Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the endocrine system (HP:0000818)help
Grandparent Node:
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Neoplasm by anatomical site (HP:0011793)help
Parent Node:
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Abnormality of the parathyroid morphology (HP:0011766)help
Parent Node:
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Neoplasm of the endocrine system (HP:0100568)help
..Starting node
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Neoplasm of the parathyroid gland (HP:0100733)help
Term ID: 100733
Name: Neoplasm of the parathyroid gland
Synonym: Parathyroid neoplasia
Definition: A tumor (abnormal growth of tissue) of the parathyroid gland.
Comments:
Reference: HP:0100733
Genes and Diseases:
 
       Child Nodes:
........expandParathyroid adenoma (HP:0002897) help
........expandParathyroid carcinoma (HP:0006780) help

 Sister Nodes: 
..expandAPUdoma (HP:0040192) help
..expandNeoplasm of the adrenal gland (HP:0100631) help
..expandNeoplasm of the pituitary gland (HP:0040277) help
..expandNeoplasm of the thyroid gland (HP:0100031) help
..expandNeuroendocrine neoplasm (HP:0100634) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0100733HP:0100733Neoplasm of the parathyroid gland0CASR CL E G H8461514OMIM:145980Hypocalciuric hypercalcemia, familial, type I272
HP:0100733HP:0100733Neoplasm of the parathyroid gland0CDC73 CL E G H7957716783ORPHA:99879Familial isolated hyperparathyroidism169
HP:0100733HP:0100733Neoplasm of the parathyroid gland0CDC73 CL E G H7957716783OMIM:145001Hyperparathyroidism 2169
HP:0100733HP:0100733Neoplasm of the parathyroid gland0CDC73 CL E G H7957716783ORPHA:99880Hyperparathyroidism-jaw tumor syndrome169
HP:0100733HP:0100733Neoplasm of the parathyroid gland0CDC73 CL E G H7957716783OMIM:608266Parathyroid carcinoma169
HP:0100733HP:0100733Neoplasm of the parathyroid gland0CDC73 CL E G H7957716783ORPHA:143Parathyroid carcinoma169
HP:0100733HP:0100733Neoplasm of the parathyroid gland0CDKN1A CL E G H10261784ORPHA:652Multiple endocrine neoplasia type 12
HP:0100733HP:0100733Neoplasm of the parathyroid gland0CDKN1B CL E G H10271785ORPHA:652Multiple endocrine neoplasia type 1102
HP:0100733HP:0100733Neoplasm of the parathyroid gland0CDKN1B CL E G H10271785ORPHA:276152Multiple endocrine neoplasia type 4102
HP:0100733HP:0100733Neoplasm of the parathyroid gland0CDKN1B CL E G H10271785OMIM:610755Multiple endocrine neoplasia, type IV102
HP:0100733HP:0100733Neoplasm of the parathyroid gland0CDKN2B CL E G H10301788ORPHA:652Multiple endocrine neoplasia type 11
HP:0100733HP:0100733Neoplasm of the parathyroid gland0CDKN2C CL E G H10311789ORPHA:652Multiple endocrine neoplasia type 1
HP:0100733HP:0100733Neoplasm of the parathyroid gland0CLCNKB CL E G H11882027ORPHA:358Gitelman syndrome27
HP:0100733HP:0100733Neoplasm of the parathyroid gland0FLCN CL E G H20116327310ORPHA:122Birt-Hogg-Dubé syndrome332
HP:0100733HP:0100733Neoplasm of the parathyroid gland0GCM2 CL E G H92474198ORPHA:99879Familial isolated hyperparathyroidism51
HP:0100733HP:0100733Neoplasm of the parathyroid gland0GCM2 CL E G H92474198OMIM:617343Hyperparathyroidism 451
HP:0100733HP:0100733Neoplasm of the parathyroid gland0IDH1 CL E G H34175382ORPHA:163634Maffucci syndromeHP:0040283 - Occasional15
HP:0100733HP:0100733Neoplasm of the parathyroid gland0IDH2 CL E G H34185383ORPHA:163634Maffucci syndromeHP:0040283 - Occasional29
HP:0100733HP:0100733Neoplasm of the parathyroid gland0IFNG CL E G H34585438ORPHA:805Tuberous sclerosis complex23
HP:0100733HP:0100733Neoplasm of the parathyroid gland0MEN1 CL E G H42217010ORPHA:99879Familial isolated hyperparathyroidism462
HP:0100733HP:0100733Neoplasm of the parathyroid gland0MEN1 CL E G H42217010OMIM:131100Multiple endocrine neoplasia 1462
HP:0100733HP:0100733Neoplasm of the parathyroid gland0MEN1 CL E G H42217010ORPHA:652Multiple endocrine neoplasia type 1462
HP:0100733HP:0100733Neoplasm of the parathyroid gland0NF1 CL E G H47637765OMIM:162200Neurofibromatosis, type I1952
HP:0100733HP:0100733Neoplasm of the parathyroid gland0RET CL E G H59799967OMIM:171400Multiple endocrine neoplasia, type IIA572
HP:0100733HP:0100733Neoplasm of the parathyroid gland0SLC12A3 CL E G H655910912ORPHA:358Gitelman syndrome145
