Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
Chédiak-Higashi syndrome |
Has definitional manifestation |
False |
Immune system finding |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Alloimmune neonatal neutropenia |
Has definitional manifestation |
False |
Immune system finding |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Eosinophilic meningoencephalitis |
Has definitional manifestation |
False |
Immune system finding |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Shwachman syndrome |
Has definitional manifestation |
False |
Immune system finding |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Reticular dysgenesis with congenital aleucocytosis |
Has definitional manifestation |
False |
Immune system finding |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Infectious lymphocytosis (disorder) |
Has definitional manifestation |
False |
Immune system finding |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Cyclical neutropenia (disorder) |
Has definitional manifestation |
False |
Immune system finding |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
HIV infection with infectious mononucleosis-like syndrome |
Has definitional manifestation |
False |
Immune system finding |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Leukocyte adhesion deficiency - type 1 |
Has definitional manifestation |
False |
Immune system finding |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Asthmatic pulmonary eosinophilia |
Has definitional manifestation |
False |
Immune system finding |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
trouble éosinophile |
Has definitional manifestation |
False |
Immune system finding |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Lymphocyte disorder (disorder) |
Has definitional manifestation |
False |
Immune system finding |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Systemic mastocytosis with associated clonal hematological non-mast cell lineage disease (disorder) |
Has definitional manifestation |
False |
Immune system finding |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
B lymphocyte disorder (disorder) |
Has definitional manifestation |
False |
Immune system finding |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Neutropenia with dysgranulopoiesis (disorder) |
Has definitional manifestation |
False |
Immune system finding |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Cytomegaloviral mononucleosis |
Has definitional manifestation |
False |
Immune system finding |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Heterophil-negative mononucleosis syndrome |
Has definitional manifestation |
False |
Immune system finding |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Mast cell malignancy of intra-abdominal lymph nodes |
Has definitional manifestation |
False |
Immune system finding |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Eosinophilia myalgia syndrome (disorder) |
Has definitional manifestation |
False |
Immune system finding |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Cryptogenic pulmonary eosinophilia |
Has definitional manifestation |
False |
Immune system finding |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Hereditary white blood cell disorder (disorder) |
Has definitional manifestation |
False |
Immune system finding |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
X-linked hypogammaglobulinemia |
Has definitional manifestation |
False |
Immune system finding |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Drug-induced neutrophilia |
Has definitional manifestation |
False |
Immune system finding |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Aggressive lymphadenopathic mastocytosis with eosinophilia (disorder) |
Has definitional manifestation |
False |
Immune system finding |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Diffuse infiltrative lymphocytosis syndrome (disorder) |
Has definitional manifestation |
False |
Immune system finding |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Mast cell disorder (disorder) |
Has definitional manifestation |
False |
Immune system finding |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Chronic neutrophilia |
Has definitional manifestation |
False |
Immune system finding |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Congenital neutropenia |
Has definitional manifestation |
False |
Immune system finding |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Neutrophil secondary granule deficiency |
Has definitional manifestation |
False |
Immune system finding |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Immune neutropenia |
Has definitional manifestation |
False |
Immune system finding |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Chronic granulomatous disease, type IVA |
Has definitional manifestation |
False |
Immune system finding |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Chronic hypoplastic neutropenia |
Has definitional manifestation |
False |
Immune system finding |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Bullous cutaneous mastocytosis |
Has definitional manifestation |
False |
Immune system finding |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Mast cell malignancy of intrathoracic lymph nodes |
Has definitional manifestation |
False |
Immune system finding |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Qualitative abnormality of granulocyte |
Has definitional manifestation |
False |
Immune system finding |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Malignant mast cell tumors |
Has definitional manifestation |
False |
Immune system finding |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Neutrophil cytomatrix disorder (disorder) |
Has definitional manifestation |
False |
Immune system finding |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Leukozytenadhäsionsdefekt |
Has definitional manifestation |
False |
Immune system finding |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
CD4 T lymphocyte deficiency (disorder) |
Has definitional manifestation |
False |
