Human Phenotype Ontology 
Grandparent Node:
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Neoplasm (HP:0002664)help
Parent Node:
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Abnormality of the endocrine system (HP:0000818)help
Parent Node:
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Neoplasm by anatomical site (HP:0011793)help
..Starting node
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Neoplasm of the endocrine system (HP:0100568)help
Term ID: 100568
Name: Neoplasm of the endocrine system
Synonym: Endocrine neoplasia
Definition: A tumor (abnormal growth of tissue) of the endocrine system.
Comments:
Reference: HP:0100568
Genes and Diseases:
 
       Child Nodes:
........expandAPUdoma (HP:0040192) help
................... HP:0030447 Merkel cell skin cancer
........expandNeoplasm of the pituitary gland (HP:0040277) help
................... HP:0011750 Neoplasm of the anterior pituitary
................... HP:0040278 Prolactinoma
........expandNeoplasm of the thyroid gland (HP:0100031) help
................... HP:0000854 Thyroid adenoma
................... HP:0002890 Thyroid carcinoma
........expandNeoplasm of the adrenal gland (HP:0100631) help
................... HP:0100641 Neoplasm of the adrenal cortex
................... HP:0100642 Neoplasm of the adrenal medulla
........expandNeuroendocrine neoplasm (HP:0100634) help
................... HP:0002666 Pheochromocytoma
................... HP:0002668 Paraganglioma
................... HP:0030405 Pancreatic endocrine tumor
................... HP:0100570 Carcinoid tumor
........expandNeoplasm of the parathyroid gland (HP:0100733) help
................... HP:0002897 Parathyroid adenoma
................... HP:0006780 Parathyroid carcinoma

 Sister Nodes: 
..expandHematological neoplasm (HP:0004377) help
..expandMalignant mesothelioma (HP:0100001) help
..expandNeoplasm of fatty tissue (HP:0200013) help
..expandNeoplasm of head and neck (HP:0012288) help
..expandNeoplasm of striated muscle (HP:0009728) help
..expandNeoplasm of the breast (HP:0100013) help
..expandNeoplasm of the ear (HP:0012780) help
..expandNeoplasm of the eye (HP:0100012) help
..expandNeoplasm of the gastrointestinal tract (HP:0007378) help
..expandNeoplasm of the genitourinary tract (HP:0007379) help
..expandNeoplasm of the heart (HP:0100544) help
..expandNeoplasm of the lip (HP:0100604) help
..expandNeoplasm of the nail (HP:0100826) help
..expandNeoplasm of the nervous system (HP:0004375) help
..expandNeoplasm of the oral cavity (HP:0100649) help
..expandNeoplasm of the pancreas (HP:0002894) help
..expandNeoplasm of the respiratory system (HP:0100606) help
..expandNeoplasm of the skeletal system (HP:0010622) help
..expandNeoplasm of the skin (HP:0008069) help
..expandNeoplasm of the thymus (HP:0100521) help
..expandRetroperitoneal chemodectomas (HP:0006729) help
..expandSoft tissue neoplasm (HP:0031459) help
..expandVascular neoplasm (HP:0100742) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0100568HP:0100568Neoplasm of the endocrine system0 CL E G H
HP:0100568HP:0100733Neoplasm of the parathyroid gland1 CL E G H
HP:0100568HP:0100634Neuroendocrine neoplasm1 CL E G H
HP:0100568HP:0040277Neoplasm of the pituitary gland1 CL E G H
HP:0100568HP:0100031Neoplasm of the thyroid gland1 CL E G H
HP:0100568HP:0100631Neoplasm of the adrenal gland1 CL E G H
HP:0100568HP:0040192APUdoma1 CL E G H
HP:0100568HP:0030405Pancreatic endocrine tumor2 CL E G H
HP:0100568HP:0100642Neoplasm of the adrenal medulla2 CL E G H
HP:0100568HP:0000854Thyroid adenoma2 CL E G H
HP:0100568HP:0002890Thyroid carcinoma2 CL E G H
HP:0100568HP:0100641Neoplasm of the adrenal cortex2 CL E G H
HP:0100568HP:0040278Prolactinoma2 CL E G H
HP:0100568HP:0002668Paraganglioma2 CL E G H
HP:0100568HP:0030447Merkel cell skin cancer2 CL E G H
HP:0100568HP:0006780Parathyroid carcinoma2 CL E G H
HP:0100568HP:0011750Neoplasm of the anterior pituitary2 CL E G H
HP:0100568HP:0002666Pheochromocytoma2 CL E G H
HP:0100568HP:0002897Parathyroid adenoma2 CL E G H
HP:0100568HP:0100570Carcinoid tumor2 CL E G H
HP:0100568HP:0002864Paraganglioma of head and neck3 CL E G H
HP:0100568HP:0011779Anaplastic thyroid carcinoma3 CL E G H
HP:0100568HP:0006723Intestinal carcinoid3 CL E G H
HP:0100568HP:0100636Pulmonary paraglioma3 CL E G H
HP:0100568HP:0002895Papillary thyroid carcinoma3 CL E G H
HP:0100568HP:0008256Adrenocortical adenoma3 CL E G H
HP:0100568HP:0002893Pituitary adenoma3 CL E G H
HP:0100568HP:0011774Thyroid follicular adenoma3 CL E G H
HP:0100568HP:0030074Chemodectoma3 CL E G H
HP:0100568HP:0040198Non-medullary thyroid carcinoma3 CL E G H
HP:0100568HP:0006744Adrenocortical carcinoma3 CL E G H
HP:0100568HP:0011778Thyroid atypical adenoma3 CL E G H
HP:0100568HP:0011777Thyroid papillary adenoma3 CL E G H
HP:0100568HP:0002865Medullary thyroid carcinoma3 CL E G H
HP:0100568HP:0006737Extraadrenal pheochromocytoma3 CL E G H
HP:0100568HP:0011764Pituitary spindle cell oncocytoma3 CL E G H
HP:0100568HP:0030445Pulmonary carcinoid tumor3 CL E G H
HP:0100568HP:0006781Hurthle cell thyroid adenoma3 CL E G H
HP:0100568HP:0030404Glucagonoma3 CL E G H
HP:0100568HP:0008261Pancreatic islet cell adenoma3 CL E G H
HP:0100568HP:0006731Follicular thyroid carcinoma3 CL E G H
HP:0100568HP:0006722Small intestine carcinoid3 CL E G H
HP:0100568HP:0011763Pituitary carcinoma3 CL E G H
HP:0100568HP:0006748Adrenal pheochromocytoma3 CL E G H
HP:0100568HP:0011758Pituitary acidophilic stem cell adenoma4 CL E G H
HP:0100568HP:0011775Thyroid macrofollicular adenoma4 CL E G H
HP:0100568HP:0100635Carotid paraganglioma4 CL E G H
HP:0100568HP:0011761Pituitary null cell adenoma4 CL E G H
HP:0100568HP:0011762Pituitary thyrotropic cell adenoma4 CL E G H
HP:0100568HP:0011760Pituitary growth hormone cell adenoma4 CL E G H
HP:0100568HP:0008194Multiple pancreatic beta-cell adenomas4 CL E G H
HP:0100568HP:0002886Vagal paraganglioma4 CL E G H
HP:0100568HP:0030446Atypical pulmonary carcinoid tumor4 CL E G H
HP:0100568HP:0011759Pituitary gonadotropic cell adenoma4 CL E G H
HP:0100568HP:0012197Insulinoma4 CL E G H
HP:0100568HP:0006715Glomus tympanicum paraganglioma4 CL E G H
HP:0100568HP:0011746Secretory adrenocortical adenoma4 CL E G H
HP:0100568HP:0008291Pituitary corticotropic cell adenoma4 CL E G H
HP:0100568HP:0011776Thyroid microfollicular adenoma4 CL E G H
HP:0100568HP:0003001Glomus jugular tumor4 CL E G H
HP:0100568HP:0006767Pituitary prolactin cell adenoma4 CL E G H
HP:0100568HP:0011745Non-secretory adrenocortical adenoma4 CL E G H
HP:0100568HP:0012341Microprolactinoma5 CL E G H
HP:0100568HP:0012342Macroprolactinoma5 CL E G H


