H639010681OMIM:606864Carney-Stratakis syndrome.237
HP:0100007HP:0002668Paraganglioma2SDHB CL E G H639010681ORPHA:97286Carney-Stratakis syndromeHP:0040281 - Very frequent237
HP:0100007HP:0002668Paraganglioma2SDHB CL E G H639010681ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040281 - Very frequent237
HP:0100007HP:0002666Pheochromocytoma2SDHB CL E G H639010681ORPHA:29072Hereditary pheochromocytoma-paraganglioma237
HP:0100007HP:0002668Paraganglioma2SDHB CL E G H639010681OMIM:115310Paragangliomas 4.237
HP:0100007HP:0002666Pheochromocytoma2SDHB CL E G H639010681OMIM:115310Paragangliomas 4237
HP:0100007HP:0002666Pheochromocytoma2SDHB CL E G H639010681OMIM:171300PHEOCHROMOCYTOMA.237
HP:0100007HP:0002666Pheochromocytoma2SDHB CL E G H639010681ORPHA:276621Sporadic pheochromocytoma/secreting paraganglioma237
HP:0100007HP:0002668Paraganglioma2SDHB CL E G H639010681ORPHA:276621Sporadic pheochromocytoma/secreting paragangliomaHP:0040281 - Very frequent237
HP:0100007HP:0002668Paraganglioma2SDHC CL E G H639110682ORPHA:97286Carney-Stratakis syndromeHP:0040281 - Very frequent147
HP:0100007HP:0002668Paraganglioma2SDHC CL E G H639110682OMIM:606864Carney-Stratakis syndrome.147
HP:0100007HP:0002666Pheochromocytoma2SDHC CL E G H639110682ORPHA:29072Hereditary pheochromocytoma-paraganglioma147
HP:0100007HP:0002668Paraganglioma2SDHC CL E G H639110682ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040281 - Very frequent147
HP:0100007HP:0002668Paraganglioma2SDHC CL E G H639110682OMIM:605373Paragangliomas 3147
HP:0100007HP:0002666Pheochromocytoma2SDHC CL E G H639110682OMIM:605373Paragangliomas 3147
HP:0100007HP:0100570Carcinoid tumor2SDHD CL E G H639210683ORPHA:100093Carcinoid syndromeHP:0040280 - Obligate129
HP:0100007HP:0002668Paraganglioma2SDHD CL E G H639210683ORPHA:100093Carcinoid syndromeHP:0040284 - Very rare129
HP:0100007HP:0002668Paraganglioma2SDHD CL E G H639210683ORPHA:97286Carney-Stratakis syndromeHP:0040281 - Very frequent129
HP:0100007HP:0002668Paraganglioma2SDHD CL E G H639210683OMIM:606864Carney-Stratakis syndrome.129
HP:0100007HP:0002668Paraganglioma2SDHD CL E G H639210683ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040281 - Very frequent129
HP:0100007HP:0002666Pheochromocytoma2SDHD CL E G H639210683ORPHA:29072Hereditary pheochromocytoma-paraganglioma129
HP:0100007HP:0002666Pheochromocytoma2SDHD CL E G H639210683OMIM:168000Paragangliomas 1129
HP:0100007HP:0002668Paraganglioma2SDHD CL E G H639210683OMIM:168000Paragangliomas 1129
HP:0100007HP:0002666Pheochromocytoma2SDHD CL E G H639210683OMIM:171300PHEOCHROMOCYTOMA.129
HP:0100007HP:0002666Pheochromocytoma2SDHD CL E G H639210683ORPHA:276621Sporadic pheochromocytoma/secreting paraganglioma129
HP:0100007HP:0002668Paraganglioma2SDHD CL E G H639210683ORPHA:276621Sporadic pheochromocytoma/secreting paragangliomaHP:0040281 - Very frequent129
HP:0100007HP:0002666Pheochromocytoma2SLC25A11 CL E G H840210981ORPHA:29072Hereditary pheochromocytoma-paraganglioma
HP:0100007HP:0002668Paraganglioma2SLC25A11 CL E G H840210981ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040281 - Very frequent
HP:0100007HP:0002668Paraganglioma2SLC25A11 CL E G H840210981OMIM:618464PARAGANGLIOMAS 6; PGL6
HP:0100007HP:0009593Peripheral Schwannoma2SMARCB1 CL E G H659811103OMIM:162091SCHWANNOMATOSIS87
