All diseases

41 entries on 1 page. Showing entries 1 - 41.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
01774 - epidermolysis bullosa, junctional, non-Herlitz type 226650 AR 1 1 COL17A1, ITGB4, LAMA3, LAMB3, LAMC2 - -
01776 - epidermolysis bullosa, junctional, Herlitz type 226700 AR - - LAMA3, LAMB3, LAMC2 - -
02206 - Olmsted syndrome, X-linked 300918 XLR - - MBTPS2 - -
02773 - Hypertension, diastolic, resistance to 608622 AD 9 9 KCNMB1 - -
02816 - Pierson syndrome 609049 AR 64 20 LAMB2 - -
00645 ACHP acheiropody (ACHP) 200500 AR 5 5 LMBR1 - -
05650 AI amelogenesis imperfecta (AI) - - 75 73 AMBN, AMELX, MMP20 - -
04553 AI1A amelogenesis imperfecta, type IA (AI1A) 104530 AD - - LAMB3 - -
04356 AI1F amelogenesis imperfecta, type IF (AI1F) 616270 AR - - AMBN - -
01518 AIP porphyria, acute intermittent (AIP) 176000 AD 2 - HMBS - autosomal dominant
04514 CMT2S Charcot-Marie-Tooth disease, axonal, type 2S 616155 AR 1 1 IGHMBP2 - -
06093 CTRCT48 Cataract 48 618415 AR - - DNMBP - -
02496 DSMA1 atrophy, muscular, spinal, distal, type 1 (DSMA-1, alias SMARD-1) 604320 AR 68 69 IGHMBP2 - -
03073 HPC13 cancer, prostate, hereditary, type 13 (HPC-13) 611928 - - - MSMB - -
00139 ID intellectual disability (ID) - - 2792 2473 AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 556 more - -
05764 IFAP ichthyosis, follicular, with atrichia and photophobia syndrome - - 34 34 MBTPS2, SREBF1 - -
01059 IFAP1 IFAP syndrome with/without BRESHECK syndrome 308205 XLR 46 46 MBTPS2 - -
05716 KFSD keratosis follicularis spinulosa decalvans (KFDS) 612843 - 5 5 MBTPS2 - follicular hyperkeratosis, progressive cicatricial alopecia, photophobia
01060 KFSDX keratosis follicularis spinulosa decalvans, X-linked (KFSDX) 308800 XLR 4 4 MBTPS2, SAT1 - -
01140 LIS5 lissencephaly, type 5 (LIS-5) 615191 AR - - LAMB1 - -
04558 LSS Laurin-Sandrow syndrome (LSS) 135750 AD - - LMBR1 - -
02119 MAHCF aciduria, methylmalonic, and homocystinuria, cblF type (MAHCF) 277380 AR 1 1 LMBRD1 - -
03616 MBLD mannose-binding lectin deficiency 614372 AD - - MBL2 - -
03589 MICCAP microcephaly-capillary malformation syndrome (MICCAP ) 614261 AR - - STAMBP - -
00792 MRD1 mental retardation, autosomal dominant, type 1 (MRD-1) 156200 AD 2 2 MBD5 - -
04147 MRT mental retardation, autosomal recessive (MRT, intellectual disability (IDT)) - - 24 24 ELP2, LINGO1, LINS, MBOAT7, METTL5, PGAP1 - autosomal recessive
05679 MRT57 mental retardation, autosomal recessive, type 57 (MRT57) 617188 AR - - MBOAT7 - -
00399 NPHS nephrotic syndrome (NPHS) - - 108 90 ADCK4, ARHGDIA, DAAM2, DGKE, EMP2, LAMB2, NPHS1, NPHS2, NUP205, NUP93, PLCE1, PTPRO, WT1 - -
03578 NPHS5 nephrotic syndrome, type 5, with/without ocular abnormalities (NPHS-5) 614199 - - - LAMB2 - -
05296 OI osteogenesis imperfecta - - 4596 1419 BMP1, CCDC134, COL1A1, COL1A2, CREB3L1, CRTAP, FAM46A, FKBP10, IFITM5, KDELR2, KIF5B, MBTPS2, MESDC2, P3H1, PHLDB1, SERPINF1, SERPINH1, SP7, SPARC, TMEM38B, WNT1 - -
05935 OI19 osteogenesis imperfecta type XIX (OI19) 301014 XLR 1 - MBTPS2 - -
06752 PLCA3 Amyloidosis, primary localized cutaneous, 3 617920 AR - - GPNMB - -
00646 PPD2 polydactyly, preaxial, type II (PPD-2) 174500 AD 2 2 LMBR1 - autosomal dominant
07078 PRAAS proteasome-associated autoinflammatory syndrome - - - - PSMB10 - -
01964 PRAAS1 proteasome-associated autoinflammatory syndrome, type 1 256040 AR - - PSMB8 - -
07079 PRAAS3 proteasome-associated autoinflammatory syndrome, type 3 617591 AR - - PSMB4 - -
07077 PRAAS5 proteasome-associated autoinflammatory syndrome, type 5 619175 AR - - PSMB10 - -
06706 PRAAS6 proteasome-associated autoinflammatory syndrome, type 9, digenic 620796 AD - - PSMB9 - -
00647 SDTY4 syndactyly, type IV (SDTY-4) 186200 AD - - LMBR1 - -
06316 SEDKF ?Spondyloepiphyseal dysplasia, Kondo-Fu type 618392 AR 1 - MBTPS1 - -
04557 THYP tibia, hypoplastic or aplastic, with polydactyly (THYP) 188740 AD - - LMBR1 - -
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