Represented Diseases

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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
  • 15q11q13 microduplication syndrome
  • 15q11.2 microdeletion syndrome
  • 15q13.3 microdeletion syndrome
  • 16p11.2p12.2 microdeletion syndrome
  • 16p13.11 microdeletion syndrome
  • 16p13.11 microduplication syndrome
  • 16p.13.3 microduplication syndrome
  • 17q11 microdeletion syndrome
  • 17p11.2 microduplication syndrome
  • 17q11.2 microduplication syndrome
  • 17q12 microdeletion syndrome
  • 17q12 microduplication syndrome
  • 19p13.12 microdeletion syndrome
  • 19p13.13 microdeletion syndrome
  • 20p12.3 microdeletion syndrome
  • 1p36 deletion syndrome
  • 1q21.1 microdeletion syndrome
  • 1q21.1 microduplication syndrome
  • 1q21.3 microdeletion
  • 1q44 microdeletion syndrome
  • 2p16.3 deletion
  • 22q11.2 deletion syndrome
  • 22q11.2 microduplication syndrome
  • 2q13 chromosome deletion
  • 2q23.1 microdeletion syndrome
  • 2q24 microdeletion syndrome\
  • 2q33.1 microdeletion syndrome
  • 2q37 microdeletion syndrome
  • 3-methylglutaconic aciduria
  • 3-methylglutaconic aciduria type 3
  • 3MC syndrome
  • 3q26 microduplication syndrome
  • 4-hydroxybutyric aciduria
  • 45,X/46,XY mixed gonadal dysgenesis
  • 46, XY disorder of sex development - adrenal insufficiency due to CYP11A1 deficiency
  • 46, XY gonadal dysgenesis-motor and sensory neuropathy syndrome
  • 4H leukodystrophy
  • 4p Deletion Syndrome
  • 4p Deletion Syndrome, Non-Wolf-Hirschhorn Syndrome
  • 4q21 micro deletion syndrome
  • 5q13.3q22.1 duplication
  • 5q14.3 microdeletion syndrome Non-Wolf-Hirschhorn Syndrome
  • 5q35 microduplication syndrome
  • 6p23 Microdeletion
  • 8p23.1 microduplication syndrome

A

  •  AApoAII amyloidosis
  • ABCD syndrome
  • Absent thumb - short stature – immunodeficiency
  • Aceruloplasminemia
  • Achalasia
  • Achalasia-alacrimia syndrome
  • Achromatopsia
  • Acquired angioedema Acquired ataxia
  • Acquired aneurysmal subarachnoid hemorrhage
  • Acquired central diabetes insipidus
  • Acquired chronic primary adrenal insufficiency
  • Acquired idiopathic sideroblastic anemia
  • Acquired kidney disease-associated renal cell carcinoma
  • Acquired monoclonal Ig light chain-associated Fanconi syndrome
  • Acquired motor neuron disease
  • Acquired myasthenia gravis  
  • Acquired neutropenia
  • Acquired peripheral neuropathy
  • Acquired peripheral movement disorder
  • Acquired premature ovarian failure
  • Acquired secondary polycythemia
  • Acquired thrombotic thrombocytopenic purpura
  • Acquired von Willebrand syndrome
  • Acral peeling skin syndrome
  • Acrodysplasia scoliosis
  • Acrofacial dysostosis, Kennedy-Teebi type
  • Acromegaly
  • Acromesomelic dysplasia
  • Acroosteolysis dominant type
  • Actinic prurigo
  • Actinomycosis
  • Activated PIK3-delta syndromea
  • Action myoclonus - renal failure syndrome
  • Acute adrenal insufficiency
  • Acute biphenotypic leukemia
  • Acute disseminated encephalomyelitis
  • Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome
  • Acute inflammatory demyelinating polyradiculoneuropathy
  • Acute intermittent porphyria
  • Acute motor-sensory axonal neuropathy
  • Acute motor axonal neuropathy
  • Acute multifocal placoid pigment epitheliopathy
  • Acute myeloid leukemia
  • Acute pandysautonomia
  • Acute posterior multifocal placoid pigment epitheliopathy
  • Acute promyelocytic leukemia
  • Acute sensorineural hearing loss by acute acoustic trauma or sudden deafness or surgery induced acoustic trauma 
  • Acute transverse myelitis 
  • Acquired pituitary hormone deficiency
  • Addison disease
  • Adenocarcinoma of the esophagus
  • Adenocarcinoma of the lung
  • Adie Syndrome
  • Adiposis dolorosa
  • ADNP-related multiple congenital anomalies-intellectual disability-autism spectrum disorder
  • ADNP syndrome
  • Adolescent-onset epilepsy syndrome
  • Adrenal incidentaloma
  • Adrenomyeloneuropathy
  • Adult acute respiratory distress syndrome
  • Adult hepatocellular carcinoma
  • Adult idiopathic neutropenia
  • Adult-onset distal myopathy due to VCP mutation
  • Adult-onset dystonia-parkinsonism
  • Adult polyglucosan body disease
  • Adult hypophosphatasia
  • Adult-onset autosomal recessive cerebellar ataxia
  • Adult-onset cervical dystonia, DYT23 type 
  • Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
  • Adult-onset myasthenia gravis
  • Adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia
  • Adult-onset proximal spinal muscular atrophy, autosomal dominant
  • Adult-onset Still disease
  • Agammaglobulinemia
  • Agenesis of the corpus callosum - intellectual disability - coloboma – micrognathia
  • AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome
  • Aicardi-Goutieres syndrome
  • Aicardi syndrome
  • AIDS wasting syndrome
  • AL amyloidosis
  • Alcohol related ataxia
  • Alexander disease type 1
  • ALG2-CDG
  • ALG13-CDG
  • Albright hereditary osteodystrophy
  • Alagille syndrome
  • Alagille syndrome due to a JAG1 point mutation
  • Alagille syndrome due to a NOTCH2 point mutation
  • Alexander disease type 1
  • ALK-positive anaplastic large cell lymphoma
  • Allan-Herndon-Dudley syndrome
  • Alpha-1-antitrypsin deficiency
  • Alopecia
  • Alopecia - epilepsy - pyorrhea - intellectual disability
  • Alopecia universalis
  • Alpha-mannosidosis
  • Alpha-thalassemia-myelodysplastic syndrome
  • Alpha-thalassemia - X-linked intellectual disability syndrome
  • Alport syndrome
  • Alstrom syndrome
  • Amelia of upper limb
  • Amelo-cerebro-hypohidrotic syndrome
  • Amelogenesis imperfecta
  • Amelogenesis imperfecta - nephrocalcinosis
  • Amilial papillary or follicular thyroid carcinoma
  • Amyloidosis
  • Amyotrophic lateral sclerosis
  • Amyotrophic lateral sclerosis type 4  Aneurysm - osteoarthritis syndromeAniridia
  • Anal fistula
  • Anaplastic thyroid carcinoma
  • Angelman syndrome
  • Angiosarcoma
  • Aniridia - cerebellar ataxia - intellectual disability
  • Ankylostomiasis
  • Anodontia
  • Anomaly of chromosome 7
  • Anomaly of chromosome 16
  • Anophthalmia - microphthalmia
  • Anophthalmia/microphthalmia - esophageal atresia
  • Anterior uveitis
  • Anterior maxillary protrusion-strabismus-intellectual disability syndrome
  • Anti-neutrophil cytoplasmic antibody-associated vasculitis
  • Anti-glomerular basement membrane disease
  • Antiphospholipid syndrome
  • Aorta coarctation
  • Aortic arch defects
  • Aortic dilatation - joint hypermobility - arterial tortuosity
  • APC-related attenuated familial adenomatous polyposis
  • Aphonia - deafness - retinal dystrophy - bifid halluces - intellectual disability
  • Aplasia cutis congenita
  • Aplasia of lacrimal and salivary glands
  • Aquagenic palmoplantar keratoderma
  • Arachnoid cyst Arachnoiditis
  • Arnold-Chiari malformation type I
  • Arterial duct anomaly Arnold-Chiari malformation type II
  • Arterial thoracic outlet syndrome
  • Arteriovenous malformation
  • Arthrogryposis multiplex congenita
  • Arthrogryposis syndrome
  • Atrioventricular canal defect
  • Atrial septal defect, coronary sinus type
  • Atrial septal defect, ostium secundum type
  • ASH-L mutation
  • ASH1L mutation
  • Ataxia - Genetic diagnosis – Unknown
  • Ataxia - oculomotor apraxia type 1
  • Ataxia - Oculomotor Apraxia Type 3
  • Ataxia - Oculomotor Apraxia Type 4
  • Ataxia - Other
  • Ataxia - pancytopenia Ataxia with vitamin E deficiency
  • Ataxia-telangiectasia
  • Ataxia-telangiectasia-like disorder
  • Ataxia-telangiectasia variant
  • Ataxia with dementia
  • Arthrochalasia Ehlers-Danlos syndrome
  • Atrial tachyarrhythmia with short PR interval
  • Atrial septal aneurysm
  • Atrioventricular canal defect (AVSD)
  • Atypical autism
  • Atypical coarctation of aorta
  • Atypical hemolytic-uremic syndrome
  • Atypical hemolytic uremic syndrome with anti-factor H antibodies
  • Atypical hemolytic uremic syndrome with complement gene abnormality
  • Atypical hemolytic-uremic syndrome with thrombomodulin anomaly
  • Atypical Meigs syndrome
  • Atypical progressive supranuclear palsy
  • Atypical Rett syndrome
  • Arthrogryposis - severe scoliosis
  • Autoimmune Inner Ear Disease
  • ATTRV122l amyloidosis
  • Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
  • Autism (Non rare in Europe)
  • Autism spectrum disorder due to AUTS2 deficiency
  • Autism spectrum disorder due to a POGZ deficiency
  • Autoimmune bullous skin disease
  • Autoimmune gastrointestinal dysmotility
  • Autoimmune hemolytic anemia
  • Autoimmune hemolytic anemia, cold type
  • Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome
  • Autoimmune hepatitis
  • Autoimmune hepatitis type 1
  • Autoimmune hypoparathyroidism
  • Autoimmune interstitial lung disease-arthritis syndrome
  • Autoimmune necrotizing myopathy
  • Autoimmune neurological channelopathy
  • Autoimmune neurological channelopathy due to a acetylcholine receptor subunits defect
  • Autoimmune neurological channelopathy due to a p/q-type voltage gated calcium channel defect
  • Autoimmune/inflammatory optic neuropathy
  • Autoimmune polyendocrinopathy type 1
  • Autoimmune polyendocrinopathy type 2
  • Autoimmune thrombocytopenia
  • Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
  • Autoinflammatory syndrome with immune deficiency
  • 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 Charcot-Marie-Tooth disease type 2
  • Autosomal dominant Charcot-Marie-Tooth disease type 2F
  • Autosomal dominant childhood-onset proximal spinal muscular atrophy
  • Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
  • Autosomal dominant complex spastic paraplegia
  • Autosomal dominant distal myopathy
  • Autosomal dominant Emery-Dreifuss muscular dystrophy
  • Autosomal dominant hereditary demyelinating motor and sensory neuropathy
  • Autosomal dominant hereditary sensory and autonomic neuropathy
  • Autosomal dominant hypophosphatemic rickets
  • Autosomal dominant hyper-IgE syndrome
  • Autosomal dominant ichthyosis vulgaris (Non rare in Europe)
  • 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 otospondylomegaepiphyseal dysplasia
  • Autosomal dominant palmoplantar keratoderma and congenital alopecia
  • Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
  • Autosomal dominant pure spastic paraplegia
  • Autosomal dominant spastic ataxia
  • Autosomal dominant spastic paraplegia type 4
  • Autosomal dominant spastic paraplegia type 9
  • Autosomal dominant spastic paraplegia type 12
  • 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 systemic lupus erythematosus
  • 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 - blindness - deafness
  • Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to KIAA0226 deficiency
  • Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency
  • Autosomal recessive cerebellar ataxia - saccadic intrusion
  • Autosomal recessive cerebellar ataxia type 3 (ARCA3)
  • Autosomal recessive cerebellar ataxia with late-onset spasticity
  • Autosomal recessive cerebral atrophy
  • Autosomal recessive cerebelloparenchymal disorder type 3
  • Autosomal recessive complex spastic paraplegia
  • Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency
  • Autosomal recessive congenital ichthyosis
  • Autosomal recessive cutis laxa type 2, classic type
  • Autosomal recessive degenerative and progressive cerebellar ataxia
  • Autosomal recessive extra-oral halitosis
  • Autosomal recessive hypohidrotic ectodermal dysplasia
  • Autosomal recessive limb-girdle muscular dystrophy type 2A
  • Autosomal recessive multiple pterygium syndrome
  • Autosomal recessive myogenic arthrogryposis multiplex congenita
  • Autosomal recessive proximal renal tubular acidosis
  • Autosomal recessive secondary polycythemia not associated with VHL gene
  • Autosomal recessive spastic ataxia
  • Autosomal recessive spastic ataxia of Charlevoix-Saguenay
  • Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome
  • Autosomal recessive spastic paraplegia type 7
  • Autosomal recessive spastic paraplegia type 11
  • Autosomal recessive spastic paraplegia type 39
  • Autosomal recessive spastic ataxia - optic atrophy - dysarthria
  • Autosomal recessive systemic lupus erythematosus
  • Autosomal spastic paraplegia type 30
  • Avascular necrosis
  • Axenfeld-Rieger syndrome