HP:0100007HP:0009588Vestibular schwannoma2SPRED1 CL E G H16174220249ORPHA:137605Legius syndrome136
HP:0100007HP:0002666Pheochromocytoma2TMEM127 CL E G H5565426038ORPHA:29072Hereditary pheochromocytoma-paraganglioma131
HP:0100007HP:0002668Paraganglioma2TMEM127 CL E G H5565426038ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040281 - Very frequent131
HP:0100007HP:0002666Pheochromocytoma2TMEM127 CL E G H5565426038OMIM:171300PHEOCHROMOCYTOMA.131
HP:0100007HP:0100570Carcinoid tumor2TSC1 CL E G H724812362ORPHA:805Tuberous sclerosis complexHP:0040284 - Very rare1090
HP:0100007HP:0002666Pheochromocytoma2TSC1 CL E G H724812362ORPHA:805Tuberous sclerosis complexHP:0040284 - Very rare1090
HP:0100007HP:0030405Pancreatic endocrine tumor2TSC1 CL E G H724812362ORPHA:805Tuberous sclerosis complexHP:0040284 - Very rare1090
HP:0100007HP:0100570Carcinoid tumor2TSC2 CL E G H724912363ORPHA:805Tuberous sclerosis complexHP:0040284 - Very rare2738
HP:0100007HP:0002666Pheochromocytoma2TSC2 CL E G H724912363ORPHA:805Tuberous sclerosis complexHP:0040284 - Very rare2738
HP:0100007HP:0030405Pancreatic endocrine tumor2TSC2 CL E G H724912363ORPHA:805Tuberous sclerosis complexHP:0040284 - Very rare2738
HP:0100007HP:0002668Paraganglioma2VHL CL E G H742812687ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040281 - Very frequent490
HP:0100007HP:0002666Pheochromocytoma2VHL CL E G H742812687ORPHA:29072Hereditary pheochromocytoma-paraganglioma490
HP:0100007HP:0002666Pheochromocytoma2VHL CL E G H742812687OMIM:171300PHEOCHROMOCYTOMA.490
HP:0100007HP:0002668Paraganglioma2VHL CL E G H742812687ORPHA:276621Sporadic pheochromocytoma/secreting paragangliomaHP:0040281 - Very frequent490
HP:0100007HP:0002666Pheochromocytoma2VHL CL E G H742812687ORPHA:276621Sporadic pheochromocytoma/secreting paraganglioma490
HP:0100007HP:0002666Pheochromocytoma2VHL CL E G H742812687ORPHA:892Von Hippel-Lindau disease490
HP:0100007HP:0030405Pancreatic endocrine tumor2VHL CL E G H742812687ORPHA:892Von Hippel-Lindau diseaseHP:0040283 - Occasional490
HP:0100007HP:0002668Paraganglioma2VHL CL E G H742812687ORPHA:892Von Hippel-Lindau diseaseHP:0040284 - Very rare490
HP:0100007HP:0002666Pheochromocytoma2VHL CL E G H742812687OMIM:193300Von hippel-lindau syndrome.490
HP:0100007HP:0002668Paraganglioma2VHL CL E G H742812687OMIM:193300Von hippel-lindau syndrome.490
HP:0100007HP:0031455Presacral ganglioneuroma3 CL E G H
HP:0100007HP:0100636Pulmonary paraglioma3 CL E G H
HP:0100007HP:0006722Small intestine carcinoid3APC CL E G H324583OMIM:175100Adenomatous polyposis coli.3179
HP:0100007HP:0006722Small intestine carcinoid3APC CL E G H324583ORPHA:79665Gardner syndromeHP:0040284 - Very rare3179
HP:0100007HP:0030445Pulmonary carcinoid tumor3ATRX CL E G H546886ORPHA:100075Neuroendocrine tumor of stomach169
HP:0100007HP:0008261Pancreatic islet cell adenoma3CCND1 CL E G H5951582ORPHA:892Von Hippel-Lindau diseaseHP:0040283 - Occasional1
HP:0100007HP:0006748Adrenal pheochromocytoma3CCND1 CL E G H5951582ORPHA:892Von Hippel-Lindau diseaseHP:0040282 - Frequent1
HP:0100007HP:0030445Pulmonary carcinoid tumor3CDKN1A CL E G H10261784ORPHA:652Multiple endocrine neoplasia type 1HP:0040284 - Very rare2
HP:0100007HP:0008261Pancreatic islet cell adenoma3CDKN1A CL E G H10261784ORPHA:652Multiple endocrine neoplasia type 12
