Disease #02315 (SCIDB (immunodeficiency, severe combined, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative), OMIM:600802)

Official abbreviation SCIDB
Name immunodeficiency, severe combined, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative
OMIM ID 600802
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 1
Phenotype entries for this disease 1
Associated with 1 gene JAK3
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

1 entry on 1 page. Showing entry 1.
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00150106 - - - F yes Turkey Turkısh 00y06m - - - SCIDB - JAK3 JAK3 1 1 Sinem Firtina
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