|
CLN8 disease, late infantile (subtype)
|
12391 |
|
|
polymicrogyria, symmetric or asymmetric
|
12399 |
|
|
polymicrogyria, symmetric or asymmetric; PMGYSA
|
http://purl.obolibrary.org/obo/MONDO_0012399 |
|
|
neuronal ceroid lipofuscinosis 8
|
12391 |
|
|
neuronal ceroid lipofuscinosis 8 northern epilepsy variant
|
12391 |
|
|
neuronal ceroid lipofuscinosis, Northern epilepsy variant
|
12391 |
|
|
ceroid lipofuscinosis neuronal 8
|
12391 |
|
|
ceroid lipofuscinosis, neuronal, 8, NORTHERN epilepsy variant
|
12391 |
|
|
colobomatous macrophthalmia-microcornea syndrome
|
11239 |
|
|
cataract, autosomal recessive congenital 2
|
12395 |
|
|
GDF5 multiple synostoses syndrome
|
12394 |
|
|
multiple synostoses syndrome 2
|
12394 |
|
|
multiple synostoses syndrome 2; SYNS2
|
http://purl.obolibrary.org/obo/MONDO_0012394 |
|
|
multiple synostoses syndrome caused by mutation in GDF5
|
12394 |
|
|
inherited glutamine synthetase deficiency
|
12393 |
|
