|
classical hydatidiform Mole
|
16785 |
|
|
fuchs endothelial, 3 corneal dystrophy
|
C567678 |
|
|
Williams-Beuren syndrome; WBS
|
http://purl.obolibrary.org/obo/MONDO_0008678 |
|
|
Glutaminase Deficiency With Neonatal Epileptic Encephalopathy
|
32678 |
|
|
brachydactyly with absence of middle phalanges and hypoplastic nails
|
19678 |
|
|
craniosynostosis radial aplasia syndrome
|
C536788 |
|
|
heterotopia, periventricular, associated with chromosome 5q deletion
|
C567876 |
|
|
spinocerebellar ataxia associated with localized amyotrophy of the hands, sensorineural deafness and spastic paraparesis
|
C537678 |
|
|
oligodactylous clubfeet, and anonychia-nail hypoplasia syndrome fibular agenesis-hypoplasia
|
C567819 |
|
|
hidrocystoma (morphologic abnormality)
|
6787 |
|