Genes (91) :AIP AKT1 APC ATRX BMPR1A BRAF CACNA1S CDC73 CDH23 CDKN1A CDKN1B CDKN1C CDKN2A CDKN2B CDKN2C CHEK2 CTNNB1 CYP11B1 CYP11B2 DAXX DICER1 ECE1 EDN3 EDNRB EPCAM FAN1 FH FLCN FOXE1 FOXI1 GCGR GCM2 GDNF GNAS GPR101 GREM1 H19 H19-ICR HABP2 HRAS IDH1 IDH2 IGF2 JAG1 KCNE3 KCNJ10 KCNQ1 KCNQ1OT1 KEAP1 KIF1B KLLN KRAS LMNA MAFA MAX MDH2 MDM2 MEN1 MINPP1 MLH1 MLH3 MSH2 MSH3 MSH6 NF1 NRAS NRTN NTRK1 PIK3CA PMS1 PMS2 PRKAR1A PTEN RET SCN4A SDHA SDHAF2 SDHB SDHC SDHD SEC23B SEMA3C SEMA3D SLC26A4 TG TGFBR2 TMEM127 TP53 USP8 VHL WRN

Diseases (76) :388 144 562 79474 97279 137608 65285 102200 615109 100075 157794 54595 99879 99880 143 145001 608266 652 276152 610755 524 276399 122 705 274600 617343 163634 171300 131100 480536 617100 162200 615108 1359 160980 109 158350 171400 162300 614165 97286 606864 100093 274700 892 193300 902 219090 201 247806 79665 175100 681 96253 130650 138800 29072 319487 438274 174800 300942 300943 188470 118450 363618 155240 601650 115310 605373 168000 616858 1501 151623 963 403 147630
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.