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"

7 matching diseasesClear search ×

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

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

ORPHA:254528

14q11.2 microdeletion syndrome

Del(14)(q11.2) · Monosomy 14q11.2

ORPHA:261120

2q31.1 microdeletion syndrome

Del(2)(q31.1) · Monosomy 2q31.1

ORPHA:251014

Maternal uniparental disomy of chromosome 20 syndrome

UPD(20)mat · Maternal UPD(20)

ORPHA:96186

Paternal 20q13.2q13.3 microdeletion syndrome

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

ORPHA:261304

SATB2-associated syndrome due to a chromosomal rearrangement

Del(2)(q33.1) · Monosomy 2q33.1

ORPHA:251028

Temple syndrome due to paternal 14q32.2 microdeletion

Paternal del(14)(q32.2)

ORPHA:254525