B

  • B-cell non-Hodgkin lymphoma
  • Bannayan-Riley-Ruvalcaba syndrome
  • Baraitser-Winter syndrome
  • Bardet-Biedl syndrome
  • Baroreflex Failure
  • Barrett esophagus
  • Bazex-Dupre-Christol syndrome
  • Beckwith-Wiedemann syndrome
  • Behavioral variant of frontotemporal dementia
  • Behcet disease
  • Benign adult familial myoclonic epilepsy
  • Benign epithelial tumor of the salivary glands
  • Benign essential blepharospasm
  • Benign familial infantile epilepsy
  • Benign focal seizures of adolescence
  • Benign metastasizing leiomyoma (BML)
  • Benign paroxysmal tonic upgaze of childhood with ataxia
  • Benign paroxysmal torticollis of infancy
  • Benign partial epilepsy of infancy with complex partial seizures
  • Benign recurrent intrahepatic cholestasis
  • Benign recurrent intrahepatic cholestasis type 1
  • Benign recurrent intrahepatic cholestasis type 2
  • Berger disease: NONE RARE IN EUROPE
  • Bernard-Soulier syndrome     
  • Best vitelliform macular dystrophy
  • Beta-mannosidosis
  • Beta-thalassemia
  • Beta-thalassemia major
  • Bicornuate uterus
  • Bilateral acute depigmentation of the iris
  • Bilateral frontal polymicrogyria
  • Bilateral perisylvian polymicrogyria
  • Bilateral renal agenesis
  • Bilateral striopallidodentate calcinosis
  • Bile acid synthesis defect with cholestasis and malabsorption
  • Biliary atresia
  • Biotinidase deficiency
  • Birdshot chorioretinopathy
  • Bohring-Opitz syndrome
  • Borjeson-Forssman-Lehmann syndrome 
  • Brachydactyly
  • Brachydactyly - nystagmus - cerebellar ataxia
  • Brain-lung-thyroid syndrome
  • Brain tumor ataxia
  • Breast implant associated anaplastic large cell lymphoma
  • Bronchial endocrine tumor
  • Bronchial neuroendocrine tumor
  • Bronchopulmonary dysplasia
  • Brooke-Spiegler syndrome
  • Bruck syndrome
  • Brugada syndrome
  • Bullous pemphigoid
  • Bullous systemic lupus erythematosus
  • Burning mouth syndrome
  • Butyrylcholinesterase deficiency
     

