Represented Diseases

Find Your Condition in the CoRDS Registry

In the United States, the National Institutes of Health defines a rare disease as one that affects fewer than 200,000 people. Some 7,000 rare diseases affect 25 million Americans and 350 million people worldwide.

Dr. David Pearce established Coordination of Rare Diseases at Sanford (CoRDS) after learning the benefits of patient registries on research.

Very few rare diseases have dedicated patient registries. The CoRDS registry serves as a central resource for data on rare diseases to accelerate research into those diseases.

Below are the listed diseases currently in our registry, but we represent all 7,000 rare diseases. You can still participate even if you do not have a disease that is listed below.

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Represented Diseases

0-9

  • 10q22.3q23.3 microduplication syndrome
  • 12q24 duplication
  • 15q13.3 microdeletion syndrome
  • 16p11.2p12.2 microdeletion syndrome
  • 16p13.11 microdeletion syndrome
  • 17p11.2 microduplication syndrome
  • 17q11.2 microduplication syndrome
  • 19p13.12 microdeletion syndrome
  • 19p13.13 microdeletion syndrome
  • 1p36 deletion syndrome
  • 1q21.1 microduplication syndrome
  • 1q44 microdeletion syndrome
  • 22q11.2 deletion syndrome
  • 22q11.2 microduplication syndrome
  • 2q23.1 microdeletion syndrome
  • 2q33.1 microdeletion syndrome
  • 2q37 microdeletion syndrome
  • 3-methylglutaconic aciduria
  • 3q26 microduplication syndrome
  • 4-hydroxybutyric aciduria
  • 45,X/46,XY mixed gonadal dysgenesis
  • 4p Deletion Syndrome
  • 4p Deletion Syndrome, Non-Wolf-Hirschhorn Syndrome
  • 5q13.3q22.1 duplication
  • 5q14.3 microdeletion syndrome Non-Wolf-Hirschhorn Syndrome
  • 5q35 microduplication syndrome
  • 8p23.1 microduplication syndrome

