|
punctatas, rhizomelic chondrodysplasia
|
D018902 |
|
|
rhizomelic form chondrodysplasia punctata
|
D018902 |
|
|
aortopulmonary septal defect
|
21902 |
|
|
cranial nerves, congenital paresis of
|
9029 |
|
|
macular dystrophy, corneal
|
9020 |
|
|
macular dystrophy, corneal type 1
|
9020 |
|
|
macular dystrophy, corneal, 1
|
9020 |
|
|
macular dystrophy, corneal; MCD
|
http://purl.obolibrary.org/obo/MONDO_0009020 |
|
|
agenesis of corpus callosum
|
9022 |
|
|
agenesis of corpus callosum with facial anomalies and Robin sequence
|
9021 |
|
|
agenesis of corpus callosum with neuronopathy
|
902 |
|
|
agenesis of corpus callosum with peripheral neuropathy
|
902 |
|
|
agenesis of corpus callosum with polyneuropathy
|
902 |
|
|
11-beta-hydroxysteroid dehydrogenase deficiency type 2
|
9025 |
|
|
cortical blindness-intellectual disability-polydactyly syndrome
|
9024 |
|
