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A
Acanthamoeba Keratitis (AK)Alkaptonuria (AKU)Allan Herndon Dudley Syndrome MCT8 (AHDS)Alstrom SyndromeAlternating Hemiplegia (AHC)AmyloidosisAortic DissectionApert Syndrome (AS)Atypical Hemolytic Uremic Syndrome (aHUS)B
Behcet’s SyndromeBrown-Vialetto-Van Laere Syndrome (BVVLS)C
Castleman Disease (CD)Choroideremia (CHM)Chromosome 18 AbnormalitiesCoats DiseaseCobb SyndromeCone-rod Dystrophies (CRD)Congenital Disorders Of Glycosylation (CDG)CryoglobulinemiaCryopyrin Associated Periodic Syndromes (CAPS, MWS, NOMID/CINCA)Cutis Marmorata Telangiectatica Congenita (CMTC)CystinosisD
Dravet SyndromeDysNetE
Ectodermal DysplasiaEEC SyndromeEhlers-Danlos Syndrome (EDS)Epidermolysis Bullosa (EB)Erdheim-Chester Disease (ECD)Evans SyndromeF
Familial Mediterranean Fever (FMF)Fetal AntiConvulsant Syndromes (FACS)Fibromuscular Dysplasia (FMD)FOXP1G
Glut1 DSH
Hemiconvulsion-hemiplegia-epilepsy Syndrome (HHE)Hereditary Leiomyomatosis And Renal Cell Cancer (HLRCC)Hereditary Spastic Paraplegia (HSP)I
Idiopathic Pulmonary Fibrosis (IPF)K
Kallmann Syndrome (KS)Kleefstra Syndrome (Ks)L
Leber Hereditary Optic Neuropathy (LHON)Leigh SyndromeLipodystrophyLipoprotein Lipase Deficiency (LPLD)Lowe SyndromeLymphangioleiomyomatosis (LAM)
M
Malignant Infantile Osteopetrosis (MIOP)Marinesco-Sjogren Syndrome (MSS)Mastocytosis And Mast Cell Activation DisordersMoebius SyndromeMoyamoya DiseaseMultiple Endocrine Neoplasia (MEN)Multiple MyelomaMultiple System Atrophy (MSA)Myasthenia Gravis (MG)MyositisN
NarcolepsyNeuroacanthocytosis (NA)Neurodegeneration With Brain Iron Accumulation (NBIA)Neurofibromatosis Type 1 (NF1)Neurofibromatosis Type 2 And Schwannomatosis (NF2)Niemann-Pick Disease Type CP
Paraneoplastic Neurological Syndrome (PNS)Pemphigus And PemphigoidPitt Hopkins Syndrome (PTHS)Pityriasis Rubra Pilaris (PRP)Pontine Tegmental Cap Dysplasia (PTCD)PorphyriaPrimary Orthostatic Tremor (POT)Primary Sclerosing Cholangitis (PSC)Propionic Acidemia (PA)Pseudomyxoma Peritonei (PMP)Pulmonary Hypertension (PH)R
Rett SyndromeRing Chromosome 20 Syndrome (Ring 20)S
Sanfilippo Syndrome (MPS III)Spontaneous Coronary Artery Dissection (SCAD)Stargardt DiseaseStiff Person Syndrome (SPS)T
TNF Receptor-Associated Periodic Fever Syndrome (TRAPS)Trichorhinophalangeal Syndrome (TRPS)Trimethylaminuria (TMAU)U
Undiagnosed DiseasesUrea Cycle Disorders (UCD)V
VasculitisVon Hippel-Lindau (VHL)W
Waldenstrom Macroglobulinemia (WM)WHIM Syndrome (WHIM)Williams Syndrome
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