All diseases

10 entries on 1 page. Showing entries 1 - 10.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
02535 CHN1 neuropathy, hypomyelinating, congenital, type 1 605253 AD;AR 2 2 EGR2, MPZ - -
06043 CHN2 Hypomyelinating neuropathy, congenital, 2 618184 AD - - MPZ - -
01245 CMT1B Charcot-Marie-Tooth disease, type IB (CMT-1B) 118200 AD 44 44 MPZ - -
02689 CMT2I Charcot-Marie-Tooth disease, type 2I (CMT-2I) 607677 AD 1 1 MPZ - -
02699 CMT2J Charcot-Marie-Tooth disease, type 2J (CMT-2J) 607736 AD - - MPZ - -
02704 CMTDID Charcot-Marie-Tooth disease, dominant intermediate, type D (CMTDID) 607791 AD - - MPZ - -
01387 DejerineSottas Dejerine-Sottas disease (hypertrophic neuropathy) 145900 AD;AR 39 20 EGR2, MPZ, PMP22, PRX - -
06126 DFNB111 Deafness, autosomal recessive 111 618145 AR - - MPZL2 - -
05086 HL hearing loss (HL) - - 1295 1182 C10orf90, FAM179A, GRAP, MPZL2, PDZD7, PKHD1L1, USP48 - -
01549 Roussy-Levy syndrome Roussy-Levy syndrome 180800 AD 2 1 MPZ, PMP22 - -
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