All diseases

7 entries on 1 page. Showing entries 1 - 7.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
00058 CORD dystrophy, cone-rod (CORD) - - 363 361 ADAM9, DRAM2, GUCY2D, PITPNM3, POC1B, RAB28, TTLL5 - -
04108 CORD19 dystrophy, cone-rod, type 19 (CORD19) 615860 AR - - TTLL5 - -
05994 DFNB26M ?{Deafness, autosomal recessive 26, modifier of} 605429 AD - - METTL13 - -
00139 ID intellectual disability (ID) - - 2799 2480 AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 556 more - -
04147 MRT mental retardation, autosomal recessive (MRT, intellectual disability (IDT)) - - 24 24 ELP2, LINGO1, LINS, MBOAT7, METTL5, PGAP1 - autosomal recessive
04141 MRT44 mental retardation, autosomal recessive, type 44 (MRT-44) 615942 AR - - METTL23 - -
05982 MRT72 intellectual developmental disorder, autosomal recessive, type 12 (MRT72) 618665 AR - - METTL5 - -
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