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
07205 CONDCAC nurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline 620636 AD - - CAPRIN1 - -
07000 DEE101 encephalopathy, developmental and epileptic, type 101 619814 AR - - GRIN1 - -
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 - -
05611 NDD neurodevelopmental disorder (NDD) - - 4410 4229 ACBD6, ADARB1, AP1G1, ARFGEF1, ATP9A, CAMK2D, CAMSAP1, CAPRIN1, CASP2, CHASERR, CLCN3, CPSF3L, DDB1, DENND5B, DHX30, DHX9, DOHH, DOT1L, EEFSEC, EIF2C1, 91 more - -
00803 NDHMSD Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant 614254 - 1 1 GRIN1 - -
06817 NDHMSR Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive 617820 AR - - GRIN1 - -
07206 NEDLAAD neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder 620782 AD - - CAPRIN1 - -
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