Human Phenotype Ontology 
Grandparent Node:
expand
Phenotypic abnormality (HP:0000118)help
Parent Node:
expand
Abnormality of the endocrine system (HP:0000818)help
..Starting node
..expand
Abnormality of the thyroid gland (HP:0000820)help
Term ID: 820
Name: Abnormality of the thyroid gland
Synonym: Abnormality of the thyroid gland; Thyroid abnormality; Thyroid disease
Definition: An abnormality of the thyroid gland.
Comments:
Reference: HP:0000820
Genes and Diseases:
 
       Child Nodes:
........expandAbnormality of thyroid physiology (HP:0002926) help
................... HP:0000821 Hypothyroidism
................... HP:0000836 Hyperthyroidism
................... HP:0002930 Thyroid hormone receptor defect
................... HP:0008247 Euthyroid hyperthyroxinemia
................... HP:0008263 Thyroid defect in oxidation and organification of iodide
................... HP:0011789 Thyroid-stimulating hormone receptor defect
................... HP:0025482 Positive perchlorate discharge test
................... HP:0031221 Abnormal radioactive iodine uptake test result
................... HP:0031508 Abnormal thyroid hormone level
........expandAbnormality of thyroid morphology (HP:0011772) help
................... HP:0000853 Goiter
................... HP:0008188 Thyroid dysgenesis
................... HP:0008229 Thyroid lymphangiectasia
................... HP:0008249 Thyroid hyperplasia
................... HP:0010518 Thyroglossal cyst
................... HP:0025388 Thyroid nodule
................... HP:0100031 Neoplasm of the thyroid gland
................... HP:0100646 Thyroiditis

 Sister Nodes: 
..expandAbnormal circulating hormone concentration (HP:0003117) help
..expandAbnormal endocrine morphology (HP:0031071) help
..expandAbnormal endocrine physiology (HP:0031072) help
..expandAbnormal urine hormone level (HP:0012029) help
..expandAbnormality of endocrine pancreas physiology (HP:0012093) help
..expandAbnormality of renin-angiotensin system (HP:0000847) help
..expandAbnormality of the adrenal glands (HP:0000834) help
..expandAbnormality of the hypothalamus-pituitary axis (HP:0000864) help
..expandAbnormality of the parathyroid gland (HP:0000828) help
..expandAbnormality of the pineal gland (HP:0012680) help
..expandAbnormality of the thymus (HP:0000777) help
..expandDiabetes insipidus (HP:0000873) help
..expandDiabetes mellitus (HP:0000819) help
..expandNeoplasm of the endocrine system (HP:0100568) help
..expandPuberty and gonadal disorders (HP:0008373) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0000820HP:0000820Abnormality of the thyroid gland0CASR CL E G H846417Aloi Tomasini Isaia syndromeORPHA123301514601199
HP:0000820HP:0000820Abnormality of the thyroid gland0IL12A CL E G H3592186ORPHA1345969161560
HP:0000820HP:0000820Abnormality of the thyroid gland0IL12RB1 CL E G H3594186ORPHA14655971601604
HP:0000820HP:0000820Abnormality of the thyroid gland0INSR CL E G H3643769ORPHA16226091147670
HP:0000820HP:0000820Abnormality of the thyroid gland0IRF5 CL E G H3663186ORPHA1656120607218
HP:0000820HP:0000820Abnormality of the thyroid gland0MEN1 CL E G H4221131100Multiple endocrine neoplasia, type 1131100C0025267OMIM121737010613733
HP:0000820HP:0000820Abnormality of the thyroid gland0MMEL1 CL E G H79258186ORPHA118114668618104
HP:0000820HP:0000820Abnormality of the thyroid gland0POU2AF1 CL E G H5450186ORPHA1399211601206
HP:0000820HP:0000820Abnormality of the thyroid gland0RAI1 CL E G H10743182290Smith-Magenis syndrome182290C0795864OMIM116089834607642
HP:0000820HP:0000820Abnormality of the thyroid gland0SPIB CL E G H6689186ORPHA13411242606802
HP:0000820HP:0000820Abnormality of the thyroid gland0THRB CL E G H70683221Leisti Hollister Rimoin syndromeORPHA134811799190160
HP:0000820HP:0000820Abnormality of the thyroid gland0TNFSF15 CL E G H9966186ORPHA15011931604052
HP:0000820HP:0000820Abnormality of the thyroid gland0TNPO3 CL E G H23534186ORPHA157517103610032
HP:0000820HP:0011772Abnormal thyroid morphology1CASR CL E G H846417Aloi Tomasini Isaia syndromeORPHA123301514601199
HP:0000820HP:0002926Abnormality of thyroid physiology1CASR CL E G H846417Aloi Tomasini Isaia syndromeORPHA123301514601199
HP:0000820HP:0011772Abnormal thyroid morphology1IL12A CL E G H3592186ORPHA1345969161560
HP:0000820HP:0002926Abnormality of thyroid physiology1IL12A CL E G H3592186ORPHA1345969161560
HP:0000820HP:0011772Abnormal thyroid morphology1IL12RB1 CL E G H3594186ORPHA14655971601604
HP:0000820HP:0002926Abnormality of thyroid physiology1IL12RB1 CL E G H3594186ORPHA14655971601604
HP:0000820HP:0002926Abnormality of thyroid physiology1INSR CL E G H3643769ORPHA16226091147670
HP:0000820HP:0011772Abnormal thyroid morphology1INSR CL E G H3643769ORPHA16226091147670
HP:0000820HP:0011772Abnormal thyroid morphology1IRF5 CL E G H3663186ORPHA1656120607218
HP:0000820HP:0002926Abnormality of thyroid physiology1IRF5 CL E G H3663186ORPHA1656120607218
HP:0000820HP:0011772Abnormal thyroid morphology1MEN1 CL E G H4221131100Multiple endocrine neoplasia, type 1131100C0025267OMIM121737010613733
HP:0000820HP:0002926Abnormality of thyroid physiology1MEN1 CL E G H4221131100Multiple endocrine neoplasia, type 1131100C0025267OMIM121737010613733
HP:0000820HP:0011772Abnormal thyroid morphology1MMEL1 CL E G H79258186ORPHA118114668618104
HP:0000820HP:0002926Abnormality of thyroid physiology1MMEL1 CL E G H79258186ORPHA118114668618104
HP:0000820HP:0011772Abnormal thyroid morphology1POU2AF1 CL E G H5450186ORPHA1399211601206
HP:0000820HP:0002926Abnormality of thyroid physiology1POU2AF1 CL E G H5450186ORPHA1399211601206
HP:0000820HP:0011772Abnormal thyroid morphology1RAI1 CL E G H10743182290Smith-Magenis syndrome182290C0795864OMIM116089834607642
HP:0000820HP:0002926Abnormality of thyroid physiology1RAI1 CL E G H10743182290Smith-Magenis syndrome182290C0795864OMIM116089834607642
HP:0000820HP:0011772Abnormal thyroid morphology1SPIB CL E G H6689186ORPHA13411242606802
HP:0000820HP:0002926Abnormality of thyroid physiology1SPIB CL E G H6689186ORPHA13411242606802
HP:0000820HP:0002926Abnormality of thyroid physiology1THRB CL E G H70683221Leisti Hollister Rimoin syndromeORPHA134811799190160
HP:0000820HP:0011772Abnormal thyroid morphology1THRB CL E G H70683221Leisti Hollister Rimoin syndromeORPHA134811799190160
HP:0000820HP:0011772Abnormal thyroid morphology1TNFSF15 CL E G H9966186ORPHA15011931604052
HP:0000820HP:0002926Abnormality of thyroid physiology1TNFSF15 CL E G H9966186ORPHA15011931604052
HP:0000820HP:0011772Abnormal thyroid morphology1TNPO3 CL E G H23534186ORPHA157517103610032
HP:0000820HP:0002926Abnormality of thyroid physiology1TNPO3 CL E G H23534186ORPHA157517103610032
HP:0000820HP:0002930Impaired sensitivity to thyroid hormone2CASR CL E G H846417Aloi Tomasini Isaia syndromeORPHA123301514601199
HP:0000820HP:0025482Positive perchlorate discharge test2CASR CL E G H846417Aloi Tomasini Isaia syndromeORPHA123301514601199
HP:0000820HP:0100031Neoplasm of the thyroid gland2CASR CL E G H846417Aloi Tomasini Isaia syndromeORPHA123301514601199
HP:0000820HP:0008229Thyroid lymphangiectasia2CASR CL E G H846417Aloi Tomasini Isaia syndromeORPHA123301514601199
HP:0000820HP:0008247Euthyroid hyperthyroxinemia2CASR CL E G H846417Aloi Tomasini Isaia syndromeORPHA123301514601199
HP:0000820HP:0000821Hypothyroidism2CASR CL E G H846417Aloi Tomasini Isaia syndromeORPHA123301514601199
HP:0000820HP:0008249Thyroid hyperplasia2CASR CL E G H846417Aloi Tomasini Isaia syndromeORPHA123301514601199
HP:0000820HP:0100646Thyroiditis2CASR CL E G H846417Aloi Tomasini Isaia syndromeORPHA123301514601199
HP:0000820HP:0008188Thyroid dysgenesis2CASR CL E G H846417Aloi Tomasini Isaia syndromeORPHA123301514601199
HP:0000820HP:0025388Thyroid nodule2CASR CL E G H846417Aloi Tomasini Isaia syndromeORPHA123301514601199
HP:0000820HP:0031221Abnormal radioactive iodine uptake test result2CASR CL E G H846417Aloi Tomasini Isaia syndromeORPHA123301514601199
HP:0000820HP:0010518Thyroglossal cyst2CASR CL E G H846417Aloi Tomasini Isaia syndromeORPHA123301514601199
HP:0000820HP:0011789Impaired sensitivity to thyroid stimulating hormone2CASR CL E G H846417Aloi Tomasini Isaia syndromeORPHA123301514601199
HP:0000820HP:0008263Thyroid defect in oxidation and organification of iodide2CASR CL E G H846417Aloi Tomasini Isaia syndromeORPHA123301514601199
HP:0000820HP:0033079Aplasia/Hypoplasia of the thyroid gland2CASR CL E G H846417Aloi Tomasini Isaia syndromeORPHA123301514601199
HP:0000820HP:0031508Abnormal thyroid hormone level2CASR CL E G H846417Aloi Tomasini Isaia syndromeORPHA123301514601199
HP:0000820HP:0033080Abnormal TSH response to thyrotrophin-releasing hormone stimulation test2CASR CL E G H846417Aloi Tomasini Isaia syndromeORPHA123301514601199
HP:0000820HP:0000853Goiter2CASR CL E G H846417Aloi Tomasini Isaia syndromeORPHA123301514601199
HP:0000820HP:0000836Hyperthyroidism2CASR CL E G H846417Aloi Tomasini Isaia syndromeORPHA123301514601199
HP:0000820HP:0008229Thyroid lymphangiectasia2IL12A CL E G H3592186ORPHA1345969161560
HP:0000820HP:0008247Euthyroid hyperthyroxinemia2IL12A CL E G H3592186ORPHA1345969161560
HP:0000820HP:0100031Neoplasm of the thyroid gland2IL12A CL E G H3592186ORPHA1345969161560
HP:0000820HP:0000821Hypothyroidism2IL12A CL E G H3592186ORPHA1345969161560
HP:0000820HP:0100646Thyroiditis2IL12A CL E G H3592186ORPHA1345969161560
HP:0000820HP:0008188Thyroid dysgenesis2IL12A CL E G H3592186ORPHA1345969161560
HP:0000820HP:0008249Thyroid hyperplasia2IL12A CL E G H3592186ORPHA1345969161560
HP:0000820HP:0031221Abnormal radioactive iodine uptake test result2IL12A CL E G H3592186ORPHA1345969161560
HP:0000820HP:0011789Impaired sensitivity to thyroid stimulating hormone2IL12A CL E G H3592186ORPHA1345969161560
HP:0000820HP:0008263Thyroid defect in oxidation and organification of iodide2IL12A CL E G H3592186ORPHA1345969161560
HP:0000820HP:0010518Thyroglossal cyst2IL12A CL E G H3592186ORPHA1345969161560
HP:0000820HP:0025388Thyroid nodule2IL12A CL E G H3592186ORPHA1345969161560
HP:0000820HP:0033079Aplasia/Hypoplasia of the thyroid gland2IL12A CL E G H3592186ORPHA1345969161560
HP:0000820HP:0002930Impaired sensitivity to thyroid hormone2IL12A CL E G H3592186ORPHA1345969161560
HP:0000820HP:0031508Abnormal thyroid hormone level2IL12A CL E G H3592186ORPHA1345969161560
HP:0000820HP:0033080Abnormal TSH response to thyrotrophin-releasing hormone stimulation test2IL12A CL E G H3592186ORPHA1345969161560
HP:0000820HP:0000853Goiter2IL12A CL E G H3592186ORPHA1345969161560
HP:0000820HP:0025482Positive perchlorate discharge test2IL12A CL E G H3592186ORPHA1345969161560
HP:0000820HP:0000836Hyperthyroidism2IL12A CL E G H3592186ORPHA1345969161560
HP:0000820HP:0100031Neoplasm of the thyroid gland2IL12RB1 CL E G H3594186ORPHA14655971601604
HP:0000820HP:0000821Hypothyroidism2IL12RB1 CL E G H3594186ORPHA14655971601604
HP:0000820HP:0008229Thyroid lymphangiectasia2IL12RB1 CL E G H3594186ORPHA14655971601604
HP:0000820HP:0008247Euthyroid hyperthyroxinemia2IL12RB1 CL E G H3594186ORPHA14655971601604
HP:0000820HP:0008249Thyroid hyperplasia2IL12RB1 CL E G H3594186ORPHA14655971601604
HP:0000820HP:0100646Thyroiditis2IL12RB1 CL E G H3594186ORPHA14655971601604
HP:0000820HP:0008188Thyroid dysgenesis2IL12RB1 CL E G H3594186ORPHA14655971601604
HP:0000820HP:0025388Thyroid nodule2IL12RB1 CL E G H3594186ORPHA14655971601604
HP:0000820HP:0031221Abnormal radioactive iodine uptake test result2IL12RB1 CL E G H3594186ORPHA14655971601604
HP:0000820HP:0011789Impaired sensitivity to thyroid stimulating hormone2IL12RB1 CL E G H3594186ORPHA14655971601604
HP:0000820HP:0008263Thyroid defect in oxidation and organification of iodide2IL12RB1 CL E G H3594186ORPHA14655971601604
HP:0000820HP:0010518Thyroglossal cyst2IL12RB1 CL E G H3594186ORPHA14655971601604
HP:0000820HP:0033079Aplasia/Hypoplasia of the thyroid gland2IL12RB1 CL E G H3594186ORPHA14655971601604
HP:0000820HP:0002930Impaired sensitivity to thyroid hormone2IL12RB1 CL E G H3594186ORPHA14655971601604
HP:0000820HP:0031508Abnormal thyroid hormone level2IL12RB1 CL E G H3594186ORPHA14655971601604
HP:0000820HP:0033080Abnormal TSH response to thyrotrophin-releasing hormone stimulation test2IL12RB1 CL E G H3594186ORPHA14655971601604
HP:0000820HP:0000853Goiter2IL12RB1 CL E G H3594186ORPHA14655971601604
HP:0000820HP:0025482Positive perchlorate discharge test2IL12RB1 CL E G H3594186ORPHA14655971601604
HP:0000820HP:0000836Hyperthyroidism2IL12RB1 CL E G H3594186ORPHA14655971601604
HP:0000820HP:0031508Abnormal thyroid hormone level2INSR CL E G H3643769ORPHA16226091147670
HP:0000820HP:0033080Abnormal TSH response to thyrotrophin-releasing hormone stimulation test2INSR CL E G H3643769ORPHA16226091147670
HP:0000820HP:0000853Goiter2INSR CL E G H3643769ORPHA16226091147670
HP:0000820HP:0025482Positive perchlorate discharge test2INSR CL E G H3643769ORPHA16226091147670
HP:0000820HP:0000836Hyperthyroidism2INSR CL E G H3643769ORPHA16226091147670
HP:0000820HP:0033079Aplasia/Hypoplasia of the thyroid gland2INSR CL E G H3643769ORPHA16226091147670
HP:0000820HP:0002930Impaired sensitivity to thyroid hormone2INSR CL E G H3643769ORPHA16226091147670
HP:0000820HP:0008247Euthyroid hyperthyroxinemia2INSR CL E G H3643769ORPHA16226091147670
HP:0000820HP:0100031Neoplasm of the thyroid gland2INSR CL E G H3643769ORPHA16226091147670
HP:0000820HP:0000821Hypothyroidism2INSR CL E G H3643769ORPHA16226091147670
HP:0000820HP:0008229Thyroid lymphangiectasia2INSR CL E G H3643769ORPHA16226091147670
HP:0000820HP:0008188Thyroid dysgenesis2INSR CL E G H3643769ORPHA16226091147670
HP:0000820HP:0008249Thyroid hyperplasia2INSR CL E G H3643769ORPHA16226091147670
HP:0000820HP:0100646Thyroiditis2INSR CL E G H3643769ORPHA16226091147670
HP:0000820HP:0008263Thyroid defect in oxidation and organification of iodide2INSR CL E G H3643769ORPHA16226091147670
HP:0000820HP:0010518Thyroglossal cyst2INSR CL E G H3643769ORPHA16226091147670
HP:0000820HP:0025388Thyroid nodule2INSR CL E G H3643769ORPHA16226091147670
HP:0000820HP:0031221Abnormal radioactive iodine uptake test result2INSR CL E G H3643769ORPHA16226091147670
HP:0000820HP:0011789Impaired sensitivity to thyroid stimulating hormone2INSR CL E G H3643769ORPHA16226091147670
HP:0000820HP:0008247Euthyroid hyperthyroxinemia2IRF5 CL E G H3663186ORPHA1656120607218
HP:0000820HP:0100031Neoplasm of the thyroid gland2IRF5 CL E G H3663186ORPHA1656120607218
HP:0000820HP:0000821Hypothyroidism2IRF5 CL E G H3663186ORPHA1656120607218
HP:0000820HP:0008229Thyroid lymphangiectasia2IRF5 CL E G H3663186ORPHA1656120607218
HP:0000820HP:0008188Thyroid dysgenesis2IRF5 CL E G H3663186ORPHA1656120607218
HP:0000820HP:0008249Thyroid hyperplasia2IRF5 CL E G H3663186ORPHA1656120607218
HP:0000820HP:0100646Thyroiditis2IRF5 CL E G H3663186ORPHA1656120607218
HP:0000820HP:0008263Thyroid defect in oxidation and organification of iodide2IRF5 CL E G H3663186ORPHA1656120607218
HP:0000820HP:0011789Impaired sensitivity to thyroid stimulating hormone2IRF5 CL E G H3663186ORPHA1656120607218
HP:0000820HP:0010518Thyroglossal cyst2IRF5 CL E G H3663186ORPHA1656120607218
HP:0000820HP:0025388Thyroid nodule2IRF5 CL E G H3663186ORPHA1656120607218
HP:0000820HP:0031221Abnormal radioactive iodine uptake test result2IRF5 CL E G H3663186ORPHA1656120607218
HP:0000820HP:0025482Positive perchlorate discharge test2IRF5 CL E G H3663186ORPHA1656120607218
HP:0000820HP:0002930Impaired sensitivity to thyroid hormone2IRF5 CL E G H3663186ORPHA1656120607218
HP:0000820HP:0000853Goiter2IRF5 CL E G H3663186ORPHA1656120607218
HP:0000820HP:0000836Hyperthyroidism2IRF5 CL E G H3663186ORPHA1656120607218
HP:0000820HP:0033079Aplasia/Hypoplasia of the thyroid gland2IRF5 CL E G H3663186ORPHA1656120607218
HP:0000820HP:0031508Abnormal thyroid hormone level2IRF5 CL E G H3663186ORPHA1656120607218
HP:0000820HP:0033080Abnormal TSH response to thyrotrophin-releasing hormone stimulation test2IRF5 CL E G H3663186ORPHA1656120607218
HP:0000820HP:0000821Hypothyroidism2MEN1 CL E G H4221131100Multiple endocrine neoplasia, type 1131100C0025267OMIM121737010613733
HP:0000820HP:0008229Thyroid lymphangiectasia2MEN1 CL E G H4221131100Multiple endocrine neoplasia, type 1131100C0025267OMIM121737010613733
HP:0000820HP:0008247Euthyroid hyperthyroxinemia2MEN1 CL E G H4221131100Multiple endocrine neoplasia, type 1131100C0025267OMIM121737010613733
HP:0000820HP:0100031Neoplasm of the thyroid gland2MEN1 CL E G H4221131100Multiple endocrine neoplasia, type 1131100C0025267OMIM121737010613733
HP:0000820HP:0100646Thyroiditis2MEN1 CL E G H4221131100Multiple endocrine neoplasia, type 1131100C0025267OMIM121737010613733
HP:0000820HP:0008188Thyroid dysgenesis2MEN1 CL E G H4221131100Multiple endocrine neoplasia, type 1131100C0025267OMIM121737010613733
HP:0000820HP:0008249Thyroid hyperplasia2MEN1 CL E G H4221131100Multiple endocrine neoplasia, type 1131100C0025267OMIM121737010613733
HP:0000820HP:0025388Thyroid nodule2MEN1 CL E G H4221131100Multiple endocrine neoplasia, type 1131100C0025267OMIM121737010613733
HP:0000820HP:0031221Abnormal radioactive iodine uptake test result2MEN1 CL E G H4221131100Multiple endocrine neoplasia, type 1131100C0025267OMIM121737010613733
HP:0000820HP:0011789Impaired sensitivity to thyroid stimulating hormone2MEN1 CL E G H4221131100Multiple endocrine neoplasia, type 1131100C0025267OMIM121737010613733
HP:0000820HP:0008263Thyroid defect in oxidation and organification of iodide2MEN1 CL E G H4221131100Multiple endocrine neoplasia, type 1131100C0025267OMIM121737010613733
HP:0000820HP:0010518Thyroglossal cyst2MEN1 CL E G H4221131100Multiple endocrine neoplasia, type 1131100C0025267OMIM121737010613733
HP:0000820HP:0033079Aplasia/Hypoplasia of the thyroid gland2MEN1 CL E G H4221131100Multiple endocrine neoplasia, type 1131100C0025267OMIM121737010613733
HP:0000820HP:0002930Impaired sensitivity to thyroid hormone2MEN1 CL E G H4221131100Multiple endocrine neoplasia, type 1131100C0025267OMIM121737010613733
HP:0000820HP:0031508Abnormal thyroid hormone level2MEN1 CL E G H4221131100Multiple endocrine neoplasia, type 1131100C0025267OMIM121737010613733
HP:0000820HP:0033080Abnormal TSH response to thyrotrophin-releasing hormone stimulation test2MEN1 CL E G H4221131100Multiple endocrine neoplasia, type 1131100C0025267OMIM121737010613733
HP:0000820HP:0000853Goiter2MEN1 CL E G H4221131100Multiple endocrine neoplasia, type 1131100C0025267OMIM121737010613733
HP:0000820HP:0025482Positive perchlorate discharge test2MEN1 CL E G H4221131100Multiple endocrine neoplasia, type 1131100C0025267OMIM121737010613733
HP:0000820HP:0000836Hyperthyroidism2MEN1 CL E G H4221131100Multiple endocrine neoplasia, type 1131100C0025267OMIM121737010613733
HP:0000820HP:0008229Thyroid lymphangiectasia2MMEL1 CL E G H79258186ORPHA118114668618104
HP:0000820HP:0008247Euthyroid hyperthyroxinemia2MMEL1 CL E G H79258186ORPHA118114668618104
HP:0000820HP:0100031Neoplasm of the thyroid gland2MMEL1 CL E G H79258186ORPHA118114668618104
HP:0000820HP:0000821Hypothyroidism2MMEL1 CL E G H79258186ORPHA118114668618104
HP:0000820HP:0008188Thyroid dysgenesis2MMEL1 CL E G H79258186ORPHA118114668618104
HP:0000820HP:0008249Thyroid hyperplasia2MMEL1 CL E G H79258186ORPHA118114668618104
HP:0000820HP:0100646Thyroiditis2MMEL1 CL E G H79258186ORPHA118114668618104
HP:0000820HP:0031221Abnormal radioactive iodine uptake test result2MMEL1 CL E G H79258186ORPHA118114668618104
HP:0000820HP:0011789Impaired sensitivity to thyroid stimulating hormone2MMEL1 CL E G H79258186ORPHA118114668618104
HP:0000820HP:0008263Thyroid defect in oxidation and organification of iodide2MMEL1 CL E G H79258186ORPHA118114668618104
HP:0000820HP:0010518Thyroglossal cyst2MMEL1 CL E G H79258186ORPHA118114668618104
HP:0000820HP:0025388Thyroid nodule2MMEL1 CL E G H79258186ORPHA118114668618104
HP:0000820HP:0033079Aplasia/Hypoplasia of the thyroid gland2MMEL1 CL E G H79258186ORPHA118114668618104
HP:0000820HP:0002930Impaired sensitivity to thyroid hormone2MMEL1 CL E G H79258186ORPHA118114668618104
HP:0000820HP:0031508Abnormal thyroid hormone level2MMEL1 CL E G H79258186ORPHA118114668618104
HP:0000820HP:0033080Abnormal TSH response to thyrotrophin-releasing hormone stimulation test2MMEL1 CL E G H79258186ORPHA118114668618104
HP:0000820HP:0000853Goiter2MMEL1 CL E G H79258186ORPHA118114668618104
HP:0000820HP:0025482Positive perchlorate discharge test2MMEL1 CL E G H79258186ORPHA118114668618104
HP:0000820HP:0000836Hyperthyroidism2MMEL1 CL E G H79258186ORPHA118114668618104
HP:0000820HP:0000821Hypothyroidism2POU2AF1 CL E G H5450186ORPHA1399211601206
HP:0000820HP:0008229Thyroid lymphangiectasia2POU2AF1 CL E G H5450186ORPHA1399211601206
HP:0000820HP:0008247Euthyroid hyperthyroxinemia2POU2AF1 CL E G H5450186ORPHA1399211601206
HP:0000820HP:0100031Neoplasm of the thyroid gland2POU2AF1 CL E G H5450186ORPHA1399211601206
HP:0000820HP:0100646Thyroiditis2POU2AF1 CL E G H5450186ORPHA1399211601206
HP:0000820HP:0008188Thyroid dysgenesis2POU2AF1 CL E G H5450186ORPHA1399211601206
HP:0000820HP:0008249Thyroid hyperplasia2POU2AF1 CL E G H5450186ORPHA1399211601206
HP:0000820HP:0025388Thyroid nodule2POU2AF1 CL E G H5450186ORPHA1399211601206
HP:0000820HP:0031221Abnormal radioactive iodine uptake test result2POU2AF1 CL E G H5450186ORPHA1399211601206
HP:0000820HP:0011789Impaired sensitivity to thyroid stimulating hormone2POU2AF1 CL E G H5450186ORPHA1399211601206