C

  • C12ORF65-related combined oxidative phosphorylation defect
  • C3 glomerulonephritis
  • CACH syndrome
  • CACNA1A gene mutation
  • CADASIL
  • Camptocormia
  • Camptodactyly of fingers
  • Camurati-Engelmann disease
  • CANVAS Syndrome
  • Capillary malformation
  • Capillary malformation - arteriovenous malformation
  • Carcinoma of the gallbladder
  • Cardiac-valvular Ehlers-Danlos syndrome
  • Cardiac anomalies - heterotaxy
  • Cardiofaciocutaneous syndrome
  • Cardiogenic shock
  • Cardiomyopathy-hypotonia-lactic acidosis syndrome
  • Carnitine palmitoyl transferase 1A deficiency
  • Carnevale syndrome
  • Carotid-Cavernous Fistula
  • Cat-scratch disease
  • Cataract-glaucoma
  • Catecholaminergic polymorphic ventricular tachycardia
  • Catel-Manzke syndrome
  • Cauda Equina Syndrome (CES)
  • Cauda equine syndrome
  • Caudal regression syndrome
  • CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome
  • CDKL5-related epileptic encephalopathy
  • Celiac artery compression syndrome
  • Celiac disease, epilepsy and cerebral calcification syndrome
  • Celiac disease (NON RARE IN EUROPE)
  • Central areolar choroidal dystrophy
  • Central core disease
  • Central Pain Syndrome
  • Central precocious puberty
  • Central polydactyly of fingers
  • Cerebral arteriovenous malformations
  • Cerebral cavernous malformations
  • 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
  • Cerebellar malformation
  • Cerebellum agenesis - hydrocephaly
  • Cerebral cavernous malformations
  • Cerebral malformation
  • Cerebral visual impairment
  • Cervical spina bifida cystica
  • Channelopathy due to a voltage-gated sodium channel defect
  • Charcot-Marie-Tooth disease
  • Charcot-Marie-Tooth disease - deafness - intellectual disability
  • Charcot-Marie-Tooth disease type 2P
  • Charcot-Marie-Tooth disease type 2T
  • CHARGE syndrome
  • Childhood apraxia of speech
  • Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
  • Childhood-onset epilepsy syndrome
  • Childhood-onset hypophosphatasia
  • Chilblain lupus
  • Choanal atresia, bilateral 
  • Choanal atresia, unilateral
  • Cholangiocarcinoma
  • Chondrodysplasia punctata
  • Choroidermia – hypopituitarism
  • Chromophobe renal cell carcinoma
  • Chromosomal anomaly
  • Chromosome 9q Duplications
  • Chromosome 15q duplication
  • Chromosome 18q Deletion Syndrome
  • Chronic autoimmune hepatitis
  • Chronic Epstein-Barr virus infection syndrome
  • Chronic fatigue syndrome (Non rare in Europe)
  • Chronic inflammatory demyelinating polyneuropathy
  • Chronic intestinal failure
  • Chronic intestinal pseudoobstruction
  • Chronic muscular fatigue and/or chronic muscle pain
  • Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis
  • Chronic primary adrenal insufficiency
  • Chronic recurrent multifocal osteomyelitis
  • Chronic relapsing inflammatory optic neuropathy
  • Chung-Jansen Syndrome
  • CIC Gene Mutation
  • Clark-Baraitser syndrome
  • Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
  • Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form
  • Classic homocystinuria
  • Classic lissencephaly
  • Classic maple syrup urine disease
  • Classic medulloblastoma
  • Classical Ehlers-Danlos syndrome
  • Classical homocystinuria
  • Classic phenylke
  • Classic stiff person syndrome
  • Cleft lip/palate - intestinal malrotation - cardiopathy
  • Cleft lip with or without cleft palate
  • Cleft mitral valve
  • Cleft palate
  • Clippers
  • CLN1 disease
  • CLN2 disease
  • CLN3 disease
  • CLN6 disease
  • CLN7 disease
  • CLN8 disease
  • Clonic hemifacial spasm
  • Cluster headache (NON RARE IN EUROPE)
  • CLTC-Related Disorder
  • Coats disease
  • Coccidioidomycosis
  • 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 dystonia
  • Combined hyperactive dysfunction syndrome of the cranial nerves
  • Combined oxidative phosphorylation deficiency-23 (COXPD23)
  • Combined pituitary hormone deficiencies, genetic forms
  • Common variable immunodeficiency
  • Complete androgen insensitivity syndrome
  • Complete atrioventricular canal - Fallot tetralogy
  • Complete atrioventricular septal defect-tetralo
  • 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 absence of upper arm and forearm with hand present
  • Congenital adrenal hyperplasia
  • Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency
  • Congenital amyoplasia 
  • Congenital aortic valve stenosis
  • Congenital and infantile nephrotic syndrome
  • Congenital bile acid synthesis defect
  • Congenital blindness due to retinal non-attachment
  • Congenital cataracts-facial dysmorphism-neuropathy syndrome
  • Congenital cataract-hearing loss-severe developmental delay syndrome
  • Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome
  • Congenital cervical spinal stenosis
  • Congenital chloride diarrhea
  • Congenital communicating hydrocephalus
  • Congenital contractural arachnodactyly
  • Congenital deformities of fingers
  • Congenital diaphragmatic hernia
  • Congenital disorder of glycosylation
  • Congenital dyserythropoietic anemia
  • Congenital dyserythropoietic anemia type IV
  • Congenital elbow dislocation
  • Congenital Epstein-Barr virus infection
  • Congenital epulis
  • Congenital factor II deficiency
  • Congenital factor VII deficiency
  • Congenital factor XI deficiency
  • Congenital genu recurvatum
  • Congenital glaucoma
  • Congenital great vessels anomaly
  • Congenital heart block
  • Congenital heart malformation
  • Congenital hydrocephalus
  • Congenital hypogonadotropic hypogonadism
  • Congenital hypothalamic hamartoma syndrome
  • Congenital hypothyroidism
  • Congenital hydronephrosis
  • Congenital intrinsic factor deficiency
  • Congenital isolated hyperinsulinism
  • Congenital laryngomalacia
  • Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
  • Congenital liver hemangioma
  • Congenital mitral valve insufficiency and/or stenosis
  • Congenital muscular dystrophy due to dystroglycanopathy
  • Congenital myasthenic syndrome
  • Congenital myopathy
  • Congenital narrowing of cervical spinal canal
  • Congenital partial pulmonary venous return anomaly
  • Congenital patella dislocation, unilateral
  • Congenital primary lymphedema
  • Congenital pseudoarthrosis of the fibula
  • Congenital ptosis
  • Congenital pulmonary valve stenosis
  • Congenital pulmonary veins atresia or stenosis
  • Congenital stationary night blindness
  • Congenital stromal corneal dystrophy
  • Congenital surcease-isomaltase deficiency
  • Congenital sucrase-isomaltase deficiency with starch and lactose intolerance
  • Congenital tracheal stenosis
  • Congenital tracheomalacia
  • Congenital vitamin K-dependent coagulation factors deficiency
  • Congenitally corrected transposition of the great arteries
  • Connective tissue disorder due to lysyl hydroxylase-3 deficiency
  • Constitutional anemia due to iron metabolism disorder
  • Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder
  • Continuous spikes and waves during sleep
  • Corneal-cerebellar syndrome
  • Cornelia de Lange syndrome
  • Coronary artery disease - hyperlipidemia - hypertension - diabetes – osteoporosis
  • Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
  • Corticobasal degeneration
  • Cowden syndrome
  • Cramp Fasciculation syndrome
  • Cranial neuralgia
  • Craniopharyngioman
  • Craniosynostosis
  • Craniosynostosis - Dandy-Walker malformation - hydrocephalus
  • Cronkhite-Canada syndrome
  • CRB1
  • CREST syndrome
  • Crohn disease (Non rare in Europe)
  • Crouzon disease
  • Cryoglobulinemic vasculitis
  • Cryopyrin-associated periodic syndrome
  • CSID
  • CTCF-related neurodevelopmental disorder
  • CTNNB1 Syndrome
  • Cushing syndrome
  • Cushing syndrome due to ectopic ACTH secretion
  • Cushing syndrome due to macronodular adrenal hyperplasia
  • Cutaneous collagenous vasculopathy
  • Cutaneous leukocytoclastic angiitis
  • Cutaneous mastocytoma
  • Cutaneous mastocytosis
  • Cutaneous neuroendocrine carcinoma
  • Cutaneous small vessel vasculitis
  • Cutis marmorata telangiectatica congenita
  • Cyclic neutropenia
  • Cyclic vomiting syndrome (CVS)
  • Cystic fibrosis
  • Cystinosis
  • Cystoid macular dystrophy
  • Cytomegalovirus disease in patients with impaired cell mediated immunity deemed at risk

D

  • DEAF1 - Deformed epidermal autoregulatory factor – 1
  • Delayed speech - facial asymmetry - strabismus - ear lobe creases
  • Dementia pugilistica
  • Dementia with Lewy body
  • Dengue fever
  • Dent disease
  • Dent disease type 1
  • Dentatorubral pallidoluysian atrophy
  • Dentinogenesis imperfecta
  • Denys-Drash syndrome
  • Dermatitis herpetiformis
  • Dermatofibrosarcoma protuberans
  • Dermatomyositis
  • Desminopathy
  • Desmoid tumor
  • Desquamative interstitial pneumonia
  • Developmental and speech delay due to SOX5 deficiency
  • Developmental anomaly of metabolic origin
  • Developmental delay with autism spectrum disorder and gait instability
  • Dextrocardia
  • DHDDS - related disorder
  • Diabetes mellitus type 1
  • Diastematormyelia
  • Diazoxide-sensitive diffuse hyperinsulinism
  • Diethylstilbestrol syndrome
  • Differentiated thyroid carcinoma
  • Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome
  • Diffuse cutaneous systemic sclerosis
  • Diffuse Idiopathic Skeletal Hyperostosis (DISH)
  • Diffuse large B-cell lymphoma
  • Dilated cardiomyopathy
  • Dimethylglycine dehydrogenase deficiency
  • Discoid lupus erythematosus
  • Discrete fibromuscular subaortic stenosis
  • Disease predisposing to age-related macular degeneration
  • Disorder of amino acid and other organic acid metabolism
  • Disorder of bilirubin metabolism and excretion
  • Disorder of lysosomal amino acid transport
  • Disorder of other vitamins and cofactors metabolism and transport
  • Disorder of sex development
  • Disorder of thiamine metabolism and transport
  • Disorder of urea cycle metabolism and ammonia detoxification
  • Disseminated peritoneal leiomyomatosis
  • Disseminated superficial actinic porokeratosis
  • Distal monosomy 13q
  • Distal myopathy, Nonaka type
  • Distal renal tubular acidosis
  • DLG4-associated synaptopathy
  • DLG4-related disorder
  • DGL4-related synaptopathy
  • Dominant hypophosphatemia with nephrolithiasis or osteoporosis
  • Double outlet right ventricle
  • Double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy
  • Down syndrome
  • Dravet syndrome
  • Drug-induced lupus erythematosus
  • Drug rash with eosinophilia and systemic symptoms
  • Duane anomaly - myopathy - scoliosis
  • Duane retraction syndrome
  • Duchenne and Becker muscular dystrophy
  • Duchenne muscular dystrophy
  • Duodenal atresia
  • Duplication/inversion 15q11
  • Dural sinus malformation
  • DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy
  • Dysequilibrium syndrome
  • Dyskeratosis congenita
  • Dyspraxia
  • Dystrophic epidermolysis bullosa

