MEDLIB
Orphanet Database

Rare diseases

7,547 diseases with genetics, phenotypes, and epidemiology

7,547Diseases
4 552Genes
8 700Phenotypes
DiagnosticsOrphan drugsClinical trialsStatistics
AllBio anom.Cat.Clin. grp.Clin. sub.Clinical syndromeDiseaseEtio. sub.Hist. sub.Malform.Morph.Situation

8q24.3 microdeletion syndrome

ORPHA:508488Malform.
Not applicable

9p13 microdeletion syndrome

ORPHA:324313Malform.
Not applicable, Unknown

9p23p22.2 microdeletion syndrome

ORPHA:714413Etio. sub.

9q21.13 microdeletion syndrome

ORPHA:531151Malform.
Not applicable

9q31.1q31.3 microdeletion syndrome

ORPHA:401923Malform.
Unknown

9q33.3q34.11 microdeletion syndrome

ORPHA:495818Malform.
Not applicable

AA amyloidosis

ORPHA:85445Disease
Not applicable

AApoAI amyloidosis

ORPHA:93560Clin. sub.
Autosomal dominant

AApoAII amyloidosis

ORPHA:238269Clin. sub.
Autosomal dominant

AApoAIV amyloidosis

ORPHA:439232Disease
Not applicable

ABeta amyloidosis, Arctic type

ORPHA:324723Clin. sub.
Autosomal dominant

ABeta amyloidosis, Dutch type

ORPHA:100006Clin. sub.
Autosomal dominant

ABeta amyloidosis, Iowa type

ORPHA:324708Clin. sub.
Autosomal dominant

ABeta amyloidosis, Italian type

ORPHA:324713Clin. sub.
Autosomal dominant

ABeta2M amyloidosis

ORPHA:439246Clin. grp.

ABetaA21G amyloidosis

ORPHA:324718Clin. sub.
Autosomal dominant

ABetaL34V amyloidosis

ORPHA:324703Clin. sub.
Autosomal dominant

ABri amyloidosis

ORPHA:97345Clin. sub.
Autosomal dominant

ACTH-dependent Cushing syndrome

ORPHA:99892Clin. grp.

ACys amyloidosis

ORPHA:100008Clin. sub.
Autosomal dominant

ADAR-related hereditary spastic paraplegia

ORPHA:694356Disease
Autosomal dominant

ADULT syndrome

ORPHA:978Malform.
Autosomal dominant

ADan amyloidosis

ORPHA:97346Clin. sub.
Autosomal dominant

AFib amyloidosis

ORPHA:93562Clin. sub.
Autosomal dominant
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