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Browse Orphanet-curated rare diseases with HPO phenotype annotations, synonyms, and linked support programs. Search by name, abbreviation, or synonym.
Try: "IgA nephropathy", "C3G", "Berger's disease", "PKU", "Duchenne"
9q33.3q34.11 microdeletion syndrome
Monosomy 9q33.3q34.11 · Deletion 9q33.3q34.11
11q22.2q22.3 microdeletion syndrome
Monosomy 11q22.2q22.3 · Del(11)(q22.2q22.3)
9q31.1q31.3 microdeletion syndrome
Del(9)(q31.1q31.3) · Monosomy 9q31.1q31.3
Jacobsen syndrome
Chromosome 11q deletion syndrome · Del(11)(q23.3)
Monosomy 13q34 syndrome
Del(13)(q34) · Distal deletion 13q34
SATB2-associated syndrome due to a chromosomal rearrangement
Del(2)(q33.1) · Monosomy 2q33.1