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 10,000 rare diseases affect 25 million Americans and 350 million people worldwide.

The Coordination of Rare Diseases at Sanford (CoRDS) registry was created to support research by collecting information directly from individuals and families affected by rare conditions.

CoRDS is a general rare disease registry. Individuals with any rare disease may participate, even if their condition is not widely studied or does not have a dedicated registry.

About the Conditions Listed Below
The conditions listed below represent diagnoses that have been reported by participants in the CoRDS registry.
• A listed condition does not necessarily indicate a large number of participants
• Some conditions may have limited or no disease-specific questionnaires

Don’t see your condition?
You can still participate.
CoRDS accepts individuals with any rare disease, including those who are:
• Undiagnosed
• Newly diagnosed
• Living with very rare or unique conditions
By joining CoRDS, you contribute to a growing resource that helps researchers better understand rare diseases over time.

 

 

Represented Diseases

0-9

  • 10q22.3q23.3 microdeletion syndrome
  • 10q22.3q23.3 microduplication syndrome
  • 11p11.2 deletion
  • 11p12 duplication
  • 12q24 duplication
  • 13q32 deletion
  • 14q22q23 microdeletion syndrome
  • 14q22-q23 microdeletion syndrome
  • 15q11.2 microdeletion syndrome
  • 15q11q13 duplication syndrome
  • 15q11q13 microduplication syndrome
  • 15q13.3 microdeletion syndrome
  • 15q25.2 microdeletion syndrome
  • 15q26 deletion syndrome
  • 15q26.3 microdeletion syndrome
  • 16p11.2p12.2 microdeletion syndrome
  • 16p13.11 microdeletion syndrome
  • 16p13.11 microduplication syndrome
  • 16p13.3 microduplication syndrome
  • 17q11.2 microduplication syndrome
  • 17q12 microduplication syndrome
  • 18q deletion syndrome
  • 19p13.12 microdeletion syndrome
  • 19p13.13 microdeletion syndrome
  • 1p36 deletion syndrome
  • 1q21.1 microdeletion syndrome
  • 1q21.1 microduplication syndrome
  • 1q21.3 microdeletion
  • 1q44 microdeletion syndrome
  • 20p12.3 microdeletion syndrome
  • 21q22.11q22.12 microdeletion syndrome
  • 22q11.2 deletion syndrome
  • 22q11.2 microduplication syndrome
  • 2p16.3 deletion
  • 2q13 Chromosome Deletion
  • 2q23.1 microdeletion syndrome
  • 2q24 microdeletion syndrome
  • 2q31.1 microdeletion syndrome
  • 2q33.1 microdeletion syndrome
  • 2q33.1q34 deletion syndrome
  • 2q37 microdeletion syndrome
  • 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
  • 3MC syndrome
  • 3-methylglutaconic aciduria
  • 3-methylglutaconic aciduria with deafness - encephalopathy - Leigh-like syndrome
  • 45,X/46,XY mixed gonadal dysgenesis
  • 46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency
  • 46,XY difference of sexual development due to dihydrotestosterone backdoor pathway biosynthesis defect
  • 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome
  • 47,XXY syndrome
  • 4H leukodystrophy
  • 4p Deletion Syndrome, Non-Wolf-Hirschhorn Syndrome
  • 4p- syndrome
  • 4q21 microdeletion syndrome
  • 5q13.3q22.1 duplication
  • 5q14.3 microdeletion syndrome
  • 6p23 Microdeletion
  • 8p23.1 duplication syndrome
  • 8p23.1 microduplication syndrome
  • 9q31.1q31.3 microdeletion syndrome

A

  • AAA syndrome
  • Aarskog syndrome
  • Aase-Smith I syndrome
  • ABCD syndrome
  • abcdef
  • Ablepharon macrostomia syndrome
  • Abnormal origin of right or left pulmonary artery from the aorta
  • Absence of pulmonary valve - Fallot's tetralogy - absence of ductus arteriosus
  • Absence of the septum pellucidum
  • Absent Pulmonary Valve Syndrome
  • Absent radius-anogenital anomalies syndrome
  • Absent thumb - short stature - immunodeficiency
  • Achalasia
  • Achalasia cardia
  • Achondroplasia
  • Acne inversa
  • Acoustic neurinoma
  • Acoustic neuroma
  • Acquired aneurysmal subarachnoid hemorrhage
  • Acquired angioedema
  • Acquired anterior horn cell disease
  • Acquired ataxia
  • Acquired CDI
  • Acquired central diabetes insipidus
  • Acquired chronic primary adrenal insufficiency
  • Acquired factor V deficiency
  • Acquired Fanconi syndrome secondary to monoclonal gammopathy
  • Acquired hemoglobin H disease
  • Acquired hemophagocytic lymphohistiocytosis
  • Acquired ichthyosis
  • Acquired idiopathic sideroblastic anemia
  • Acquired kidney disease-associated renal cell carcinoma
  • Acquired monoclonal Ig light chain-associated Fanconi syndrome
  • Acquired motor neuron disease
  • Acquired neurogenic diabetes insipidus
  • Acquired neuromyotonia
  • Acquired neutropenia
  • Acquired peripheral movement disorder
  • Acquired peripheral neuropathy
  • Acquired pernicious anemia
  • Acquired pituitary hormone deficiency
  • Acquired premature ovarian failure
  • Acquired sensory neuronopathy
  • Acquired von Willebrand disease
  • Acquired von Willebrand syndrome
  • Acral peeling skin syndrome
  • Acrodysostosis
  • Acrodysostosis with or without multiple hormonal resistance
  • Acrodysplasia scoliosis
  • Acrofacial dysostosis, Genee-Wiedmann type
  • Acrofacial dysostosis, Kennedy-Teebi type
  • Acrogeria
  • Acromegaly
  • Acromesomelic dysplasia
  • Acromesomelic dysplasia, Maroteaux type
  • Acromicric dysplasia
  • Acroosteolysis with osteoporosis and changes in skull and mandible
  • AcTA2 Mutation
  • ACTH-dependent Cushing syndrome
  • Actinomycosis
  • Acute adrenal failure
  • Acute adrenal insufficiency
  • Acute adrenocortical insufficiency
  • Acute biphenotypic leukemia
  • Acute cerebellar ataxia
  • Acute febrile neutrophilic dermatosis
  • Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome
  • Acute intermittent porphyria
  • Acute macular neuroretinopathy
  • Acute motor axonal neuropathy
  • Acute motor-sensory axonal Guillain-Barré syndrome
  • Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent
  • Acute panautonomic neuropathy
  • Acute posterior multifocal placoid pigment epitheliopathy
  • Acute postinfectious cerebellar ataxia
  • Acute promyelocytic leukemia
  • Acute transverse myelitis
  • Adams-Oliver syndrome
  • ADCA
  • ADCA1
  • ADCA3
  • ADCA-DN
  • ADCA-DN syndrome
  • Addison disease
  • Addison-Biermer anemia
  • Addisonian crisis
  • ADEM
  • Adenocarcinoma of the esophagus
  • Adhesive arachnoiditis
  • AD-HIES
  • Adie syndrome
  • Adie Syndrome
  • Adipose tissue rheumatism
  • Adiposis dolorosa
  • ADLD
  • ADNP syndrome
  • ADNP-related multiple congenital anomalies-intellectual disability-autism spectrum disorder
  • ADNP-related syndromic intellectual disability-autism spectrum disorder
  • ADOA
  • Adolescent-onset epilepsy syndrome
  • ADPKD
  • Adrenal CS
  • Adrenal Cushing syndrome
  • Adrenomyeloneuropathy
  • ADSL deficiency
  • Adult ARDS
  • Adult CRMO
  • Adult hypophosphatasia
  • Adult idiopathic neutropenia
  • Adult Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia (ALSP)
  • Adult phosphoethanolaminuria
  • Adult Rathbun disease
  • Adult Rathburn disease
  • Adult Refsum disease
  • Adult-onset acquired myasthenia
  • Adult-onset autoimmune myasthenia gravis
  • Adult-onset autosomal recessive cerebellar ataxia
  • Adult-onset cervical dystonia, DYT23 type
  • Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
  • Adult-onset CPEO with mitochondrial myopathy
  • Adult-onset cystinosis
  • Adult-onset distal myopathy due to VCP mutation
  • Adult-onset dystonia-parkinsonism
  • Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia
  • Adult-onset myasthenia gravis
  • Adult-onset PLS
  • Adult-onset spinocerebellar ataxia type 47
  • Adult-onset Still disease
  • AE
  • aEDS
  • AFG2A related disorder
  • AFG2B related disorder
  • AFG3L2-related spastic ataxia-neuropathy syndrome
  • Agammaglobulinemia
  • Agenesis of the septum pellucidum
  • Aggressive fibromatosis
  • Agnathia - holoprosencephaly - situs inversus
  • agnosis primary
  • AHA
  • AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome
  • aHUS
  • aHUS with anti-factor H antibodies
  • aHUS with C3 anomaly
  • aHUS with complement gene abnormality
  • aHUS with MCP/CD46 anomaly
  • aHUS with thrombomodulin anomaly
  • Aicardi syndrome
  • Aicardi-Goutières syndrome
  • AIDS wasting syndrome
  • AIH
  • AIH type 1
  • AIHA
  • Alagille syndrome
  • Alagille syndrome due to 20p12 microdeletion
  • Alagille syndrome due to a JAG1 point mutation
  • Alagille syndrome due to a NOTCH2 point mutation
  • Alagille-Watson syndrome
  • Albinism-black lock-cell migration disorder of the neurocytes of the gut-sensorineural hearing loss syndrome
  • Albright hereditary osteodystrophy
  • Alcohol related ataxia
  • ALD
  • ALE
  • ALG13-CDG
  • Algodystrophy
  • ALK+ ALCL
  • Allgrove syndrome
  • Alopecia
  • Alopecia - epilepsy - pyorrhea - intellectual disability
  • Alopecia universalis
  • Alpers-Huttenlocher syndrome
  • Alpha1-antitrypsin deficiency
  • Alpha-1-antitrypsin deficiency
  • Alpha-L-fucosidase deficiency
  • Alpha-mannosidosis
  • Alpha-methyl-acyl-CoA racemase deficiency
  • Alpha-thalassemia
  • Alport syndrome
  • ALS
  • ALS4
  • ALSG
  • ALSP
  • Alström syndrome
  • Alternating hemiplegia
  • AMACR deficiency
  • AMAN
  • Amaurosis congenita of Leber
  • AMC
  • Amelia of upper limb
  • Amelogenesis imperfecta
  • Amelogenesis imperfecta - nephrocalcinosis
  • Amelogenesis imperfecta-gingival hyperplasia syndrome
  • Amino acid or protein metabolism disease with epilepsy
  • AML
  • Amyloidosis
  • Amyopathic dermatomyositis
  • Amyotrophic lateral sclerosis
  • Anal fistula
  • Anaplastic thyroid carcinoma
  • ANCA-associated vasculitis
  • ANCL
  • Andermann syndrome
  • Anderson-Fabry disease
  • Aneurysm-osteoarthritis syndrome
  • Angelman syndrome
  • Angiokeratoma corporis diffusum
  • Angiosarcoma
  • Aniridia - absent patella
  • Aniridia (Familial)
  • Aniridia (Isolated)
  • Aniridia (Sporadic)
  • Aniridia-cerebellar ataxia-intellectual disability syndrome
  • Aniridia-ptosis-intellectual disability-familial obesity syndrome
  • ANKRD11
  • Ankyloblepharon filiforme adnatum-imperforate anus syndrome
  • Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
  • Ankylosing spondylarthritis
  • Ankylosing spondylitis
  • Anoctamin-5-related LGMD R12
  • Anodontia
  • Anophthalmia/microphthalmia - esophageal atresia
  • Anophthalmia-microphthalmia syndrome
  • Anorectal malformation
  • Anotia
  • Antenatal Epstein-Barr virus infection
  • Anterior maxillary protrusion-strabismus-intellectual disability syndrome
  • Anterior uveitis
  • Anti-GBM syndrome
  • Anti-IgLON5 syndrome
  • Anti-Jo1 syndrome
  • Antiphospholipid antibody syndrome
  • Antiphospholipid syndrome
  • Antisynthetase syndrome
  • AOA1
  • AOA2
  • AOA4
  • AOLCA
  • AORRP-Adult Onset Recurrent Respiratory Papillomatosis
  • Aorta coarctation
  • Aortic arch defects
  • Aortic arch interruption
  • Aortic dilatation-joint hypermobility-arterial tortuosity syndrome
  • AOS
  • AOSD
  • APBD
  • APC-related attenuated familial adenomatous polyposis
  • APDS
  • Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome
  • APLAID
  • Aplasia cutis congenita
  • Aplasia cutis congenita - epibulbar dermoids
  • APLS
  • APS type 2
  • APS1
  • APV/ADA, Fallot type
  • APV/PDA, non-Fallot type
  • Aquagenic palmoplantar keratoderma
  • Arachnoid cyst
  • Arachnoiditis
  • ARCA1
  • ARCI
  • ARCL2A
  • AR-HED
  • ARM
  • Arnold-Chiari malformation type 1
  • Arnold-Chiari malformation type I
  • Arpc4 gene variant
  • Arrhythmogenic right ventricular dysplasia
  • ARSACS
  • Arterial thoracic outlet compression syndrome
  • Arterial thoracic outlet syndrome
  • Arterial-ecchymotic EDS
  • Arteriohepatic dysplasia
  • Arthrochalasia EDS
  • Arthrochalasia Ehlers-Danlos syndrome
  • Arthrogryposis multiplex congenita
  • Arthrogryposis syndrome
  • Arthrogryposis-severe scoliosis syndrome
  • Arts syndrome
  • AS
  • ASD, coronary sinus type
  • ASD, ostium primum type
  • ASD, ostium secundum type
  • ASD, sinus venosus type
  • Aseptic necrosis of the tarsal bone
  • ASH1L Mutation
  • ASH-L mutation
  • Asidan
  • Ataxia - Genetic diagnosis - Unknown
  • Ataxia - oculomotor apraxia type 2
  • Ataxia - Oculomotor Apraxia Type 3
  • Ataxia - Oculomotor Apraxia Type 4
  • Ataxia - Other
  • Ataxia neuropathy spectrum
  • Ataxia with dementia
  • Ataxia with isolated vitamin E deficiency
  • Ataxia with pigmentary retinopathy
  • Ataxia with vitamin E deficiency
  • Ataxia, Intention tremor & Hypotonia syndrome (ATITHS)
  • Ataxia-hearing loss-intellectual disability syndrome
  • Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome
  • Ataxia-oculomotor apraxia type 1
  • Ataxia-pancytopenia syndrome
  • Ataxia-tapetoretinal degeneration syndrome
  • Ataxia-telangiectasia
  • Ataxia-telangiectasia variant
  • Ataxia-telangiectasia-like disorder
  • ATOS
  • ATP1A3 related disorders
  • Atresia of bile ducts
  • Atrial septal aneurysm
  • Atrial septal defect
  • Atrial septal defect, coronary sinus type
  • Atrial septal defect, ostium secundum type
  • Atrial septal defect, sinus venosus type
  • Atrioventricular septal defect
  • ATR-X syndrome
  • ATTRV122I-related amyloidosis
  • Atypical autism
  • Atypical hemolytic uremic syndrome
  • Atypical hemolytic uremic syndrome with anti-factor H antibodies
  • Atypical HUS
  • Atypical Meigs syndrome
  • Atypical MRKH syndrome
  • Atypical non-ketotic hyperglycinemia
  • Atypical Parkinson's
  • Atypical progressive supranuclear palsy syndrome
  • Atypical PSP
  • Autism spectrum disorder due to a POGZ deficiency
  • Autism spectrum disorder due to AUTS2 deficiency
  • Autism spectrum disorder-epilepsy-arthrogryposis syndrome
  • Autism-facial port-wine stain syndrome
  • Autoimmune Addison disease
  • Autoimmune Addison's disease
  • Autoimmune adrenalitis
  • Autoimmune bullous skin disease
  • Autoimmune cerebellitis
  • Autoimmune disease with skin involvement
  • Autoimmune gastrointestinal dysmotility
  • Autoimmune hemolytic anemia and autoimmune thrombocytopenia
  • Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome
  • Autoimmune hepatitis
  • Autoimmune hypoparathyroidism
  • Autoimmune hypoparathyroidism - chronic candidiasis - Addison's disease
  • Autoimmune Inner Ear Disease
  • Autoimmune interstitial lung disease-arthritis syndrome
  • Autoimmune myasthenia gravis
  • Autoimmune necrotizing myositis
  • Autoimmune neurological channelopathy
  • Autoimmune pancreatitis type 1
  • Autoimmune polyendocrine syndrome type 2
  • Autoimmune polyglandular syndrome type 2
  • Autoimmune thrombocytopenia
  • Autoimmune thrombotic thrombocytopenic purpura
  • Autoimmune thyroid disease and/or type 1 diabetes - Addison disease
  • Autoimmune/inflammatory optic neuropathy
  • Autoimmune/inflammatory syndrome induced by adjuvant with persisting aluminic granuloma
  • Autoinflammatory syndrome
  • Autoinflammatory syndrome of childhood
  • Autoinflammatory syndrome with immune deficiency
  • Autosomal dominant cerebellar ataxia
  • Autosomal dominant cerebellar ataxia type 2
  • Autosomal dominant cerebellar ataxia type 3
  • Autosomal dominant cerebellar ataxia type I
  • Autosomal dominant cerebellar ataxia type II
  • Autosomal dominant cerebellar ataxia type III
  • Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome
  • Autosomal dominant Charcot-Marie-Tooth disease type 2
  • Autosomal dominant Charcot-Marie-Tooth disease type 2A1
  • Autosomal dominant Charcot-Marie-Tooth disease type 2F
  • Autosomal dominant childhood-onset proximal spinal muscular atrophy
  • Autosomal dominant complex HSP
  • Autosomal dominant complex SPG
  • Autosomal dominant complicated HSP
  • Autosomal dominant dHMN
  • Autosomal dominant distal hereditary motor neuropathy
  • Autosomal dominant distal myopathy
  • Autosomal dominant Emery-Dreifuss muscular dystrophy
  • Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form
  • Autosomal dominant hereditary demyelinating motor and sensory neuropathy
  • Autosomal Dominant HLH
  • Autosomal dominant hyper-IgE syndrome
  • Autosomal dominant hypophosphatemia
  • Autosomal dominant hypophosphatemic rickets
  • Autosomal dominant isolated neurosensory hearing loss type DFNA
  • Autosomal dominant isolated sensorineural hearing loss type DFNA
  • Autosomal dominant Kenny-Caffey syndrome
  • Autosomal dominant limb-girdle muscular dystrophy
  • Autosomal dominant limb-girdle muscular dystrophy type 1D
  • Autosomal dominant medullary cystic kidney disease type 2
  • Autosomal dominant microcephaly
  • Autosomal dominant optic atrophy
  • Autosomal dominant optic atrophy plus syndrome
  • Autosomal dominant optic atrophy type 3
  • Autosomal dominant optic atrophy, classic form
  • Autosomal dominant optic atrophy, Kjer type
  • Autosomal dominant osteopetrosis type 1
  • Autosomal dominant otospondylomegaepiphyseal dysplasia
  • Autosomal dominant polycystic kidney disease
  • Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
  • Autosomal dominant proximal spinal muscular atrophy
  • Autosomal dominant pure HSP
  • Autosomal dominant Segawa syndrome
  • Autosomal dominant spastic ataxia
  • Autosomal dominant spastic paraplegia type 4
  • Autosomal dominant spinocerebellar ataxia
  • Autosomal ichthyosis syndrome with other associated signs
  • Autosomal recessive axonal Charcot-Marie-Tooth disease type 2
  • Autosomal recessive brachyolmia
  • Autosomal recessive cerebellar ataxia
  • Autosomal recessive cerebellar ataxia type 1
  • Autosomal recessive cerebellar ataxia type 2
  • Autosomal recessive cerebellar ataxia type 3 (ARCA3)
  • Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency
  • Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome
  • Autosomal recessive cerebral atrophy
  • Autosomal recessive complicated spastic paraplegia
  • Autosomal recessive complicated SPG
  • Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency
  • Autosomal recessive congenital cerebellar ataxia due to ionotropic glutamate receptor delta-2 subunit deficiency
  • Autosomal recessive congenital hypomyelinating neuropathy
  • Autosomal recessive cutis laxa type 2, Debré type
  • Autosomal recessive cutis laxa type 2A
  • Autosomal recessive deafness loci 111 (DFNB111)
  • Autosomal recessive degenerative and progressive cerebellar ataxia
  • Autosomal recessive extra-oral halitosis
  • Autosomal recessive infantile hypercalcemia
  • Autosomal recessive intellectual disability due to TRAPPC9 deficiency
  • Autosomal recessive lethal multiple pterygium syndrome
  • Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome
  • Autosomal recessive multiple pterygium syndrome
  • Autosomal recessive optic atrophy plus syndrome
  • Autosomal recessive posterior column ataxia and retinitis pigmentosa
  • Autosomal recessive primary microcephaly
  • Autosomal recessive pure spastic paraplegia
  • Autosomal recessive secondary erythrocytosis not associated with VHL gene
  • Autosomal recessive SLE
  • Autosomal recessive spastic ataxia
  • Autosomal recessive spastic ataxia of Charlevoix-Saguenay
  • Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome
  • Autosomal recessive spastic paraplegia - disc herniation
  • Autosomal recessive spastic paraplegia type 39
  • Autosomal recessive spinocerebellar ataxia type 10
  • Autosomal recessive spinocerebellar ataxia type 11
  • Autosomal recessive spinocerebellar ataxia type 12
  • Autosomal recessive spinocerebellar ataxia type 14
  • Autosomal recessive spinocerebellar ataxia type 15
  • Autosomal recessive spinocerebellar ataxia type 2
  • Autosomal recessive spinocerebellar ataxia type 21
  • Autosomal recessive spinocerebellar ataxia type 3
  • Autosomal recessive spinocerebellar ataxia type 6
  • Autosomal recessive spinocerebellar ataxia type 9
  • Autosomal recessive Stickler syndrome
  • Autosomal SLE
  • Autosomal systemic lupus erythematosus
  • AUTS2 syndrome
  • Avascular necrosis
  • AVED
  • AVN
  • AVSD
  • AxD type I
  • Axenfeld syndrome
  • Axenfeld-Rieger syndrome
  • Azorean disease of the nervous system