A

  • ABCD syndrome
  • Absent thumb - short stature – immunodeficiency
  • Aceruloplasminemia
  • Acquired angioedema Acquired ataxia
  • Acquired central diabetes insipidus
  • Acquired chronic primary adrenal insufficiency
  • Acquired idiopathic sideroblastic anemia
  • Acquired myasthenia gravis  
  • Acquired neutropenia
  • Acquired peripheral neuropathy
  • Acquired von Willebrand syndrome
  • Acral peeling skin syndrome
  • Acromegaly
  • Acromesomelic dysplasia
  • Actinic prurigo
  • Activated PIK3-delta syndromea
  • Acute adrenal insufficiency
  • Acute biphenotypic leukemia
  • Acute disseminated encephalomyelitis
  • Acute inflammatory demyelinating polyradiculoneuropathy
  • Acute intermittent porphyria
  • Acute motor-sensory axonal neuropathy
  • Acute motor axonal neuropathy
  • Acute multifocal placoid pigment epitheliopathy
  • Acquired pituitary hormone deficiency
  • Addison disease
  • Adie Syndrome
  • Adiposis dolorosa
  • ADNP-related multiple congenital anomalies-intellectual disability-autism spectrum disorder
  • Adolescent-onset epilepsy syndrome
  • Adrenal incidentaloma
  • Adult hepatocellular carcinoma
  • Adult idiopathic neutropenia
  • Adult-onset distal myopathy due to VCP mutation
  • Adult polyglucosan body disease
  • Adult hypophosphatasia
  • Adult-onset autosomal recessive cerebellar ataxia
  • Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
  • Adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia
  • Agenesis of the corpus callosum - intellectual disability - coloboma – micrognathia
  • AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome
  • Aicardi syndrome
  • Alcohol related ataxia
  • Albright hereditary osteodystrophy
  • Alagille syndrome
  • Alagille syndrome due to a JAG1 point mutation
  • Alagille syndrome due to a NOTCH2 point mutation
  • Alkaptonuria
  • Allan-Herndon-Dudley syndrome
  • Alpha-1-antitrypsin deficiency
  • Alopecia
  • Alopecia universalis
  • Alport syndrome
  • Amelogenesis imperfecta
  • Amyloidosis
  • Amyotrophic lateral sclerosis
  • Amyotrophic lateral sclerosis type 4  Aneurysm - osteoarthritis syndrome  Aniridia
  • Aniridia - cerebellar ataxia - intellectual disability
  • Ankylosing spondylitis
  • Anodontia
  • Anomaly of chromosome 7
  • Anomaly of chromosome 16
  • Anophthalmia - microphthalmia
  • Antiphospholipid syndrome
  • Aorta coarctation
  • Aortic dilatation - joint hypermobility - arterial tortuosity
  • Aplasia of lacrimal and salivary glands
  • Arachnoid cyst Arachnoiditis
  • Arnold-Chiari malformation type I
  • Arterial duct anomaly Arnold-Chiari malformation type II
  • Arterial thoracic outlet syndrome
  • Arteriovenous malformation
  • Atrial septal defect, coronary sinus type
  • Atrial septal defect, ostium secundum type
  • Ataxia - Genetic diagnosis – Unknown
  • Ataxia - oculomotor apraxia type 1
  • Ataxia - Other
  • Ataxia - pancytopenia Ataxia with vitamin E deficiency
  • Ataxia-telangiectasia
  • Atrial tachyarrhythmia with short PR interval
  • Atrial septal aneurysm
  • Atrioventricular canal defect (AVSD)
  • Atypical autism
  • Atypical hemolytic-uremic syndrome
  • Atypical hemolytic-uremic syndrome with C3 anomaly
  • Autoimmune Inner Ear Disease
  • Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
  • Autism spectrum disorder due to AUTS2 deficiency
  • Autoimmune necrotizing myopathy
  • Autoimmune polyendocrinopathy type 1
  • Autoimmune polyendocrinopathy type 2
  • Autoimmune thrombocytopenia
  • Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
  • Autosomal dominant cerebellar ataxia
  • Autosomal dominant cerebellar ataxia type 1
  • Autosomal dominant cerebellar ataxia type 2
  • Autosomal dominant cerebellar ataxia type 3
  • Autosomal dominant cerebellar ataxia, deafness and narcolepsy
  • Autosomal dominant cervical dystonia
  • Autosomal dominant childhood-onset proximal spinal muscular atrophy
  • Autosomal dominant complex spastic paraplegia
  • Autosomal dominant Emery-Dreifuss muscular dystrophy
  • Autosomal dominant hereditary sensory and autonomic neuropathy
  • Autosomal dominant hypophosphatemic rickets
  • Autosomal dominant hyper-IgE syndrome
  • Autosomal dominant Kenny-Caffey syndrome
  • Autosomal dominant limb-girdle muscular dystrophy
  • Autosomal dominant non-syndromic sensorineural deafness type DFNA
  • Autosomal dominant optic atrophy
  • Autosomal dominant palmoplantar keratoderma and congenital alopecia
  • Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
  • Autosomal dominant spastic ataxia
  • Autosomal dominant spastic paraplegia type 4
  • Autosomal dominant spastic paraplegia type 9
  • Autosomal dominant spastic paraplegia type 31
  • Autosomal dominant spinocerebellar ataxia due to a channelopathy
  • Autosomal dominant spinocerebellar ataxia due to a point mutation
  • Autosomal dominant spinocerebellar ataxia due to a polyglutamine anomaly
  • Autosomal dominant spinocerebellar ataxia due to repeat expansions that do not encode polyglutamine
  • Autosomal recessive ataxia, Beauce type
  • Autosomal recessive ataxia due to ubiquinone deficiency
  • Autosomal recessive axonal Charcot-Marie-Tooth disease type 2
  • Autosomal recessive cerebellar ataxia
  • Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency
  • Autosomal recessive cerebellar ataxia due to STUB1 deficiency
  • Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to KIAA0226 deficiency
  • Autosomal recessive cerebellar ataxia with late-onset spasticity
  • Autosomal recessive cerebral atrophy
  • Autosomal recessive complex spastic paraplegia
  • Autosomal recessive congenital ichthyosis
  • Autosomal recessive degenerative and progressive cerebellar ataxia
  • Autosomal recessive hypohidrotic ectodermal dysplasia
  • Autosomal recessive limb-girdle muscular dystrophy type 2A
  • Autosomal recessive myogenic arthrogryposis multiplex congenita
  • Autosomal recessive spastic ataxia of Charlevoix-Saguenay
  • Autosomal recessive spastic paraplegia type 7
  • Autosomal recessive spastic paraplegia type 11
  • Autosomal recessive spastic paraplegia type 39
  • Autosomal recessive systemic lupus erythematosus
  • Avascular necrosis
  • Axenfeld-Rieger syndrome

B

  • Bannayan-Riley-Ruvalcaba syndrome
  • Baroreflex Failure
  • Barrett esophagus
  • Bazex-Dupre-Christol syndrome
  • Beckwith-Wiedemann syndrome
  • Behcet disease
  • Benign essential blepharospasm
  • Benign focal seizures of adolescence
  • Benign paroxysmal tonic upgaze of childhood with ataxia
  • Benign paroxysmal torticollis of infancy
  • Bernard-Soulier syndrome     
  • Best vitelliform macular dystrophy
  • Bicornuate uterus
  • Bilateral renal agenesis
  • Bilateral perisylvian polymicrogyria
  • Biliary atresia
  • Bohring-Opitz syndrome
  • Brachydactyly
  • Brachydactyly - nystagmus - cerebellar ataxia
  • Brain tumor ataxia
  • Bronchial endocrine tumor
  • Brooke-Spiegler syndrome
  • Bruck syndrome
  • Brugada syndrome
  • Bullous systemic lupus erythematosus
  • Burning mouth syndrome

