Search by rare disease below. Rare disease information pages are being developed in consultation with rare disease organisations and experts in Australia where available.
More information and rare disease pages will be added to the Rare Awareness Rare Education (RARE Portal) in time. If you are unable to find the rare disease you are looking for, the page may be in development or is still to be developed. 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.
A more exhaustive list of rare disease information pages can be found at the Genetic and Rare Diseases (GARD) Information Center and Orphanet websites.
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
Addison’s Disease (Primary Adrenal Insufficiency)
Agenesis of the corpus callosum
Alpha-1 Antitrypsin Deficiency (A1AD)
Amino Acid Disorders (Group of Conditions)
Argininosuccinic Aciduria (ASA)
Aromatic L-amino Acid Decarboxylase (AADC) Deficiency
B
Batten Disease (Neuronal Ceroid Lipofuscinosis)
Bone Marrow Failure Syndromes (Group of Conditions)
C
Childhood Dementia Disorders (Group of Conditions)
Congenital contractural arachnodactyly
Congenital Myasthenic Syndromes (CMS)
Congenital Rubella Syndrome (CRS)
Congenital Varicella Syndrome (CVS)
Corpus Callosum Disorders (CCD) (Group of Conditions)
D
DeSanto-Shinawi Syndrome (DESSH)
Duchenne Muscular Dystrophy (DMD)
E
Ehlers-Danlos syndromes (EDS) (Group of Conditions)
Eosinophilic Gastrointestinal Diseases (EGIDs) (Group of Conditions)
Eosinophilic Granulomatosis with Polyangiitis (EGPA)
Eosinophilic Oesophagitis (EoE)
F
Facioscapulohumeral Muscular Dystrophy (FSHD)
Fibrodysplasia Ossificans Progressiva (FOP)
Fragile X-associated Disorders (Group of Conditions)
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)
Heritable Connective Tissue Disorders (HCTD) (Group of Conditions)
HHV-8 associated Multicentric Castleman Disease (HHV8+MCD)
I
Idiopathic Multicentric Castleman Disease (iMCD)
Immune-Mediated Necrotizing Myopathy (IMNM)
Inborn Errors of Protein Metabolism Disorders (IEpM)
Infantile Dystonia-Parkinsonism
J
K
Klippel-Trénaunay Syndrome (KTS)
L
Lambert Eaton Myasthenic Syndrome (LEMS)
Limb-Girdle Muscular Dystrophy (LGMD) (Group of Conditions)
Limb-Girdle Muscular Dystrophy 2A/R1 (LGMD 2A/R1)
Lysosomal Acid-Lipase Deficiency (LAL-D)
M
Maple Syrup Urine Disease (MSUD)
Mast Cell Activation Syndrome (MCAS)
McCune-Albright Syndrome (MAS)
Mitochondrial Diseases (Group of Conditions)
Mitochondrial Encephalomyopathy, Lactic Acidosis and Stroke-like episodes (MELAS)
Mucopolysaccharidosis Type I (MPS I)
Mucopolysaccharidosis Type II (MPS II)
Mucopolysaccharidosis Type III (MPS III); Sanfilippo Syndrome
Mucopolysaccharidosis Type IVA (MPS IVA)
Mucopolysaccharidosis Type VI (MPS VI)
Muscular Dystrophy (Group of Conditions)
Myositis/Idiopathic Inflammatory Myopathy (Group of Conditions)
N
Niemann-Pick Disease Type C (NPC)
O
Organic Acidaemias (Group of Conditions)
Ornithine Transcarbamylase Deficiency (OTC)
P
Pituitary Conditions (Group of Conditions)
POEMS-associated Multicentric Castleman Disease (POEMS-MCD)
Punctate Inner Choroidopathy (PIC)
Q
R
S
Spinocerebellar Ataxias (Group of Conditions)
T
Tuberous Sclerosis Complex (TSC)
U
Unicentric Castleman Disease (UCD)
Urea Cycle Disorders (Group of Conditions)
V
W
X
Y
Z
0
1
15q11.2 Microdeletion Syndrome
15q11.2-13.1 Duplication Syndrome (Dup15q Syndrome)
