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
00908 AML leukemia, myeloid, acute (AML) 601626 - 43 28 CBFB, CEBPA, CHIC2, ETV6, FLT3, GATA2, JAK2, KIT, KRAS, LPP, MLF1, MLLT10, NPM1, NSD1, NUP214, PICALM, PTPN11, RUNX1, SH3GL1, TERT, WHSC1L1 - -
00231 BWS Beckwith-Wiedemann syndrome (BWS) 130650 AD 51 51 CDKN1C, H19, KCNQ1OT1, NSD1 - -
00139 ID intellectual disability (ID) - - 2695 2377 AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 553 more - -
05245 SOTOS Sotos syndrome (SOTOS) - - 160 65 APC2, NFIX, NSD1 - neurological disorder characterized by overgrowth (prenatal stage through childhood), advanced bone age, unusual face with large skull, acromegalic features and pointed chin, occasional brain anomalies, seizures, mental retardation
04599 SOTOS1 Sotos syndrome, type 1 (SOTOS-1) 117550 DR 136 117 NSD1 - characteristic facial appearance, learning disability, overgrowth (height and/or head circumference ⩾98th percentile); advanced bone age; cardiac anomalies; cranial magnetic resonance; imaging or CT abnormalities; hyperlaxity/pes planus; maternal pre-eclampsia; neonatal hypotonia; neonatal jaundice; neonatal poor feeding; renal anomalies; scoliosis; seizures
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