loading...| Preferred Name | severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency | |
| Synonyms |
SCID due to ADA deficiency, delayed onset severe combined immunodeficiency due to adenosine deaminase deficiency adenosine deaminase deficiency, partial partial ADA deficiency severe combined immunodeficiency due to ADA deficiency SCID due to ADA deficiency, late-onset adenosine deaminase deficient severe combined immunodeficiency SCID due to ADA deficiency adenosine deaminase deficiency, partial, Autosomal recessive, Somatic mosaicism ADA deficiency adenosine deaminase deficiency ADA severe combined immunodeficiency due to ADA deficiency, Autosomal recessive, Somatic mosaicism severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency SCID due to adenosine deaminase deficiency SCID due to ADA deficiency, early-onset ADA-SCID |
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| Definitions |
A form of SCID characterized by profound lymphopenia and very low immunoglobulin levels of all isotypes resulting in severe and recurrent opportunistic infections. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0007064 |
|
| closeMatch | ||
| database_cross_reference |
OMIM:102700 ICD9:277.2 DOID:5810 GARD:5748 CSP:1560-6660 SCTID:44940001 Orphanet:277 NCIT:C3962 MESH:C531816 MedDRA:10066367 |
|
| definition |
A form of SCID characterized by profound lymphopenia and very low immunoglobulin levels of all isotypes resulting in severe and recurrent opportunistic infections. |
|
| exactMatch |
http://identifiers.org/mesh/C531816 http://purl.obolibrary.org/obo/Orphanet_277 http://purl.obolibrary.org/obo/NCIT_C3962 http://identifiers.org/snomedct/44940001 |
|
| has material basis in germline mutation in | ||
| has_exact_synonym |
adenosine deaminase deficient severe combined immunodeficiency SCID due to ADA deficiency adenosine deaminase deficiency, partial, Autosomal recessive, Somatic mosaicism ADA deficiency adenosine deaminase deficiency ADA severe combined immunodeficiency due to ADA deficiency, Autosomal recessive, Somatic mosaicism severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency SCID due to adenosine deaminase deficiency SCID due to ADA deficiency, early-onset ADA-SCID |
|
| has_related_synonym |
SCID due to ADA deficiency, delayed onset severe combined immunodeficiency due to adenosine deaminase deficiency adenosine deaminase deficiency, partial partial ADA deficiency severe combined immunodeficiency due to ADA deficiency SCID due to ADA deficiency, late-onset |
|
| IAO_0000233 | ||
| id |
MONDO:0007064 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo#ordo_disease http://purl.obolibrary.org/obo/mondo#rare http://purl.obolibrary.org/obo/mondo#nord_rare http://purl.obolibrary.org/obo/mondo#orphanet_rare |
|
| label |
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency |
|
| notation |
MONDO:0007064 |
|
| prefLabel |
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency |
|
| seeAlso |
https://rarediseases.info.nih.gov/diseases/5748/adenosine-deaminase-deficiency |
|
| treeView |
http://purl.obolibrary.org/obo/MONDO_0017855 |
|
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0017855 |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.obolibrary.org/obo/MONDO_0007064 | EFO | SAME_URI | |
| http://purl.obolibrary.org/obo/MONDO_0007064 | DOVES | SAME_URI | |
| http://purl.bioontology.org/ontology/OMIM/102700 | OMIM | LOOM | |
| http://purl.obolibrary.org/obo/MONDO_0007064 | EFO | LOOM | |
| http://purl.obolibrary.org/obo/MONDO_0007064 | DOVES | LOOM | |
| http://identifiers.org/omim/102700 | REXO | LOOM | |
| http://identifiers.org/omim/102700 | GEXO | LOOM | |
| http://identifiers.org/omim/102700 | RETO | LOOM | |
| http://purl.obolibrary.org/obo/OMIM_102700 | CCO | LOOM |