Immune system finding |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Leucocyte adhesion deficiency - type 2 |
Has definitional manifestation |
False |
Immune system finding |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Autoimmune lymphoproliferative syndrome |
Has definitional manifestation |
False |
Immune system finding |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Mannose-binding lectin deficiency (disorder) |
Has definitional manifestation |
False |
Immune system finding |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Cryoglobulinemia due to chronic hepatitis C |
Has definitional manifestation |
False |
Immune system finding |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Idiopathic eosinophilic pneumonitis (disorder) |
Has definitional manifestation |
False |
Immune system finding |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Phagocytic immunodeficiency |
Has definitional manifestation |
False |
Immune system finding |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Periodontitis co-occurrent with Chédiak-Higashi syndrome |
Has definitional manifestation |
False |
Immune system finding |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Periodontitis co-occurrent with infantile genetic agranulocytosis |
Has definitional manifestation |
False |
Immune system finding |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Periodontitis co-occurrent with acquired neutropenia |
Has definitional manifestation |
False |
Immune system finding |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Cytokine-associated toxicity (disorder) |
Has definitional manifestation |
False |
Immune system finding |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Periodontitis co-occurrent with leukocyte adhesion deficiency |
Has definitional manifestation |
False |
Immune system finding |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Periodontitis co-occurrent with familial neutropenia |
Has definitional manifestation |
False |
Immune system finding |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Periodontitis co-occurrent with cyclical neutropenia |
Has definitional manifestation |
False |
Immune system finding |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Eosinophil peroxidase deficiency (disorder) |
Has definitional manifestation |
False |
Immune system finding |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Activated PI3K-delta syndrome |
Has definitional manifestation |
False |
Immune system finding |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Immunoglobulin G deficiency (disorder) |
Has definitional manifestation |
False |
Immune system finding |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Agranulocytosis co-occurrent with human immunodeficiency virus infection |
Has definitional manifestation |
False |
Immune system finding |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Severe combined immunodeficiency due to DCLRE1C deficiency |
Has definitional manifestation |
False |
Immune system finding |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Combined immunodeficiency due to Zeta-chain associated protein kinase 70 deficiency (disorder) |
Has definitional manifestation |
False |
Immune system finding |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome (disorder) |
Has definitional manifestation |
False |
Immune system finding |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Aggressive systemic mastocytosis (disorder) |
Has definitional manifestation |
False |
Immune system finding |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Severe combined immunodeficiency due to deoxyribonucleic acid dependent protein kinase catalytic subunit deficiency (disorder) |
Has definitional manifestation |
False |
Immune system finding |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
T-cell negative B-cell positive severe combined immunodeficiency due to JAK3 deficiency |
Has definitional manifestation |
False |
Immune system finding |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete interferon gamma receptor 1 (IFN-gammaR1) deficiency is a genetic variant of MSMD characterized by a complete deficiency in IFN-gammaR1, leading to impaired IFN-gamma immunity and, consequently, to severe and often fatal 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) |
|
Pyogenic bacterial infection due to deficiency of myeloid differentiation primary response 88 (disorder) |
Has definitional manifestation |
False |
Immune system finding |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Monoclonal B-cell lymphocytosis |
Has definitional manifestation |
False |
Immune system finding |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Telangiectasia, erythrocytosis, monoclonal gammopathy, perinephric fluid collections and intrapulmonary shunting syndrome (disorder) |
Has definitional manifestation |
False |
Immune system finding |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Primary immunodeficiency syndrome due to p14 deficiency (disorder) |
Has definitional manifestation |
False |
Immune system finding |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
X-linked severe congenital neutropenia (disorder) |
Has definitional manifestation |
False |
Immune system finding |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
X-linked intellectual disability with hypogammaglobulinemia and progressive neurological deterioration syndrome (disorder) |
Has definitional manifestation |
False |
Immune system finding |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
X-linked mendelian susceptibility to mycobacterial disease (disorder) |
Has definitional manifestation |
False |
Immune system finding |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Vici syndrome (disorder) |
Has definitional manifestation |
False |
Immune system finding |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
An exceedingly rare, autosomal recessive immune disease characterised by thumb aplasia, short stature with skeletal abnormalities, and combined immunodeficiency described in three sibships from two possibly related families. The skeletal abnormalities included unfused olecranon and the immunodeficiency manifested with severe chickenpox and chronic candidiasis. No new cases have been reported since 1978. |