HP:0000820HP:0008263Thyroid defect in oxidation and organification of iodide2POU2AF1 CL E G H5450186ORPHA1399211601206
HP:0000820HP:0010518Thyroglossal cyst2POU2AF1 CL E G H5450186ORPHA1399211601206
HP:0000820HP:0033079Aplasia/Hypoplasia of the thyroid gland2POU2AF1 CL E G H5450186ORPHA1399211601206
HP:0000820HP:0002930Impaired sensitivity to thyroid hormone2POU2AF1 CL E G H5450186ORPHA1399211601206
HP:0000820HP:0031508Abnormal thyroid hormone level2POU2AF1 CL E G H5450186ORPHA1399211601206
HP:0000820HP:0033080Abnormal TSH response to thyrotrophin-releasing hormone stimulation test2POU2AF1 CL E G H5450186ORPHA1399211601206
HP:0000820HP:0000853Goiter2POU2AF1 CL E G H5450186ORPHA1399211601206
HP:0000820HP:0025482Positive perchlorate discharge test2POU2AF1 CL E G H5450186ORPHA1399211601206
HP:0000820HP:0000836Hyperthyroidism2POU2AF1 CL E G H5450186ORPHA1399211601206
HP:0000820HP:0100031Neoplasm of the thyroid gland2RAI1 CL E G H10743182290Smith-Magenis syndrome182290C0795864OMIM116089834607642
HP:0000820HP:0000821Hypothyroidism2RAI1 CL E G H10743182290Smith-Magenis syndrome182290C0795864OMIM116089834607642
HP:0000820HP:0008229Thyroid lymphangiectasia2RAI1 CL E G H10743182290Smith-Magenis syndrome182290C0795864OMIM116089834607642
HP:0000820HP:0008247Euthyroid hyperthyroxinemia2RAI1 CL E G H10743182290Smith-Magenis syndrome182290C0795864OMIM116089834607642
HP:0000820HP:0008188Thyroid dysgenesis2RAI1 CL E G H10743182290Smith-Magenis syndrome182290C0795864OMIM116089834607642
HP:0000820HP:0008249Thyroid hyperplasia2RAI1 CL E G H10743182290Smith-Magenis syndrome182290C0795864OMIM116089834607642
HP:0000820HP:0100646Thyroiditis2RAI1 CL E G H10743182290Smith-Magenis syndrome182290C0795864OMIM116089834607642
HP:0000820HP:0025388Thyroid nodule2RAI1 CL E G H10743182290Smith-Magenis syndrome182290C0795864OMIM116089834607642
HP:0000820HP:0031221Abnormal radioactive iodine uptake test result2RAI1 CL E G H10743182290Smith-Magenis syndrome182290C0795864OMIM116089834607642
HP:0000820HP:0011789Impaired sensitivity to thyroid stimulating hormone2RAI1 CL E G H10743182290Smith-Magenis syndrome182290C0795864OMIM116089834607642
HP:0000820HP:0008263Thyroid defect in oxidation and organification of iodide2RAI1 CL E G H10743182290Smith-Magenis syndrome182290C0795864OMIM116089834607642
HP:0000820HP:0010518Thyroglossal cyst2RAI1 CL E G H10743182290Smith-Magenis syndrome182290C0795864OMIM116089834607642
HP:0000820HP:0033079Aplasia/Hypoplasia of the thyroid gland2RAI1 CL E G H10743182290Smith-Magenis syndrome182290C0795864OMIM116089834607642
HP:0000820HP:0002930Impaired sensitivity to thyroid hormone2RAI1 CL E G H10743182290Smith-Magenis syndrome182290C0795864OMIM116089834607642
HP:0000820HP:0031508Abnormal thyroid hormone level2RAI1 CL E G H10743182290Smith-Magenis syndrome182290C0795864OMIM116089834607642
HP:0000820HP:0033080Abnormal TSH response to thyrotrophin-releasing hormone stimulation test2RAI1 CL E G H10743182290Smith-Magenis syndrome182290C0795864OMIM116089834607642
HP:0000820HP:0000853Goiter2RAI1 CL E G H10743182290Smith-Magenis syndrome182290C0795864OMIM116089834607642
HP:0000820HP:0025482Positive perchlorate discharge test2RAI1 CL E G H10743182290Smith-Magenis syndrome182290C0795864OMIM116089834607642
HP:0000820HP:0000836Hyperthyroidism2RAI1 CL E G H10743182290Smith-Magenis syndrome182290C0795864OMIM116089834607642
HP:0000820HP:0100031Neoplasm of the thyroid gland2SPIB CL E G H6689186ORPHA13411242606802
HP:0000820HP:0000821Hypothyroidism2SPIB CL E G H6689186ORPHA13411242606802
HP:0000820HP:0008229Thyroid lymphangiectasia2SPIB CL E G H6689186ORPHA13411242606802
HP:0000820HP:0008247Euthyroid hyperthyroxinemia2SPIB CL E G H6689186ORPHA13411242606802
HP:0000820HP:0008188Thyroid dysgenesis2SPIB CL E G H6689186ORPHA13411242606802
HP:0000820HP:0008249Thyroid hyperplasia2SPIB CL E G H6689186ORPHA13411242606802
HP:0000820HP:0100646Thyroiditis2SPIB CL E G H6689186ORPHA13411242606802
HP:0000820HP:0010518Thyroglossal cyst2SPIB CL E G H6689186ORPHA13411242606802
HP:0000820HP:0025388Thyroid nodule2SPIB CL E G H6689186ORPHA13411242606802
HP:0000820HP:0031221Abnormal radioactive iodine uptake test result2SPIB CL E G H6689186ORPHA13411242606802
HP:0000820HP:0011789Impaired sensitivity to thyroid stimulating hormone2SPIB CL E G H6689186ORPHA13411242606802
HP:0000820HP:0008263Thyroid defect in oxidation and organification of iodide2SPIB CL E G H6689186ORPHA13411242606802
HP:0000820HP:0000836Hyperthyroidism2SPIB CL E G H6689186ORPHA13411242606802
HP:0000820HP:0033079Aplasia/Hypoplasia of the thyroid gland2SPIB CL E G H6689186ORPHA13411242606802
HP:0000820HP:0002930Impaired sensitivity to thyroid hormone2SPIB CL E G H6689186ORPHA13411242606802
HP:0000820HP:0031508Abnormal thyroid hormone level2SPIB CL E G H6689186ORPHA13411242606802
HP:0000820HP:0033080Abnormal TSH response to thyrotrophin-releasing hormone stimulation test2SPIB CL E G H6689186ORPHA13411242606802
HP:0000820HP:0000853Goiter2SPIB CL E G H6689186ORPHA13411242606802
HP:0000820HP:0025482Positive perchlorate discharge test2SPIB CL E G H6689186ORPHA13411242606802
HP:0000820HP:0033079Aplasia/Hypoplasia of the thyroid gland2THRB CL E G H70683221Leisti Hollister Rimoin syndromeORPHA134811799190160
HP:0000820HP:0002930Impaired sensitivity to thyroid hormone2THRB CL E G H70683221Leisti Hollister Rimoin syndromeORPHA134811799190160
HP:0000820HP:0031508Abnormal thyroid hormone level2THRB CL E G H70683221Leisti Hollister Rimoin syndromeORPHA134811799190160
HP:0000820HP:0033080Abnormal TSH response to thyrotrophin-releasing hormone stimulation test2THRB CL E G H70683221Leisti Hollister Rimoin syndromeORPHA134811799190160
HP:0000820HP:0000853Goiter2THRB CL E G H70683221Leisti Hollister Rimoin syndromeORPHA134811799190160
HP:0000820HP:0025482Positive perchlorate discharge test2THRB CL E G H70683221Leisti Hollister Rimoin syndromeORPHA134811799190160
HP:0000820HP:0000836Hyperthyroidism2THRB CL E G H70683221Leisti Hollister Rimoin syndromeORPHA134811799190160
HP:0000820HP:0100031Neoplasm of the thyroid gland2THRB CL E G H70683221Leisti Hollister Rimoin syndromeORPHA134811799190160
HP:0000820HP:0000821Hypothyroidism2THRB CL E G H70683221Leisti Hollister Rimoin syndromeORPHA134811799190160
HP:0000820HP:0008229Thyroid lymphangiectasia2THRB CL E G H70683221Leisti Hollister Rimoin syndromeORPHA134811799190160
HP:0000820HP:0008247Euthyroid hyperthyroxinemia2THRB CL E G H70683221Leisti Hollister Rimoin syndromeORPHA134811799190160
HP:0000820HP:0008249Thyroid hyperplasia2THRB CL E G H70683221Leisti Hollister Rimoin syndromeORPHA134811799190160
HP:0000820HP:0100646Thyroiditis2THRB CL E G H70683221Leisti Hollister Rimoin syndromeORPHA134811799190160
HP:0000820HP:0008188Thyroid dysgenesis2THRB CL E G H70683221Leisti Hollister Rimoin syndromeORPHA134811799190160
HP:0000820HP:0025388Thyroid nodule2THRB CL E G H70683221Leisti Hollister Rimoin syndromeORPHA134811799190160
HP:0000820HP:0031221Abnormal radioactive iodine uptake test result2THRB CL E G H70683221Leisti Hollister Rimoin syndromeORPHA134811799190160
HP:0000820HP:0011789Impaired sensitivity to thyroid stimulating hormone2THRB CL E G H70683221Leisti Hollister Rimoin syndromeORPHA134811799190160
HP:0000820HP:0008263Thyroid defect in oxidation and organification of iodide2THRB CL E G H70683221Leisti Hollister Rimoin syndromeORPHA134811799190160
HP:0000820HP:0010518Thyroglossal cyst2THRB CL E G H70683221Leisti Hollister Rimoin syndromeORPHA134811799190160
HP:0000820HP:0008229Thyroid lymphangiectasia2TNFSF15 CL E G H9966186ORPHA15011931604052
HP:0000820HP:0008247Euthyroid hyperthyroxinemia2TNFSF15 CL E G H9966186ORPHA15011931604052
HP:0000820HP:0100031Neoplasm of the thyroid gland2TNFSF15 CL E G H9966186ORPHA15011931604052
HP:0000820HP:0000821Hypothyroidism2TNFSF15 CL E G H9966186ORPHA15011931604052
HP:0000820HP:0008188Thyroid dysgenesis2TNFSF15 CL E G H9966186ORPHA15011931604052
HP:0000820HP:0008249Thyroid hyperplasia2TNFSF15 CL E G H9966186ORPHA15011931604052
HP:0000820HP:0100646Thyroiditis2TNFSF15 CL E G H9966186ORPHA15011931604052
HP:0000820HP:0011789Impaired sensitivity to thyroid stimulating hormone2TNFSF15 CL E G H9966186ORPHA15011931604052
HP:0000820HP:0008263Thyroid defect in oxidation and organification of iodide2TNFSF15 CL E G H9966186ORPHA15011931604052
HP:0000820HP:0010518Thyroglossal cyst2TNFSF15 CL E G H9966186ORPHA15011931604052
HP:0000820HP:0025388Thyroid nodule2TNFSF15 CL E G H9966186ORPHA15011931604052
HP:0000820HP:0031221Abnormal radioactive iodine uptake test result2TNFSF15 CL E G H9966186ORPHA15011931604052
HP:0000820HP:0031508Abnormal thyroid hormone level2TNFSF15 CL E G H9966186ORPHA15011931604052
HP:0000820HP:0033080Abnormal TSH response to thyrotrophin-releasing hormone stimulation test2TNFSF15 CL E G H9966186ORPHA15011931604052
HP:0000820HP:0000853Goiter2TNFSF15 CL E G H9966186ORPHA15011931604052
HP:0000820HP:0025482Positive perchlorate discharge test2TNFSF15 CL E G H9966186ORPHA15011931604052
HP:0000820HP:0000836Hyperthyroidism2TNFSF15 CL E G H9966186ORPHA15011931604052
HP:0000820HP:0033079Aplasia/Hypoplasia of the thyroid gland2TNFSF15 CL E G H9966186ORPHA15011931604052
HP:0000820HP:0002930Impaired sensitivity to thyroid hormone2TNFSF15 CL E G H9966186ORPHA15011931604052
HP:0000820HP:0000821Hypothyroidism2TNPO3 CL E G H23534186ORPHA157517103610032
HP:0000820HP:0008229Thyroid lymphangiectasia2TNPO3 CL E G H23534186ORPHA157517103610032
HP:0000820HP:0008247Euthyroid hyperthyroxinemia2TNPO3 CL E G H23534186ORPHA157517103610032
HP:0000820HP:0100031Neoplasm of the thyroid gland2TNPO3 CL E G H23534186ORPHA157517103610032
HP:0000820HP:0100646Thyroiditis2TNPO3 CL E G H23534186ORPHA157517103610032
HP:0000820HP:0008188Thyroid dysgenesis2TNPO3 CL E G H23534186ORPHA157517103610032
HP:0000820HP:0008249Thyroid hyperplasia2TNPO3 CL E G H23534186ORPHA157517103610032
HP:0000820HP:0025388Thyroid nodule2TNPO3 CL E G H23534186ORPHA157517103610032
HP:0000820HP:0031221Abnormal radioactive iodine uptake test result2TNPO3 CL E G H23534186ORPHA157517103610032
HP:0000820HP:0011789Impaired sensitivity to thyroid stimulating hormone2TNPO3 CL E G H23534186ORPHA157517103610032
HP:0000820HP:0008263Thyroid defect in oxidation and organification of iodide2TNPO3 CL E G H23534186ORPHA157517103610032
HP:0000820HP:0010518Thyroglossal cyst2TNPO3 CL E G H23534186ORPHA157517103610032
HP:0000820HP:0033079Aplasia/Hypoplasia of the thyroid gland2TNPO3 CL E G H23534186ORPHA157517103610032
HP:0000820HP:0002930Impaired sensitivity to thyroid hormone2TNPO3 CL E G H23534186ORPHA157517103610032
HP:0000820HP:0031508Abnormal thyroid hormone level2TNPO3 CL E G H23534186ORPHA157517103610032
HP:0000820HP:0033080Abnormal TSH response to thyrotrophin-releasing hormone stimulation test2TNPO3 CL E G H23534186ORPHA157517103610032
HP:0000820HP:0000853Goiter2TNPO3 CL E G H23534186ORPHA157517103610032
HP:0000820HP:0025482Positive perchlorate discharge test2TNPO3 CL E G H23534186ORPHA157517103610032
HP:0000820HP:0000836Hyperthyroidism2TNPO3 CL E G H23534186ORPHA157517103610032
HP:0000820HP:0011787Central hypothyroidism3CASR CL E G H846417Aloi Tomasini Isaia syndromeORPHA123301514601199
HP:0000820HP:0100028Ectopic thyroid3CASR CL E G H846417Aloi Tomasini Isaia syndromeORPHA123301514601199
HP:0000820HP:0031505Abnormal circulating T4 level3CASR CL E G H846417Aloi Tomasini Isaia syndromeORPHA123301514601199
HP:0000820HP:0011784Thyrotoxicosis with diffuse goiter3CASR CL E G H846417Aloi Tomasini Isaia syndromeORPHA123301514601199
HP:0000820HP:0011781Thyroid C cell hyperplasia3CASR CL E G H846417Aloi Tomasini Isaia syndromeORPHA123301514601199
HP:0000820HP:0000872Hashimoto thyroiditis3CASR CL E G H846417Aloi Tomasini Isaia syndromeORPHA123301514601199
HP:0000820HP:0002890Thyroid carcinoma3CASR CL E G H846417Aloi Tomasini Isaia syndromeORPHA123301514601199
HP:0000820HP:0031219Reduced radioactive iodine uptake3CASR CL E G H846417Aloi Tomasini Isaia syndromeORPHA123301514601199
HP:0000820HP:0005990Thyroid hypoplasia3CASR CL E G H846417Aloi Tomasini Isaia syndromeORPHA123301514601199
HP:0000820HP:0000832Primary hypothyroidism3CASR CL E G H846417Aloi Tomasini Isaia syndromeORPHA123301514601199
HP:0000820HP:0011791Inactivating thyroid-stimulating hormone receptor defect3CASR CL E G H846417Aloi Tomasini Isaia syndromeORPHA123301514601199
HP:0000820HP:0011783Thyrotoxicosis from ectopic thyroid tissue3CASR CL E G H846417Aloi Tomasini Isaia syndromeORPHA123301514601199
HP:0000820HP:0012558Abnormal T3/T4 ratio3CASR CL E G H846417Aloi Tomasini Isaia syndromeORPHA123301514601199
HP:0000820HP:0031220Increased radioactive iodine uptake3CASR CL E G H846417Aloi Tomasini Isaia syndromeORPHA123301514601199
HP:0000820HP:0011780Thyroid hemiagenesis3CASR CL E G H846417Aloi Tomasini Isaia syndromeORPHA123301514601199
HP:0000820HP:0033082Reduced TSH response to thyrotrophin-releasing hormone stimulation test3CASR CL E G H846417Aloi Tomasini Isaia syndromeORPHA123301514601199
HP:0000820HP:0009798Euthyroid goiter3CASR CL E G H846417Aloi Tomasini Isaia syndromeORPHA123301514601199
HP:0000820HP:0011786Thyrotoxicosis with toxic single thyroid nodule3CASR CL E G H846417Aloi Tomasini Isaia syndromeORPHA123301514601199
HP:0000820HP:0000851Congenital hypothyroidism3CASR CL E G H846417Aloi Tomasini Isaia syndromeORPHA123301514601199
HP:0000820HP:0011790Activating thyroid-stimulating hormone receptor defect3CASR CL E G H846417Aloi Tomasini Isaia syndromeORPHA123301514601199
HP:0000820HP:0008191Thyroid agenesis3CASR CL E G H846417Aloi Tomasini Isaia syndromeORPHA123301514601199
HP:0000820HP:0032209Abnormal circulating free T3 level3CASR CL E G H846417Aloi Tomasini Isaia syndromeORPHA123301514601199
HP:0000820HP:0033081Absent TSH response to thyrotrophin-releasing hormone stimulation test3CASR CL E G H846417Aloi Tomasini Isaia syndromeORPHA123301514601199
HP:0000820HP:0008251Congenital goiter3CASR CL E G H846417Aloi Tomasini Isaia syndromeORPHA123301514601199
HP:0000820HP:0011782Thyroid crisis3CASR CL E G H846417Aloi Tomasini Isaia syndromeORPHA123301514601199
HP:0000820HP:0011785Thyrotoxicosis with toxic multinodular goiter3CASR CL E G H846417Aloi Tomasini Isaia syndromeORPHA123301514601199
HP:0000820HP:0008223Compensated hypothyroidism3CASR CL E G H846417Aloi Tomasini Isaia syndromeORPHA123301514601199
HP:0000820HP:0005994Nodular goiter3CASR CL E G H846417Aloi Tomasini Isaia syndromeORPHA123301514601199
HP:0000820HP:0000854Thyroid adenoma3CASR CL E G H846417Aloi Tomasini Isaia syndromeORPHA123301514601199
HP:0000820HP:0008225Thyroid follicular hyperplasia3CASR CL E G H846417Aloi Tomasini Isaia syndromeORPHA123301514601199
HP:0000820HP:0033076Abnormal circulating free T4 level3CASR CL E G H846417Aloi Tomasini Isaia syndromeORPHA123301514601199
HP:0000820HP:0000872Hashimoto thyroiditis3IL12A CL E G H3592186ORPHA1345969161560
HP:0000820HP:0000832Primary hypothyroidism3IL12A CL E G H3592186ORPHA1345969161560
HP:0000820HP:0002890Thyroid carcinoma3IL12A CL E G H3592186ORPHA1345969161560
HP:0000820HP:0031219Reduced radioactive iodine uptake3IL12A CL E G H3592186ORPHA1345969161560
HP:0000820HP:0005990Thyroid hypoplasia3IL12A CL E G H3592186ORPHA1345969161560
HP:0000820HP:0011791Inactivating thyroid-stimulating hormone receptor defect3IL12A CL E G H3592186ORPHA1345969161560
HP:0000820HP:0100028Ectopic thyroid3IL12A CL E G H3592186ORPHA1345969161560
HP:0000820HP:0031505Abnormal circulating T4 level3IL12A CL E G H3592186ORPHA1345969161560
HP:0000820HP:0011784Thyrotoxicosis with diffuse goiter3IL12A CL E G H3592186ORPHA1345969161560
HP:0000820HP:0011781Thyroid C cell hyperplasia3IL12A CL E G H3592186ORPHA1345969161560
HP:0000820HP:0000851Congenital hypothyroidism3IL12A CL E G H3592186ORPHA1345969161560
HP:0000820HP:0031220Increased radioactive iodine uptake3IL12A CL E G H3592186ORPHA1345969161560
HP:0000820HP:0011780Thyroid hemiagenesis3IL12A CL E G H3592186ORPHA1345969161560
HP:0000820HP:0011790Activating thyroid-stimulating hormone receptor defect3IL12A CL E G H3592186ORPHA1345969161560
HP:0000820HP:0033082Reduced TSH response to thyrotrophin-releasing hormone stimulation test3IL12A CL E G H3592186ORPHA1345969161560
HP:0000820HP:0009798Euthyroid goiter3IL12A CL E G H3592186ORPHA1345969161560
HP:0000820HP:0011783Thyrotoxicosis from ectopic thyroid tissue3IL12A CL E G H3592186ORPHA1345969161560
HP:0000820HP:0012558Abnormal T3/T4 ratio3IL12A CL E G H3592186ORPHA1345969161560
HP:0000820HP:0011786Thyrotoxicosis with toxic single thyroid nodule3IL12A CL E G H3592186ORPHA1345969161560
HP:0000820HP:0008223Compensated hypothyroidism3IL12A CL E G H3592186ORPHA1345969161560
HP:0000820HP:0008191Thyroid agenesis3IL12A CL E G H3592186ORPHA1345969161560
HP:0000820HP:0032209Abnormal circulating free T3 level3IL12A CL E G H3592186ORPHA1345969161560
HP:0000820HP:0033081Absent TSH response to thyrotrophin-releasing hormone stimulation test3IL12A CL E G H3592186ORPHA1345969161560
HP:0000820HP:0008251Congenital goiter3IL12A CL E G H3592186ORPHA1345969161560
HP:0000820HP:0011782Thyroid crisis3IL12A CL E G H3592186ORPHA1345969161560
HP:0000820HP:0011785Thyrotoxicosis with toxic multinodular goiter3IL12A CL E G H3592186ORPHA1345969161560
HP:0000820HP:0011787Central hypothyroidism3IL12A CL E G H3592186ORPHA1345969161560
HP:0000820HP:0033076Abnormal circulating free T4 level3IL12A CL E G H3592186ORPHA1345969161560
HP:0000820HP:0005994Nodular goiter3IL12A CL E G H3592186ORPHA1345969161560
HP:0000820HP:0000854Thyroid adenoma3IL12A CL E G H3592186ORPHA1345969161560
HP:0000820HP:0008225Thyroid follicular hyperplasia3IL12A CL E G H3592186ORPHA1345969161560
HP:0000820HP:0031505Abnormal circulating T4 level3IL12RB1 CL E G H3594186ORPHA14655971601604
HP:0000820HP:0011784Thyrotoxicosis with diffuse goiter3IL12RB1 CL E G H3594186ORPHA14655971601604
HP:0000820HP:0011781Thyroid C cell hyperplasia3IL12RB1 CL E G H3594186ORPHA14655971601604
HP:0000820HP:0000872Hashimoto thyroiditis3IL12RB1 CL E G H3594186ORPHA14655971601604
HP:0000820HP:0000832Primary hypothyroidism3IL12RB1 CL E G H3594186ORPHA14655971601604
HP:0000820HP:0002890Thyroid carcinoma3IL12RB1 CL E G H3594186ORPHA14655971601604
HP:0000820HP:0031219Reduced radioactive iodine uptake3IL12RB1 CL E G H3594186ORPHA14655971601604
HP:0000820HP:0005990Thyroid hypoplasia3IL12RB1 CL E G H3594186ORPHA14655971601604
HP:0000820HP:0011791Inactivating thyroid-stimulating hormone receptor defect3IL12RB1 CL E G H3594186ORPHA14655971601604
HP:0000820HP:0100028Ectopic thyroid3IL12RB1 CL E G H3594186ORPHA14655971601604
HP:0000820HP:0012558Abnormal T3/T4 ratio3IL12RB1 CL E G H3594186ORPHA14655971601604
HP:0000820HP:0011786Thyrotoxicosis with toxic single thyroid nodule3IL12RB1 CL E G H3594186ORPHA14655971601604
HP:0000820HP:0000851Congenital hypothyroidism3IL12RB1 CL E G H3594186ORPHA14655971601604
HP:0000820HP:0031220Increased radioactive iodine uptake3IL12RB1 CL E G H3594186ORPHA14655971601604
HP:0000820HP:0011780Thyroid hemiagenesis3IL12RB1 CL E G H3594186ORPHA14655971601604
HP:0000820HP:0011790Activating thyroid-stimulating hormone receptor defect3IL12RB1 CL E G H3594186ORPHA14655971601604
HP:0000820HP:0033082Reduced TSH response to thyrotrophin-releasing hormone stimulation test3IL12RB1 CL E G H3594186ORPHA14655971601604
HP:0000820HP:0009798Euthyroid goiter3IL12RB1 CL E G H3594186ORPHA14655971601604
HP:0000820HP:0011783Thyrotoxicosis from ectopic thyroid tissue3IL12RB1 CL E G H3594186ORPHA14655971601604
HP:0000820HP:0011785Thyrotoxicosis with toxic multinodular goiter3IL12RB1 CL E G H3594186ORPHA14655971601604
HP:0000820HP:0008223Compensated hypothyroidism3IL12RB1 CL E G H3594186ORPHA14655971601604
HP:0000820HP:0008191Thyroid agenesis3IL12RB1 CL E G H3594186ORPHA14655971601604
HP:0000820HP:0032209Abnormal circulating free T3 level3IL12RB1 CL E G H3594186ORPHA14655971601604
HP:0000820HP:0033081Absent TSH response to thyrotrophin-releasing hormone stimulation test3IL12RB1 CL E G H3594186ORPHA14655971601604
HP:0000820HP:0008251Congenital goiter3IL12RB1 CL E G H3594186ORPHA14655971601604
HP:0000820HP:0011782Thyroid crisis3IL12RB1 CL E G H3594186ORPHA14655971601604
HP:0000820HP:0000854Thyroid adenoma3IL12RB1 CL E G H3594186ORPHA14655971601604
HP:0000820HP:0008225Thyroid follicular hyperplasia3IL12RB1 CL E G H3594186ORPHA14655971601604
HP:0000820HP:0011787Central hypothyroidism3IL12RB1 CL E G H3594186ORPHA14655971601604
HP:0000820HP:0033076Abnormal circulating free T4 level3IL12RB1 CL E G H3594186ORPHA14655971601604
HP:0000820HP:0005994Nodular goiter3IL12RB1 CL E G H3594186ORPHA14655971601604
HP:0000820HP:0033076Abnormal circulating free T4 level3INSR CL E G H3643769ORPHA16226091147670
HP:0000820HP:0005994Nodular goiter3INSR CL E G H3643769ORPHA16226091147670
HP:0000820HP:0000854Thyroid adenoma3INSR CL E G H3643769ORPHA16226091147670
HP:0000820HP:0008225Thyroid follicular hyperplasia3INSR CL E G H3643769ORPHA16226091147670
HP:0000820HP:0011787Central hypothyroidism3INSR CL E G H3643769ORPHA16226091147670
HP:0000820HP:0005990Thyroid hypoplasia3INSR CL E G H3643769ORPHA16226091147670
HP:0000820HP:0011791Inactivating thyroid-stimulating hormone receptor defect3INSR CL E G H3643769ORPHA16226091147670
HP:0000820HP:0100028Ectopic thyroid3INSR CL E G H3643769ORPHA16226091147670
HP:0000820HP:0031505Abnormal circulating T4 level3INSR CL E G H3643769ORPHA16226091147670
HP:0000820HP:0011784Thyrotoxicosis with diffuse goiter3INSR CL E G H3643769ORPHA16226091147670