HP:0100007HP:0006723Intestinal carcinoid3CDKN1A CL E G H10261784ORPHA:652Multiple endocrine neoplasia type 1HP:0040283 - Occasional2
HP:0100007HP:0030404Glucagonoma3CDKN1A CL E G H10261784ORPHA:652Multiple endocrine neoplasia type 1HP:0040284 - Very rare2
HP:0100007HP:0006723Intestinal carcinoid3CDKN1B CL E G H10271785ORPHA:652Multiple endocrine neoplasia type 1HP:0040283 - Occasional102
HP:0100007HP:0030404Glucagonoma3CDKN1B CL E G H10271785ORPHA:652Multiple endocrine neoplasia type 1HP:0040284 - Very rare102
HP:0100007HP:0008261Pancreatic islet cell adenoma3CDKN1B CL E G H10271785ORPHA:652Multiple endocrine neoplasia type 1102
HP:0100007HP:0030445Pulmonary carcinoid tumor3CDKN1B CL E G H10271785ORPHA:652Multiple endocrine neoplasia type 1HP:0040284 - Very rare102
HP:0100007HP:0030445Pulmonary carcinoid tumor3CDKN1B CL E G H10271785ORPHA:276152Multiple endocrine neoplasia type 4HP:0040282 - Frequent102
HP:0100007HP:0008261Pancreatic islet cell adenoma3CDKN1B CL E G H10271785ORPHA:276152Multiple endocrine neoplasia type 4102
HP:0100007HP:0030404Glucagonoma3CDKN2B CL E G H10301788ORPHA:652Multiple endocrine neoplasia type 1HP:0040284 - Very rare1
HP:0100007HP:0006723Intestinal carcinoid3CDKN2B CL E G H10301788ORPHA:652Multiple endocrine neoplasia type 1HP:0040283 - Occasional1
HP:0100007HP:0030445Pulmonary carcinoid tumor3CDKN2B CL E G H10301788ORPHA:652Multiple endocrine neoplasia type 1HP:0040284 - Very rare1
HP:0100007HP:0008261Pancreatic islet cell adenoma3CDKN2B CL E G H10301788ORPHA:652Multiple endocrine neoplasia type 11
HP:0100007HP:0006723Intestinal carcinoid3CDKN2C CL E G H10311789ORPHA:652Multiple endocrine neoplasia type 1HP:0040283 - Occasional
HP:0100007HP:0030404Glucagonoma3CDKN2C CL E G H10311789ORPHA:652Multiple endocrine neoplasia type 1HP:0040284 - Very rare
HP:0100007HP:0008261Pancreatic islet cell adenoma3CDKN2C CL E G H10311789ORPHA:652Multiple endocrine neoplasia type 1
HP:0100007HP:0030445Pulmonary carcinoid tumor3CDKN2C CL E G H10311789ORPHA:652Multiple endocrine neoplasia type 1HP:0040284 - Very rare
HP:0100007HP:0030445Pulmonary carcinoid tumor3DAXX CL E G H16162681ORPHA:100075Neuroendocrine tumor of stomach
HP:0100007HP:0002864Paraganglioma of head and neck3DLST CL E G H17432911ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent
HP:0100007HP:0006748Adrenal pheochromocytoma3DLST CL E G H17432911ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040281 - Very frequent
HP:0100007HP:0006737Extraadrenal pheochromocytoma3DLST CL E G H17432911ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040281 - Very frequent
HP:0100007HP:0006748Adrenal pheochromocytoma3DNMT3A CL E G H17882978ORPHA:276621Sporadic pheochromocytoma/secreting paragangliomaHP:0040281 - Very frequent44
HP:0100007HP:0002864Paraganglioma of head and neck3DNMT3A CL E G H17882978ORPHA:276621Sporadic pheochromocytoma/secreting paragangliomaHP:0040282 - Frequent44
HP:0100007HP:0006737Extraadrenal pheochromocytoma3DNMT3A CL E G H17882978ORPHA:276621Sporadic pheochromocytoma/secreting paragangliomaHP:0040281 - Very frequent44
HP:0100007HP:0002864Paraganglioma of head and neck3EPAS1 CL E G H20343374ORPHA:276621Sporadic pheochromocytoma/secreting paragangliomaHP:0040282 - Frequent112
HP:0100007HP:0006748Adrenal pheochromocytoma3EPAS1 CL E G H20343374ORPHA:276621Sporadic pheochromocytoma/secreting paragangliomaHP:0040281 - Very frequent112
