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"

21 matching diseasesClear search ×

10q22.3q23.3 microdeletion syndrome

Del(10)(q22.3q23.3) · Deletion 10q22.3q23.3

ORPHA:276413

10q22.3q23.3 microduplication syndrome

Dup(10)(q22.3q23.3) · Trisomy 10q22.3q23.3

ORPHA:276422

11q22.2q22.3 microdeletion syndrome

Monosomy 11q22.2q22.3 · Del(11)(q22.2q22.3)

ORPHA:444002

13q12.3 microdeletion syndrome

Del(13)(q12.3) · Monosomy 13q12.3

ORPHA:412035

14q22q23 microdeletion syndrome

14q22-q23 microdeletion syndrome · Del(14)(q22q23)

ORPHA:264200

14q24.1q24.3 microdeletion syndrome

Del(14)(q24.1q24.3) · Monosomy 14q24.1q24.3

ORPHA:401935

15q13.3 microdeletion syndrome

Del(15)(q13.3) · Monosomy 15q13.3

ORPHA:199318

16q24.3 microdeletion syndrome

Del(16)(q24.3) · Monosomy 16q24.3

ORPHA:261250

17q23.1q23.2 microdeletion syndrome

Del(17)(q23.1q23.2) · Monosomy 17q23.1q23.2

ORPHA:261279

1q21.1 microdeletion syndrome

Del(1)(q21) · Monosomy 1q21.1

ORPHA:250989

21q22.11q22.12 microdeletion syndrome

Del(21)(q22.11q22.12) · Monosomy 21q22.11q22.12

ORPHA:261323

2q23.1 microdeletion syndrome

Del(2)(q23.1) · Monosomy 2q23.1

ORPHA:228402

3q13 microdeletion syndrome

Del(3)(q13) · Monosomy 3q13

ORPHA:1621

3q26q27 microdeletion syndrome

Del(3)(q26q27) · Monosomy 3q26q27

ORPHA:356947

3q26q28 deletion syndrome

Del(3)(q26q28) · Monosomy 3q26q28 syndrome

ORPHA:695611

3q27.3 microdeletion syndrome

Del(3)(q27.3)

ORPHA:397695

3q29 microdeletion syndrome

3q subtelomere deletion syndrome · 3qter deletion

ORPHA:65286

8q24.3 microdeletion syndrome

Del(8)(q24.3) · Deletion 8q24.3

ORPHA:508488

DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion

21q22.13q22.2 microdeletion syndrome · Del(21)(q22.13q22.2)

ORPHA:268261

Jacobsen syndrome

Chromosome 11q deletion syndrome · Del(11)(q23.3)

ORPHA:2308

ZMYND11-related developmental delay-speech delay-seizures-behavioral abnormalities-craniofacial dysmorphism syndrome due to 10p15.3 microdeletion

10p15.3 microdeletion syndrome · Del(10)(p15.3)

ORPHA:687424