HP:0100733HP:0100733Neoplasm of the parathyroid gland0TSC1 CL E G H724812362ORPHA:805Tuberous sclerosis complex1090
HP:0100733HP:0100733Neoplasm of the parathyroid gland0TSC2 CL E G H724912363ORPHA:805Tuberous sclerosis complex2738
HP:0100733HP:0002897Parathyroid adenoma1CASR CL E G H8461514OMIM:145980Hypocalciuric hypercalcemia, familial, type I.272
HP:0100733HP:0002897Parathyroid adenoma1CDC73 CL E G H7957716783ORPHA:99879Familial isolated hyperparathyroidismHP:0040281 - Very frequent169
HP:0100733HP:0002897Parathyroid adenoma1CDC73 CL E G H7957716783OMIM:145001Hyperparathyroidism 2.169
HP:0100733HP:0006780Parathyroid carcinoma1CDC73 CL E G H7957716783OMIM:145001Hyperparathyroidism 2.169
HP:0100733HP:0002897Parathyroid adenoma1CDC73 CL E G H7957716783ORPHA:99880Hyperparathyroidism-jaw tumor syndromeHP:0040280 - Obligate169
HP:0100733HP:0006780Parathyroid carcinoma1CDC73 CL E G H7957716783ORPHA:143Parathyroid carcinomaHP:0040280 - Obligate169
HP:0100733HP:0006780Parathyroid carcinoma1CDC73 CL E G H7957716783OMIM:608266Parathyroid carcinoma.169
HP:0100733HP:0006780Parathyroid carcinoma1CDKN1A CL E G H10261784ORPHA:652Multiple endocrine neoplasia type 1HP:0040284 - Very rare2
HP:0100733HP:0006780Parathyroid carcinoma1CDKN1B CL E G H10271785ORPHA:652Multiple endocrine neoplasia type 1HP:0040284 - Very rare102
HP:0100733HP:0006780Parathyroid carcinoma1CDKN1B CL E G H10271785ORPHA:276152Multiple endocrine neoplasia type 4HP:0040283 - Occasional102
HP:0100733HP:0002897Parathyroid adenoma1CDKN1B CL E G H10271785ORPHA:276152Multiple endocrine neoplasia type 4HP:0040281 - Very frequent102
HP:0100733HP:0002897Parathyroid adenoma1CDKN1B CL E G H10271785OMIM:610755Multiple endocrine neoplasia, type IV102
HP:0100733HP:0006780Parathyroid carcinoma1CDKN2B CL E G H10301788ORPHA:652Multiple endocrine neoplasia type 1HP:0040284 - Very rare1
HP:0100733HP:0006780Parathyroid carcinoma1CDKN2C CL E G H10311789ORPHA:652Multiple endocrine neoplasia type 1HP:0040284 - Very rare
HP:0100733HP:0002897Parathyroid adenoma1CLCNKB CL E G H11882027ORPHA:358Gitelman syndromeHP:0040284 - Very rare27
HP:0100733HP:0002897Parathyroid adenoma1FLCN CL E G H20116327310ORPHA:122Birt-Hogg-Dubé syndromeHP:0040283 - Occasional332
HP:0100733HP:0002897Parathyroid adenoma1GCM2 CL E G H92474198ORPHA:99879Familial isolated hyperparathyroidismHP:0040281 - Very frequent51
HP:0100733HP:0006780Parathyroid carcinoma1GCM2 CL E G H92474198OMIM:617343Hyperparathyroidism 4HP:0040283 - Occasional51
HP:0100733HP:0002897Parathyroid adenoma1IDH1 CL E G H34175382ORPHA:163634Maffucci syndromeHP:0040283 - Occasional15
HP:0100733HP:0002897Parathyroid adenoma1IDH2 CL E G H34185383ORPHA:163634Maffucci syndromeHP:0040283 - Occasional29
HP:0100733HP:0002897Parathyroid adenoma1IFNG CL E G H34585438ORPHA:805Tuberous sclerosis complexHP:0040284 - Very rare23
HP:0100733HP:0002897Parathyroid adenoma1MEN1 CL E G H42217010ORPHA:99879Familial isolated hyperparathyroidismHP:0040281 - Very frequent462
HP:0100733HP:0002897Parathyroid adenoma1MEN1 CL E G H42217010OMIM:131100Multiple endocrine neoplasia 1.462
HP:0100733HP:0006780Parathyroid carcinoma1MEN1 CL E G H42217010ORPHA:652Multiple endocrine neoplasia type 1HP:0040284 - Very rare462
HP:0100733HP:0002897Parathyroid adenoma1NF1 CL E G H47637765OMIM:162200Neurofibromatosis, type I.1952
HP:0100733HP:0002897Parathyroid adenoma1RET CL E G H59799967OMIM:171400Multiple endocrine neoplasia, type IIA.572
HP:0100733HP:0002897Parathyroid adenoma1SLC12A3 CL E G H655910912ORPHA:358Gitelman syndromeHP:0040284 - Very rare145
HP:0100733HP:0002897Parathyroid adenoma1TSC1 CL E G H724812362ORPHA:805Tuberous sclerosis complexHP:0040284 - Very rare1090
HP:0100733HP:0002897Parathyroid adenoma1TSC2 CL E G H724912363ORPHA:805Tuberous sclerosis complexHP:0040284 - Very rare2738


Genes (18) :CASR CDC73 CDKN1A CDKN1B CDKN2B CDKN2C CLCNKB FLCN GCM2 IDH1 IDH2 IFNG MEN1 NF1 RET SLC12A3 TSC1 TSC2

Diseases (17) :OMIM:145980 ORPHA:99879 OMIM:145001 ORPHA:99880 OMIM:608266 ORPHA:143 ORPHA:652 ORPHA:276152 OMIM:610755 ORPHA:358 ORPHA:122 OMIM:617343 ORPHA:163634 ORPHA:805 OMIM:131100 OMIM:162200 OMIM:171400
 

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