C

  • C3 glomerulonephritis
  • CACH syndrome
  • CACNA1A gene mutation
  • CADASIL
  • Camurati-Engelmann disease
  • Capillary malformation
  • Capillary malformation - arteriovenous malformation
  • Cardiofaciocutaneous syndrome
  • Carotid-Cavernous Fistula
  • Cat-scratch disease
  • Cataract-glaucoma
  • Celiac disease, epilepsy and cerebral calcification syndrome
  • Central areolar choroidal dystrophy
  • Central precocious puberty
  • Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss
  • Cerebellar ataxia, Cayman type
  • Cerebellar ataxia – hypogonadism
  • Cerebellar ataxia - ectodermal dysplasia
  • Cerebellar ataxia with peripheral neuropathy
  • Cerebellar hypoplasia - tapetoretinal degeneration
  • Cerebral malformation
  • Cerebral cavernous malformations
  • Channelopathy due to a voltage-gated potassium channel defect
  • Channelopathy due to a voltage-gated sodium channel defect
  • Charcot-Marie-Tooth disease
  • Charcot-Marie-Tooth disease - deafness - intellectual disability
  • Childhood apraxia of speech
  • Childhood-onset hypophosphatasia
  • Chilblain lupus
  • Choroidermia – hypopituitarism
  • Chromosomal anomaly
  • Chromosome 18q Deletion Syndrome
  • Chronic autoimmune hepatitis
  • Chronic inflammatory demyelinating polyneuropathy
  • Chronic muscular fatigue and/or chronic muscle pain
  • Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis
  • Chronic primary adrenal insufficiency
  • Chronic recurrent multifocal osteomyelitis
  • Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form
  • Classic medulloblastoma
  • Classical homocystinuria
  • Classic stiff person syndrome
  • Cleft lip/palate - intestinal malrotation - cardiopathy
  • Cleft palate
  • CLIPPERS
  • CLN1 disease
  • CLN2 disease
  • CLN3 disease
  • CLN6 disease
  • CLN7 disease
  • CLTC-Related Disorder
  • Coats disease
  • Cockayne syndrome
  • Cockayne syndrome type 1
  • Cockayne syndrome type 2
  • Cockayne syndrome type 3
  • CODAS syndrome
  • Coenzyme Q10 deficiency
  • Coffin-Lowry syndrome
  • Coffin-Siris syndrome
  • Cogan syndrome
  • Collagenous colitis
  • Coloboma of iris
  • Combined cervical dystonia
  • Combined pituitary hormone deficiencies, genetic forms
  • Common variable immunodeficiency
  • Complete androgen insensitivity syndrome
  • Complete atrioventricular canal - Fallot tetralogy
  • Complex hereditary spastic paraplegia
  • Complex regional pain syndrome
  • Complex regional pain syndrome type 1
  • Complex regional pain syndrome type 2
  • Cone rod dystrophy
  • Congenital absence/hypoplasia of thumb
  • Congenital adrenal hyperplasia
  • Congenital chloride diarrhea
  • Congenital communicating hydrocephalus
  • Congenital contractural arachnodactyly
  • Congenital diaphragmatic hernia
  • Congenital disorder of glycosylation
  • Congenital dyserythropoietic anemia
  • Congenital dyserythropoietic anemia type IV
  • Congenital elbow dislocation
  • Congenital Epstein-Barr virus infection
  • Congenital factor II deficiency
  • Congenital glaucoma
  • Congenital great vessels anomaly
  • Congenital heart malformation
  • Congenital hydrocephalus
  • Congenital hypothyroidism
  • Congenital isolated hyperinsulinism
  • Congenital laryngomalacia
  • Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
  • Congenital liver hemangioma
  • Congenital mitral valve insufficiency and/or stenosis
  • Congenital myasthenic syndrome
  • Congenital narrowing of cervical spinal canal
  • Congenital patella dislocation, unilateral
  • Congenital primary lymphedema
  • Congenital pseudoarthrosis of the fibula
  • Congenital pulmonary valve stenosis
  • Congenital pulmonary veins atresia or stenosis
  • Congenital tracheomalacia
  • Congenital vitamin K-dependent coagulation factors deficiency
  • Connective tissue disorder due to lysyl hydroxylase-3 deficiency
  • Continuous spikes and waves during sleep
  • Corneal-cerebellar syndrome
  • Cornelia de Lange syndrome
  • Coronary artery disease - hyperlipidemia - hypertension - diabetes – osteoporosis
  • Cortical dysplasia - focal epilepsy syndrome
  • Corticobasal degeneration
  • Cowden syndrome
  • Cramp Fasciculation syndrome
  • Craniopharyngioman
  • Craniosynostosis
  • Craniosynostosis - Dandy-Walker malformation - hydrocephalus
  • CREST syndrome
  • Crohn disease
  • Cryoglobulinemic vasculitis
  • CTNNB1 Syndrome
  • Cushing syndrome
  • Cushing syndrome due to ectopic ACTH secretion
  • Cutaneous leukocytoclastic angiitis
  • Cutaneous mastocytoma
  • Cutaneous mastocytosis
  • Cutaneous neuroendocrine carcinoma
  • Cutis marmorata telangiectatica congenita
  • Cyclic neutropenia
  • Cystic fibrosis
  • Cytomegalovirus disease in patients with impaired cell mediated immunity deemed at risk

