|
chylomicronemia, familial, due to circulating inhibitor of lipoprotein lipase
|
7327 |
|
|
hemolytic anemia due to glucophosphate isomerase deficiency
|
13275 |
|
|
ALX1-related frontonasal dysplasia
|
13271 |
|
|
congenital hypotonia, epilepsy, developmental delay, and digital anomalies
|
32781 |
|
|
chromosome 16p13.3 duplication
|
13273 |
|
|
interstitial 16p13.3 duplication
|
13273 |
|
|
chromosome 16p13.3 duplication syndrome
|
13273 |
|
|
macular corneal dystrophy, type II
|
C563270 |
|
|
malignant middle ear neoplasm
|
3275 |
|
|
malignant internal ear neoplasm
|
3278 |
|
|
epileptic encephalopathy, early infantile, 5
|
13277 |
|
|
epileptic encephalopathy, early infantile, 5; EIEE5
|
http://purl.obolibrary.org/obo/MONDO_0013277 |
|
|
epileptic encephalopathy, early infantile, 72
|
32710 |
|
|
epileptic encephalopathy, early infantile, 74
|
32725 |
|
