Rare Disease Library

11p15.4 microduplication syndrome

Dup(11)p(15.4) · Trisomy 11p15.4

14q11.2 microduplication syndrome

Dup(14)(q11.2) · Trisomy 14q11.2

14q32 duplication syndrome

Dup(14)q(32) · Predisposition to adult-onset myeloproliferative neoplasm due to 14q32 duplication

15q11q13 microduplication syndrome

15q11q13 duplication syndrome · Dup(15)(q11q13)

16p11.2p12.2 microduplication syndrome

Dup(16)(p11.2p12.2) · Trisomy 16p11.2p12.2

16p12.1p12.3 triplication syndrome

Tetrasomy 16p12.1p12.3 · Trip(16)(p12.1p12.3)

16p13.11 microduplication syndrome

Dup(16)(p13.11) · Trisomy 16p13.11

16p13.3 microduplication syndrome

Distal duplication 16p · Distal trisomy 16p

17p11.2 microduplication syndrome

Potocki-Lupski syndrome · Trisomy 17p11.2

17p13.3 microduplication syndrome

17p13.3 duplication syndrome · Dup(17)(p13.3)

17q11.2 microduplication syndrome

Dup(17)(q11.2) · Grisart-Destrée syndrome

17q12 microduplication syndrome

Dup(17)(q12) · Trisomy 17q12

17q21.31 microduplication syndrome

Dup(17)(q21.31) · Trisomy 17q21.31

19p13.3 microduplication syndrome

Dup(19)(p13.3)

1p36.33 duplication syndrome

1q21.1 microduplication syndrome

Dup(1)(q21.1) · Trisomy 1q21.1

20q11.2 microduplication syndrome

Dup(20)(q11.2)

22q11.2 duplication syndrome

Dup(22)(q11) · Duplication 22q11.2

2p25.3 microduplication syndrome

Trisomy 2p25.3 syndrome · Dup(2)(p25.3)

2q23.1 microduplication syndrome

Dup(2)(q23.1) · Trisomy 2q23.1

3q26 microduplication syndrome

Dup(3)(q26) · Trisomy 3q26

3q29 microduplication syndrome

Trisomy 3q29

46,XX difference of sex development-anorectal anomalies syndrome

46,XX disorder of sex development-anorectal anomalies syndrome

46,XX difference of sex development-skeletal anomalies syndrome

46,XX disorder of sex development-skeletal anomalies syndrome

46,XY difference of sex development due to a defect in testosterone metabolism by peripheral tissue

46,XY disorder of sex development due to a defect in testosterone metabolism by peripheral tissue

4p16.3 microduplication syndrome

Distal duplication 4p · Distal trisomy 4p

5-oxoprolinase deficiency

Oxoprolinuria due to oxoprolinase deficiency

5p13 microduplication syndrome

Dup(5)(p13) · Trisomy 5p13

5q35 microduplication syndrome

Dup(5)(q35) · Trisomy 5q35

7p22.1 microduplication syndrome

Dup(7)(p22.1) · Trisomy 7p22.1

7q11.23 microduplication syndrome

Dup(7)(q11.23) · Trisomy 7q11.23

8p inverted duplication/deletion syndrome

Invdupdel(8p) · Inverted 8p duplication/deletion syndrome

8p23.1 duplication syndrome

Dup(8)(p23.1p23.1) · Trisomy 8p23.1

8q12 microduplication syndrome

Dup(8)(q12) · Trisomy 8q12

ABeta amyloidosis, Italian type

ABetaE22K amyloidosis · HCHWA, Italian type

Abetalipoproteinemia

Bassen-Kornzweig disease · Homozygous familial hypobetalipoproteinemia

Absence of fingerprints-congenital milia syndrome

Absence of dermatoglyphics-congenital milia syndrome · Baird syndrome

Absent radius-anogenital anomalies syndrome

Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome

Acid sphingomyelinase deficiency

ASMD

Acquired generalized lipodystrophy

Acquired lipoatrophic diabetes · Lawrence syndrome

Acquired hemophagocytic lymphohistiocytosis associated with malignant disease

Hemophagocytic lymphohistiocytosis · HLH

Acquired hemophilia A

Acquired factor VIII deficiency · Acquired F8 deficiency

Acquired hemophilia B

Acquired factor IX deficiency · Acquired F9 deficiency

Acquired monoclonal Ig light chain-associated Fanconi syndrome

Acquired monoclonal immunoglobulin light chain-associated Fanconi syndrome · Acquired Fanconi syndrome secondary to monoclonal gammopathy

Acquired partial lipodystrophy

Barraquer-Simons syndrome · Progressive cephalothoracic lipodystrophy

Acquired sensory ganglionopathy

Acquired sensory neuronopathy

Acral peeling skin syndrome

Acral PSS · Peeling skin syndrome 2