Coordination of rare diseases at sanford

3-methylglutaconic aciduria type 5 4p16.3 microduplication syndrome achalasia microcephaly syndrome acquired ataxia acrodysostosis activated PI3K-delta syndrome adult hypophosphatasia adult Refsum disease adult-onset myasthenia gravis Alagille syndrome Alstrom syndrome anal fistula aniridia aniridia - intellectual disability syndrome Aniridia, Partial, with Unilateral Renal Agenesis and Psychomotor Retardation aniridia-absent patella syndrome aniridia-cerebellar ataxia-intellectual disability syndrome aniridia-ptosis-intellectual disability-familial obesity syndrome aniridia-renal agenesis-psychomotor retardation syndrome arginase deficiency atactic disorder Ataxia ataxia - telangiectasia variant ataxia neuropathy spectrum ataxia telangiectasia ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia Ataxia-Telangiectasia Variant ataxia-telangiectasia-like disorder atypical hemolytic-uremic syndrome autosomal dominant cerebellar ataxia autosomal dominant cerebellar ataxia type I autosomal dominant cerebellar ataxia type III autosomal dominant cerebellar ataxia type IV autosomal dominant cerebellar ataxia, deafness and narcolepsy autosomal dominant optic atrophy autosomal dominant spastic ataxia autosomal recessive ataxia due to PEX10 deficiency autosomal recessive ataxia due to ubiquinone deficiency autosomal recessive ataxia, Beauce type autosomal recessive cerebellar ataxia autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome autosomal recessive cerebellar ataxia with late-onset spasticity autosomal recessive cerebellar ataxia-saccadic intrusion syndrome autosomal recessive congenital cerebellar ataxia autosomal recessive degenerative and progressive cerebellar ataxia autosomal recessive metabolic cerebellar ataxia autosomal recessive spastic ataxia autosomal recessive spinocerebellar ataxia 10 autosomal recessive spinocerebellar ataxia 12 autosomal recessive spinocerebellar ataxia 13 autosomal recessive spinocerebellar ataxia 15 autosomal recessive spinocerebellar ataxia 16 autosomal recessive spinocerebellar ataxia 18 autosomal recessive spinocerebellar ataxia 7 autosomal recessive syndromic cerebellar ataxia Axenfeld-Rieger syndrome Beckwith-Wiedemann syndrome Behcet disease benign paroxysmal tonic upgaze of childhood with ataxia beta-mannosidosis biliary atresia Blau syndrome Bohring-Opitz syndrome Borjeson-Forssman-Lehmann syndrome brachydactyly-nystagmus-cerebellar ataxia syndrome brain abnormalities, neurodegeneration, and dysosteosclerosis breast implant-associated anaplastic large cell lymphoma bulbospinal muscular atrophy cataract-ataxia-deafness syndrome cauda equina syndrome Cayman type cerebellar ataxia cerebellar ataxia cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome cerebellar ataxia-ectodermal dysplasia syndrome cerebellar ataxia-hypogonadism syndrome Charlevoix-Saguenay spastic ataxia childhood hypophosphatasia chromosome 1p36 deletion syndrome chronic primary adrenal insufficiency chronic recurrent multifocal osteomyelitis Cockayne syndrome Coffin-Lowry syndrome congenital sucrase-isomaltase deficiency Cornelia de Lange syndrome CSF1R-related disorder Currarino triad cystinosis Cystinosis, Infantile Nephropathic De Lange Syndrome Deafness Denys-Drash syndrome developmental and epileptic encephalopathy, 31A diffuse scleroderma dimethylglycine dehydrogenase deficiency disorder of glycogen metabolism Disorders of Excessive Somnolence dysosteosclerosis dystonia 9 early-onset cerebellar ataxia with retained tendon reflexes Emanuel syndrome Eosinophilic enteropathy eosinophilic gastroenteritis episodic ataxia type 1 episodic ataxia type 2 episodic ataxia type 3 episodic ataxia type 4 episodic ataxia type 5 episodic ataxia type 6 episodic ataxia type 7 episodic ataxia type 8 Episodic Ataxia, Type 1 Esophageal Achalasia facial hemiatrophy familial caudal dysgenesis familial isolated congenital asplenia familial isolated deficiency of vitamin E fragile X-associated tremor/ataxia syndrome Frasier syndrome Friedreich ataxia frontotemporal dementia glycine encephalopathy Growth Deficiency and Mental Retardation with Facial Dysmorphism Halitosis hemophagocytic syndrome hereditary ataxia hereditary episodic ataxia hereditary sensory and autonomic neuropathy hereditary sensory neuropathy-deafness-dementia syndrome Hirschsprung disease hyperacusis Hyperglycinemia, Nonketotic hypertrophic olivary degeneration hypophosphatasia Hypophosphatasia, Adult Hypophosphatasia, Perinatal Lethal idiopathic achalasia idiopathic gastroparesis idiopathic hypersomnia idiopathic hypersomnia with long sleep time idiopathic hypersomnia without long sleep time inborn mitochondrial metabolism disorder inclusion body myopathy with Paget disease of bone and frontotemporal dementia inclusion body myopathy with Paget disease of bone and frontotemporal dementia type 1 infantile hypophosphatasia Infections intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome intellectual disability-sparse hair-brachydactyly syndrome intestinal