E

  • Eagles Syndrome
  • Early infantile epileptic encephalopathy
  • Early infantile epileptic encephalopathy 5 (EIEE5)
  • Early-onset autosomal dominant Alzheimer disease
  • Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
  • Early-onset cerebellar ataxia with retained tendon reflexes
  • Early-onset generalized limb-onset dystonia
  • Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome
  • Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
  • Early-onset schizophrenia
  • Early-onset sarcoidosis
  • Early-onset spastic ataxia-neuropathy syndrome
  • EAST syndrome
  • Ectodermal dysplasia syndrome
  • Ectrodactyly - ectodermal dysplasia without clefting
  • Ehlers-Danlos syndrome
  • Ehlers-Danlos syndrome due to tenascin-X deficiency
  • Ehlers-Danlos syndrome, kyphoscoliotic type
  • Ehlers-Danlos syndrome, classic type
  • Ehlers-Danlos syndrome, hypermobility type
  • Ehlers-Danlos syndrome, kyphoscoliotic and deafness type
  • Ehlers-Danlos syndrome, type 1 
  • Ehlers-Danlos syndrome, type 11
  • Ehlers-Danlos syndrome, vascular-like type
  • Ehrlichiosis
  • Eisenmenger syndrome
  • Electromagnetic Frequency Sensitivity
  • Emanuel syndrome
  • EMARDD
  • Encephalopathy due to GLUT1 deficiency
  • Enchondromatosis
  • Encephalitis
  • Encircling double aortic arch
  • Endocrine tumor
  • Enthesitis-related juvenile idiopathic arthritis 
  • Eosinophilic esophagitis
  • Eosinophilic fasciitis
  • Eosinophilic granulomatosis with polyangiitis
  • Eosinophilic gastroenteritis
  • Ependymoma
  • Epidermal nevus syndrome
  • Epidermolysis bullosa simplex
  • Epidermolysis bullosa simplex with anodontia/hypodontia
  • Epilepsy and/or ataxia with myoclonus as a major feature
  • Epilepsy 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
  • Epithelial basement membrane dystrophy
  • Epithelioid hemangioendothelioma
  • Epithelioid Leiomyosarcoma
  • Epstein syndrome
  • Erdheim-Chester disease
  • Erythema nodosum
  • Erythromelalgia
  • Esophageal atresia
  • Essential hypertension (NON RARE IN EUROPE)
  • Essential thrombocythemia
  • Exfoliation syndrome
  • Exposure to Medications Ataxia
  • Excessive fragmentary hypnic myoclonus
  • Extrapelvic endometriosis
  • Extrasystoles - short stature - hyperpigmentation - microcephaly
     

F

  • Fabry disease
  • Facioscapulohumeral dystrophy
  • Fahr's Syndrome
  • Familial adenomatous polyposis
  • Familial amyloid polyneuropathy
  • Familial aortic dissection
  • Familial articular hypermobility syndrome
  • Familial atypical multiple mole melanoma syndrome
  • Familial bicuspid aortic valve
  • Familial calcium pyrophosphate deposition
  • Familial cerebral cavernous malformation
  • Familial clubfoot due
  • Familial cold urticaria
  • Familial developmental dysphasia
  • Familial Dupuytren contracture
  • Familial dysautonomia
  • Familial hemophagocytic lymphohistiocytosis
  • Familial hyperaldosteronism type II
  • Familial hyperprolactinemia
  • Familial hyperthyroidism due to mutations in TSH receptor
  • Familial hypobetalipoproteinemia
  • Familial hypocalciuric hypercalcemia
  • Familial isolated congenital asplenia
  • Familial isolated hyperparathyroidism
  • Familial long QT syndrome
  • Familial Mediterranean fever
  • Familial medullary thyroid carcinoma
  • Familial mitral valve prolapse
  • Familial or sporadic hemiplegic migraine
  • Familial patent arterial duct
  • Familial paroxysmal ataxia
  • Familial primary hyperparathyroidism
  • Familial prostate cancer
  • Familial restrictive cardiomyopathy
  • Familial Scheuermann disease
  • Familial sick sinus syndrome
  • Familial spontaneous pneumothorax
  • Familial symmetric lipomatosis
  • Familial syringomyelia
  • Familial vesicoureteral reflux
  • Fanconi anemia
  • Fanconi syndrome - ichthyosis - dysmorphism
  • Fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex 1 deficiency
  • FBX011 alteration
  • Febrile infection-related epilepsy syndrome
  • Feingold syndrome
  • Female restricted epilepsy with intellectual disability
  • Femur-fibula-ulna complex
  • Fetal cytomegalovirus syndrome
  • Fibromuscular dysplasia of arteries
  • Fibromyalgia
  • Fibrous dysplasia of bone
  • Fitz-Hugh-Curtis Syndrome
  • Focal epilepsy - intellectual disability - cerebro-cere
  • Focal, segmental or multifocal dystonia
  • Follicular lymphoma
  • Forestier's Diseases
  • FOXP1-related intellectual disability syndrome
  • FOXP1 Syndrome
  • Fragile X-associated tremor/ataxia syndrome
  • Fragile X syndrome
  • Free sialic acid storage disease
  • Friedreich ataxia
  • Frontal fibrosing alopecia
  • Frontotemporal dementia with motor neuron disease
  • Frontotemporal neurodegeneration with movement disorder
  • Fuchs endothelial corneal dystrophy
  • Functional Neurological Disorder (FND)
  • Functioning pituitary adenoma

G

  • GAD ataxia
  • Ganglioglioma
  • Ganglioneuroblastoma
  • Gastrointestinal stromal tumor
  • Gastroparesis
  • Gastroschisis
  • Gaucher disease
  • Gaucher disease type 2
  • Generalized pustular psoriasis
  • Genetic central nervous system malformation
  • Genetic disorder of sex development 
  • Genetic hyperparathyroidism
  • Genetic hypertension
  • Genetic inflammatory or rheumatoid-like osteoarthropathy
  • Genetic neuromuscular disease
  • Genetic peripheral neuropathy
  • Genetic renal tubular disease
  • Genetic syndromic Pierre Robin syndrome
  • Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature
  • Genetic vitreous-retinal disease
  • Genetic visceral malformation of the liver, biliary tract, pancreas or spleen
  • Geniculate Neuralgia
  • Giant axonal neuropathy
  • Giant cell arteritis
  • Gilbert syndrome
  • Glaucoma - sleep apnea
  • Gliadin/Gluten ataxia
  • Glioblastoma
  • Glossopharyngeal neuralgia
  • Glucose-6-phosphate-dehydrogenase deficiency
  • Glucose transport disorder
  • Glutaryl-CoA dehydrogenase deficiency
  • Glycine encephalopathy
  • Glycogen storage disease
  • Glycogen storage disease due to acid maltase deficiency
  • Glycogen storage disease due to glycogen debranching enzyme deficiency
  • Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency
  • Glycogen storage disease due to muscle glycogen phosphorylase deficiency
  • Glycogen storage disease due to muscle phosphofructokinase deficiency
  • Glycogen storage disease due to muscle phosphorylase kinase deficiency
  • Gnathodiaphyseal dysplasia
  • GNB5-related intellectual disability-cardiac arrhythmia syndrome 
  • GNE myopathy
  • Goldenhar syndrome
  • Gorlin syndrome
  • Granuloma Annulare
  • Granulomatosis with polyangiitis
  • Granulomatous arthritis of childhood
  • Griscelli disease type 2
  • Grover Disease
  • Growth Hormone Deficiency
  • Guillain-Barre syndrome

