Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Hepatic veno-occlusive disease with immunodeficiency syndrome (disorder) |
Has definitional manifestation |
False |
Immune system finding |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
LIG4 syndrome is a hereditary disorder associated with impaired DNA double-strand break repair mechanisms and characterized by microcephaly, unusual facial features, growth and developmental delay, skin anomalies, and pancytopenia, which is associated with combined immunodeficiency (CID). |
Has definitional manifestation |
False |
Immune system finding |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Laron syndrome with immunodeficiency (disorder) |
Has definitional manifestation |
False |
Immune system finding |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Primary immunodeficiency with natural killer cell deficiency and adrenal insufficiency (disorder) |
Has definitional manifestation |
False |
Immune system finding |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
X-linked immune dysregulation, polyendocrinopathy, enteropathy syndrome |
Has definitional manifestation |
False |
Immune system finding |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Combined immunodeficiency due to CD3gamma deficiency (disorder) |
Has definitional manifestation |
False |
Immune system finding |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Immunodeficiency by defective expression of human leukocyte antigen class 1 |
Has definitional manifestation |
False |
Immune system finding |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Neutropenia, monocytopenia, deafness syndrome (disorder) |
Has definitional manifestation |
False |
Immune system finding |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Autosomal dominant mendelian susceptibility to mycobacterial disease due to partial interferon gamma receptor 1 deficiency (disorder) |
Has definitional manifestation |
False |
Immune system finding |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Autosomal dominant mendelian susceptibility to mycobacterial disease due to partial interferon gamma receptor 2 deficiency |
Has definitional manifestation |
False |
Immune system finding |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Combined immunodeficiency due to partial RAG1 deficiency |
Has definitional manifestation |
False |
Immune system finding |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Anhidrotic ectodermal dysplasia with immune deficiency (disorder) |
Has definitional manifestation |
False |
Immune system finding |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Autosomal recessive mendelian susceptibility to mycobacterial disease due to partial interferon gamma receptor 1 deficiency (disorder) |
Has definitional manifestation |
False |
Immune system finding |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Autosomal recessive mendelian susceptibility to mycobacterial diseases (MSMD) due to partial IFNgammaR2 deficiency is a genetic variant of MSMD characterized by a partial deficiency in IFN-gammaR2, leading to a residual response to IFN-gamma and consequently to recurrent, moderately severe infections with bacillus Calmette-Guérin (BCG) and other environmental mycobacteria (EM). |
Has definitional manifestation |
False |
Immune system finding |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Granulomatous inflammatory arthritis, dermatitis and uveitis, familial |
Has definitional manifestation |
False |
Immune system finding |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Sporadic Blau syndrome |
Has definitional manifestation |
False |
Immune system finding |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Primary hemophagocytic lymphohistiocytosis |
Has definitional manifestation |
False |
Immune system finding |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Acquired neutrophilia (disorder) |
Has definitional manifestation |
False |
Immune system finding |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Adult-onset immunodeficiency (disorder) |
Has definitional manifestation |
False |
Immune system finding |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Constitutional neutrophilia (disorder) |
Has definitional manifestation |
False |
Immune system finding |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Acquired disorder of neutrophil function |
Has definitional manifestation |
False |
Immune system finding |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Disorder of neutrophil adhesion (disorder) |
Has definitional manifestation |
False |
Immune system finding |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Disorder of neutrophil chemotaxis (disorder) |
Has definitional manifestation |
False |
Immune system finding |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Constitutional eosinopenia (disorder) |
Has definitional manifestation |
False |
Immune system finding |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Acquired eosinopenia |
Has definitional manifestation |
False |
Immune system finding |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Constitutional eosinophilia |
Has definitional manifestation |
False |
Immune system finding |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Acquired eosinophilia (disorder) |
Has definitional manifestation |
False |
Immune system finding |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Acquired lymphocytopenia |
Has definitional manifestation |
False |
Immune system finding |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Acquired lymphocytosis (disorder) |
Has definitional manifestation |
False |
Immune system finding |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Pancytopenia caused by medication |
Has definitional manifestation |
False |
Immune system finding |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Febrile granulocytopenia |
Has definitional manifestation |
False |
Immune system finding |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Natural-killer cell deficiency (disorder) |
Has definitional manifestation |
False |
Immune system finding |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Gardner-Diamond syndrome (disorder) |
Has definitional manifestation |
False |
Immune system finding |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Disorder of immune function (disorder) |
Is a |
False |
Immune system finding |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Normal immune system function |
Is a |
True |
Immune system finding |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|