HP:0100007HP:0006737Extraadrenal pheochromocytoma3EPAS1 CL E G H20343374ORPHA:276621Sporadic pheochromocytoma/secreting paragangliomaHP:0040281 - Very frequent112
HP:0100007HP:0006748Adrenal pheochromocytoma3FH CL E G H22713700ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040281 - Very frequent301
HP:0100007HP:0002864Paraganglioma of head and neck3FH CL E G H22713700ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent301
HP:0100007HP:0006737Extraadrenal pheochromocytoma3FH CL E G H22713700ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040281 - Very frequent301
HP:0100007HP:0030404Glucagonoma3GCGR CL E G H26424192ORPHA:438274GCGR-related hyperglucagonemiaHP:0040282 - Frequent1
HP:0100007HP:0008261Pancreatic islet cell adenoma3KCNJ11 CL E G H37676257ORPHA:79644Autosomal recessive hyperinsulinism due to Kir6.2 deficiency127
HP:0100007HP:0002864Paraganglioma of head and neck3KIF1B CL E G H2309516636ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent202
HP:0100007HP:0006737Extraadrenal pheochromocytoma3KIF1B CL E G H2309516636ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040281 - Very frequent202
HP:0100007HP:0006748Adrenal pheochromocytoma3KIF1B CL E G H2309516636ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040281 - Very frequent202
HP:0100007HP:0030445Pulmonary carcinoid tumor3LMNA CL E G H40006636ORPHA:363618LMNA-related cardiocutaneous progeria syndromeHP:0040281 - Very frequent645
HP:0100007HP:0008261Pancreatic islet cell adenoma3MAFA CL E G H38969223145OMIM:147630Insulinomatosis and diabetes mellitus
HP:0100007HP:0006737Extraadrenal pheochromocytoma3MAX CL E G H41496913ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040281 - Very frequent84
HP:0100007HP:0002864Paraganglioma of head and neck3MAX CL E G H41496913ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent84
HP:0100007HP:0006748Adrenal pheochromocytoma3MAX CL E G H41496913ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040281 - Very frequent84
HP:0100007HP:0006737Extraadrenal pheochromocytoma3MDH2 CL E G H41916971ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040281 - Very frequent4
HP:0100007HP:0006748Adrenal pheochromocytoma3MDH2 CL E G H41916971ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040281 - Very frequent4
HP:0100007HP:0002864Paraganglioma of head and neck3MDH2 CL E G H41916971ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent4
HP:0100007HP:0030404Glucagonoma3MEN1 CL E G H42217010OMIM:131100Multiple endocrine neoplasia 1462
HP:0100007HP:0008261Pancreatic islet cell adenoma3MEN1 CL E G H42217010OMIM:131100Multiple endocrine neoplasia 1.462
HP:0100007HP:0030445Pulmonary carcinoid tumor3MEN1 CL E G H42217010ORPHA:652Multiple endocrine neoplasia type 1HP:0040284 - Very rare462
HP:0100007HP:0008261Pancreatic islet cell adenoma3MEN1 CL E G H42217010ORPHA:652Multiple endocrine neoplasia type 1462
HP:0100007HP:0030404Glucagonoma3MEN1 CL E G H42217010ORPHA:652Multiple endocrine neoplasia type 1HP:0040284 - Very rare462
HP:0100007HP:0006723Intestinal carcinoid3MEN1 CL E G H42217010ORPHA:652Multiple endocrine neoplasia type 1HP:0040283 - Occasional462
HP:0100007HP:0002864Paraganglioma of head and neck3NF1 CL E G H47637765ORPHA:9768517q11 microdeletion syndrome1952
