Site Map

Communities

Alkaptonuria (AKU)

Allan Herndon Dudley Syndrome MCT8 (AHDS)

Alstrom Syndrome

Alternating Hemiplegia (AHC)

Amyloidosis

Aortic dissection

Apert Syndrome (AS)

Atypical Hemolytic Uremic Syndrome (aHUS)

Behcet’s Syndrome

Brown-Vialetto-Van Laere syndrome (BVVLS)

Castleman Disease (CD)

Choroideremia (CHM)

Chromosome 18 abnormalities

Coats Disease

Cobb syndrome

Cone-rod dystrophies (CRD)

Congenital Disorders of Glycosylation (CDG)

Cryoglobulinemia

Cryopyrin Associated Periodic Syndromes (CAPS, MWS, NOMID/CINCA)

Cutis marmorata telangiectatica congenita (CMTC)

Cystinosis

Dravet Syndrome

DysNet

Ectodermal Dysplasia

EEC syndrome

Ehlers-Danlos Syndrome (EDS)

Epidermolysis Bullosa (EB)

Erdheim-Chester Disease (ECD)

Evans Syndrome

Familial Mediterranean Fever (FMF)

Fetal AntiConvulsant Syndromes (FACS)

Fibromuscular Dysplasia (FMD)

FOXP1

Glut1 DS

Hemiconvulsion-hemiplegia-epilepsy syndrome (HHE)

Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC)

Hereditary Spastic Paraplegia (HSP)

Idiopathic Pulmonary Fibrosis (IPF)

Kallmann syndrome (KS)

Leber hereditary optic neuropathy (LHON)

Leigh Syndrome

Lipodystrophy

Lipoprotein Lipase Deficiency (LPLD)

Lowe Syndrome

Lymphangioleiomyomatosis (LAM)

Malignant Infantile Osteopetrosis (MIOP)

Marinesco-Sjogren Syndrome (MSS)

Mastocytosis and Mast Cell Activation Disorders

Moebius syndrome

Moyamoya disease

Multiple Endocrine Neoplasia (MEN)

Multiple Myeloma

Multiple System Atrophy (MSA)

Myasthenia Gravis (MG)

Narcolepsy

Neuroacanthocytosis

Neurodegeneration with Brain Iron Accumulation (NBIA)

Neurofibromatosis type 1 (NF1)

Neurofibromatosis type 2 and Schwannomatosis (NF2)

Niemann-Pick disease type C

Paraneoplastic Neurological syndrome (PNS)

Pemphigus and Pemphigoid

Pitt Hopkins syndrome (PTHS)

Pityriasis Rubra Pilaris (PRP)

Pontine Tegmental Cap Dysplasia (PTCD)

Porphyria

Primary Orthostatic Tremor (POT)

Primary Sclerosing Cholangitis (PSC)

Propionic Acidemia (PA)

Pseudomyxoma Peritonei (PMP)

Pulmonary hypertension (PH)

Rett Syndrome

Ring chromosome 20 syndrome (Ring 20)

Sanfilippo Syndrome (MPS III)

Spontaneous Coronary Artery Dissection (SCAD)

Stargardt disease

Stiff Person Syndrome (SPS)

Trichorhinophalangeal syndrome (TRPS)

Trimethylaminuria (TMAU)

Tumor Necrosis Factor Receptor-Associated Periodic Fever Syndrome (TRAPS)

Undiagnosed diseases

Urea Cycle Disorders (UCD)

Vasculitis

Von Hippel-Lindau (VHL)

Waldenstrom Macroglobulinemia (WM)

WHIM Syndrome (WHIM)

Williams Syndrome