B

  • Babesiosis
  • Balint syndrome
  • BANDDOS
  • Bannayan-Riley-Ruvalcaba syndrome
  • BAP1-related tumor predisposition syndrome
  • Baraitser-Winter cerebrofrontofacial syndrome
  • Baraitser-Winter syndrome
  • Bardet-Biedl syndrome
  • Baroreflex Failure
  • Barrett esophagus
  • Bartonellosis due to Bartonella henselae infection
  • Bartonellosis due to Bartonella quintana infection
  • Basal cell nevus syndrome
  • Basilicata-Akhtar syndrome
  • BASM syndrome
  • Batten disease
  • BBS
  • B-cell chronic lymphoid leukemia
  • B-cell NHL
  • Becker muscular dystrophy
  • Beckwith-Wiedemann syndrome
  • Behavioral variant of frontotemporal dementia
  • Behçet disease
  • Bell palsy
  • Benign adult familial myoclonic epilepsy
  • Benign epithelial tumor of the salivary glands
  • Benign familial infantile epilepsy
  • Benign familial infantile seizures
  • Benign familial neonatal convulsions
  • Benign focal seizures of adolescence
  • Benign intracranial hypertension
  • Benign joint hypermobility syndrome
  • 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 type 1
  • Benign recurrent polyserositis
  • Benign rolandic epilepsy
  • Bent Spine Syndrome
  • Berger disease
  • Bernard-Soulier syndrome
  • Besnier-Boeck-Schaumann disease
  • Best disease
  • Beta Thalassemia
  • Beta-mannosidosis
  • BFLS
  • BIA ALCL
  • Bicervical bicornuate uterus
  • Bicornuate uterus
  • Bifunctional enzyme deficiency
  • Bilateral acute depigmentation of the iris
  • Bilateral frontal polymicrogyria
  • Bilateral perisylvian polymicrogyria
  • Bilateral polymicrogyria
  • Bilateral renal agenesis
  • Bilateral Vestibular Paresis
  • Bile acid synthesis defect with cholestasis and malabsorption
  • Bile duct cancer
  • Biliary atresia and associated disorders
  • Biliary atresia with splenic malformation syndrome
  • Biparietal Alzheimer disease
  • Birdshot chorioretinitis
  • Birdshot chorioretinopathy
  • Birt-Hogg-Dubé syndrome
  • BJHS
  • Bjornstad syndrome
  • Bladder pain syndrome
  • Blastogenesis defect
  • Blau syndrome
  • Blepharophimosis syndrome, Ohdo type
  • Blepharophimosis-intellectual disability syndrome
  • Bloom syndrome
  • Blue cone monochromacy
  • B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1); ETV6-RUNX1
  • Boeck sarcoid
  • Bohring-Opitz syndrome
  • Bone fragility-contractures-arterial rupture-deafness syndrome
  • Bone necrosis
  • Borjeson-Forssman-Lehmann syndrome
  • BOS syndrome
  • Boucher-Neuhäuser syndrome
  • Boylan-Dew syndrome
  • BPAN
  • BPD
  • BPES type 2
  • Brachial plexus neuritis
  • Brachmann-de Lange syndrome
  • Brachydactyly, Mohr-Wriedt type
  • Brachydactyly-nystagmus-cerebellar ataxia syndrome
  • Brain cortical dysplasia
  • Brain malformation
  • Brain stem asymmetry-superior cerebellar and basal ganglia dysplasia syndrome
  • Brain tumor ataxia
  • Branchial dysplasia-intellectual disability-inguinal hernia syndrome
  • BRIC
  • BRIC type 2
  • BRIC1
  • Brittle bone disease
  • Bromhidrosis
  • Bronchial NET
  • Bronchial neuroendocrine tumor
  • Bronchopulmonary dysplasia
  • Brooke-Spiegler syndrome
  • Brown-Sequard Syndrome
  • Bruck syndrome
  • Brugada syndrome
  • Bruton type agammaglobulinemia
  • BSEP deficiency
  • BSLE
  • BSyn
  • BTD deficiency
  • Bulbospinal muscular atrophy of adult
  • Bullous pemphigoid
  • Burning mouth syndrome
  • Buschke scleredema
  • BWS
  • Byler disease

