|
11-beta-hydroxysteroid dehydrogenase deficiency type 2
|
9025 |
|
|
11 Beta-hydroxysteroid dehydrogenase type 2 deficiency
|
9025 |
|
|
Charcot-Marie-Tooth disease, demyelinating, type 1F
|
11902 |
|
|
Charcot-Marie-Tooth disease, demyelinating, type 1F; CMT1F
|
http://purl.obolibrary.org/obo/MONDO_0011902 |
|
|
cortical blindness-intellectual disability-polydactyly syndrome
|
9024 |
|
|
aortic valve disease 2; AOVD2
|
http://purl.obolibrary.org/obo/MONDO_0013902 |
|
|
aortic valve disease caused by mutation in SMAD6
|
13902 |
|
|
NEFL Charcot-Marie-Tooth disease type 1
|
11902 |
|
|
aortic valve disease type 2
|
13902 |
|
|
pediatric autoimmune disorders associated with Streptococcus infections
|
19020 |
|
|
deafness, autosomal dominant 27
|
12902 |
|
|
deafness, autosomal dominant 27; DFNA27
|
http://purl.obolibrary.org/obo/MONDO_0012902 |
|
|
segmental odontomaxillary dysplasia
|
19029 |
|
