All diseases

3 entries on 1 page. Showing entries 1 - 3.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
01757 DMC Dyggve-Melchior-Clausen disease 223800 AR 3 1 DYM - height below 2SD, OFC below 3rd percentile, coarse facies, short neck, short trunk, brachydactyly, barrel chest/pectus carinatum, abdominal distension, lumbar lordosis, restricted major joint mobility, waddling gait, intellectual disability/global developmental delay, no odontoid hypoplasia, platyspondyly, double hump vertebral bodies, short and broad ilia with basilar hypoplasia, lacy iliac crests, rhizomelic upper/lower limbs, irregularities epiphyses, irregularities metaphysis, shortened metacarpals, shortened phalanges, carpal bone irregularities, genua valga
00139 ID intellectual disability (ID) - - 2694 2376 AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 553 more - -
02647 SMC1 dysplasia, Smith-McCort, type 1 607326 AD - - DYM - height below 2SD, normal OFC, short neck, short trunk, barrel chest/pectus carinatum, abdominal distension, restricted major joint mobility, waddling gait, no intellectual disability/global developmental delay, no odontoid hypoplasia, platyspondyly, double hump vertebral bodies, short and broad ilia with basilar hypoplasia, lacy iliac crests, rhizomelic upper/lower limbs, irregularities epiphyses, irregularities metaphysis, shortened metacarpals, shortened phalanges, genua valga
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