C

  • C syndrome
  • C12ORF65-related combined oxidative phosphorylation defect
  • C3 deficiency
  • C3 glomerulonephritis
  • CACD
  • CACNA1A gene mutation
  • CAD
  • CADP
  • CAEBV syndrome
  • CAH
  • cAHA
  • CAIS
  • Calcinosis - Raynaud phenomenon - esophageal involvement - sclerodactyly - telangiectasia
  • Calcium pyrophosphate dihydrate crystal deposition disease
  • Calpain-3-related limb-girdle muscular dystrophy R1
  • Camptodactyly of fingers
  • Camurati-Engelmann disease
  • Canavan disease
  • Cancer diagnosed during pregnancy
  • Cancer of fallopian tubes
  • CANOMAD syndrome
  • CANVAS
  • CANVAS Syndrome
  • CAPOS syndrome
  • CAPS
  • CARASAL
  • Carcinoid syndrome
  • Carcinoid tumor
  • Carcinoma of the gallbladder
  • Cardiac anomalies - heterotaxy
  • Cardiac anomalies-heterotaxy syndrome
  • Cardiac-valvular Ehlers-Danlos syndrome
  • Cardiofaciocutaneous syndrome
  • Cardiogenic shock
  • Cardiomyopathy
  • Cardiomyopathy with myopathy due to COX deficiency
  • Cardiomyopathy-hypotonia-lactic acidosis syndrome
  • Cardiospondylocarpofacial syndrome
  • Carney-Stratakis syndrome
  • Carnitine deficiency secondary to medium-chain acyl-CoA dehydrogenase deficiency
  • Carnitine palmitoyl transferase 1A deficiency
  • Carotid-Cavernous Fistula
  • Carrier
  • Cataract-glaucoma
  • Cataract-glaucoma syndrome
  • Cathepsin A-related arteriopathy-strokes-leukoencephalopathy
  • Cat-scratch disease
  • Cauda equina syndrome
  • Cauda Equina Syndrome (CES)
  • Caudal dysgenesis syndrome
  • Caudal dysgensis syndrome
  • Caudal dysplasia
  • Caudal regression sequence
  • Caudal regression syndrome
  • Causalgia
  • CAVC - Fallot tetralogy
  • Cayman ataxia
  • CBL syndrome
  • CCFDN
  • CCHS
  • CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome
  • CCV
  • CDG syndrome type Ib
  • CDG-Ii
  • CDH
  • CDK13-related disorder
  • CDKL5-related epileptic encephalopathy
  • CdLS
  • CEA
  • CED
  • cEDS
  • Celiac artery compression syndrome
  • Celiac disease-epilepsy-cerebral calcification syndrome
  • Celiac sprue
  • Central core disease
  • Central diabetes insipidus
  • Central Pain Syndrome
  • Central precocious puberty in male
  • Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss
  • Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
  • Cerebellar ataxia with peripheral neuropathy
  • Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural deafness syndrome
  • Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
  • Cerebellar ataxia-ectodermal dysplasia syndrome
  • Cerebellar ataxia-hypogonadism syndrome
  • Cerebellar hypoplasia - tapetoretinal degeneration
  • Cerebellar malformation
  • Cerebellar syndrome - pigmentary maculopathy
  • Cerebellar syndrome-pigmentary maculopathy syndrome
  • Cerebral arteriovenous malformation
  • Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
  • Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy
  • Cerebral cavernoma
  • Cerebral cavernous malformations
  • Cerebral cortical dysplasia
  • Cerebral gigantism
  • Cerebral malformation with epilepsy
  • Cerebral visual impairment
  • Cervical leiomyosarcoma
  • Cervico-oculo-acoustic syndrome
  • CF
  • CFA
  • CFC syndrome
  • CFTDM
  • CGD
  • CHAMP1
  • Charcot-Marie-Tooth disease type 2P
  • Charcot-Marie-Tooth disease type 2T
  • Charcot-Marie-Tooth disease type 4
  • Charcot-Marie-Tooth disease type 6
  • Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy
  • Charcot-Marie-Tooth hereditary neuropathy
  • CHARGE syndrome
  • Charlevoix disease
  • CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome
  • Cherry-red spot-myoclonus syndrome
  • CHHS
  • Chiari malformation type 1
  • Chiari malformation type 2
  • Chiari malformation type I
  • Chilblain lupus
  • Childhood arterial ischemic stroke
  • Childhood ataxia with diffuse central nervous system hypomyelination
  • Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
  • Childhood-onset epilepsy syndrome
  • Childhood-onset hypophosphatasia
  • Childhood-onset phosphoethanolaminuria
  • Childhood-onset Rathbun disease
  • Childhood-onset Rathburn disease
  • Childhood-onset spasticity with hyperglycinemia
  • Childhood-onset Steinert myotonic dystrophy
  • Chitayat Syndrome
  • Chitayat-Meunier-Hodgkinson syndrome
  • CHM
  • Choanal atresia, bilateral
  • Choanal atresia, unilateral
  • Cholangiocarcinoma
  • Choledochal cyst
  • Chondrodysplasia punctata
  • Chondrodysplasia punctata, Toriello type
  • Chordoma
  • Choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome
  • Choroidal melanoma
  • Choroideremia
  • Chromophobe renal cell carcinoma
  • Chromosomal anomaly
  • Chromosome 15q duplication
  • Chromosome 18q Deletion Syndrome
  • Chromosome 3p26 deletion
  • Chromosome 4q Deletions
  • Chromosome 5p Duplications
  • Chromosome 9q Duplications
  • Chronic adrenocorticoid insufficiency
  • Chronic arachnoiditis
  • Chronic atrial and intestinal dysrhythmia syndrome
  • Chronic EBV infection syndrome
  • Chronic Epstein-Barr virus infection syndrome
  • Chronic fatigue immune dysfunction syndrome
  • Chronic granulomatous disease
  • Chronic inflammatory demyelinating polyneuropathy
  • Chronic intestinal failure
  • Chronic intestinal pseudoobstruction
  • Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids
  • Chronic myeloid leukemia
  • Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis
  • Chronic obstetric brachial plexus injury
  • Chronic primary adrenal insufficiency
  • Chronic recurrent isolated optic neuritis
  • Chronic recurrent multifocal osteomyelitis - congenital dyserythropoietic anemia - neutrophilic dermatosis
  • Chronic traumatic encephalopathy
  • CHUNG-JANSEN SYNDROME
  • CIC Gene Mutation
  • CIDP
  • CIPO
  • Clark-Baraitser syndrome
  • Clarkson disease
  • Class I G6PD deficiency
  • Classic 21-OHD CAH, salt wasting form
  • Classic Addison's disease
  • Classic BCKD deficiency
  • Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
  • Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form
  • Classic glucose transporter type 1 deficiency syndrome
  • Classic hairy cell leukemia
  • Classic Joubert syndrome
  • Classic juvenile NCL
  • Classic juvenile neuronal ceroid lipofuscinosis
  • Classic late infantile NCL
  • Classic lissencephaly
  • Classic maple syrup urine disease
  • Classic medulloblastoma
  • Classic MSUD
  • Classic PKU
  • Classic RTA
  • Classic stiff person syndrome
  • Classical EDS
  • Classical EDS due to COL1A1 p.(Arg312Cys)
  • Classical Ehlers-Danlos syndrome
  • Classical homocystinuria
  • Classical-like Ehlers-Danlos syndrome type 1
  • CLCN6-related childhood-onset progressive neurodegeneration-peripheral neuropathy syndrome
  • Cleft mitral valve
  • Cleft palate
  • CLIFAHDD syndrome
  • CLN1 disease
  • CLN2 disease
  • CLN3 disease
  • CLN4B disease
  • CLN5 disease
  • CLN6 disease
  • CLN7 disease
  • CLN8 disease
  • Cloacal exstrophy
  • Closed spina bifida
  • CLS
  • CLTC-Related Disorder
  • Cluster migraine
  • CM-AVM
  • CMD
  • CMS
  • CMT
  • CMT2
  • CMT2 due to VCP mutation
  • CMT2A2
  • CMT2C
  • CMT2K
  • CMT2L
  • CMT4J
  • CMT4K
  • CMV antenatal infection
  • CMV disease in patients with impaired cell mediated immunity deemed at risk
  • CNO/CRMO
  • CNTNAP2-related DEE
  • CNTNAP2-related developmental and epileptic encephalopathy
  • Coats disease
  • Cockayne syndrome
  • Cockayne syndrome type 1
  • Cockayne syndrome type 2
  • Cockayne syndrome type 3
  • Cockayne syndrome type I
  • Cockayne syndrome type II
  • Cockayne syndrome type III
  • CODAS syndrome
  • Coeliac disease
  • Coeliac sprue
  • Coffin-Lowry syndrome
  • Coffin-Siris syndrome
  • Cogan syndrome
  • COL4A1 or COL4A2-related cerebral angiopathy
  • COL4A1 or COL4A2-related cerebral small vessel disease
  • COL4A1 or COL4A2-related cerebral small vessel disease with ischemic tendancy
  • Cold AIHA
  • Coloboma - heart defects - atresia choanae - retardation of growth and development - genitourinary problems - ear abnormalities
  • Coloboma of iris
  • Coloboma of macula
  • Colonic NET
  • Combined cervical dystonia
  • Combined dystonia
  • Combined hyperactive dysfunction syndrome of the cranial nerves
  • Combined immunodeficiency-enteropathy spectrum
  • Combined malonic and methylmalonic acidemia
  • Combined oxidative phosphorylation deficiency-23 (COXPD23)
  • Common variable immunodeficiency
  • Complete atrioventricular septal defect-tetralogy of Fallot
  • Complete AVSD
  • Complete AVSD-tetralogy of Fallot
  • Complete or incomplete color blindness
  • Complete situs inversus
  • Complete situs inversus viscerum
  • Complex hereditary spastic paraplegia
  • Complex HSP
  • Complex regional pain syndrome
  • Complex regional pain syndrome type 1
  • Complex regional pain syndrome type 2
  • Complex SPG
  • Complicated HSP
  • Cone dystrophy
  • Cone rod dystrophy
  • Congenital adrenal hyperplasia
  • Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency
  • Congenital agenesis of the scrotum
  • Congenital amyoplasia
  • Congenital and infantile nephrotic syndrome
  • Congenital anomalies of kidney and urinary tract
  • Congenital anomaly of superior vena cava
  • Congenital aorta, aortic arch or pulmonary arteries anomaly
  • Congenital aortic valve stenosis
  • Congenital arteriovenous communication of the retina
  • Congenital atrioventricular block
  • Congenital bile acid synthesis defect
  • Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome
  • Congenital cataracts - facial dysmorphism - neuropathy
  • Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome
  • Congenital central alveolar hypoventilation syndrome
  • Congenital cervical spinal stenosis
  • Congenital cervical vertebral fusion
  • Congenital chloride diarrhea
  • Congenital communicating hydrocephalus
  • Congenital contractural arachnodactyly
  • Congenital deformities of fingers
  • Congenital diaphragmatic hernia
  • Congenital disorder of glycosylation
  • Congenital dyserythropoietic anemia type IV
  • Congenital erosive and vesicular dermatosis with reticulated supple scarring
  • Congenital esophageal stenosis
  • Congenital essential nyctalopia
  • Congenital F8 deficiency
  • Congenital facial diplegia
  • Congenital factor II deficiency
  • Congenital factor V deficiency
  • Congenital factor VII deficiency
  • Congenital fibrosis of extraocular muscles
  • Congenital fused cervical segments
  • Congenital genu recurvatum
  • Congenital glaucoma
  • Congenital granular cell tumor
  • Congenital hemangioma
  • Congenital hereditary stromal dystrophy
  • Congenital herpes simplex virus infection
  • Congenital Horner syndrome
  • Congenital hydrocephalus
  • Congenital hypogonadotropic hypogonadism
  • Congenital hypogonadotropic hypogonadism with anosmia
  • Congenital hypopituitarism
  • Congenital hypothyroidism
  • Congenital idiopathic nystagmus
  • Congenital insensitivity to pain with hyperhidrosis and gastrointestinal dysfunction
  • Congenital intestinal aganglionosis
  • Congenital lactase deficiency
  • Congenital laryngomalacia
  • Congenital limb malformation
  • Congenital lobar emphysema
  • Congenital long QT syndrome
  • Congenital major airway collapse
  • 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 nemaline myopathy
  • Congenital non-obstructive hydrocephalus
  • Congenital nonprogressive spinocerebellar ataxia
  • Congenital obstructive hydrocephalus
  • Congenital partial pulmonary venous return anomaly
  • Congenital pernicious anemia
  • Congenital primary lymphedema
  • Congenital primary megaureter, refluxing form
  • Congenital pseudoarthrosis of the fibula
  • Congenital pseudoarthrosis of the radius
  • Congenital ptosis
  • Congenital pulmonary valvar stenosis
  • Congenital pulmonary veins atresia or stenosis
  • Congenital retinal detachment
  • Congenital retinal telangiectasia
  • Congenital rocker-bottom foot
  • Congenital rubella syndrome
  • Congenital sialidosis type 2
  • Congenital stationary night blindness
  • Congenital stenosis of the cervical spine
  • Congenital subglottic stenosis
  • Congenital sucrase-isomaltase deficiency
  • Congenital sucrase-isomaltose malabsorption with starch and lactose intolerance
  • Congenital sucrose intolerance
  • Congenital syringomyelia
  • Congenital total pulmonary venous return anomaly
  • Congenital toxoplasmosis
  • Congenital tracheal stenosis
  • Congenital tracheomalacia
  • Congenital velopharyngeal incompetence
  • Congenital vertical talus
  • Congenital vertical talus, bilateral
  • Congenital vitamin K-dependent coagulation factors deficiency
  • Congenital vocal cord paralysis
  • Congenitally corrected transposition of the great arteries
  • Connective tissue disorder due to lysyl hydroxylase-3 deficiency
  • Conradi-Hünermann-Happle syndrome
  • Constitutional anemia due to iron metabolism disorder
  • Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder
  • Cooley anemia
  • CoQ10 deficiency
  • COQ8A Ataxia
  • Cori-Forbes disease
  • Cornelia de Lange syndrome
  • Cornelia de Lange-like syndrome
  • Corpus callosum agenesis (also, Agenesis of the Corpus Callosum, cACC. cAgCC, CCA, ACC)
  • Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome
  • Corpus callosum disorder
  • Corpus callosum dysgenesis
  • Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
  • Cortical dysplasia - focal epilepsy syndrome
  • Cortical visual impairment
  • Corticobasal syndrome
  • Corticotropin-dependent Cushing syndrome
  • Cowden disease
  • Cowden syndrome
  • CPS1 deficiency
  • Cramp Fasciculation Syndrome
  • Cranial dural arteriovenous fistula
  • Cranial dural arteriovenous malformations
  • Craniofrontonasal dysplasia
  • Cranio-osteoarthropathy
  • Craniopharyngioma
  • Craniosynostosis
  • Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome
  • CRB1
  • CRELD1
  • CREST syndrome
  • Cri du chat syndrome
  • CRION
  • Crouzon syndrome
  • Cryoglobulinemic vasculitis
  • Cryptogenic organizing pneumonia
  • CSCR
  • CSID
  • CSID with starch and lactose intolerance
  • CSID without starch intolerance
  • CSS
  • CSWS
  • CSWSS syndrome
  • CTCF-related neurodevelopmental disorder
  • CTEPH
  • CTNNB1 Syndrome
  • CTX
  • Culler-Jones syndrome
  • Currarino syndrome
  • Current pressure-sensitive neuropathy
  • Cushing disease
  • Cushing's syndrome
  • Cutaneous collagenous vasculopathy
  • Cutaneous hypersensitivity vasculitis
  • Cutaneous mastocytoma
  • Cutaneous mastocytosis
  • Cutaneous small vessel vasculitis
  • Cutis marmorata telangiectatica congenita
  • Cutis verticis gyrata - retinitis pigmentosa - neurosensory deafness
  • CVID
  • Cyclic neutropenia
  • Cyclical vomiting syndrome (CVS)
  • CYLD cutaneous syndrome
  • Cystathionine beta-synthase deficiency
  • Cystic fibrosis
  • Cystinosis
  • Cystoid macular dystrophy

D

  • D,L-2-hydroxyglutaric aciduria
  • Danon disease
  • DDX41-related hematologic malignancy predisposition syndrome
  • De la Chapelle syndrome
  • De Morsier syndrome
  • DEAF1 – Deformed epidermal autoregulatory factor – 1
  • DEE28 (Developmental and Epileptic Encephalopathy)
  • Dehydrodolichyl diphosphate synthase subunit
  • Del(1)(p36)
  • Del(11)(p13)
  • Del(13)(q12.3)
  • Del(15)(q13.3)
  • Del(16)(q24.3)
  • Del(5)(q14.3)
  • Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome
  • Deletion 11p13
  • Deletion 1p36
  • Deletion 1pter
  • Deletion 7q11.23
  • Dementia due to thiamine deficiency
  • Dementia with Lewy body
  • Dengue fever
  • Dent disease type 1
  • Dentinogenesis imperfecta
  • Denys-Drash syndrome
  • Dercum's disease
  • Dermatitis herpetiformis
  • Dermatomyositis
  • Desmin-related myofibrillar myopathy
  • Desmoid tumor
  • Desquamative interstitial pneumonia
  • DeToni-Debré-Fanconi syndrome
  • Developmental and speech delay due to SOX5 deficiency
  • Developmental anomaly of metabolic origin
  • Developmental delay with ASD and gait instability
  • Developmental delay with autism spectrum disorder and gait instability
  • Developmental verbal dyspraxia
  • Devic disease
  • Dextrocardia
  • Dextrocardia-bronchiectasis-sinusitis syndrome
  • DFSP
  • DHDDS
  • DHDDS - related disorder
  • dHMN2
  • dHMN7
  • DI
  • Diamond-Blackfan anemia
  • Diamond-Blackfan anemia syndrome
  • DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome
  • Diazoxide-sensitive diffuse hyperinsulinism
  • DIDMOAD syndrome
  • Diethylstilbestrol syndrome
  • Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome
  • Diffuse cutaneous systemic scleroderma
  • Diffuse fasciitis with eosinophilia
  • Diffuse Idiopathic Skeletal Hyperostosis (DISH)
  • DiGeorge sequence
  • DiGeorge syndrome
  • Digestive duplication cyst of the tongue
  • Dilated cardiomyopathy
  • Dimethylglycine dehydrogenase deficiency
  • Disaccharide intolerance
  • Disaccharide intolerance with starch and lactose intolerance
  • Discoid lupus erythematosus
  • Discrete fibromuscular subaortic stenosis
  • Disorder of amino acid and other organic acid metabolism
  • Disorder of bilirubin metabolism and excretion
  • Disorder of lipid metabolism
  • Disorder of lysosomal amino acid transport
  • Disorder of methionine cycle and sulfur amino acid metabolism
  • Disorder of other vitamins and cofactors metabolism and transport
  • Disorder of thiamine metabolism and transport
  • Disorder of urea cycle metabolism and ammonia detoxification
  • Disseminated superficial actinic porokeratosis
  • Distal 16p11.2 microdeletion syndrome
  • Distal arthrogryposis type 4
  • Distal arthrogryposis with ophthalmoplegia
  • Distal del(16)(p11.2)
  • Distal deletion 3p
  • Distal deletion 4q
  • Distal duplication 15q
  • Distal duplication 16q
  • Distal duplication 18q
  • Distal duplication 1p36
  • Distal duplication 5q
  • Distal monosomy 4p
  • Distal myopathy
  • Distal spinal muscular atrophy type 3
  • Distal titinopathy
  • Distal trisomy 22q
  • DKC
  • DLBCL
  • DLD deficiency
  • DLG4-associated synaptopathy
  • DLG4-related disorder
  • DLG4-related synaptopathy
  • DM
  • DM1
  • DMD
  • DNM1
  • DNM1 Gene Mutation
  • DOA
  • Dominant hypophosphatemia with nephrolithiasis or osteoporosis
  • Donnai-Barrow syndrome
  • Doose syndrome
  • Dopa-responsive dystonia
  • DORV
  • DORV with atrioventricular septal defect, pulmonary stenosis, heterotaxy
  • DORV with subaortic or doubly commited VSD with pulmonary stenosis
  • Double outlet right ventricle
  • Double tachycardia induced by catecholamines
  • Double uterus-hemivagina-renal agenesis syndrome
  • Double Y
  • Down syndrome
  • DPL
  • Drash syndrome
  • Dravet syndrome
  • DRESS syndrome
  • DRPLA
  • DRS
  • dRTA
  • Drug-induced lupus erythematosus
  • DSD
  • Du Pan syndrome
  • Duane anomaly - myopathy - scoliosis
  • Duane anomaly-myopathy-scoliosis syndrome
  • Duane retraction syndrome
  • Duane syndrome
  • Duchenne and Becker muscular dystrophy
  • Duchenne muscular dystrophy
  • Duodenal atresia
  • Dup(1)(q21.1)
  • Dup(16)(p13.11)
  • Dup(17)(q12)
  • Dup(5)(q35)
  • Duplication 4p
  • Duplication 5p
  • Durhing-Brocq disease
  • DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy
  • DYRK1A syndrome
  • Dysequilibrium syndrome
  • Dyskeratosis congenita
  • Dysplastic gangliocytoma of the cerebellum
  • Dyspraxia
  • Dystrophic epidermolysis bullosa