HP:0100007HP:0006737Extraadrenal pheochromocytoma3NF1 CL E G H47637765ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040281 - Very frequent1952
HP:0100007HP:0006748Adrenal pheochromocytoma3NF1 CL E G H47637765ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040281 - Very frequent1952
HP:0100007HP:0002864Paraganglioma of head and neck3NF1 CL E G H47637765ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent1952
HP:0100007HP:0006851Symmetric spinal nerve root neurofibromas3NF1 CL E G H47637765OMIM:162210Neurofibromatosis, familial spinal.1952
HP:0100007HP:0009589Bilateral vestibular schwannoma3NF2 CL E G H47717773ORPHA:637Neurofibromatosis type 2HP:0040282 - Frequent220
HP:0100007HP:0009590Unilateral vestibular schwannoma3NF2 CL E G H47717773OMIM:101000Neurofibromatosis, type II220
HP:0100007HP:0009589Bilateral vestibular schwannoma3NF2 CL E G H47717773OMIM:101000Neurofibromatosis, type II220
HP:0100007HP:0006737Extraadrenal pheochromocytoma3RET CL E G H59799967ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040281 - Very frequent572
HP:0100007HP:0002864Paraganglioma of head and neck3RET CL E G H59799967ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent572
HP:0100007HP:0006748Adrenal pheochromocytoma3RET CL E G H59799967ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040281 - Very frequent572
HP:0100007HP:0006737Extraadrenal pheochromocytoma3RET CL E G H59799967ORPHA:276621Sporadic pheochromocytoma/secreting paragangliomaHP:0040281 - Very frequent572
HP:0100007HP:0006748Adrenal pheochromocytoma3RET CL E G H59799967ORPHA:276621Sporadic pheochromocytoma/secreting paragangliomaHP:0040281 - Very frequent572
HP:0100007HP:0002864Paraganglioma of head and neck3RET CL E G H59799967ORPHA:276621Sporadic pheochromocytoma/secreting paragangliomaHP:0040282 - Frequent572
HP:0100007HP:0002864Paraganglioma of head and neck3SDHA CL E G H638910680ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent304
HP:0100007HP:0006748Adrenal pheochromocytoma3SDHA CL E G H638910680ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040281 - Very frequent304
HP:0100007HP:0006737Extraadrenal pheochromocytoma3SDHA CL E G H638910680ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040281 - Very frequent304
HP:0100007HP:0006748Adrenal pheochromocytoma3SDHAF2 CL E G H5494926034ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040281 - Very frequent55
HP:0100007HP:0006737Extraadrenal pheochromocytoma3SDHAF2 CL E G H5494926034ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040281 - Very frequent55
HP:0100007HP:0002864Paraganglioma of head and neck3SDHAF2 CL E G H5494926034ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent55
HP:0100007HP:0002864Paraganglioma of head and neck3SDHAF2 CL E G H5494926034OMIM:601650Paragangliomas 255
HP:0100007HP:0030074Chemodectoma3SDHAF2 CL E G H5494926034OMIM:601650Paragangliomas 2.55
HP:0100007HP:0002864Paraganglioma of head and neck3SDHB CL E G H639010681ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent237
HP:0100007HP:0006737Extraadrenal pheochromocytoma3SDHB CL E G H639010681ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040281 - Very frequent237
HP:0100007HP:0006748Adrenal pheochromocytoma3SDHB CL E G H639010681ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040281 - Very frequent237
HP:0100007HP:0006748Adrenal pheochromocytoma3SDHB CL E G H639010681OMIM:115310Paragangliomas 4.237