HP:0000820HP:0011781Thyroid C cell hyperplasia3INSR CL E G H3643769ORPHA16226091147670
HP:0000820HP:0000872Hashimoto thyroiditis3INSR CL E G H3643769ORPHA16226091147670
HP:0000820HP:0000832Primary hypothyroidism3INSR CL E G H3643769ORPHA16226091147670
HP:0000820HP:0002890Thyroid carcinoma3INSR CL E G H3643769ORPHA16226091147670
HP:0000820HP:0031219Reduced radioactive iodine uptake3INSR CL E G H3643769ORPHA16226091147670
HP:0000820HP:0033082Reduced TSH response to thyrotrophin-releasing hormone stimulation test3INSR CL E G H3643769ORPHA16226091147670
HP:0000820HP:0009798Euthyroid goiter3INSR CL E G H3643769ORPHA16226091147670
HP:0000820HP:0011783Thyrotoxicosis from ectopic thyroid tissue3INSR CL E G H3643769ORPHA16226091147670
HP:0000820HP:0012558Abnormal T3/T4 ratio3INSR CL E G H3643769ORPHA16226091147670
HP:0000820HP:0011786Thyrotoxicosis with toxic single thyroid nodule3INSR CL E G H3643769ORPHA16226091147670
HP:0000820HP:0000851Congenital hypothyroidism3INSR CL E G H3643769ORPHA16226091147670
HP:0000820HP:0031220Increased radioactive iodine uptake3INSR CL E G H3643769ORPHA16226091147670
HP:0000820HP:0011780Thyroid hemiagenesis3INSR CL E G H3643769ORPHA16226091147670
HP:0000820HP:0011790Activating thyroid-stimulating hormone receptor defect3INSR CL E G H3643769ORPHA16226091147670
HP:0000820HP:0032209Abnormal circulating free T3 level3INSR CL E G H3643769ORPHA16226091147670
HP:0000820HP:0033081Absent TSH response to thyrotrophin-releasing hormone stimulation test3INSR CL E G H3643769ORPHA16226091147670
HP:0000820HP:0008251Congenital goiter3INSR CL E G H3643769ORPHA16226091147670
HP:0000820HP:0011782Thyroid crisis3INSR CL E G H3643769ORPHA16226091147670
HP:0000820HP:0011785Thyrotoxicosis with toxic multinodular goiter3INSR CL E G H3643769ORPHA16226091147670
HP:0000820HP:0008223Compensated hypothyroidism3INSR CL E G H3643769ORPHA16226091147670
HP:0000820HP:0008191Thyroid agenesis3INSR CL E G H3643769ORPHA16226091147670
HP:0000820HP:0011791Inactivating thyroid-stimulating hormone receptor defect3IRF5 CL E G H3663186ORPHA1656120607218
HP:0000820HP:0100028Ectopic thyroid3IRF5 CL E G H3663186ORPHA1656120607218
HP:0000820HP:0031505Abnormal circulating T4 level3IRF5 CL E G H3663186ORPHA1656120607218
HP:0000820HP:0011784Thyrotoxicosis with diffuse goiter3IRF5 CL E G H3663186ORPHA1656120607218
HP:0000820HP:0011781Thyroid C cell hyperplasia3IRF5 CL E G H3663186ORPHA1656120607218
HP:0000820HP:0000872Hashimoto thyroiditis3IRF5 CL E G H3663186ORPHA1656120607218
HP:0000820HP:0000832Primary hypothyroidism3IRF5 CL E G H3663186ORPHA1656120607218
HP:0000820HP:0002890Thyroid carcinoma3IRF5 CL E G H3663186ORPHA1656120607218
HP:0000820HP:0031219Reduced radioactive iodine uptake3IRF5 CL E G H3663186ORPHA1656120607218
HP:0000820HP:0005990Thyroid hypoplasia3IRF5 CL E G H3663186ORPHA1656120607218
HP:0000820HP:0011790Activating thyroid-stimulating hormone receptor defect3IRF5 CL E G H3663186ORPHA1656120607218
HP:0000820HP:0033082Reduced TSH response to thyrotrophin-releasing hormone stimulation test3IRF5 CL E G H3663186ORPHA1656120607218
HP:0000820HP:0009798Euthyroid goiter3IRF5 CL E G H3663186ORPHA1656120607218
HP:0000820HP:0011783Thyrotoxicosis from ectopic thyroid tissue3IRF5 CL E G H3663186ORPHA1656120607218
HP:0000820HP:0012558Abnormal T3/T4 ratio3IRF5 CL E G H3663186ORPHA1656120607218
HP:0000820HP:0011786Thyrotoxicosis with toxic single thyroid nodule3IRF5 CL E G H3663186ORPHA1656120607218
HP:0000820HP:0000851Congenital hypothyroidism3IRF5 CL E G H3663186ORPHA1656120607218
HP:0000820HP:0031220Increased radioactive iodine uptake3IRF5 CL E G H3663186ORPHA1656120607218
HP:0000820HP:0011780Thyroid hemiagenesis3IRF5 CL E G H3663186ORPHA1656120607218
HP:0000820HP:0032209Abnormal circulating free T3 level3IRF5 CL E G H3663186ORPHA1656120607218
HP:0000820HP:0033081Absent TSH response to thyrotrophin-releasing hormone stimulation test3IRF5 CL E G H3663186ORPHA1656120607218
HP:0000820HP:0008251Congenital goiter3IRF5 CL E G H3663186ORPHA1656120607218
HP:0000820HP:0011782Thyroid crisis3IRF5 CL E G H3663186ORPHA1656120607218
HP:0000820HP:0011785Thyrotoxicosis with toxic multinodular goiter3IRF5 CL E G H3663186ORPHA1656120607218
HP:0000820HP:0008223Compensated hypothyroidism3IRF5 CL E G H3663186ORPHA1656120607218
HP:0000820HP:0008191Thyroid agenesis3IRF5 CL E G H3663186ORPHA1656120607218
HP:0000820HP:0033076Abnormal circulating free T4 level3IRF5 CL E G H3663186ORPHA1656120607218
HP:0000820HP:0005994Nodular goiter3IRF5 CL E G H3663186ORPHA1656120607218
HP:0000820HP:0000854Thyroid adenoma3IRF5 CL E G H3663186ORPHA1656120607218
HP:0000820HP:0008225Thyroid follicular hyperplasia3IRF5 CL E G H3663186ORPHA1656120607218
HP:0000820HP:0011787Central hypothyroidism3IRF5 CL E G H3663186ORPHA1656120607218
HP:0000820HP:0000872Hashimoto thyroiditis3MEN1 CL E G H4221131100Multiple endocrine neoplasia, type 1131100C0025267OMIM121737010613733
HP:0000820HP:0000832Primary hypothyroidism3MEN1 CL E G H4221131100Multiple endocrine neoplasia, type 1131100C0025267OMIM121737010613733
HP:0000820HP:0002890Thyroid carcinoma3MEN1 CL E G H4221131100Multiple endocrine neoplasia, type 1131100C0025267OMIM121737010613733
HP:0000820HP:0031219Reduced radioactive iodine uptake3MEN1 CL E G H4221131100Multiple endocrine neoplasia, type 1131100C0025267OMIM121737010613733
HP:0000820HP:0005990Thyroid hypoplasia3MEN1 CL E G H4221131100Multiple endocrine neoplasia, type 1131100C0025267OMIM121737010613733
HP:0000820HP:0011791Inactivating thyroid-stimulating hormone receptor defect3MEN1 CL E G H4221131100Multiple endocrine neoplasia, type 1131100C0025267OMIM121737010613733
HP:0000820HP:0100028Ectopic thyroid3MEN1 CL E G H4221131100Multiple endocrine neoplasia, type 1131100C0025267OMIM121737010613733
HP:0000820HP:0031505Abnormal circulating T4 level3MEN1 CL E G H4221131100Multiple endocrine neoplasia, type 1131100C0025267OMIM121737010613733
HP:0000820HP:0011784Thyrotoxicosis with diffuse goiter3MEN1 CL E G H4221131100Multiple endocrine neoplasia, type 1131100C0025267OMIM121737010613733
HP:0000820HP:0011781Thyroid C cell hyperplasia3MEN1 CL E G H4221131100Multiple endocrine neoplasia, type 1131100C0025267OMIM121737010613733
HP:0000820HP:0012558Abnormal T3/T4 ratio3MEN1 CL E G H4221131100Multiple endocrine neoplasia, type 1131100C0025267OMIM121737010613733
HP:0000820HP:0011786Thyrotoxicosis with toxic single thyroid nodule3MEN1 CL E G H4221131100Multiple endocrine neoplasia, type 1131100C0025267OMIM121737010613733
HP:0000820HP:0000851Congenital hypothyroidism3MEN1 CL E G H4221131100Multiple endocrine neoplasia, type 1131100C0025267OMIM121737010613733
HP:0000820HP:0031220Increased radioactive iodine uptake3MEN1 CL E G H4221131100Multiple endocrine neoplasia, type 1131100C0025267OMIM121737010613733
HP:0000820HP:0011780Thyroid hemiagenesis3MEN1 CL E G H4221131100Multiple endocrine neoplasia, type 1131100C0025267OMIM121737010613733
HP:0000820HP:0011790Activating thyroid-stimulating hormone receptor defect3MEN1 CL E G H4221131100Multiple endocrine neoplasia, type 1131100C0025267OMIM121737010613733
HP:0000820HP:0033082Reduced TSH response to thyrotrophin-releasing hormone stimulation test3MEN1 CL E G H4221131100Multiple endocrine neoplasia, type 1131100C0025267OMIM121737010613733
HP:0000820HP:0009798Euthyroid goiter3MEN1 CL E G H4221131100Multiple endocrine neoplasia, type 1131100C0025267OMIM121737010613733
HP:0000820HP:0011783Thyrotoxicosis from ectopic thyroid tissue3MEN1 CL E G H4221131100Multiple endocrine neoplasia, type 1131100C0025267OMIM121737010613733
HP:0000820HP:0008223Compensated hypothyroidism3MEN1 CL E G H4221131100Multiple endocrine neoplasia, type 1131100C0025267OMIM121737010613733
HP:0000820HP:0008191Thyroid agenesis3MEN1 CL E G H4221131100Multiple endocrine neoplasia, type 1131100C0025267OMIM121737010613733
HP:0000820HP:0032209Abnormal circulating free T3 level3MEN1 CL E G H4221131100Multiple endocrine neoplasia, type 1131100C0025267OMIM121737010613733
HP:0000820HP:0033081Absent TSH response to thyrotrophin-releasing hormone stimulation test3MEN1 CL E G H4221131100Multiple endocrine neoplasia, type 1131100C0025267OMIM121737010613733
HP:0000820HP:0008251Congenital goiter3MEN1 CL E G H4221131100Multiple endocrine neoplasia, type 1131100C0025267OMIM121737010613733
HP:0000820HP:0011782Thyroid crisis3MEN1 CL E G H4221131100Multiple endocrine neoplasia, type 1131100C0025267OMIM121737010613733
HP:0000820HP:0011785Thyrotoxicosis with toxic multinodular goiter3MEN1 CL E G H4221131100Multiple endocrine neoplasia, type 1131100C0025267OMIM121737010613733
HP:0000820HP:0008225Thyroid follicular hyperplasia3MEN1 CL E G H4221131100Multiple endocrine neoplasia, type 1131100C0025267OMIM121737010613733
HP:0000820HP:0011787Central hypothyroidism3MEN1 CL E G H4221131100Multiple endocrine neoplasia, type 1131100C0025267OMIM121737010613733
HP:0000820HP:0033076Abnormal circulating free T4 level3MEN1 CL E G H4221131100Multiple endocrine neoplasia, type 1131100C0025267OMIM121737010613733
HP:0000820HP:0005994Nodular goiter3MEN1 CL E G H4221131100Multiple endocrine neoplasia, type 1131100C0025267OMIM121737010613733
HP:0000820HP:0000854Thyroid adenoma3MEN1 CL E G H4221131100Multiple endocrine neoplasia, type 1131100C0025267OMIM121737010613733
HP:0000820HP:0000832Primary hypothyroidism3MMEL1 CL E G H79258186ORPHA118114668618104
HP:0000820HP:0002890Thyroid carcinoma3MMEL1 CL E G H79258186ORPHA118114668618104
HP:0000820HP:0031219Reduced radioactive iodine uptake3MMEL1 CL E G H79258186ORPHA118114668618104
HP:0000820HP:0005990Thyroid hypoplasia3MMEL1 CL E G H79258186ORPHA118114668618104
HP:0000820HP:0011791Inactivating thyroid-stimulating hormone receptor defect3MMEL1 CL E G H79258186ORPHA118114668618104
HP:0000820HP:0100028Ectopic thyroid3MMEL1 CL E G H79258186ORPHA118114668618104
HP:0000820HP:0031505Abnormal circulating T4 level3MMEL1 CL E G H79258186ORPHA118114668618104
HP:0000820HP:0011784Thyrotoxicosis with diffuse goiter3MMEL1 CL E G H79258186ORPHA118114668618104
HP:0000820HP:0011781Thyroid C cell hyperplasia3MMEL1 CL E G H79258186ORPHA118114668618104
HP:0000820HP:0000872Hashimoto thyroiditis3MMEL1 CL E G H79258186ORPHA118114668618104
HP:0000820HP:0031220Increased radioactive iodine uptake3MMEL1 CL E G H79258186ORPHA118114668618104
HP:0000820HP:0011780Thyroid hemiagenesis3MMEL1 CL E G H79258186ORPHA118114668618104
HP:0000820HP:0011790Activating thyroid-stimulating hormone receptor defect3MMEL1 CL E G H79258186ORPHA118114668618104
HP:0000820HP:0033082Reduced TSH response to thyrotrophin-releasing hormone stimulation test3MMEL1 CL E G H79258186ORPHA118114668618104
HP:0000820HP:0009798Euthyroid goiter3MMEL1 CL E G H79258186ORPHA118114668618104
HP:0000820HP:0011783Thyrotoxicosis from ectopic thyroid tissue3MMEL1 CL E G H79258186ORPHA118114668618104
HP:0000820HP:0012558Abnormal T3/T4 ratio3MMEL1 CL E G H79258186ORPHA118114668618104
HP:0000820HP:0011786Thyrotoxicosis with toxic single thyroid nodule3MMEL1 CL E G H79258186ORPHA118114668618104
HP:0000820HP:0000851Congenital hypothyroidism3MMEL1 CL E G H79258186ORPHA118114668618104
HP:0000820HP:0008191Thyroid agenesis3MMEL1 CL E G H79258186ORPHA118114668618104
HP:0000820HP:0032209Abnormal circulating free T3 level3MMEL1 CL E G H79258186ORPHA118114668618104
HP:0000820HP:0033081Absent TSH response to thyrotrophin-releasing hormone stimulation test3MMEL1 CL E G H79258186ORPHA118114668618104
HP:0000820HP:0008251Congenital goiter3MMEL1 CL E G H79258186ORPHA118114668618104
HP:0000820HP:0011782Thyroid crisis3MMEL1 CL E G H79258186ORPHA118114668618104
HP:0000820HP:0011785Thyrotoxicosis with toxic multinodular goiter3MMEL1 CL E G H79258186ORPHA118114668618104
HP:0000820HP:0008223Compensated hypothyroidism3MMEL1 CL E G H79258186ORPHA118114668618104
HP:0000820HP:0033076Abnormal circulating free T4 level3MMEL1 CL E G H79258186ORPHA118114668618104
HP:0000820HP:0005994Nodular goiter3MMEL1 CL E G H79258186ORPHA118114668618104
HP:0000820HP:0000854Thyroid adenoma3MMEL1 CL E G H79258186ORPHA118114668618104
HP:0000820HP:0008225Thyroid follicular hyperplasia3MMEL1 CL E G H79258186ORPHA118114668618104
HP:0000820HP:0011787Central hypothyroidism3MMEL1 CL E G H79258186ORPHA118114668618104
HP:0000820HP:0011781Thyroid C cell hyperplasia3POU2AF1 CL E G H5450186ORPHA1399211601206
HP:0000820HP:0000872Hashimoto thyroiditis3POU2AF1 CL E G H5450186ORPHA1399211601206
HP:0000820HP:0000832Primary hypothyroidism3POU2AF1 CL E G H5450186ORPHA1399211601206
HP:0000820HP:0002890Thyroid carcinoma3POU2AF1 CL E G H5450186ORPHA1399211601206
HP:0000820HP:0031219Reduced radioactive iodine uptake3POU2AF1 CL E G H5450186ORPHA1399211601206
HP:0000820HP:0005990Thyroid hypoplasia3POU2AF1 CL E G H5450186ORPHA1399211601206
HP:0000820HP:0011791Inactivating thyroid-stimulating hormone receptor defect3POU2AF1 CL E G H5450186ORPHA1399211601206
HP:0000820HP:0100028Ectopic thyroid3POU2AF1 CL E G H5450186ORPHA1399211601206
HP:0000820HP:0031505Abnormal circulating T4 level3POU2AF1 CL E G H5450186ORPHA1399211601206
HP:0000820HP:0011784Thyrotoxicosis with diffuse goiter3POU2AF1 CL E G H5450186ORPHA1399211601206
HP:0000820HP:0012558Abnormal T3/T4 ratio3POU2AF1 CL E G H5450186ORPHA1399211601206
HP:0000820HP:0011786Thyrotoxicosis with toxic single thyroid nodule3POU2AF1 CL E G H5450186ORPHA1399211601206
HP:0000820HP:0000851Congenital hypothyroidism3POU2AF1 CL E G H5450186ORPHA1399211601206
HP:0000820HP:0031220Increased radioactive iodine uptake3POU2AF1 CL E G H5450186ORPHA1399211601206
HP:0000820HP:0011780Thyroid hemiagenesis3POU2AF1 CL E G H5450186ORPHA1399211601206
HP:0000820HP:0011790Activating thyroid-stimulating hormone receptor defect3POU2AF1 CL E G H5450186ORPHA1399211601206
HP:0000820HP:0033082Reduced TSH response to thyrotrophin-releasing hormone stimulation test3POU2AF1 CL E G H5450186ORPHA1399211601206
HP:0000820HP:0009798Euthyroid goiter3POU2AF1 CL E G H5450186ORPHA1399211601206
HP:0000820HP:0011783Thyrotoxicosis from ectopic thyroid tissue3POU2AF1 CL E G H5450186ORPHA1399211601206
HP:0000820HP:0011785Thyrotoxicosis with toxic multinodular goiter3POU2AF1 CL E G H5450186ORPHA1399211601206
HP:0000820HP:0008223Compensated hypothyroidism3POU2AF1 CL E G H5450186ORPHA1399211601206
HP:0000820HP:0008191Thyroid agenesis3POU2AF1 CL E G H5450186ORPHA1399211601206
HP:0000820HP:0032209Abnormal circulating free T3 level3POU2AF1 CL E G H5450186ORPHA1399211601206
HP:0000820HP:0033081Absent TSH response to thyrotrophin-releasing hormone stimulation test3POU2AF1 CL E G H5450186ORPHA1399211601206
HP:0000820HP:0008251Congenital goiter3POU2AF1 CL E G H5450186ORPHA1399211601206
HP:0000820HP:0011782Thyroid crisis3POU2AF1 CL E G H5450186ORPHA1399211601206
HP:0000820HP:0000854Thyroid adenoma3POU2AF1 CL E G H5450186ORPHA1399211601206
HP:0000820HP:0008225Thyroid follicular hyperplasia3POU2AF1 CL E G H5450186ORPHA1399211601206
HP:0000820HP:0011787Central hypothyroidism3POU2AF1 CL E G H5450186ORPHA1399211601206
HP:0000820HP:0033076Abnormal circulating free T4 level3POU2AF1 CL E G H5450186ORPHA1399211601206
HP:0000820HP:0005994Nodular goiter3POU2AF1 CL E G H5450186ORPHA1399211601206
HP:0000820HP:0100028Ectopic thyroid3RAI1 CL E G H10743182290Smith-Magenis syndrome182290C0795864OMIM116089834607642
HP:0000820HP:0031505Abnormal circulating T4 level3RAI1 CL E G H10743182290Smith-Magenis syndrome182290C0795864OMIM116089834607642
HP:0000820HP:0011784Thyrotoxicosis with diffuse goiter3RAI1 CL E G H10743182290Smith-Magenis syndrome182290C0795864OMIM116089834607642
HP:0000820HP:0011781Thyroid C cell hyperplasia3RAI1 CL E G H10743182290Smith-Magenis syndrome182290C0795864OMIM116089834607642
HP:0000820HP:0000872Hashimoto thyroiditis3RAI1 CL E G H10743182290Smith-Magenis syndrome182290C0795864OMIM116089834607642
HP:0000820HP:0000832Primary hypothyroidism3RAI1 CL E G H10743182290Smith-Magenis syndrome182290C0795864OMIM116089834607642
HP:0000820HP:0002890Thyroid carcinoma3RAI1 CL E G H10743182290Smith-Magenis syndrome182290C0795864OMIM116089834607642
HP:0000820HP:0031219Reduced radioactive iodine uptake3RAI1 CL E G H10743182290Smith-Magenis syndrome182290C0795864OMIM116089834607642
HP:0000820HP:0005990Thyroid hypoplasia3RAI1 CL E G H10743182290Smith-Magenis syndrome182290C0795864OMIM116089834607642
HP:0000820HP:0011791Inactivating thyroid-stimulating hormone receptor defect3RAI1 CL E G H10743182290Smith-Magenis syndrome182290C0795864OMIM116089834607642
HP:0000820HP:0011783Thyrotoxicosis from ectopic thyroid tissue3RAI1 CL E G H10743182290Smith-Magenis syndrome182290C0795864OMIM116089834607642
HP:0000820HP:0012558Abnormal T3/T4 ratio3RAI1 CL E G H10743182290Smith-Magenis syndrome182290C0795864OMIM116089834607642
HP:0000820HP:0011786Thyrotoxicosis with toxic single thyroid nodule3RAI1 CL E G H10743182290Smith-Magenis syndrome182290C0795864OMIM116089834607642
HP:0000820HP:0000851Congenital hypothyroidism3RAI1 CL E G H10743182290Smith-Magenis syndrome182290C0795864OMIM116089834607642
HP:0000820HP:0031220Increased radioactive iodine uptake3RAI1 CL E G H10743182290Smith-Magenis syndrome182290C0795864OMIM116089834607642
HP:0000820HP:0011780Thyroid hemiagenesis3RAI1 CL E G H10743182290Smith-Magenis syndrome182290C0795864OMIM116089834607642
HP:0000820HP:0011790Activating thyroid-stimulating hormone receptor defect3RAI1 CL E G H10743182290Smith-Magenis syndrome182290C0795864OMIM116089834607642
HP:0000820HP:0033082Reduced TSH response to thyrotrophin-releasing hormone stimulation test3RAI1 CL E G H10743182290Smith-Magenis syndrome182290C0795864OMIM116089834607642
HP:0000820HP:0009798Euthyroid goiter3RAI1 CL E G H10743182290Smith-Magenis syndrome182290C0795864OMIM116089834607642
HP:0000820HP:0011782Thyroid crisis3RAI1 CL E G H10743182290Smith-Magenis syndrome182290C0795864OMIM116089834607642
HP:0000820HP:0011785Thyrotoxicosis with toxic multinodular goiter3RAI1 CL E G H10743182290Smith-Magenis syndrome182290C0795864OMIM116089834607642
HP:0000820HP:0008223Compensated hypothyroidism3RAI1 CL E G H10743182290Smith-Magenis syndrome182290C0795864OMIM116089834607642
HP:0000820HP:0008191Thyroid agenesis3RAI1 CL E G H10743182290Smith-Magenis syndrome182290C0795864OMIM116089834607642
HP:0000820HP:0032209Abnormal circulating free T3 level3RAI1 CL E G H10743182290Smith-Magenis syndrome182290C0795864OMIM116089834607642
HP:0000820HP:0033081Absent TSH response to thyrotrophin-releasing hormone stimulation test3RAI1 CL E G H10743182290Smith-Magenis syndrome182290C0795864OMIM116089834607642
HP:0000820HP:0008251Congenital goiter3RAI1 CL E G H10743182290Smith-Magenis syndrome182290C0795864OMIM116089834607642
HP:0000820HP:0005994Nodular goiter3RAI1 CL E G H10743182290Smith-Magenis syndrome182290C0795864OMIM116089834607642
HP:0000820HP:0000854Thyroid adenoma3RAI1 CL E G H10743182290Smith-Magenis syndrome182290C0795864OMIM116089834607642
HP:0000820HP:0008225Thyroid follicular hyperplasia3RAI1 CL E G H10743182290Smith-Magenis syndrome182290C0795864OMIM116089834607642
HP:0000820HP:0011787Central hypothyroidism3RAI1 CL E G H10743182290Smith-Magenis syndrome182290C0795864OMIM116089834607642
HP:0000820HP:0033076Abnormal circulating free T4 level3RAI1 CL E G H10743182290Smith-Magenis syndrome182290C0795864OMIM116089834607642
HP:0000820HP:0100028Ectopic thyroid3SPIB CL E G H6689186ORPHA13411242606802
HP:0000820HP:0031505Abnormal circulating T4 level3SPIB CL E G H6689186ORPHA13411242606802
HP:0000820HP:0011784Thyrotoxicosis with diffuse goiter3SPIB CL E G H6689186ORPHA13411242606802
HP:0000820HP:0011781Thyroid C cell hyperplasia3SPIB CL E G H6689186ORPHA13411242606802
HP:0000820HP:0000872Hashimoto thyroiditis3SPIB CL E G H6689186ORPHA13411242606802
HP:0000820HP:0000832Primary hypothyroidism3SPIB CL E G H6689186ORPHA13411242606802
HP:0000820HP:0002890Thyroid carcinoma3SPIB CL E G H6689186ORPHA13411242606802
HP:0000820HP:0031219Reduced radioactive iodine uptake3SPIB CL E G H6689186ORPHA13411242606802
HP:0000820HP:0005990Thyroid hypoplasia3SPIB CL E G H6689186ORPHA13411242606802
HP:0000820HP:0011791Inactivating thyroid-stimulating hormone receptor defect3SPIB CL E G H6689186ORPHA13411242606802
HP:0000820HP:0009798Euthyroid goiter3SPIB CL E G H6689186ORPHA13411242606802
HP:0000820HP:0011783Thyrotoxicosis from ectopic thyroid tissue3SPIB CL E G H6689186ORPHA13411242606802
HP:0000820HP:0012558Abnormal T3/T4 ratio3SPIB CL E G H6689186ORPHA13411242606802
HP:0000820HP:0011786Thyrotoxicosis with toxic single thyroid nodule3SPIB CL E G H6689186ORPHA13411242606802
HP:0000820HP:0000851Congenital hypothyroidism3SPIB CL E G H6689186ORPHA13411242606802
HP:0000820HP:0031220Increased radioactive iodine uptake3SPIB CL E G H6689186ORPHA13411242606802
HP:0000820HP:0011780Thyroid hemiagenesis3SPIB CL E G H6689186ORPHA13411242606802
HP:0000820HP:0011790Activating thyroid-stimulating hormone receptor defect3SPIB CL E G H6689186ORPHA13411242606802
HP:0000820HP:0033082Reduced TSH response to thyrotrophin-releasing hormone stimulation test3SPIB CL E G H6689186ORPHA13411242606802
HP:0000820HP:0011782Thyroid crisis3SPIB CL E G H6689186ORPHA13411242606802
HP:0000820HP:0011785Thyrotoxicosis with toxic multinodular goiter3SPIB CL E G H6689186ORPHA13411242606802
HP:0000820HP:0008223Compensated hypothyroidism3SPIB CL E G H6689186ORPHA13411242606802
HP:0000820HP:0008191Thyroid agenesis3SPIB CL E G H6689186ORPHA13411242606802
