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"

38 matching diseasesClear search ×

3q13 microdeletion syndrome

Del(3)(q13) · Monosomy 3q13

ORPHA:1621

10q22.3q23.3 microdeletion syndrome

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

ORPHA:276413

11q22.2q22.3 microdeletion syndrome

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

ORPHA:444002

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

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

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

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

20p12.3 microdeletion syndrome

Del(20)(p12.3) · Monosomy 20p12.3

ORPHA:261295

20q11.2 microdeletion syndrome

Del(20)(q11.2) · Monosomy 20q11

ORPHA:444051

20q13.33 microdeletion syndrome

Del(20)(q13.33) · Monosomy 20q13.33

ORPHA:261311

3p25.3 microdeletion syndrome

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

ORPHA:435638

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

5q14.3 microdeletion syndrome

Del(5)(q14.3) · Monosomy 5q14.3

ORPHA:228384

6q16 microdeletion syndrome

Del(6)(q16) · Monosomy 6q16

ORPHA:171829

6q25.2q25.3 microdeletion syndrome

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

ORPHA:251056

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

Cleft palate-congenital heart defect-intellectual disability syndrome due to 15q14 microdeletion

Del(15)(q14) · Monosomy 15q14

ORPHA:261190

FOXG1 syndrome due to 14q12 microdeletion

Del(14)(q12) · Monosomy 14q12

ORPHA:261144

Jacobsen syndrome

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

ORPHA:2308

Mesomelia-synostoses syndrome

8q13 microdeletion syndrome · Del(8)q(13)

ORPHA:2496

Monosomy 13q14 syndrome

Del(13)(q14) · Deletion 13q14

ORPHA:1587

Monosomy 13q34 syndrome

Del(13)(q34) · Distal deletion 13q34

ORPHA:96168

Paternal 20q13.2q13.3 microdeletion syndrome

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

ORPHA:261304

Phelan-McDermid syndrome due to 22q13.3 deletion

22q13.3 deletion · Chromosome 22q13.3 deletion syndrome

ORPHA:662169

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

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

ORPHA:314655

Xq12-q13.3 duplication syndrome

Dup(X)(q12-q13.3) · Kaya-Prontera syndrome

ORPHA:314389

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