E

  • E410K Syndrome
  • Eagles Syndrome
  • Early infantile epileptic encephalopathy
  • Early infantile epileptic encephalopathy 5 (EIEE5)
  • Early infantile epileptic encephalopathy with suppression-bursts
  • Early myoclonic encephalopathy
  • Early-onset autosomal dominant Alzheimer disease
  • Early-onset cerebellar ataxia with retained tendon reflexes
  • Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
  • Early-onset generalized limb-onset dystonia
  • Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome
  • Early-onset non-syndromic cataract
  • Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
  • Early-onset sarcoidosis
  • E-beta-thalassemia
  • EBMD
  • EBS
  • Ebstein anomaly of the tricuspid valve
  • ECHS1
  • Ectodermal dysplasia
  • Ectodermal dysplasia syndrome
  • Ectodermal dysplasia with skin anomalies and intellectual disability
  • Ectopic Cushing syndrome
  • Ectrodactyly-ectodermal dysplasia without clefting syndrome
  • EDMD
  • EDMD2
  • EDS
  • EDS III
  • EDS IV
  • EDS VII
  • EDS with periventricular heterotopia
  • EDS, classic type
  • EDS, classic-like type
  • EFMR
  • EGE
  • EGID
  • EGPA
  • Ehlers-Danlos syndrome
  • Ehlers-Danlos syndrome due to tenascin-X deficiency
  • Ehlers-Danlos syndrome hypermobility type
  • Ehlers-Danlos syndrome type 3
  • Ehlers-Danlos syndrome type 4
  • Ehlers-Danlos syndrome type 6B
  • Ehlers-Danlos syndrome with kyphoscoliosis, myopathy, and hearing loss
  • Ehlers-Danlos syndrome, hypermobile type
  • Ehlers-Danlos syndrome, kyphoscoliotic and deafness type
  • Ehrlichiosis
  • EIEE
  • EIEE – 31
  • EIEE28 (Early Infantile Epileptic Encephalopathy 28)
  • Eisenmenger syndrome
  • Electromagnetic Frequency Sensitivity
  • Emanuel syndrome
  • EMARDD
  • EMC1-related disorders
  • Encephalitis
  • Encephalopathy with basal ganglia calcification
  • Encircling double aortic arch
  • Endocrinopathy with congenital hypogonadotropic hypogonadism as a major feature
  • Endoepithelial corneal dystrophy
  • Endometrial stromal sarcoma
  • Endometriosis outside pelvis
  • Endosalpingiosis
  • Endosteal hyperostosis, Worth type
  • Enoyl-CoA hydratase - short chain 1 deficiency
  • Enthesitis-related juvenile idiopathic arthritis
  • EOCA
  • EOCARR
  • EoE
  • Eosinophilic colitis
  • Eosinophilic fasciitis
  • Eosinophilic gastroenteritis
  • Ependymoma
  • Epidermal nevus syndrome
  • Epilepsy - dementia - amelogenesis imperfecta
  • Epilepsy and/or ataxia with myoclonus as a major feature
  • Epilepsy and/or ataxia with myoclonus as major feature
  • Epilepsy due to FCD
  • Epilepsy of infancy with migrating focal seizures
  • Epilepsy syndrome
  • Epilepsy-cortical blindness-intellectual disability-facial dysmorphism syndrome
  • Episodic ataxia - vertigo - tinnitus - myokymia
  • Episodic ataxia type 1
  • Episodic ataxia type 2
  • Episodic ataxia type 5
  • Episodic ataxia type 6
  • Episodic ataxia type 8
  • Episodic Ataxia Unknown type
  • Episodic ataxia with myokymia
  • Episodic ataxia with slurred speech
  • Episodic ataxia-vertigo-tinnitus-myokymia syndrome
  • Episodic spontaneous hypothermia
  • Epithelioid hemangioendothelioma
  • Epithelioid Leiomyosarcoma
  • Epithelioid sarcoma
  • Epstein syndrome
  • Erdheim-Chester disease
  • Erythema nodosum
  • Esophageal atresia
  • Esophageal atresia with or without trachea-esophageal fistula
  • Essential iris atrophy
  • Essential mixed cryoglobulinemia
  • Essential Palatal Tremor (Palatal Myoclonus)
  • Essential thrombocythemia
  • Essential thrombocytosis
  • ET
  • Ethylmalonic encephalopathy
  • Euthyroid Graves orbitopathy
  • Excessive fragmentary hypnic myoclonus
  • Exomphalos - macroglossia - gigantism
  • Expanded spectrum of hemifacial microsomia
  • Exposure to Medications Ataxia
  • EXT1/EXT2-CDG
  • Extrapelvic endometriosis
  • Extrasystoles - short stature - hyperpigmentation - microcephaly

F

  • FA
  • Fabry disease
  • Facial dysmorphism - intellectual disability - short stature - hearing loss
  • Facial dysmorphism-intellectual disability-short stature-hearing loss syndrome
  • Facial nerve palsy due to herpes zoster infection
  • Facial neuralgia
  • Facioscapulohumeral dystrophy
  • Factor IX deficiency
  • Factor VIII deficiency
  • Fahr's Syndrome
  • Familial acoustic neuroma
  • Familial aortic dissection
  • Familial articular hypermobility syndrome
  • Familial BAV
  • Familial bicuspid aortic valve
  • Familial brain cavernous angioma
  • Familial cerebral cavernoma
  • Familial cerebral cavernous malformation
  • Familial clubfoot due to 5q31 microdeletion
  • Familial clubfoot with or without associated lower limb anomalies
  • Familial cold urticaria
  • Familial congenital hypopituitarism
  • Familial congenital mirror movements
  • Familial cortical myoclonic tremor and epilepsy
  • Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
  • Familial dysautonomia
  • Familial dysplastic nevus syndrome
  • Familial gestational hyperthyroidism
  • Familial glucocorticoid deficiency
  • Familial HLH
  • Familial hyperaldosteronism
  • Familial hyperprolactinemia
  • Familial hypocalciuric hypercalcemia
  • Familial isolated arrhythmogenic ventricular cardiomyopathy, left dominant form
  • Familial isolated congenital asplenia
  • Familial isolated hyperparathyroidism
  • Familial joint laxity
  • Familial long QT syndrome
  • Familial lupus anticoagulant
  • Familial macular edema
  • Familial Mediterranean fever
  • Familial mitral valve prolapse
  • Familial MTC
  • Familial multiple lipomatosis
  • Familial non-immune hyperthyroidism
  • Familial or sporadic hemiplegic migraine
  • Familial pancreatic cancer
  • Familial papillary or follicular thyroid carcinoma
  • Familial paroxysmal ataxia
  • Familial paroxysmal polyserositis
  • Familial partial lipodystrophy
  • Familial patent arterial duct
  • Familial PKD
  • Familial polymorphous light eruption of American Indians
  • Familial primary hyperparathyroidism
  • Familial primary hypomagnesemia
  • Familial prostate cancer
  • Familial pure nonmedullary thyroid carcinoma
  • Familial restrictive cardiomyopathy
  • Familial Scheuermann juvenile kyphosis
  • Familial short QT syndrome
  • Familial sinus node dysfunction
  • Familial spastic paraplegia
  • Familial spinal osteochondrosis
  • Familial spontaneous pneumothorax
  • Familial symmetric lipomatosis
  • Familial syringomyelia
  • Familial systemic lupus erythematosus
  • Familial vestibular schwannoma
  • Familial vocal cord dysfunction
  • Familial VUR
  • Fanconi anemia
  • Fanconi syndrome - ichthyosis - dysmorphism
  • FAP
  • Farber lipogranulomatosis
  • Fatal infantile COX deficiency
  • FBX011 alteration
  • FCAS2
  • Feingold syndrome
  • Ferroportin disease
  • Ferroportin Disease
  • FG Syndrome
  • FH-II
  • FHONDA syndrome
  • Fibromyalgia
  • Fibronectin glomerulopathy
  • Fibrous dysplasia of bone
  • Fibular hemimelia
  • Fiessinger-Leroy-Reiter syndrome
  • FIHPT
  • Finkel disease
  • Fish Odor Syndrome
  • Fish-odor syndrome
  • Fitz-Hugh-Curtis Syndrome
  • Fitzsimmons-McLachlan-Gilbert syndrome
  • FLNA-related valvular dystrophy
  • Floating-Harbor syndrome
  • FMF
  • FMO3 deficiancy
  • Focal epilepsy-intellectual disability-cerebro-cerebellar malformation
  • Focal, segmental or multifocal dystonia
  • Follicular atrophoderma and basal cell carcinomas
  • Follicular lymphoma
  • Forestier's Diseases
  • FOSMN syndrome
  • Fourth branchial cleft cyst
  • Fox-Fordyce disease
  • FOXG1 syndrome
  • FOXP1 Syndrome
  • FOXP1-related intellectual disability syndrome
  • FOXP2-associated dysphasia
  • FPAH
  • FPLD
  • Fragile X syndrome
  • Franceschetti-Klein syndrome
  • Frasier syndrome
  • FRDA
  • Free sialic acid storage disease
  • Freeman-Sheldon syndrome variant
  • Friedreich ataxia
  • Friedreich-like ataxia
  • Frontal fibrosing alopecia
  • Frontotemporal dementia with motor neuron disease
  • Frontotemporal neurodegeneration with movement disorder
  • FSHD
  • FTD
  • Fuchs endothelial corneal dystrophy
  • Full neurofibromatosis type 2
  • Full neurofibromatosis type 3
  • Full NF2-related schwannomatosis
  • Functional Neurological Disorder (FND)
  • Fundus flavimaculatus
  • Fused renal ectopia
  • FXS
  • FXTAS syndrome

G

  • G6PD deficiency
  • GABRA 1 gene mutation
  • GAD ataxia
  • Gamborg-Nielsen syndrome
  • GAMT deficiency
  • Ganglioglioma
  • Ganglioneuroblastoma
  • Gastric duplication cyst of the tongue
  • Gastrinoma
  • Gastrointestinal polyposis - skin pigmentation - alopecia - fingernail changes
  • Gastrointestinal stromal tumor
  • Gastroparesis
  • Gastroschisis
  • Gaucher disease
  • Gaucher disease type 2
  • GBS
  • GCDHD
  • GDD
  • Geleophysic dwarfism
  • Geleophysic dysplasia
  • Gélineau disease
  • Generalized cervical and upper-limb-onset dystonia
  • Generalized isolated dystonia
  • Generalized pustular psoriasis
  • Genetic central nervous system malformation
  • Genetic congenital malformation of the eye with glaucoma as a major feature
  • Genetic DSD
  • Genetic HLH
  • Genetic human prion disease
  • Genetic hyperparathyroidism
  • Genetic hypoparathyroidism
  • Genetic ichthyosis
  • Genetic MCA
  • Genetic neurodegenerative disease
  • Genetic neuromuscular disease
  • Genetic peripheral neuropathy
  • Genetic renal tubular disease
  • Genetic respiratory or mediastinal malformation
  • Genetic syndrome with a CNS malformation as major feature
  • Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature
  • Genetic syndromic Pierre Robin syndrome
  • Genetic visceral malformation of the liver, biliary tract, pancreas or spleen
  • Geniculate Neuralgia
  • Genitopatellar syndrome
  • Gerstmann syndrome
  • Giant axonal neuropathy
  • Giant cell arteritis
  • Gilles de la Tourette syndrome
  • Gillespie syndrome
  • GIST
  • GIST-paraganglioma dyad
  • Glaucoma-sleep apnea syndrome
  • Gliadin/Gluten ataxia
  • Glioblastoma
  • Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome
  • Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome
  • Glossopharyngeal neuralgia
  • Glucose transport disorder
  • Glutaric acidemia type 1
  • Glutaric aciduria type 1
  • Gluten intolerance
  • Gluten-sensitive enteropathy
  • Glycine encephalopathy
  • Glycogen storage disease
  • Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia
  • Glycogen storage disease due to muscle phosphorylase kinase deficiency
  • Glycogen storage disease due to phosphoglycerate mutase deficiency
  • Glycogen storage disease type 5
  • Glycogen storage disease type 7
  • Glycogen storage disease type V
  • Glycogenosis due to muscle phosphorylase kinase deficiency
  • GNB1
  • GNB2
  • GNB5-related intellectual disability-cardiac arrhythmia syndrome
  • GNE myopathy
  • Goldenhar syndrome
  • Gordon hyperkalemia-hypertension syndrome
  • Gordon-Holmes syndrome
  • Gowers disease
  • GPA
  • GPP
  • Graham-Cox syndrome
  • Granular corneal dystrophy type I
  • Granuloma Annulare
  • Granulomatosis with polyangiitis
  • Granulomatous inflammatory arthritis, dermatitis, and uveitis
  • Granulomatous synovitis - uveitis
  • Gray platelet syndrome
  • Grover Disease
  • Growth Hormone Deficiency
  • GSD
  • GSD due to muscle phosphorylase kinase deficiency
  • GSD type 10
  • GSD type 3
  • GSD type 5
  • GSD type 7
  • GSD type 9D
  • GSD type IV
  • GSD type IXb
  • GSD type IXd
  • GSD type XV
  • GSD with hypertrophic cardiomyopathy
  • GSDIII
  • Guillain-Barré syndrome
  • Guillain-Barré syndrome, acute inflammatory demyelinating polyradiculoneuropathic form
  • Gyrate atrophy of choroid and retina

