Human Phenotype Ontology 
Grandparent Node:
expand
Abnormality of the parathyroid gland (HP:0000828)help
Parent Node:
expand
Abnormality of the parathyroid morphology (HP:0011766)help
..Starting node
..expand
Parathyroid hyperplasia (HP:0008208)help
Term ID: 8208
Name: Parathyroid hyperplasia
Synonym: Enlarged parathyroid glands
Definition: Hyperplasia of the parathyroid gland.
Comments:
Reference: HP:0008208
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandNeoplasm of the parathyroid gland (HP:0100733) help
..expandParathyroid dysgenesis (HP:0011768) 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:0008208HP:0008208Parathyroid hyperplasia0CDKN1A CL E G H10261784ORPHA:652Multiple endocrine neoplasia type 1HP:0040281 - Very frequent2
HP:0008208HP:0008208Parathyroid hyperplasia0CDKN1B CL E G H10271785ORPHA:652Multiple endocrine neoplasia type 1HP:0040281 - Very frequent102
HP:0008208HP:0008208Parathyroid hyperplasia0CDKN1B CL E G H10271785ORPHA:276152Multiple endocrine neoplasia type 4HP:0040281 - Very frequent102
HP:0008208HP:0008208Parathyroid hyperplasia0CDKN2B CL E G H10301788ORPHA:652Multiple endocrine neoplasia type 1HP:0040281 - Very frequent1
HP:0008208HP:0008208Parathyroid hyperplasia0CDKN2C CL E G H10311789ORPHA:652Multiple endocrine neoplasia type 1HP:0040281 - Very frequent
HP:0008208HP:0008208Parathyroid hyperplasia0IFNG CL E G H34585438ORPHA:805Tuberous sclerosis complexHP:0040284 - Very rare23
HP:0008208HP:0008208Parathyroid hyperplasia0KL CL E G H93656344OMIM:617994TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 3; HFTC368
HP:0008208HP:0008208Parathyroid hyperplasia0MEN1 CL E G H42217010ORPHA:652Multiple endocrine neoplasia type 1HP:0040281 - Very frequent462
HP:0008208HP:0008208Parathyroid hyperplasia0RET CL E G H59799967OMIM:162300Multiple endocrine neoplasia, type IIB.572
HP:0008208HP:0008208Parathyroid hyperplasia0TSC1 CL E G H724812362ORPHA:805Tuberous sclerosis complexHP:0040284 - Very rare1090
HP:0008208HP:0008208Parathyroid hyperplasia0TSC2 CL E G H724912363ORPHA:805Tuberous sclerosis complexHP:0040284 - Very rare2738


Genes (10) :CDKN1A CDKN1B CDKN2B CDKN2C IFNG KL MEN1 RET TSC1 TSC2

Diseases (5) :ORPHA:652 ORPHA:276152 ORPHA:805 OMIM:617994 OMIM:162300
 

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