Rare Disease List
There are more than 7,000 rare diseases. We have begun to list these diseases here as well as provide a link to a community dedicated to rare diseases called RareShare. Please keep checking back as this list continues to expand or join the newsletter for updates.
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A
Acute Hepatic Porphyria/Acute Intermittent Porphyria (AIP)
Alternating Hemiplagia of Childhood
Aromatic L-Amino Acid Decarboxylase (AADC) Deficiency
Atypical Hemolytic Uremic Syndrome
B
Beckwith-Wiedemann Syndrome (BWS)
C
Chromosome 4q Deletion Syndrome
Chronic Progressive External Ophthalmoplegia (CPEO)
Common Variable Immunodeficiency
D
Duchenne Muscular Dystrophy (DMD)
E
F
Fibrodysplasia Ossificans Progressiva (FOP)
G
GRIN1-Related Neurodevelopmental Disorder (GRIN1-NDD)
H
Hereditary Hemorrhagic Telangiectasia (HHT)
I
Infantile Neuroaxonal Dystrophy (INAD)
K
M
Malignant Peripheral Nerve Sheath Tumors
N
Neuromyelitis Optica Spectrum Disorder (NMOSD)
P
Pallister-Killian Syndrome (PKS)
Papillon-Lefevre Syndrome (PLS)
Paraneoplastic Cerebellar Degeneration (PCD)
Paraneoplastic Limbic Encephalitis (PLE)
Pediatric Autoimmune Neuropsychiatric Disorder Associated with Streptococcus (PANDAS)
Peripartum Cardiomyopathy (PPCM)
S
Systemic Capillary Leak Syndrome
T
TFE3-Associated Neurodevelopmental Disorder (TFE3)