|
subtelomeric deletion 13q34
|
19902 |
|
|
congenital hypogammaglobulinemia (finding)
|
1902 |
|
|
limb-girdle, type 2e muscular dystrophy
|
C535902 |
|
|
mitochondrial complex 1 deficiency, nuclear type 36
|
30902 |
|
|
apparent mineralocorticoid EXCESS
|
9025 |
|
|
apparent mineralocorticoid EXCESS; AME
|
http://purl.obolibrary.org/obo/MONDO_0009025 |
|
|
autosomal recessive MSMD due to partial IFNgammaR2 deficiency
|
17902 |
|
|
corneal dystrophy Groenouw type II
|
9020 |
|
|
autosomal recessive MSMD due to partial interferon gamma receptor 2 deficiency
|
17902 |
|
