Human Phenotype Ontology 
Grandparent Node:
expand
Abnormal thyroid morphology (HP:0011772)help
Grandparent Node:
expand
Neoplasm of the endocrine system (HP:0100568)help
Parent Node:
expand
Neoplasm of the thyroid gland (HP:0100031)help
..Starting node
..expand
Thyroid carcinoma (HP:0002890)help
Term ID: 2890
Name: Thyroid carcinoma
Synonym:
Definition: The presence of a carcinoma of the thyroid gland.
Comments:
Reference: HP:0002890
Genes and Diseases:
 
       Child Nodes:
........expandMedullary thyroid carcinoma (HP:0002865) help
........expandPapillary thyroid carcinoma (HP:0002895) help
........expandFollicular thyroid carcinoma (HP:0006731) help
........expandAnaplastic thyroid carcinoma (HP:0011779) help
........expandNon-medullary thyroid carcinoma (HP:0040198) help

 Sister Nodes: 
..expandThyroid adenoma (HP:0000854) 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:0002890HP:0002890Thyroid carcinoma0AKT1 CL E G H207391ORPHA:201Cowden syndrome54
HP:0002890HP:0002890Thyroid carcinoma0APC CL E G H324583OMIM:175100Adenomatous polyposis coli3179
HP:0002890HP:0002890Thyroid carcinoma0APC CL E G H324583ORPHA:247806APC-related attenuated familial adenomatous polyposis3179
HP:0002890HP:0002890Thyroid carcinoma0APC CL E G H324583ORPHA:79665Gardner syndrome3179
HP:0002890HP:0002890Thyroid carcinoma0APC CL E G H324583ORPHA:99818Turcot syndrome with polyposisHP:0040283 - Occasional3179
HP:0002890HP:0002890Thyroid carcinoma0ARID1A CL E G H828911110ORPHA:1465Coffin-Siris syndrome88
HP:0002890HP:0002890Thyroid carcinoma0ARID1B CL E G H5749218040ORPHA:1465Coffin-Siris syndrome219
HP:0002890HP:0002890Thyroid carcinoma0ARID2 CL E G H19652818037ORPHA:1465Coffin-Siris syndrome25
HP:0002890HP:0002890Thyroid carcinoma0BMPR1A CL E G H6571076ORPHA:157794Hereditary mixed polyposis syndromeHP:0040284 - Very rare385
HP:0002890HP:0002890Thyroid carcinoma0CASP10 CL E G H8431500ORPHA:3261Autoimmune lymphoproliferative syndromeHP:0040284 - Very rare87
HP:0002890HP:0002890Thyroid carcinoma0CDC73 CL E G H7957716783ORPHA:99880Hyperparathyroidism-jaw tumor syndromeHP:0040284 - Very rare169
HP:0002890HP:0002890Thyroid carcinoma0CDC73 CL E G H7957716783ORPHA:143Parathyroid carcinomaHP:0040284 - Very rare169
HP:0002890HP:0002890Thyroid carcinoma0CDKN1A CL E G H10261784ORPHA:652Multiple endocrine neoplasia type 1HP:0040283 - Occasional2
HP:0002890HP:0002890Thyroid carcinoma0CDKN1B CL E G H10271785ORPHA:652Multiple endocrine neoplasia type 1HP:0040283 - Occasional102
HP:0002890HP:0002890Thyroid carcinoma0CDKN2A CL E G H10291787ORPHA:524Li-Fraumeni syndromeHP:0040284 - Very rare289
HP:0002890HP:0002890Thyroid carcinoma0CDKN2B CL E G H10301788ORPHA:652Multiple endocrine neoplasia type 1HP:0040283 - Occasional1
HP:0002890HP:0002890Thyroid carcinoma0CDKN2C CL E G H10311789ORPHA:652Multiple endocrine neoplasia type 1HP:0040283 - Occasional
