|
hyperekplexia, hereditary 1; HKPX1
|
http://purl.obolibrary.org/obo/MONDO_0007868 |
|
|
KABUKI syndrome 1; KABUK1
|
http://purl.obolibrary.org/obo/MONDO_0007843 |
|
|
LEOPARD syndrome 1; LPRD1
|
http://purl.obolibrary.org/obo/MONDO_0007893 |
|
|
pseudohypoparathyroidism type 1A
|
7078 |
|
|
pseudohypoparathyroidism, type 1A
|
7078 |
|
|
lymphedema, hereditary, 1C
|
13278 |
|
|
meconium ileus 1N cystic fibrosis, susceptibility to
|
http://purl.obolibrary.org/obo/MONDO_0011378 |
|
|
multisystem Proteinopathy 2
|
14178 |
|
|
Euthryroidal hyperthyroxinemia 2
|
7785 |
|
