Human Phenotype Ontology 
Grandparent Node:
expandHyperthyroidism (HP:0000836)help
Parent Node:
expandThyrotoxicosis with diffuse goiter (HP:0011784)help
..Starting node
..expandGraves disease (HP:0100647)help
Term ID: 100647
Name: Graves disease
Synonym: Morbus Basedow
Definition: An autoimmune disease where the thyroid is overactive, producing an excessive amount of thyroid hormones (a serious metabolic imbalance known as hyperthyroidism and thyrotoxicosis). This is caused by autoantibodies to the TSH-receptor (TSHR-Ab) that activate that TSH-receptor (TSHR), thereby stimulating thyroid hormone synthesis and secretion, and thyroid growth (causing a diffusely enlarged goiter). The resulting state of hyperthyroidism can cause a dramatic constellation of neuropsychological and physical signs and symptoms, which can severely compromise the patients.
Comments:
Reference: HP:0100647
Genes and Diseases:
 
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InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0100647HP:0100647Graves disease0CACNA1S CL E G H7791397ORPHA:79102Thyrotoxic periodic paralysisHP:0040281 - Very frequent247
HP:0100647HP:0100647Graves disease0CLCNKB CL E G H11882027ORPHA:358Gitelman syndromeHP:0040284 - Very rare27
HP:0100647HP:0100647Graves disease0GABRA3 CL E G H25564077ORPHA:79102Thyrotoxic periodic paralysisHP:0040281 - Very frequent
HP:0100647HP:0100647Graves disease0KCNJ18 CL E G H10013444439080ORPHA:79102Thyrotoxic periodic paralysisHP:0040281 - Very frequent10
HP:0100647HP:0100647Graves disease0SLC12A3 CL E G H655910912ORPHA:358Gitelman syndromeHP:0040284 - Very rare145


Genes (5) :CACNA1S CLCNKB GABRA3 KCNJ18 SLC12A3

Diseases (2) :ORPHA:79102 ORPHA:358
 

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