Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the endocrine system (HP:0000818)help
Grandparent Node:
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Neoplasm by anatomical site (HP:0011793)help
Parent Node:
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Abnormality of thyroid morphology (HP:0011772)help
Parent Node:
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Neoplasm of the endocrine system (HP:0100568)help
..Starting node
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Neoplasm of the thyroid gland (HP:0100031)help
Term ID: 100031
Name: Neoplasm of the thyroid gland
Synonym: Neoplasia of the thyroid gland
Definition: A tumor (abnormal growth of tissue) of the thyroid gland.
Comments:
Reference: HP:0100031
Genes and Diseases:
 
       Child Nodes:
........expandThyroid adenoma (HP:0000854) help
................... HP:0006781 Hurthle cell thyroid adenoma
................... HP:0011774 Thyroid follicular adenoma
................... HP:0011777 Thyroid papillary adenoma
................... HP:0011778 Thyroid atypical adenoma
........expandThyroid carcinoma (HP:0002890) help
................... HP:0002865 Medullary thyroid carcinoma
................... HP:0002895 Papillary thyroid carcinoma
................... HP:0006731 Follicular thyroid carcinoma
................... HP:0011779 Anaplastic thyroid carcinoma
................... HP:0040198 Non-medullary thyroid carcinoma

 Sister Nodes: 
..expandAPUdoma (HP:0040192) help
..expandNeoplasm of the adrenal gland (HP:0100631) help
..expandNeoplasm of the parathyroid gland (HP:0100733) help
..expandNeoplasm of the pituitary gland (HP:0040277) help
..expandNeuroendocrine neoplasm (HP:0100634) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0100031HP:0100031Neoplasm of the thyroid gland0LMNA CL E G H400079474ORPHA15746636150330
HP:0100031HP:0100031Neoplasm of the thyroid gland0PTEN CL E G H572865285ORPHA16589588601728
HP:0100031HP:0100031Neoplasm of the thyroid gland1LMNA CL E G H400079474ORPHA15746636150330
HP:0100031HP:0100031Neoplasm of the thyroid gland1PTEN CL E G H572865285ORPHA16589588601728
HP:0100031HP:0100031Neoplasm of the thyroid gland2LMNA CL E G H400079474ORPHA15746636150330
HP:0100031HP:0100031Neoplasm of the thyroid gland2PTEN CL E G H572865285ORPHA16589588601728
HP:0100031HP:0100031Neoplasm of the thyroid gland3LMNA CL E G H400079474ORPHA15746636150330
HP:0100031HP:0100031Neoplasm of the thyroid gland3PTEN CL E G H572865285ORPHA16589588601728
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0100031HP:0100031Neoplasm of the thyroid gland0ECE1 CL E G H1889388Hirschsprung diseaseC0019569ORPHA073146600423
HP:0100031HP:0100031Neoplasm of the thyroid gland0EDN3 CL E G H1908388Hirschsprung diseaseC0019569ORPHA0213178131242
HP:0100031HP:0100031Neoplasm of the thyroid gland0EDNRB CL E G H1910388Hirschsprung diseaseC0019569ORPHA0703180131244