HP:0000820HP:0032209Abnormal circulating free T3 level3SPIB CL E G H6689186ORPHA13411242606802
HP:0000820HP:0033081Absent TSH response to thyrotrophin-releasing hormone stimulation test3SPIB CL E G H6689186ORPHA13411242606802
HP:0000820HP:0008251Congenital goiter3SPIB CL E G H6689186ORPHA13411242606802
HP:0000820HP:0033076Abnormal circulating free T4 level3SPIB CL E G H6689186ORPHA13411242606802
HP:0000820HP:0005994Nodular goiter3SPIB CL E G H6689186ORPHA13411242606802
HP:0000820HP:0000854Thyroid adenoma3SPIB CL E G H6689186ORPHA13411242606802
HP:0000820HP:0008225Thyroid follicular hyperplasia3SPIB CL E G H6689186ORPHA13411242606802
HP:0000820HP:0011787Central hypothyroidism3SPIB CL E G H6689186ORPHA13411242606802
HP:0000820HP:0000854Thyroid adenoma3THRB CL E G H70683221Leisti Hollister Rimoin syndromeORPHA134811799190160
HP:0000820HP:0008225Thyroid follicular hyperplasia3THRB CL E G H70683221Leisti Hollister Rimoin syndromeORPHA134811799190160
HP:0000820HP:0011787Central hypothyroidism3THRB CL E G H70683221Leisti Hollister Rimoin syndromeORPHA134811799190160
HP:0000820HP:0033076Abnormal circulating free T4 level3THRB CL E G H70683221Leisti Hollister Rimoin syndromeORPHA134811799190160
HP:0000820HP:0005994Nodular goiter3THRB CL E G H70683221Leisti Hollister Rimoin syndromeORPHA134811799190160
HP:0000820HP:0011781Thyroid C cell hyperplasia3THRB CL E G H70683221Leisti Hollister Rimoin syndromeORPHA134811799190160
HP:0000820HP:0000872Hashimoto thyroiditis3THRB CL E G H70683221Leisti Hollister Rimoin syndromeORPHA134811799190160
HP:0000820HP:0000832Primary hypothyroidism3THRB CL E G H70683221Leisti Hollister Rimoin syndromeORPHA134811799190160
HP:0000820HP:0002890Thyroid carcinoma3THRB CL E G H70683221Leisti Hollister Rimoin syndromeORPHA134811799190160
HP:0000820HP:0031219Reduced radioactive iodine uptake3THRB CL E G H70683221Leisti Hollister Rimoin syndromeORPHA134811799190160
HP:0000820HP:0005990Thyroid hypoplasia3THRB CL E G H70683221Leisti Hollister Rimoin syndromeORPHA134811799190160
HP:0000820HP:0011791Inactivating thyroid-stimulating hormone receptor defect3THRB CL E G H70683221Leisti Hollister Rimoin syndromeORPHA134811799190160
HP:0000820HP:0100028Ectopic thyroid3THRB CL E G H70683221Leisti Hollister Rimoin syndromeORPHA134811799190160
HP:0000820HP:0031505Abnormal circulating T4 level3THRB CL E G H70683221Leisti Hollister Rimoin syndromeORPHA134811799190160
HP:0000820HP:0011784Thyrotoxicosis with diffuse goiter3THRB CL E G H70683221Leisti Hollister Rimoin syndromeORPHA134811799190160
HP:0000820HP:0012558Abnormal T3/T4 ratio3THRB CL E G H70683221Leisti Hollister Rimoin syndromeORPHA134811799190160
HP:0000820HP:0011786Thyrotoxicosis with toxic single thyroid nodule3THRB CL E G H70683221Leisti Hollister Rimoin syndromeORPHA134811799190160
HP:0000820HP:0000851Congenital hypothyroidism3THRB CL E G H70683221Leisti Hollister Rimoin syndromeORPHA134811799190160
HP:0000820HP:0031220Increased radioactive iodine uptake3THRB CL E G H70683221Leisti Hollister Rimoin syndromeORPHA134811799190160
HP:0000820HP:0011780Thyroid hemiagenesis3THRB CL E G H70683221Leisti Hollister Rimoin syndromeORPHA134811799190160
HP:0000820HP:0011790Activating thyroid-stimulating hormone receptor defect3THRB CL E G H70683221Leisti Hollister Rimoin syndromeORPHA134811799190160
HP:0000820HP:0033082Reduced TSH response to thyrotrophin-releasing hormone stimulation test3THRB CL E G H70683221Leisti Hollister Rimoin syndromeORPHA134811799190160
HP:0000820HP:0009798Euthyroid goiter3THRB CL E G H70683221Leisti Hollister Rimoin syndromeORPHA134811799190160
HP:0000820HP:0011783Thyrotoxicosis from ectopic thyroid tissue3THRB CL E G H70683221Leisti Hollister Rimoin syndromeORPHA134811799190160
HP:0000820HP:0011785Thyrotoxicosis with toxic multinodular goiter3THRB CL E G H70683221Leisti Hollister Rimoin syndromeORPHA134811799190160
HP:0000820HP:0008223Compensated hypothyroidism3THRB CL E G H70683221Leisti Hollister Rimoin syndromeORPHA134811799190160
HP:0000820HP:0008191Thyroid agenesis3THRB CL E G H70683221Leisti Hollister Rimoin syndromeORPHA134811799190160
HP:0000820HP:0032209Abnormal circulating free T3 level3THRB CL E G H70683221Leisti Hollister Rimoin syndromeORPHA134811799190160
HP:0000820HP:0033081Absent TSH response to thyrotrophin-releasing hormone stimulation test3THRB CL E G H70683221Leisti Hollister Rimoin syndromeORPHA134811799190160
HP:0000820HP:0008251Congenital goiter3THRB CL E G H70683221Leisti Hollister Rimoin syndromeORPHA134811799190160
HP:0000820HP:0011782Thyroid crisis3THRB CL E G H70683221Leisti Hollister Rimoin syndromeORPHA134811799190160
HP:0000820HP:0002890Thyroid carcinoma3TNFSF15 CL E G H9966186ORPHA15011931604052
HP:0000820HP:0031219Reduced radioactive iodine uptake3TNFSF15 CL E G H9966186ORPHA15011931604052
HP:0000820HP:0005990Thyroid hypoplasia3TNFSF15 CL E G H9966186ORPHA15011931604052
HP:0000820HP:0011791Inactivating thyroid-stimulating hormone receptor defect3TNFSF15 CL E G H9966186ORPHA15011931604052
HP:0000820HP:0100028Ectopic thyroid3TNFSF15 CL E G H9966186ORPHA15011931604052
HP:0000820HP:0031505Abnormal circulating T4 level3TNFSF15 CL E G H9966186ORPHA15011931604052
HP:0000820HP:0011784Thyrotoxicosis with diffuse goiter3TNFSF15 CL E G H9966186ORPHA15011931604052
HP:0000820HP:0011781Thyroid C cell hyperplasia3TNFSF15 CL E G H9966186ORPHA15011931604052
HP:0000820HP:0000872Hashimoto thyroiditis3TNFSF15 CL E G H9966186ORPHA15011931604052
HP:0000820HP:0000832Primary hypothyroidism3TNFSF15 CL E G H9966186ORPHA15011931604052
HP:0000820HP:0031220Increased radioactive iodine uptake3TNFSF15 CL E G H9966186ORPHA15011931604052
HP:0000820HP:0011780Thyroid hemiagenesis3TNFSF15 CL E G H9966186ORPHA15011931604052
HP:0000820HP:0011790Activating thyroid-stimulating hormone receptor defect3TNFSF15 CL E G H9966186ORPHA15011931604052
HP:0000820HP:0033082Reduced TSH response to thyrotrophin-releasing hormone stimulation test3TNFSF15 CL E G H9966186ORPHA15011931604052
HP:0000820HP:0009798Euthyroid goiter3TNFSF15 CL E G H9966186ORPHA15011931604052
HP:0000820HP:0011783Thyrotoxicosis from ectopic thyroid tissue3TNFSF15 CL E G H9966186ORPHA15011931604052
HP:0000820HP:0012558Abnormal T3/T4 ratio3TNFSF15 CL E G H9966186ORPHA15011931604052
HP:0000820HP:0011786Thyrotoxicosis with toxic single thyroid nodule3TNFSF15 CL E G H9966186ORPHA15011931604052
HP:0000820HP:0000851Congenital hypothyroidism3TNFSF15 CL E G H9966186ORPHA15011931604052
HP:0000820HP:0008191Thyroid agenesis3TNFSF15 CL E G H9966186ORPHA15011931604052
HP:0000820HP:0032209Abnormal circulating free T3 level3TNFSF15 CL E G H9966186ORPHA15011931604052
HP:0000820HP:0033081Absent TSH response to thyrotrophin-releasing hormone stimulation test3TNFSF15 CL E G H9966186ORPHA15011931604052
HP:0000820HP:0008251Congenital goiter3TNFSF15 CL E G H9966186ORPHA15011931604052
HP:0000820HP:0011782Thyroid crisis3TNFSF15 CL E G H9966186ORPHA15011931604052
HP:0000820HP:0011785Thyrotoxicosis with toxic multinodular goiter3TNFSF15 CL E G H9966186ORPHA15011931604052
HP:0000820HP:0008223Compensated hypothyroidism3TNFSF15 CL E G H9966186ORPHA15011931604052
HP:0000820HP:0033076Abnormal circulating free T4 level3TNFSF15 CL E G H9966186ORPHA15011931604052
HP:0000820HP:0005994Nodular goiter3TNFSF15 CL E G H9966186ORPHA15011931604052
HP:0000820HP:0000854Thyroid adenoma3TNFSF15 CL E G H9966186ORPHA15011931604052
HP:0000820HP:0008225Thyroid follicular hyperplasia3TNFSF15 CL E G H9966186ORPHA15011931604052
HP:0000820HP:0011787Central hypothyroidism3TNFSF15 CL E G H9966186ORPHA15011931604052
HP:0000820HP:0000872Hashimoto thyroiditis3TNPO3 CL E G H23534186ORPHA157517103610032
HP:0000820HP:0000832Primary hypothyroidism3TNPO3 CL E G H23534186ORPHA157517103610032
HP:0000820HP:0002890Thyroid carcinoma3TNPO3 CL E G H23534186ORPHA157517103610032
HP:0000820HP:0031219Reduced radioactive iodine uptake3TNPO3 CL E G H23534186ORPHA157517103610032
HP:0000820HP:0005990Thyroid hypoplasia3TNPO3 CL E G H23534186ORPHA157517103610032
HP:0000820HP:0011791Inactivating thyroid-stimulating hormone receptor defect3TNPO3 CL E G H23534186ORPHA157517103610032
HP:0000820HP:0100028Ectopic thyroid3TNPO3 CL E G H23534186ORPHA157517103610032
HP:0000820HP:0031505Abnormal circulating T4 level3TNPO3 CL E G H23534186ORPHA157517103610032
HP:0000820HP:0011784Thyrotoxicosis with diffuse goiter3TNPO3 CL E G H23534186ORPHA157517103610032
HP:0000820HP:0011781Thyroid C cell hyperplasia3TNPO3 CL E G H23534186ORPHA157517103610032
HP:0000820HP:0000851Congenital hypothyroidism3TNPO3 CL E G H23534186ORPHA157517103610032
HP:0000820HP:0031220Increased radioactive iodine uptake3TNPO3 CL E G H23534186ORPHA157517103610032
HP:0000820HP:0011780Thyroid hemiagenesis3TNPO3 CL E G H23534186ORPHA157517103610032
HP:0000820HP:0011790Activating thyroid-stimulating hormone receptor defect3TNPO3 CL E G H23534186ORPHA157517103610032
HP:0000820HP:0033082Reduced TSH response to thyrotrophin-releasing hormone stimulation test3TNPO3 CL E G H23534186ORPHA157517103610032
HP:0000820HP:0009798Euthyroid goiter3TNPO3 CL E G H23534186ORPHA157517103610032
HP:0000820HP:0011783Thyrotoxicosis from ectopic thyroid tissue3TNPO3 CL E G H23534186ORPHA157517103610032
HP:0000820HP:0012558Abnormal T3/T4 ratio3TNPO3 CL E G H23534186ORPHA157517103610032
HP:0000820HP:0011786Thyrotoxicosis with toxic single thyroid nodule3TNPO3 CL E G H23534186ORPHA157517103610032
HP:0000820HP:0008223Compensated hypothyroidism3TNPO3 CL E G H23534186ORPHA157517103610032
HP:0000820HP:0008191Thyroid agenesis3TNPO3 CL E G H23534186ORPHA157517103610032
HP:0000820HP:0032209Abnormal circulating free T3 level3TNPO3 CL E G H23534186ORPHA157517103610032
HP:0000820HP:0033081Absent TSH response to thyrotrophin-releasing hormone stimulation test3TNPO3 CL E G H23534186ORPHA157517103610032
HP:0000820HP:0008251Congenital goiter3TNPO3 CL E G H23534186ORPHA157517103610032
HP:0000820HP:0011782Thyroid crisis3TNPO3 CL E G H23534186ORPHA157517103610032
HP:0000820HP:0011785Thyrotoxicosis with toxic multinodular goiter3TNPO3 CL E G H23534186ORPHA157517103610032
HP:0000820HP:0011787Central hypothyroidism3TNPO3 CL E G H23534186ORPHA157517103610032
HP:0000820HP:0033076Abnormal circulating free T4 level3TNPO3 CL E G H23534186ORPHA157517103610032
HP:0000820HP:0005994Nodular goiter3TNPO3 CL E G H23534186ORPHA157517103610032
HP:0000820HP:0000854Thyroid adenoma3TNPO3 CL E G H23534186ORPHA157517103610032
HP:0000820HP:0008225Thyroid follicular hyperplasia3TNPO3 CL E G H23534186ORPHA157517103610032
HP:0000820HP:0012560Decreased T3/T4 ratio4CASR CL E G H846417Aloi Tomasini Isaia syndromeORPHA123301514601199
HP:0000820HP:0011774Thyroid follicular adenoma4CASR CL E G H846417Aloi Tomasini Isaia syndromeORPHA123301514601199
HP:0000820HP:0040198Non-medullary thyroid carcinoma4CASR CL E G H846417Aloi Tomasini Isaia syndromeORPHA123301514601199
HP:0000820HP:0011788Increased circulating free T34CASR CL E G H846417Aloi Tomasini Isaia syndromeORPHA123301514601199
HP:0000820HP:0000866Euthyroid multinodular goiter4CASR CL E G H846417Aloi Tomasini Isaia syndromeORPHA123301514601199
HP:0000820HP:0033077Increased circulating free T4 level4CASR CL E G H846417Aloi Tomasini Isaia syndromeORPHA123301514601199
HP:0000820HP:0011773Uninodular goiter4CASR CL E G H846417Aloi Tomasini Isaia syndromeORPHA123301514601199
HP:0000820HP:0011778Thyroid atypical adenoma4CASR CL E G H846417Aloi Tomasini Isaia syndromeORPHA123301514601199
HP:0000820HP:0008245Pituitary hypothyroidism4CASR CL E G H846417Aloi Tomasini Isaia syndromeORPHA123301514601199
HP:0000820HP:0011777Thyroid papillary adenoma4CASR CL E G H846417Aloi Tomasini Isaia syndromeORPHA123301514601199
HP:0000820HP:0002865Medullary thyroid carcinoma4CASR CL E G H846417Aloi Tomasini Isaia syndromeORPHA123301514601199
HP:0000820HP:0032210Decreased circulating free T34CASR CL E G H846417Aloi Tomasini Isaia syndromeORPHA123301514601199
HP:0000820HP:0005987Multinodular goiter4CASR CL E G H846417Aloi Tomasini Isaia syndromeORPHA123301514601199
HP:0000820HP:0100029Lingual thyroid4CASR CL E G H846417Aloi Tomasini Isaia syndromeORPHA123301514601199
HP:0000820HP:0031506Increased circulating T4 level4CASR CL E G H846417Aloi Tomasini Isaia syndromeORPHA123301514601199
HP:0000820HP:0006781Hurthle cell thyroid adenoma4CASR CL E G H846417Aloi Tomasini Isaia syndromeORPHA123301514601199
HP:0000820HP:0008237Hypothalamic hypothyroidism4CASR CL E G H846417Aloi Tomasini Isaia syndromeORPHA123301514601199
HP:0000820HP:0006731Follicular thyroid carcinoma4CASR CL E G H846417Aloi Tomasini Isaia syndromeORPHA123301514601199
HP:0000820HP:0033078Decreased circulating free T4 level4CASR CL E G H846417Aloi Tomasini Isaia syndromeORPHA123301514601199
HP:0000820HP:0100030Accessory ectopic thyroid tissue4CASR CL E G H846417Aloi Tomasini Isaia syndromeORPHA123301514601199
HP:0000820HP:0031507Decreased circulating T4 level4CASR CL E G H846417Aloi Tomasini Isaia syndromeORPHA123301514601199
HP:0000820HP:0100647Graves disease4CASR CL E G H846417Aloi Tomasini Isaia syndromeORPHA123301514601199
HP:0000820HP:0012559Increased T3/T4 ratio4CASR CL E G H846417Aloi Tomasini Isaia syndromeORPHA123301514601199
HP:0000820HP:0011779Anaplastic thyroid carcinoma4CASR CL E G H846417Aloi Tomasini Isaia syndromeORPHA123301514601199
HP:0000820HP:0002895Papillary thyroid carcinoma4CASR CL E G H846417Aloi Tomasini Isaia syndromeORPHA123301514601199
HP:0000820HP:0011774Thyroid follicular adenoma4IL12A CL E G H3592186ORPHA1345969161560
HP:0000820HP:0040198Non-medullary thyroid carcinoma4IL12A CL E G H3592186ORPHA1345969161560
HP:0000820HP:0011788Increased circulating free T34IL12A CL E G H3592186ORPHA1345969161560
HP:0000820HP:0000866Euthyroid multinodular goiter4IL12A CL E G H3592186ORPHA1345969161560
HP:0000820HP:0012560Decreased T3/T4 ratio4IL12A CL E G H3592186ORPHA1345969161560
HP:0000820HP:0008245Pituitary hypothyroidism4IL12A CL E G H3592186ORPHA1345969161560
HP:0000820HP:0011777Thyroid papillary adenoma4IL12A CL E G H3592186ORPHA1345969161560
HP:0000820HP:0002865Medullary thyroid carcinoma4IL12A CL E G H3592186ORPHA1345969161560
HP:0000820HP:0032210Decreased circulating free T34IL12A CL E G H3592186ORPHA1345969161560
HP:0000820HP:0033077Increased circulating free T4 level4IL12A CL E G H3592186ORPHA1345969161560
HP:0000820HP:0011773Uninodular goiter4IL12A CL E G H3592186ORPHA1345969161560
HP:0000820HP:0011778Thyroid atypical adenoma4IL12A CL E G H3592186ORPHA1345969161560
HP:0000820HP:0008237Hypothalamic hypothyroidism4IL12A CL E G H3592186ORPHA1345969161560
HP:0000820HP:0006731Follicular thyroid carcinoma4IL12A CL E G H3592186ORPHA1345969161560
HP:0000820HP:0033078Decreased circulating free T4 level4IL12A CL E G H3592186ORPHA1345969161560
HP:0000820HP:0005987Multinodular goiter4IL12A CL E G H3592186ORPHA1345969161560
HP:0000820HP:0100029Lingual thyroid4IL12A CL E G H3592186ORPHA1345969161560
HP:0000820HP:0031506Increased circulating T4 level4IL12A CL E G H3592186ORPHA1345969161560
HP:0000820HP:0006781Hurthle cell thyroid adenoma4IL12A CL E G H3592186ORPHA1345969161560
HP:0000820HP:0011779Anaplastic thyroid carcinoma4IL12A CL E G H3592186ORPHA1345969161560
HP:0000820HP:0002895Papillary thyroid carcinoma4IL12A CL E G H3592186ORPHA1345969161560
HP:0000820HP:0100030Accessory ectopic thyroid tissue4IL12A CL E G H3592186ORPHA1345969161560
HP:0000820HP:0031507Decreased circulating T4 level4IL12A CL E G H3592186ORPHA1345969161560
HP:0000820HP:0100647Graves disease4IL12A CL E G H3592186ORPHA1345969161560
HP:0000820HP:0012559Increased T3/T4 ratio4IL12A CL E G H3592186ORPHA1345969161560
HP:0000820HP:0012560Decreased T3/T4 ratio4IL12RB1 CL E G H3594186ORPHA14655971601604
HP:0000820HP:0011774Thyroid follicular adenoma4IL12RB1 CL E G H3594186ORPHA14655971601604
HP:0000820HP:0040198Non-medullary thyroid carcinoma4IL12RB1 CL E G H3594186ORPHA14655971601604
HP:0000820HP:0011788Increased circulating free T34IL12RB1 CL E G H3594186ORPHA14655971601604
HP:0000820HP:0000866Euthyroid multinodular goiter4IL12RB1 CL E G H3594186ORPHA14655971601604
HP:0000820HP:0011773Uninodular goiter4IL12RB1 CL E G H3594186ORPHA14655971601604
HP:0000820HP:0011778Thyroid atypical adenoma4IL12RB1 CL E G H3594186ORPHA14655971601604
HP:0000820HP:0008245Pituitary hypothyroidism4IL12RB1 CL E G H3594186ORPHA14655971601604
HP:0000820HP:0011777Thyroid papillary adenoma4IL12RB1 CL E G H3594186ORPHA14655971601604
HP:0000820HP:0002865Medullary thyroid carcinoma4IL12RB1 CL E G H3594186ORPHA14655971601604
HP:0000820HP:0032210Decreased circulating free T34IL12RB1 CL E G H3594186ORPHA14655971601604
HP:0000820HP:0033077Increased circulating free T4 level4IL12RB1 CL E G H3594186ORPHA14655971601604
HP:0000820HP:0100029Lingual thyroid4IL12RB1 CL E G H3594186ORPHA14655971601604
HP:0000820HP:0031506Increased circulating T4 level4IL12RB1 CL E G H3594186ORPHA14655971601604
HP:0000820HP:0006781Hurthle cell thyroid adenoma4IL12RB1 CL E G H3594186ORPHA14655971601604
HP:0000820HP:0008237Hypothalamic hypothyroidism4IL12RB1 CL E G H3594186ORPHA14655971601604
HP:0000820HP:0006731Follicular thyroid carcinoma4IL12RB1 CL E G H3594186ORPHA14655971601604
HP:0000820HP:0033078Decreased circulating free T4 level4IL12RB1 CL E G H3594186ORPHA14655971601604
HP:0000820HP:0005987Multinodular goiter4IL12RB1 CL E G H3594186ORPHA14655971601604
HP:0000820HP:0100030Accessory ectopic thyroid tissue4IL12RB1 CL E G H3594186ORPHA14655971601604
HP:0000820HP:0031507Decreased circulating T4 level4IL12RB1 CL E G H3594186ORPHA14655971601604
HP:0000820HP:0100647Graves disease4IL12RB1 CL E G H3594186ORPHA14655971601604
HP:0000820HP:0012559Increased T3/T4 ratio4IL12RB1 CL E G H3594186ORPHA14655971601604
HP:0000820HP:0011779Anaplastic thyroid carcinoma4IL12RB1 CL E G H3594186ORPHA14655971601604
HP:0000820HP:0002895Papillary thyroid carcinoma4IL12RB1 CL E G H3594186ORPHA14655971601604
HP:0000820HP:0002895Papillary thyroid carcinoma4INSR CL E G H3643769ORPHA16226091147670
HP:0000820HP:0100030Accessory ectopic thyroid tissue4INSR CL E G H3643769ORPHA16226091147670
HP:0000820HP:0031507Decreased circulating T4 level4INSR CL E G H3643769ORPHA16226091147670
HP:0000820HP:0100647Graves disease4INSR CL E G H3643769ORPHA16226091147670
HP:0000820HP:0012559Increased T3/T4 ratio4INSR CL E G H3643769ORPHA16226091147670
HP:0000820HP:0011779Anaplastic thyroid carcinoma4INSR CL E G H3643769ORPHA16226091147670
HP:0000820HP:0040198Non-medullary thyroid carcinoma4INSR CL E G H3643769ORPHA16226091147670
HP:0000820HP:0011788Increased circulating free T34INSR CL E G H3643769ORPHA16226091147670
HP:0000820HP:0000866Euthyroid multinodular goiter4INSR CL E G H3643769ORPHA16226091147670
HP:0000820HP:0012560Decreased T3/T4 ratio4INSR CL E G H3643769ORPHA16226091147670
HP:0000820HP:0011774Thyroid follicular adenoma4INSR CL E G H3643769ORPHA16226091147670
HP:0000820HP:0002865Medullary thyroid carcinoma4INSR CL E G H3643769ORPHA16226091147670
HP:0000820HP:0032210Decreased circulating free T34INSR CL E G H3643769ORPHA16226091147670
HP:0000820HP:0033077Increased circulating free T4 level4INSR CL E G H3643769ORPHA16226091147670
HP:0000820HP:0011773Uninodular goiter4INSR CL E G H3643769ORPHA16226091147670
HP:0000820HP:0011778Thyroid atypical adenoma4INSR CL E G H3643769ORPHA16226091147670
HP:0000820HP:0008245Pituitary hypothyroidism4INSR CL E G H3643769ORPHA16226091147670
HP:0000820HP:0011777Thyroid papillary adenoma4INSR CL E G H3643769ORPHA16226091147670
HP:0000820HP:0033078Decreased circulating free T4 level4INSR CL E G H3643769ORPHA16226091147670
HP:0000820HP:0005987Multinodular goiter4INSR CL E G H3643769ORPHA16226091147670
HP:0000820HP:0100029Lingual thyroid4INSR CL E G H3643769ORPHA16226091147670
HP:0000820HP:0031506Increased circulating T4 level4INSR CL E G H3643769ORPHA16226091147670
HP:0000820HP:0006781Hurthle cell thyroid adenoma4INSR CL E G H3643769ORPHA16226091147670
HP:0000820HP:0008237Hypothalamic hypothyroidism4INSR CL E G H3643769ORPHA16226091147670
HP:0000820HP:0006731Follicular thyroid carcinoma4INSR CL E G H3643769ORPHA16226091147670
HP:0000820HP:0040198Non-medullary thyroid carcinoma4IRF5 CL E G H3663186ORPHA1656120607218
HP:0000820HP:0011788Increased circulating free T34IRF5 CL E G H3663186ORPHA1656120607218
HP:0000820HP:0000866Euthyroid multinodular goiter4IRF5 CL E G H3663186ORPHA1656120607218
HP:0000820HP:0012560Decreased T3/T4 ratio4IRF5 CL E G H3663186ORPHA1656120607218
HP:0000820HP:0011774Thyroid follicular adenoma4IRF5 CL E G H3663186ORPHA1656120607218
HP:0000820HP:0032210Decreased circulating free T34IRF5 CL E G H3663186ORPHA1656120607218
HP:0000820HP:0033077Increased circulating free T4 level4IRF5 CL E G H3663186ORPHA1656120607218
HP:0000820HP:0011773Uninodular goiter4IRF5 CL E G H3663186ORPHA1656120607218
HP:0000820HP:0011778Thyroid atypical adenoma4IRF5 CL E G H3663186ORPHA1656120607218
HP:0000820HP:0008245Pituitary hypothyroidism4IRF5 CL E G H3663186ORPHA1656120607218
HP:0000820HP:0011777Thyroid papillary adenoma4IRF5 CL E G H3663186ORPHA1656120607218
HP:0000820HP:0002865Medullary thyroid carcinoma4IRF5 CL E G H3663186ORPHA1656120607218
HP:0000820HP:0033078Decreased circulating free T4 level4IRF5 CL E G H3663186ORPHA1656120607218
HP:0000820HP:0005987Multinodular goiter4IRF5 CL E G H3663186ORPHA1656120607218
HP:0000820HP:0100029Lingual thyroid4IRF5 CL E G H3663186ORPHA1656120607218