H

  • Hantavirus pulmonary syndrome 
  • Harlequin syndrome
  • Hashimoto
  • Hashimoto hypothyroidism
  • Hashimoto thyroiditis
  • HCN1 Disorder
  • HELLP syndrome
  • Hemicrania continua
  • Hemihypertrophy
  • Hemimegalencephaly
  • Hemihyperplasia-multiple lipomatosis syndromeM
  • Hemochromatosis type 1
  • Hemochromatosis type 4
  • Hemolytic uremic syndrome
  • Hemophagocytic syndrome
  • Hemophilia
  • Hemophilia A
  • Hemophilia B
  • Hemoglobin E - beta-thalassemia
  • Hepatoblastoma
  • Hereditary alpha tryptasemia (HaTS)
  • Hereditary amyloidosis
  • Hereditary breast cancer
  • 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 gingival fibromatosis
  • Hereditary hemorrhagic telangiectasia
  • Hereditary leiomyomatosis and renal cell cancer
  • Hereditary motor and sensory neuropathy
  • Hereditary myopathy with early respiratory failure
  • Hereditary neuralgic amyotrophy
  • Hereditary neuropathy with liability to pressure palsies
  • Hereditary nonpolyposis colon cancer
  • Hereditary pheochromocytoma-paraganglioma
  • Hereditary proximal myopathy with early respiratory failure
  • Hereditary sensory and autonomic neuropathy type 7
  • Hereditary sensory neuropathy deafness dementia syndrome
  • Hereditary spastic paraplegia
  • Hereditary spherocytosis
  • Hereditary thrombophilia due to congenital protein C deficiency
  • Hereditary vascular retinopathy
  • Heritable pulmonary arterial hypertension
  • Herpes simplex virus encephalitis
  • Herpes simplex virus keratitis
  • Herpetic encephalitis
  • Heterozygous familial hypercholesterolemia
  • HHV-6 Meningitis
  • Hidradenitis suppurativa
  • Hidrotic ectodermal dysplasia, Halal type
  • Hip dysplasia, Beukes type
  • HIVEP2-related intellectual disability
  • Hodgkin lymphoma
  • Holmes-Adie syndrome
  • Holoprosencephaly-radial heart renal anomalies syndrome
  • Homocystinuria due to methylene tetrahydrofolate reductase deficiency
  • Homozygous familial hypercholesterolemia
  • Horror Fusionis
  • HSP with MAG-Associated Ataxia
  • Huntington disease
  • Huntington disease-like 1
  • Hydrocephalus - costovertebral dysplasia - Sprengel anomaly
  • Hydrops fetalis
  • Hyperacusis (Hyperacousis)
  • Hypermobile Ehlers-Danlos syndrome
  • Hypernychthemeral syndrome
  • Hypersomnia Associated with a Psychiatric Condition
  • Hypersomnia Due to a Medical Condition
  • Hypersomnolence Disorder
  • Hypertrophic cardiomyopathy
  • Hypertrophic olivary degeneration
  • Hypnic headache
  • Hypnic jerking
  • Hypobetalipoproteinemia
  • Hypocomplementemic urticarial vasculitis
  • Hypodontia
  • Hypogenesis
  • Hypogonadotropic hypogonadism associated with other endocrinopathies
  • Hypokalemic periodic paralysis
  • Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome
  • Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome
  • 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
  • Hypothyroidism due to TSH receptor mutations
  • 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
  • Ichthyosis - male hypogonadism
  • Idiopathic achalasia
  • Idiopathic acute transverse myelitis
  • Idiopathic aplastic anemia
  • Idiopathic avascular necrosis
  • Idiopathic bilateral vestibulopathy
  • Idiopathic CD4 lymphocytopenia
  • Idiopathic eosinophilic pneumonia
  • Idiopathic facial palsy
  • Idiopathic gastroparesis
  • Idiopathic hypercalciuria
  • Idiopathic hypereosinophilic syndrome
  • Idiopathic hypersomnia
  • Idiopathic hypersomnia with long sleep time
  • Idiopathic hypersomnia without long sleep time
  • Idiopathic infantile nystagmus
  • Idiopathic inflammatory myopathy
  • Idiopathic intracranial hypertension
  • Idiopathic juvenile osteoporosis
  • Idiopathic pulmonary arterial hypertension
  • Idiopathic pulmonary fibrosis
  • Idiopathic spontaneous coronary artery dissection
  • Idiopathic syringomyelia
  • IgG4-related disease
  • IgG4-related pachymeningitis
  • Immune-mediated necrotizing myopathy
  • Immune deficiency with skin involvement 
  • Immune dysregulation disease with immunodeficiency 
  • Immune dysregulation with inflammatory bowel disease
  • Immune dysregulation with inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome
  • Immune thrombocytopenia 
  • Immune thrombocytopenic purpura
  • Immunoglobulin A deficiency
  • Immunoglobulin A vasculitis
  • Immunoglobulin heavy chain deficiency
  • Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency
  • Immunodeficiency due to selective anti-polysaccharide antibody deficiency
  • Inclusion body myopathy with Paget disease of boneand frontotemporal dementia
  • Inclusion body myositis
  • Indolent systemic mastocytosis
  • Infantile bilateral striatal necrosis
  • Infantile cerebellar-retinal degeneration
  • Infantile glycine encephalopathy
  • Infantile hypophosphatasia
  • Infantile Krabbe disease
  • Infantile neuroaxonal dystrophy
  • Infantile neuronal ceroid lipofuscinosis
  • Infantile nephropathic cystinosis
  • Infantile-onset ascending hereditary spastic paralysis
  • Infantile-onset spinocerebellar ataxia
  • Infantile Refsum disease
  • Infantile spasms syndrome
  • Inflamatory myofibroblastic tumor
  • Infection or post infection ataxia
  • Infectious, fungal or parasitic myopathy
  • Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations
  • Inherited congenital spastic tetraplegia
  • Inherited human prior disease
  • Inherited ichthyosis
  • Insulinoma
  • Intellectual disability - alacrima – achalasia
  • Intellectual disability - cataracts - kyphosis syndrome
  • Intellectual disability - dysmorphism - hypogonadism - diabetes mellitus
  • Intellectual disability - hypotonia - spasticity - sleep disorder
  • Intellectual disability - microcephaly-strabismus-behavioral abnormalities syndrome
  • Intellectual disability - short stature – h
  • Intellectual disability - sparse hair - brachydactyly
  • Interauricular communication
  • Intermediate maple syrup urine disease
  • Intermediate severe Salla disease
  • Intermittent maple syrup urine disease
  • Internal carotid agenesis
  • Interstitial cystitis
  • Interstitial lung disease
  • Intestinal Malrotation
  • Intestinal Metabolic Bromhidrosis Syndrome
  • Interventricular septum aneurysm
  • Inverse Klippel-Trenaunay syndrome
  • Inverse Marcus-Gunn phenomenon
  • IRF2BPL-related disorders
  • IRIDA syndrome
  • Isaac syndrome
  • Isolated agammaglobulinemia
  • Isolated aniridia
  • Isolated ATP synthase deficiency
  • Isolated brachycephaly
  • Isolated complex I deficiency
  • Isolated CoQ-cytochrome C reductase deficiency
  • Isolated Dandy-Walker malformation with hydrocephalus
  • Isolated dystonia
  • Isolated encephalocele
  • Isolated facial myokmia
  • Isolated focal cortical dysplasia type IIa
  • Isolated Klippel-Feil syndrome
  • Isolated optic nerve hypoplasia
  • Isolated Pierre Robin syndrome
  • Isolated spina bifida
  • Isolated thyroid-stimulating hormone deficiency
  • Isolated tracheoesophageal fistula
  • Isolated trigonocephaly
  • Ivemark syndrome

J

  • Jacobsen syndrome
  • Jeavons syndrome
  • Joubert syndrome
  • Joubert syndrome with ocular defect
  • Juvenile glaucoma
  • Juvenile Huntington disease
  • Juvenile idiopathic arthritis
  • Juvenile myasthenia gravis
  • Juvenile myoclonic epilepsy
  • Juvenile nephropathic cystinosis
  • 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
  • KCNB1 gene
  • Keutel syndrome
  • Kennedy disease
  • Kennedy's Disease (SBMA)
  • Keratocystic odontogenic tumor
  • Keratoconus
  • Kienbock disease
  • KIF4A Associated Syndrome
  • Kindler syndrome
  • Kleefstra syndrome
  • Klinefelter syndrome (non rare in Europe)
  • Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome
  • Kleine-Levin syndrome

L

  • Lambert-Eaton myasthenic syndrome (LEMS)
  • Langerhans cell histiocytosis
  • Landau-Kleffner syndrome
  • Late infantile neuronal ceroid lipofuscinosis
  • Late-onset isolated ACTH deficiency
  • Late-onset primary lymphedema
  • Lateral meningocele syndrome
  • Laing early-onset distal myopathy
  • Larynx anomaly 
  • Leber congenital amaurosis
  • Leber hereditary optic neuropathy
  • Ledderhose disease
  • Left ventricular noncompaction
  • Legionellosis
  • Legius syndrome
  • Leigh syndrome
  • Leigh syndrome with cardiomyopathy
  • Leigh syndrome with leukodystrophy
  • Leiomyosarcoma of small intestine
  • Leiomyosarcoma of the cervix uteri
  • Leiomyosarcoma of the corpus uteri
  • Lennox-Gastaut syndrome
  • LEOPARD syndrome
  • Lethal ataxia with deafness and optic atrophy
  • Lethal multiple pterygium syndrome
  • Leukodystrophy
  • Leukoencephalopathy - ataxia - hypodontia – hypomyelination
  • Leukoencephalopathy with mild cerebellar ataxia and white matter edema
  • Lhermitte-Duclos disease
  • Lichen Sclerosus
  • Liddle syndrome
  • Limb-girdle muscular dystrophy
  • Limbic encephalitis with LGI1 antibodies
  • Limited cutaneous systemic sclerosis
  • Limited systemic sclerosis
  • Linear IgA dermatosis
  • Linear nevus sebaceus syndrome
  • Lipomyelomeningocele
  • Lissencephaly
  • Lissencephaly with cerebellar hypoplasia
  • Listeriosis
  • Livedoid vasculopathy
  • Loeys-Dietz syndrome
  • Logopenic progressive aphasia 
  • Loin Pain Hematuria Syndrome
  • Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency   
  • Long qt type 6
  • Lumbosacral spina bifida cystica
  • Lyme disease
  • Lymphatic malformation
  • Lymphedema
  • Lymphocytic cholangitis
  • Lymphoma
  • Lymphomatoid papulosis
  • Lymphomatous meningitis
  • Lynch syndrome
     