pseudo-obstruction isolated aniridia juvenile myasthenia gravis juvenile nephropathic cystinosis Kabuki syndrome Kawasaki disease KBG syndrome Kennedy disease Kleine-Levin syndrome Klippel-Feil syndrome Lambert-Eaton myasthenic syndrome laryngeal papillomatosis Leber congenital amaurosis Leigh syndrome leiomyosarcoma leiomyosarcoma of the cervix uteri leiomyosarcoma of the corpus uteri Lesch-Nyhan syndrome leukodystrophy leukoencephalopathy with calcifications and cysts leukoencephalopathy, diffuse hereditary, with spheroids 1 Lyme disease Lymphohistiocytosis, Hemophagocytic Machado-Joseph disease Machado-Joseph disease type 1 Machado-Joseph disease type 2 Machado-Joseph disease type 3 Malan overgrowth syndrome Marinesco-Sjogren syndrome maternally-inherited Leigh syndrome metachromatic leukodystrophy metaphyseal chondrodysplasia, Jansen type mismatch repair cancer syndrome 1 mitochondrial disease Mollaret’s meningitis Moyamoya disease mucolipidosis mucolipidosis type IV multiple endocrine neoplasia multiple endocrine neoplasia type 1 multiple endocrine neoplasia type 2 multiple endocrine neoplasia type 2A multiple endocrine neoplasia type 2B multiple endocrine neoplasia type 4 multiple system atrophy multiple system atrophy, cerebellar type multiple system atrophy, parkinsonian type multisystemic smooth muscle dysfunction syndrome Muscle Spasticity Muscular Atrophy, Ataxia, Retinitis Pigmentosa, and Diabetes Mellitus myasthenia gravis Myhre syndrome Myoclonus myoclonus-cerebellar ataxia-deafness syndrome myopathy, myofibrillar, 9, with early respiratory failure narcolepsy narcolepsy without cataplexy narcolepsy-cataplexy syndrome NARP syndrome Neglected Diseases neonatal myasthenia gravis nephropathic cystinosis Nerve Degeneration Neuronal Ceroid-Lipofuscinoses neuropathy, hereditary sensory and autonomic, type IId oculocerebrorenal syndrome oculopharyngeal muscular dystrophy odontohypophosphatasia Olivary Degeneration olivopontocerebellar atrophy-deafness syndrome perinatal lethal hypophosphatasia peroxisome biogenesis disorder 4B Peters anomaly PHARC syndrome Pierpont syndrome Pitt-Hopkins syndrome Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly posterior column ataxia-retinitis pigmentosa syndrome Potocki-Shaffer syndrome prenatal benign hypophosphatasia primary adrenal insufficiency primary biliary cholangitis Pyruvate Dehydrogenase Complex Deficiency Disease pyruvate dehydrogenase deficiency Rare Diseases recessive mitochondrial ataxia syndrome recurrent respiratory papillomatosis retinitis pigmentosa Sacral Agenesis Syndrome Sacral defect and anterior sacral meningocele Scheuermann disease scleroderma severe primary trimethylaminuria short bowel syndrome silver-Russell syndrome due to 11p15 microduplication silver-Russell syndrome due to an imprinting defect of 11p15 silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 Skraban-Deardorff syndrome small intestine leiomyosarcoma spastic ataxia spastic ataxia 1 spastic ataxia 3 spastic ataxia 4 spastic ataxia 7 spastic ataxia-corneal dystrophy syndrome spasticity-ataxia-gait anomalies syndrome spinocerebellar ataxia 7 Spinocerebellar ataxia 8 spinocerebellar ataxia type 1 spinocerebellar ataxia type 10 spinocerebellar ataxia type 11 spinocerebellar ataxia type 12 spinocerebellar ataxia type 13 spinocerebellar ataxia type 14 spinocerebellar ataxia type 15/16 spinocerebellar ataxia type 17 spinocerebellar ataxia type 18 spinocerebellar ataxia type 19/22 spinocerebellar ataxia type 2 spinocerebellar ataxia type 20 spinocerebellar ataxia type 21 spinocerebellar ataxia type 23 spinocerebellar ataxia type 25 spinocerebellar ataxia type 26 spinocerebellar ataxia type 27 spinocerebellar ataxia type 28 spinocerebellar ataxia type 29 spinocerebellar ataxia type 30 spinocerebellar ataxia type 31 spinocerebellar ataxia type 32 spinocerebellar ataxia type 34 spinocerebellar ataxia type 35 spinocerebellar ataxia type 36 spinocerebellar ataxia type 37 spinocerebellar ataxia type 4 spinocerebellar ataxia type 5 spinocerebellar ataxia type 6 spinocerebellar ataxia type 8 spinocerebellar ataxia with epilepsy spinocerebellar ataxia, autosomal recessive 23 Spinocerebellar Ataxia, Autosomal Recessive 8 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 spinocerebellar ataxia-dysmorphism syndrome Spinocerebellar Ataxias Spinocerebellar Degenerations sporadic adult-onset ataxia of unknown etiology Stickler syndrome Stickler syndrome type 1 Stickler syndrome type 2 syndromic disease transient global amnesia transient neonatal myasthenia gravis trimethylaminuria triple-A syndrome viral meningitis WAGR syndrome Warburg micro syndrome Warburg Sjo Fledelius syndrome Wiedemann-Steiner syndrome Williams syndrome Wolf-Hirschhorn syndrome X-linked cerebellar ataxia X-linked intellectual disability-ataxia-apraxia syndrome X-linked intellectual disability-cerebellar hypoplasia syndrome X-linked non progressive cerebellar ataxia X-linked progressive cerebellar ataxia X-linked spinocerebellar ataxia type 3 X-linked spinocerebellar ataxia type 4