Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Measurement of immunoglobulin E antibody to omega-5 gliadin |
Is a |
True |
Immunoglobulin E measurement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
A rare genetic epidermal disorder with characteristics of congenital erythroderma with severe psoriasiform dermatitis, ichthyosis, severe palmoplantar keratoderma, yellow keratosis on the hands and feet, elevated immunoglobulin E, multiple food allergies, and metabolic wasting. Other variable features may include hypotrichosis, nail dystrophy, recurrent infections, mild global developmental delay, eosinophilia, nystagmus, growth impairment and cardiac defects. |
Interprets |
True |
Immunoglobulin E measurement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Allergen specific immunoglobulin E antibody measurement (procedure) |
Is a |
True |
Immunoglobulin E measurement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
A rare hyper-IgE syndrome characterized by early-onset moderate to severe atopic dermatitis and recurrent infections of variable severity including molluscum contagiosum, pneumonia, abscesses, bacteremia, or eczema herpeticum, among others. Other reported manifestations include asthma, food allergies, colitis, chronic diarrhea, lymphoma, and seizures, as well as dysmorphic facial features, such as prominent forehead, broad nose, and poor dentition. |
Interprets |
True |
Immunoglobulin E measurement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
A rare hyper-IgE syndrome with characteristics of atopic dermatitis (eczema), chronic mucocutaneous candidiasis, and elevated IgE levels due to ZNF341 deficiency. High plasma levels of IgG and low natural killer (NK) cell numbers are observed. Other major clinical features involve recurrent skin infections with skin abscesses and connective tissue abnormalities. Some patients may have recurrent lung infections. |
Interprets |
True |
Immunoglobulin E measurement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
Hyperimmunoglobulin E syndrome |
Interprets |
True |
Immunoglobulin E measurement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Autosomal dominant combined immunodeficiency due to ERBIN deficiency |
Interprets |
True |
Immunoglobulin E measurement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Autosomal dominant combined immunodeficiency due to partial interleukin 6 cytokine family signal transducer deficiency (disorder) |
Interprets |
True |
Immunoglobulin E measurement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Autosomal dominant hyperimmunoglobulin E syndrome due to signal transducer and activator of transcription 3 protein deficiency (disorder) |
Interprets |
True |
Immunoglobulin E measurement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Autosomal recessive combined immunodeficiency due to IL6R deficiency |
Interprets |
True |
Immunoglobulin E measurement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Autosomal recessive combined immunodeficiency due to complete interleukin 6 cytokine family signal transducer deficiency (disorder) |
Interprets |
True |
Immunoglobulin E measurement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
Autosomal recessive combined immunodeficiency due to partial IL6ST deficiency |
Interprets |
True |
Immunoglobulin E measurement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
Netherton syndrome (disorder) |
Interprets |
True |
Immunoglobulin E measurement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
PGM3-related congenital disorder of glycosylation |
Interprets |
True |
Immunoglobulin E measurement |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |