Explore GARD's list of rare diseases. Filter by category or search by disease name, acronym, or synonym. Rare diseases found on GARD should not be used as policy statements of NCATS or the NIH.
Showing 1 - 10 of 5958
Other names: Del(12)(q14), Deletion 12q14, Monosomy 12q14, Osteopoikilosis-short stature-intellectual disability syndrome
Other names: 14q22-q23 microdeletion syndrome, Del(14)(q22q23), Monosomy 14q22-q23, Monosomy 14q22q23
Other names: 15q11.2 BP1-BP2 microdeletion syndrome, Del(15)(q11.2), Monosomy 15q11.2
Other names: Del(15)(q13.3), Monosomy 15q13.3
Other names: Del(15)(q24), Monosomy 15q24
Other names: Distal duplication 16p, Distal trisomy 16p, Dup(16)(p13.3), Telomeric duplication 16p, Trisomy 16pter
Other names: Del(16)(q24.3), Monosomy 16q24.3
Other names: Potocki-Lupski syndrome, Trisomy 17p11.2
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