Rare Disease Library

4q21 microdeletion syndrome

Del(4)(q21) · Monosomy 4q21

4q25 proximal deletion syndrome

Proximal del(4)(q25) · Proximal monosomy 4q25

5-fluorouracil poisoning

5-fluorouracil intoxication

5-oxoprolinase deficiency

Oxoprolinuria due to oxoprolinase deficiency

5p13 microduplication syndrome

Dup(5)(p13) · Trisomy 5p13

5q14.3 microdeletion syndrome

Del(5)(q14.3) · Monosomy 5q14.3

5q22 microdeletion syndrome

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

5q35 microduplication syndrome

Dup(5)(q35) · Trisomy 5q35

6-phosphogluconate dehydrogenase deficiency

6-pyruvoyl-tetrahydropterin synthase deficiency

Hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency

6p22 microdeletion syndrome

Del(6)(p22) · Monosomy 6p22

6q terminal deletion syndrome

6q16 microdeletion syndrome

Del(6)(q16) · Monosomy 6q16

6q25.1 microdeletion syndrome

6q25.2q25.3 microdeletion syndrome

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

7p22.1 microduplication syndrome

Dup(7)(p22.1) · Trisomy 7p22.1

7q11.23 microduplication syndrome

Dup(7)(q11.23) · Trisomy 7q11.23

7q31 microdeletion syndrome

Del(7)(q31) · Monosomy 7q31

8p inverted duplication/deletion syndrome

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

8p11.2 deletion syndrome

Del(8)(p11.2) · Monosomy 8p11.2

8p23.1 duplication syndrome

Dup(8)(p23.1p23.1) · Trisomy 8p23.1

8p23.1 microdeletion syndrome

Del(8)(p23.1) · Monosomy 8p23.1

8q12 microduplication syndrome

Dup(8)(q12) · Trisomy 8q12

8q21.11 microdeletion syndrome

Del(8)(q21.11) · Deletion 8q21.11

8q22.1 microdeletion syndrome

Monosomy 8q22.1 · Nablus mask-like facial syndrome

8q24.3 microdeletion syndrome

Del(8)(q24.3) · Deletion 8q24.3

9p13 microdeletion syndrome

Del(9)(p13) · Monosomy 9p13

9q21.13 microdeletion syndrome

9q31.1q31.3 microdeletion syndrome

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

9q33.3q34.11 microdeletion syndrome

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

AA amyloidosis

Inflammatory amyloidosis · Reactive amyloidosis

AApoAI amyloidosis

Apolipoprotein A-I amyloidosis · Familial amyloid nephropathy due to apolipoprotein A-I variant

AApoAII amyloidosis

Apolipoprotein A-II amyloidosis · Familial amyloid nephropathy due to apolipoprotein A-II variant

AApoAIV amyloidosis

Apolipoprotein A-IV amyloidosis

Aarskog-Scott syndrome

Aarskog syndrome · Faciodigitogenital syndrome

Aase-Smith syndrome type 1

Aase-Smith I syndrome · Hydrocephalus-cleft palate-joint contractures syndrome

ABCD syndrome

Albinism-black lock-cell migration disorder of the neurocytes of the gut-sensorineural deafness syndrome · Albinism-black lock-cell migration disorder of the neurocytes of the gut-sensorineural hearing loss syndrome

ABeta amyloidosis, Arctic type

ABetaE22G amyloidosis · HCHWA, Arctic type

ABeta amyloidosis, Dutch type

HCHWA, Dutch type · HCHWA-D

ABeta amyloidosis, Iowa type

ABetaD23N amyloidosis · HCHWA, Iowa type

ABeta amyloidosis, Italian type

ABetaE22K amyloidosis · HCHWA, Italian type

ABeta2M amyloidosis

Beta2-microglobulinic amyloidosis

ABetaA21G amyloidosis

ABetaA21G-related amyloidosis · HCHWA, Flemish type

ABetaL34V amyloidosis

ABetaL34V-related amyloidosis · HCHWA, Piedmont type

Abetalipoproteinemia

Bassen-Kornzweig disease · Homozygous familial hypobetalipoproteinemia

Ablepharon macrostomia syndrome

AMS

Abnormal number of coronary ostia

Abnormal origin of right or left pulmonary artery from the aorta

Pulmonary artery coming from the aorta · Hemitruncus arteriosus