HP:0002890HP:0002890Thyroid carcinoma0CHEK2 CL E G H1120016627ORPHA:524Li-Fraumeni syndromeHP:0040284 - Very rare833
HP:0002890HP:0002890Thyroid carcinoma0DICER1 CL E G H2340517098ORPHA:276399Familial multinodular goiterHP:0040284 - Very rare670
HP:0002890HP:0002890Thyroid carcinoma0DICER1 CL E G H2340517098OMIM:138800Goiter, multinodular 1670
HP:0002890HP:0002890Thyroid carcinoma0DPF2 CL E G H59779964ORPHA:1465Coffin-Siris syndrome
HP:0002890HP:0002890Thyroid carcinoma0FAS CL E G H35511920ORPHA:3261Autoimmune lymphoproliferative syndromeHP:0040284 - Very rare59
HP:0002890HP:0002890Thyroid carcinoma0FASLG CL E G H35611936ORPHA:3261Autoimmune lymphoproliferative syndromeHP:0040284 - Very rare37
HP:0002890HP:0002890Thyroid carcinoma0FLCN CL E G H20116327310ORPHA:122Birt-Hogg-Dubé syndrome332
HP:0002890HP:0002890Thyroid carcinoma0FOXE1 CL E G H23043806ORPHA:319487Familial papillary or follicular thyroid carcinoma9
HP:0002890HP:0002890Thyroid carcinoma0FOXE1 CL E G H23043806OMIM:616534Thyroid cancer, nonmedullary, 49
HP:0002890HP:0002890Thyroid carcinoma0FOXI1 CL E G H22993815OMIM:274600Pendred syndrome.33
HP:0002890HP:0002890Thyroid carcinoma0FOXI1 CL E G H22993815ORPHA:705Pendred syndromeHP:0040283 - Occasional33
HP:0002890HP:0002890Thyroid carcinoma0GREM1 CL E G H265852001ORPHA:157794Hereditary mixed polyposis syndromeHP:0040284 - Very rare9
HP:0002890HP:0002890Thyroid carcinoma0HABP2 CL E G H30264798ORPHA:319487Familial papillary or follicular thyroid carcinoma58
HP:0002890HP:0002890Thyroid carcinoma0HABP2 CL E G H30264798OMIM:616535Thyroid cancer, nonmedullary, 558
HP:0002890HP:0002890Thyroid carcinoma0HRAS CL E G H32655173OMIM:188470Thyroid cancer, nonmedullary, 2113
HP:0002890HP:0002890Thyroid carcinoma0JAG1 CL E G H1826188OMIM:118450Alagille syndrome 1257
HP:0002890HP:0002890Thyroid carcinoma0KCNJ10 CL E G H37666256OMIM:274600Pendred syndrome.121
HP:0002890HP:0002890Thyroid carcinoma0KCNJ10 CL E G H37666256ORPHA:705Pendred syndromeHP:0040283 - Occasional121
HP:0002890HP:0002890Thyroid carcinoma0KEAP1 CL E G H981723177ORPHA:276399Familial multinodular goiterHP:0040284 - Very rare
HP:0002890HP:0002890Thyroid carcinoma0KLLN CL E G H10014474837212ORPHA:201Cowden syndrome1
HP:0002890HP:0002890Thyroid carcinoma0MDM2 CL E G H41936973ORPHA:524Li-Fraumeni syndromeHP:0040284 - Very rare1
HP:0002890HP:0002890Thyroid carcinoma0MEN1 CL E G H42217010ORPHA:652Multiple endocrine neoplasia type 1HP:0040283 - Occasional462
HP:0002890HP:0002890Thyroid carcinoma0MINPP1 CL E G H95627102ORPHA:319487Familial papillary or follicular thyroid carcinoma3
HP:0002890HP:0002890Thyroid carcinoma0MINPP1 CL E G H95627102OMIM:188470Thyroid cancer, nonmedullary, 23
HP:0002890HP:0002890Thyroid carcinoma0NKX2-1 CL E G H708011825OMIM:188550Thyroid cancer, nonmedullary, 151
