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"

161 matching diseasesClear search ×

Micro syndrome

WARBM · Warburg micro syndrome

ORPHA:2510

12p12.1 microdeletion syndrome

Del(12)(p12.1) · Monosomy 12p12.1

ORPHA:313884

12q14 microdeletion syndrome

Del(12)(q14) · Deletion 12q14

ORPHA:94063

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

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

17q12 microdeletion syndrome

Del(17)(q12) · Monosomy 17q12

ORPHA:261265

17q24.2 microdeletion syndrome

Del(17)(q24)

ORPHA:529962

19p13.12 microdeletion syndrome

Del(19)(p13.12) · Monosomy 19p13.12

ORPHA:254346

19p13.13 microdeletion syndrome

Del(19)(p13.13) · Monosomy 19p13.13

ORPHA:357001

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

1p31p32 microdeletion syndrome

Del(1)(p31p32) · Monosomy 1p31p32

ORPHA:401986

1p35.2 microdeletion syndrome

Deletion 1p35.2 · Del(1)(p35.2)

ORPHA:456298

1q21.1 microdeletion syndrome

Del(1)(q21) · Monosomy 1q21.1

ORPHA:250989

1q41q42 microdeletion syndrome

Del(1)(q41q42) · Monosomy 1q41q42

ORPHA:250999

1q44 microdeletion syndrome

Del(1)(q44) · Monosomy 1q44

ORPHA:238769

20p12.3 microdeletion syndrome

Del(20)(p12.3) · Monosomy 20p12.3

ORPHA:261295

20p13 microdeletion syndrome

20p subtelomeric deletion syndrome · Del(20)(p13)

ORPHA:313781

20q11.2 microdeletion syndrome

Del(20)(q11.2) · Monosomy 20q11

ORPHA:444051

2p13.2 microdeletion syndrome

Del(2)(p13.2)

ORPHA:363680

2p21 microdeletion syndrome

2p21 deletion syndrome · Del(2)(p21)

ORPHA:163693

2q13 microdeletion syndrome

del2q13 syndrome

ORPHA:684742

2q23.1 microdeletion syndrome

Del(2)(q23.1) · Monosomy 2q23.1

ORPHA:228402

2q31.1 microdeletion syndrome

Del(2)(q31.1) · Monosomy 2q31.1

ORPHA:251014

2q37 microdeletion syndrome

Albright hereditary osteodystrophy type 3 · Albright hereditary osteodystrophy-like syndrome

ORPHA:1001

3M syndrome

3-M syndrome · Yakut short stature syndrome

ORPHA:2616

3p25.3 microdeletion syndrome

Del(3)p(25.3) · Intellectual disability-epilepsy-stereotypic hand movement syndrome

ORPHA:435638

3q13 microdeletion syndrome

Del(3)(q13) · Monosomy 3q13

ORPHA:1621

3q26 microduplication syndrome

Dup(3)(q26) · Trisomy 3q26

ORPHA:96095

3q26q27 microdeletion syndrome

Del(3)(q26q27) · Monosomy 3q26q27

ORPHA:356947

3q27.3 microdeletion syndrome

Del(3)(q27.3)

ORPHA:397695

3q29 microdeletion syndrome

3q subtelomere deletion syndrome · 3qter deletion

ORPHA:65286

3q29 microduplication syndrome

Trisomy 3q29

ORPHA:251038

4q21 microdeletion syndrome

Del(4)(q21) · Monosomy 4q21

ORPHA:238750

5p13 microduplication syndrome

Dup(5)(p13) · Trisomy 5p13

ORPHA:329802

5q14.3 microdeletion syndrome

Del(5)(q14.3) · Monosomy 5q14.3

ORPHA:228384

5q22 microdeletion syndrome

Monosomy 5q22 syndrome · Del(5)(q22) syndrome

ORPHA:261584

5q35 microduplication syndrome

Dup(5)(q35) · Trisomy 5q35

ORPHA:228415

6p22 microdeletion syndrome

Del(6)(p22) · Monosomy 6p22

ORPHA:251046

6q16 microdeletion syndrome

Del(6)(q16) · Monosomy 6q16

ORPHA:171829

6q25.1 microdeletion syndrome

ORPHA:664404