D

  • DEAF1 - Deformed epidermal autoregulatory factor – 1
  • Dementia pugilistica
  • Dementia with Lewy body
  • Dentatorubral pallidoluysian atrophy
  • Dentinogenesis imperfecta
  • Denys-Drash syndrome
  • Dermatomyositis
  • Desminopathy
  • Developmental anomaly of metabolic origin
  • Developmental delay with autism spectrum disorder and gait instability
  • Diastematormyelia
  • Diazoxide-sensitive diffuse hyperinsulinism
  • Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome
  • Diffuse Idiopathic Skeletal Hyperostosis (DISH)
  • Discrete fibromuscular subaortic stenosis
  • Disease predisposing to age-related macular degeneration
  • Disorder of amino acid and other organic acid metabolism
  • Disorder of other vitamins and cofactors metabolism and transport
  • Distal myopathy, Nonaka type
  • Dominant hypophosphatemia with nephrolithiasis or osteoporosis
  • Double outlet right ventricle
  • Dravet syndrome
  • Duane retraction syndrome
  • Duchenne muscular dystrophy
  • Duodenal atresia
  • Duplication/inversion 15q11
  • Dural sinus malformation
  • Dysequilibrium syndrome
  • Dyskeratosis congenita
  • Dyspraxia

E

  • Early-onset autosomal dominant Alzheimer disease
  • Early infantile epileptic encephalopathy
  • Early-onset cerebellar ataxia with retained tendon reflexes
  • Early-onset spastic ataxia-neuropathy syndrome
  • EAST syndrome
  • Ehlers-Danlos syndrome
  • Ehlers-Danlos syndrome due to tenascin-X deficiency
  • Ehlers-Danlos syndrome, kyphoscoliotic type
  • Ehlers-Danlos syndrome with periventricular heterotopia
  • Ehlers-Danlos syndrome type 1
  • Ehlers-Danlos syndrome, classic type
  • Ehlers-Danlos syndrome, hypermobility type
  • Ehlers-Danlos syndrome, kyphoscoliotic and deafness type
  • Ehlers-Danlos syndrome, vascular-like type
  • Ehrlichiosis
  • Electromagnetic Frequency Sensitivity
  • Emanuel syndrome
  • Encephalopathy due to GLUT1 deficiency
  • Enchondromatosis
  • Eosinophilic esophagitis
  • Eosinophilic fasciitis
  • Eosinophilic granulomatosis with polyangiitis
  • Eosinophilic gastroenteritis
  • Ependymoma
  • Epidermal nevus syndrome
  • Epileptic encephalopathy with global cerebral demyelination
  • Episodic ataxia type 1
  • Episodic ataxia type 3
  • Episodic ataxia type 4
  • Episodic ataxia type 5
  • Episodic ataxia type 6
  • Episodic Ataxia Unknown type
  • Epstein syndrome
  • Exposure to Medications Ataxia
  • Excessive fragmentary hypnic myoclonus
  • Erythromelalgia

F

  • Fabry disease
  • Facioscapulohumeral dystrophy
  • Familial adenomatous polyposis
  • Familial amyloid polyneuropathy
  • Familial atypical multiple mole melanoma syndrome
  • Familial bicuspid aortic valve
    Familial clubfoot due
  • Familial dysautonomia
  • Familial hemophagocytic lymphohistiocytosis
  • Familial hypobetalipoproteinemia
  • Familial hypocalciuric hypercalcemia
  • Familial isolated congenital asplenia
  • Familial long QT syndrome
  • Familial Mediterranean fever
  • Familial medullary thyroid carcinoma
  • Familial mitral valve prolapse
  • Familial or sporadic hemiplegic migraine
  • Familial paroxysmal ataxia
  • Familial restrictive cardiomyopathy
  • Familial Scheuermann disease
  • Familial symmetric lipomatosis
  • Familial syringomyelia
  • FBX011 alteration
  • Feingold syndrome
  • Fibromuscular dysplasia of arteries
  • Fibromyalgia
  • Focal, segmental or multifocal dystonia
  • Forestier's Diseases
  • FOXP1 Syndrome
  • Fragile X-associated tremor/ataxia syndrome
  • Fragile X syndrome
  • Free sialic acid storage disease
  • Friedreich ataxia
  • Frontotemporal dementia with motor neuron disease
  • Functional Neurological Disorder (FND)

G

  • GAD ataxia
  • Ganglioneuroblastoma
  • Gastrointestinal stromal tumor
  • Gaucher disease
  • Gaucher disease type 2
  • Generalized pustular psoriasis
  • Genetic hyperparathyroidism
  • Genetic neuromuscular disease
  • Genetic peripheral neuropathy
  • Genetic syndromic Pierre Robin syndrome
  • Giant axonal neuropathy
  • Glaucoma - sleep apnea
  • Gliadin/Gluten ataxia
  • Glossopharyngeal neuralgia
  • Glucose transport disorder
  • Glutaryl-CoA dehydrogenase deficiency
  • Glycogen storage disease due to acid maltase deficiency
  • Glycogen storage disease due to muscle phosphorylase kinase deficiency
  • Goldenhar syndrome
  • Gorlin syndrome
  • Granuloma Annulare
  • Granulomatosis with polyangiitis
  • Griscelli disease type 2
  • Grover Disease
  • Growth Hormone Deficiency