H

  • HAE
  • HAE 1
  • Hajdu-Cheney syndrome
  • Halitosis
  • Hanot syndrome
  • Hantavirus pulmonary syndrome
  • Hardikar syndrome
  • Harlequin syndrome
  • Hashimoto encephalitis
  • Hashimoto hypothyroidism
  • Hashimoto thyroiditis
  • HbS - beta-thalassemia
  • HCN1 Disorder
  • HDL1
  • HDL4
  • HDLS
  • Heart-hand syndrome type 1
  • Heat shock protein B8 myopathy
  • hEDS
  • HELLP syndrome
  • Hemifacial microsomia - radial defects
  • Hemifacial spasm
  • Hemihyperplasia-multiple lipomatosis syndrome
  • Hemimegalencephaly
  • Hemochromatosis type 1
  • Hemoglobin E-beta-thalassemia syndrome
  • Hemoglobin Lepore-beta-thalassemia syndrome
  • Hemolytic uremic syndrome
  • Hemophagocytic lymphohistiocytosis
  • Hemophilia
  • Hemophilia A
  • Hemophilia B
  • Hemophilia C
  • Hemosiderosis of the central nervous system
  • Henoch-Schönlein purpura
  • Hepatic adenomatosis
  • Hepatoblastoma
  • Hepatopulmonary Syndrome
  • Hereditary alpha tryptasemia (HaTS)
  • Hereditary amyloidosis
  • Hereditary ataxia
  • Hereditary ATTR amyloidosis
  • Hereditary brain cavernous angioma
  • Hereditary breast carcinoma
  • Hereditary ceruloplasmin deficiency
  • Hereditary chronic pancreatitis
  • Hereditary clubfoot due to 5q31 microdeletion
  • Hereditary coproporphyria
  • Hereditary diffuse leukoencephalopathy with spheroids
  • Hereditary episodic ataxia
  • Hereditary folate malabsorption
  • Hereditary fructose intolerance
  • Hereditary gingival fibromatosis
  • Hereditary hemorrhagic telangiectasia
  • Hereditary hyperphosphatasia
  • Hereditary inclusion body myopathy type 2
  • Hereditary inclusion body myopathy type 4
  • Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome
  • Hereditary motor and sensory neuropathy type 4
  • Hereditary motor and sensory neuropathy with deafness, intellectual disability and absent sensory large myelinated fibers
  • Hereditary multiple osteochondromas
  • Hereditary myopathy with early respiratory failure
  • Hereditary nephrotic syndrome
  • Hereditary Neuralgic Amyotrophy
  • Hereditary neuropathy with liability to pressure palsies
  • Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
  • Hereditary pheochromocytoma-paraganglioma
  • Hereditary progressive arthroophthalmopathy
  • Hereditary renal amyloidosis due to apolipoprotein A-II variant
  • Hereditary sensory and autonomic neuropathy
  • Hereditary sensory and autonomic neuropathy type 3
  • Hereditary spastic paraparesis
  • Hereditary spastic paraplegia
  • Hereditary spherocytosis
  • Hereditary thermosensitive neuropathy
  • Hereditary thrombophilia due to congenital protein C deficiency
  • Hereditary vascular retinopathy - Raynaud phenomenon - migraine
  • Hereditary von Willebrand disease
  • Herpes simplex meningo-encephalitis
  • HES
  • Heterotaxy syndrome
  • HFE-related hemochromatosis
  • HHT
  • HHV-6 Meningitis
  • HIBCH deficiency
  • HIBM2
  • HIDS
  • High scapula
  • HIGM1
  • HIGM2
  • Hirschsprung disease
  • Histoplasmosis
  • HIVEP2-related intellectual disability
  • HLHS
  • HMERF
  • HMG-CoA lyase deficiency
  • HNPP
  • HOD
  • Hodgkin lymphoma
  • HoFH
  • Holoprosencephaly-radial heart renal anomalies syndrome
  • Holt-Oram syndrome
  • Homocystinuria due to cystathionine beta-synthase deficiency
  • Homocystinuria due to methylene tetrahydrofolate reductase deficiency
  • Horror Fusionis
  • Horton headache
  • HPDL-related Leigh-like encephalopathy
  • HPP
  • HSAN1E
  • HSCR
  • HSN1E
  • HSP
  • HSP with MAG-Associated Ataxia
  • HSPB8 associated myofibrillar myopathy
  • HSPB8 associated rimmed vacuolar myopathy
  • HSPB8 Myopathy
  • HSPB8-related inclusion body myopathy
  • HSV encephalitis
  • HT-EDS
  • HTRA1-related autosomal dominant cerebral small vessel disease
  • Hunter syndrome
  • Huntington chorea
  • Huntington disease
  • Huntington disease-like 4
  • Hurler disease
  • Hurler syndrome
  • Hydrocephalus with stenosis of the aqueduct of Sylvius
  • Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome
  • Hydrocephaly-cerebellar agenesis syndrome
  • Hydromyelia
  • Hydrops fetalis
  • Hyperacusis (Hyperacousis)
  • Hyperandrogenism due to cortisone reductase deficiency
  • Hyperbilirubinemia type 1
  • Hyperekplexia
  • Hyperekplexia
  • Hypereosinophilic syndrome
  • Hyper-IgD syndrome
  • Hyperinsulinemic hypoglycaemia
  • Hyperinsulinemic hypoglycemia, diazoxide-sensitive diffuse form
  • Hyperinsulinism-hyperammonemia syndrome
  • Hypermobile Ehlers-Danlos syndrome
  • Hyperphenylalaninemic embryopathy
  • Hypersomnia Associated with a Psychiatric Condition
  • Hypersomnia Due to a Medical Condition
  • Hypersomnolence Disorder
  • Hyperthermia of anesthesia
  • Hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome
  • Hypertrophic olivary degeneration
  • Hypertryptophanemia
  • Hypnic headache
  • Hypnic jerking
  • Hypobetalipoproteinemia
  • Hypocomplementemic urticarial vasculitis
  • Hypohidrotic ectodermal dysplasia
  • Hypokalemic periodic paralysis
  • Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome
  • Hypomyelination - congenital cataract
  • Hypomyelination neuropathy-arthrogryposis syndrome
  • Hypomyelination with atrophy of basal ganglia and cerebellum
  • Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome
  • Hypoparathyroidism - Addison's disease - mucocutaneous candidiasis
  • Hypoparathyroidism - Addison's disease - mucocutaneous candidosis
  • Hypophosphatasia
  • Hypophosphatemic rickets
  • Hypopigmentation - immunodeficiency with or without neurologic impairment
  • Hypopituitarism due to empty sella turcica syndrome
  • Hypoplasminogenemia
  • Hypoplastic left heart syndrome
  • Hypothyroidism due to TSH receptor mutations
  • Hypotonia - failure to thrive - microcephaly
  • Hypotonia Ataxia, and Delayed Development Syndrome (HADDS)
  • Hypotonia-speech impairment-severe cognitive delay syndrome
  • Hypoxic-ischemic encephalopathy

I

  • IAHSP
  • Iatrogenic botulism
  • IBM
  • IBMPFD
  • IBSN
  • IC/BPS
  • I-cell disease
  • Ichthyosis
  • Ichthyosis - hepatosplenomegaly - cerebellar degeneration
  • Ichthyosis follicularis-alopecia-photophobia syndrome
  • Ichthyosis-male hypogonadism syndrome
  • Idiopathic achalasia
  • Idiopathic achalasia of esophagus
  • Idiopathic acute transverse myelitis
  • Idiopathic aplastic anemia
  • Idiopathic avascular necrosis
  • Idiopathic AVN
  • Idiopathic basal ganglia calcification
  • Idiopathic bilateral vestibulopathy
  • Idiopathic bronchiectasis
  • Idiopathic CD4 lymphocytopenia
  • Idiopathic chronic eosinophilic pneumonia
  • Idiopathic eosinophilic pneumonia
  • Idiopathic excessive sleepiness
  • Idiopathic gastroparesis
  • Idiopathic hypercalciuria
  • Idiopathic hypereosinophilic syndrome
  • Idiopathic hypersomnia
  • Idiopathic hypertrophic pachymeningitis
  • Idiopathic immunoglobulin deficiency
  • Idiopathic infection disseminated by cytomegalovirus
  • Idiopathic inflammatory myopathy
  • Idiopathic inflammatory myositis
  • Idiopathic intracranial hypertension
  • Idiopathic late-onset cerebellar ataxia
  • Idiopathic Moyamoya disease
  • Idiopathic Orbital Myositis
  • Idiopathic orthostatic hypotension
  • Idiopathic panuveitis
  • Idiopathic pulmonary fibrosis
  • Idiopathic relapsing pericarditis
  • Idiopathic SCAD
  • Idiopathic subglottic stenosis (iSGS)
  • Idiopathic syringomyelia
  • IgA deficiency
  • IgA nephropathy
  • IgA vasculitis
  • IgG subclass deficiency with IgA subclass deficiency
  • IgG4-related disease
  • IgG4-related mesenteritis
  • IgG4-related sclerosing disease
  • IgG4-related systemic disease
  • IIH
  • ILD
  • IMBS
  • Immune deficiency with skin involvement
  • Immune dysregulation disease with immunodeficiency
  • Immune dysregulation with inflammatory bowel disease
  • Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome
  • Immune thrombocytopenic purpura
  • Immune-mediated necrotizing myopathy
  • Immunodeficiency due to C1, C4, or C2 component complement deficiency
  • Immunodeficiency due to MASP-2 deficiency
  • Immunodeficiency due to selective anti-polysaccharide antibody deficiency
  • Immunodeficiency-associated lymphoproliferative disease
  • Immunologic neutropenia
  • IMNM
  • INAD1
  • Inclusion body myopathy type 2
  • Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
  • Inclusion body myositis
  • Inclusion myopathy
  • Incontinentia pigmenti
  • Index finger anomaly - Pierre Robin syndrome
  • Indolent B-cell NHL
  • Indolent systemic mastocytosis
  • Infantile cellular interstitial pneumonitis
  • Infantile hypophosphatasia
  • Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome
  • Infantile nephropathic cystinosis
  • Infantile neuroaxonal dystrophy
  • Infantile neuronal ceroid lipofuscinosis
  • Infantile Rathburn disease
  • Infantile Refsum disease
  • Infantile spasms
  • Infantile spasms syndrome
  • Infantile subacute necrotizing encephalopathy
  • Infantile-onset ascending hereditary spastic paralysis
  • Infantile-onset spinocerebellar ataxia
  • Infection or post infection ataxia
  • Infectious disease with peripheral neuropathy
  • Infectious, fungal or parasitic myopathy
  • Inflammatory breast cancer
  • Inflammatory myofibroblastic tumor
  • Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations
  • Inherited ichthyosis
  • Insensitivity to pain - anhidrosis
  • Insulin-dependent diabetes mellitus
  • Insulinoma
  • Intellectual disability - hypotonia - spasticity - sleep disorder
  • intellectual disability - sparse hair - brachydactyly
  • Intellectual disability-alacrima-achalasia syndrome
  • Intellectual disability-cataracts-kyphosis syndrome
  • Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome
  • Intellectual disability-epilepsy-endocrine disorders syndrome
  • Intellectual disability-hyperkinetic movement-truncal ataxia syndrome
  • Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome
  • Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
  • Intellectual disability-short stature-hypertelorism syndrome
  • Intellectual disability-sparse hair-brachydactyly syndrome
  • Intermediate cystinosis
  • Intermediate maple syrup urine disease
  • Intermediate MSUD
  • Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder
  • Intermediate severe Salla disease
  • Intermediate uveitis
  • Intermittent maple syrup urine disease
  • Intermittent MSUD
  • Internal carotid absence
  • Interstitial cystitis
  • Interstitial cystitis/painful bladder syndrome
  • Interstitial lung disease
  • Interventricular septum aneurysm
  • Intestinal lymphangiectasia
  • Intestinal Malrotation
  • Intestinal Metabolic Bromhidrosis Syndrome
  • Intracranial arteriovenous malformation
  • Intrahepatic cholestasis of pregnancy
  • Invasive Candidiasis
  • Inverse Klippel-Trenaunay syndrome
  • Inverse Marcus-Gunn phenomenon
  • Inverse RDEB
  • Inverted duplicated chromosome 15 syndrome
  • Inverted smile - neurogenic bladder
  • IPAH
  • IRAK4 deficiency
  • IRD
  • IRF2BPL-related disorders
  • IRF2BPL-related regressive neurodevelopmental disorder-dystonia-seizures syndrome
  • Iridocyclitis
  • Iron overload disease
  • Iron-refractory iron deficiency anemia
  • Isaacs syndrome
  • Isolated aniridia
  • Isolated anterior cervical hypertrichosis
  • Isolated apertura pyriformis stenosis
  • Isolated atresia of bile ducts
  • Isolated bilateral hemispheric cerebellar hypoplasia
  • Isolated biliary atresia
  • Isolated cerebellar vermis hypoplasia
  • Isolated childhood apraxia of speech
  • Isolated complex I deficiency
  • Isolated congenital controlateral synkinesia
  • Isolated congenital mirror movements
  • Isolated congenital radial head dislocation
  • Isolated corpus callosum agenesis
  • Isolated cytochrome C oxidase deficiency
  • Isolated Dandy-Walker malformation
  • Isolated Dandy-Walker malformation with hydrocephalus
  • Isolated Dandy-Walker malformation without hydrocephalus
  • Isolated encephalocele
  • Isolated focal cortical dysplasia type IIa
  • Isolated hemihyperplasia
  • Isolated hypogammaglobulinemia
  • Isolated IgG subclass deficiency
  • Isolated Klippel-Feil syndrome
  • Isolated micronodular adrenocortical disease
  • Isolated micropenis
  • Isolated mitochondrial respiratory chain complex I deficiency
  • Isolated mitochondrial respiratory chain complex II deficiency
  • Isolated mitochondrial respiratory chain complex III deficiency
  • Isolated mitochondrial respiratory chain complex V deficiency
  • Isolated optic neuritis
  • Isolated Pierre Robin sequence
  • Isolated Pierre Robin syndrome
  • Isolated polycystic liver disease
  • Isolated postlingual genetic deafness
  • Isolated thyroid-stimulating hormone deficiency
  • Isolated tracheoesophageal fistula
  • ITP
  • IU
  • Ivemark syndrome

J

  • Jacobsen syndrome
  • Jaw-winking syndrome
  • Jeavons syndrome
  • Jeffries-Lakhani Neurodevelopmental Syndrome
  • JHD
  • JME
  • Johanson-Blizzard syndrome
  • Joint instability syndrome
  • JORRP-Juvenile Onset Recurrent Respiratory Papillomatosis
  • Joubert syndrome
  • Joubert syndrome with retinopathy
  • JPS
  • JRRP-Juvenile Recurrent Respiratory Papillomatosis
  • Juvenile acquired myasthenia
  • Juvenile autoimmune myasthenia gravis
  • Juvenile chronic arthritis
  • Juvenile CRMO
  • Juvenile cystinosis
  • Juvenile glaucoma
  • Juvenile idiopathic arthritis
  • Juvenile myoclonic epilepsy
  • Juvenile nephropathic cystinosis
  • Juvenile neuronal ceroid lipofuscinosis
  • Juvenile osteoporosis
  • Juvenile polyarthritis without rheumatoid factor
  • Juvenile polyposis syndrome
  • Juvenile psoriatic arthritis
  • Juvenile rheumatoid arthritis
  • Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome

K

  • Kabuki make-up syndrome
  • Kabuki syndrome
  • Kallmann syndrome
  • Kaplan-Plauchu-Fitch syndrome
  • Karsch-Neugebauer syndrome
  • KAT6A Syndrome
  • KAT6B-related disorder
  • Kawasaki disease
  • KBG syndrome
  • KCNA1
  • KCNB1 gene
  • KCNC1
  • KCNMA1-Channelopathy
  • Kennedy disease
  • Keratocystic odontogenic tumor
  • Kienbock disease
  • KIF4A Associated Syndrome
  • Kindler epidermolysis bullosa
  • Kleefstra syndrome
  • Kleine-Levin syndrome
  • Klinefelter syndrome
  • Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome
  • Klippel-Feil malformation
  • Klippel-Feil sequence
  • Klippel-Feil Syndrome
  • Knobloch syndrome
  • Kommerell diverticulum
  • Krabbe disease, early-onset
  • Kufs disease
  • Kyphoscoliotic Ehlers-Danlos syndrome
  • Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency
  • Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome

