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 6234
Other names: dup(10)(q22.3q23.3); trisomy 10q22.3q23.3
Other names: dup(11)p(15.4); trisomy 11p15.4
Other names: 11q22.2-q22.3 deletion syndrome; Del(11)(q22.2q22.3); monosomy 11q22.2-q22.3; monosomy 11q22.2q22.3
Other names: Del(12)(q14); deletion 12q14; monosomy 12q14; osteopoikilosis-short stature-intellectual disability syndrome
Other names: Del(12)(q15)(q21.1); deletion 12q15q21.1; monosomy 12q15q21.1
Other names: Del(13)(q12.3); monosomy 13q12.3
Other names: dup(14)(q11.2); trisomy 14q11.2
Other names: Del(14)(q24.1q24.3); monosomy 14q24.1q24.3
Other names: dup(14)q(32); predisposition to adult-onset myeloproliferative neoplasm due to 14q32 duplication; trisomy 14q32
Other names: 15q26 overgrowth syndrome
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