HP:0100007HP:0002864Paraganglioma of head and neck3SDHB CL E G H639010681OMIM:115310Paragangliomas 4HP:0040283 - Occasional237
HP:0100007HP:0006737Extraadrenal pheochromocytoma3SDHB CL E G H639010681OMIM:115310Paragangliomas 4.237
HP:0100007HP:0030074Chemodectoma3SDHB CL E G H639010681OMIM:115310Paragangliomas 4.237
HP:0100007HP:0006737Extraadrenal pheochromocytoma3SDHB CL E G H639010681ORPHA:276621Sporadic pheochromocytoma/secreting paragangliomaHP:0040281 - Very frequent237
HP:0100007HP:0006748Adrenal pheochromocytoma3SDHB CL E G H639010681ORPHA:276621Sporadic pheochromocytoma/secreting paragangliomaHP:0040281 - Very frequent237
HP:0100007HP:0002864Paraganglioma of head and neck3SDHB CL E G H639010681ORPHA:276621Sporadic pheochromocytoma/secreting paragangliomaHP:0040282 - Frequent237
HP:0100007HP:0006748Adrenal pheochromocytoma3SDHC CL E G H639110682ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040281 - Very frequent147
HP:0100007HP:0002864Paraganglioma of head and neck3SDHC CL E G H639110682ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent147
HP:0100007HP:0006737Extraadrenal pheochromocytoma3SDHC CL E G H639110682ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040281 - Very frequent147
HP:0100007HP:0006748Adrenal pheochromocytoma3SDHC CL E G H639110682OMIM:605373Paragangliomas 3.147
HP:0100007HP:0030074Chemodectoma3SDHC CL E G H639110682OMIM:605373Paragangliomas 3.147
HP:0100007HP:0006737Extraadrenal pheochromocytoma3SDHC CL E G H639110682OMIM:605373Paragangliomas 3.147
HP:0100007HP:0002864Paraganglioma of head and neck3SDHC CL E G H639110682OMIM:605373Paragangliomas 3147
HP:0100007HP:0006723Intestinal carcinoid3SDHD CL E G H639210683ORPHA:100093Carcinoid syndromeHP:0040282 - Frequent129
HP:0100007HP:0006722Small intestine carcinoid3SDHD CL E G H639210683ORPHA:100093Carcinoid syndromeHP:0040282 - Frequent129
HP:0100007HP:0030445Pulmonary carcinoid tumor3SDHD CL E G H639210683ORPHA:100093Carcinoid syndromeHP:0040283 - Occasional129
HP:0100007HP:0006748Adrenal pheochromocytoma3SDHD CL E G H639210683ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040281 - Very frequent129
HP:0100007HP:0006737Extraadrenal pheochromocytoma3SDHD CL E G H639210683ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040281 - Very frequent129
HP:0100007HP:0002864Paraganglioma of head and neck3SDHD CL E G H639210683ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent129
HP:0100007HP:0006737Extraadrenal pheochromocytoma3SDHD CL E G H639210683OMIM:168000Paragangliomas 1129
HP:0100007HP:0002864Paraganglioma of head and neck3SDHD CL E G H639210683OMIM:168000Paragangliomas 1129
HP:0100007HP:0030074Chemodectoma3SDHD CL E G H639210683OMIM:168000Paragangliomas 1.129
HP:0100007HP:0006748Adrenal pheochromocytoma3SDHD CL E G H639210683OMIM:168000Paragangliomas 1129
HP:0100007HP:0002864Paraganglioma of head and neck3SDHD CL E G H639210683ORPHA:276621Sporadic pheochromocytoma/secreting paragangliomaHP:0040282 - Frequent129
HP:0100007HP:0006748Adrenal pheochromocytoma3SDHD CL E G H639210683ORPHA:276621Sporadic pheochromocytoma/secreting paragangliomaHP:0040281 - Very frequent129
HP:0100007HP:0006737Extraadrenal pheochromocytoma3SDHD CL E G H639210683ORPHA:276621Sporadic pheochromocytoma/secreting paragangliomaHP:0040281 - Very frequent129