L

  • L1 syndrome
  • L1CAM syndrome
  • Laing early-onset distal myopathy
  • LAM
  • LAMA2-related muscular dystrophy
  • Lambert-Eaton myasthenic syndrome
  • Lambert-Eaton myasthenic syndrome (LEMS)
  • Laminopathy
  • Laminopathy with peripheral neuropathy
  • Lance-Adams Syndrome
  • Langerhans cell histiocytosis
  • LAPS Syndrome
  • Laryngeal papillomatosis
  • laryngotracheal stenosis, arthropahty, prognathism, and short stature
  • Larynx anomaly
  • Late infantile neuronal ceroid lipofuscinosis
  • Late-onset isolated ACTH deficiency
  • Late-onset primary lymphedema without systemic or visceral involvement
  • Lateral meningocele syndrome
  • LCA
  • LCC
  • LCMN
  • Leber congenital amaurosis
  • Ledderhose disease
  • Left renal vein entrapment syndrome
  • Left ventricular hypertrabeculation
  • Left ventricular noncompaction
  • Legg-Calvé-Perthes disease
  • Legionnaires' disease
  • Legius syndrome
  • Leigh disease
  • Leigh disease with leukodystrophy
  • Leigh disease with myopathy
  • Leigh syndrome
  • Leigh syndrome with cardiomyopathy
  • Leigh syndrome with leukodystrophy
  • Leigh syndrome, French-Canadian type
  • Leiomyosarcoma
  • Leiomyosarcoma of small intestine
  • Leiomyosarcoma of the cervix uteri
  • Leiomyosarcoma of the corpus uteri
  • Leishmaniasis
  • LEMS
  • Lennox-Gastaut syndrome
  • Lesch-Nyhan syndrome
  • Lethal multiple pterygium syndrome
  • Lethal neurodegenerative disorder due to copper transport defect
  • Leukodystrophy
  • Leukoencephalopahty with thalamus and brainstem involvement and high lactate elevation (LTBL)
  • Leukoencephalopathy - ataxia - hypodontia - hypomyelination
  • Leukoencephalopathy with mild cerebellar ataxia and white matter edema
  • Leukoencephalopathy with vanishing white matter
  • Levo-transposition of the great arteries
  • LGMD
  • LGMD type 1F
  • Lhermitte-Duclos disease
  • LHON
  • Liang-Wang syndrome
  • Lichen planopilaris
  • Lichen Sclerosus
  • Liddle syndrome
  • Li-Fraumeni syndrome
  • Light-chain amyloidosis
  • Limbal stem cell deficiency
  • Limb-girdle muscular dystrophy
  • Limb-girdle muscular dystrophy with Paget disease of bone
  • Limbic encephalitis with leucine-rich glioma-inactivated 1 antibodies
  • Limited cutaneous systemic scleroderma
  • Limited systemic sclerosis
  • Linear IgA dermatosis
  • Linear nevus sebaceus syndrome
  • LINKED genetic syndrome
  • Lipoic acid synthetase deficiency
  • Lipomucopolysaccharidosis
  • Lipomyelomeningocele
  • Lip-pit syndrome
  • Lissencephaly
  • Lissencephaly type 1
  • Lissencephaly with cerebellar hypoplasia
  • Listeriosis
  • Livedoid vasculopathy
  • LKS
  • LMNA-related congenital muscular dystrophy
  • LMPS
  • Localized pustular psoriasis
  • Loeys-Dietz syndrome
  • Logopenic primary progressive aphasia
  • Loin Pain Hematuria Syndrome
  • Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
  • long qt type 6
  • LORD
  • Louis-Bar syndrome
  • Lowe disease
  • Lowe oculo-cerebro-renal dystrophy
  • Lowe oculo-cerebro-renal syndrome
  • Lowe syndrome
  • Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy with contractures
  • Lown-Ganong-Levine syndrome
  • LPA
  • LPI
  • LPP
  • Lucey-Driscoll syndrome
  • Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome
  • LVNC
  • Lyme borreliosis
  • Lyme disease
  • Lymphangioma
  • Lymphocytic cholangitis
  • Lymphoma
  • Lymphomatoid papulosis
  • Lymphoplasmacytic lymphoma
  • Lynch syndrome
  • LyP

M

  • Machado disease
  • Machado-Joseph disease
  • Machado-Joseph disease type 1
  • Machado-Joseph disease type 2
  • Machado-Joseph disease type 3
  • Macrocephaly-intellectual disability-autism syndrome
  • Macular Pucker
  • MADD
  • Maffucci syndrome
  • Majeed syndrome
  • Mal de Debarquement Syndrome
  • Mal de Meleda
  • Malan overgrowth syndrome
  • Malan Syndrome
  • Malan Syndrome
  • Male infertility with spermatogenesis disorder
  • Male infertility with spermatogenesis disorder due to single gene mutation
  • Malformation of the neurenteric canal, spinal cord and column
  • Maligant granulosa cell tumor of the ovary
  • Malignant hyperthermia of anesthesia
  • Malignant melanoma of the mucosa
  • MALS
  • Manganese intoxication
  • Mantle cell lymphoma
  • Map-dot-fingerprint dystrophy
  • Maple syrup urine disease
  • Marden-Walker syndrome
  • Marfan and Marfan-related disorder
  • Marfan syndrome
  • Marfanoid habitus-inguinal hernia-advanced bone age syndrome
  • Marinesco Sjogren Syndrome(Marinesco-Sjogren syndrome)
  • Marinesco-Sjögren syndrome
  • Marshall syndrome
  • Marshall-Smith syndrome
  • Mast cell activation syndrome (MCAS)
  • Mast cell disease
  • Mastocytosis
  • MAT
  • Maternal uniparental disomy of chromosome 22
  • Maternally-inherited diabetes and deafness
  • Maternally-inherited Leigh disease
  • Maternally-inherited mitochondrial dystonia
  • Maternally-inherited spastic paraplegia
  • Maternally-inherited SPG
  • Maturity-onset diabetes of the young
  • Mayer-Rokitansky-Küster-Hauser syndrome
  • Mayer-Rokitansky-Küster-Hauser syndrome type 2
  • MC4R deficiency
  • MCAD deficiency
  • MCADD
  • McArdle disease
  • McArdle Disease (GSD 5)
  • McCune-Albright syndrome
  • MCDK
  • MCL
  • MCPH
  • MCT8 deficiency
  • MCTD
  • MDR3 deficiency
  • MECOM - MDS1 and EVI1 complex locus
  • MECP2 duplication syndrome
  • MED-12 related disorders
  • MED13L Syndrome
  • MED13L-related intellectual disability syndrome
  • Median arcuate ligament syndrome
  • Medium chain acyl-CoA dehydrogenase deficiency
  • Medullary sponge kidney
  • Megacystis-microcolon-intestinal hypoperistalsis syndrome
  • Megalencephaly-capillary malformation-polymicrogyria syndrome
  • Meige dystonia
  • Melanoma-pancreatic cancer syndrome
  • MELAS
  • Melioidosis
  • Melorheostosis
  • Melorheostosis with osteopoikilosis
  • MEN
  • MEN 1
  • MEN1
  • MEN2A
  • Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
  • Mendelian susceptibility to mycobacterial diseases due to partial signal transducer and activator of transcription 1 deficiency
  • Meningioma
  • Meningocele
  • Meningococcal meningitis
  • Menstrual-related hypersomnia (MRH)
  • MEPAN syndrome
  • Merkel cell carcinoma
  • Metabolic disease due to other fatty acid oxidation disorder
  • Metabolic disease involving other neurotransmitter deficiency
  • Metabolic disease with intestinal involvement
  • Metabolic myopathy
  • Metachromatic leukodystrophy
  • Metachromatic leukodystrophy, adult form
  • Metaphyseal chondrodysplasia, Jansen type
  • Metaphyseal chondrodysplasia, Schmid type
  • Metaplastic carcinoma of the breast
  • Metatropic dysplasia
  • Methicillin-Resistant Staphylococcus Aureus (MRSA) Infection
  • MFM
  • MFS
  • Microcephaly - intellectual disability - tracheoesophageal fistula
  • Microcephaly-cervical spine fusion anomalies syndrome
  • Microcephaly-seizures-intellectual disability-heart disease syndrome
  • Microcystic lymphatic malformation
  • Microcytic anemia with liver iron overload
  • Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome
  • Microphthalmia-anophthalmia-coloboma
  • Microscopic polyangiitis
  • Microtia
  • Midaortic syndrome
  • Mid-aortic syndrome
  • Middle ear myoclonus
  • Mikulicz disease
  • Mild hemophilia A
  • Mild peroxisome biogenesis disorder-Zellweger spectrum disorder
  • Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis
  • Miller Fisher syndrome
  • Miller-Dieker syndrome
  • MILS
  • Minkowski-Chauffard disease
  • MIRAGE syndrome
  • MIRAS
  • Mirror hand
  • Miscellaneous movement disorder due to genetic neurodegenerative disease
  • Miscellaneous movement disorder due to neurodegenerative disease
  • Misophonia
  • MITF-related melanoma and renal cell carcinoma predisposition syndrome
  • Mitochondrial aconitase deficiency
  • Mitochondrial disease
  • Mitochondrial disease with epilepsy
  • Mitochondrial disease with peripheral neuropathy
  • Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes
  • Mitochondrial DNA depletion syndrome
  • Mitochondrial DNA depletion syndrome, encephalomyopathic form
  • Mitochondrial DNA-associated Leigh syndrome
  • Mitochondrial encephalo-cardio-myopathy due to isolated mitochondrial respiratory chain complex V deficiency
  • Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes
  • Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
  • Mitochondrial myopathy
  • Mitochondrial myopathy with reversible complex IV deficiency
  • Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes
  • Mitochondrial oxidative phosphorylation disorder
  • Mixed connective tissue disease
  • Mixed cryoglobulinemia type II
  • MJD
  • ML III alpha/beta
  • MLD
  • MME-related autosomal dominant CMT2
  • MMN
  • MMND
  • MNGIE
  • Mobile Cecum
  • Moderate and severe traumatic brain injury
  • Moebius syndrome
  • Moersch-Woltman syndrome
  • MOG Antibody Disease (MOGAD)
  • Mollaret's Meningitis
  • MOMO syndrome
  • Monoclonal gammopathy of undetermined significance
  • Monoclonal mast cell activation syndrome
  • Monomelic amyotrophy
  • Monosomy 10q22.3q23.3
  • Monosomy 11q22.2q22.3
  • Monosomy 18p
  • Monosomy 19p13.12
  • Monosomy 1p36
  • Monosomy 1pter
  • Monosomy 22q13.3
  • Monosomy 5p
  • Monosomy 5q14.3
  • Monostotic fibrous dysplasia
  • MOPD type II
  • Morbus Scheuermann's
  • Morgellons
  • Morning glory disc anomaly
  • Morquio disease type A
  • Morvan's fibrillary chorea
  • Mosaic trisomy 8
  • Motor congenital nystagmus
  • Motor neuron disease
  • Motor stereotypies
  • Mowat-Wilson syndrome
  • Moyamoya angiopathy
  • Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome
  • Moyamoya disease
  • Moyamoya disease - short stature - facial dysmorphism - hypergonadotropic hypogonadism
  • MPD
  • MPS1
  • MPS1H
  • MPSIII
  • MRKH syndrome
  • MRKH syndrome type 2
  • MSA
  • MSA, cerebellar type
  • MSA, parkinsonian type
  • MSA-c
  • MSA-p
  • MSBD syndrome
  • MSK
  • MSUD
  • MT-ATP6-related mitochondrial spastic paraplegia
  • MT-ATP6-related mitochondrial spastic paraplegia (Maternally-inherited SPG)
  • MTC
  • mtDNA depletion syndrome
  • mtDNA-associated Leigh syndrome
  • MTHFR deficiency
  • MTORapathy
  • Mucinous adenocarcinoma of the appendix
  • Muckle-Wells syndrome
  • Mucocutaneous lymph node syndrome
  • Mucolipidosis
  • Mucolipidosis II alpha/beta
  • Mucolipidosis II/III intermediate
  • Mucolipidosis III
  • Mucolipidosis III alpha/beta
  • Mucolipidosis type 2
  • Mucolipidosis type 3
  • Mucolipidosis type 3 alpha/beta
  • Mucolipidosis type 3 alpha/beta
  • Mucolipidosis type 3 alpha/beta
  • Mucolipidosis type 3 gamma
  • Mucolipidosis type 4
  • Mucolipidosis type II
  • Mucolipidosis type II alpha/beta
  • Mucolipidosis type II/III
  • Mucolipidosis type III
  • Mucolipidosis type III alpha/beta
  • Mucolipidosis type IV
  • Mucopolysaccharidosis type 3
  • Mucopolysaccharidosis type 3A
  • Mucopolysaccharidosis type 6
  • Mucopolysaccharidosis type IH
  • Mucopolysaccharidosis type IIA
  • Mucous membrane pemphigoid
  • Muenke syndrome
  • Multicystic dysplastic kidney
  • Multicystic renal dysplasia
  • Multifocal atrial tachycardia
  • Multifocal motor neuropathy
  • Multifocal motor neuropathy with conduction block
  • Multifocal pattern dystrophy simulating Stargardt disease
  • Multiple cartilaginous exostoses
  • Multiple congenital anomalies - hypotonia - seizures syndrome
  • Multiple cutaneous and uterine leiomyomas
  • Multiple endocrine neoplasia type 1
  • Multiple endocrine neoplasia type 2
  • Multiple endocrine neoplasia type 2A
  • Multiple endocrine neoplasia type 2B
  • Multiple endocrine neoplasia type 4
  • Multiple epiphyseal dysplasia
  • Multiple epiphyseal dysplasia due to collagen 9 anomaly
  • Multiple myeloma
  • Multiple sclerosis variant
  • Multiple system atrophy
  • Multiple system atrophy, cerebellar type
  • Multiple system atrophy, parkinsonian type
  • Multisystem atrophy
  • Multisystemic smooth muscle dysfunction syndrome
  • Muscle filaminopathy
  • Muscle-eye-brain disease
  • Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome
  • Muscular dystrophy
  • Muscular dystrophy - white matter spongiosis
  • Mutations in Gene DMN1
  • Myalgic encephalomyelitis
  • Myalgic Encephalomyelitis
  • Myasthenia gravis
  • Mycoplasma encephalitis
  • Mycosis fungoides and variants
  • Myelocerebellar disorder
  • Myelocystocele
  • Myelodysplastic syndrome
  • Myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2
  • Myeloproliferative neoplasm
  • Myhre syndrome
  • Myhre-Riley-Smith syndrome
  • MYO5B-related progressive familial intrahepatic cholestasis
  • Myoadenylate deaminase deficiency
  • Myoclonus-dystonia syndrome
  • Myoclonus-dystonia type 15
  • Myofibrillar myopathy
  • Myofibrillar myopathy with early respiratory failure
  • Myofibrillar myopathy-titinopathy
  • Myophosphorylase deficiency
  • Myopic macular degeneration
  • Myotonia congenita
  • Myotonic dystrophy
  • Myotonic dystrophy type 2
  • Myotubular myopathy
  • MYT1L Syndrome
  • MYT1L-related developmental delay-intellectual disability-obesity syndrome

