Phenotypes associated with the disease Thyroid hemiagenesis (ORPHA:95719):
- Growth delay (HP:0001510): A deficiency or slowing down of growth pre- and postnatally. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:95719)
- Umbilical hernia (HP:0001537): Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:95719)
- Constipation (HP:0002019): Infrequent or difficult evacuation of feces. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:95719)
- Abdominal distention (HP:0003270): Distention of the abdomen. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:95719)
- Thyroid agenesis (HP:0008191): The congenital absence of the thyroid gland. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:95719)
- Fatigue (HP:0012378): A subjective feeling of tiredness characterized by a lack of energy and motivation. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:95719)
- Excessive daytime somnolence (HP:0001262): A state of abnormally strong desire for sleep during the daytime. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:95719)
- Thyroid adenoma (HP:0000854): The presence of a adenoma of the thyroid gland. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:95719)
- Hashimoto thyroiditis (HP:0000872): A chronic, autoimmune type of thyroiditis associated with hypothyroidism. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:95719)
- Elevated circulating thyroid-stimulating hormone concentration (HP:0002925): Increased concentration of thyroid-stimulating hormone (TSH) in the blood circulation. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:95719)
- Increased circulating free T3 (HP:0011788): An elevated concentration of free 3,3',5-triiodo-L-thyronine in the blood circulation. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:95719)
- Anti-thyroid peroxidase antibody positivity (HP:0025379): The presence of autoantibodies (immunoglobulins) in the serum that react against thyroid peroxidase. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:95719)
- Thyroid nodule (HP:0025388): A nodular lesion that develops in the thyroid gland. The term "thyroid nodule" refers to any abnormal growth that forms a lump in the thyroid gland. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:95719)
- Anti-thyroglobulin antibody positivity (HP:0032069): The presence of autoantibodies (immunoglobulins) in the serum that react to thyroglobulin. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:95719)
- Hyperparathyroidism (HP:0000843): Excessive production of parathyroid hormone (PTH) by the parathyroid glands. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:95719)
- Papillary thyroid carcinoma (HP:0002895): The presence of a papillary adenocarcinoma of the thyroid gland. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:95719)
- Graves disease (HP:0100647): 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. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:95719)
- Medullary thyroid carcinoma (HP:0002865): The presence of a medullary carcinoma of the thyroid gland. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:95719)
- Follicular thyroid carcinoma (HP:0006731): The presence of an follicular adenocarcinoma of the thyroid gland. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:95719)
- Thyroid hemiagenesis (HP:0011780): Absence of a lobe of the thyroid gland related to a failure of its embryologic development. Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:95719)
- Macroglossia (HP:0000158): Increased length and width of the tongue. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:95719)
- Large fontanelles (HP:0000239): In newborns, the two frontal bones, two parietal bones, and one occipital bone are joined by fibrous sutures, which form a small posterior fontanelle, and a larger, diamond-shaped anterior fontanelle. These regions allow for the skull to pass the birth canal and for later growth. The fontanelles gradually ossify, whereby the posterior fontanelle usually closes by eight weeks and the anterior fontanelle by the 9th to 16th month of age. Large fontanelles are diagnosed if the fontanelles are larger than age-dependent norms. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:95719)
- Abnormality of the face (HP:0000271): An abnormality of the face. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:95719)
- Coarse facial features (HP:0000280): Absence of fine and sharp appearance of brows, nose, lips, mouth, and chin, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:95719)
- Jaundice (HP:0000952): Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:95719)
- Hypotonia (HP:0001252): Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:95719)
- Global developmental delay (HP:0001263): A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:95719)