loading...| Preferred Name |
immunodeficiency 43 |
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| Synonyms |
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| Definitions |
A primary immunodeficiency disease characterized by recurrent infections, reduced serum concentrations of immunoglobulin G and albumin due to rapid degradation of these proteins, abnormal renal or liver function, and excessive gastrointestinal protein that has_material_basis_in homozygous or compound heterozygous mutation in B2M on chromosome 15q21.1. |
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| ID |
http://purl.obolibrary.org/obo/DOID_0111981 |
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| definition |
A primary immunodeficiency disease characterized by recurrent infections, reduced serum concentrations of immunoglobulin G and albumin due to rapid degradation of these proteins, abnormal renal or liver function, and excessive gastrointestinal protein that has_material_basis_in homozygous or compound heterozygous mutation in B2M on chromosome 15q21.1. |
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| imported from | ||
| label |
immunodeficiency 43 |
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| prefixIRI |
DOID:0111981 |
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| prefLabel |
immunodeficiency 43 |
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| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.obolibrary.org/obo/DOID_0111981 | DOID | SAME_URI | |
| http://purl.obolibrary.org/obo/DOID_0111981 | DDSS | SAME_URI | |
| http://purl.obolibrary.org/obo/DOID_0111981 | HHEAR | SAME_URI | |
| http://purl.obolibrary.org/obo/DOID_0111981 | NIFSTD | SAME_URI | |
| http://purl.obolibrary.org/obo/DOID_0111981 | DOID | LOOM | |
| http://purl.obolibrary.org/obo/DOID_0111981 | DDSS | LOOM | |
| http://purl.bioontology.org/ontology/OMIM/241600 | OMIM | LOOM | |
| http://purl.obolibrary.org/obo/DOID_0111981 | HHEAR | LOOM | |
| http://purl.obolibrary.org/obo/DOID_0111981 | NIFSTD | LOOM |