Rare diseases · Sign or symptom
Goiter
Enlarged thyroid gland in neck
HP:0000853
What it means
An enlargement of the thyroid gland.
Rare diseases that can present with this26
Very common80–99%
8- Anaplastic thyroid carcinoma
- Congenital hypothyroidism due to maternal intake of antithyroid drugs
- Cowden syndrome
- Familial gestational hyperthyroidism
- Familial hyperthyroidism due to mutations in TSH receptor
- IgG4-related thyroid disease
- Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta
- TSH-secreting pituitary adenoma
Common30–79%
9- AH amyloidosis
- Ascher syndrome
- Familial papillary or follicular thyroid carcinoma
- Familial papillary thyroid carcinoma with renal papillary neoplasia
- Familial thyroid dyshormonogenesis
- Genetic transient congenital hypothyroidism
- Pediatric-onset Graves disease
- Pendred syndrome
- Steroid-responsive encephalopathy associated with autoimmune thyroiditis
Sometimes5–29%
5The range is how often this sign appears among people diagnosed with each disease — it is not a probability of having any of them. Many of these signs also occur in common, non-rare conditions, and Orphanet separately records 3 diseases where this sign is specifically absent. A sign on this page is a conversation to have with a clinician, not a conclusion.
Part of the broader category
Also called: Goitre · Thyroid goiter · Thyroid goitre
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Start free with EleplanThis page uses the Human Phenotype Ontology (2026-06-23) — Human Phenotype Ontology Consortium, hpo.jax.org. Disease associations from Orphanet (INSERM), CC BY 4.0. Content is educational and is not medical advice.