All diseases

5 entries on 1 page. Showing entries 1 - 5.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
01103 - Leukemia, acute promyelocytic, PL2F/RARA type - - - - ZBTB16 - -
01104 - Skeletal defects, genital hypoplasia, and mental retardation 612447 AR 2 1 ZBTB16 - -
00139 ID intellectual disability (ID) - - 2749 2431 AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 555 more - -
03124 MRD22;del1q43q44 mental retardation, autosomal dominant, type 22 (1q43-q44 deletion syndrome) 612337 AD 2 1 ZBTB18 - moderate-severe intellectual disability; limited or no speech; variable but characteristic facial features (round face, prominent forehead, flat nasal bridge, hypertelorism, epicanthal folds, low-set ears); hypotonia; poor growth; microcephaly; agenesis corpus callosum; seizures
06587 MRT69 Intellectual developmental disorder, autosomal recessive 69 618383 AR - - ZBTB11 - -
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