HP:0000820HP:0031506Increased circulating T4 level4IRF5 CL E G H3663186ORPHA1656120607218
HP:0000820HP:0006781Hurthle cell thyroid adenoma4IRF5 CL E G H3663186ORPHA1656120607218
HP:0000820HP:0008237Hypothalamic hypothyroidism4IRF5 CL E G H3663186ORPHA1656120607218
HP:0000820HP:0006731Follicular thyroid carcinoma4IRF5 CL E G H3663186ORPHA1656120607218
HP:0000820HP:0002895Papillary thyroid carcinoma4IRF5 CL E G H3663186ORPHA1656120607218
HP:0000820HP:0100030Accessory ectopic thyroid tissue4IRF5 CL E G H3663186ORPHA1656120607218
HP:0000820HP:0031507Decreased circulating T4 level4IRF5 CL E G H3663186ORPHA1656120607218
HP:0000820HP:0100647Graves disease4IRF5 CL E G H3663186ORPHA1656120607218
HP:0000820HP:0012559Increased T3/T4 ratio4IRF5 CL E G H3663186ORPHA1656120607218
HP:0000820HP:0011779Anaplastic thyroid carcinoma4IRF5 CL E G H3663186ORPHA1656120607218
HP:0000820HP:0012560Decreased T3/T4 ratio4MEN1 CL E G H4221131100Multiple endocrine neoplasia, type 1131100C0025267OMIM121737010613733
HP:0000820HP:0011774Thyroid follicular adenoma4MEN1 CL E G H4221131100Multiple endocrine neoplasia, type 1131100C0025267OMIM121737010613733
HP:0000820HP:0040198Non-medullary thyroid carcinoma4MEN1 CL E G H4221131100Multiple endocrine neoplasia, type 1131100C0025267OMIM121737010613733
HP:0000820HP:0011788Increased circulating free T34MEN1 CL E G H4221131100Multiple endocrine neoplasia, type 1131100C0025267OMIM121737010613733
HP:0000820HP:0000866Euthyroid multinodular goiter4MEN1 CL E G H4221131100Multiple endocrine neoplasia, type 1131100C0025267OMIM121737010613733
HP:0000820HP:0011778Thyroid atypical adenoma4MEN1 CL E G H4221131100Multiple endocrine neoplasia, type 1131100C0025267OMIM121737010613733
HP:0000820HP:0008245Pituitary hypothyroidism4MEN1 CL E G H4221131100Multiple endocrine neoplasia, type 1131100C0025267OMIM121737010613733
HP:0000820HP:0011777Thyroid papillary adenoma4MEN1 CL E G H4221131100Multiple endocrine neoplasia, type 1131100C0025267OMIM121737010613733
HP:0000820HP:0002865Medullary thyroid carcinoma4MEN1 CL E G H4221131100Multiple endocrine neoplasia, type 1131100C0025267OMIM121737010613733
HP:0000820HP:0032210Decreased circulating free T34MEN1 CL E G H4221131100Multiple endocrine neoplasia, type 1131100C0025267OMIM121737010613733
HP:0000820HP:0033077Increased circulating free T4 level4MEN1 CL E G H4221131100Multiple endocrine neoplasia, type 1131100C0025267OMIM121737010613733
HP:0000820HP:0011773Uninodular goiter4MEN1 CL E G H4221131100Multiple endocrine neoplasia, type 1131100C0025267OMIM121737010613733
HP:0000820HP:0006781Hurthle cell thyroid adenoma4MEN1 CL E G H4221131100Multiple endocrine neoplasia, type 1131100C0025267OMIM121737010613733
HP:0000820HP:0008237Hypothalamic hypothyroidism4MEN1 CL E G H4221131100Multiple endocrine neoplasia, type 1131100C0025267OMIM121737010613733
HP:0000820HP:0006731Follicular thyroid carcinoma4MEN1 CL E G H4221131100Multiple endocrine neoplasia, type 1131100C0025267OMIM121737010613733
HP:0000820HP:0033078Decreased circulating free T4 level4MEN1 CL E G H4221131100Multiple endocrine neoplasia, type 1131100C0025267OMIM121737010613733
HP:0000820HP:0005987Multinodular goiter4MEN1 CL E G H4221131100Multiple endocrine neoplasia, type 1131100C0025267OMIM121737010613733
HP:0000820HP:0100029Lingual thyroid4MEN1 CL E G H4221131100Multiple endocrine neoplasia, type 1131100C0025267OMIM121737010613733
HP:0000820HP:0031506Increased circulating T4 level4MEN1 CL E G H4221131100Multiple endocrine neoplasia, type 1131100C0025267OMIM121737010613733
HP:0000820HP:0012559Increased T3/T4 ratio4MEN1 CL E G H4221131100Multiple endocrine neoplasia, type 1131100C0025267OMIM121737010613733
HP:0000820HP:0011779Anaplastic thyroid carcinoma4MEN1 CL E G H4221131100Multiple endocrine neoplasia, type 1131100C0025267OMIM121737010613733
HP:0000820HP:0002895Papillary thyroid carcinoma4MEN1 CL E G H4221131100Multiple endocrine neoplasia, type 1131100C0025267OMIM121737010613733
HP:0000820HP:0100030Accessory ectopic thyroid tissue4MEN1 CL E G H4221131100Multiple endocrine neoplasia, type 1131100C0025267OMIM121737010613733
HP:0000820HP:0031507Decreased circulating T4 level4MEN1 CL E G H4221131100Multiple endocrine neoplasia, type 1131100C0025267OMIM121737010613733
HP:0000820HP:0100647Graves disease4MEN1 CL E G H4221131100Multiple endocrine neoplasia, type 1131100C0025267OMIM121737010613733
HP:0000820HP:0040198Non-medullary thyroid carcinoma4MMEL1 CL E G H79258186ORPHA118114668618104
HP:0000820HP:0011788Increased circulating free T34MMEL1 CL E G H79258186ORPHA118114668618104
HP:0000820HP:0000866Euthyroid multinodular goiter4MMEL1 CL E G H79258186ORPHA118114668618104
HP:0000820HP:0012560Decreased T3/T4 ratio4MMEL1 CL E G H79258186ORPHA118114668618104
HP:0000820HP:0011774Thyroid follicular adenoma4MMEL1 CL E G H79258186ORPHA118114668618104
HP:0000820HP:0011777Thyroid papillary adenoma4MMEL1 CL E G H79258186ORPHA118114668618104
HP:0000820HP:0002865Medullary thyroid carcinoma4MMEL1 CL E G H79258186ORPHA118114668618104
HP:0000820HP:0032210Decreased circulating free T34MMEL1 CL E G H79258186ORPHA118114668618104
HP:0000820HP:0033077Increased circulating free T4 level4MMEL1 CL E G H79258186ORPHA118114668618104
HP:0000820HP:0011773Uninodular goiter4MMEL1 CL E G H79258186ORPHA118114668618104
HP:0000820HP:0011778Thyroid atypical adenoma4MMEL1 CL E G H79258186ORPHA118114668618104
HP:0000820HP:0008245Pituitary hypothyroidism4MMEL1 CL E G H79258186ORPHA118114668618104
HP:0000820HP:0006731Follicular thyroid carcinoma4MMEL1 CL E G H79258186ORPHA118114668618104
HP:0000820HP:0033078Decreased circulating free T4 level4MMEL1 CL E G H79258186ORPHA118114668618104
HP:0000820HP:0005987Multinodular goiter4MMEL1 CL E G H79258186ORPHA118114668618104
HP:0000820HP:0100029Lingual thyroid4MMEL1 CL E G H79258186ORPHA118114668618104
HP:0000820HP:0031506Increased circulating T4 level4MMEL1 CL E G H79258186ORPHA118114668618104
HP:0000820HP:0006781Hurthle cell thyroid adenoma4MMEL1 CL E G H79258186ORPHA118114668618104
HP:0000820HP:0008237Hypothalamic hypothyroidism4MMEL1 CL E G H79258186ORPHA118114668618104
HP:0000820HP:0011779Anaplastic thyroid carcinoma4MMEL1 CL E G H79258186ORPHA118114668618104
HP:0000820HP:0002895Papillary thyroid carcinoma4MMEL1 CL E G H79258186ORPHA118114668618104
HP:0000820HP:0100030Accessory ectopic thyroid tissue4MMEL1 CL E G H79258186ORPHA118114668618104
HP:0000820HP:0031507Decreased circulating T4 level4MMEL1 CL E G H79258186ORPHA118114668618104
HP:0000820HP:0100647Graves disease4MMEL1 CL E G H79258186ORPHA118114668618104
HP:0000820HP:0012559Increased T3/T4 ratio4MMEL1 CL E G H79258186ORPHA118114668618104
HP:0000820HP:0012560Decreased T3/T4 ratio4POU2AF1 CL E G H5450186ORPHA1399211601206
HP:0000820HP:0011774Thyroid follicular adenoma4POU2AF1 CL E G H5450186ORPHA1399211601206
HP:0000820HP:0040198Non-medullary thyroid carcinoma4POU2AF1 CL E G H5450186ORPHA1399211601206
HP:0000820HP:0011788Increased circulating free T34POU2AF1 CL E G H5450186ORPHA1399211601206
HP:0000820HP:0000866Euthyroid multinodular goiter4POU2AF1 CL E G H5450186ORPHA1399211601206
HP:0000820HP:0011778Thyroid atypical adenoma4POU2AF1 CL E G H5450186ORPHA1399211601206
HP:0000820HP:0008245Pituitary hypothyroidism4POU2AF1 CL E G H5450186ORPHA1399211601206
HP:0000820HP:0011777Thyroid papillary adenoma4POU2AF1 CL E G H5450186ORPHA1399211601206
HP:0000820HP:0002865Medullary thyroid carcinoma4POU2AF1 CL E G H5450186ORPHA1399211601206
HP:0000820HP:0032210Decreased circulating free T34POU2AF1 CL E G H5450186ORPHA1399211601206
HP:0000820HP:0033077Increased circulating free T4 level4POU2AF1 CL E G H5450186ORPHA1399211601206
HP:0000820HP:0011773Uninodular goiter4POU2AF1 CL E G H5450186ORPHA1399211601206
HP:0000820HP:0031506Increased circulating T4 level4POU2AF1 CL E G H5450186ORPHA1399211601206
HP:0000820HP:0006781Hurthle cell thyroid adenoma4POU2AF1 CL E G H5450186ORPHA1399211601206
HP:0000820HP:0008237Hypothalamic hypothyroidism4POU2AF1 CL E G H5450186ORPHA1399211601206
HP:0000820HP:0006731Follicular thyroid carcinoma4POU2AF1 CL E G H5450186ORPHA1399211601206
HP:0000820HP:0033078Decreased circulating free T4 level4POU2AF1 CL E G H5450186ORPHA1399211601206
HP:0000820HP:0005987Multinodular goiter4POU2AF1 CL E G H5450186ORPHA1399211601206
HP:0000820HP:0100029Lingual thyroid4POU2AF1 CL E G H5450186ORPHA1399211601206
HP:0000820HP:0012559Increased T3/T4 ratio4POU2AF1 CL E G H5450186ORPHA1399211601206
HP:0000820HP:0011779Anaplastic thyroid carcinoma4POU2AF1 CL E G H5450186ORPHA1399211601206
HP:0000820HP:0002895Papillary thyroid carcinoma4POU2AF1 CL E G H5450186ORPHA1399211601206
HP:0000820HP:0100030Accessory ectopic thyroid tissue4POU2AF1 CL E G H5450186ORPHA1399211601206
HP:0000820HP:0031507Decreased circulating T4 level4POU2AF1 CL E G H5450186ORPHA1399211601206
HP:0000820HP:0100647Graves disease4POU2AF1 CL E G H5450186ORPHA1399211601206
HP:0000820HP:0012560Decreased T3/T4 ratio4RAI1 CL E G H10743182290Smith-Magenis syndrome182290C0795864OMIM116089834607642
HP:0000820HP:0011774Thyroid follicular adenoma4RAI1 CL E G H10743182290Smith-Magenis syndrome182290C0795864OMIM116089834607642
HP:0000820HP:0040198Non-medullary thyroid carcinoma4RAI1 CL E G H10743182290Smith-Magenis syndrome182290C0795864OMIM116089834607642
HP:0000820HP:0011788Increased circulating free T34RAI1 CL E G H10743182290Smith-Magenis syndrome182290C0795864OMIM116089834607642
HP:0000820HP:0000866Euthyroid multinodular goiter4RAI1 CL E G H10743182290Smith-Magenis syndrome182290C0795864OMIM116089834607642
HP:0000820HP:0033077Increased circulating free T4 level4RAI1 CL E G H10743182290Smith-Magenis syndrome182290C0795864OMIM116089834607642
HP:0000820HP:0011773Uninodular goiter4RAI1 CL E G H10743182290Smith-Magenis syndrome182290C0795864OMIM116089834607642
HP:0000820HP:0011778Thyroid atypical adenoma4RAI1 CL E G H10743182290Smith-Magenis syndrome182290C0795864OMIM116089834607642
HP:0000820HP:0008245Pituitary hypothyroidism4RAI1 CL E G H10743182290Smith-Magenis syndrome182290C0795864OMIM116089834607642
HP:0000820HP:0011777Thyroid papillary adenoma4RAI1 CL E G H10743182290Smith-Magenis syndrome182290C0795864OMIM116089834607642
HP:0000820HP:0002865Medullary thyroid carcinoma4RAI1 CL E G H10743182290Smith-Magenis syndrome182290C0795864OMIM116089834607642
HP:0000820HP:0032210Decreased circulating free T34RAI1 CL E G H10743182290Smith-Magenis syndrome182290C0795864OMIM116089834607642
HP:0000820HP:0033078Decreased circulating free T4 level4RAI1 CL E G H10743182290Smith-Magenis syndrome182290C0795864OMIM116089834607642
HP:0000820HP:0005987Multinodular goiter4RAI1 CL E G H10743182290Smith-Magenis syndrome182290C0795864OMIM116089834607642
HP:0000820HP:0100029Lingual thyroid4RAI1 CL E G H10743182290Smith-Magenis syndrome182290C0795864OMIM116089834607642
HP:0000820HP:0031506Increased circulating T4 level4RAI1 CL E G H10743182290Smith-Magenis syndrome182290C0795864OMIM116089834607642
HP:0000820HP:0006781Hurthle cell thyroid adenoma4RAI1 CL E G H10743182290Smith-Magenis syndrome182290C0795864OMIM116089834607642
HP:0000820HP:0008237Hypothalamic hypothyroidism4RAI1 CL E G H10743182290Smith-Magenis syndrome182290C0795864OMIM116089834607642
HP:0000820HP:0006731Follicular thyroid carcinoma4RAI1 CL E G H10743182290Smith-Magenis syndrome182290C0795864OMIM116089834607642
HP:0000820HP:0100030Accessory ectopic thyroid tissue4RAI1 CL E G H10743182290Smith-Magenis syndrome182290C0795864OMIM116089834607642
HP:0000820HP:0031507Decreased circulating T4 level4RAI1 CL E G H10743182290Smith-Magenis syndrome182290C0795864OMIM116089834607642
HP:0000820HP:0100647Graves disease4RAI1 CL E G H10743182290Smith-Magenis syndrome182290C0795864OMIM116089834607642
HP:0000820HP:0012559Increased T3/T4 ratio4RAI1 CL E G H10743182290Smith-Magenis syndrome182290C0795864OMIM116089834607642
HP:0000820HP:0011779Anaplastic thyroid carcinoma4RAI1 CL E G H10743182290Smith-Magenis syndrome182290C0795864OMIM116089834607642
HP:0000820HP:0002895Papillary thyroid carcinoma4RAI1 CL E G H10743182290Smith-Magenis syndrome182290C0795864OMIM116089834607642
HP:0000820HP:0000866Euthyroid multinodular goiter4SPIB CL E G H6689186ORPHA13411242606802
HP:0000820HP:0012560Decreased T3/T4 ratio4SPIB CL E G H6689186ORPHA13411242606802
HP:0000820HP:0011774Thyroid follicular adenoma4SPIB CL E G H6689186ORPHA13411242606802
HP:0000820HP:0040198Non-medullary thyroid carcinoma4SPIB CL E G H6689186ORPHA13411242606802
HP:0000820HP:0011788Increased circulating free T34SPIB CL E G H6689186ORPHA13411242606802
HP:0000820HP:0033077Increased circulating free T4 level4SPIB CL E G H6689186ORPHA13411242606802
HP:0000820HP:0011773Uninodular goiter4SPIB CL E G H6689186ORPHA13411242606802
HP:0000820HP:0011778Thyroid atypical adenoma4SPIB CL E G H6689186ORPHA13411242606802
HP:0000820HP:0008245Pituitary hypothyroidism4SPIB CL E G H6689186ORPHA13411242606802
HP:0000820HP:0011777Thyroid papillary adenoma4SPIB CL E G H6689186ORPHA13411242606802
HP:0000820HP:0002865Medullary thyroid carcinoma4SPIB CL E G H6689186ORPHA13411242606802
HP:0000820HP:0032210Decreased circulating free T34SPIB CL E G H6689186ORPHA13411242606802
HP:0000820HP:0033078Decreased circulating free T4 level4SPIB CL E G H6689186ORPHA13411242606802
HP:0000820HP:0005987Multinodular goiter4SPIB CL E G H6689186ORPHA13411242606802
HP:0000820HP:0100029Lingual thyroid4SPIB CL E G H6689186ORPHA13411242606802
HP:0000820HP:0031506Increased circulating T4 level4SPIB CL E G H6689186ORPHA13411242606802
HP:0000820HP:0006781Hurthle cell thyroid adenoma4SPIB CL E G H6689186ORPHA13411242606802
HP:0000820HP:0008237Hypothalamic hypothyroidism4SPIB CL E G H6689186ORPHA13411242606802
HP:0000820HP:0006731Follicular thyroid carcinoma4SPIB CL E G H6689186ORPHA13411242606802
HP:0000820HP:0100030Accessory ectopic thyroid tissue4SPIB CL E G H6689186ORPHA13411242606802
HP:0000820HP:0031507Decreased circulating T4 level4SPIB CL E G H6689186ORPHA13411242606802
HP:0000820HP:0100647Graves disease4SPIB CL E G H6689186ORPHA13411242606802
HP:0000820HP:0012559Increased T3/T4 ratio4SPIB CL E G H6689186ORPHA13411242606802
HP:0000820HP:0011779Anaplastic thyroid carcinoma4SPIB CL E G H6689186ORPHA13411242606802
HP:0000820HP:0002895Papillary thyroid carcinoma4SPIB CL E G H6689186ORPHA13411242606802
HP:0000820HP:0031507Decreased circulating T4 level4THRB CL E G H70683221Leisti Hollister Rimoin syndromeORPHA134811799190160
HP:0000820HP:0100647Graves disease4THRB CL E G H70683221Leisti Hollister Rimoin syndromeORPHA134811799190160
HP:0000820HP:0012559Increased T3/T4 ratio4THRB CL E G H70683221Leisti Hollister Rimoin syndromeORPHA134811799190160
HP:0000820HP:0011779Anaplastic thyroid carcinoma4THRB CL E G H70683221Leisti Hollister Rimoin syndromeORPHA134811799190160
HP:0000820HP:0002895Papillary thyroid carcinoma4THRB CL E G H70683221Leisti Hollister Rimoin syndromeORPHA134811799190160
HP:0000820HP:0100030Accessory ectopic thyroid tissue4THRB CL E G H70683221Leisti Hollister Rimoin syndromeORPHA134811799190160
HP:0000820HP:0012560Decreased T3/T4 ratio4THRB CL E G H70683221Leisti Hollister Rimoin syndromeORPHA134811799190160
HP:0000820HP:0011774Thyroid follicular adenoma4THRB CL E G H70683221Leisti Hollister Rimoin syndromeORPHA134811799190160
HP:0000820HP:0040198Non-medullary thyroid carcinoma4THRB CL E G H70683221Leisti Hollister Rimoin syndromeORPHA134811799190160
HP:0000820HP:0011788Increased circulating free T34THRB CL E G H70683221Leisti Hollister Rimoin syndromeORPHA134811799190160
HP:0000820HP:0000866Euthyroid multinodular goiter4THRB CL E G H70683221Leisti Hollister Rimoin syndromeORPHA134811799190160
HP:0000820HP:0011773Uninodular goiter4THRB CL E G H70683221Leisti Hollister Rimoin syndromeORPHA134811799190160
HP:0000820HP:0011778Thyroid atypical adenoma4THRB CL E G H70683221Leisti Hollister Rimoin syndromeORPHA134811799190160
HP:0000820HP:0008245Pituitary hypothyroidism4THRB CL E G H70683221Leisti Hollister Rimoin syndromeORPHA134811799190160
HP:0000820HP:0011777Thyroid papillary adenoma4THRB CL E G H70683221Leisti Hollister Rimoin syndromeORPHA134811799190160
HP:0000820HP:0002865Medullary thyroid carcinoma4THRB CL E G H70683221Leisti Hollister Rimoin syndromeORPHA134811799190160
HP:0000820HP:0032210Decreased circulating free T34THRB CL E G H70683221Leisti Hollister Rimoin syndromeORPHA134811799190160
HP:0000820HP:0033077Increased circulating free T4 level4THRB CL E G H70683221Leisti Hollister Rimoin syndromeORPHA134811799190160
HP:0000820HP:0100029Lingual thyroid4THRB CL E G H70683221Leisti Hollister Rimoin syndromeORPHA134811799190160
HP:0000820HP:0031506Increased circulating T4 level4THRB CL E G H70683221Leisti Hollister Rimoin syndromeORPHA134811799190160
HP:0000820HP:0006781Hurthle cell thyroid adenoma4THRB CL E G H70683221Leisti Hollister Rimoin syndromeORPHA134811799190160
HP:0000820HP:0008237Hypothalamic hypothyroidism4THRB CL E G H70683221Leisti Hollister Rimoin syndromeORPHA134811799190160
HP:0000820HP:0006731Follicular thyroid carcinoma4THRB CL E G H70683221Leisti Hollister Rimoin syndromeORPHA134811799190160
HP:0000820HP:0033078Decreased circulating free T4 level4THRB CL E G H70683221Leisti Hollister Rimoin syndromeORPHA134811799190160
HP:0000820HP:0005987Multinodular goiter4THRB CL E G H70683221Leisti Hollister Rimoin syndromeORPHA134811799190160
HP:0000820HP:0040198Non-medullary thyroid carcinoma4TNFSF15 CL E G H9966186ORPHA15011931604052
HP:0000820HP:0011788Increased circulating free T34TNFSF15 CL E G H9966186ORPHA15011931604052
HP:0000820HP:0000866Euthyroid multinodular goiter4TNFSF15 CL E G H9966186ORPHA15011931604052
HP:0000820HP:0012560Decreased T3/T4 ratio4TNFSF15 CL E G H9966186ORPHA15011931604052
HP:0000820HP:0011774Thyroid follicular adenoma4TNFSF15 CL E G H9966186ORPHA15011931604052
HP:0000820HP:0002865Medullary thyroid carcinoma4TNFSF15 CL E G H9966186ORPHA15011931604052
HP:0000820HP:0032210Decreased circulating free T34TNFSF15 CL E G H9966186ORPHA15011931604052
HP:0000820HP:0033077Increased circulating free T4 level4TNFSF15 CL E G H9966186ORPHA15011931604052
HP:0000820HP:0011773Uninodular goiter4TNFSF15 CL E G H9966186ORPHA15011931604052
HP:0000820HP:0011778Thyroid atypical adenoma4TNFSF15 CL E G H9966186ORPHA15011931604052
HP:0000820HP:0008245Pituitary hypothyroidism4TNFSF15 CL E G H9966186ORPHA15011931604052
HP:0000820HP:0011777Thyroid papillary adenoma4TNFSF15 CL E G H9966186ORPHA15011931604052
HP:0000820HP:0006731Follicular thyroid carcinoma4TNFSF15 CL E G H9966186ORPHA15011931604052
HP:0000820HP:0033078Decreased circulating free T4 level4TNFSF15 CL E G H9966186ORPHA15011931604052
HP:0000820HP:0005987Multinodular goiter4TNFSF15 CL E G H9966186ORPHA15011931604052
HP:0000820HP:0100029Lingual thyroid4TNFSF15 CL E G H9966186ORPHA15011931604052
HP:0000820HP:0031506Increased circulating T4 level4TNFSF15 CL E G H9966186ORPHA15011931604052
HP:0000820HP:0006781Hurthle cell thyroid adenoma4TNFSF15 CL E G H9966186ORPHA15011931604052
HP:0000820HP:0008237Hypothalamic hypothyroidism4TNFSF15 CL E G H9966186ORPHA15011931604052
HP:0000820HP:0011779Anaplastic thyroid carcinoma4TNFSF15 CL E G H9966186ORPHA15011931604052
HP:0000820HP:0002895Papillary thyroid carcinoma4TNFSF15 CL E G H9966186ORPHA15011931604052
HP:0000820HP:0100030Accessory ectopic thyroid tissue4TNFSF15 CL E G H9966186ORPHA15011931604052
HP:0000820HP:0031507Decreased circulating T4 level4TNFSF15 CL E G H9966186ORPHA15011931604052
HP:0000820HP:0100647Graves disease4TNFSF15 CL E G H9966186ORPHA15011931604052
HP:0000820HP:0012559Increased T3/T4 ratio4TNFSF15 CL E G H9966186ORPHA15011931604052
HP:0000820HP:0012560Decreased T3/T4 ratio4TNPO3 CL E G H23534186ORPHA157517103610032
HP:0000820HP:0011774Thyroid follicular adenoma4TNPO3 CL E G H23534186ORPHA157517103610032
HP:0000820HP:0040198Non-medullary thyroid carcinoma4TNPO3 CL E G H23534186ORPHA157517103610032
HP:0000820HP:0011788Increased circulating free T34TNPO3 CL E G H23534186ORPHA157517103610032
HP:0000820HP:0000866Euthyroid multinodular goiter4TNPO3 CL E G H23534186ORPHA157517103610032
HP:0000820HP:0011778Thyroid atypical adenoma4TNPO3 CL E G H23534186ORPHA157517103610032
HP:0000820HP:0008245Pituitary hypothyroidism4TNPO3 CL E G H23534186ORPHA157517103610032
HP:0000820HP:0011777Thyroid papillary adenoma4TNPO3 CL E G H23534186ORPHA157517103610032
HP:0000820HP:0002865Medullary thyroid carcinoma4TNPO3 CL E G H23534186ORPHA157517103610032
HP:0000820HP:0032210Decreased circulating free T34TNPO3 CL E G H23534186ORPHA157517103610032
HP:0000820HP:0033077Increased circulating free T4 level4TNPO3 CL E G H23534186ORPHA157517103610032
HP:0000820HP:0011773Uninodular goiter4TNPO3 CL E G H23534186ORPHA157517103610032
HP:0000820HP:0008237Hypothalamic hypothyroidism4TNPO3 CL E G H23534186ORPHA157517103610032
HP:0000820HP:0006731Follicular thyroid carcinoma4TNPO3 CL E G H23534186ORPHA157517103610032
HP:0000820HP:0033078Decreased circulating free T4 level4TNPO3 CL E G H23534186ORPHA157517103610032
HP:0000820HP:0005987Multinodular goiter4TNPO3 CL E G H23534186ORPHA157517103610032
HP:0000820HP:0100029Lingual thyroid4TNPO3 CL E G H23534186ORPHA157517103610032
HP:0000820HP:0031506Increased circulating T4 level4TNPO3 CL E G H23534186ORPHA157517103610032
HP:0000820HP:0006781Hurthle cell thyroid adenoma4TNPO3 CL E G H23534186ORPHA157517103610032
HP:0000820HP:0012559Increased T3/T4 ratio4TNPO3 CL E G H23534186ORPHA157517103610032