H

  • Harlequin syndrome
  • Hashimoto
  • Hashimoto hypothyroidism
  • Hashimoto thyroiditis
  • Hemochromatosis type 1
  • Hemimegalencephaly
  • Hemoglobin E - beta-thalassemia
  • Hereditary cerebral cavernous malformation
  • Hereditary chronic pancreatitis
  • Hereditary coproporphyria
  • Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia
  • Hereditary episodic ataxia
  • Hereditary essential tremor
  • Hereditary hemorrhagic telangiectasia
  • Hereditary leiomyomatosis and renal cell cancer
  • Hereditary motor and sensory neuropathy
  • Hereditary neuropathy with liability to pressure palsies
  • Hereditary nonpolyposis colon cancer
  • Hereditary proximal myopathy with early respiratory failure
  • Hereditary sensory neuropathy deafness dementia syndrome
  • Hereditary spastic paraplegia
  • Hereditary spherocytosis
  • Hereditary vascular retinopathy
  • Herpes simplex virus keratitis
  • HIVEP2-related intellectual disability
  • Homocystinuria due to methylene tetrahydrofolate reductase deficiency
  • Huntington disease
  • Huntington disease-like 1
  • Hyperacusis (Hyperacousis)
  • Hypernychthemeral syndrome
  • Hypersomnia Associated with a Psychiatric Condition
  • Hypersomnia Due to a Medical Condition
  • Hypersomnolence Disorder
  • Hypertrophic cardiomyopathy
  • Hypnic headache
  • Hypnic jerking
  • Hypobetalipoproteinemia
  • Hypocomplementemic urticarial vasculitis
  • Hypokalemic periodic paralysis
  • Hypomyelination - congenital cataract
  • Hypomyelinating leukodystrophy with or without oligondontia and/or hypogonadism
  • Hypomyelination neuropathy - arthrogryposis
  • Hypomyelination with atrophy of basal ganglia and cerebellum
  • Hypophosphatasia
  • Hypophosphatemic rickets
  • Hypoplasminogenemia
  • Hypoplastic left heart syndrome
  • Hypotonia - failure to thrive - microcephaly
  • Hypotonia-speech impairment-severe cognitive delay syndrome

I

  • Iatrogenic botulism
  • Iatrogenic or traumatic pituitary deficiency
  • Ichthyosis
  • Ichthyosis - hepatosplenomegaly - cerebellar degeneration
  • Idiopathic acute transverse myelitis
  • Idiopathic aplastic anemia
  • Idiopathic avascular necrosis
  • Idiopathic bilateral vestibulopathy
  • Idiopathic eosinophilic pneumonia
  • Idiopathic facial palsy
  • Idiopathic hypersomnia
  • Idiopathic hypersomnia with long sleep time
  • Idiopathic hypersomnia without long sleep time
  • Idiopathic infantile nystagmus
  • Idiopathic inflammatory myopathy
  • Idiopathic intracranial hypertension
  • Idiopathic pulmonary arterial hypertension
  • Idiopathic pulmonary fibrosis
  • Idiopathic syringomyelia
  • Immune thrombocytopenic purpura
  • Immunoglobulin heavy chain deficiency
  • Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency
  • Inclusion body myopathy with Paget disease of boneand frontotemporal dementia
  • Inclusion body myositis
  • Infantile cerebellar-retinal degeneration
  • Infantile hypophosphatasia
  • Infantile neuronal ceroid lipofuscinosis
  • Infection or post infection ataxia
  • Infectious, fungal or parasitic myopathy
  • Inherited congenital spastic tetraplegia
  • Inherited ichthyosis
  • Intellectual disability - alacrima – achalasia
  • Intellectual disability - short stature – h
  • Intellectual disability - hypotonia - spasticity - sleep disorder
  • Intermediate severe Salla disease
  • Internal carotid agenesis
  • Interstitial cystitis
  • Inverse Klippel-Trenaunay syndrome
  • IRIDA syndrome
  • Isaac syndrome
  • Isolated aniridia
  • Isolated brachycephaly
  • Isolated encephalocele
  • Isolated Klippel-Feil syndrome
  • Isolated Pierre Robin syndrome
  • Isolated plagiocephaly
  • Isolated spina bifida

J

  • Jacobsen syndrome
  • Joubert syndrome
  • Juvenile Huntington disease
  • Juvenile idiopathic arthritis
  • Juvenile myasthenia gravis
  • Juvenile myoclonic epilepsy
  • Juvenile neuronal ceroid lipofuscinosis
  • Juvenile polyposis syndrome
  • Juvenile psoriatic arthritis
  • Juvenile rheumatoid factor-positive polyarthritis

K

  • Kabuki syndrome
  • Kallmann syndrome
  • Kawasaki disease
  • KAT6A Syndrome
  • KBG syndrome
  • Keutel syndrome
  • Kennedy disease
  • Kienbock disease
  • Kleefstra syndrome
  • Kleine-Levin syndrome

L

  • Lambert-Eaton myasthenic syndrome
  • Langerhans cell histiocytosis
  • Landau-Kleffner syndrome
  • Late infantile neuronal ceroid lipofuscinosis
  • Late-onset isolated ACTH deficiency
  • Late-onset primary lymphedema
  • Laing early-onset distal myopathy
  • Leber congenital amaurosis
  • Ledderhose disease
  • Left ventricular noncompaction
  • Legionellosis
  • Leigh syndrome
  • Leiomyosarcoma of small intestine
  • Leiomyosarcoma of the cervix uteri
  • Leiomyosarcoma of the corpus uteri
  • Lennox-Gastaut syndrome
  • Leukodystrophy
  • Leukoencephalopathy - ataxia - hypodontia – hypomyelination
  • Leukoencephalopathy with mild cerebellar ataxia and white matter edema
  • Lhermitte-Duclos disease
  • Lichen Sclerosus
  • Limb-girdle muscular dystrophy
  • Linear IgA dermatosis
  • Linear nevus sebaceus syndrome
  • Lissencephaly
  • Lissencephaly with cerebellar hypoplasia
  • Listeriosis
  • Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency   
  • Long qt type 6
  • Lumbosacral spina bifida cystica
  • Lyme disease
  • Lymphomatoid papulosis