HP:0100007HP:0006748Adrenal pheochromocytoma3SLC25A11 CL E G H840210981ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040281 - Very frequent
HP:0100007HP:0006737Extraadrenal pheochromocytoma3SLC25A11 CL E G H840210981ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040281 - Very frequent
HP:0100007HP:0002864Paraganglioma of head and neck3SLC25A11 CL E G H840210981ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent
HP:0100007HP:0006748Adrenal pheochromocytoma3TMEM127 CL E G H5565426038ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040281 - Very frequent131
HP:0100007HP:0006737Extraadrenal pheochromocytoma3TMEM127 CL E G H5565426038ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040281 - Very frequent131
HP:0100007HP:0002864Paraganglioma of head and neck3TMEM127 CL E G H5565426038ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent131
HP:0100007HP:0006737Extraadrenal pheochromocytoma3VHL CL E G H742812687ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040281 - Very frequent490
HP:0100007HP:0006748Adrenal pheochromocytoma3VHL CL E G H742812687ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040281 - Very frequent490
HP:0100007HP:0002864Paraganglioma of head and neck3VHL CL E G H742812687ORPHA:29072Hereditary pheochromocytoma-paragangliomaHP:0040282 - Frequent490
HP:0100007HP:0006748Adrenal pheochromocytoma3VHL CL E G H742812687ORPHA:276621Sporadic pheochromocytoma/secreting paragangliomaHP:0040281 - Very frequent490
HP:0100007HP:0002864Paraganglioma of head and neck3VHL CL E G H742812687ORPHA:276621Sporadic pheochromocytoma/secreting paragangliomaHP:0040282 - Frequent490
HP:0100007HP:0006737Extraadrenal pheochromocytoma3VHL CL E G H742812687ORPHA:276621Sporadic pheochromocytoma/secreting paragangliomaHP:0040281 - Very frequent490
HP:0100007HP:0006748Adrenal pheochromocytoma3VHL CL E G H742812687ORPHA:892Von Hippel-Lindau diseaseHP:0040282 - Frequent490
HP:0100007HP:0008261Pancreatic islet cell adenoma3VHL CL E G H742812687ORPHA:892Von Hippel-Lindau diseaseHP:0040283 - Occasional490
HP:0100007HP:0100635Carotid paraganglioma4 CL E G H
HP:0100007HP:0030446Atypical pulmonary carcinoid tumor4ATRX CL E G H546886ORPHA:100075Neuroendocrine tumor of stomachHP:0040283 - Occasional169
HP:0100007HP:0012197Insulinoma4CDKN1A CL E G H10261784ORPHA:652Multiple endocrine neoplasia type 1HP:0040283 - Occasional2
HP:0100007HP:0012197Insulinoma4CDKN1B CL E G H10271785ORPHA:652Multiple endocrine neoplasia type 1HP:0040283 - Occasional102
HP:0100007HP:0012197Insulinoma4CDKN1B CL E G H10271785ORPHA:276152Multiple endocrine neoplasia type 4HP:0040282 - Frequent102
HP:0100007HP:0012197Insulinoma4CDKN2B CL E G H10301788ORPHA:652Multiple endocrine neoplasia type 1HP:0040283 - Occasional1
HP:0100007HP:0012197Insulinoma4CDKN2C CL E G H10311789ORPHA:652Multiple endocrine neoplasia type 1HP:0040283 - Occasional
HP:0100007HP:0030446Atypical pulmonary carcinoid tumor4DAXX CL E G H16162681ORPHA:100075Neuroendocrine tumor of stomachHP:0040283 - Occasional
HP:0100007HP:0008194Multiple pancreatic beta-cell adenomas4KCNJ11 CL E G H37676257ORPHA:79644Autosomal recessive hyperinsulinism due to Kir6.2 deficiency127
HP:0100007HP:0008194Multiple pancreatic beta-cell adenomas4MAFA CL E G H38969223145OMIM:147630Insulinomatosis and diabetes mellitus.
