|
disease with Cushing syndrome as a major feature
|
http://purl.obolibrary.org/obo/MONDO_0017820 |
|
|
obsolete vitamin D deficiency
|
20578.0 |
|
|
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 71
|
32789 |
|
|
syndrome with DSD of gynecological interest
|
http://purl.obolibrary.org/obo/MONDO_0017978 |
|
|
hyperthyroxinemia, dystransthyretinemic; DTTRH
|
http://purl.obolibrary.org/obo/MONDO_0007785 |
|
|
chromosome 8q22.1 DUPLICATION syndrome
|
7894 |
|
|
ophthalmoplegia, pigmentary Degeneration of retina, and cardiomyopathy
|
10787 |
|
|
chromosome 2P25.3 Duplication syndrome
|
14678 |
|
|
AD hyperimmunoglobulin E syndrome
|
7818 |
|
|
AR hyperimmunoglobulin E syndrome
|
9478 |
|
|
hyper Ig E syndrome, autosomal dominant
|
7818 |
|
