autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency
somatic mutation in the CTLA4 gene resulting in only a single functional gene. Haploinsufficiency for CTLA4 is associated with autoimmune lymphoproliferative syndrome, type V
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autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency
Summary
autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency is a rare disease[1].
Key Facts
- autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency's instance of is recorded as rare disease[2].
- autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency's instance of is recorded as class of disease[3].
- autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency's subclass of is recorded as disease[4].
- autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency's OMIM ID is recorded as 616100[5].
- autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency's Orphanet ID is recorded as 436159[6].
- autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency's NCI Thesaurus ID is recorded as C126341[7].
- autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency's genetic association is recorded as CTLA4[8].
- autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_436159[9].
- autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency's UMLS CUI is recorded as C4015214[10].
- autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency's ICD-10-CM is recorded as D47.9[11].
- autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency's GARD rare disease ID is recorded as 12316[12].
- autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency's Mondo ID is recorded as MONDO_0014493[13].