All diseases

15 entries on 1 page. Showing entries 1 - 15.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
05167 HMLR1 Heimler syndrome, type 1 (HMLR1) 234580 AR 11 6 PEX1 - -
00139 ID intellectual disability (ID) - - 1413 1151 AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 527 more - -
03775 PBD-11A peroxisome biogenesis disorder, type 11A (PBD-11A) 614883 - 0 0 PEX13 - -
03776 PBD-11B peroxisome biogenesis disorder, type 11B (PBD-11B) 614885 - 0 0 PEX13 - -
01132 PBD-14B;PEX-14B peroxisome biogenesis disorder, type 14B (PBD-14B, PEX-14B) 614920 - 1 1 PEX11B - -
03755 PBD-3A peroxisome biogenesis disorder, type 3A (PBD-3A) 614859 - 0 0 PEX12 - -
03763 PBD-6A peroxisome biogenesis disorder, type 6A (PBD-6A) 614870 - 0 0 PEX10 - -
03764 PBD-6B peroxisome biogenesis disorder, type 6B (PBD-6B) 614871 - 0 0 PEX10 - -
03768 PBD-8A peroxisome biogenesis disorder, type 8A (PBD-8A) 614876 - 0 0 PEX16 - -
03769 PBD-8B peroxisome biogenesis disorder, type 8B (PBD-8B) 614877 - 0 0 PEX16 - -
03777 PBD12A peroxisome biogenesis disorder, type 12A (PBD12A) 614886 AR 0 0 PEX19 - -
03778 PBD13A peroxisome biogenesis disorder, type 13A (PBD13A) 614887 AR 0 0 PEX14 - -
01702 PBD1A peroxisome biogenesis disorder, type 1A (PBD1A, Zellweger syndrome) 214100 AR 2 2 PEX1 - -
02369 PBD1B peroxisome biogenesis disorder, type 1B (PBD1B, (NALD/IRD)) 601539 AR 0 0 PEX1 - -
02049 PDB-3B peroxisome biogenesis disorder, type 3B (PBD-3B, Refsum’s disease) 266510 - 0 0 PEX12 - -
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