M

  • Machado-Joseph disease type 1
  • Machado-Joseph disease type 2
  • Machado-Joseph disease type 3
  • Madras motor neuron disease
  • Maffucci syndrome
  • Malan overgrowth syndrome
  • Manganese poisoning
  • Marfan syndrome
  • Marfan and Marfan-related disorder
  • Marinesco Sjogren Syndrome(Marinesco-Sjogren syndrome)
  • Marshall Syndrome
  • Metabolic disease with intestinal involvement
  • Maternally-inherited Leigh syndrome
  • Mayer-Rokitansky-Kuster-Hauser syndrome
  • McCune-Albright syndrome
  • MED13L Syndrome
  • Medium chain acyl-CoA dehydrogenase deficiency
  • Medullary sponge kidney
  • Megalencephaly-capillary malformation-polymicrogyria syndrome
  • Melorheostosis with osteopoikilosis
  • Meniere disease
  • Meningioma
  • Meningocele
  • MEPEN Syndrome
  • Mesothelioma
  • Metachromatic leukodystrophy, adult form
  • Metaphyseal chondrodysplasia, Jansen type
  • Microcystic lymphatic malformation
  • Microscopic polyangiitis
  • Middle ear myoclonus
  • Miller-Dieker syndrome
  • Miscellaneous movement disorder due to genetic neurodegenerative disease
  • Misophonia
  • Mitochondrial disease
  • Mitochondrial disease with eye involvement
  • Mitochondrial disease with peripheral neuropathy
  • Mixed connective tissue disease
  • Moderate and severe traumatic brain injury
  • MODY
  • Moebius syndrome
  • Mollaret's Meningitis
  • Monomelic amyotrophy
  • Monosomy 18p
  • Monosomy 22q13
  • Morgellons
  • Motor neuron disease
  • Mowat-Wilson syndrome
  • Moyamoya disease
  • Mucinous adenocarcinoma of the appendix
  • Muckle-Wells syndrome
  • Mucolipidosis type 4
  • Mucopolysaccharidosis type 2, severe form
  • Mucopolysaccharidosis type 3
  • Mucopolysaccharidosis type 6
  • Mucopolysaccharidosis type 7
  • Multiple endocrine neoplasia
  • Multiple endocrine neoplasia type 1
  • Multiple endocrine neoplasia type 2A
  • Multiple endocrine neoplasia type 2B
  • Multiple osteochondromas
  • Multiple sclerosis variant
  • Multiple system atrophy
  • Multiple system atrophy, cerebellar type
  • Multiple system atrophy, parkinsonian type
  • MURCS association
  • Muscle filaminopathy
  • Myalgic Encephalomyelitis
  • Myasthenia gravis
  • Mycoplasma encephalitis
  • Myelomeningocele
  • Myofibrillar myopathy
  • Myotonic dystrophy
  • MYT1L Syndrome

N

  • Narcolepsy type 1
  • Narcolepsy type 2
  • Narcolepsy without cataplexy
  • Narcolepsy-cataplexy
  • NARP syndrome
  • Neonatal antiphospholipid syndrome
  • Neurogenic thoracic outlet syndrome
  • Nephroblastoma
  • Nephropathy secondary to a storage or other metabolic disease
  • Neuralgic amyotrophy
  • Neurenteric cyst
  • Neuroblastoma
  • Neurodegeneration with brain iron accumulation
  • Neurodegenerative disease with chorea
  • Neurofibromatosis type 1
  • Neurofibromatosis type 1 due to NF1mutation or intragenic deletion
  • Neurofibromatosis type 2
  • Neurofibromatosis type 3
  • Neurogenic thoracic o
  • Neuronal ceroid lipofuscinosis
  • New daily-persistent headache
  • NLRP12-associated hereditary periodic fever syndrome
  • Non-acquired combined pituitary hormone deficiency
  • Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
  • Non-hereditary degenerative ataxia
  • Non-syndromic congenital cataract
  • Non-syndromic pontocerebellar hypoplasia
  • Noonan syndrome
  • Not NOTCH3-related small vessel disease of the brain

O

  • Ocular motor apraxia, Cogan type
  • Oculocerebrorenal syndrome
  • Odontohypophosphatasia
  • Oligodontia
  • Olivopontocerebellar atrophy - deafness
  • Ondine syndrome
  • Opsoclonus-myoclonus syndrome
  • Optic Nerve Atrophy
  • Optic neuropathy
  • Optic pathway glioma
  • Oral erosive lichen
  • Oroya fever
  • Ornithine transcarbamylase deficiency
  • Osteogenesis imperfecta
  • Osteogenesis imperfecta type 1
  • Osteonecrosis
  • Osteopetrosis
  • Other
  • Other metabolic disease
  • Other acquired skin disease
  • Other metabolic disease with epilepsy
  • Other syndrome with a central nervous system malformation as major feature

