Human Gene Set: HP_GRAVES_DISEASE


Standard name HP_GRAVES_DISEASE
Systematic name M38783
Brief description Graves disease
Full description or abstract 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. [https://orcid.org/0009-0006-4530-3154]
Collection C5: Ontology
      HPO: Human Phenotype Ontology
Source publication  
Exact source HP:0100647
Related gene sets  
External links https://hpo.jax.org/app/browse/term/HP:0100647
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Source species Homo sapiens
Contributed by Human Phenotype Ontology Group (The Jackson Laboratory (JAX))
Source platform or
identifier namespace
Human_NCBI_Gene_ID
Dataset references  
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Version history 2024.1.Hs: Updated to HPO Release 2024-04-26.

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