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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