CoRDS Metrics

The CoRDs program continues to grow and expand. Below are some updates on the progress of CoRDS over the past few years, including enrollment numbers, growth charts, represented diseases, and participation from around the world.

Enrollment Numbers

Metrics as of 10/01/2018
5,670 Fully enrolled* participants
219 Eligible** Participants
5,900 Total
917Rare Diseases***
50 US States + DC
63 Countries***

*Informed Consent and Questionnaire Permission & Data-Sharing questions completed
**Informed Consent and Questionnaire pending completion
***From Enrolled participants

Represented Diseases


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 8p23.1 microduplication syndrome
Absent thumb - short stature - immunodeficiency Aceruloplasminemia Acquired angioedema
Acquired ataxia Acquired central diabetes insipidus 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 Addison disease Adie Syndrome
Adiposis dolorosa ADNP-related multiple congenital anomalies-intellectual disability-autism spectrum disorder Adrenal incidentaloma
Adult hepatocellular carcinoma 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 Alkaptonuria
Allan-Herndon-Dudley syndrome Alpha-1-antitrypsin deficiency Alopecia
Alport syndrome Amelogenesis imperfecta Amyloidosis
Amyotrophic lateral sclerosis Aneurysm - osteoarthritis syndrome Aniridia
Aniridia - cerebellar ataxia - intellectual disability Ankylosing spondylitis Anodontia
Anomaly of chromosome 7 Anomaly of chromosome 16 Antiphospholipid syndrome
Aorta coarctation 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
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
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 polycystic kidney disease type 1 with tuberous sclerosis Autosomal dominant spastic paraplegia type 9 Autosomal recessive axonal Charcot-Marie-Tooth disease type 2
Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency Autosomal recessive cerebellar ataxia due to STUB1 deficiency Autosomal recessive hypohidrotic ectodermal dysplasia
Autosomal recessive spastic ataxia of Charlevoix-Saguenay Autosomal dominant spastic ataxia Autosomal dominant spastic paraplegia type 31
Autosomal dominant spastic paraplegia type 4 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 due to ubiquinone deficiency
Autosomal recessive ataxia, Beauce type Autosomal recessive cerebellar ataxia 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 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 Babesiosis Bannayan-Riley-Ruvalcaba syndrome
Baroreflex Failure Barrett esophagus 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 perisylvian polymicrogyria
Biliary atresia Bohring-Opitz syndrome Brachydactyly
Brain tumor ataxia Bronchial endocrine tumor Brooke-Spiegler syndrome
Bruck syndrome Brugada syndrome Bullous systemic lupus erythematosus
Burning mouth syndrome CACH syndrome CACNA1A gene mutation
Camurati-Engelmann disease Capillary malformation Capillary malformation - arteriovenous malformation
Cat-scratch disease Cardiofaciocutaneous syndrome 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 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
Choroidermia - hypopituitarism Congenital rubella syndrome Chromosomal anomaly
Chromosome 18q Deletion Syndrome Chronic autoimmune hepatitis Chronic inflammatory demyelinating polyneuropathy
Chronic muscular fatigue and/or chronic muscle pain 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 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 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 great vessels anomaly Congenital glaucoma Congenital heart malformation
Congenital hydrocephalus Congenital hypothyroidism Congenital isolated hyperinsulinism
Congenital laryngomalacia Congenital liver hemangioma Congenital mitral valve insufficiency and/or stenosis
Congenital myasthenic syndrome Congenital narrowing of cervical spinal canal 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 Cushing syndrome
Cushing syndrome due to ectopic ACTH secretion Cutaneous leukocytoclastic angiitis Cutis marmorata telangiectatica congenita
Cutaneous mastocytoma Cutaneous mastocytosis Cyclic neutropenia
Cystic fibrosis DEAF1 - Deformed epidermal autoregulatory factor – 1 Dementia pugilistica
Dementia with Lewy body Dentinogenesis imperfecta Denys-Drash syndrome
Dermatomyositis Desminopathy 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 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 Dural sinus malformation
Dysequilibrium syndrome Dyskeratosis congenita Dyspraxia
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>/td>
Emanuel syndrome Encephalopathy due to GLUT1 deficiency Eosinophilic esophagitis
Eosinophilic fasciitis Eosinophilic granulomatosis with polyangiitis Eosinophilic gastroenteritis
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 Exposure to Medications Ataxia
Excessive fragmentary hypnic myoclonus Erythromelalgia Fabry disease
Facioscapulohumeral dystrophy Familial adenomatous polyposis Familial amyloid polyneuropathy
Familial atypical multiple mole melanoma syndrome Familial bicuspid aortic valve 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 syndrome Friedreich ataxia Frontotemporal dementia with motor neuron disease
Functional Neurological Disorder (FND) 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 Glucose transport disorder
Glycogen storage disease due to acid maltase deficiency Glycogen storage disease due to muscle phosphorylase kinase deficiency Goldenhar syndrome
Granuloma Annulare Granulomatosis with polyangiitis Growth Hormone Deficiency
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 sensory neuropathy deafness dementia syndrome Hereditary spastic paraplegia Hereditary spherocytosis