HP:0100031HP:0100031Neoplasm of the thyroid gland0EPCAM CL E G H4072144ORPHA08111529185535
HP:0100031HP:0100031Neoplasm of the thyroid gland0FAN1 CL E G H22909144ORPHA02129170613534
HP:0100031HP:0100031Neoplasm of the thyroid gland0GDNF CL E G H2668388Hirschsprung diseaseC0019569ORPHA0114232600837
HP:0100031HP:0100031Neoplasm of the thyroid gland0GNAS CL E G H2778562ORPHA02794392139320
HP:0100031HP:0100031Neoplasm of the thyroid gland0KRAS CL E G H3845144ORPHA0456407190070
HP:0100031HP:0100031Neoplasm of the thyroid gland0MLH1 CL E G H4292144ORPHA012037127120436
HP:0100031HP:0100031Neoplasm of the thyroid gland0MLH3 CL E G H27030144ORPHA0327128604395
HP:0100031HP:0100031Neoplasm of the thyroid gland0MSH2 CL E G H4436144ORPHA012647325609309
HP:0100031HP:0100031Neoplasm of the thyroid gland0MSH6 CL E G H2956144ORPHA06027329600678
HP:0100031HP:0100031Neoplasm of the thyroid gland0NRTN CL E G H4902388Hirschsprung diseaseC0019569ORPHA038007602018
HP:0100031HP:0100031Neoplasm of the thyroid gland0PIK3CA CL E G H5290144ORPHA0578975171834
HP:0100031HP:0100031Neoplasm of the thyroid gland0PMS1 CL E G H5378144ORPHA0369121600258
HP:0100031HP:0100031Neoplasm of the thyroid gland0PMS2 CL E G H5395144ORPHA03639122600259
HP:0100031HP:0100031Neoplasm of the thyroid gland0PTEN CL E G H5728137608ORPHA06589588601728
HP:0100031HP:0100031Neoplasm of the thyroid gland0RET CL E G H5979388Hirschsprung diseaseC0019569ORPHA04329967164761
HP:0100031HP:0100031Neoplasm of the thyroid gland0SEMA3C CL E G H10512388Hirschsprung diseaseC0019569ORPHA0410725602645
HP:0100031HP:0100031Neoplasm of the thyroid gland0SEMA3D CL E G H223117388Hirschsprung diseaseC0019569ORPHA01410726609907
HP:0100031HP:0100031Neoplasm of the thyroid gland0TGFBR2 CL E G H7048144ORPHA014811773190182
HP:0100031HP:0100031Neoplasm of the thyroid gland1ECE1 CL E G H1889388Hirschsprung diseaseC0019569ORPHA073146600423
HP:0100031HP:0100031Neoplasm of the thyroid gland1EDN3 CL E G H1908388Hirschsprung diseaseC0019569ORPHA0213178131242
HP:0100031HP:0100031Neoplasm of the thyroid gland1EDNRB CL E G H1910388Hirschsprung diseaseC0019569ORPHA0703180131244
HP:0100031HP:0100031Neoplasm of the thyroid gland1EPCAM CL E G H4072144ORPHA08111529185535
HP:0100031HP:0100031Neoplasm of the thyroid gland1FAN1 CL E G H22909144ORPHA02129170613534
HP:0100031HP:0100031Neoplasm of the thyroid gland1GDNF CL E G H2668388Hirschsprung diseaseC0019569ORPHA0114232600837
HP:0100031HP:0100031Neoplasm of the thyroid gland1GNAS CL E G H2778562ORPHA02794392139320
HP:0100031HP:0100031Neoplasm of the thyroid gland1KRAS CL E G H3845144ORPHA0456407190070
HP:0100031HP:0100031Neoplasm of the thyroid gland1MLH1 CL E G H4292144ORPHA012037127120436
HP:0100031HP:0100031Neoplasm of the thyroid gland1MLH3 CL E G H27030144ORPHA0327128604395
HP:0100031HP:0100031Neoplasm of the thyroid gland1MSH2 CL E G H4436144ORPHA012647325609309
HP:0100031HP:0100031Neoplasm of the thyroid gland1MSH6 CL E G H2956144ORPHA06027329600678
