Graves disease

Preferred Label : Graves disease;

Symbol : GRD;

CISMeF acronym : GRD; GRD1;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Hyperthyroidism, autoimmune; THYROTOXICOSIS;

Included titles and symbols : Graves disease, susceptibility to, 1; GRD1;

Description : A locus for susceptibility to Graves disease (GRD1) has been mapped to chromosome 14q31. Other loci for Graves disease include GRD2 (603388) on chromosome 20q13, Graves disease is an autoimmune disorder in which antibodies to the thyrotropin receptor (TSHR; 603372) result in constitutive activation of the receptor and increased levels of thyroid hormone. Wilkin (1990) reviewed endocrine disorders of hormone excess and hormone deficiency resulting from receptor autoimmunity.;

Inheritance : Autosomal recessive vs. dominant with relative sex limitation to females and reduced penetrance postulated, but more likely multifactorial;

Prefixed ID : %275000;

Détails

Origin ID

275000;

UMLS CUI

C0018213;

Automatic exact mappings (from CISMeF team)
- Autoimmune hyperthyroidism [MedDRA LLT]
- GSR wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Basedow's disease [MedDRA Preferred Term]
- Basedow's disease (disorder) [Inactive SNOMED CT concept]
- GRAVES' DISEASE [WHO-ART Included Term]
- Grave disease [Radlex concept]
- Graves Disease [NCIt concept]
- Graves disease [PASCAL descriptor]
- Graves disease [Disease (Nov.)]
- Graves disease [HPO term]
- Graves' disease [DO Concept]
- Graves' disease [MedDRA LLT]
- Graves' disease (disorder) [SNOMED CT concept]
- THYROTOXICOSIS [WHO-ART Included Term]
- Thyrotoxicosis [ICD-11 Category]
- Thyrotoxicosis [NCIt concept]
- Thyrotoxicosis [MedDRA LLT]
- Thyrotoxicosis (disorder) [SNOMED CT concept]
- Thyrotoxicosis with diffuse goitre [ICD-10 Sub-category (who)]
- graves disease [MeSH Descriptor]
- graves disease [MeSH concept]
- hyperthyroidism [MedlinePlus Topic]
- hyperthyroidism/thyrotoxicosis [ICPC-2 Rubric]
- thyroid diseases [MedlinePlus Topic]
- thyrotoxicosis [Disease (Nov.)]
- thyrotoxicosis [DO Concept]
- thyrotoxicosis [MeSH Descriptor]
- thyrotoxicosis [MeSH concept]
- thyrotoxicosis, nos [SNOMED Notion]
- toxic diffuse goiter [SNOMED Notion]
False automatic mappings
- Grenada [NCIt concept]
HPO term(s)
- Abnormal abdomen morphology [HPO term]
- Abnormality of metabolism/homeostasis [HPO term]
- Autosomal recessive inheritance [HPO term]
- Congestive heart failure [HPO term]
- Diaphoresis [HPO term]
- Goiter [HPO term]
- Graves disease [HPO term]
- Hyperactivity [HPO term]
- Hyperhidrosis [HPO term]
- Hyperreflexia [HPO term]
- Irritability [HPO term]
- Muscle weakness [HPO term]
- Onycholysis [HPO term]
- Polyphagia [HPO term]
- Pretibial myxedema [HPO term]
- Proptosis [HPO term]
- Weight loss [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
- Finding [UMLS semantic type]
UMLS correspondences (same concept)
- Autoimmune hyperthyroidism [MedDRA LLT]
- Basedow's disease [MedDRA LLT]
- Basedow's disease [MedDRA Preferred Term]
- Basedow's disease (disorder) [Inactive SNOMED CT concept]
- Exophthalmic goiter [MedDRA LLT]
- Exophthalmic goitre [MedDRA LLT]
- GRAVES' DISEASE [WHO-ART Included Term]
- Goiter exophthalmic [MedDRA LLT]
- Goitre exophthalmic [MedDRA LLT]
- Graves Disease [NCIt concept]
- Graves disease [HPO term]
- Graves' disease [MedDRA LLT]
- Graves' disease [MedDRA Preferred Term]
- Graves' disease [DO Concept]
- Graves' disease (disorder) [SNOMED CT concept]
- Graves-Basedow disease [MedDRA LLT]
- graves disease [MeSH concept]
- graves disease [MeSH Descriptor]
- toxic diffuse goiter with exophthalmos [SNOMED Notion]

Position du mot-clé dans l'(les) arborescence(s) :

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