HP:0100007HP:0012197Insulinoma4MAFA CL E G H38969223145OMIM:147630Insulinomatosis and diabetes mellitus
HP:0100007HP:0012197Insulinoma4MEN1 CL E G H42217010OMIM:131100Multiple endocrine neoplasia 1462
HP:0100007HP:0012197Insulinoma4MEN1 CL E G H42217010ORPHA:652Multiple endocrine neoplasia type 1HP:0040283 - Occasional462
HP:0100007HP:0003001Glomus jugular tumor4NF1 CL E G H47637765ORPHA:9768517q11 microdeletion syndromeHP:0040284 - Very rare1952
HP:0100007HP:0002886Vagal paraganglioma4SDHAF2 CL E G H5494926034OMIM:601650Paragangliomas 2.55
HP:0100007HP:0006715Glomus tympanicum paraganglioma4SDHAF2 CL E G H5494926034OMIM:601650Paragangliomas 2.55
HP:0100007HP:0003001Glomus jugular tumor4SDHAF2 CL E G H5494926034OMIM:601650Paragangliomas 2.55
HP:0100007HP:0003001Glomus jugular tumor4SDHB CL E G H639010681OMIM:115310Paragangliomas 4.237
HP:0100007HP:0003001Glomus jugular tumor4SDHC CL E G H639110682OMIM:605373Paragangliomas 3.147
HP:0100007HP:0030446Atypical pulmonary carcinoid tumor4SDHD CL E G H639210683ORPHA:100093Carcinoid syndromeHP:0040284 - Very rare129
HP:0100007HP:0003001Glomus jugular tumor4SDHD CL E G H639210683OMIM:168000Paragangliomas 1.129
HP:0100007HP:0002886Vagal paraganglioma4SDHD CL E G H639210683OMIM:168000Paragangliomas 1.129
HP:0100007HP:0006715Glomus tympanicum paraganglioma4SDHD CL E G H639210683OMIM:168000Paragangliomas 1.129


Genes (68) :AKT1 APC ARMC5 ASCL1 ATRX BAP1 BDNF CCM2 CCND1 CDKN1A CDKN1B CDKN2B CDKN2C DAXX DLST DNMT3A EDN3 EPAS1 FH GCGR GDNF GNAS HRAS IFNG KARS1 KCNJ11 KIF1B KIT KRIT1 LMNA LRP1 LZTR1 MAFA MAX MBD4 MDH2 MEN1 MLH1 MYO1H NF1 NF2 PDCD10 PDE11A PDGFB PHOX2B PIK3CA PRKAR1A RET RNF43 SDHA SDHAF2 SDHB SDHC SDHD SLC25A11 SMARCB1 SMARCE1 SMO SPRED1 SPTBN1 SUFU TERT TMEM127 TRAF7 TSC1 TSC2 VHL YY1

Diseases (62) :ORPHA:2495 OMIM:175100 ORPHA:79665 ORPHA:189427 ORPHA:99803 ORPHA:100075 ORPHA:661 ORPHA:221061 ORPHA:892 OMIM:193300 ORPHA:652 ORPHA:276152 OMIM:610755 ORPHA:29072 OMIM:618475 ORPHA:276621 ORPHA:404443 ORPHA:438274 OMIM:218040 ORPHA:2874 ORPHA:805 OMIM:613641 ORPHA:79644 OMIM:256700 OMIM:171300 OMIM:606764 ORPHA:363618 ORPHA:79100 OMIM:615670 OMIM:147630 OMIM:619975 ORPHA:97279 OMIM:131100 OMIM:276300 ORPHA:97685 ORPHA:363700 OMIM:162210 OMIM:162200 OMIM:601321 OMIM:193520 ORPHA:637 OMIM:101000 OMIM:162091 ORPHA:1359 OMIM:209880 OMIM:613013 OMIM:160980 OMIM:171400 OMIM:162300 ORPHA:157798 OMIM:614165 OMIM:601650 ORPHA:97286 OMIM:606864 OMIM:115310 OMIM:605373 ORPHA:100093 OMIM:168000 OMIM:618464 OMIM:611431 ORPHA:137605 OMIM:619475
 

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