All diseases

2 entries on 1 page. Showing entries 1 - 2.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
05714 AUKS Au-Kline syndrome (AUKS) 616580 AD 2 2 HNRNPK - hypotonia, developmental delay, moderate‐to‐severe intellectual disability, facial dysmorphic features, autonomic dysfunction, congenital heart disease, hydronephrosis, palate abnormalities, oligodontia, inconstant craniosynostosis or other skeletal anomalies
05715 Okamoto Okamoto syndrome 604916 AD 2 2 HNRNPK - severe intellectual disability, generalized hypotonia, stenosis ureteropelvic junction with hydronephrosis, cardiac anomalies, characteristic facial gestalt
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