HP:0000820HP:0011779Anaplastic thyroid carcinoma4TNPO3 CL E G H23534186ORPHA157517103610032
HP:0000820HP:0002895Papillary thyroid carcinoma4TNPO3 CL E G H23534186ORPHA157517103610032
HP:0000820HP:0100030Accessory ectopic thyroid tissue4TNPO3 CL E G H23534186ORPHA157517103610032
HP:0000820HP:0031507Decreased circulating T4 level4TNPO3 CL E G H23534186ORPHA157517103610032
HP:0000820HP:0100647Graves disease4TNPO3 CL E G H23534186ORPHA157517103610032
HP:0000820HP:0011776Thyroid microfollicular adenoma5CASR CL E G H846417Aloi Tomasini Isaia syndromeORPHA123301514601199
HP:0000820HP:0011775Thyroid macrofollicular adenoma5CASR CL E G H846417Aloi Tomasini Isaia syndromeORPHA123301514601199
HP:0000820HP:0011776Thyroid microfollicular adenoma5IL12A CL E G H3592186ORPHA1345969161560
HP:0000820HP:0011775Thyroid macrofollicular adenoma5IL12A CL E G H3592186ORPHA1345969161560
HP:0000820HP:0011776Thyroid microfollicular adenoma5IL12RB1 CL E G H3594186ORPHA14655971601604
HP:0000820HP:0011775Thyroid macrofollicular adenoma5IL12RB1 CL E G H3594186ORPHA14655971601604
HP:0000820HP:0011775Thyroid macrofollicular adenoma5INSR CL E G H3643769ORPHA16226091147670
HP:0000820HP:0011776Thyroid microfollicular adenoma5INSR CL E G H3643769ORPHA16226091147670
HP:0000820HP:0011776Thyroid microfollicular adenoma5IRF5 CL E G H3663186ORPHA1656120607218
HP:0000820HP:0011775Thyroid macrofollicular adenoma5IRF5 CL E G H3663186ORPHA1656120607218
HP:0000820HP:0011776Thyroid microfollicular adenoma5MEN1 CL E G H4221131100Multiple endocrine neoplasia, type 1131100C0025267OMIM121737010613733
HP:0000820HP:0011775Thyroid macrofollicular adenoma5MEN1 CL E G H4221131100Multiple endocrine neoplasia, type 1131100C0025267OMIM121737010613733
HP:0000820HP:0011776Thyroid microfollicular adenoma5MMEL1 CL E G H79258186ORPHA118114668618104
HP:0000820HP:0011775Thyroid macrofollicular adenoma5MMEL1 CL E G H79258186ORPHA118114668618104
HP:0000820HP:0011776Thyroid microfollicular adenoma5POU2AF1 CL E G H5450186ORPHA1399211601206
HP:0000820HP:0011775Thyroid macrofollicular adenoma5POU2AF1 CL E G H5450186ORPHA1399211601206
HP:0000820HP:0011776Thyroid microfollicular adenoma5RAI1 CL E G H10743182290Smith-Magenis syndrome182290C0795864OMIM116089834607642
HP:0000820HP:0011775Thyroid macrofollicular adenoma5RAI1 CL E G H10743182290Smith-Magenis syndrome182290C0795864OMIM116089834607642
HP:0000820HP:0011776Thyroid microfollicular adenoma5SPIB CL E G H6689186ORPHA13411242606802
HP:0000820HP:0011775Thyroid macrofollicular adenoma5SPIB CL E G H6689186ORPHA13411242606802
HP:0000820HP:0011775Thyroid macrofollicular adenoma5THRB CL E G H70683221Leisti Hollister Rimoin syndromeORPHA134811799190160
HP:0000820HP:0011776Thyroid microfollicular adenoma5THRB CL E G H70683221Leisti Hollister Rimoin syndromeORPHA134811799190160
HP:0000820HP:0011776Thyroid microfollicular adenoma5TNFSF15 CL E G H9966186ORPHA15011931604052
HP:0000820HP:0011775Thyroid macrofollicular adenoma5TNFSF15 CL E G H9966186ORPHA15011931604052
HP:0000820HP:0011776Thyroid microfollicular adenoma5TNPO3 CL E G H23534186ORPHA157517103610032
HP:0000820HP:0011775Thyroid macrofollicular adenoma5TNPO3 CL E G H23534186ORPHA157517103610032
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000820HP:0000820Abnormality of the thyroid gland0BCL10 CL E G H891552417ORPHA0116989603517
HP:0000820HP:0000820Abnormality of the thyroid gland0BIRC3 CL E G H33052417ORPHA051591601721
HP:0000820HP:0000820Abnormality of the thyroid gland0FOXP1 CL E G H2708652417ORPHA07003823605515
HP:0000820HP:0000820Abnormality of the thyroid gland0IGH CL E G H349252417ORPHA01795477146910
HP:0000820HP:0000820Abnormality of the thyroid gland0MALT1 CL E G H1089252417ORPHA04226819604860
HP:0000820HP:0000820Abnormality of the thyroid gland0TWNK CL E G H56652609286Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3609286C1836439OMIM04501160606075
HP:0000820HP:0000820Abnormality of the thyroid gland0VPS13A CL E G H232302388ORPHA023621908605978
HP:0000820HP:0002926Abnormality of thyroid physiology1BCL10 CL E G H891552417ORPHA0116989603517
HP:0000820HP:0011772Abnormal thyroid morphology1BCL10 CL E G H891552417ORPHA0116989603517
HP:0000820HP:0002926Abnormality of thyroid physiology1BIRC3 CL E G H33052417ORPHA051591601721
HP:0000820HP:0011772Abnormal thyroid morphology1BIRC3 CL E G H33052417ORPHA051591601721
HP:0000820HP:0002926Abnormality of thyroid physiology1FOXP1 CL E G H2708652417ORPHA07003823605515
HP:0000820HP:0011772Abnormal thyroid morphology1FOXP1 CL E G H2708652417ORPHA07003823605515
HP:0000820HP:0002926Abnormality of thyroid physiology1IGH CL E G H349252417ORPHA01795477146910
HP:0000820HP:0011772Abnormal thyroid morphology1IGH CL E G H349252417ORPHA01795477146910
HP:0000820HP:0002926Abnormality of thyroid physiology1MALT1 CL E G H1089252417ORPHA04226819604860
HP:0000820HP:0011772Abnormal thyroid morphology1MALT1 CL E G H1089252417ORPHA04226819604860
HP:0000820HP:0011772Abnormal thyroid morphology1TWNK CL E G H56652609286Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3609286C1836439OMIM04501160606075
HP:0000820HP:0002926Abnormality of thyroid physiology1TWNK CL E G H56652609286Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3609286C1836439OMIM04501160606075
HP:0000820HP:0002926Abnormality of thyroid physiology1VPS13A CL E G H232302388ORPHA023621908605978
HP:0000820HP:0011772Abnormal thyroid morphology1VPS13A CL E G H232302388ORPHA023621908605978
HP:0000820HP:0000836Hyperthyroidism2BCL10 CL E G H891552417ORPHA0116989603517
HP:0000820HP:0033079Aplasia/Hypoplasia of the thyroid gland2BCL10 CL E G H891552417ORPHA0116989603517
HP:0000820HP:0002930Impaired sensitivity to thyroid hormone2BCL10 CL E G H891552417ORPHA0116989603517
HP:0000820HP:0031508Abnormal thyroid hormone level2BCL10 CL E G H891552417ORPHA0116989603517
HP:0000820HP:0033080Abnormal TSH response to thyrotrophin-releasing hormone stimulation test2BCL10 CL E G H891552417ORPHA0116989603517
HP:0000820HP:0000853Goiter2BCL10 CL E G H891552417ORPHA0116989603517
HP:0000820HP:0025482Positive perchlorate discharge test2BCL10 CL E G H891552417ORPHA0116989603517
HP:0000820HP:0008247Euthyroid hyperthyroxinemia2BCL10 CL E G H891552417ORPHA0116989603517
HP:0000820HP:0100031Neoplasm of the thyroid gland2BCL10 CL E G H891552417ORPHA0116989603517
HP:0000820HP:0000821Hypothyroidism2BCL10 CL E G H891552417ORPHA0116989603517
HP:0000820HP:0008229Thyroid lymphangiectasia2BCL10 CL E G H891552417ORPHA0116989603517
HP:0000820HP:0008188Thyroid dysgenesis2BCL10 CL E G H891552417ORPHA0116989603517
HP:0000820HP:0008249Thyroid hyperplasia2BCL10 CL E G H891552417ORPHA0116989603517
HP:0000820HP:0100646Thyroiditis2BCL10 CL E G H891552417ORPHA0116989603517
HP:0000820HP:0008263Thyroid defect in oxidation and organification of iodide2BCL10 CL E G H891552417ORPHA0116989603517
HP:0000820HP:0010518Thyroglossal cyst2BCL10 CL E G H891552417ORPHA0116989603517
HP:0000820HP:0025388Thyroid nodule2BCL10 CL E G H891552417ORPHA0116989603517
HP:0000820HP:0031221Abnormal radioactive iodine uptake test result2BCL10 CL E G H891552417ORPHA0116989603517
HP:0000820HP:0011789Impaired sensitivity to thyroid stimulating hormone2BCL10 CL E G H891552417ORPHA0116989603517
HP:0000820HP:0033079Aplasia/Hypoplasia of the thyroid gland2BIRC3 CL E G H33052417ORPHA051591601721
HP:0000820HP:0002930Impaired sensitivity to thyroid hormone2BIRC3 CL E G H33052417ORPHA051591601721
HP:0000820HP:0031508Abnormal thyroid hormone level2BIRC3 CL E G H33052417ORPHA051591601721
HP:0000820HP:0033080Abnormal TSH response to thyrotrophin-releasing hormone stimulation test2BIRC3 CL E G H33052417ORPHA051591601721
HP:0000820HP:0000853Goiter2BIRC3 CL E G H33052417ORPHA051591601721
HP:0000820HP:0025482Positive perchlorate discharge test2BIRC3 CL E G H33052417ORPHA051591601721
HP:0000820HP:0000836Hyperthyroidism2BIRC3 CL E G H33052417ORPHA051591601721
HP:0000820HP:0008229Thyroid lymphangiectasia2BIRC3 CL E G H33052417ORPHA051591601721
HP:0000820HP:0008247Euthyroid hyperthyroxinemia2BIRC3 CL E G H33052417ORPHA051591601721
HP:0000820HP:0100031Neoplasm of the thyroid gland2BIRC3 CL E G H33052417ORPHA051591601721
HP:0000820HP:0000821Hypothyroidism2BIRC3 CL E G H33052417ORPHA051591601721
HP:0000820HP:0008188Thyroid dysgenesis2BIRC3 CL E G H33052417ORPHA051591601721
HP:0000820HP:0008249Thyroid hyperplasia2BIRC3 CL E G H33052417ORPHA051591601721
HP:0000820HP:0100646Thyroiditis2BIRC3 CL E G H33052417ORPHA051591601721
HP:0000820HP:0031221Abnormal radioactive iodine uptake test result2BIRC3 CL E G H33052417ORPHA051591601721
HP:0000820HP:0011789Impaired sensitivity to thyroid stimulating hormone2BIRC3 CL E G H33052417ORPHA051591601721
HP:0000820HP:0008263Thyroid defect in oxidation and organification of iodide2BIRC3 CL E G H33052417ORPHA051591601721
HP:0000820HP:0010518Thyroglossal cyst2BIRC3 CL E G H33052417ORPHA051591601721
HP:0000820HP:0025388Thyroid nodule2BIRC3 CL E G H33052417ORPHA051591601721
HP:0000820HP:0033079Aplasia/Hypoplasia of the thyroid gland2FOXP1 CL E G H2708652417ORPHA07003823605515
HP:0000820HP:0031508Abnormal thyroid hormone level2FOXP1 CL E G H2708652417ORPHA07003823605515
HP:0000820HP:0033080Abnormal TSH response to thyrotrophin-releasing hormone stimulation test2FOXP1 CL E G H2708652417ORPHA07003823605515
HP:0000820HP:0000853Goiter2FOXP1 CL E G H2708652417ORPHA07003823605515
HP:0000820HP:0002930Impaired sensitivity to thyroid hormone2FOXP1 CL E G H2708652417ORPHA07003823605515
HP:0000820HP:0025482Positive perchlorate discharge test2FOXP1 CL E G H2708652417ORPHA07003823605515
HP:0000820HP:0000836Hyperthyroidism2FOXP1 CL E G H2708652417ORPHA07003823605515
HP:0000820HP:0008229Thyroid lymphangiectasia2FOXP1 CL E G H2708652417ORPHA07003823605515
HP:0000820HP:0100031Neoplasm of the thyroid gland2FOXP1 CL E G H2708652417ORPHA07003823605515
HP:0000820HP:0000821Hypothyroidism2FOXP1 CL E G H2708652417ORPHA07003823605515
HP:0000820HP:0008247Euthyroid hyperthyroxinemia2FOXP1 CL E G H2708652417ORPHA07003823605515
HP:0000820HP:0100646Thyroiditis2FOXP1 CL E G H2708652417ORPHA07003823605515
HP:0000820HP:0008188Thyroid dysgenesis2FOXP1 CL E G H2708652417ORPHA07003823605515
HP:0000820HP:0008249Thyroid hyperplasia2FOXP1 CL E G H2708652417ORPHA07003823605515
HP:0000820HP:0025388Thyroid nodule2FOXP1 CL E G H2708652417ORPHA07003823605515
HP:0000820HP:0031221Abnormal radioactive iodine uptake test result2FOXP1 CL E G H2708652417ORPHA07003823605515
HP:0000820HP:0010518Thyroglossal cyst2FOXP1 CL E G H2708652417ORPHA07003823605515
HP:0000820HP:0011789Impaired sensitivity to thyroid stimulating hormone2FOXP1 CL E G H2708652417ORPHA07003823605515
HP:0000820HP:0008263Thyroid defect in oxidation and organification of iodide2FOXP1 CL E G H2708652417ORPHA07003823605515
HP:0000820HP:0000836Hyperthyroidism2IGH CL E G H349252417ORPHA01795477146910
HP:0000820HP:0033079Aplasia/Hypoplasia of the thyroid gland2IGH CL E G H349252417ORPHA01795477146910
HP:0000820HP:0002930Impaired sensitivity to thyroid hormone2IGH CL E G H349252417ORPHA01795477146910
HP:0000820HP:0031508Abnormal thyroid hormone level2IGH CL E G H349252417ORPHA01795477146910
HP:0000820HP:0033080Abnormal TSH response to thyrotrophin-releasing hormone stimulation test2IGH CL E G H349252417ORPHA01795477146910
HP:0000820HP:0000853Goiter2IGH CL E G H349252417ORPHA01795477146910
HP:0000820HP:0025482Positive perchlorate discharge test2IGH CL E G H349252417ORPHA01795477146910
HP:0000820HP:0100031Neoplasm of the thyroid gland2IGH CL E G H349252417ORPHA01795477146910
HP:0000820HP:0000821Hypothyroidism2IGH CL E G H349252417ORPHA01795477146910
HP:0000820HP:0008229Thyroid lymphangiectasia2IGH CL E G H349252417ORPHA01795477146910
HP:0000820HP:0008247Euthyroid hyperthyroxinemia2IGH CL E G H349252417ORPHA01795477146910
HP:0000820HP:0008188Thyroid dysgenesis2IGH CL E G H349252417ORPHA01795477146910
HP:0000820HP:0008249Thyroid hyperplasia2IGH CL E G H349252417ORPHA01795477146910
HP:0000820HP:0100646Thyroiditis2IGH CL E G H349252417ORPHA01795477146910
HP:0000820HP:0010518Thyroglossal cyst2IGH CL E G H349252417ORPHA01795477146910
HP:0000820HP:0025388Thyroid nodule2IGH CL E G H349252417ORPHA01795477146910
HP:0000820HP:0031221Abnormal radioactive iodine uptake test result2IGH CL E G H349252417ORPHA01795477146910
HP:0000820HP:0011789Impaired sensitivity to thyroid stimulating hormone2IGH CL E G H349252417ORPHA01795477146910
HP:0000820HP:0008263Thyroid defect in oxidation and organification of iodide2IGH CL E G H349252417ORPHA01795477146910
HP:0000820HP:0031508Abnormal thyroid hormone level2MALT1 CL E G H1089252417ORPHA04226819604860
HP:0000820HP:0033080Abnormal TSH response to thyrotrophin-releasing hormone stimulation test2MALT1 CL E G H1089252417ORPHA04226819604860
HP:0000820HP:0000853Goiter2MALT1 CL E G H1089252417ORPHA04226819604860
HP:0000820HP:0025482Positive perchlorate discharge test2MALT1 CL E G H1089252417ORPHA04226819604860
HP:0000820HP:0000836Hyperthyroidism2MALT1 CL E G H1089252417ORPHA04226819604860
HP:0000820HP:0033079Aplasia/Hypoplasia of the thyroid gland2MALT1 CL E G H1089252417ORPHA04226819604860
HP:0000820HP:0002930Impaired sensitivity to thyroid hormone2MALT1 CL E G H1089252417ORPHA04226819604860
HP:0000820HP:0008229Thyroid lymphangiectasia2MALT1 CL E G H1089252417ORPHA04226819604860
HP:0000820HP:0008247Euthyroid hyperthyroxinemia2MALT1 CL E G H1089252417ORPHA04226819604860
HP:0000820HP:0100031Neoplasm of the thyroid gland2MALT1 CL E G H1089252417ORPHA04226819604860
HP:0000820HP:0000821Hypothyroidism2MALT1 CL E G H1089252417ORPHA04226819604860
HP:0000820HP:0008188Thyroid dysgenesis2MALT1 CL E G H1089252417ORPHA04226819604860
HP:0000820HP:0008249Thyroid hyperplasia2MALT1 CL E G H1089252417ORPHA04226819604860
HP:0000820HP:0100646Thyroiditis2MALT1 CL E G H1089252417ORPHA04226819604860
HP:0000820HP:0011789Impaired sensitivity to thyroid stimulating hormone2MALT1 CL E G H1089252417ORPHA04226819604860
HP:0000820HP:0008263Thyroid defect in oxidation and organification of iodide2MALT1 CL E G H1089252417ORPHA04226819604860
HP:0000820HP:0010518Thyroglossal cyst2MALT1 CL E G H1089252417ORPHA04226819604860
HP:0000820HP:0025388Thyroid nodule2MALT1 CL E G H1089252417ORPHA04226819604860
HP:0000820HP:0031221Abnormal radioactive iodine uptake test result2MALT1 CL E G H1089252417ORPHA04226819604860
HP:0000820HP:0008229Thyroid lymphangiectasia2TWNK CL E G H56652609286Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3609286C1836439OMIM04501160606075
HP:0000820HP:0008247Euthyroid hyperthyroxinemia2TWNK CL E G H56652609286Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3609286C1836439OMIM04501160606075
HP:0000820HP:0100031Neoplasm of the thyroid gland2TWNK CL E G H56652609286Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3609286C1836439OMIM04501160606075
HP:0000820HP:0000821Hypothyroidism2TWNK CL E G H56652609286Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3609286C1836439OMIM04501160606075
HP:0000820HP:0008188Thyroid dysgenesis2TWNK CL E G H56652609286Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3609286C1836439OMIM04501160606075
HP:0000820HP:0008249Thyroid hyperplasia2TWNK CL E G H56652609286Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3609286C1836439OMIM04501160606075
HP:0000820HP:0100646Thyroiditis2TWNK CL E G H56652609286Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3609286C1836439OMIM04501160606075
HP:0000820HP:0008263Thyroid defect in oxidation and organification of iodide2TWNK CL E G H56652609286Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3609286C1836439OMIM04501160606075
HP:0000820HP:0010518Thyroglossal cyst2TWNK CL E G H56652609286Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3609286C1836439OMIM04501160606075
HP:0000820HP:0025388Thyroid nodule2TWNK CL E G H56652609286Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3609286C1836439OMIM04501160606075
HP:0000820HP:0031221Abnormal radioactive iodine uptake test result2TWNK CL E G H56652609286Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3609286C1836439OMIM04501160606075
HP:0000820HP:0011789Impaired sensitivity to thyroid stimulating hormone2TWNK CL E G H56652609286Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3609286C1836439OMIM04501160606075
HP:0000820HP:0031508Abnormal thyroid hormone level2TWNK CL E G H56652609286Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3609286C1836439OMIM04501160606075
HP:0000820HP:0033080Abnormal TSH response to thyrotrophin-releasing hormone stimulation test2TWNK CL E G H56652609286Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3609286C1836439OMIM04501160606075
HP:0000820HP:0000853Goiter2TWNK CL E G H56652609286Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3609286C1836439OMIM04501160606075
HP:0000820HP:0025482Positive perchlorate discharge test2TWNK CL E G H56652609286Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3609286C1836439OMIM04501160606075
HP:0000820HP:0000836Hyperthyroidism2TWNK CL E G H56652609286Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3609286C1836439OMIM04501160606075
HP:0000820HP:0033079Aplasia/Hypoplasia of the thyroid gland2TWNK CL E G H56652609286Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3609286C1836439OMIM04501160606075
HP:0000820HP:0002930Impaired sensitivity to thyroid hormone2TWNK CL E G H56652609286Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3609286C1836439OMIM04501160606075
HP:0000820HP:0033079Aplasia/Hypoplasia of the thyroid gland2VPS13A CL E G H232302388ORPHA023621908605978
HP:0000820HP:0002930Impaired sensitivity to thyroid hormone2VPS13A CL E G H232302388ORPHA023621908605978
HP:0000820HP:0031508Abnormal thyroid hormone level2VPS13A CL E G H232302388ORPHA023621908605978
HP:0000820HP:0033080Abnormal TSH response to thyrotrophin-releasing hormone stimulation test2VPS13A CL E G H232302388ORPHA023621908605978
HP:0000820HP:0000853Goiter2VPS13A CL E G H232302388ORPHA023621908605978
HP:0000820HP:0025482Positive perchlorate discharge test2VPS13A CL E G H232302388ORPHA023621908605978
HP:0000820HP:0000836Hyperthyroidism2VPS13A CL E G H232302388ORPHA023621908605978
HP:0000820HP:0008229Thyroid lymphangiectasia2VPS13A CL E G H232302388ORPHA023621908605978
HP:0000820HP:0008247Euthyroid hyperthyroxinemia2VPS13A CL E G H232302388ORPHA023621908605978
HP:0000820HP:0100031Neoplasm of the thyroid gland2VPS13A CL E G H232302388ORPHA023621908605978
HP:0000820HP:0000821Hypothyroidism2VPS13A CL E G H232302388ORPHA023621908605978
HP:0000820HP:0008188Thyroid dysgenesis2VPS13A CL E G H232302388ORPHA023621908605978
HP:0000820HP:0008249Thyroid hyperplasia2VPS13A CL E G H232302388ORPHA023621908605978
HP:0000820HP:0100646Thyroiditis2VPS13A CL E G H232302388ORPHA023621908605978
HP:0000820HP:0031221Abnormal radioactive iodine uptake test result2VPS13A CL E G H232302388ORPHA023621908605978
HP:0000820HP:0011789Impaired sensitivity to thyroid stimulating hormone2VPS13A CL E G H232302388ORPHA023621908605978
HP:0000820HP:0008263Thyroid defect in oxidation and organification of iodide2VPS13A CL E G H232302388ORPHA023621908605978
HP:0000820HP:0010518Thyroglossal cyst2VPS13A CL E G H232302388ORPHA023621908605978
HP:0000820HP:0025388Thyroid nodule2VPS13A CL E G H232302388ORPHA023621908605978
HP:0000820HP:0033076Abnormal circulating free T4 level3BCL10 CL E G H891552417ORPHA0116989603517
HP:0000820HP:0005994Nodular goiter3BCL10 CL E G H891552417ORPHA0116989603517
HP:0000820HP:0000854Thyroid adenoma3BCL10 CL E G H891552417ORPHA0116989603517
HP:0000820HP:0008225Thyroid follicular hyperplasia3BCL10 CL E G H891552417ORPHA0116989603517
HP:0000820HP:0011787Central hypothyroidism3BCL10 CL E G H891552417ORPHA0116989603517
HP:0000820HP:0100028Ectopic thyroid3BCL10 CL E G H891552417ORPHA0116989603517
HP:0000820HP:0031505Abnormal circulating T4 level3BCL10 CL E G H891552417ORPHA0116989603517
HP:0000820HP:0011784Thyrotoxicosis with diffuse goiter3BCL10 CL E G H891552417ORPHA0116989603517
HP:0000820HP:0011781Thyroid C cell hyperplasia3BCL10 CL E G H891552417ORPHA0116989603517
HP:0000820HP:0000872Hashimoto thyroiditis3BCL10 CL E G H891552417ORPHA0116989603517
HP:0000820HP:0000832Primary hypothyroidism3BCL10 CL E G H891552417ORPHA0116989603517
HP:0000820HP:0002890Thyroid carcinoma3BCL10 CL E G H891552417ORPHA0116989603517
HP:0000820HP:0031219Reduced radioactive iodine uptake3BCL10 CL E G H891552417ORPHA0116989603517
HP:0000820HP:0005990Thyroid hypoplasia3BCL10 CL E G H891552417ORPHA0116989603517
HP:0000820HP:0011791Inactivating thyroid-stimulating hormone receptor defect3BCL10 CL E G H891552417ORPHA0116989603517
HP:0000820HP:0033082Reduced TSH response to thyrotrophin-releasing hormone stimulation test3BCL10 CL E G H891552417ORPHA0116989603517
HP:0000820HP:0009798Euthyroid goiter3BCL10 CL E G H891552417ORPHA0116989603517
HP:0000820HP:0011783Thyrotoxicosis from ectopic thyroid tissue3BCL10 CL E G H891552417ORPHA0116989603517
HP:0000820HP:0012558Abnormal T3/T4 ratio3BCL10 CL E G H891552417ORPHA0116989603517
HP:0000820HP:0011786Thyrotoxicosis with toxic single thyroid nodule3BCL10 CL E G H891552417ORPHA0116989603517
HP:0000820HP:0000851Congenital hypothyroidism3BCL10 CL E G H891552417ORPHA0116989603517
HP:0000820HP:0031220Increased radioactive iodine uptake3BCL10 CL E G H891552417ORPHA0116989603517
HP:0000820HP:0011780Thyroid hemiagenesis3BCL10 CL E G H891552417ORPHA0116989603517
