| Inbound Relationships |
Type |
Active |
Source |
Characteristic |
Refinability |
Group |
| Keratitis fugax hereditaria |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| 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. |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| PAPASH syndrome |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| PASS syndrome |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| A rare autoinflammatory syndrome with characteristics of the combination of psoriatic arthritis, pyoderma gangrenosum, acne, and suppurative hidradenitis (which, in addition to axillae and inguinal folds, can be observed in other areas, such as the buttocks or labia majora). |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Pancytopenia caused by antidiabetic drug (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
7 |
| Combined immunodeficiency due to FCHO1 deficiency |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Developmental delay, immunodeficiency, leucoencephalopathy, hypohomocysteinemia syndrome |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| 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. |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Posterior cord syndrome due to multiple sclerosis (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Posterior cord syndrome due to multiple sclerosis (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Acute on chronic graft versus host disease following transplant of kidney (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Coagulation factor XII-associated cold autoinflammatory syndrome (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Autosomal dominant combined immunodeficiency due to Aiolos deficiency |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Autosomal recessive T-cell negative, B-cell positive severe combined immunodeficiency due to CD3 delta subunit of T-cell receptor complex mutation (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Autosomal recessive T-cell negative, B-cell positive severe combined immunodeficiency due to CD3 epsilon subunit of T-cell receptor complex mutation (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Autosomal recessive T- B+ severe combined immunodeficiency due to CD3Z mutation |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Autosomal recessive T-cell negative, B-cell positive severe combined immunodeficiency due to SLP76 mutation (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Autosomal dominant T-cell negative, B-cell negative severe combined immunodeficiency due to activated RAC2 defect |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Autosomal recessive combined immunodeficiency due to ICOS deficiency |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Autosomal recessive combined immunodeficiency due to inducible T-cell costimulator ligand deficiency (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Autosomal recessive common variable immunodeficiency due to CD81 deficiency (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Common variable immunodeficiency due to transmembrane activator and calcium-modulator and cyclophilin ligand interactor deficiency (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Hyperimmunoglobulin E syndrome |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Autosomal dominant combined immunodeficiency due to ERBIN deficiency |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Autosomal dominant combined immunodeficiency due to partial interleukin 6 cytokine family signal transducer deficiency (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Autosomal dominant hyperimmunoglobulin E syndrome due to signal transducer and activator of transcription 3 protein deficiency (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Autosomal recessive combined immunodeficiency due to IL6R deficiency |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Autosomal recessive combined immunodeficiency due to complete interleukin 6 cytokine family signal transducer deficiency (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| Autosomal recessive combined immunodeficiency due to partial IL6ST deficiency |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Netherton syndrome (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Autosomal recessive combined immunodeficiency due to DNA polymerase delta 1 catalytic subunit mutation (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Autosomal recessive combined immunodeficiency due to DNA polymerase delta 2 accessory subunit mutation (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Autosomal recessive combined immunodeficiency due to MCM10 deficiency |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Immunodeficiency by defective expression of major histocompatibility complex class I due to beta-2-microglobulin mutation (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Major histocompatibility complex class I deficiency due to TAP1 mutation |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Immunodeficiency by defective expression of major histocompatibility complex class I due to transporter 2, ATP binding cassette subfamily B member mutation (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Immunodeficiency by defective expression of major histocompatibility complex class I due to TAP binding protein mutation (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Immunodeficiency by defective expression of major histocompatibility complex class II due to regulatory factor X associated protein mutation (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Immunodeficiency by defective expression of major histocompatibility complex class II due to class II major histocompatibility complex transactivator mutation (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Immunodeficiency by defective expression of major histocompatibility complex class II due to regulatory factor X associated ankyrin containing protein mutation (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Major histocompatibility complex class II deficiency due to RFX5 mutation |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Autosomal recessive hyperimmunoglobulin M syndrome due to uracil DNA glycosylase deficiency (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Autosomal dominant hyperimmunoglobulin M syndrome due to AID deficiency |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Hyperimmunoglobulin M syndrome without susceptibility to opportunistic infection (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Autosomal recessive hyperimmunoglobulin M syndrome due to activation induced cytidine deaminase deficiency (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Autosomal recessive hyperimmunoglobulin M syndrome due to APRIL deficiency (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Autosomal recessive hyperimmunoglobulin M syndrome due to catenin beta like 1deficiency (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Autosomal recessive hyperimmunoglobulin M syndrome due to MSH6 deficiency |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Autosomal recessive hyperimmunoglobulin M syndrome due to INO80 complex ATPase subunit deficiency (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Severe combined immunodeficiency due to BCL11 transcription factor B deficiency (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
