- Nephrotic syndrome (HP:0000100): Nephrotic syndrome is a collection of findings resulting from glomerular dysfunction with an increase in glomerular capillary wall permeability associated with pronounced proteinuria. Nephrotic syndrome refers to the constellation of clinical findings that result from severe renal loss of protein, with Proteinuria and hypoalbuminemia, edema, and hyperlipidemia. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:39041)
- Hypothyroidism (HP:0000821): Deficiency of thyroid hormone. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:39041)
- Abnormal metaphysis morphology (HP:0000944): An abnormality of one or more metaphysis, i.e., of the somewhat wider portion of a long bone that is adjacent to the epiphyseal growth plate and grows during childhood. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:39041)
- Dry skin (HP:0000958): Skin characterized by the lack of natural or normal moisture. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:39041)
- Edema (HP:0000969): An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:39041)
- Pruritus (HP:0000989): Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:39041)
- Erythroderma (HP:0001019): An inflammatory exfoliative dermatosis involving nearly all of the surface of the skin. Erythroderma develops suddenly. A patchy erythema may generalize and spread to affect most of the skin. Scaling may appear in 2-6 days and be accompanied by hot, red, dry skin, malaise, and fever. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:39041)
- Thickened skin (HP:0001072): Laminar thickening of skin. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:39041)
- Failure to thrive (HP:0001508): Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:39041)
- Alopecia (HP:0001596): A noncongenital process of hair loss, which may progress to partial or complete baldness. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:39041)
- Splenomegaly (HP:0001744): Abnormal increased size of the spleen. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:39041)
- Short toe (HP:0001831): A toe that appears disproportionately short compared to the foot. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:39041)
- Increased total eosinophil count (HP:0001880): Increased count of eosinophils in the blood. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:39041)
- Anemia (HP:0001903): A reduction in erythrocytes volume or hemoglobin concentration. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:39041)
- Fever (HP:0001945): Body temperature elevated above the normal range. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:39041)
- Increased total leukocyte count (HP:0001974): An abnormal increase in the number of leukocytes in the blood. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:39041)
- Chronic diarrhea (HP:0002028): The presence of chronic diarrhea, which is usually taken to mean diarrhea that has persisted for over 4 weeks. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:39041)
- Pneumonia (HP:0002090): Inflammation of any part of the lung parenchyma. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:39041)
- Hepatomegaly (HP:0002240): Abnormally increased size of the liver. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:39041)
- Lymphoma (HP:0002665): A cancer originating in lymphocytes and presenting as a solid tumor of lymhpoid cells. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:39041)
- Lymphadenopathy (HP:0002716): Enlargement (swelling) of a lymph node. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:39041)
- Autoimmunity (HP:0002960): The occurrence of an immune reaction against the organism's own cells or tissues. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:39041)
- Abnormal lymphocyte morphology (HP:0004332): An abnormality of lymphocytes. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:39041)
- Severe combined immunodeficiency (HP:0004430): A type of primary immune deficiency that is characterized by a more severe defect in both the T- and B-lymphocyte systems. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:39041)
- Desquamation of skin soon after birth (HP:0007549). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:39041)
- Thyroiditis (HP:0100646): Inflammation of the thyroid gland. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:39041)
- Sepsis (HP:0100806): Sepsis is defined as life-threatening organ dysfunction caused by a dysregulated host response to infection. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:39041)
- Aplasia/Hypoplasia of the eyebrow (HP:0100840): Absence or underdevelopment of the eyebrow. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:39041)
These phenotypes are associated with the disease Omenn syndrome (ORPHA:39041).