HP:0100031HP:0100031Neoplasm of the thyroid gland1NRTN CL E G H4902388Hirschsprung diseaseC0019569ORPHA038007602018
HP:0100031HP:0100031Neoplasm of the thyroid gland1PIK3CA CL E G H5290144ORPHA0578975171834
HP:0100031HP:0100031Neoplasm of the thyroid gland1PMS1 CL E G H5378144ORPHA0369121600258
HP:0100031HP:0100031Neoplasm of the thyroid gland1PMS2 CL E G H5395144ORPHA03639122600259
HP:0100031HP:0100031Neoplasm of the thyroid gland1PTEN CL E G H5728137608ORPHA06589588601728
HP:0100031HP:0100031Neoplasm of the thyroid gland1RET CL E G H5979388Hirschsprung diseaseC0019569ORPHA04329967164761
HP:0100031HP:0100031Neoplasm of the thyroid gland1SEMA3C CL E G H10512388Hirschsprung diseaseC0019569ORPHA0410725602645
HP:0100031HP:0100031Neoplasm of the thyroid gland1SEMA3D CL E G H223117388Hirschsprung diseaseC0019569ORPHA01410726609907
HP:0100031HP:0100031Neoplasm of the thyroid gland1TGFBR2 CL E G H7048144ORPHA014811773190182
HP:0100031HP:0100031Neoplasm of the thyroid gland2ECE1 CL E G H1889388Hirschsprung diseaseC0019569ORPHA073146600423
HP:0100031HP:0100031Neoplasm of the thyroid gland2EDN3 CL E G H1908388Hirschsprung diseaseC0019569ORPHA0213178131242
HP:0100031HP:0100031Neoplasm of the thyroid gland2EDNRB CL E G H1910388Hirschsprung diseaseC0019569ORPHA0703180131244
HP:0100031HP:0100031Neoplasm of the thyroid gland2EPCAM CL E G H4072144ORPHA08111529185535
HP:0100031HP:0100031Neoplasm of the thyroid gland2FAN1 CL E G H22909144ORPHA02129170613534
HP:0100031HP:0100031Neoplasm of the thyroid gland2GDNF CL E G H2668388Hirschsprung diseaseC0019569ORPHA0114232600837
HP:0100031HP:0100031Neoplasm of the thyroid gland2GNAS CL E G H2778562ORPHA02794392139320
HP:0100031HP:0100031Neoplasm of the thyroid gland2KRAS CL E G H3845144ORPHA0456407190070
HP:0100031HP:0100031Neoplasm of the thyroid gland2MLH1 CL E G H4292144ORPHA012037127120436
HP:0100031HP:0100031Neoplasm of the thyroid gland2MLH3 CL E G H27030144ORPHA0327128604395
HP:0100031HP:0100031Neoplasm of the thyroid gland2MSH2 CL E G H4436144ORPHA012647325609309
HP:0100031HP:0100031Neoplasm of the thyroid gland2MSH6 CL E G H2956144ORPHA06027329600678
HP:0100031HP:0100031Neoplasm of the thyroid gland2NRTN CL E G H4902388Hirschsprung diseaseC0019569ORPHA038007602018
HP:0100031HP:0100031Neoplasm of the thyroid gland2PIK3CA CL E G H5290144ORPHA0578975171834
HP:0100031HP:0100031Neoplasm of the thyroid gland2PMS1 CL E G H5378144ORPHA0369121600258
HP:0100031HP:0100031Neoplasm of the thyroid gland2PMS2 CL E G H5395144ORPHA03639122600259
HP:0100031HP:0100031Neoplasm of the thyroid gland2PTEN CL E G H5728137608ORPHA06589588601728
HP:0100031HP:0100031Neoplasm of the thyroid gland2RET CL E G H5979388Hirschsprung diseaseC0019569ORPHA04329967164761
HP:0100031HP:0100031Neoplasm of the thyroid gland2SEMA3C CL E G H10512388Hirschsprung diseaseC0019569ORPHA0410725602645
HP:0100031HP:0100031Neoplasm of the thyroid gland2SEMA3D CL E G H223117388Hirschsprung diseaseC0019569ORPHA01410726609907
