thyroid hemiagenesis
MONDO:0019860Mondo
Findings
No curated finding names thyroid hemiagenesis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Thyroid hemiagenesis is a form of thyroid dysgenesis characterized by an absence of half of the thyroid gland that is usually asymptomatic but may result in primary congenital hypothyroidism, a permanent thyroid deficiency that is present from birth.
Definition from the Mondo Disease Ontology (MONDO:0019860), read 2026-09-29. CC BY 4.0.
Features
27 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.
- Thyroid hemiagenesisHPOHP:0011780
- 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)
- Coarse facial featuresHPOHP:0000280
- Very frequent (80% to 99% of cases)
- ConstipationHPOHP:0002019
- Very frequent (80% to 99% of cases)
- Excessive daytime somnolenceHPOHP:0001262
- Very frequent (80% to 99% of cases)
- FatigueHPOHP:0012378
- Very frequent (80% to 99% of cases)
- Global developmental delayHPOHP:0001263
- Very frequent (80% to 99% of cases)
- Growth delayHPOHP:0001510
- 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 15
- MacroglossiaHPOHP:0000158
- Very frequent (80% to 99% of cases)
- Thyroid agenesisHPOHP:0008191
- Very frequent (80% to 99% of cases)
- Umbilical herniaHPOHP:0001537
- Very frequent (80% to 99% of cases)
- Anti-thyroglobulin antibody positivityHPOHP:0032069
- Frequent (30% to 79% of cases)
- Anti-thyroid peroxidase antibody positivityHPOHP:0025379
- Frequent (30% to 79% of cases)
- Elevated circulating thyroid-stimulating hormone concentrationHPOHP:0002925