Search by rare disease below. More information and rare disease pages will be added to the Rare Awareness Rare Education (RARE Portal) in time. Please note: this is not intended to be an exhaustive list of the 7,000+ known rare diseases.
Rare disease information pages are being developed in consultation with rare disease organisations and experts in Australia. A more exhaustive list of rare disease information pages can be found at the Genetic and Rare Diseases (GARD) Information Center website. If you would like to contribute to the development of an information page for a particular rare disease on the RARE Portal, please visit the Contribute Page.
Search by Disease Name:
A B C D E F G H I J K L M N O P Q R S T U V W X Y Z Numeric Other
A
Alpha-1 Antitrypsin Deficiency (A1AD)
Aromatic L-amino Acid Decarboxylase (AADC) Deficiency
B
C
Childhood Dementia Disorders (Umbrella Group)
Congenital Myasthenic Syndromes (CMS)
Congenital Rubella Syndrome (CRS)
Congenital Varicella Syndrome (CVS)
D
DeSanto-Shinawi Syndrome (DESSH)
Duchenne Muscular Dystrophy (DMD)
E
F
Facioscapulohumeral Muscular Dystrophy (FSHD)
Fibrodysplasia Ossificans Progressiva (FOP)
Fragile X-Associated Disorders (Umbrella Group)
Fragile X-associated Neuropsychiatric Disorders (FXAND)
Fragile X-associated Primary Ovarian Insufficiency (FXPOI)
Fragile X-associated Tremor/Ataxia Syndrome (FXTAS)
G
H
Hereditary Spastic Paraplegia (SPG)
I
Immune-Mediated Necrotizing Myopathy (IMNM)
J
K
L
Lambert Eaton Myasthenic Syndrome (LEMS)
Limb-Girdle Muscular Dystrophy (LGMD)
M
Mast Cell Activation Syndrome (MCAS)
McCune-Albright Syndrome (MAS)
N
Niemann-Pick Disease Type C (NPC)
O
P
Q
R
S
T
U
V
W
X
Y
Z
0
1
15q11.2 Microdeletion Syndrome
