Phenotypes for disease #04516 (IMD-30 (immunodeficiency, type 30 (IMD-30)), OMIM:614891)

172 entries on 2 pages. Showing entries 1 - 100.
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AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     

Individual ID     
0000199362 IMD30, IL-12RB1 deficiency, MSMD - - Familial, autosomal recessive - - - - - Enrique Medina-Acosta 00260830
0000199483 IMD30, IL-12RB1 deficiency, MSMD - - Familial, autosomal recessive - - - - - Enrique Medina-Acosta 00260950
0000199484 IMD30, IL-12RB1 deficiency, MSMD - - Familial, autosomal recessive - - - - - Enrique Medina-Acosta 00260951
0000199485 - - - Familial, autosomal recessive - - - - - LOVD 00260952
0000199486 Disseminated BCG, Candida infection - - Familial, autosomal recessive - - - - - LOVD 00260953
0000199487 localized BCG infection - - Familial, autosomal recessive - - - - - LOVD 00260954
0000199488 - - - Familial, autosomal recessive - - - - - LOVD 00260955
0000199489 M.bovis BCG infection - - Familial, autosomal recessive - - - - - LOVD 00260956
0000199490 salmonella infection - - Familial, autosomal recessive - - - - - LOVD 00260957
0000199491 BCG infection - - Familial, autosomal recessive - - - - - LOVD 00260958
0000199492 IMD30, IL12RB1 deficiency, MSMD - - Familial, autosomal recessive - - - - - LOVD 00260959
0000199493 IMD30, IL12RB1 deficiency, MSMD - - Familial, autosomal recessive - - - - - LOVD 00260960
0000199494 IMD30, IL12RB1, MSMD - - Familial, autosomal recessive - - - - - LOVD 00260961
0000199495 IMD30, IL12RB1 deficiency, MSMD - - Familial, autosomal recessive - - - - - LOVD 00260962
0000199496 - - - Familial, autosomal recessive - - - - - LOVD 00260963
0000199497 - - - Familial, autosomal recessive - - - - - LOVD 00260964
0000199498 - - - Familial, autosomal recessive - - - - - LOVD 00260965
0000199499 - - - Familial, autosomal recessive - - - - - LOVD 00260966
0000199500 - - - Familial, autosomal recessive - - - - - LOVD 00260967
0000199501 - - - Familial, autosomal recessive - - - - - LOVD 00260968
0000199502 - - - Familial, autosomal recessive - - - - - Esther van de Vosse 00260969
0000199503 - - - Familial, autosomal recessive - - - - - LOVD 00260970
0000199504 BCG infection and CMC - - Familial, autosomal recessive - - - - - LOVD 00260971
0000199505 - - - Familial, autosomal recessive - - - - - LOVD 00260972
0000199506 BCG infection and Salmonella - - Familial, autosomal recessive - - - - - LOVD 00260973
0000199507 - - - Familial, autosomal recessive - - - - - LOVD 00260975
0000199508 - - - Familial, autosomal recessive - - - - - LOVD 00260976
0000199509 - - - Familial, autosomal recessive - - - - - LOVD 00260977
0000199510 - - - Familial, autosomal recessive - - - - - LOVD 00260978
0000199511 BCGosis - - Familial, autosomal recessive - - - - - LOVD 00260979
0000199512 - - - Familial, autosomal recessive - - - - - LOVD 00260980
0000199513 - - - Familial, autosomal recessive - - - - - LOVD 00260981
0000199514 - - - Familial, autosomal recessive - - - - - Esther van de Vosse 00260982
0000199515 - - - Familial, autosomal recessive - - - - - LOVD 00260983
0000199516 - - - Familial, autosomal recessive - - - - - LOVD 00260984
0000199517 - - - Familial, autosomal recessive - - - - - LOVD 00260985
0000199518 Tuberculosis - - Familial, autosomal recessive - - - - - LOVD 00260986
0000199519 - - - Familial, autosomal recessive - - - - - LOVD 00260987
0000199520 - - - Familial, autosomal recessive - - - - - LOVD 00260988
0000199521 - - - Familial, autosomal recessive - - - - - LOVD 00260989
0000199522 - - - Familial, autosomal recessive - - - - - LOVD 00260990
0000199523 - - - Familial, autosomal recessive - - - - - LOVD 00260991
0000199524 - - - Familial, autosomal recessive - - - - - LOVD 00260992
0000199525 - - - Familial, autosomal recessive - - - - - Esther van de Vosse 00260993
0000199526 - - - Familial, autosomal recessive - - - - - LOVD 00260994
0000199527 - - - Familial, autosomal recessive - - - - - LOVD 00260995
0000199528 - - - Familial, autosomal recessive - - - - - Esther van de Vosse 00260996
0000199529 - - - Familial, autosomal recessive - - - - - LOVD 00260997