HP:0002890HP:0002890Thyroid carcinoma0NRAS CL E G H48937989OMIM:188470Thyroid cancer, nonmedullary, 2102
HP:0002890HP:0002890Thyroid carcinoma0PDE11A CL E G H509408773ORPHA:1359Carney complexHP:0040283 - Occasional13
HP:0002890HP:0002890Thyroid carcinoma0PIK3CA CL E G H52908975ORPHA:201Cowden syndrome162
HP:0002890HP:0002890Thyroid carcinoma0PRKAR1A CL E G H55739388ORPHA:1359Carney complexHP:0040283 - Occasional134
HP:0002890HP:0002890Thyroid carcinoma0PRKAR1A CL E G H55739388OMIM:160980Carney complex, type 1.134
HP:0002890HP:0002890Thyroid carcinoma0PRKCD CL E G H55809399ORPHA:3261Autoimmune lymphoproliferative syndromeHP:0040284 - Very rare10
HP:0002890HP:0002890Thyroid carcinoma0PTEN CL E G H57289588ORPHA:109Bannayan-Riley-Ruvalcaba syndromeHP:0040283 - Occasional948
HP:0002890HP:0002890Thyroid carcinoma0PTEN CL E G H57289588ORPHA:201Cowden syndrome948
HP:0002890HP:0002890Thyroid carcinoma0RASGRP1 CL E G H101259878ORPHA:3261Autoimmune lymphoproliferative syndromeHP:0040284 - Very rare
HP:0002890HP:0002890Thyroid carcinoma0RET CL E G H59799967OMIM:171400Multiple endocrine neoplasia, type IIA572
HP:0002890HP:0002890Thyroid carcinoma0RET CL E G H59799967OMIM:162300Multiple endocrine neoplasia, type IIB572
HP:0002890HP:0002890Thyroid carcinoma0RET CL E G H59799967OMIM:155240Thyroid carcinoma, familial medullary572
HP:0002890HP:0002890Thyroid carcinoma0SDHB CL E G H639010681ORPHA:201Cowden syndrome237
HP:0002890HP:0002890Thyroid carcinoma0SDHC CL E G H639110682ORPHA:201Cowden syndrome147
HP:0002890HP:0002890Thyroid carcinoma0SDHD CL E G H639210683ORPHA:201Cowden syndrome129
HP:0002890HP:0002890Thyroid carcinoma0SEC23B CL E G H1048310702ORPHA:201Cowden syndrome60
HP:0002890HP:0002890Thyroid carcinoma0SEC23B CL E G H1048310702OMIM:616858Cowden syndrome 760
HP:0002890HP:0002890Thyroid carcinoma0SLC26A4 CL E G H51728818OMIM:274600Pendred syndrome.274
HP:0002890HP:0002890Thyroid carcinoma0SLC26A4 CL E G H51728818ORPHA:705Pendred syndromeHP:0040283 - Occasional274
HP:0002890HP:0002890Thyroid carcinoma0SMARCA4 CL E G H659711100ORPHA:1465Coffin-Siris syndrome617
HP:0002890HP:0002890Thyroid carcinoma0SMARCB1 CL E G H659811103ORPHA:1465Coffin-Siris syndrome87
HP:0002890HP:0002890Thyroid carcinoma0SMARCC2 CL E G H660111105ORPHA:1465Coffin-Siris syndrome1
HP:0002890HP:0002890Thyroid carcinoma0SMARCD1 CL E G H660211106ORPHA:1465Coffin-Siris syndrome
HP:0002890HP:0002890Thyroid carcinoma0SMARCE1 CL E G H660511109ORPHA:1465Coffin-Siris syndrome47
HP:0002890HP:0002890Thyroid carcinoma0SOX11 CL E G H666411191ORPHA:1465Coffin-Siris syndrome14
HP:0002890HP:0002890Thyroid carcinoma0SOX4 CL E G H665911200ORPHA:1465Coffin-Siris syndrome
HP:0002890HP:0002890Thyroid carcinoma0SRGAP1 CL E G H5752217382OMIM:188470Thyroid cancer, nonmedullary, 23
