|
sagittal craniosynostosis, dandy-walker malformation, and hydrocephalus
|
C536790 |
|
|
yemenite (warburg) deaf-blind hypopigmentation syndrome
|
C536771 |
|
|
x-linked immunoneurologic disorder
|
C536743 |
|
|
pachygyria joint contractures facial abnormalities
|
C536712 |
|
|
benign hyperostosis corticalis generalisata
|
C536748 |
|
|
angiomatosis, diffuse corticomeningeal, of divry and van bogaert
|
C536367 |
|
|
Zeta-associated-protein 70 deficiency
|
C536722 |
|
|
carnitine uptake deficiency
|
C536778 |
|
|
systemic carnitine deficiency
|
C536778 |
|
|
type 4 ectodermal dysplasia
|
C536726 |
|
|
multiple mitochondrial dysfunctions syndrome 2
|
13675 |
|
|
multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia
|
13675 |
|
|
multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia; MMDS2
|
http://purl.obolibrary.org/obo/MONDO_0013675 |
|
|
multiple mitochondrial dysfunctions syndrome 2; MMDS2
|
http://purl.obolibrary.org/obo/MONDO_0013675 |
|
|
multiple mitochondrial dysfunctions syndrome type 2
|
13675 |
|