N

  • NAFLD
  • NAION
  • NAIT
  • Narcolepsy
  • Narcolepsy type 1
  • Narcolepsy type 2
  • Narcolepsy with or without cataplexy
  • Narcolepsy without cataplexy
  • Narcolepsy-cataplexy
  • NARP syndrome
  • Necrotizing enterocolitis
  • NEDCPMD
  • Neonatal adrenoleukodystrophy
  • Neonatal antiphospholipid syndrome
  • Neonatal hypoxic and ischemic brain injury
  • Neonatal NKH
  • Nephrogenic diabetes insipidus
  • Nephronophthisis with retinal dystrophy
  • Nephropathic infantile cystinosis
  • Nephropathy secondary to a storage or other metabolic disease
  • Neurenteric cyst
  • Neuroacanthocytosis
  • Neuroblastoma
  • Neurodegeneration with ataxia and late-onset optic atrophy (NDAXOA)
  • Neurodegeneration with brain iron accumulation
  • Neurodegenerative disease with chorea
  • Neurodegenerative disease with dementia
  • Neuroendocrine tumor with other location
  • Neurofibromatosis 1-like syndrome
  • Neurofibromatosis type 1
  • Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion
  • Neurofibromatosis type 1 microdeletion syndrome
  • Neurogenic muscle weakness - ataxia - retinitis pigmentosa
  • Neurogenic muscle weakness-ataxia-retinitis pigmentosa syndrome
  • Neurogenic scapuloperoneal amyotrophy, New England type
  • Neurogenic thoracic outlet syndrome
  • Neurological channelopathy of the central nervous system due to a genetic calcium channel defect
  • Neurological channelopathy of the central nervous system due to a genetic chloride channel defect
  • Neuromyelitis optica spectrum disorder
  • Neuronal ceroid lipofuscinosis
  • Neuro-ocular DAGLA-related syndrome (NODRS)
  • Neuropathy - ataxia - retinitis pigmentosa
  • Neuropathy with hearing impairment
  • Neuropathy-ataxia-retinitis pigmentosa syndrome
  • Neurosurgery
  • Neurotrophic keratitis
  • Neutral lipid storage disease with myopathy without ichthyosis
  • New daily-persistent headache
  • NF1
  • NF2
  • NFPA
  • NGLY1-CDDG
  • Nicolaides-Baraitser syndrome
  • Niemann-Pick disease type A
  • Niemann-Pick disease type C, juvenile neurologic onset
  • Nigro-spino-dentatal degeneration with nuclear ophthalmoplegia
  • Niikawa-Kuroki syndrome
  • NKH
  • NMOSD
  • NMOSD with anti-MOG antibodies
  • Nocturnal paroxysmal dystonia
  • NON RARE IN EUROPE: Adenocarcinoma of the lung
  • NON RARE IN EUROPE: Adolescent idiopathic scoliosis
  • NON RARE IN EUROPE: Adrenal incidentaloma
  • NON RARE IN EUROPE: Ankylosing spondylitis
  • NON RARE IN EUROPE: Asperger syndrome
  • NON RARE IN EUROPE: Autism
  • NON RARE IN EUROPE: Autosomal dominant ichthyosis vulgaris
  • NON RARE IN EUROPE: Bicuspid aortic valve
  • NON RARE IN EUROPE: Celiac disease
  • NON RARE IN EUROPE: Central precocious puberty
  • NON RARE IN EUROPE: Chronic fatigue syndrome
  • NON RARE IN EUROPE: Cluster headache
  • NON RARE IN EUROPE: Coronary artery disease-hyperlipidemia-hypertension-diabetes-osteoporosis syndrome
  • NON RARE IN EUROPE: Cortisol-producing adrenal tumor
  • NON RARE IN EUROPE: Crohn disease
  • NON RARE IN EUROPE: Eosinophilic esophagitis
  • NON RARE IN EUROPE: Essential strabismus
  • NON RARE IN EUROPE: Familial Dupuytren contracture
  • NON RARE IN EUROPE: Familial hypobetalipoproteinemia
  • NON RARE IN EUROPE: Fibromuscular dysplasia of arteries
  • NON RARE IN EUROPE: Fibromyalgia
  • NON RARE IN EUROPE: Gender dysphoria
  • NON RARE IN EUROPE: Gilbert syndrome
  • NON RARE IN EUROPE: Hashimoto thyroiditis
  • NON RARE IN EUROPE: Hereditary essential tremor
  • NON RARE IN EUROPE: Heterozygous familial hypercholesterolemia
  • NON RARE IN EUROPE: Hidradenitis suppurativa
  • NON RARE IN EUROPE: Horseshoe kidney
  • NON RARE IN EUROPE: Hypodontia
  • NON RARE IN EUROPE: Idiopathic infantile nystagmus
  • NON RARE IN EUROPE: Juvenile idiopathic scoliosis
  • NON RARE IN EUROPE: Klinefelter syndrome
  • NON RARE IN EUROPE: Lipedema
  • NON RARE IN EUROPE: Menière disease
  • NON RARE IN EUROPE: Non rare thrombophilia
  • NON RARE IN EUROPE: Non-alcoholic fatty liver disease
  • NON RARE IN EUROPE: Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
  • NON RARE IN EUROPE: Oral erosive lichen
  • NON RARE IN EUROPE: Paget disease of bone
  • NON RARE IN EUROPE: Polycystic ovary syndrome
  • NON RARE IN EUROPE: Psoriatic arthritis
  • NON RARE IN EUROPE: Recurrent acute pancreatitis
  • NON RARE IN EUROPE: Rheumatoid arthritis
  • NON RARE IN EUROPE: Scheuermann's disease
  • NON RARE IN EUROPE: Schizophrenia
  • NON RARE IN EUROPE: Secondary Sjögren syndrome
  • NON RARE IN EUROPE: Sjögren syndrome
  • NON RARE IN EUROPE: Tourette syndrome
  • NON RARE IN EUROPE: Trimethylaminuria
  • NON RARE IN EUROPE: Ulcerative colitis
  • NON RARE IN EUROPE: Ventricular septal defect
  • NON RARE IN EUROPE: Wernicke encephalopathy
  • NON RARE IN EUROPE: Wolff-Parkinson-White syndrome
  • Non-24-hour sleep-wake syndrome
  • Non-functioning paraganglioma
  • Non-functioning pituitary adenoma
  • Non-hereditary degenerative ataxia
  • Non-Hodgkin lymphoma
  • Non-infectious anterior uveitis
  • Non-infectious posterior uveitis
  • Non-insulinoma pancreatogenous hypoglycemia syndrome
  • Non-ketotic hyperglycinemia
  • Nonketotic Hyperglycinemia
  • Non-neurogenic neurogenic bladder
  • Non-progressive cerebellar ataxia - intellectual disability
  • Non-specific autoimmune CA with characteristic antibodies
  • Non-specific autoimmune cerebellar ataxia without characteristic antibodies
  • Non-syndromic bicoronal craniosynostosis
  • Non-syndromic bicoronal synostosis
  • Non-syndromic cloacal malformation
  • Non-syndromic genetic hearing loss
  • Non-syndromic metopic craniosynostosis
  • Non-syndromic polydactyly
  • Noonan syndrome
  • Noonan syndrome with multiple lentigines
  • Norrie disease
  • NPH
  • NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance
  • NSTI
  • NTHL1 Tumor Syndrome
  • NTOS
  • NUS1

O

  • OBSOLETE: Acquired alimentary behavior disorder of infancy
  • OBSOLETE: Acute cutaneous lupus erythematosus
  • OBSOLETE: Adult pulmonary Langerhans cell histiocytosis
  • OBSOLETE: Alpha-1-antichymotrypsin deficiency
  • OBSOLETE: Aniridia
  • OBSOLETE: Anomaly of chromosome 16
  • OBSOLETE: Anomaly of chromosome 7
  • OBSOLETE: Arnold-Chiari malformation type II
  • OBSOLETE: Autoimmune neurological channelopathy due to a p/q-type voltage gated calcium channel defect
  • OBSOLETE: Autoimmune neurological channelopathy due to an acetylcholine receptor subunits defect
  • OBSOLETE: Autosomal dominant optic atrophy and late-onset deafness
  • OBSOLETE: Autosomal dominant spinocerebellar ataxia due to a channelopathy
  • OBSOLETE: Autosomal dominant spinocerebellar ataxia due to a point mutation
  • OBSOLETE: Autosomal dominant spinocerebellar ataxia due to a polyglutamine anomaly
  • OBSOLETE: Autosomal dominant spinocerebellar ataxia due to repeat expansions that do not encode polyglutamine
  • OBSOLETE: Autosomal recessive optic atrophy, OPA9 type
  • OBSOLETE: Benign essential blepharospasm
  • OBSOLETE: Brachydactyly
  • OBSOLETE: Cervical dystonia
  • OBSOLETE: Cervical spina bifida cystica
  • OBSOLETE: Channelopathy due to a voltage-gated potassium channel defect
  • OBSOLETE: Channelopathy due to a voltage-gated sodium channel defect
  • OBSOLETE: Choroideremia-hypopituitarism syndrome
  • OBSOLETE: Chronic muscular fatigue and/or chronic muscle pain
  • OBSOLETE: Chronic pain requiring intraspinal analgesia
  • OBSOLETE: Collagenous colitis
  • OBSOLETE: Congenital hydronephrosis
  • OBSOLETE: Congenital liver hemangioma
  • OBSOLETE: Congenital patella dislocation, unilateral
  • OBSOLETE: Corticobasal degeneration
  • OBSOLETE: Disease predisposing to age-related macular degeneration
  • OBSOLETE: Early-onset schizophrenia
  • OBSOLETE: Ehlers-Danlos syndrome type 1
  • OBSOLETE: Ehlers-Danlos syndrome type 2
  • OBSOLETE: Erythromelalgia
  • OBSOLETE: Fatal infantile hypertrophic cardiomyopathy due to mitochondrial complex I deficiency
  • OBSOLETE: Genetic vitreous-retinal disease
  • OBSOLETE: Hereditary motor and sensory neuropathy
  • OBSOLETE: Herpes simplex virus keratitis
  • OBSOLETE: Idiopathic hypersomnia with long sleep time
  • OBSOLETE: Idiopathic hypersomnia without long sleep time
  • OBSOLETE: Isolated facial myokymia
  • OBSOLETE: Isolated optic nerve hypoplasia/aplasia
  • OBSOLETE: Isolated plagiocephaly
  • OBSOLETE: Keratoconus
  • OBSOLETE: Lumbosacral spina bifida cystica
  • OBSOLETE: Lymphedema
  • OBSOLETE: Lymphocytic colitis
  • OBSOLETE: Lymphomatous meningitis
  • OBSOLETE: Metabolic disease with pigmentary retinitis
  • OBSOLETE: Microscopic colitis
  • OBSOLETE: Mitochondrial disease with eye involvement
  • OBSOLETE: Multiple fibroadenoma of the breast
  • OBSOLETE: Neurological channelopathy
  • OBSOLETE: Not NOTCH3-related small vessel disease of the brain
  • OBSOLETE: Other complex syndrome of primary immunodeficiency
  • OBSOLETE: Otopalatodigital syndrome
  • OBSOLETE: Peters anomaly-cataract syndrome
  • OBSOLETE: Pitt-Hopkins-like syndrome
  • OBSOLETE: Primary parathyroid hyperplasia
  • OBSOLETE: Rare acquired eye disease
  • OBSOLETE: Rare disease in physical medicine and rehabilitation
  • OBSOLETE: Rare disease with corpus callosum agenesis associated with peripheral neuropathy
  • OBSOLETE: Solitary median maxillary central incisor syndrome
  • OBSOLETE: Spastic diplegia, infantile type
  • OBSOLETE: Spinocerebellar ataxia with oculomotor anomaly
  • OBSOLETE: Sporadic achalasia
  • OBSOLETE: Sucking/swallowing disorder associated to a chromosomal anomaly
  • OBSOLETE: Sucking/swallowing disorder associated with a neuromuscular disease
  • OBSOLETE: Syndrome associated with Pierre Robin syndrome
  • OBSOLETE: Syndromic sucking/swallowing disorder with unidentifyed syndrome
  • OBSOLETE: Systemic disease with cataract
  • OBSOLETE: TACI-related selective deficiency of IgA
  • OBSOLETE: Unclassified autosomal dominant spinocerebellar ataxia
  • OBSOLETE: Unclassified overlapping connective tissue disease
  • OBSOLETE: Unknown leukodystrophy
  • OBSOLETE: Vitiligo-associated autoimmune disease
  • OBSOLETE: Xeroderma pigmentosum complementation group C
  • OCA
  • OCA2
  • OCA4
  • Occult spina bifida
  • OCRL
  • OCT deficiency
  • Ocular albinism
  • Ocular cystinosis
  • Ocular motor apraxia, Cogan type
  • Oculocerebrorenal syndrome of Lowe
  • Oculomotor apraxia, Cogan type
  • Oculopharyngeal muscular dystrophy
  • ODDD syndrome
  • Odontohypophosphatasia
  • Ogden syndrome
  • OGIN Syndrome
  • Ohtahara syndrome
  • OI type 4
  • Oligodendroglioma
  • Oligodontia
  • Olivopontocerebellar atrophy - deafness
  • Ollier disease
  • Omphalocele
  • OMS
  • OODD
  • OPDM
  • Open spina bifida
  • Open spinal dysraphism with a myelomeningocele
  • OPHN1 syndrome
  • Ophthalmoacromelic syndrome
  • Ophthalmoplegia - hypotonia - ataxia - hypoacusis - athetosis
  • Opitz-Frias syndrome
  • OPMD
  • Opsoclonus-myoclonus syndrome
  • Opsoclonus-myoclonus-ataxia syndrome
  • Optic atrophy type 1
  • Optic atrophy-peripheral neuropathy-developmental delay syndrome
  • Optic Nerve Atrophy
  • Optic neuropathy
  • Optic pathway glioma
  • Ornithine transcarbamylase deficiency
  • Oroya fever
  • Orthopaedic surgery
  • Osseous venous malformation
  • Osteochondritis dissecans
  • Osteochondritis dissecans and short stature
  • Osteochondritis of the capital femoral epiphysis
  • Osteogenesis imperfecta
  • Osteogenesis imperfecta type 1
  • Osteonecrosis
  • Osteopenia - myopia - hearing loss - intellectual disability - facial dysmorphism
  • Osteopetrosis
  • Osteopoikilosis-short stature-intellectual disability syndrome
  • OTC deficiency
  • Other
  • Other acquired skin disease
  • Other genetic dermis disorder
  • Other immunodeficiency syndromes due to defects in innate immunity
  • Other metabolic disease
  • Other metabolic disease with epilepsy
  • Other syndrome with a central nervous system malformation as a major feature
  • Other syndrome with a central nervous system malformation as major feature
  • Ovarian agenesis
  • Ovarian mucinous adenocarcinoma
  • Overlap syndromes of autoimmune liver diseases