HP:0002890HP:0002890Thyroid carcinoma0TG CL E G H703811764OMIM:274700Thyroid hormonogenesis, genetic defect in, 3.155
HP:0002890HP:0002890Thyroid carcinoma0TP53 CL E G H715711998ORPHA:524Li-Fraumeni syndromeHP:0040284 - Very rare911
HP:0002890HP:0002890Thyroid carcinoma0USF3 CL E G H20571730494ORPHA:201Cowden syndrome1
HP:0002890HP:0002890Thyroid carcinoma0WRN CL E G H748612791ORPHA:902Werner syndromeHP:0040283 - Occasional310
HP:0002890HP:0011779Anaplastic thyroid carcinoma1 CL E G H
HP:0002890HP:0006731Follicular thyroid carcinoma1AKT1 CL E G H207391ORPHA:201Cowden syndromeHP:0040283 - Occasional54
HP:0002890HP:0002895Papillary thyroid carcinoma1APC CL E G H324583OMIM:175100Adenomatous polyposis coli3179
HP:0002890HP:0002895Papillary thyroid carcinoma1APC CL E G H324583ORPHA:247806APC-related attenuated familial adenomatous polyposisHP:0040284 - Very rare3179
HP:0002890HP:0002895Papillary thyroid carcinoma1APC CL E G H324583ORPHA:79665Gardner syndromeHP:0040283 - Occasional3179
HP:0002890HP:0002895Papillary thyroid carcinoma1APC CL E G H324583ORPHA:99818Turcot syndrome with polyposisHP:0040283 - Occasional3179
HP:0002890HP:0002895Papillary thyroid carcinoma1ARID1A CL E G H828911110ORPHA:1465Coffin-Siris syndromeHP:0040284 - Very rare88
HP:0002890HP:0002895Papillary thyroid carcinoma1ARID1B CL E G H5749218040ORPHA:1465Coffin-Siris syndromeHP:0040284 - Very rare219
HP:0002890HP:0002895Papillary thyroid carcinoma1ARID2 CL E G H19652818037ORPHA:1465Coffin-Siris syndromeHP:0040284 - Very rare25
HP:0002890HP:0002895Papillary thyroid carcinoma1DICER1 CL E G H2340517098OMIM:138800Goiter, multinodular 1.670
HP:0002890HP:0002895Papillary thyroid carcinoma1DPF2 CL E G H59779964ORPHA:1465Coffin-Siris syndromeHP:0040284 - Very rare
HP:0002890HP:0002865Medullary thyroid carcinoma1FLCN CL E G H20116327310ORPHA:122Birt-Hogg-Dubé syndromeHP:0040283 - Occasional332
HP:0002890HP:0002895Papillary thyroid carcinoma1FOXE1 CL E G H23043806ORPHA:319487Familial papillary or follicular thyroid carcinomaHP:0040283 - Occasional9
HP:0002890HP:0006731Follicular thyroid carcinoma1FOXE1 CL E G H23043806ORPHA:319487Familial papillary or follicular thyroid carcinomaHP:0040281 - Very frequent9
HP:0002890HP:0002895Papillary thyroid carcinoma1FOXE1 CL E G H23043806OMIM:616534Thyroid cancer, nonmedullary, 49
HP:0002890HP:0006731Follicular thyroid carcinoma1HABP2 CL E G H30264798ORPHA:319487Familial papillary or follicular thyroid carcinomaHP:0040281 - Very frequent58
HP:0002890HP:0002895Papillary thyroid carcinoma1HABP2 CL E G H30264798ORPHA:319487Familial papillary or follicular thyroid carcinomaHP:0040283 - Occasional58
HP:0002890HP:0040198Non-medullary thyroid carcinoma1HABP2 CL E G H30264798OMIM:616535Thyroid cancer, nonmedullary, 5.58