Has definitional manifestation |
False |
Immune system finding |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
X-linked immunoneurologic disorder |
Has definitional manifestation |
False |
Immune system finding |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Immunodeficiency caused by long term therapeutic use of drug (disorder) |
Has definitional manifestation |
False |
Immune system finding |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Anti-human leukocyte antigen hyperimmunization (disorder) |
Has definitional manifestation |
False |
Immune system finding |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Attenuated Chédiak-Higashi syndrome (disorder) |
Has definitional manifestation |
False |
Immune system finding |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Severe combined immunodeficiency, microcephaly, growth retardation, sensitivity to ionising radiation syndrome |
Has definitional manifestation |
False |
Immune system finding |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia. |
Has definitional manifestation |
False |
Immune system finding |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Mendelian susceptibility to mycobacterial disease due to complete interleukin 12 receptor beta 1 deficiency (disorder) |
Has definitional manifestation |
False |
Immune system finding |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Mendelian susceptibility to mycobacterial disease due to complete interferon gamma receptor 2 deficiency (disorder) |
Has definitional manifestation |
False |
Immune system finding |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Mendelian susceptibility to mycobacterial disease due to complete interleukin 12 subunit beta deficiency |
Has definitional manifestation |
False |
Immune system finding |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome |
Has definitional manifestation |
False |
Immune system finding |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Lung fibrosis, immunodeficiency, 46,XX gonadal dysgenesis syndrome |
Has definitional manifestation |
False |
Immune system finding |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Severe T-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome |
Has definitional manifestation |
False |
Immune system finding |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Combined immunodeficiency due to calcium release activated calcium channel dysfunction (disorder) |
Has definitional manifestation |
False |
Immune system finding |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Autoimmune lymphoproliferative syndrome with recurrent viral infection (disorder) |
Has definitional manifestation |
False |
Immune system finding |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Severe combined immunodeficiency with hypereosinophilia (disorder) |
Has definitional manifestation |
False |
Immune system finding |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
A rare multiple congenital anomalies syndrome characterized by cutaneous mastocytosis, microcephaly, microtia and/or hearing loss, hypotonia and skeletal anomalies (e.g. clinodactyly, camptodactyly, scoliosis). Additional common features are short stature, intellectual disability and difficulties. Facial dysmorphism may include upslanted palpebral fissures, highly arched palate and micrognathia. Rarely, seizures and asymmetrically small feet have been reported. |
Has definitional manifestation |
False |
Immune system finding |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome |
Has definitional manifestation |
False |
Immune system finding |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Autoimmune enteropathy and endocrinopathy with susceptibility to chronic infection syndrome (disorder) |
Has definitional manifestation |
False |
Immune system finding |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Immunodeficiency due to mutation of FAS-associated protein with death domain gene (disorder) |
Has definitional manifestation |
False |
Immune system finding |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Mendelian susceptibility to mycobacterial disease due to complete ISG15 deficiency |
Has definitional manifestation |
False |
Immune system finding |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Mendelian susceptibility to mycobacterial disease due to partial interferon regulatory factor 8 deficiency (disorder) |
Has definitional manifestation |
False |
Immune system finding |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Mendelian susceptibility to mycobacterial disease due to partial signal transducer and activator of transcription 1 deficiency (disorder) |
Has definitional manifestation |
False |
Immune system finding |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Neutrophil immunodeficiency syndrome |
Has definitional manifestation |
False |
Immune system finding |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
RAS-associated autoimmune leukoproliferative disease (disorder) |
Has definitional manifestation |
False |
Immune system finding |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Simple cryoglobulinemia |
Has definitional manifestation |
False |
Immune system finding |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Immuno-osseous dysplasia (disorder) |
Has definitional manifestation |
False |
Immune system finding |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Schimke immuno-osseous dysplasia |
Has definitional manifestation |
False |
Immune system finding |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Pyogenic arthritis, pyoderma gangrenosum, acne syndrome (disorder) |
Has definitional manifestation |
False |
Immune system finding |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
Hepatic veno-occlusive disease with immunodeficiency syndrome (disorder) |
Has definitional manifestation |
False |
Immune system finding |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|