0000199530 - - - Familial, autosomal recessive - - - - - LOVD 00260998
0000199531 M.bovis BCG infection - - Familial, autosomal recessive - - - - - LOVD 00260999
0000199532 IMD30, IL12RB1 deficiency, MSMD - - Familial, autosomal recessive - - - - - LOVD 00261000
0000199533 IMD30, IL12RB1 deficiency, MSMD - - Familial, autosomal recessive - - - - - LOVD 00261001
0000199534 IMD30, IL12RB1 deficiency, MSMD - - Familial, autosomal recessive - - - - - LOVD 00261002
0000199535 - - - Familial, autosomal recessive - - - - - LOVD 00261003
0000199536 - - - Familial, autosomal recessive - - - - - LOVD 00261004
0000199537 - - - Familial, autosomal recessive - - - - - LOVD 00261005
0000199538 - - - Familial, autosomal recessive - - - - - LOVD 00261006
0000199539 - - - Familial, autosomal recessive - - - - - LOVD 00261007
0000199540 disseminated BCG - - Familial, autosomal recessive - - - - - LOVD 00261008
0000199541 - - - Familial, autosomal recessive - - - - - LOVD 00261009
0000199542 - - - Familial, autosomal recessive - - - - - LOVD 00261010
0000199543 Salmonellosis - - Familial, autosomal recessive - - - - - LOVD 00261011
0000199544 BCGitis and CMC - - Familial, autosomal recessive - - - - - LOVD 00261012
0000199545 - - - Familial, autosomal recessive - - - - - Esther van de Vosse 00261013
0000199546 - - - Familial, autosomal recessive - - - - - LOVD 00261014
0000199547 BCG infection - - Familial, autosomal recessive - - - - - LOVD 00261015
0000199548 - - - Familial, autosomal recessive - - - - - LOVD 00261016
0000199549 - - - Familial, autosomal recessive - - - - - LOVD 00261017
0000199550 - - - Familial, autosomal recessive - - - - - LOVD 00261018
0000199551 - - - Familial, autosomal recessive - - - - - LOVD 00261019
0000199552 - - - Familial, autosomal recessive - - - - - LOVD 00261020
0000199553 - - - Familial, autosomal recessive - - - - - Esther van de Vosse 00261021
0000199554 - - - Familial, autosomal recessive - - - - - LOVD 00261022
0000199555 - - - Familial, autosomal recessive - - - - - LOVD 00261023
0000199556 - - - Familial, autosomal recessive - - - - - LOVD 00261024
0000199557 - - - Familial, autosomal recessive - - - - - LOVD 00261025
0000199558 - - - Familial, autosomal recessive - - - - - LOVD 00261026
0000199559 Salmonellosis + CMC (+ probably mycobacterial lymphadenitis) - - Familial, autosomal recessive - - - - - LOVD 00261027
0000199560 - - - Familial, autosomal recessive - - - - - LOVD 00261028
0000199561 - - - Familial, autosomal recessive - - - - - LOVD 00261029
0000199562 - - - Familial, autosomal recessive - - - - - LOVD 00261030
0000199563 - - - Familial, autosomal recessive - - - - - LOVD 00261031
0000199564 M.genavense infection - - Familial, autosomal recessive - - - - - LOVD 00261032
0000199565 - - - Familial, autosomal recessive - - - - - LOVD 00261033
0000199566 - - - Familial, autosomal recessive - - - - - LOVD 00261034
0000199567 - - - Familial, autosomal recessive - - - - - LOVD 00261035
0000199568 - - - Familial, autosomal recessive - - - - - LOVD 00261036
0000199569 - - - Familial, autosomal recessive - - - - - LOVD 00261037
0000199570 - - - Familial, autosomal recessive - - - - - Esther van de Vosse 00261038
0000199571 - - - Familial, autosomal recessive - - - - - Esther van de Vosse 00261039
0000199572 - - - Familial, autosomal recessive - - - - - LOVD 00261040
0000199573 - - - Familial, autosomal recessive - - - - - Esther van de Vosse 00261041
0000199574 - - - Familial, autosomal recessive - - - - - LOVD 00261042
0000199575 - - - Familial, autosomal recessive - - - - - LOVD 00261043
0000199576 - - - Familial, autosomal recessive - - - - - LOVD 00261044
0000199577 - - - Familial, autosomal recessive - - - - - LOVD 00261045
0000199578 Cutaneous Leukocytoclastic Vasculitis due to Salmonella enteritidis - - Familial, autosomal recessive - - - - - LOVD 00261046
0000199579 BCG and salmonellosis, recurrent vasculitis - - Familial, autosomal recessive - - - - - LOVD 00261047
0000199580 - - - Familial, autosomal recessive - - - - - LOVD 00261048
0000199581 M.bovis BCG infection (check) - - Familial, autosomal recessive - - - - - LOVD 00261049
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