HP:0002890HP:0006731Follicular thyroid carcinoma1HRAS CL E G H32655173OMIM:188470Thyroid cancer, nonmedullary, 2.113
HP:0002890HP:0002895Papillary thyroid carcinoma1HRAS CL E G H32655173OMIM:188470Thyroid cancer, nonmedullary, 2113
HP:0002890HP:0040198Non-medullary thyroid carcinoma1HRAS CL E G H32655173OMIM:188470Thyroid cancer, nonmedullary, 2.113
HP:0002890HP:0002895Papillary thyroid carcinoma1JAG1 CL E G H1826188OMIM:118450Alagille syndrome 1.257
HP:0002890HP:0006731Follicular thyroid carcinoma1KLLN CL E G H10014474837212ORPHA:201Cowden syndromeHP:0040283 - Occasional1
HP:0002890HP:0002895Papillary thyroid carcinoma1MINPP1 CL E G H95627102ORPHA:319487Familial papillary or follicular thyroid carcinomaHP:0040283 - Occasional3
HP:0002890HP:0006731Follicular thyroid carcinoma1MINPP1 CL E G H95627102ORPHA:319487Familial papillary or follicular thyroid carcinomaHP:0040281 - Very frequent3
HP:0002890HP:0040198Non-medullary thyroid carcinoma1MINPP1 CL E G H95627102OMIM:188470Thyroid cancer, nonmedullary, 2.3
HP:0002890HP:0002895Papillary thyroid carcinoma1MINPP1 CL E G H95627102OMIM:188470Thyroid cancer, nonmedullary, 23
HP:0002890HP:0006731Follicular thyroid carcinoma1MINPP1 CL E G H95627102OMIM:188470Thyroid cancer, nonmedullary, 2.3
HP:0002890HP:0002895Papillary thyroid carcinoma1NKX2-1 CL E G H708011825OMIM:188550Thyroid cancer, nonmedullary, 1.51
HP:0002890HP:0040198Non-medullary thyroid carcinoma1NKX2-1 CL E G H708011825OMIM:188550Thyroid cancer, nonmedullary, 1.51
HP:0002890HP:0006731Follicular thyroid carcinoma1NRAS CL E G H48937989OMIM:188470Thyroid cancer, nonmedullary, 2.102
HP:0002890HP:0002895Papillary thyroid carcinoma1NRAS CL E G H48937989OMIM:188470Thyroid cancer, nonmedullary, 2102
HP:0002890HP:0040198Non-medullary thyroid carcinoma1NRAS CL E G H48937989OMIM:188470Thyroid cancer, nonmedullary, 2.102
HP:0002890HP:0006731Follicular thyroid carcinoma1PDE11A CL E G H509408773ORPHA:1359Carney complex13
HP:0002890HP:0002895Papillary thyroid carcinoma1PDE11A CL E G H509408773ORPHA:1359Carney complex13
HP:0002890HP:0006731Follicular thyroid carcinoma1PIK3CA CL E G H52908975ORPHA:201Cowden syndromeHP:0040283 - Occasional162
HP:0002890HP:0002895Papillary thyroid carcinoma1PRKAR1A CL E G H55739388ORPHA:1359Carney complex134
HP:0002890HP:0006731Follicular thyroid carcinoma1PRKAR1A CL E G H55739388ORPHA:1359Carney complex134
HP:0002890HP:0006731Follicular thyroid carcinoma1PTEN CL E G H57289588ORPHA:201Cowden syndromeHP:0040283 - Occasional948
HP:0002890HP:0002865Medullary thyroid carcinoma1RET CL E G H59799967OMIM:171400Multiple endocrine neoplasia, type IIA572
HP:0002890HP:0002865Medullary thyroid carcinoma1RET CL E G H59799967OMIM:162300Multiple endocrine neoplasia, type IIB.572
HP:0002890HP:0002865Medullary thyroid carcinoma1RET CL E G H59799967OMIM:155240Thyroid carcinoma, familial medullary.572