M

  • Machado-Joseph disease type 1
  • Machado-Joseph disease type 2
  • Machado-Joseph disease type 3
  • Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
  • Macrophagic myofasciitis
  • Macular Pucker
  • Madras motor neuron disease
  • Maffucci syndrome
  • Majeed syndrome
  • Malan overgrowth syndrome
  • Mal de debarquement
  • Male infertility with spermatogenesis disorder due to single gene mutation
  • Malignant migrating focal seizures infancy
  • Malignant tumor of fallopian tubes
  • Manganese poisoning
  • Mantle cell lymphoma 
  • Maple syrup urine disease
  • Marburg acute multiple sclerosis
  • Marfan syndrome
  • Marfan and Marfan-related disorder
  • Marinesco-Sjögren syndrome
  • Marinesco Sjogren Syndrome(Marinesco-Sjogren syndrome)
  • Marshall Syndrome
  • Mast cell activation syndrome (MCAS)
  • Mastocytosis
  • Metabolic disease with intestinal involvement
  • Maternally-inherited Leigh syndrome
  • Mayer-Rokitansky-Kuster-Hauser syndrome
  • McCune-Albright syndrome
  • MECOM - MDS1 and EVI1 complex locus
  • MED13L Syndrome
  • Medium chain acyl-CoA dehydrogenase deficiency
  • Medullary sponge kidney
  • Megalencephaly-capillary malformation-polymicrogyria syndrome
  • Megacystis-microcolon-intestinal hypoperistalsis syndrome
  • MEGDEL syndrome
  • Melioidosis
  • Melorheostosis with osteopoikilosis
  • Meniere disease
  • Meningioma
  • Meningocele
  • Meningococcal meningitis
  • Menstrual-related hypersomnia (MRH)
  • MEPAN syndrome
  • MEPEN Syndrome
  • Mesothelioma
  • Metabolic disease due to other fatty acid oxidation disorder
  • Metabolic disease involving other neurotransmitter deficiency
  • Metabolic disease with pigmentary retinitis
  • Metachromatic leukodystrophy, adult form
  • Metaphyseal chondrodysplasia, Jansen type
  • Methicillin-Resistant Staphylococcus Aureus (MRSA) Infection
  • MDR3 deficiency 
  • Micro syndrome
  • Microcephalic osteodysplastic primordial dwarfism type II
  • Microcystic lymphatic malformation
  • Microcytic anemia with liver iron overload
  • Microscopic polyangiitis
  • Microtia
  • Middle ear myoclonus
  • Mikulicz disease
  • Mild hemophila A
  • Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis
  • Miller-Dieker syndrome
  • Miller-Fisher syndrome
  • MIRAGE syndrome
  • Miscellaneous movement disorder due to genetic neurodegenerative disease
  • Misophonia
  • Mitochondrial disease
  • Mitochondrial disease with eye involvement
  • Mitochondrial disease with peripheral neuropathy
  • Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes
  • Mitochondrial DNA-associated Leigh syndrome
  • Mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency
  • Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • Mitochondrial myopathy
  • Mitochondrial myopathy and sideroblastic anemia
  • Mixed connective tissue disease
  • Moderate and severe traumatic brain injury
  • MODY
  • Moebius syndrome
  • MOG Antibody Disease (MOGAD)
  • Mollaret's Meningitis
  • Monoclonal mast cell activation syndrome
  • Monomelic amyotrophy
  • Monosomy 18p
  • Monosomy 22q13
  • Morbus Scheuermann's
  • Morgellons
  • Morvan syndrome
  • Motor neuron disease
  • Mowat-Wilson syndrome
  • Moyamoya angiopathy
  • Moyamoya disease
  • MT-ATP6-related mitochondrial spastic paraplegia
  • Mucinous adenocarcinoma of the appendix
  • Mucinous adenocarcinoma of ovary
  • Muckle-Wells syndrome
  • Mucolipidosis II alpha/beta
  • Mucolipidosis II
  • Mucolipidosis II/III
  • Mucolipidosis III
  • Mucolipidosis III alpha/beta
  • Mucolipidosis type 3 alpha/beta
  • Mucolipidosis type 4
  • Mucopolysaccharidosis type 2
  • Mucopolysaccharidosis type 2, severe form
  • Mucopolysaccharidosis type 3
  • Mucopolysaccharidosis type 4A
  • Mucopolysaccharidosis type 6
  • Mucopolysaccharidosis type 7
  • Mucous membrane pemphigoid
  • Muenke syndrome
  • Multicystic dysplastic kidney
  • Multifocal atrial tachycardia
  • Multifocal motor neuropathy
  • Multiple endocrine neoplasia
  • Multiple endocrine neoplasia type 1
  • Multiple endocrine neoplasia type 2A
  • Multiple endocrine neoplasia type 2B
  • Multiple endocrine neoplasia type 4
  • Multiple fibroadenoma of the breast
  • Multiple myeloma
  • Multiple osteochondromas
  • Multiple sclerosis variant
  • Multiple system atrophy
  • Multiple system atrophy, cerebellar type
  • Multiple system atrophy, parkinsonian type
  • MURCS association
  • Muscle filaminopathy
  • Muscular atrophy - ataxia - retinitis pigmentosa - diabetes mellitus
  • Myalgic Encephalomyelitis
  • Myasthenia gravis
  • Myoclonic dystonia 15
  • Mycoplasma encephalitis
  • Myelomeningocele
  • Myeloproliferative neoplasm
  • MYO5B-related progressive familial intrahepatic cholestasis
  • Myofibrillar myopathy
  • Myotonic dystrophy
  • MYT1L Syndrome

N

  • Narcolepsy type 1
  • Narcolepsy type 2
  • Narcolepsy without cataplexy
  • Narcolepsy-cataplexy
  • NARP syndrome
  • Necrotizing soft tissue infection
  • Neonatal antiphospholipid syndrome
  • Neonatal hypoxic and ischemic brain injury
  • Neurogenic thoracic outlet syndrome
  • Nephroblastoma
  • Nephrogeneic diabetes insipidus
  • Nephropathic infantile cystinosis
  • Nephropathy secondary to a storage or other metabolic disease
  • Neuralgic amyotrophy
  • Neurenteric cyst
  • Neuroblastoma
  • Neuroacanthocytosis
  • Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency
  • 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
  • Neurotrophic keratopathy
  • Neurological channelopathy
  • Neuronal ceroid lipofuscinosis
  • New daily-persistent headache
  • Niemann-Pick disease type A
  • Niemann-Pick disease type C
  • Niemann-Pick disease type C, juvenile neurologic onset
  • NLRP12-associated hereditary periodic fever syndrome
  • Non-24-hour sleep-wake syndrome
  • Non-acquired combined pituitary hormone deficiency
  • Non-arteritic anterior ischemic optic neuropathy
  • Non-alcoholic fatty liver disease
  • Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
  • Non-functioning pituitary adenoma
  • Non-hereditary degenerative ataxia
  • Non-Hodgkin lymphoma
  • Non-ketotic Hyperglycinemia 
  • Non-infectious posterior uveitis
  • Non-recovering obstetric brachial plexus lesion
  • Non-secreting paraganglioma
  • Non-syndromic congenital cataract
  • Non-syndromic pontocerebellar hypoplasia
  • Noonan syndrome
  • Normal pressure hydrocephalus
  • Not NOTCH3-related small vessel disease of the brain
  • NTHL1 Tumor Syndrome

O

  • Ochoa syndrome
  • Ocular cystinosis
  • Ocular motor apraxia, Cogan type
  • Oculocerebrorenal syndrome
  • Oculocerebrorenal syndrome of Lowe
  • Oculocutaneous albinism type 2
  • Odontohypophosphatasia
  • Oligodendroglioma
  • Oligodontia
  • Olivopontocerebellar atrophy - deafness
  • Omphalocele
  • Ondine syndrome
  • Opsoclonus-myoclonus syndrome
  • Optic Nerve Atrophy
  • Optic neuropathy
  • Optic pathway glioma
  • Oral erosive lichen
  • Oroya fever
  • Ornithine transcarbamylase deficiency
  • Osteochondritis dissecans
  • Osteogenesis imperfecta
  • Osteogenesis imperfecta type 1
  • Osteonecrosis
  • Osteopenia - myopia - hearing loss - intellectual disability - facial dysmorphism 
  • Osteopetrosis
  • Other acquired skin disease
  • Other complex syndrome of primary immunodeficiency 
  • Other genetic dermis disorder
  • Other immunodeficiency syndrome due to defects in adaptive immunity
  • Other immunodeficiency syndrome due to defects in innate immunity 
  • Other metabolic disease
  • Other metabolic disease with epilepsy
  • Other syndrome with a central nervous system malformation as major feature
  • Otopalatodigital syndrome

