All diseases

14 entries on 1 page. Showing entries 1 - 14.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
00015 GSL Galactosialidosis - AR 1 - CTSA - -
00012 HP3 Hyperoxaluria, Primary, Type III 613616 AR 1 - HOGA1 - -
00016 L2HGA L-2-HYDROXYGLUTARIC ACIDURIA - AR 1 - L2HGDH - -
00006 ML III Mucolipidosis III alpha/beta 252600 AR 1 - GNPTAB - -
00007 ML III Gamma Mucolipidosis III gamma 252605 AR 1 - GNPTG - -
00001 MPS I Mucopolysaccharidosis type I 607014 AR 59 - IDUA - -
00002 MPS II Mucopolysaccharidosis II 309900 XLR 18 - IDS - -
00003 MPS IIIA Mucopolysaccharidosis type IIIA 252900 AR 12 - SGSH - -
00004 MPS IIIB Mucopolysaccharidosis type IIIB 252920 AR 16 - NAGLU - -
00005 MPS IIIC Mucopolysaccharidosis type IIIC 252930 AR 5 - HGSNAT - -
00008 MPS IVA Mucopolysaccharidosis type IVA 253000 AR 89 - GALNS - -
00009 MPS IVB Mucopolysaccharidosis type IVB 253010 AR 1 - GLB1 - -
00010 MPS VI Mucopolysaccharidosis type VI 253200 AR 59 - ARSB - -
00013 Sialidosis Neuraminidase Deficiency 256550 AR 1 - NEU1 - -
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