| X-linked common variable immunodeficiency due to SH3 domain containing kinase binding protein 1 deficiency (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Autosomal recessive combined immunodeficiency with multiple intestinal atresias (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Autosomal dominant agammaglobulinemia due to PU.1 deficiency |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Autosomal recessive agammaglobulinaemia due to FNIP1 deficiency |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Autosomal recessive combined immunodeficiency due to RELB proto-oncogene, NF-kB subunit mutation (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| X-linked combined immunodeficiency due to SASH3 deficiency |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Autosomal recessive combined immunodeficiency due to COPI coat complex subunit gamma 1 deficiency (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Autosomal recessive agammaglobulinaemia due to lambda 5 deficiency |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Autosomal recessive agammaglobulinemia due to immunoglobulin heavy chain mu constant region deficiency (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Autosomal recessive agammaglobulinemia due to E47 transcription factor deficiency (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Autosomal dominant agammaglobulinaemia due to E47 transcription factor deficiency |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Autosomal recessive agammaglobulinemia |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Autosomal recessive agammaglobulinemia due to SLC39A7 deficiency |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Autosomal recessive agammaglobulinemia due to p110 delta deficiency (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Autosomal recessive agammaglobulinemia due to BLNK deficiency |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Autosomal recessive agammaglobulinemia due to p85 deficiency |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Autosomal recessive agammaglobulinemia due to immunoglobulin beta deficiency (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Autosomal recessive agammaglobulinaemia due to immunoglobulin alpha deficiency |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Autosomal recessive combined immunodeficiency due to CD28 mutation |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Autosomal recessive combined immunodeficiency due to Wiskott Aldrich syndrome protein-interacting protein deficiency (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Autosomal recessive combined immunodeficiency due to Arp2/3-mediated filament branching defect (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Autosomal dominant combined immunodeficiency due to STAT5b mutation |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Autosomal recessive combined immunodeficiency due to REL mutation |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Autosomal recessive combined immunodeficiency due to BCL10 immune signaling adaptor mutation (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Autosomal recessive combined immunodeficiency due to component of inhibitor of nuclear factor kappa B kinase complex mutation (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Combined immunodeficiency due to IKAROS family zinc finger 2 mutation (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Autosomal recessive combined immunodeficiency due to ITPKB mutation |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Autosomal recessive combined immunodeficiency due to paired box 1 mutation (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Brown-Séquard syndrome due to multiple sclerosis |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Brown-Séquard syndrome due to multiple sclerosis |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Familial hyperinflammatory lymphoproliferative immunodeficiency (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Combined immunodeficiency due to caspase recruitment domain family member 11 protein deficiency (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Autosomal recessive combined immunodeficiency due to MAN2B2 mutation |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Autosomal recessive common variable immunodeficiency due to membrane spanning 4-domains A1 mutation (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Autosomal recessive common variable immunodeficiency due to CD21 mutation |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Autosomal recessive combined variable immunodeficiency due to B cell-activating factor receptor mutation (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Autosomal dominant combined variable immunodeficiency due to tumor necrosis factor-like weak inducer of apoptosis mutation (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Autosomal dominant combined variable immunodeficiency due to NFKB1 mutation |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Autosomal dominant combined variable immunodeficiency due to interferon regulatory factor 2 binding protein 2 mutation (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Autosomal recessive combined variable immunodeficiency due to Rho guanine nucleotide exchange factor 1 mutation (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Autosomal dominant combined variable immunodeficiency due to SEC61A1 mutation |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Autosomal recessive combined variable immunodeficiency due to PIK3CG mutation |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Autosomal recessive common variable immunodeficiency due to POU class 2 homeobox associating factor 1 mutation (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Autosomal recessive deoxyribonucleic acid repair defect due to DNA polymerase epsilon 2, accessory subunit deficiency (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Anhidrotic ectodermal dysplasia with immune deficiency due to IKBA gain of function mutation |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Autosomal recessive deoxyribonucleic acid repair defect due to DNA ligase 1 deficiency (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
| Progressive microcephaly, seizures, cortical blindness, developmental delay with combined immunodeficiency due to diaphanous related formin 1 mutation (disorder) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
| Lung disease, immunodeficiency, chromosome breakage syndrome |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
| Pulmonary eosinophilic infiltration |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
| Eosinophil infiltration of liver (finding) |
Pathological process (attribute) |
True |
Abnormal immune process (qualifier value) |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
FHIR
© HL7.org
|
Server Home |
FHIR Server FHIR Server 3.7.4-SNAPSHOT
|
FHIR Version n/a
User: [n/a]