P

  • Panhypopituitarism
  • Pancreatic endocrine tumor
  • Paraneoplastic neurologic syndrome
  • Paraplegia - intellectual disability - hyperkeratosis
  • Paris-Trousseau thrombocytopenia
  • Pars Planitis Uveitis
  • Partial acquired lipodystrophy
  • Partial androgen insensitivity syndrome
  • Partial autosomal trisomy/tetrasomy
  • Partial deletion of the long arm of chromosome 1
  • Partial deletion of the long arm of chromosome 18
  • Partial deletion of the long arm of chromosome 22
  • Partial deletion of the short arm of chromosome 3
  • Partial deletion of the short arm of chromosome 4
  • Partial duplication of the long arm of chromosome 22
  • Patent foramen ovale
  • Partial duplication of the short arm of chromosome 4
  • Partial trisomy of the long arm of chromosome 18
  • Papillary or follicular thyroid carcinoma
  • Pemphigus vulgaris
  • Perinatal lethal hypophosphatasia
  • Perineural cyst
  • Periodic fever syndrome
  • Peripartum cardiomyopathy
  • Peroxisome biogenesis disorder-Zellweger syndrome spectrum
  • Perrault syndrome
  • Peters anomaly
  • Peters anomaly – cataract
  • PHACE syndrome
  • Phenylketonuria
  • Phyllode tumor
  • Pierpont Syndrome
  • Pierre Robin syndrome associated with collagen disease
  • Pitt-Hopkins syndrome
  • Pituitary deficiency due to empty sella turcica syndrome
  • PMM2-CDG
  • POEMS syndrome
  • Poland syndrome
  • POLG1
  • Polycythemia vera
  • Polymyalgia rheumatica
  • Polymyositis
  • Polyneuropathy - hearing loss - ataxia - retinitis pigmentosa – cataract
  • Polyostotic fibrous dysplasia
  • Pontine tegmental cap dysplasia
  • Popliteal pterygium syndrome
  • Post-Head Injury Ataxia
  • Posterior column ataxia - retinitis pigmentosa
  • Postpoliomyelitic syndrome
  • Post-Stroke Ataxia
  • Postural Orthostatic Tachycardia Syndrome
  • Potocki-Shaffer syndrome
  • Prader-Willi syndrome
  • Precocious puberty
  • Preeclampsia
  • Prenatal benign hypophosphatasia
  • Primary adrenal insufficiency
  • Primary basilar impression
  • Primary ciliary dyskinesia
  • Primary biliary cirrhosis
  • Primary dystonia, DYT21 type
  • Primary Progressive Multiple Scleoresis
  • Primary sclerosing cholangitis
  • Primary tethered chord syndrome
  • Progressive hemifacial atrophy
  • Progressive multifocal leukoencephalopathy
  • Prolactinoma
  • Progressive supranuclear palsy
  • Propriospinal Myoclonus
  • Proximal 16p11.2 microduplication syndrome
  • Proximal spinal muscular atrophy type 1
  • Proximal spinal muscular atrophy type 3
  • Pseudohypoaldosteronism type 2
  • PTEN hamartoma tumor syndrome
  • Ptosis
  • Pulmonary arterial hypertension
  • Pulmonary interstitial glycogenosis
  • Pulmonary branch stenosis
  • Pulmonary valve agenesis - Fallot`s tetralogy - absence of ductus arteriosus
  • Pure autonomic failure
  • Pycnodysostosis
  • Pyoderma gangrenosum
  • Pyoderma gangrenosum - acne - suppurative hidradenitis

Q

  • Q fever
  • Qualitative or quantitative defects of beta-myosin heavy chain (MYH7)
  • Qualitative or quantitative defects of filamin C
  • Qualitative or quantitative defects of myofibrillar proteins

R

  • Radius absent - anogenital anomalies
  • Rare acquired eye disease
  • Rare adult hypothyroidism
  • Rare diabetes mellitus type 1
  • Rare disease with autism
  • Rare disease in surgical orthopedic
  • Rare disorder with dystonia and other neurologic or systemic manifestation
  • Rare genetic hypothalamic or pituitary disease
  • Rare genetic intellectual disability with developmental anomaly
  • Rare genetic neurological disorder
  • Rare headache
  • Rare hereditary hemochromatosis
  • Rare hereditary ataxia
  • Rare hyperparathyroidism
  • Rare inflammatory bowel disease
  • Rare movement disorder
  • Rare pervasive developmental disorder
  • Rare pulmonary hypertension
  • Rare rheumatologic disease
  • Rare surgical neurologic disease
  • Rare uterine cancer
  • Reactive arthritis
  • Recessive mitochondrial ataxia syndrome
  • Recurrent infections associated with rare immunoglobulin isotypes deficiency
  • Refractory celiac disease
  • Relapsing fever
  • Relapsing polychondritis
  • Renal nutcracker syndrome
  • Renal or urinary tract malformation
  • Retinitis pigmentosa
  • Retinoblastoma
  • Rett syndrome
  • Rhombencephalosynapsis
  • Rickettsial disease
  • Right inferior vena cava connecting to left-sided atrium
  • Ring chromosome 14
  • Rocky Mountain spotted fever
  • Romano-Ward syndrome
  • Ross Syndrome
  • RUVBL2 mutation

