loading...| Preferred Name |
immunodeficiency 43 |
|
| Synonyms |
hypercatabolic hypoproteinemia B2M deficiency beta-2-microglobulin deficiency IMD43 |
|
| 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. |
|
| ID |
http://purl.obolibrary.org/obo/DOID_0111981 |
|
| alternative label |
hypercatabolic hypoproteinemia B2M deficiency beta-2-microglobulin deficiency IMD43 |
|
| database_cross_reference |
MESH:C565476 OMIM:241600 |
|
| 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. |
|
| has exact synonym |
hypercatabolic hypoproteinemia B2M deficiency beta-2-microglobulin deficiency IMD43 |
|
| has material basis in | ||
| has_obo_namespace |
disease_ontology |
|
| id |
DOID:0111981 |
|
| label |
immunodeficiency 43 |
|
| notation |
DOID:0111981 |
|
| note |
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. |
|
| preferred label |
immunodeficiency 43 |
|
| prefLabel |
immunodeficiency 43 |
|
| textual 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. |
|
| 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 | NIFSTD | SAME_URI | |
| http://purl.obolibrary.org/obo/DOID_0111981 | FNS-H | 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 | NIFSTD | LOOM | |
| http://purl.obolibrary.org/obo/DOID_0111981 | FNS-H | LOOM |