|
holzgreve wagner rehder syndrome
|
C535327 |
|
|
goniodysgenesis mental retardation short stature
|
23272.0 |
|
|
leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate
|
32716 |
|
|
partial, with rieger anomaly, and short stature lipodystrophy
|
C537327 |
|
|
malignant thoracic segment of trunk neoplasm
|
3274 |
|
|
ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features
|
32798 |
|
|
mixed epithelial stromal tumor
|
3272 |
|
|
mixed epithelial stromal tumour
|
3272 |
|
|
14q11.2 microdeletion syndrome
|
13272 |
|
|
16p13.3 microduplication syndrome
|
13273 |
|
|
long QT syndrome 13; LQT13
|
http://purl.obolibrary.org/obo/MONDO_0013279 |
|
|
long QT syndrome caused by mutation in KCNJ5
|
13279 |
|