S

  • Sanfilippo syndrome type A
  • Sanfilippo syndrome type B
  • SAPHO syndrome
  • Sarcoidosis
  • Schinzel-Giedion syndrome
  • Scleredema
  • Scleroderma
  • Secondary hemophagocytic lymphohistiocytosis
  • Secondary syringomyelia
  • Selective IgM deficiency
  • Semicircular canal dehiscence syndrome
  • Sensorineural hearing loss - early graying - essential tremor
  • Sensory ataxic neuropathy - dysarthria – ophthalmoparesis
  • Shone complex
  • Sickle cell - beta-thalassemia disease
  • Silver-Russell syndrome
  • Simple cryoglobulinemia
  • Sjoumlgren syndrome
  • Sleep disorder
  • Sleep myoclonus
  • Smith-Lemli-Opitz syndrome
  • Solar urticaria
  • Solitary median maxillary central incisor syndrome
  • Spastic ataxia
  • Spinal cord injury
  • Spinal muscular atrophy associated with central nervous system anomaly
  • Spinal muscular atrophy with respiratory distress type 1
  • Spinocerebellar ataxia – Unknown
  • 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 22
  • Spinocerebellar ataxia type 28
  • Spinocerebellar ataxia type 29
  • Spinocerebellar ataxia type 3
  • Spinocerebellar ataxia type 31
  • Spinocerebellar ataxia type 34
  • Spinocerebellar ataxia type 35
  • Spinocerebellar ataxia type 36
  • Spinocerebellar ataxia type 38
  • Spinocerebellar ataxia type 4
  • Spinocerebellar ataxia type 40
  • Spinocerebellar ataxia type 42
  • Spinocerebellar Ataxia Type 44
  • Spinocerebellar ataxia type 5
  • Spinocerebellar ataxia type 6
  • Spinocerebellar ataxia type 7
  • Spinocerebellar ataxia type 8
  • Spinocerebellar ataxia type 20
  • Spinocerebellar ataxia with axonal neuropathy type 2
  • Spinocerebellar ataxia with oculomotor anomaly
  • Sporadic adult-onset ataxia of unknown etiology
  • Sprengel deformity
  • Steinert myotonic dystrophy
  • Sternal cleft
  • Steroid-responsive encephalopathy associated with autoimmune thyroiditis
  • Stevens-Johnson syndrome
  • Stickler syndrome
  • Stickler syndrome type 1
  • Stickler syndrome type 2
  • Stickler syndrome type 3
  • Stiff person syndrome and related disorders
  • Superior Mesenteric Artery Syndrome
  • Supravalvular aortic stenosis
  • Susceptibility to chronic infection by Epstein-Barr virus
  • Syndrome associated with Pierre Robin syndrome
  • Syndrome with hypoparathyroidism
  • Syndromic aniridia
  • Syringomyeli
  • Systemic capillary leak syndrome
  • Systemic disease with cataract
  • Systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood
  • Systemic mastocytosis
  • Systemic sclerosis      

T

  • Tay-Sachs disease
  • Temporomandibular joint anomaly
  • Tetanus
  • Thomsen and Becker disease
  • Thoracic outlet syndrome
  • Thrombotic thrombocytopenic purpura
  • Tolosa-Hunt syndrome
  • Tornwaldt Cyst
  • Toxic Exposure ataxia
  • Transposition of the great arteries
  • Treacher-Collins syndrome
  • Trench fever
  • Trigeminal autonomic cephalalgia
  • Trigeminal neuralgia
  • TRIM63
  • Trisomy X
  • TUBB2A mutation
  • Tuberous sclerosis
  • Tumor of cranial and spinal nerves
  • Tumor necrosis factor receptor 1 associated periodic syndrome
  • Turner syndrome
  • Type II mixed cryoglobulinemia
  • Typical urticaria pigmentosa

U

  • Undetermined colitis
  • Unclassified autosomal dominant spinocerebellar ataxia
  • Unclassified juvenile idiopathic arthritis
  • Unclassified overlapping connective tissue disease
  • Undiagnosed
  • Undifferentiated connective tissue syndrome
  • Unknown leukodystrophy
  • Uveal melanoma
  • Uveitis
  • Unexplained periodic fever syndrome

V

  • Vascular malformation
  • Van der Woude syndrome
  • VCP Disease
  • Ventricular septal defect
  • Very long chain acyl-CoA dehydrogenase deficiency
  • Vestibular schwannoma
  • Vitamin B12 Deficiency Ataxia
  • Vitiligo-associated autoimmune disease
  • Von Willebrand disease type 2B

W

  • WAGR syndrome
  • Waldenstrom macroglobulinemia
  • West-Nile encephalitis
  • West syndrome
  • Wiedemann-Steiner syndrome
  • Wildervanck syndrome
  • Williams syndrome
  • White matter hypoplasia - corpus callosum agenesis - intellectual disability
  • Wolf-Hirschhorn syndrome
  • Wolfram syndrome

X

  • Xeroderma pigmentosum-Cockayne syndrome complex
  • X-linked adrenoleukodystrophy
  • X-linked hypophosphatemia
  • X-linked lymphoproliferative disease
  • X-linked mixed deafness with perilymphatic gusher
  • X-linked progressive cerebellar ataxia          

Z

  • Zellweger syndrome
  • Zollinger-Ellison syndrome
  • ZYMND11 alteration

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