Rare Disease Database

Rare Disease Database

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Rare Disease Database GARD Rare Diseases Database
NORD Rare Disease Report
Choroideremia

Also known as: choroidal sclerosis progressive choroidal atrophy progressive tapetochoroidal dystrophy

* También disponible en español

NORD Rare Disease Report
Choroiditis, Serpiginous

Also known as: Geographic Choroiditis Geographic Choroidopathy Geographic Helicoid Peripapillary Choroidopathy (GHPC) Geographic Serpiginous Choroiditis Peripapillary Choroidopathy Serpiginous Choroidopathy

NORD Rare Disease Report
Chromosome 10, Distal Trisomy 10q

Also known as: chromosome 10, partial trisomy 10q24-qter chromosome 10, trisomy 10q2 distal duplication 10q distal trisomy 10q syndrome dup(10q) syndrome

NORD Rare Disease Report
Chromosome 10, Monosomy 10p

Also known as: 10p deletion syndrome (partial) chromosome 10, 10p- partial chromosome 10, partial deletion (short arm)

NORD Rare Disease Report
Chromosome 11, Partial Monosomy 11q

Also known as: 11q- syndrome, partial 11q terminal deletion disorder deletion 11q syndrome, partial distal 11q monosomy distal 11q- syndrome Jacobsen syndrome JS monosomy 11q, partial partial monosomy of long arm of chromosome 11

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NORD Rare Disease Report
Chromosome 11, Partial Trisomy 11q

Also known as: 11q Partial Trisomy Chromosome 11, Partial Trisomy 11q13-qter Chromosome 11, Partial Trisomy 11q21-qter Chromosome 11, Partial Trisomy 11q23-qter Distal Trisomy 11q Partial Trisomy 11q Trisomy 11q, Partial

NORD Rare Disease Report
Chromosome 13, Partial Monosomy 13q

Also known as: 13q- Syndrome, Partial Deletion 13q Syndrome, Partial Monosomy 13q, Partial Partial Monosomy of the Long Arm of Chromosome 13

NORD Rare Disease Report
Chromosome 15 Ring

Also known as: r15 Ring 15 Ring 15, Chromosome Ring 15, Chromosome (mosaic pattern)

NORD Rare Disease Report
Chromosome 18, Monosomy 18p

Also known as: 18p Deletion Syndrome 18p- Syndrome Del(18p) Syndrome Monosomy 18p Syndrome Short Arm 18 Deletion Syndrome

NORD Rare Disease Report
Chromosome 18q- Syndrome

Also known as: 18q Deletion Syndrome 18q- Syndrome Chromosome 18 Long Arm Deletion Syndrome Chromosome 18, Monosomy 18Q Del(18q) Syndrome Monosomy 18q Syndrome

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