HP:0000820HP:0011790Activating thyroid-stimulating hormone receptor defect3BCL10 CL E G H891552417ORPHA0116989603517
HP:0000820HP:0008251Congenital goiter3BCL10 CL E G H891552417ORPHA0116989603517
HP:0000820HP:0011782Thyroid crisis3BCL10 CL E G H891552417ORPHA0116989603517
HP:0000820HP:0011785Thyrotoxicosis with toxic multinodular goiter3BCL10 CL E G H891552417ORPHA0116989603517
HP:0000820HP:0008223Compensated hypothyroidism3BCL10 CL E G H891552417ORPHA0116989603517
HP:0000820HP:0008191Thyroid agenesis3BCL10 CL E G H891552417ORPHA0116989603517
HP:0000820HP:0032209Abnormal circulating free T3 level3BCL10 CL E G H891552417ORPHA0116989603517
HP:0000820HP:0033081Absent TSH response to thyrotrophin-releasing hormone stimulation test3BCL10 CL E G H891552417ORPHA0116989603517
HP:0000820HP:0033076Abnormal circulating free T4 level3BIRC3 CL E G H33052417ORPHA051591601721
HP:0000820HP:0005994Nodular goiter3BIRC3 CL E G H33052417ORPHA051591601721
HP:0000820HP:0000854Thyroid adenoma3BIRC3 CL E G H33052417ORPHA051591601721
HP:0000820HP:0008225Thyroid follicular hyperplasia3BIRC3 CL E G H33052417ORPHA051591601721
HP:0000820HP:0011787Central hypothyroidism3BIRC3 CL E G H33052417ORPHA051591601721
HP:0000820HP:0000832Primary hypothyroidism3BIRC3 CL E G H33052417ORPHA051591601721
HP:0000820HP:0002890Thyroid carcinoma3BIRC3 CL E G H33052417ORPHA051591601721
HP:0000820HP:0031219Reduced radioactive iodine uptake3BIRC3 CL E G H33052417ORPHA051591601721
HP:0000820HP:0005990Thyroid hypoplasia3BIRC3 CL E G H33052417ORPHA051591601721
HP:0000820HP:0011791Inactivating thyroid-stimulating hormone receptor defect3BIRC3 CL E G H33052417ORPHA051591601721
HP:0000820HP:0100028Ectopic thyroid3BIRC3 CL E G H33052417ORPHA051591601721
HP:0000820HP:0031505Abnormal circulating T4 level3BIRC3 CL E G H33052417ORPHA051591601721
HP:0000820HP:0011784Thyrotoxicosis with diffuse goiter3BIRC3 CL E G H33052417ORPHA051591601721
HP:0000820HP:0011781Thyroid C cell hyperplasia3BIRC3 CL E G H33052417ORPHA051591601721
HP:0000820HP:0000872Hashimoto thyroiditis3BIRC3 CL E G H33052417ORPHA051591601721
HP:0000820HP:0031220Increased radioactive iodine uptake3BIRC3 CL E G H33052417ORPHA051591601721
HP:0000820HP:0011780Thyroid hemiagenesis3BIRC3 CL E G H33052417ORPHA051591601721
HP:0000820HP:0011790Activating thyroid-stimulating hormone receptor defect3BIRC3 CL E G H33052417ORPHA051591601721
HP:0000820HP:0033082Reduced TSH response to thyrotrophin-releasing hormone stimulation test3BIRC3 CL E G H33052417ORPHA051591601721
HP:0000820HP:0009798Euthyroid goiter3BIRC3 CL E G H33052417ORPHA051591601721
HP:0000820HP:0011783Thyrotoxicosis from ectopic thyroid tissue3BIRC3 CL E G H33052417ORPHA051591601721
HP:0000820HP:0012558Abnormal T3/T4 ratio3BIRC3 CL E G H33052417ORPHA051591601721
HP:0000820HP:0011786Thyrotoxicosis with toxic single thyroid nodule3BIRC3 CL E G H33052417ORPHA051591601721
HP:0000820HP:0000851Congenital hypothyroidism3BIRC3 CL E G H33052417ORPHA051591601721
HP:0000820HP:0008191Thyroid agenesis3BIRC3 CL E G H33052417ORPHA051591601721
HP:0000820HP:0032209Abnormal circulating free T3 level3BIRC3 CL E G H33052417ORPHA051591601721
HP:0000820HP:0033081Absent TSH response to thyrotrophin-releasing hormone stimulation test3BIRC3 CL E G H33052417ORPHA051591601721
HP:0000820HP:0008251Congenital goiter3BIRC3 CL E G H33052417ORPHA051591601721
HP:0000820HP:0011782Thyroid crisis3BIRC3 CL E G H33052417ORPHA051591601721
HP:0000820HP:0011785Thyrotoxicosis with toxic multinodular goiter3BIRC3 CL E G H33052417ORPHA051591601721
HP:0000820HP:0008223Compensated hypothyroidism3BIRC3 CL E G H33052417ORPHA051591601721
HP:0000820HP:0000854Thyroid adenoma3FOXP1 CL E G H2708652417ORPHA07003823605515
HP:0000820HP:0008225Thyroid follicular hyperplasia3FOXP1 CL E G H2708652417ORPHA07003823605515
HP:0000820HP:0033076Abnormal circulating free T4 level3FOXP1 CL E G H2708652417ORPHA07003823605515
HP:0000820HP:0005994Nodular goiter3FOXP1 CL E G H2708652417ORPHA07003823605515
HP:0000820HP:0011787Central hypothyroidism3FOXP1 CL E G H2708652417ORPHA07003823605515
HP:0000820HP:0011781Thyroid C cell hyperplasia3FOXP1 CL E G H2708652417ORPHA07003823605515
HP:0000820HP:0000872Hashimoto thyroiditis3FOXP1 CL E G H2708652417ORPHA07003823605515
HP:0000820HP:0002890Thyroid carcinoma3FOXP1 CL E G H2708652417ORPHA07003823605515
HP:0000820HP:0031219Reduced radioactive iodine uptake3FOXP1 CL E G H2708652417ORPHA07003823605515
HP:0000820HP:0005990Thyroid hypoplasia3FOXP1 CL E G H2708652417ORPHA07003823605515
HP:0000820HP:0100028Ectopic thyroid3FOXP1 CL E G H2708652417ORPHA07003823605515
HP:0000820HP:0031505Abnormal circulating T4 level3FOXP1 CL E G H2708652417ORPHA07003823605515
HP:0000820HP:0000832Primary hypothyroidism3FOXP1 CL E G H2708652417ORPHA07003823605515
HP:0000820HP:0011791Inactivating thyroid-stimulating hormone receptor defect3FOXP1 CL E G H2708652417ORPHA07003823605515
HP:0000820HP:0011784Thyrotoxicosis with diffuse goiter3FOXP1 CL E G H2708652417ORPHA07003823605515
HP:0000820HP:0012558Abnormal T3/T4 ratio3FOXP1 CL E G H2708652417ORPHA07003823605515
HP:0000820HP:0031220Increased radioactive iodine uptake3FOXP1 CL E G H2708652417ORPHA07003823605515
HP:0000820HP:0011780Thyroid hemiagenesis3FOXP1 CL E G H2708652417ORPHA07003823605515
HP:0000820HP:0009798Euthyroid goiter3FOXP1 CL E G H2708652417ORPHA07003823605515
HP:0000820HP:0011786Thyrotoxicosis with toxic single thyroid nodule3FOXP1 CL E G H2708652417ORPHA07003823605515
HP:0000820HP:0000851Congenital hypothyroidism3FOXP1 CL E G H2708652417ORPHA07003823605515
HP:0000820HP:0011790Activating thyroid-stimulating hormone receptor defect3FOXP1 CL E G H2708652417ORPHA07003823605515
HP:0000820HP:0033082Reduced TSH response to thyrotrophin-releasing hormone stimulation test3FOXP1 CL E G H2708652417ORPHA07003823605515
HP:0000820HP:0011783Thyrotoxicosis from ectopic thyroid tissue3FOXP1 CL E G H2708652417ORPHA07003823605515
HP:0000820HP:0008191Thyroid agenesis3FOXP1 CL E G H2708652417ORPHA07003823605515
HP:0000820HP:0032209Abnormal circulating free T3 level3FOXP1 CL E G H2708652417ORPHA07003823605515
HP:0000820HP:0033081Absent TSH response to thyrotrophin-releasing hormone stimulation test3FOXP1 CL E G H2708652417ORPHA07003823605515
HP:0000820HP:0008251Congenital goiter3FOXP1 CL E G H2708652417ORPHA07003823605515
HP:0000820HP:0011785Thyrotoxicosis with toxic multinodular goiter3FOXP1 CL E G H2708652417ORPHA07003823605515
HP:0000820HP:0008223Compensated hypothyroidism3FOXP1 CL E G H2708652417ORPHA07003823605515
HP:0000820HP:0011782Thyroid crisis3FOXP1 CL E G H2708652417ORPHA07003823605515
HP:0000820HP:0033076Abnormal circulating free T4 level3IGH CL E G H349252417ORPHA01795477146910
HP:0000820HP:0005994Nodular goiter3IGH CL E G H349252417ORPHA01795477146910
HP:0000820HP:0000854Thyroid adenoma3IGH CL E G H349252417ORPHA01795477146910
HP:0000820HP:0008225Thyroid follicular hyperplasia3IGH CL E G H349252417ORPHA01795477146910
HP:0000820HP:0011787Central hypothyroidism3IGH CL E G H349252417ORPHA01795477146910
HP:0000820HP:0100028Ectopic thyroid3IGH CL E G H349252417ORPHA01795477146910
HP:0000820HP:0031505Abnormal circulating T4 level3IGH CL E G H349252417ORPHA01795477146910
HP:0000820HP:0011784Thyrotoxicosis with diffuse goiter3IGH CL E G H349252417ORPHA01795477146910
HP:0000820HP:0011781Thyroid C cell hyperplasia3IGH CL E G H349252417ORPHA01795477146910
HP:0000820HP:0000872Hashimoto thyroiditis3IGH CL E G H349252417ORPHA01795477146910
HP:0000820HP:0000832Primary hypothyroidism3IGH CL E G H349252417ORPHA01795477146910
HP:0000820HP:0002890Thyroid carcinoma3IGH CL E G H349252417ORPHA01795477146910
HP:0000820HP:0031219Reduced radioactive iodine uptake3IGH CL E G H349252417ORPHA01795477146910
HP:0000820HP:0005990Thyroid hypoplasia3IGH CL E G H349252417ORPHA01795477146910
HP:0000820HP:0011791Inactivating thyroid-stimulating hormone receptor defect3IGH CL E G H349252417ORPHA01795477146910
HP:0000820HP:0011783Thyrotoxicosis from ectopic thyroid tissue3IGH CL E G H349252417ORPHA01795477146910
HP:0000820HP:0012558Abnormal T3/T4 ratio3IGH CL E G H349252417ORPHA01795477146910
HP:0000820HP:0011786Thyrotoxicosis with toxic single thyroid nodule3IGH CL E G H349252417ORPHA01795477146910
HP:0000820HP:0000851Congenital hypothyroidism3IGH CL E G H349252417ORPHA01795477146910
HP:0000820HP:0031220Increased radioactive iodine uptake3IGH CL E G H349252417ORPHA01795477146910
HP:0000820HP:0011780Thyroid hemiagenesis3IGH CL E G H349252417ORPHA01795477146910
HP:0000820HP:0011790Activating thyroid-stimulating hormone receptor defect3IGH CL E G H349252417ORPHA01795477146910
HP:0000820HP:0033082Reduced TSH response to thyrotrophin-releasing hormone stimulation test3IGH CL E G H349252417ORPHA01795477146910
HP:0000820HP:0009798Euthyroid goiter3IGH CL E G H349252417ORPHA01795477146910
HP:0000820HP:0011782Thyroid crisis3IGH CL E G H349252417ORPHA01795477146910
HP:0000820HP:0011785Thyrotoxicosis with toxic multinodular goiter3IGH CL E G H349252417ORPHA01795477146910
HP:0000820HP:0008223Compensated hypothyroidism3IGH CL E G H349252417ORPHA01795477146910
HP:0000820HP:0008191Thyroid agenesis3IGH CL E G H349252417ORPHA01795477146910
HP:0000820HP:0032209Abnormal circulating free T3 level3IGH CL E G H349252417ORPHA01795477146910
HP:0000820HP:0033081Absent TSH response to thyrotrophin-releasing hormone stimulation test3IGH CL E G H349252417ORPHA01795477146910
HP:0000820HP:0008251Congenital goiter3IGH CL E G H349252417ORPHA01795477146910
HP:0000820HP:0033076Abnormal circulating free T4 level3MALT1 CL E G H1089252417ORPHA04226819604860
HP:0000820HP:0005994Nodular goiter3MALT1 CL E G H1089252417ORPHA04226819604860
HP:0000820HP:0000854Thyroid adenoma3MALT1 CL E G H1089252417ORPHA04226819604860
HP:0000820HP:0008225Thyroid follicular hyperplasia3MALT1 CL E G H1089252417ORPHA04226819604860
HP:0000820HP:0011787Central hypothyroidism3MALT1 CL E G H1089252417ORPHA04226819604860
HP:0000820HP:0031219Reduced radioactive iodine uptake3MALT1 CL E G H1089252417ORPHA04226819604860
HP:0000820HP:0005990Thyroid hypoplasia3MALT1 CL E G H1089252417ORPHA04226819604860
HP:0000820HP:0011791Inactivating thyroid-stimulating hormone receptor defect3MALT1 CL E G H1089252417ORPHA04226819604860
HP:0000820HP:0100028Ectopic thyroid3MALT1 CL E G H1089252417ORPHA04226819604860
HP:0000820HP:0031505Abnormal circulating T4 level3MALT1 CL E G H1089252417ORPHA04226819604860
HP:0000820HP:0011784Thyrotoxicosis with diffuse goiter3MALT1 CL E G H1089252417ORPHA04226819604860
HP:0000820HP:0011781Thyroid C cell hyperplasia3MALT1 CL E G H1089252417ORPHA04226819604860
HP:0000820HP:0000872Hashimoto thyroiditis3MALT1 CL E G H1089252417ORPHA04226819604860
HP:0000820HP:0000832Primary hypothyroidism3MALT1 CL E G H1089252417ORPHA04226819604860
HP:0000820HP:0002890Thyroid carcinoma3MALT1 CL E G H1089252417ORPHA04226819604860
HP:0000820HP:0031220Increased radioactive iodine uptake3MALT1 CL E G H1089252417ORPHA04226819604860
HP:0000820HP:0011780Thyroid hemiagenesis3MALT1 CL E G H1089252417ORPHA04226819604860
HP:0000820HP:0011790Activating thyroid-stimulating hormone receptor defect3MALT1 CL E G H1089252417ORPHA04226819604860
HP:0000820HP:0033082Reduced TSH response to thyrotrophin-releasing hormone stimulation test3MALT1 CL E G H1089252417ORPHA04226819604860
HP:0000820HP:0009798Euthyroid goiter3MALT1 CL E G H1089252417ORPHA04226819604860
HP:0000820HP:0011783Thyrotoxicosis from ectopic thyroid tissue3MALT1 CL E G H1089252417ORPHA04226819604860
HP:0000820HP:0012558Abnormal T3/T4 ratio3MALT1 CL E G H1089252417ORPHA04226819604860
HP:0000820HP:0011786Thyrotoxicosis with toxic single thyroid nodule3MALT1 CL E G H1089252417ORPHA04226819604860
HP:0000820HP:0000851Congenital hypothyroidism3MALT1 CL E G H1089252417ORPHA04226819604860
HP:0000820HP:0008191Thyroid agenesis3MALT1 CL E G H1089252417ORPHA04226819604860
HP:0000820HP:0032209Abnormal circulating free T3 level3MALT1 CL E G H1089252417ORPHA04226819604860
HP:0000820HP:0033081Absent TSH response to thyrotrophin-releasing hormone stimulation test3MALT1 CL E G H1089252417ORPHA04226819604860
HP:0000820HP:0008251Congenital goiter3MALT1 CL E G H1089252417ORPHA04226819604860
HP:0000820HP:0011782Thyroid crisis3MALT1 CL E G H1089252417ORPHA04226819604860
HP:0000820HP:0011785Thyrotoxicosis with toxic multinodular goiter3MALT1 CL E G H1089252417ORPHA04226819604860
HP:0000820HP:0008223Compensated hypothyroidism3MALT1 CL E G H1089252417ORPHA04226819604860
HP:0000820HP:0031219Reduced radioactive iodine uptake3TWNK CL E G H56652609286Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3609286C1836439OMIM04501160606075
HP:0000820HP:0005990Thyroid hypoplasia3TWNK CL E G H56652609286Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3609286C1836439OMIM04501160606075
HP:0000820HP:0011791Inactivating thyroid-stimulating hormone receptor defect3TWNK CL E G H56652609286Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3609286C1836439OMIM04501160606075
HP:0000820HP:0100028Ectopic thyroid3TWNK CL E G H56652609286Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3609286C1836439OMIM04501160606075
HP:0000820HP:0031505Abnormal circulating T4 level3TWNK CL E G H56652609286Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3609286C1836439OMIM04501160606075
HP:0000820HP:0011784Thyrotoxicosis with diffuse goiter3TWNK CL E G H56652609286Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3609286C1836439OMIM04501160606075
HP:0000820HP:0011781Thyroid C cell hyperplasia3TWNK CL E G H56652609286Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3609286C1836439OMIM04501160606075
HP:0000820HP:0000872Hashimoto thyroiditis3TWNK CL E G H56652609286Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3609286C1836439OMIM04501160606075
HP:0000820HP:0000832Primary hypothyroidism3TWNK CL E G H56652609286Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3609286C1836439OMIM04501160606075
HP:0000820HP:0002890Thyroid carcinoma3TWNK CL E G H56652609286Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3609286C1836439OMIM04501160606075
HP:0000820HP:0011780Thyroid hemiagenesis3TWNK CL E G H56652609286Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3609286C1836439OMIM04501160606075
HP:0000820HP:0011790Activating thyroid-stimulating hormone receptor defect3TWNK CL E G H56652609286Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3609286C1836439OMIM04501160606075
HP:0000820HP:0033082Reduced TSH response to thyrotrophin-releasing hormone stimulation test3TWNK CL E G H56652609286Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3609286C1836439OMIM04501160606075
HP:0000820HP:0009798Euthyroid goiter3TWNK CL E G H56652609286Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3609286C1836439OMIM04501160606075
HP:0000820HP:0011783Thyrotoxicosis from ectopic thyroid tissue3TWNK CL E G H56652609286Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3609286C1836439OMIM04501160606075
HP:0000820HP:0012558Abnormal T3/T4 ratio3TWNK CL E G H56652609286Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3609286C1836439OMIM04501160606075
HP:0000820HP:0011786Thyrotoxicosis with toxic single thyroid nodule3TWNK CL E G H56652609286Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3609286C1836439OMIM04501160606075
HP:0000820HP:0000851Congenital hypothyroidism3TWNK CL E G H56652609286Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3609286C1836439OMIM04501160606075
HP:0000820HP:0031220Increased radioactive iodine uptake3TWNK CL E G H56652609286Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3609286C1836439OMIM04501160606075
HP:0000820HP:0032209Abnormal circulating free T3 level3TWNK CL E G H56652609286Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3609286C1836439OMIM04501160606075
HP:0000820HP:0033081Absent TSH response to thyrotrophin-releasing hormone stimulation test3TWNK CL E G H56652609286Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3609286C1836439OMIM04501160606075
HP:0000820HP:0008251Congenital goiter3TWNK CL E G H56652609286Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3609286C1836439OMIM04501160606075
HP:0000820HP:0011782Thyroid crisis3TWNK CL E G H56652609286Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3609286C1836439OMIM04501160606075
HP:0000820HP:0011785Thyrotoxicosis with toxic multinodular goiter3TWNK CL E G H56652609286Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3609286C1836439OMIM04501160606075
HP:0000820HP:0008223Compensated hypothyroidism3TWNK CL E G H56652609286Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3609286C1836439OMIM04501160606075
HP:0000820HP:0008191Thyroid agenesis3TWNK CL E G H56652609286Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3609286C1836439OMIM04501160606075
HP:0000820HP:0033076Abnormal circulating free T4 level3TWNK CL E G H56652609286Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3609286C1836439OMIM04501160606075
HP:0000820HP:0005994Nodular goiter3TWNK CL E G H56652609286Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3609286C1836439OMIM04501160606075
HP:0000820HP:0000854Thyroid adenoma3TWNK CL E G H56652609286Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3609286C1836439OMIM04501160606075
HP:0000820HP:0008225Thyroid follicular hyperplasia3TWNK CL E G H56652609286Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3609286C1836439OMIM04501160606075
HP:0000820HP:0011787Central hypothyroidism3TWNK CL E G H56652609286Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3609286C1836439OMIM04501160606075
HP:0000820HP:0033076Abnormal circulating free T4 level3VPS13A CL E G H232302388ORPHA023621908605978
HP:0000820HP:0005994Nodular goiter3VPS13A CL E G H232302388ORPHA023621908605978
HP:0000820HP:0000854Thyroid adenoma3VPS13A CL E G H232302388ORPHA023621908605978
HP:0000820HP:0008225Thyroid follicular hyperplasia3VPS13A CL E G H232302388ORPHA023621908605978
HP:0000820HP:0011787Central hypothyroidism3VPS13A CL E G H232302388ORPHA023621908605978
HP:0000820HP:0000872Hashimoto thyroiditis3VPS13A CL E G H232302388ORPHA023621908605978
HP:0000820HP:0000832Primary hypothyroidism3VPS13A CL E G H232302388ORPHA023621908605978
HP:0000820HP:0002890Thyroid carcinoma3VPS13A CL E G H232302388ORPHA023621908605978
HP:0000820HP:0031219Reduced radioactive iodine uptake3VPS13A CL E G H232302388ORPHA023621908605978
HP:0000820HP:0005990Thyroid hypoplasia3VPS13A CL E G H232302388ORPHA023621908605978
HP:0000820HP:0011791Inactivating thyroid-stimulating hormone receptor defect3VPS13A CL E G H232302388ORPHA023621908605978
HP:0000820HP:0100028Ectopic thyroid3VPS13A CL E G H232302388ORPHA023621908605978
HP:0000820HP:0031505Abnormal circulating T4 level3VPS13A CL E G H232302388ORPHA023621908605978
HP:0000820HP:0011784Thyrotoxicosis with diffuse goiter3VPS13A CL E G H232302388ORPHA023621908605978
HP:0000820HP:0011781Thyroid C cell hyperplasia3VPS13A CL E G H232302388ORPHA023621908605978
HP:0000820HP:0000851Congenital hypothyroidism3VPS13A CL E G H232302388ORPHA023621908605978
HP:0000820HP:0031220Increased radioactive iodine uptake3VPS13A CL E G H232302388ORPHA023621908605978
HP:0000820HP:0011780Thyroid hemiagenesis3VPS13A CL E G H232302388ORPHA023621908605978
HP:0000820HP:0011790Activating thyroid-stimulating hormone receptor defect3VPS13A CL E G H232302388ORPHA023621908605978
HP:0000820HP:0033082Reduced TSH response to thyrotrophin-releasing hormone stimulation test3VPS13A CL E G H232302388ORPHA023621908605978
HP:0000820HP:0009798Euthyroid goiter3VPS13A CL E G H232302388ORPHA023621908605978
HP:0000820HP:0011783Thyrotoxicosis from ectopic thyroid tissue3VPS13A CL E G H232302388ORPHA023621908605978
HP:0000820HP:0012558Abnormal T3/T4 ratio3VPS13A CL E G H232302388ORPHA023621908605978
HP:0000820HP:0011786Thyrotoxicosis with toxic single thyroid nodule3VPS13A CL E G H232302388ORPHA023621908605978
HP:0000820HP:0008223Compensated hypothyroidism3VPS13A CL E G H232302388ORPHA023621908605978
HP:0000820HP:0008191Thyroid agenesis3VPS13A CL E G H232302388ORPHA023621908605978
HP:0000820HP:0032209Abnormal circulating free T3 level3VPS13A CL E G H232302388ORPHA023621908605978
HP:0000820HP:0033081Absent TSH response to thyrotrophin-releasing hormone stimulation test3VPS13A CL E G H232302388ORPHA023621908605978
HP:0000820HP:0008251Congenital goiter3VPS13A CL E G H232302388ORPHA023621908605978
HP:0000820HP:0011782Thyroid crisis3VPS13A CL E G H232302388ORPHA023621908605978
HP:0000820HP:0011785Thyrotoxicosis with toxic multinodular goiter3VPS13A CL E G H232302388ORPHA023621908605978
HP:0000820HP:0002895Papillary thyroid carcinoma4BCL10 CL E G H891552417ORPHA0116989603517
HP:0000820HP:0100030Accessory ectopic thyroid tissue4BCL10 CL E G H891552417ORPHA0116989603517
HP:0000820HP:0031507Decreased circulating T4 level4BCL10 CL E G H891552417ORPHA0116989603517
HP:0000820HP:0100647Graves disease4BCL10 CL E G H891552417ORPHA0116989603517
HP:0000820HP:0012559Increased T3/T4 ratio4BCL10 CL E G H891552417ORPHA0116989603517
HP:0000820HP:0011779Anaplastic thyroid carcinoma4BCL10 CL E G H891552417ORPHA0116989603517
HP:0000820HP:0011788Increased circulating free T34BCL10 CL E G H891552417ORPHA0116989603517
HP:0000820HP:0000866Euthyroid multinodular goiter4BCL10 CL E G H891552417ORPHA0116989603517
HP:0000820HP:0012560Decreased T3/T4 ratio4BCL10 CL E G H891552417ORPHA0116989603517
HP:0000820HP:0011774Thyroid follicular adenoma4BCL10 CL E G H891552417ORPHA0116989603517