P

  • Pachydermoperiostosis
  • Paget disease of bone
  • Paget disease of the nipple
  • Panhypopituitarism
  • Pancreatic endocrine tumor
  • PANDAS
  • Paraneoplastic neurologic syndrome
  • Paroxysmal hypnogenic dyskinesia
  • Paraplegia - intellectual disability - hyperkeratosis
  • Paris-Trousseau thrombocytopenia
  • Paroxysmal exertion-induced dyskinesia
  • Pars Planitis Uveitis
  • Partial acquired lipodystrophy
  • Partial androgen insensitivity syndrome
  • Partial autosomal trisomy/tetrasomy
  • Partial deletion of chromosome 19
  • Partial deletion of chromosome 18
  • 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 deletion of the short arm of chromosome 16
  • Partial duplication of the short arm of chromosome 3
  • Partial duplication of the short arm of chromosome 8
  • Partial duplication of the long arm of chromosome 1
  • Partial duplication of the long arm of chromosome 22
  • Patent ductus arteriosus - bicuspid aortic valve - hand anomalies
  • Patent foramen ovale
  • Partial duplication of the short arm of chromosome 4
  • Partial trisomy/tetrasomy of the short arm of chromosome 12
  • Partial trisomy of the long arm of chromosome 18
  • Papillary or follicular thyroid carcinoma
  • Patulous Eustachian tube (PET)
  • Pediatric arterial ischemic stroke
  • Pediatric-onset Graves diesease
  • Pelvis-shoulder dysplasia
  • Peeling skin syndrome
  • Pellagra-like skin rash-neurological manifestations syndrome
  • Pemphigus foliaceus
  • Pemphigus vulgaris
  • Pendred syndrome
  • Pentalogy of Cantrell
  • Perinatal lethal hypophosphatasia
  • Perineural cyst
  • Periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • Periodic fever syndrome
  • Periodic limb movement disorder
  • Peripheral motor neuropathy - dysautonomia
  • Peripartum cardiomyopathy
  • Peroxisome biogenesis disorder-Zellweger syndrome spectrum
  • Perrault syndrome
  • Perry syndrome
  • Peters anomaly
  • Peters anomaly – cataract
  • Pettigrew syndrome (PGS)
  • PFAPA syndrome
  • PHACE syndrome
  • Phenylketonuria
  • Phyllode tumor
  • Pierre Robin syndrome associated with a chromosomal anomaly
  • Pierre Robin syndrome associated with collagen disease
  • Pili gemini
  • Pilocytic astrocytoma
  • Pitt-Hopkins syndrome
  • Pituitary deficiency due to empty sella turcica syndrome
  • Pituitary stalk interruption syndrome
  • Pituitary tumor
  • Platelet storage pool disease
  • PLEC-Related Disorder
  • Pleomorphic liposarcoma
  • PMM2-CDG
  • Pneumococcal meningitis
  • POEMS syndrome
  • Poland syndrome
  • POLG1
  • Polyarticular juvenile idiopathic arthritis
  • Polycythemia vera
  • Polydactyly
  • Polymicrogyria
  • Polymyalgia rheumatica
  • Polymyositis
  • Polyneuropathy - hearing loss - ataxia - retinitis pigmentosa – cataract
  • Polyostotic fibrous dysplasia
  • Pontine tegmental cap dysplasia
  • Popliteal pterygium syndrome
  • Porokeratosis
  • Post-Head Injury Ataxia
  • Posterior column ataxia - retinitis pigmentosa
  • Posterior fossa malformation
  • Postpoliomyelitic syndrome
  • Post-Stroke Ataxia
  • Postaxial acrofacial dysostosis
  • Postlingual non-syndromic genetic deafness
  • Post-transplant lymphoproliferative disease
  • Postural Orthostatic Tachycardia Syndrome
  • Postural orthostatic tachycardia syndrome due to NET deficiency
  • Potocki-Shaffer syndrome
  • Polycythemia
  • Porphyria cutanea tarda
  • Prader-Willi syndrome
  • Precocious puberty
  • Preeclampsia
  • Premature aging appearance-developmental delay-cardiac arrhythmia syndrome
  • Prenatal benign hypophosphatasia
  • Pressure-induced localized lipoatrophy
  • Primary avascular necrosis
  • Primary adrenal insufficiency
  • Primary basilar impression
  • Primary basilar invagination
  • Primary biliary cholangitis
  • Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome
  • Primary ciliary dyskinesia
  • Primary cutaneous amyloidosis
  • Primary erythomelalgia
  • Primary Fanconi syndrome
  • Primary Fanconi renotubular syndrome
  • Primary mediastinal large B-cell lymphoma
  • Primary parathyroid hyperplasia
  • Primary Progressive Multiple Scleoresis
  • Primary sclerosing cholangitis
  • Primary Sjögren syndrome
  • Primary tethered chord syndrome
  • Primary Visual Agnosia
  • Prinzmetal Angina
  • Progressive bifocal chorioretinal atrophy
  • Progressive familial intrahepatic cholestasis
  • Progressive familial intrahepatic cholestasis type 1
  • Progressive familial intrahepatic cholestasis type 2
  • Progressive familial intrahepatic cholestasis type 4
  • Progressive hemifacial atrophy
  • Progressive multifocal leukoencephalopathy
  • Progressive muscular atrophy
  • Progressive muscular dystrophy
  • Progressive myoclonic epilepsy type 6
  • Progressive non-fluent aphasia
  • Progressive retinal dystrophy due to retinol transport defect
  • Progressive supranuclear palsy
  • Progressive supranuclear palsy - parkinsonism
  • Prolactinoma
  • Propriospinal Myoclonus
  • Proximal 16p11.2 microduplication syndrome
  • Proximal spinal muscular atrophy type 1
  • Proximal spinal muscular atrophy type 3
  • Prune belly syndrome
  • Prurigo nodularis
  • Pseudohypoaldosteronism type 2
  • Psoriatic arthritis (Non rare in Europe)
  • Psychogeneic movement disorders
  • PTEN hamartoma tumor syndrome
  • Ptosis
  • Pulmonary arterial hypertension
  • Pulmonary interstitial glycogenosis
  • Pulmonary branch stenosis
  • Pulmonary non-tuberculous mycobacterial infection
  • Pulmonary valve agenesis - Fallot`s tetralogy - absence of ductus arteriosus
  • Pulmonary valve agenesis - ventricular septal defect - persistent ductus arteriosus
  • PURA syndrome
  • Pure autonomic failure
  • Pure hereditary spastic paraplegia
  • Pustulosis palmaris et plantaris
  • Pycnodysostosis
  • Pyoderma gangrenosum
  • Pyoderma gangrenosum - acne - suppurative hidradenitis
  • Pyridoxine-dependent epilepsy
  • Pyruvate carboxylase deficiency
  • Pyruvate dehydrogenase deficiency
  • Pyruvate dehydrogenase E1-alpha deficiency
  • Pyruvate dehydrogenase E3 deficiency 
  • Pyruvate dehydrogenase E3-binding protein deficiency
     

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
  • Rala Neurodevelopment Disorder
  • Ramsay Hunt syndrome
  • Rapid-onset childhood obesity - hypothalamic dysfunction - hypoventilation - autonomic dysregulation syndrome
  • Rare acquired eye disease
  • Rare adult hypothyroidism
  • Rare autonomic nervous system disorder
  • Rare bone disease
  • Rare cardiac disease
  • Rare chromosomal anomaly
  • Rare diabetes mellitus
  • Rare diabetes mellitus type 1
  • Rare disease with autism
  • Rare disease in surgical orthopedic
  • Rare disease with thoracic aortic aneurysm and aortic dissection
  • Rare disorder with dystonia and other neurologic or systemic manifestation
  • Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder
  • Rare genetic bone disease
  • Rare genetic epilepsy
  • Rare genetic hypothalamic or pituitary disease
  • Rare genetic intellectual disability with developmental anomaly
  • Rare genetic neurological disorder
  • Rare genetic retinal disorder
  • Rare headache
  • Rare hereditary hemochromatosis
  • Rare hereditary ataxia
  • Rare hyperparathyroidism
  • Rare hypoparathyroidism
  • Rare inflammatory bowel disease
  • Rare malignant breast tumor
  • Rare movement disorder
  • Rare optic nerve disorder
  • Rare peripheral neuropathy
  • Rare pervasive developmental disorder
  • Rare pulmonary hypertension
  • Rare retinal disorder
  • Rare retinal vasculopathy
  • Rare rheumatologic disease
  • Rare sleep disorder
  • Rare surgical neurologic disease
  • Rare thrombotic disorder due to an acquired coagulation factors defect
  • Rare tremor disorder
  • Rare uterine cancer
  • Rare vascular disease
  • Reactive arthritis
  • Reading seizures
  • Recessive dystrophic epidermolysis bullosa inversa
  • Recessive mitochondrial ataxia syndrome
  • Recurrent infections associated with rare immunoglobulin isotypes deficiency
  • Refractory celiac disease
  • Refsum disease
  • Relapsing fever
  • Relapsing polychondritis
  • Related Metabolic Encephalopathy and Arrhythmias
  • Renal agenesis
  • Renal nutcracker syndrome
  • Renal or urinary tract malformation
  • Reticular dystrophy of the retinal pigment epithelium
  • Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies
  • Retinitis pigmentosa
  • Retinoblastoma
  • Retinopathy of prematurity
  • Rett syndrome
  • RFC1 CANVAS
  • Rheumatoid arthritis (Non rare in Europe) 
  • Rhombencephalosynapsis
  • Rickettsial disease
  • Right inferior vena cava connecting to left-sided atrium
  • Ring chromosome 14
  • Ring chromosome 20 syndrome
  • RLIM related disorders and Tonne-Kalscheuer Syndrome
  • Rocky Mountain spotted fever
  • Rolandic epilepsy
  • Rolandic epilepsy - paroxysmal exercise-induced dystonia - writer`s cramp
  • Romano-Ward syndrome
  • Rosai-Dorfman disease
  • Ross Syndrome
  • RUVBL2 mutation