HP:0002890HP:0006731Follicular thyroid carcinoma1SDHB CL E G H639010681ORPHA:201Cowden syndromeHP:0040283 - Occasional237
HP:0002890HP:0006731Follicular thyroid carcinoma1SDHC CL E G H639110682ORPHA:201Cowden syndromeHP:0040283 - Occasional147
HP:0002890HP:0006731Follicular thyroid carcinoma1SDHD CL E G H639210683ORPHA:201Cowden syndromeHP:0040283 - Occasional129
HP:0002890HP:0006731Follicular thyroid carcinoma1SEC23B CL E G H1048310702ORPHA:201Cowden syndromeHP:0040283 - Occasional60
HP:0002890HP:0002895Papillary thyroid carcinoma1SEC23B CL E G H1048310702OMIM:616858Cowden syndrome 760
HP:0002890HP:0002895Papillary thyroid carcinoma1SMARCA4 CL E G H659711100ORPHA:1465Coffin-Siris syndromeHP:0040284 - Very rare617
HP:0002890HP:0002895Papillary thyroid carcinoma1SMARCB1 CL E G H659811103ORPHA:1465Coffin-Siris syndromeHP:0040284 - Very rare87
HP:0002890HP:0002895Papillary thyroid carcinoma1SMARCC2 CL E G H660111105ORPHA:1465Coffin-Siris syndromeHP:0040284 - Very rare1
HP:0002890HP:0002895Papillary thyroid carcinoma1SMARCD1 CL E G H660211106ORPHA:1465Coffin-Siris syndromeHP:0040284 - Very rare
HP:0002890HP:0002895Papillary thyroid carcinoma1SMARCE1 CL E G H660511109ORPHA:1465Coffin-Siris syndromeHP:0040284 - Very rare47
HP:0002890HP:0002895Papillary thyroid carcinoma1SOX11 CL E G H666411191ORPHA:1465Coffin-Siris syndromeHP:0040284 - Very rare14
HP:0002890HP:0002895Papillary thyroid carcinoma1SOX4 CL E G H665911200ORPHA:1465Coffin-Siris syndromeHP:0040284 - Very rare
HP:0002890HP:0006731Follicular thyroid carcinoma1SRGAP1 CL E G H5752217382OMIM:188470Thyroid cancer, nonmedullary, 2.3
HP:0002890HP:0040198Non-medullary thyroid carcinoma1SRGAP1 CL E G H5752217382OMIM:188470Thyroid cancer, nonmedullary, 2.3
HP:0002890HP:0002895Papillary thyroid carcinoma1SRGAP1 CL E G H5752217382OMIM:188470Thyroid cancer, nonmedullary, 23
HP:0002890HP:0006731Follicular thyroid carcinoma1USF3 CL E G H20571730494ORPHA:201Cowden syndromeHP:0040283 - Occasional1


Genes (57) :AKT1 APC ARID1A ARID1B ARID2 BMPR1A CASP10 CDC73 CDKN1A CDKN1B CDKN2A CDKN2B CDKN2C CHEK2 DICER1 DPF2 FAS FASLG FLCN FOXE1 FOXI1 GREM1 HABP2 HRAS JAG1 KCNJ10 KEAP1 KLLN MDM2 MEN1 MINPP1 NKX2-1 NRAS PDE11A PIK3CA PRKAR1A PRKCD PTEN RASGRP1 RET SDHB SDHC SDHD SEC23B SLC26A4 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SOX11 SOX4 SRGAP1 TG TP53 USF3 WRN

Diseases (32) :ORPHA:201 OMIM:175100 ORPHA:247806 ORPHA:79665 ORPHA:99818 ORPHA:1465 ORPHA:157794 ORPHA:3261 ORPHA:99880 ORPHA:143 ORPHA:652 ORPHA:524 ORPHA:276399 OMIM:138800 ORPHA:122 ORPHA:319487 OMIM:616534 OMIM:274600 ORPHA:705 OMIM:616535 OMIM:188470 OMIM:118450 OMIM:188550 ORPHA:1359 OMIM:160980 ORPHA:109 OMIM:171400 OMIM:162300 OMIM:155240 OMIM:616858 OMIM:274700 ORPHA:902
 

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