HP:0100031HP:0100031Neoplasm of the thyroid gland2TGFBR2 CL E G H7048144ORPHA014811773190182
HP:0100031HP:0100031Neoplasm of the thyroid gland3ECE1 CL E G H1889388Hirschsprung diseaseC0019569ORPHA073146600423
HP:0100031HP:0100031Neoplasm of the thyroid gland3EDN3 CL E G H1908388Hirschsprung diseaseC0019569ORPHA0213178131242
HP:0100031HP:0100031Neoplasm of the thyroid gland3EDNRB CL E G H1910388Hirschsprung diseaseC0019569ORPHA0703180131244
HP:0100031HP:0100031Neoplasm of the thyroid gland3EPCAM CL E G H4072144ORPHA08111529185535
HP:0100031HP:0100031Neoplasm of the thyroid gland3FAN1 CL E G H22909144ORPHA02129170613534
HP:0100031HP:0100031Neoplasm of the thyroid gland3GDNF CL E G H2668388Hirschsprung diseaseC0019569ORPHA0114232600837
HP:0100031HP:0100031Neoplasm of the thyroid gland3GNAS CL E G H2778562ORPHA02794392139320
HP:0100031HP:0100031Neoplasm of the thyroid gland3KRAS CL E G H3845144ORPHA0456407190070
HP:0100031HP:0100031Neoplasm of the thyroid gland3MLH1 CL E G H4292144ORPHA012037127120436
HP:0100031HP:0100031Neoplasm of the thyroid gland3MLH3 CL E G H27030144ORPHA0327128604395
HP:0100031HP:0100031Neoplasm of the thyroid gland3MSH2 CL E G H4436144ORPHA012647325609309
HP:0100031HP:0100031Neoplasm of the thyroid gland3MSH6 CL E G H2956144ORPHA06027329600678
HP:0100031HP:0100031Neoplasm of the thyroid gland3NRTN CL E G H4902388Hirschsprung diseaseC0019569ORPHA038007602018
HP:0100031HP:0100031Neoplasm of the thyroid gland3PIK3CA CL E G H5290144ORPHA0578975171834
HP:0100031HP:0100031Neoplasm of the thyroid gland3PMS1 CL E G H5378144ORPHA0369121600258
HP:0100031HP:0100031Neoplasm of the thyroid gland3PMS2 CL E G H5395144ORPHA03639122600259
HP:0100031HP:0100031Neoplasm of the thyroid gland3PTEN CL E G H5728137608ORPHA06589588601728
HP:0100031HP:0100031Neoplasm of the thyroid gland3RET CL E G H5979388Hirschsprung diseaseC0019569ORPHA04329967164761
HP:0100031HP:0100031Neoplasm of the thyroid gland3SEMA3C CL E G H10512388Hirschsprung diseaseC0019569ORPHA0410725602645
HP:0100031HP:0100031Neoplasm of the thyroid gland3SEMA3D CL E G H223117388Hirschsprung diseaseC0019569ORPHA01410726609907
HP:0100031HP:0100031Neoplasm of the thyroid gland3TGFBR2 CL E G H7048144ORPHA014811773190182


Genes (54) :AKT1 APC BMPR1A CDC73 CDKN1A CDKN1B CDKN2B CDKN2C DICER1 ECE1 EDN3 EDNRB EPCAM FAN1 FLCN FOXE1 FOXI1 GDNF GNAS GREM1 HABP2 HRAS JAG1 KCNJ10 KEAP1 KLLN KRAS LMNA MEN1 MINPP1 MLH1 MLH3 MSH2 MSH3 MSH6 NRAS NRTN NTRK1 PIK3CA PMS1 PMS2 PRKAR1A PTEN RET SDHB SDHC SDHD SEC23B SEMA3C SEMA3D SLC26A4 TG TGFBR2 WRN

Diseases (38) :388 144 562 79474 137608 65285 615109 157794 99880 143 652 276152 276399 705 274600 480536 617100 615108 1359 160980 109 158350 274700 902 201 247806 79665 175100 145001 138800 122 319487 188470 118450 155240 171400 162300 616858
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is June 2019 release.