loading...| Preferred Name | severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency | |
| Synonyms |
adenosine deaminase deficiency, partial severe combined immunodeficiency due to ADA deficiency SCID due to ADA deficiency, delayed onset severe combined immunodeficiency due to adenosine deaminase deficiency partial ADA deficiency SCID due to ADA deficiency, late-onset severe combined immunodeficiency due to ADA deficiency, Autosomal recessive, Somatic mosaicism adenosine deaminase deficiency, partial, Autosomal recessive, Somatic mosaicism ADA deficiency adenosine deaminase deficient severe combined immunodeficiency SCID due to adenosine deaminase deficiency severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency SCID due to ADA deficiency, early-onset SCID due to ADA deficiency adenosine deaminase deficiency ADA ADA-SCID |
|
| 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 |
NANDO:1200323 MedDRA:10066367 CSP:1560-6660 MESH:C531816 OMIM:102700 SCTID:44940001 UMLS:C1863236 Orphanet:277 NANDO:2200696 MEDGEN:354935 DOID:5810 GARD:5748 ICD9:277.2 NCIT:C3962 |
|
| 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://linkedlifedata.com/resource/umls/id/C1863236 http://www.orpha.net/ORDO/Orphanet_277 http://purl.obolibrary.org/obo/NCIT_C3962 http://identifiers.org/snomedct/44940001 http://identifiers.org/medgen/354935 |
|
| has_exact_synonym |
severe combined immunodeficiency due to ADA deficiency, Autosomal recessive, Somatic mosaicism adenosine deaminase deficiency, partial, Autosomal recessive, Somatic mosaicism ADA deficiency adenosine deaminase deficient severe combined immunodeficiency SCID due to adenosine deaminase deficiency severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency SCID due to ADA deficiency, early-onset SCID due to ADA deficiency adenosine deaminase deficiency ADA ADA-SCID |
|
| has_related_synonym |
adenosine deaminase deficiency, partial severe combined immunodeficiency due to ADA deficiency SCID due to ADA deficiency, delayed onset severe combined immunodeficiency due to adenosine deaminase deficiency partial ADA deficiency SCID due to ADA deficiency, late-onset |
|
| IAO_0000233 | ||
| id |
MONDO:0007064 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo#ordo_disorder http://purl.obolibrary.org/obo/mondo#rare http://purl.obolibrary.org/obo/mondo#nord_rare http://purl.obolibrary.org/obo/mondo#orphanet_rare http://purl.obolibrary.org/obo/mondo#otar |
|
| label |
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency |
|
| notation |
MONDO:0007064 |
|
| preferred label |
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency |
|
| prefLabel |
severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency |
|
| see also |
https://rarediseases.info.nih.gov/diseases/5748/adenosine-deaminase-deficiency |
|
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0017855 |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.obolibrary.org/obo/MONDO_0007064 | MONDO | 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 | MONDO | 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 |