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"

42 matching diseasesClear search ×

Jacobsen syndrome

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

ORPHA:2308

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

12q15q21 microdeletion syndrome

Del(12)(q15)(q21) · Deletion 12q15q21

ORPHA:289513

13q12.3 microdeletion syndrome

Del(13)(q12.3) · Monosomy 13q12.3

ORPHA:412035

14q11.2 microdeletion syndrome

Del(14)(q11.2) · Monosomy 14q11.2

ORPHA:261120

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

15q11.2 microdeletion syndrome

15q11.2 BP1-BP2 microdeletion syndrome · Del(15)(q11.2)

ORPHA:261183

15q13.3 microdeletion syndrome

Del(15)(q13.3) · Monosomy 15q13.3

ORPHA:199318

15q24 microdeletion syndrome

Del(15)(q24) · Monosomy 15q24

ORPHA:94065

16p13.11 microdeletion syndrome

Del(16)(p13.11) · Monosomy 16p13.11

ORPHA:261236

16q24.1 microdeletion syndrome

Del(16)(q24.1) · Monosomy 16q24.1

ORPHA:352629

16q24.3 microdeletion syndrome

Del(16)(q24.3) · Monosomy 16q24.3

ORPHA:261250

17q11 microdeletion syndrome

Del(17)(q11) · Monosomy 17q11

ORPHA:97685

17q21.31 microdeletion syndrome

Del(17)(q21.31) · Monosomy 17q21.31

ORPHA:363958

17q23.1q23.2 microdeletion syndrome

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

ORPHA:261279

17q24.2 microdeletion syndrome

Del(17)(q24)

ORPHA:529962

19q13.11 microdeletion syndrome

Del(19)(q13.11) · Monosomy 19q13.11

ORPHA:217346

1p21.3 microdeletion syndrome

Monosomy 1p21.3 · Del(1)(p21.3)

ORPHA:293948

1q21.1 microdeletion syndrome

Del(1)(q21) · Monosomy 1q21.1

ORPHA:250989

1q44 microdeletion syndrome

Del(1)(q44) · Monosomy 1q44

ORPHA:238769

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

4q21 microdeletion syndrome

Del(4)(q21) · Monosomy 4q21

ORPHA:238750

5q14.3 microdeletion syndrome

Del(5)(q14.3) · Monosomy 5q14.3

ORPHA:228384

6q25.2q25.3 microdeletion syndrome

Del(6)(q25.2q25.3) · Monosomy 6q25.2q25.3

ORPHA:251056

8q21.11 microdeletion syndrome

Del(8)(q21.11) · Deletion 8q21.11

ORPHA:284160

8q24.3 microdeletion syndrome

Del(8)(q24.3) · Deletion 8q24.3

ORPHA:508488

9q31.1q31.3 microdeletion syndrome

Del(9)(q31.1q31.3) · Monosomy 9q31.1q31.3

ORPHA:401923

9q33.3q34.11 microdeletion syndrome

Monosomy 9q33.3q34.11 · Deletion 9q33.3q34.11

ORPHA:495818

Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion

Del(2)(q24) · Monosomy 2q24

ORPHA:1617

Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion

5q31.3 microdeletion syndrome · Del(5)(q31.3)

ORPHA:314655

WAGR syndrome

Del(11)(p13) · Deletion 11p13

ORPHA:893

Xq21 microdeletion syndrome

Ayazi syndrome · Monosomy Xq21

ORPHA:1435

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