Rare Disease Library

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"

8 matching diseasesClear search ×

Paternal 20q13.2q13.3 microdeletion syndrome

Paternal del(20)(q13.2q13.3) · Paternal monosomy 20q13.2q13.3

ORPHA:261304

15q13.3 microdeletion syndrome

Del(15)(q13.3) · Monosomy 15q13.3

ORPHA:199318

20p12.3 microdeletion syndrome

Del(20)(p12.3) · Monosomy 20p12.3

ORPHA:261295

20q13.33 microdeletion syndrome

Del(20)(q13.33) · Monosomy 20q13.33

ORPHA:261311

3q13 microdeletion syndrome

Del(3)(q13) · Monosomy 3q13

ORPHA:1621

Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion

Maternal del(14)(q32.2) · Maternal monosomy 14q32.2

ORPHA:254528

Paternal uniparental disomy of chromosome 20 syndrome

UPD(20)pat · Paternal UPD(20)

ORPHA:96194

Temple syndrome due to paternal 14q32.2 microdeletion

Paternal del(14)(q32.2)

ORPHA:254525