Hereditary vascular retinopathy 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 Ichthyosis Ichthyosis - hepatosplenomegaly - cerebellar degeneration
Idiopathic acute transverse myelitis Idiopathic aplastic anemia Idiopathic avascular necrosis
Idiopathic bilateral vestibulopathy 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 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 Internal carotid agenesis
Interstitial cystitis Inverse Klippel-Trenaunay syndrome IRIDA syndrome
Isaac syndrome Isolated aniridia Isolated brachycephaly
Isolated Dandy-Walker malformation without hydrocephalus Isolated encephalocele Isolated Klippel-Feil syndrome
Isolated Pierre Robin syndrome Isolated plagiocephaly Isolated spina bifida
Jacobsen syndrome Joubert syndrome Juvenile Huntington disease
Juvenile idiopathic arthritis Juvenile myasthenia gravis Juvenile myoclonic epilepsy
Juvenile neuronal ceroid lipofuscinosis Juvenile polyposis syndrome Juvenile rheumatoid factor-positive polyarthritis
Kabuki syndrome Kallmann syndrome Kawasaki disease
KAT6A Syndrome KBG syndrome Keutel syndrome
Kennedy disease Kienbock disease Kleefstra syndrome
Kleine-Levin syndrome Langerhans cell histiocytosis Late infantile neuronal ceroid lipofuscinosis
Late-onset isolated ACTH deficiency Late-onset primary lymphedema Laing early-onset distal myopathy
Leber congenital amaurosis Ledderhose disease Legionellosis
Leigh syndrome Leiomyosarcoma of small intestine Leiomyosarcoma of the cervix uteri
Leiomyosarcoma of the corpus uteri 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 Listeriosis Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
long qt type 6 Lumbosacral spina bifida cystica Lyme disease
Lymphomatoid papulosis Machado-Joseph disease type 1 Machado-Joseph disease type 2
Machado-Joseph disease type 3 Madras motor neuron disease Manganese poisoning
Marfan syndrome Marinesco Sjogren Syndrome(Marinesco-Sjogren syndrome) Marshall Syndrome
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
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 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 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 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 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 acquired skin disease
Other metabolic disease with epilepsy Other syndrome with a central nervous system malformation as major feature Panhypopituitarism
Pancreatic endocrine tumor Paraneoplastic neurologic syndrome Paris-Trousseau thrombocytopenia
Pars Planitis Uveitis Partial acquired lipodystrophy Partial androgen insensitivity syndrome
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 Patent foramen ovale
Partial duplication of the short arm of chromosome 4 Pemphigus vulgaris Perinatal lethal hypophosphatasia
Perineural cyst Periodic fever syndrome Peroxisome biogenesis disorder-Zellweger syndrome spectrum
Perrault syndrome Peters anomaly Peters anomaly - cataract
PHACE syndrome Phenylketonuria 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
Polycythemia vera Polymyalgia rheumatica Polymyositis
Polyneuropathy - hearing loss - ataxia - retinitis pigmentosa - cataract Polyostotic fibrous dysplasia Pontine tegmental cap dysplasia
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 dystonia, DYT6 type Primary hyperoxaluria Primary immunodeficiency
Primary lateral sclerosis Primary lymphedema Primary myoclonus
Primary orthostatic hypotension 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 Pulmonary arterial hypertension
Pulmonary interstitial glycogenosis Pulmonary valve agenesis - Fallot`s tetralogy - absence of ductus arteriosus Pure autonomic failure
Pyoderma gangrenosum Pyoderma gangrenosum - acne - suppurative hidradenitis 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
Radius absent - anogenital anomalies Rare acquired eye disease Rare adult hypothyroidism
Rare diabetes mellitus type 1 Rare disease with autism Rare disorder with dystonia and other neurologic or systemic manifestation
Rare genetic hypothalamic or pituitary disease Rare genetic intellectual disability with developmental anomaly 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 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 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
Sjögren 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 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 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 mastocytosis Systemic sclerosis 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 Trigeminal autonomic cephalalgia Trigeminal neuralgia
TRIM63 Trisomy X 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 Ulcerative colitis
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 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
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 Xeroderma pigmentosum-Cockayne syndrome complex X-linked adrenoleukodystrophy
X-linked hypophosphatemia X-linked lymphoproliferative disease X-linked progressive cerebellar ataxia
Zellweger syndrome Zollinger-Ellison syndrome ZYMND11 alteration

Enrolled Participant Countries

Argentina Australia Austria
Belgium Brazil Bulgaria
Canada Chile China
Croatia Colombia Cyprus
Denmark Egypt Estonia
Ethiopia Finland France
Georgia Germany Greece
Honduras Hong Kong Iceland
India Iran Ireland
Israel Italy Japan
Jordan Lebanon Malaysia
Mexico Morocco Nepal
Netherlands New Zealand Norway
Pakistan Peru Philippines
Poland Portugal Romania
Russia Saudi Arabia Serbia
Seychelles Singapore Slovenia
South Africa Spain Sri Lanka
Sweden Switzerland Thailand
Turkey Uganda United Arab Emirates
United Kingdom United States of America (USA) Venezuela