HP:0000820HP:0040198Non-medullary thyroid carcinoma4BCL10 CL E G H891552417ORPHA0116989603517
HP:0000820HP:0032210Decreased circulating free T34BCL10 CL E G H891552417ORPHA0116989603517
HP:0000820HP:0033077Increased circulating free T4 level4BCL10 CL E G H891552417ORPHA0116989603517
HP:0000820HP:0011773Uninodular goiter4BCL10 CL E G H891552417ORPHA0116989603517
HP:0000820HP:0011778Thyroid atypical adenoma4BCL10 CL E G H891552417ORPHA0116989603517
HP:0000820HP:0008245Pituitary hypothyroidism4BCL10 CL E G H891552417ORPHA0116989603517
HP:0000820HP:0011777Thyroid papillary adenoma4BCL10 CL E G H891552417ORPHA0116989603517
HP:0000820HP:0002865Medullary thyroid carcinoma4BCL10 CL E G H891552417ORPHA0116989603517
HP:0000820HP:0033078Decreased circulating free T4 level4BCL10 CL E G H891552417ORPHA0116989603517
HP:0000820HP:0005987Multinodular goiter4BCL10 CL E G H891552417ORPHA0116989603517
HP:0000820HP:0100029Lingual thyroid4BCL10 CL E G H891552417ORPHA0116989603517
HP:0000820HP:0031506Increased circulating T4 level4BCL10 CL E G H891552417ORPHA0116989603517
HP:0000820HP:0006781Hurthle cell thyroid adenoma4BCL10 CL E G H891552417ORPHA0116989603517
HP:0000820HP:0008237Hypothalamic hypothyroidism4BCL10 CL E G H891552417ORPHA0116989603517
HP:0000820HP:0006731Follicular thyroid carcinoma4BCL10 CL E G H891552417ORPHA0116989603517
HP:0000820HP:0011779Anaplastic thyroid carcinoma4BIRC3 CL E G H33052417ORPHA051591601721
HP:0000820HP:0002895Papillary thyroid carcinoma4BIRC3 CL E G H33052417ORPHA051591601721
HP:0000820HP:0100030Accessory ectopic thyroid tissue4BIRC3 CL E G H33052417ORPHA051591601721
HP:0000820HP:0031507Decreased circulating T4 level4BIRC3 CL E G H33052417ORPHA051591601721
HP:0000820HP:0100647Graves disease4BIRC3 CL E G H33052417ORPHA051591601721
HP:0000820HP:0012559Increased T3/T4 ratio4BIRC3 CL E G H33052417ORPHA051591601721
HP:0000820HP:0040198Non-medullary thyroid carcinoma4BIRC3 CL E G H33052417ORPHA051591601721
HP:0000820HP:0011788Increased circulating free T34BIRC3 CL E G H33052417ORPHA051591601721
HP:0000820HP:0000866Euthyroid multinodular goiter4BIRC3 CL E G H33052417ORPHA051591601721
HP:0000820HP:0012560Decreased T3/T4 ratio4BIRC3 CL E G H33052417ORPHA051591601721
HP:0000820HP:0011774Thyroid follicular adenoma4BIRC3 CL E G H33052417ORPHA051591601721
HP:0000820HP:0011777Thyroid papillary adenoma4BIRC3 CL E G H33052417ORPHA051591601721
HP:0000820HP:0002865Medullary thyroid carcinoma4BIRC3 CL E G H33052417ORPHA051591601721
HP:0000820HP:0032210Decreased circulating free T34BIRC3 CL E G H33052417ORPHA051591601721
HP:0000820HP:0033077Increased circulating free T4 level4BIRC3 CL E G H33052417ORPHA051591601721
HP:0000820HP:0011773Uninodular goiter4BIRC3 CL E G H33052417ORPHA051591601721
HP:0000820HP:0011778Thyroid atypical adenoma4BIRC3 CL E G H33052417ORPHA051591601721
HP:0000820HP:0008245Pituitary hypothyroidism4BIRC3 CL E G H33052417ORPHA051591601721
HP:0000820HP:0006731Follicular thyroid carcinoma4BIRC3 CL E G H33052417ORPHA051591601721
HP:0000820HP:0033078Decreased circulating free T4 level4BIRC3 CL E G H33052417ORPHA051591601721
HP:0000820HP:0005987Multinodular goiter4BIRC3 CL E G H33052417ORPHA051591601721
HP:0000820HP:0100029Lingual thyroid4BIRC3 CL E G H33052417ORPHA051591601721
HP:0000820HP:0031506Increased circulating T4 level4BIRC3 CL E G H33052417ORPHA051591601721
HP:0000820HP:0006781Hurthle cell thyroid adenoma4BIRC3 CL E G H33052417ORPHA051591601721
HP:0000820HP:0008237Hypothalamic hypothyroidism4BIRC3 CL E G H33052417ORPHA051591601721
HP:0000820HP:0012559Increased T3/T4 ratio4FOXP1 CL E G H2708652417ORPHA07003823605515
HP:0000820HP:0011779Anaplastic thyroid carcinoma4FOXP1 CL E G H2708652417ORPHA07003823605515
HP:0000820HP:0002895Papillary thyroid carcinoma4FOXP1 CL E G H2708652417ORPHA07003823605515
HP:0000820HP:0100030Accessory ectopic thyroid tissue4FOXP1 CL E G H2708652417ORPHA07003823605515
HP:0000820HP:0031507Decreased circulating T4 level4FOXP1 CL E G H2708652417ORPHA07003823605515
HP:0000820HP:0100647Graves disease4FOXP1 CL E G H2708652417ORPHA07003823605515
HP:0000820HP:0012560Decreased T3/T4 ratio4FOXP1 CL E G H2708652417ORPHA07003823605515
HP:0000820HP:0011774Thyroid follicular adenoma4FOXP1 CL E G H2708652417ORPHA07003823605515
HP:0000820HP:0040198Non-medullary thyroid carcinoma4FOXP1 CL E G H2708652417ORPHA07003823605515
HP:0000820HP:0011788Increased circulating free T34FOXP1 CL E G H2708652417ORPHA07003823605515
HP:0000820HP:0000866Euthyroid multinodular goiter4FOXP1 CL E G H2708652417ORPHA07003823605515
HP:0000820HP:0011778Thyroid atypical adenoma4FOXP1 CL E G H2708652417ORPHA07003823605515
HP:0000820HP:0008245Pituitary hypothyroidism4FOXP1 CL E G H2708652417ORPHA07003823605515
HP:0000820HP:0011777Thyroid papillary adenoma4FOXP1 CL E G H2708652417ORPHA07003823605515
HP:0000820HP:0002865Medullary thyroid carcinoma4FOXP1 CL E G H2708652417ORPHA07003823605515
HP:0000820HP:0032210Decreased circulating free T34FOXP1 CL E G H2708652417ORPHA07003823605515
HP:0000820HP:0033077Increased circulating free T4 level4FOXP1 CL E G H2708652417ORPHA07003823605515
HP:0000820HP:0011773Uninodular goiter4FOXP1 CL E G H2708652417ORPHA07003823605515
HP:0000820HP:0006781Hurthle cell thyroid adenoma4FOXP1 CL E G H2708652417ORPHA07003823605515
HP:0000820HP:0008237Hypothalamic hypothyroidism4FOXP1 CL E G H2708652417ORPHA07003823605515
HP:0000820HP:0006731Follicular thyroid carcinoma4FOXP1 CL E G H2708652417ORPHA07003823605515
HP:0000820HP:0033078Decreased circulating free T4 level4FOXP1 CL E G H2708652417ORPHA07003823605515
HP:0000820HP:0005987Multinodular goiter4FOXP1 CL E G H2708652417ORPHA07003823605515
HP:0000820HP:0100029Lingual thyroid4FOXP1 CL E G H2708652417ORPHA07003823605515
HP:0000820HP:0031506Increased circulating T4 level4FOXP1 CL E G H2708652417ORPHA07003823605515
HP:0000820HP:0100030Accessory ectopic thyroid tissue4IGH CL E G H349252417ORPHA01795477146910
HP:0000820HP:0031507Decreased circulating T4 level4IGH CL E G H349252417ORPHA01795477146910
HP:0000820HP:0100647Graves disease4IGH CL E G H349252417ORPHA01795477146910
HP:0000820HP:0012559Increased T3/T4 ratio4IGH CL E G H349252417ORPHA01795477146910
HP:0000820HP:0011779Anaplastic thyroid carcinoma4IGH CL E G H349252417ORPHA01795477146910
HP:0000820HP:0002895Papillary thyroid carcinoma4IGH CL E G H349252417ORPHA01795477146910
HP:0000820HP:0000866Euthyroid multinodular goiter4IGH CL E G H349252417ORPHA01795477146910
HP:0000820HP:0012560Decreased T3/T4 ratio4IGH CL E G H349252417ORPHA01795477146910
HP:0000820HP:0011774Thyroid follicular adenoma4IGH CL E G H349252417ORPHA01795477146910
HP:0000820HP:0040198Non-medullary thyroid carcinoma4IGH CL E G H349252417ORPHA01795477146910
HP:0000820HP:0011788Increased circulating free T34IGH CL E G H349252417ORPHA01795477146910
HP:0000820HP:0033077Increased circulating free T4 level4IGH CL E G H349252417ORPHA01795477146910
HP:0000820HP:0011773Uninodular goiter4IGH CL E G H349252417ORPHA01795477146910
HP:0000820HP:0011778Thyroid atypical adenoma4IGH CL E G H349252417ORPHA01795477146910
HP:0000820HP:0008245Pituitary hypothyroidism4IGH CL E G H349252417ORPHA01795477146910
HP:0000820HP:0011777Thyroid papillary adenoma4IGH CL E G H349252417ORPHA01795477146910
HP:0000820HP:0002865Medullary thyroid carcinoma4IGH CL E G H349252417ORPHA01795477146910
HP:0000820HP:0032210Decreased circulating free T34IGH CL E G H349252417ORPHA01795477146910
HP:0000820HP:0033078Decreased circulating free T4 level4IGH CL E G H349252417ORPHA01795477146910
HP:0000820HP:0005987Multinodular goiter4IGH CL E G H349252417ORPHA01795477146910
HP:0000820HP:0100029Lingual thyroid4IGH CL E G H349252417ORPHA01795477146910
HP:0000820HP:0031506Increased circulating T4 level4IGH CL E G H349252417ORPHA01795477146910
HP:0000820HP:0006781Hurthle cell thyroid adenoma4IGH CL E G H349252417ORPHA01795477146910
HP:0000820HP:0008237Hypothalamic hypothyroidism4IGH CL E G H349252417ORPHA01795477146910
HP:0000820HP:0006731Follicular thyroid carcinoma4IGH CL E G H349252417ORPHA01795477146910
HP:0000820HP:0011779Anaplastic thyroid carcinoma4MALT1 CL E G H1089252417ORPHA04226819604860
HP:0000820HP:0002895Papillary thyroid carcinoma4MALT1 CL E G H1089252417ORPHA04226819604860
HP:0000820HP:0100030Accessory ectopic thyroid tissue4MALT1 CL E G H1089252417ORPHA04226819604860
HP:0000820HP:0031507Decreased circulating T4 level4MALT1 CL E G H1089252417ORPHA04226819604860
HP:0000820HP:0100647Graves disease4MALT1 CL E G H1089252417ORPHA04226819604860
HP:0000820HP:0012559Increased T3/T4 ratio4MALT1 CL E G H1089252417ORPHA04226819604860
HP:0000820HP:0040198Non-medullary thyroid carcinoma4MALT1 CL E G H1089252417ORPHA04226819604860
HP:0000820HP:0011788Increased circulating free T34MALT1 CL E G H1089252417ORPHA04226819604860
HP:0000820HP:0000866Euthyroid multinodular goiter4MALT1 CL E G H1089252417ORPHA04226819604860
HP:0000820HP:0012560Decreased T3/T4 ratio4MALT1 CL E G H1089252417ORPHA04226819604860
HP:0000820HP:0011774Thyroid follicular adenoma4MALT1 CL E G H1089252417ORPHA04226819604860
HP:0000820HP:0002865Medullary thyroid carcinoma4MALT1 CL E G H1089252417ORPHA04226819604860
HP:0000820HP:0032210Decreased circulating free T34MALT1 CL E G H1089252417ORPHA04226819604860
HP:0000820HP:0033077Increased circulating free T4 level4MALT1 CL E G H1089252417ORPHA04226819604860
HP:0000820HP:0011773Uninodular goiter4MALT1 CL E G H1089252417ORPHA04226819604860
HP:0000820HP:0011778Thyroid atypical adenoma4MALT1 CL E G H1089252417ORPHA04226819604860
HP:0000820HP:0008245Pituitary hypothyroidism4MALT1 CL E G H1089252417ORPHA04226819604860
HP:0000820HP:0011777Thyroid papillary adenoma4MALT1 CL E G H1089252417ORPHA04226819604860
HP:0000820HP:0006731Follicular thyroid carcinoma4MALT1 CL E G H1089252417ORPHA04226819604860
HP:0000820HP:0033078Decreased circulating free T4 level4MALT1 CL E G H1089252417ORPHA04226819604860
HP:0000820HP:0005987Multinodular goiter4MALT1 CL E G H1089252417ORPHA04226819604860
HP:0000820HP:0100029Lingual thyroid4MALT1 CL E G H1089252417ORPHA04226819604860
HP:0000820HP:0031506Increased circulating T4 level4MALT1 CL E G H1089252417ORPHA04226819604860
HP:0000820HP:0006781Hurthle cell thyroid adenoma4MALT1 CL E G H1089252417ORPHA04226819604860
HP:0000820HP:0008237Hypothalamic hypothyroidism4MALT1 CL E G H1089252417ORPHA04226819604860
HP:0000820HP:0040198Non-medullary thyroid carcinoma4TWNK CL E G H56652609286Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3609286C1836439OMIM04501160606075
HP:0000820HP:0011788Increased circulating free T34TWNK CL E G H56652609286Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3609286C1836439OMIM04501160606075
HP:0000820HP:0000866Euthyroid multinodular goiter4TWNK CL E G H56652609286Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3609286C1836439OMIM04501160606075
HP:0000820HP:0012560Decreased T3/T4 ratio4TWNK CL E G H56652609286Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3609286C1836439OMIM04501160606075
HP:0000820HP:0011774Thyroid follicular adenoma4TWNK CL E G H56652609286Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3609286C1836439OMIM04501160606075
HP:0000820HP:0002865Medullary thyroid carcinoma4TWNK CL E G H56652609286Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3609286C1836439OMIM04501160606075
HP:0000820HP:0032210Decreased circulating free T34TWNK CL E G H56652609286Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3609286C1836439OMIM04501160606075
HP:0000820HP:0033077Increased circulating free T4 level4TWNK CL E G H56652609286Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3609286C1836439OMIM04501160606075
HP:0000820HP:0011773Uninodular goiter4TWNK CL E G H56652609286Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3609286C1836439OMIM04501160606075
HP:0000820HP:0011778Thyroid atypical adenoma4TWNK CL E G H56652609286Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3609286C1836439OMIM04501160606075
HP:0000820HP:0008245Pituitary hypothyroidism4TWNK CL E G H56652609286Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3609286C1836439OMIM04501160606075
HP:0000820HP:0011777Thyroid papillary adenoma4TWNK CL E G H56652609286Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3609286C1836439OMIM04501160606075
HP:0000820HP:0006731Follicular thyroid carcinoma4TWNK CL E G H56652609286Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3609286C1836439OMIM04501160606075
HP:0000820HP:0033078Decreased circulating free T4 level4TWNK CL E G H56652609286Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3609286C1836439OMIM04501160606075
HP:0000820HP:0005987Multinodular goiter4TWNK CL E G H56652609286Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3609286C1836439OMIM04501160606075
HP:0000820HP:0100029Lingual thyroid4TWNK CL E G H56652609286Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3609286C1836439OMIM04501160606075
HP:0000820HP:0031506Increased circulating T4 level4TWNK CL E G H56652609286Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3609286C1836439OMIM04501160606075
HP:0000820HP:0006781Hurthle cell thyroid adenoma4TWNK CL E G H56652609286Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3609286C1836439OMIM04501160606075
HP:0000820HP:0008237Hypothalamic hypothyroidism4TWNK CL E G H56652609286Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3609286C1836439OMIM04501160606075
HP:0000820HP:0002895Papillary thyroid carcinoma4TWNK CL E G H56652609286Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3609286C1836439OMIM04501160606075
HP:0000820HP:0100030Accessory ectopic thyroid tissue4TWNK CL E G H56652609286Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3609286C1836439OMIM04501160606075
HP:0000820HP:0031507Decreased circulating T4 level4TWNK CL E G H56652609286Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3609286C1836439OMIM04501160606075
HP:0000820HP:0100647Graves disease4TWNK CL E G H56652609286Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3609286C1836439OMIM04501160606075
HP:0000820HP:0012559Increased T3/T4 ratio4TWNK CL E G H56652609286Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3609286C1836439OMIM04501160606075
HP:0000820HP:0011779Anaplastic thyroid carcinoma4TWNK CL E G H56652609286Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3609286C1836439OMIM04501160606075
HP:0000820HP:0011779Anaplastic thyroid carcinoma4VPS13A CL E G H232302388ORPHA023621908605978
HP:0000820HP:0002895Papillary thyroid carcinoma4VPS13A CL E G H232302388ORPHA023621908605978
HP:0000820HP:0100030Accessory ectopic thyroid tissue4VPS13A CL E G H232302388ORPHA023621908605978
HP:0000820HP:0031507Decreased circulating T4 level4VPS13A CL E G H232302388ORPHA023621908605978
HP:0000820HP:0100647Graves disease4VPS13A CL E G H232302388ORPHA023621908605978
HP:0000820HP:0012559Increased T3/T4 ratio4VPS13A CL E G H232302388ORPHA023621908605978
HP:0000820HP:0040198Non-medullary thyroid carcinoma4VPS13A CL E G H232302388ORPHA023621908605978
HP:0000820HP:0011788Increased circulating free T34VPS13A CL E G H232302388ORPHA023621908605978
HP:0000820HP:0000866Euthyroid multinodular goiter4VPS13A CL E G H232302388ORPHA023621908605978
HP:0000820HP:0012560Decreased T3/T4 ratio4VPS13A CL E G H232302388ORPHA023621908605978
HP:0000820HP:0011774Thyroid follicular adenoma4VPS13A CL E G H232302388ORPHA023621908605978
HP:0000820HP:0008245Pituitary hypothyroidism4VPS13A CL E G H232302388ORPHA023621908605978
HP:0000820HP:0011777Thyroid papillary adenoma4VPS13A CL E G H232302388ORPHA023621908605978
HP:0000820HP:0002865Medullary thyroid carcinoma4VPS13A CL E G H232302388ORPHA023621908605978
HP:0000820HP:0032210Decreased circulating free T34VPS13A CL E G H232302388ORPHA023621908605978
HP:0000820HP:0033077Increased circulating free T4 level4VPS13A CL E G H232302388ORPHA023621908605978
HP:0000820HP:0011773Uninodular goiter4VPS13A CL E G H232302388ORPHA023621908605978
HP:0000820HP:0011778Thyroid atypical adenoma4VPS13A CL E G H232302388ORPHA023621908605978
HP:0000820HP:0008237Hypothalamic hypothyroidism4VPS13A CL E G H232302388ORPHA023621908605978
HP:0000820HP:0006731Follicular thyroid carcinoma4VPS13A CL E G H232302388ORPHA023621908605978
HP:0000820HP:0033078Decreased circulating free T4 level4VPS13A CL E G H232302388ORPHA023621908605978
HP:0000820HP:0005987Multinodular goiter4VPS13A CL E G H232302388ORPHA023621908605978
HP:0000820HP:0100029Lingual thyroid4VPS13A CL E G H232302388ORPHA023621908605978
HP:0000820HP:0031506Increased circulating T4 level4VPS13A CL E G H232302388ORPHA023621908605978
HP:0000820HP:0006781Hurthle cell thyroid adenoma4VPS13A CL E G H232302388ORPHA023621908605978
HP:0000820HP:0011775Thyroid macrofollicular adenoma5BCL10 CL E G H891552417ORPHA0116989603517
HP:0000820HP:0011776Thyroid microfollicular adenoma5BCL10 CL E G H891552417ORPHA0116989603517
HP:0000820HP:0011775Thyroid macrofollicular adenoma5BIRC3 CL E G H33052417ORPHA051591601721
HP:0000820HP:0011776Thyroid microfollicular adenoma5BIRC3 CL E G H33052417ORPHA051591601721
HP:0000820HP:0011775Thyroid macrofollicular adenoma5FOXP1 CL E G H2708652417ORPHA07003823605515
HP:0000820HP:0011776Thyroid microfollicular adenoma5FOXP1 CL E G H2708652417ORPHA07003823605515
HP:0000820HP:0011775Thyroid macrofollicular adenoma5IGH CL E G H349252417ORPHA01795477146910
HP:0000820HP:0011776Thyroid microfollicular adenoma5IGH CL E G H349252417ORPHA01795477146910
HP:0000820HP:0011775Thyroid macrofollicular adenoma5MALT1 CL E G H1089252417ORPHA04226819604860
HP:0000820HP:0011776Thyroid microfollicular adenoma5MALT1 CL E G H1089252417ORPHA04226819604860
HP:0000820HP:0011776Thyroid microfollicular adenoma5TWNK CL E G H56652609286Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3609286C1836439OMIM04501160606075
HP:0000820HP:0011775Thyroid macrofollicular adenoma5TWNK CL E G H56652609286Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3609286C1836439OMIM04501160606075
HP:0000820HP:0011775Thyroid macrofollicular adenoma5VPS13A CL E G H232302388ORPHA023621908605978
HP:0000820HP:0011776Thyroid microfollicular adenoma5VPS13A CL E G H232302388ORPHA023621908605978


Genes (301) :ABCC6 ACP5 ADA ADAMTSL1 ADAR AIP AIRE AKT1 ALMS1 ALX4 APC APOE ARL6IP6 ARNT2 ARVCF B3GLCT BAZ1B BCL10 BCOR BIRC3 BMP4 BMPR1A BRAF BTNL2 BUB1 BUB1B BUB3 C1S CACNA1C CACNA1S CASR CCBE1 CDC73 CDH23 CDKN1A CDKN1B CDKN2B CDKN2C CDON CEP57 CHD7 CLIP2 COMT COX1 COX2 COX3 CP CTNNB1 CTNS DACT1 DCAF17 DCLRE1C DDOST DEAF1 DICER1 DISP1 DLL1 DMXL2 DNAH1 DNAJC19 DUOX2 DUOXA2 ECE1 EDN3 EDNRB EFEMP2 EIF2AK3 ELN ENPP1 EPCAM EXOSC2 EXT2 EYA1 FAN1 FANCI FBLN5 FGF8 FGFR1 FLCN FLII FMR1 FOXE1 FOXH1 FOXI1 FOXP1 FOXP3 FUCA1 GABRA3 GABRD GAS1 GATA1 GATA6 GCH1 GDNF GLI2 GLI3 GLIS3 GNAS GNE GP1BB GPR161 GPR35 GREM1 GTF2I GTF2IRD1 HABP2 HBB HESX1 HIRA HLA-DRB1 HNF1B HNF4A HPD HRAS HSD17B3 IDH1 IDH2 IFIH1 IGH IGSF1 IL12A IL12RB1 IL2RA IL2RG IL7R INSR IQSEC2 IRF5 IYD JAG1 JMJD1C KAT6B KCNAB2 KCNJ10 KCNJ18 KDM6A KEAP1 KIAA0556 KISS1R KLLN KMT2D KRAS LEP LEPR LHX3 LHX4 LIFR LIG4 LIMK1 LMNA LRBA LRP4 MALT1 MARS MCM8 MEN1 MINPP1 MLH1 MLH3 MLXIPL MMEL1 MSH2 MSH3 MSH6 MST1 MSTO1 ND1 ND4 ND5 ND6 NIN NKX2-1 NKX2-5 NLRP1 NNT NODAL NPHS1 NRAS NRTN NSDHL NTRK1 OTX2 PAX8 PCSK1 PDE4D PHF21A PIEZO1 PIK3CA PLCG2 PLVAP PMM2 PMS1 PMS2 POLG POLG2 POLR1C POLR1D POMC POU1F1 POU2AF1 PPP1R15B PRDM16 PRKAR1A PROKR2 PROP1 PTCH1 PTEN PTRH2 RAG1 RAG2 RAI1 RCBTB1 RERE RET RFC2 RMRP RNASEH2A RNASEH2B RNASEH2C ROBO1 RREB1 RRM2B SAA1 SALL1 SAMHD1 SCN4A SDHB SDHC SDHD SEC23B SEC24C SEMA3C SEMA3D SEMA3E SETBP1 SGPL1 SHH SIX1 SIX3 SKI SLC16A2 SLC25A4 SLC26A4 SLC5A5 SOX3 SPIB SRY STAT1 STAT3 STEAP3 STUB1 SUFU SUGCT TANGO2 TBC1D24 TBL2 TBX1 TBX2 TCF4 TCOF1 TDGF1 TF TG TGFBR2 TGIF1 THRA THRB TMEM67 TNFSF15 TNPO3 TPO TRAPPC9 TREX1 TRH TRHR TRIP13 TRNF TRNH TRNL1 TRNL2 TRNN TRNQ TRNS1 TRNS2 TRNW TSC1 TSC2 TSHB TSHR TTC7A TWNK UBR1 UFD1 USP9X VPS13A WDR11 WFS1 WRN XRCC4 ZBTB20 ZIC2

Diseases (223) :52417 417 186 769 131100 182290 3221 609286 2388 411629 300968 758 607944 39041 51 240300 201 615109 64 203800 52022 247806 79665 3258 412 1556 567 904 300166 607932 797 1052 601005 235510 91347 95496 280200 614114 214800 550 48818 857 3464 819 180295 617577 66634 95716 226316 274900 388 90349 1667 194050 144 617763 609053 610883 93256 300623 95713 705 274600 304790 349 1606 190685 98808 146510 562 174800 103580 612462 602 171 231214 93111 2118 752 264300 163634 300888 606367 274800 3047 176400 262700 3206 99812 79474 614700 615486 612885 502423 617675 95712 617388 256300 95720 218700 616843 615108 618183 212065 254892 613038 616817 262600 137608 65285 158350 616263 617175 85445 107480 99736 616858 617575 300523 274400 300123 1772 391487 614162 615952 300298 412057 231690 616878 188400 1195 274700 97927 614450 188570 274300 145650 274500 99832 663 805 191100 613254 90674 90673 99819 424 603373 609152 243800 411590 222300 616541 521445 709 157794 613783 79102 99880 143 652 276152 219800 300536 276399 616113 607200 113650 319487 241850 1226 2255 672 610199 226307 147920 616784 480536 617100 614851 610978 225250 614736 308050 280651 614613 614468 94125 861 1359 160980 109 171400 162300 798 79500 618223 352530 275100 275200 436252 902 259050 2965 175100 615926 54595 145001 138800 122 95494 188470 118450 66628 179494 614963 231720 155240 71528 71526 90695 602152 275120
 

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