thyroid ectopia
MONDO:0019854Mondo
Findings
No curated finding names thyroid ectopia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Thyroid ectopia is a form of thyroid dysgenesis characterized by an ectopic location of the thyroid gland that results in primary congenital hypothyroidism, a permanent thyroid deficiency that is present from birth.
Definition from the Mondo Disease Ontology (MONDO:0019854), read 2026-09-29. CC BY 4.0.
Features
26 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Ectopic thyroidHPOHP:0100028
- Obligate (100% of cases)
- Abdominal distentionHPOHP:0003270
- Very frequent (80% to 99% of cases)
- Abnormality of the faceHPOHP:0000271
- Very frequent (80% to 99% of cases)
- Abnormality of the thyroid glandHPOHP:0000820
- Very frequent (80% to 99% of cases)
- Coarse facial featuresHPOHP:0000280
- Very frequent (80% to 99% of cases)
- ConstipationHPOHP:0002019
- Very frequent (80% to 99% of cases)
- Elevated circulating thyroid-stimulating hormone concentrationHPOHP:0002925
- Very frequent (80% to 99% of cases)
- Excessive daytime somnolenceHPOHP:0001262
- Very frequent (80% to 99% of cases)
- HypothyroidismHPOHP:0000821
- Very frequent (80% to 99% of cases)
- HypotoniaHPOHP:0001252
- Very frequent (80% to 99% of cases)
- JaundiceHPOHP:0000952
- Very frequent (80% to 99% of cases)
- Large fontanellesHPOHP:0000239
- Very frequent (80% to 99% of cases)
Show the remaining 14
- Lingual thyroidHPOHP:0100029
- Very frequent (80% to 99% of cases)
- MacroglossiaHPOHP:0000158
- Very frequent (80% to 99% of cases)
- Muscle weaknessHPOHP:0001324
- Very frequent (80% to 99% of cases)
- Umbilical herniaHPOHP:0001537
- Very frequent (80% to 99% of cases)
- Cold intoleranceHPOHP:6000855
- Frequent (30% to 79% of cases)
- Dry skinHPOHP:0000958
- Frequent (30% to 79% of cases)