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.

15q 26.2 Deletion

48,XXYY Syndrome

Abetalipoproteinemia

Acute Hepatic Porphyria/Acute Intermittent Porphyria (AIP)

Acute Flaccid Myelitis (AFM)

Adrenomyeloneuropathy

Antisynthetase Syndrome

Alternating Hemiplagia of Childhood

Alstrom Syndrome

Aromatic L-Amino Acid Decarboxylase (AADC) Deficiency

Atypical Hemolytic Uremic Syndrome

Ancylostomiasis

Batten Disease

Birdshot Chorioretinopathy

Brugada Syndrome

Chromosome 4q Deletion Syndrome

Chronic Progressive External Ophthalmoplegia (CPEO)

Common Variable Immunodeficiency

Creutzfeldt Jakob Disease

Dopamine-Responsive Dystonia

Duchenne Muscular Dystrophy (DMD)

Ehlers-Danlos Syndrome (EDS)

Encephalocele

Fibrodysplasia Ossificans Progressiva (FOP)

Galactosialidosis

GRIN1-Related Neurodevelopmental Disorder (GRIN1-NDD)

Hereditary Hemorrhagic Telangiectasia (HHT)

Hyperemesis Gravidarum

Idiopathic Hypersomnia (IH)

Infantile Neuroaxonal Dystrophy (INAD)

Kearns-Sayre Syndrome (KSS)

Malignant Peripheral Nerve Sheath Tumors

McArdle Disease

Moyamoya

Morgellons

Muckle-Wells Syndrome

Neurofibromatosis 1 (NF1)

Neurofibromatosis 2 (NF2)

Neuromyelitis Optica Spectrum Disorder (NMOSD)

Pachygyria

Pachyonychia Congenita

Pallister-Hall Syndrome

Pallister-Killian Syndrome (PKS)

Panhypopituitarism

Papillon-Lefevre Syndrome (PLS)

Paramyotonia Congenita (PMC)

Paraneoplastic Cerebellar Degeneration (PCD)

Paraneoplastic Limbic Encephalitis (PLE)

Parapsoriasis

Patau Syndrome (Trisomy 13)

Pediatric Autoimmune Neuropsychiatric Disorder Associated with Streptococcus (PANDAS)

Peripartum Cardiomyopathy (PPCM)

Pompe Disease

Sarcoidosis

Sjogren’s Syndrome

Smith-Magenis Syndrome (SMS)

Syringomyelia

Systemic Capillary Leak Syndrome

TFE3-Associated Neurodevelopmental Disorder (TFE3)

Wilson’s Disease

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