A-Z Rare Diseases

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.

A

Aarskog-Scott Syndrome

Acalvaria

Acrodysostosis

Addison’s Disease

Aicardi Syndrome

Alpha-1 Antitrypsin Deficiency (A1AD)

Angelman Syndrome (AS)

Aromatic L-amino Acid Decarboxylase (AADC) Deficiency

Ataxia-telangiectasia

B

Batten Disease

C

CASK-Related Disorders

Childhood Dementia Disorders (Umbrella Group)

Congenital Myasthenic Syndromes (CMS)

Congenital Rubella Syndrome (CRS)

Congenital Varicella Syndrome (CVS)

Cutaneous Mastocytosis

D

Dermatomyositis

DeSanto-Shinawi Syndrome (DESSH)

Duchenne Muscular Dystrophy (DMD)

E

F

Fabry Disease

Facioscapulohumeral Muscular Dystrophy (FSHD)

Fanconi Anaemia (FA)

Fibrodysplasia Ossificans Progressiva (FOP)

Fibromuscular Dysplasia (FMD)

Fibrous Dysplasia (FD)

FOXG1 syndrome

Fragile X Syndrome

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)

Friedreich Ataxia (FA)

G

Gaucher Disease

H

Hereditary Spastic Paraplegia (SPG)

I

Immune-Mediated Necrotizing Myopathy (IMNM)

Inclusion Body Myositis (IBM)

J

Juvenile Myositis

K

L

Lambert Eaton Myasthenic Syndrome (LEMS)

Limb-Girdle Muscular Dystrophy (LGMD)

M

Mast Cell Activation Syndrome (MCAS)

Mast Cell Disorders

Mast Cell Sarcoma

Mastocytosis

McCune-Albright Syndrome (MAS)

Myasthenia Gravis

Myositis

N

Niemann-Pick Disease Type C (NPC)

O

Overlap Myositis

P

Phenylketonuria (PKU)

Polymyositis

Q

Q Fever

R

S

Scleroderma

Systemic Mastocytosis

T

U

V

W

X

Y

Z


0

1

15q Duplication Syndrome

15q11.2 Microdeletion Syndrome

2

3

4

5

6

7

8

9


Other