S

  • Sacral agenesis (SA/CRS)
  • Sanfilippo syndrome type A
  • Sanfilippo syndrome type B
  • SAPHO syndrome
  • Sarcoidosis
  • Scheuermann's disease
  • Scheuermann's kyphosis
  • Schinzel-Giedion syndrome
  • Schizencephaly
  • Schizophrenia (Non rare in Europe)
  • Scleredema
  • Scleroderma
  • Scleromyxedema
  • Sclerosing mesenteritis
  • SCN10A mutation
  • SCN2A
  • Seckel syndrome
  • Secondary hemophagocytic lymphohistiocytosis
  • Secondary hypoparathyroidism due to impaired parathormon secretion
  • Secondary polycythemia
  • Secondary syringomyelia
  • Selective IgM deficiency
  • Semicircular canal dehiscence syndrome
  • Sensorineural hearing loss - early graying - essential tremor
  • Senior-Loken syndrome
  • Septo-optic dysplasia
  • Severe dermatitis-multiple allergies-metabolic wasting syndrome
  • Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome
  • Severe primary trimethylaminuria 
  • Sex chromosome disorder of sex development
  • Sherman's disease
  • SHINE syndrome
  • Shone complex
  • Short bowel syndrome
  • Short stature-advanced bone age-early-onset osteoarthritis syndrome
  • SHOX-related short stature
  • Sialidosis
  • Sialidosis type 1
  • Sickle cell - beta-thalassemia disease
  • Silver-Russell syndrome
  • Silver-Russell syndrome due to imprinting defect of 11p15
  • Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
  • Simple cryoglobulinemia
  • Sjoumlgren syndrome
  • SLC39A8-CDG
  • Sleep disorder
  • Sleep myoclonus
  • Small cell carcinoma of the bladder
  • Small cell lung cancer
  • SMC1A Truncated Mutations (causing loss of gene function)
  • Smith-Lemli-Opitz syndrome
  • Sodium channelopathy-related small fiber neuropathy
  • Solar urticaria
  • Solitary median maxillary central incisor syndrome
  • Solitary rectal ulcer syndrome
  • Sjogren-Larsson syndrome
  • Spastic ataxia
  • Spastic diplegia, infantile type
  • Spastic paraplegia type 7
  • Specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells
  • Specific learning disability
  • SPEN mutation
  • Spinal cord injury
  • Spinal muscular atrophy associated with central nervous system anomaly
  • Spinal muscular atrophy with respiratory distress type 1
  • Spinal Myoclonus
  • 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 26
  • Spinocerebellar ataxia type 27
  • Spinocerebellar ataxia type 27B
  • 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 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 epilepsy
  • Spinocerebellar ataxia with oculomotor anomaly
  • Split cord malformation
  • Spondylometaphyseal dysplasia - cone-rod dystrophy
  • Spondylodysplastic Ehlers-Danlos syndrome
  • Spontaneous Coronary Artery Dissection
  • Spontaneous intracranial hypotension
  • Sporadic adult-onset ataxia of unknown etiology
  • Sprengel deformity
  • Squamous cell carcinoma of anal canal
  • Squamous cell carcinoma of the larynx
  • Staphylococcal toxemia
  • STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome
  • Steinert myotonic dystrophy
  • Sterile multifocal osteomyelitis with periostitis and pustulosis
  • 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
  • Sturge-Weber syndrome
  • STXBP1-related encephalopathy
  • Superficial siderosis
  • Superior Mesenteric Artery Syndrome
  • Supravalvular aortic stenosis
  • Supravalvular pulmonary stenosis
  • SURF1-related Charcot-Marie-Tooth disease type 4
  • Susac syndrome
  • Susceptibility to chronic infection by Epstein-Barr virus
  • Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers
  • Syndrome associated with Pierre Robin syndrome
  • Syndrome with hypoparathyroidism
  • Syringomyeli
  • Systemic capillary leak syndrome
  • Systemic disease with cataract
  • Systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood
  • Systemic mastocytosis
  • Systemic primary carnitine deficiency
  • Systemic sclerosis      

T

  • tanc2 syndrome
  • Tango2 Disease 
  • TARS2 gene mutation
  • Tay-Sachs disease
  • Temporomandibular joint anomaly
  • TENM1
  • Tetanus
  • Tetralogy of Fallot
  • Thiamine-responsive maple syrup urine disease
  • Thiamine-responsive megaloblastic anemia syndrome
  • Thomsen and Becker disease
  • Thoracic outlet syndrome
  • Thrombotic thrombocytopenic purpura
  • Tolosa-Hunt syndrome
  • Toriello-Lacassie-Droste syndrome
  • Tornwaldt Cyst
  • Tourette syndrome
  • Toxic Exposure ataxia
  • TPK1 - Thiamine pyrophosphokinase deficiency
  • Transient familial neonatal hyperbilirubinemia
  • Transient Global Amnesia (TGA) 
  • Transposition of the great arteries
  • Transthyretin-related familial amyloid cardiomyopathy
  • Treacher-Collins syndrome
  • Trench fever
  • Trichorhinophalangeal syndrome
  • Trigeminal autonomic cephalalgia
  • Trigeminal neuralgia
  • TRIM63
  • Trimethylaminuria: NON RARE IN EUROPE 
  • Triple A syndrome
  • Trisomy 5p
  • Trisomy X
  • TRPV4-related bone disorder
  • TSH-secreting pituitary adenoma
  • TUBB2A mutation
  • Tuberous sclerosis
  • Tubulointerstitial nephritis and uveitis syndrome
  • Tumor of cranial and spinal nerves
  • Tumor necrosis factor receptor 1 associated periodic syndrome
  • Turner syndrome
  • Type II mixed cryoglobulinemia
  • Typical urticaria pigmentosa
  • Tyrosinemia type 1

U

  • UMOD-related autosomal dominant tubulointerstitial kidney disease 
  • Unclassified autosomal dominant spinocerebellar ataxia
  • Unclassified juvenile idiopathic arthritis
  • Unclassified myelodysplastic syndrome
  • Unclassified overlapping connective tissue disease
  • Undetermined colitis
  • Undiagnosed
  • Undifferentiated connective tissue syndrome
  • Unilateral multicystic dysplastic kidney
  • Uveal melanoma
  • Uveitis
  • Unexplained periodic fever syndrome

V

  • Variant of Guillain-Barre Syndrome
  • Vascular malformation
  • Van der Woude syndrome
  • VCP Disease
  • Ventricular septal defect
  • Very long chain acyl-CoA dehydrogenase deficiency
  • Vestibular schwannoma
  • Visual snow syndrome
  • Vitamin B12 Deficiency Ataxia
  • Vitiligo-associated autoimmune disease
  • Vogt-Koyanagi-Harada disease
  • Von Willebrand disease
  • Von Willebrand disease type 1
  • Von Willebrand disease type 2A
  • Von Willebrand disease type 2B
  • Vulto-Van Silfhout-de Vries Syndrome

W

  • WAGR syndrome
  • Waldenstrom macroglobulinemia
  • Walker-Warburg syndrome
  • Warburg Micro Syndrome 1
  • Warburg Micro Syndrome 1_old
  • Wernicke encephalopathy
  • West-Nile encephalitis
  • West syndrome
  • Wiedemann-Steiner syndrome
  • Wildervanck syndrome
  • Williams syndrome
  • WHIM syndrome
  • White matter hypoplasia - corpus callosum agenesis - intellectual disability
  • Wolf-Hirschhorn syndrome
  • Wolff-Parkinson-White syndrome: NON RARE IN EUROPE
  • Wolfram syndrome
  • WOREE syndrome

X

  • Xeroderma pigmentosum-Cockayne syndrome complex
  • X-linked adrenoleukodystrophy
  • X-linked agammaglobulinemia
  • X-linked centronuclear myopathy
  • X-linked cerebral adrenoleukodystrophy
  • X-linked Charcot-Marie-Tooth disease type 6
  • X-linked dominant chondrodysplasia punctata
  • X-linked hypophosphatemia
  • X-linked intellectual disability, Lubs type
  • X-linked lethal multiple pterygium syndrome
  • X-linked lymphoproliferative disease
  • X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency
  • X-linked mixed deafness with perilymphatic gusher
  • X-linked progressive cerebellar ataxia
  • Xq25 microduplication syndrome

Y

  • Yao Syndrome
  • Yellow nail syndrome

Z

  • Zellweger syndrome
  • Zollinger-Ellison syndrome
  • ZYMND11

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