Site Map

Communities

Acanthamoeba keratitis (AK)

Adrenal Insufficiency

Alkaptonuria (AKU)

Allan Herndon Dudley Syndrome MCT8 (AHDS)

Alstrom Syndrome

Alternating Hemiplegia (AHC)

Amyloidosis

Aortic dissection

Apert Syndrome (AS)

Arachnoiditis (ARC)

Atypical Hemolytic Uremic Syndrome (aHUS)

Autoimmune lymphoproliferative syndrome (ALPS)

Behcet’s Syndrome

Brown-Vialetto-Van Laere syndrome (BVVLS)

Castleman Disease (CD)

Choroideremia (CHM)

Chromosome 18 abnormalities

Chronic Recurrent Multifocal Osteomyelitis (CRMO)

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

Down Syndrome

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 Sensory and Autonomic Neuropathies (HSAN)

Hereditary Spastic Paraplegia (HSP)

Idiopathic Pulmonary Fibrosis (IPF)

Kallmann syndrome (KS)

Kleefstra syndrome (Ks)

Leber hereditary optic neuropathy (LHON)

Leigh Syndrome

Lipodystrophy

Lipoprotein Lipase Deficiency (LPLD)

Liposarcoma

Lowe Syndrome

Lymphangioleiomyomatosis (LAM)

Lymphangiomatosis and Gorham's Disease (LGD)

Lysosomal acid lipase deficiency (LAL D)

Malignant Infantile Osteopetrosis (MIOP)

Marinesco-Sjogren Syndrome (MSS)

Mastocytosis and Mast Cell Activation Disorders

Melkersson-Rosenthal Syndrome (MRS)

Moebius syndrome

Moyamoya disease

Multiple Endocrine Neoplasia (MEN)

Multiple Myeloma

Multiple System Atrophy (MSA)

Myasthenia Gravis (MG)

Myhre syndrome

Myositis

Narcolepsy

Neuroacanthocytosis (NA)

Neurodegeneration with Brain Iron Accumulation (NBIA)

Neurofibromatosis type 1 (NF1)

Neurofibromatosis type 2 and Schwannomatosis (NF2)

Neuromyelitis Optica (NMO)

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

Stickler syndrome

Stiff Person Syndrome (SPS)

TNF Receptor-Associated Periodic Fever Syndrome (TRAPS)

Trichorhinophalangeal syndrome (TRPS)

Trimethylaminuria (TMAU)

Undiagnosed diseases

Urea Cycle Disorders (UCD)

Vasculitis

Von Hippel-Lindau (VHL)

Waldenstrom Macroglobulinemia (WM)

WHIM Syndrome (WHIM)

Williams Syndrome