P

  • Pachydermoperiostosis
  • Pachygyria-intellectual disability-epilepsy syndrome
  • PACS1-related syndrome
  • PADMAL
  • PAF
  • Pagetoid neuroskeletal syndrome
  • Paget's disease of the nipple
  • PAH associated with connective tissue disease
  • Painful bladder syndrome
  • Painful legs and moving toes syndrome
  • Painful ophthalmoplegia
  • PAIS
  • Pallister-Hall syndrome
  • Pancreatic colipase deficiency
  • Pancreatic neuroendocrine tumor
  • PANDAS
  • Panhypopituitarism
  • Papillary or follicular thyroid carcinoma
  • Papilloma of choroid plexus
  • Papular epidermal nevi with skyline basal cell layers syndrome
  • Paramyotonia congenita
  • Paraneoplastic cerebellar ataxia
  • Paraneoplastic cerebellar degeneration
  • Paraneoplastic opsoclonus-myoclonus-ataxia syndrome
  • Parapsoriasis
  • Paris-Trousseau thrombocytopenia
  • Parkinsonism with alveolar hypoventilation and mental depression
  • Paroxysmal choreoathetosis
  • Paroxysmal exertion-induced dyskinesia
  • Paroxysmal hemicrania
  • Paroxysmal kinesigenic choreathetosis
  • Paroxysmal kinesigenic dyskinesia
  • Paroxysmal non-kinesigenic dyskinesia
  • Parry-Romberg syndrome
  • Pars Planitis Uveitis
  • Partial 21q monosomy
  • Partial Agenesis of the Corpus Callosum (also, pAgCC , P-ACC)
  • Partial autosomal duplication/triplication
  • Partial chromosome Y deletion
  • Partial deletion of chromosome 1
  • Partial deletion of chromosome 12q
  • Partial deletion of chromosome 14q
  • Partial deletion of chromosome 18
  • Partial deletion of chromosome 18p
  • Partial deletion of chromosome 18q
  • Partial deletion of chromosome 19
  • Partial deletion of chromosome 1q
  • Partial deletion of chromosome 22q
  • Partial deletion of chromosome 4p
  • Partial deletion of chromosome 6p
  • Partial deletion of chromosome 9
  • Partial duplication of chromosome 18q
  • Partial duplication of chromosome 22q
  • Partial duplication of chromosome 3p
  • Partial duplication of chromosome 8p
  • Partial duplication of the short arm of chromosome 4
  • Partial duplication/triplication of chromosome 12p
  • Partial mevalonate kinase deficiency
  • Partial monosomy of chromosome 14q
  • Partial monosomy of chromosome 16p
  • Partial monosomy of chromosome 18
  • Partial monosomy of chromosome 18q
  • Partial monosomy of chromosome 3p
  • Partial monosomy of the short arm of chromosome 4
  • Partial situs inversus
  • Partial trisomy of chromosome 1q
  • Partial trisomy of chromosome 8p
  • PASH syndrome
  • Patent arterial duct - bicuspid aortic valve - hand anomalies
  • Patent ductus arteriosus anomalies
  • Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome
  • Patent foramen ovale
  • Patulous Eustachian tube (PET)
  • PBC
  • PBC/PSC and AIH overlap syndrome
  • PBCRA
  • PBD-ZSD
  • PCD
  • PCDH19-Related Epilepsy
  • PCH
  • PCH6
  • PCH9
  • PCLD
  • PCOS
  • PCT
  • PDC
  • PDH
  • PDH Deficiency
  • PDHA
  • PDHAD
  • PDHC
  • Pediatric AIS
  • Pediatric autoimmune neuropsychiatric disorders associated with Streptococcus infections
  • Pediatric-onset glaucoma of genetic origin
  • Pediatric-onset Graves disease
  • pEDS
  • Pelizaeus-Merzbacher disease
  • Pelvis-shoulder dysplasia
  • Pemphigus foliaceus
  • Pemphigus vulgaris
  • Pendred syndrome
  • Penoscrotal transposition
  • Pentalogy of Cantrell
  • Perinatal lethal hypophosphatasia
  • Periodic fever syndrome
  • Periodic fever-aphtous stomatitis-pharyngitis-adenopathy syndrome
  • Periodic fever-infantile enterocolitis-autoinflammatory syndrome
  • Periodic limb movement disorder
  • Periodic vestibulocerebellar ataxia
  • Peripapillary staphyloma
  • Peripartum cardiomyopathy
  • Peripheral motor neuropathy - dysautonomia
  • Peripheral nerve hyperexcitability
  • Periventricular nodular heterotopia
  • Peroxisome biogenesis disorder
  • Peroxisome biogenesis disorder-Zellweger spectrum disorder
  • Perry syndrome
  • Persistent hyperinsulinemic hypoglycemia of infancy
  • Peters anomaly
  • Peters congenital glaucoma
  • Pettigrew syndrome (PGS)
  • Peutz-Jeghers syndrome
  • PFAPA syndrome
  • PFFD
  • PFIC
  • PFIC1
  • PFIC2
  • PFIC3
  • PFIC4
  • PHACE syndrome
  • PHARC syndrome
  • Phelan-McDermid syndrome
  • Phenylketonuria
  • Pheochromocytoma-paraganglioma
  • PHIP-Related disorder
  • PHO
  • Phocomelia
  • Phospholamban p.Arg14del Cardiomyopathy
  • Photosensitive epilepsy
  • Phyllode tumor
  • Pierpont syndrome
  • Pierre Robin sequence associated with a chromosomal anomaly
  • Pierre Robin syndrome associated with a chromosomal anomaly
  • Pierre Robin syndrome associated with collagen disease
  • Pigmented paravenous retinochoroidal atrophy
  • Pili multigemini
  • Pilocytic astrocytoma
  • Pineocytoma
  • Pitt-Hopkins syndrome
  • Pituitary adenoma
  • Pituitary corticotroph micro-adenoma
  • Pituitary deficiency due to empty sella turcica syndrome
  • Pituitary dermoid and epidermoid cysts
  • Pituitary stalk interruption syndrome
  • Pituitary tumor
  • PKAN, classic form
  • PKU
  • Plantar fibromatosis
  • Plasma cell myeloma
  • PLEC-Related Disorder
  • Pleural mesothelioma
  • PLS
  • PM
  • PMM2-CDG
  • PNH
  • PNS
  • POGZ mutation
  • Poland anomaly
  • Poland sequence
  • Poland syndrome
  • POLG1
  • POLR3A related neurologic phenotype
  • POLR3-Related Leukodystrophy
  • Polyarthritis with rheumatoid factor
  • Polyarticular juvenile idiopathic arthritis
  • Polycystic ovarian syndrome
  • Polycythemia
  • Polycythemia vera
  • Polymicrogyria
  • Polymyalgia rheumatica
  • Polymyositis
  • Polyneuropathy - endocrinopathy - plasma cell dyscrasia
  • Polyneuropathy-endocrinopathy-plasma cell dyscrasia syndrome
  • Polyostotic fibrous dysplasia
  • Pompe disease
  • Pompe disease, late-onset
  • Pontine tegmental cap dysplasia
  • Pontocerebellar hypoplasia type 1
  • Popliteal pterygium syndrome
  • Porokeratosis
  • Porphyria
  • Porphyria cutanea tarda
  • Posterior column ataxia-retinitis pigmentosa syndrome
  • Posterior cortical atrophy
  • Posterior fossa malformation
  • Posterior hypospadias
  • Post-Head Injury Ataxia
  • Postpartum cardiomyopathy
  • Postpolio sequelae
  • Postpolio syndrome
  • Postpoliomyelitis syndrome
  • Post-Stroke Ataxia
  • Post-traumatic pituitary deficiency
  • Postural Orthostatic Tachycardia Syndrome
  • Postural orthostatic tachycardia syndrome due to NET deficiency
  • POT
  • Potocki-Lupski syndrome
  • Potocki-Shaffer syndrome
  • POTS due to NET deficiency
  • PPAOS
  • PPK-CA, Stevanovic type
  • Prader-Labhart-Willi syndrome
  • Prader-Willi syndrome
  • Precursor B-cell acute lymphoblastic leukemia
  • Precursor T-cell acute lymphocytic leukemia/lymphoma
  • Preeclampsia
  • Premature degenerative osteoarthropathy of the hip
  • Premature ovarian failure
  • Prenatal benign hypophosphatasia
  • Pressure-induced localized lipoatrophy
  • Primary Addison's disease
  • Primary adrenal insufficiency
  • Primary anetoderma
  • Primary AVN
  • Primary basilar invagination
  • Primary bilateral macronodular adrenal hyperplasia
  • Primary biliary cholangitis
  • Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome
  • Primary biliary cirrhosis
  • Primary biliary cirrhosis and systemic scleroderma
  • Primary ciliary dyskinesia, Kartagener type
  • Primary congenital glaucoma
  • Primary congenital hypothyroidism
  • Primary cutaneous amyloidosis
  • Primary cutaneous T-cell lymphoma
  • Primary dystonia, DYT21 type
  • Primary erythermalgia
  • Primary erythromelalgia
  • Primary Fanconi renotubular syndrome
  • Primary hyperoxaluria
  • Primary hypersomnia
  • Primary hypertrophic osteoarthropathy
  • Primary hypogammaglobulinemia
  • Primary immunodeficiency
  • Primary lateral sclerosis
  • Primary localized cutaneous nodular amyloidosis
  • Primary lymphedema
  • Primary mediastinal large B-cell lymphoma
  • Primary myoclonus
  • Primary orthostatic hypotension
  • Primary orthostatic tremor
  • Primary Progressive Multiple Sclerosis
  • Primary pulmonary arterial hypertension
  • Primary sclerosing cholangitis
  • Primary Sjögren syndrome
  • Primary syringomyelia
  • Primary tethered cord syndrome
  • Primary tethered spinal cord syndrome
  • Primrose syndrome
  • Prinzmetal Angina
  • PRL-secreting pituitary adenoma
  • Progressive cerebello-cerebral atrophy
  • Progressive cutaneous systemic scleroderma
  • Progressive diaphyseal dysplasia
  • Progressive epilepsy-intellectual disability syndrome, Finnish type
  • Progressive familial intrahepatic cholestasis type 1
  • Progressive familial intrahepatic cholestasis type 2
  • Progressive familial intrahepatic cholestasis type 4
  • Progressive multifocal leukoencephalopathy
  • Progressive muscular atrophy
  • Progressive muscular dystrophy
  • Progressive myoclonic epilepsy
  • Progressive myoclonic epilepsy type 4
  • Progressive myoclonic epilepsy type 6
  • Progressive myoclonus epilepsy
  • Progressive non-fluent aphasia
  • Progressive supranuclear palsy
  • Progressive supranuclear palsy-parkinsonism syndrome
  • Prolactinoma
  • Properdin deficiency
  • Propriospinal Myoclonus
  • PROS
  • Protein defect of cystin transport
  • Protein S acquired deficiency
  • Prothrombin deficiency
  • Proximal 16p11.2 microduplication syndrome
  • Proximal femoral focal deficiency
  • Proximal focal femoral deficiency
  • Proximal myopathy with extrapyramidal signs
  • Proximal renal tubular acidosis with ocular abnormalities and intellectual disability
  • Proximal spinal muscular atrophy type 3
  • Prune belly syndrome
  • Prurigo nodularis
  • PSC
  • Pseudo-Best disease
  • Pseudocholinesterase deficiency
  • Pseudoexfoliation syndrome
  • Pseudo-Hurler polydystrophy
  • Pseudohypoparathyroidism type 1B
  • Pseudotumor cerebri
  • PSP
  • PSS
  • Psychogenic movement disorders
  • PTEN hamartoma tumor syndrome
  • PTLD
  • Ptosis
  • Ptosis - strabismus - rectus abdominis diastasis
  • Ptosis-syndactyly-learning difficulties syndrome
  • Pudendal nerve entrapment syndrome
  • Pudendal neuralgia
  • Pulmonary arterial hypertension
  • Pulmonary branch stenosis
  • Pulmonary hypertension owing to lung disease and/or hypoxia
  • Pulmonary hypoplasia - agonadism - dextrocardia - diaphragmatic hernia syndrome
  • Pulmonary non-tuberculous mycobacterial infection
  • Pulmonary papillomatosis
  • Pulmonic stenosis - brachytelephalangism - calcification of cartilages
  • PURA syndrome
  • Pure autonomic failure
  • Pure CAS
  • Pure dysautonomia
  • Pure dystonia
  • Pure idiopatic dysautonomia
  • PV
  • PXE
  • PXE-like syndrome with retinitis pigmentosa
  • Pycnodysostosis
  • Pyoderma gangrenosum
  • Pyruvate carboxylase deficiency
  • Pyruvate dehydrogenase complex deficiency
  • Pyruvate Dehydrogenase Complex Deficiency (PDCD)
  • Pyruvate dehydrogenase deficiency
  • Pyruvate dehydrogenase E1-alpha deficiency
  • Pyruvate dehydrogenase E3-binding protein deficiency
  • Pyruvate dehydrogenase protein X component deficiency

Q

  • Q fever
  • QRICH1-related intellectual disability-chondrodysplasia syndrome
  • Quadricuspid aortic valve
  • Qualitative or quantitative defects of beta-myosin heavy chain (MYH7)
  • Qualitative or quantitative defects of filamin C
  • Qualitative or quantitative defects of myofibrillar proteins
  • Qualitative or quantitative defects of plectin

R

  • RA
  • Radiation-induced disorder
  • Rala Neurodevelopmental Disorder
  • Ramsay Hunt syndrome
  • Rapid-onset childhood obesity - hypothalamic dysfunction-hypoventilation-autonomic dysregulation - neural tumors
  • Rare adrenocortical nodular disease
  • Rare adult hypothyroidism
  • Rare allergic disease
  • Rare allergy
  • Rare arteriovenous malformation
  • Rare ataxia
  • Rare autonomic nervous system disorder
  • Rare autosomal dominant non-syndromic sensorineural deafness type DFNA
  • Rare bone disease
  • Rare breast cancer
  • Rare cancer of uterus
  • Rare capillary malformation
  • Rare cardiac disease
  • Rare chromosomal anomaly
  • Rare congenital non-syndromic heart malformation
  • Rare diabetes mellitus
  • Rare disease
  • Rare disease with autism
  • Rare disease with glaucoma as a major feature
  • Rare disease with malignant hyperthermia
  • Rare disease with thoracic aortic aneurysm and aortic dissection
  • Rare disorder
  • Rare disorder with a moyamoya angiopathy
  • Rare disorder with dystonia and other neurologic or systemic manifestation
  • Rare disorders
  • Rare dystonia
  • Rare endometriosis
  • Rare epilepsy
  • Rare female infertility due to hypothalamic-pituitary-ovarian axis disorder
  • Rare gastroesophageal disease
  • Rare genetic bone disease
  • Rare genetic cause of hypertension
  • Rare genetic epilepsy
  • Rare genetic eye disease
  • Rare genetic gastroenterological disease
  • 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 connective tissue disease
  • Rare hereditary hemochromatosis
  • Rare hereditary thrombophilia
  • Rare hyperparathyroidism
  • Rare hypertrophic cardiomyopathy
  • Rare hypoparathyroidism
  • Rare inflammatory bowel disease
  • Rare insulin-dependent diabetes mellitus
  • Rare isolated myopia
  • Rare lymphatic malformation
  • Rare macular disorder
  • Rare malignant tumor of uterus
  • Rare metabolic disease
  • Rare movement disorder
  • Rare myoclonus
  • Rare optic nerve disorder
  • Rare parathyroid tumor
  • Rare peripheral neuropathy
  • Rare pervasive developmental disorder
  • Rare precocious puberty
  • Rare primary aldosteronism
  • Rare pulmonary hypertension
  • Rare retinal disorder
  • Rare retinal vasculopathy
  • Rare rheumatologic disease
  • Rare sleep disorder
  • Rare thrombotic disorder due to an acquired coagulation factors defect
  • Rare tremor disorder
  • Rare vascular disease
  • Rathburn disease
  • Reactive arthritis
  • Reading seizures
  • Recessive mitochondrial ataxia syndrome
  • Recessive X-linked ichthyosis
  • Recurrent acute pancreatitis
  • Recurrent benign herpes simplex meningitis
  • Recurrent lymphocytic meningitis
  • Recurrent respiratory papillomatosis
  • Recurrent viral meningitis
  • Reflex sympathetic dystrophy
  • Refractory CD
  • Refractory celiac disease
  • Refractory sprue
  • Refsum disease
  • Reiter syndrome
  • Relapsing fever
  • Relapsing polychondritis
  • Related Metabolic Encephalopathy and Arrhythmias
  • Relentless Placoid Chorioretinitis
  • Remember the Girls
  • Renal agenesis
  • Renal agenesis, unilateral
  • Renal dysplasia
  • Renal Fanconi syndrome with nephrocalcinosis and renal stones
  • Renal nutcracker syndrome
  • Rendu-Osler-Weber disease
  • RERE-related neurodevelopmental syndrome
  • Reticular dystrophy of the retinal pigment epithelium
  • Retinal dystrophy
  • Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies
  • Retinal macular dystrophy type 2
  • Retinitis pigmentosa
  • Retinitis pigmentosa-deafness syndrome
  • Retinoblastoma
  • Retinocochleocerebral vasculopathy
  • Retinol dystrophy-iris coloboma-comedogenic acne syndrome
  • Retinopathy of prematurity
  • Rett syndrome
  • Rett syndrome variant
  • Reynolds syndrome
  • RFC1 CANVAS
  • Rheumatic fever
  • Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
  • Rhizomelic pseudopolyarthritis
  • Rh-null syndrome
  • Rhombencephalosynapsis
  • Rickettsial disease
  • Riedel thyroiditis
  • Rieger syndrome
  • Right aortic arch
  • Right inferior vena cava connecting to left-sided atrium
  • Riley-Day syndrome
  • Ring 20
  • Ring chromosome 14
  • RLIM related disorders and Tonne-Kalscheuer Syndrome
  • RNS
  • Rocky Mountain spotted fever
  • Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome
  • Romano-Ward syndrome
  • ROP
  • Rosaï-Dorfman disease
  • Ross Syndrome
  • Rubinstein-Taybi syndrome
  • Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
  • RUVBL2 mutation

S

  • Sacral agenesis (SA/CRS)
  • Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome
  • SACRAL syndrome
  • Salla disease
  • SAMD9L-associated autoinflammatory syndrome
  • Sandhoff disease
  • SANDO
  • Sanfilippo disease
  • Sanfilippo syndrome type A
  • Sanfilippo syndrome type B
  • SAOA
  • SAPHO syndrome
  • Sarcoidosis
  • SAS
  • SBMA
  • SCA1
  • SCA10
  • SCA11
  • SCA12
  • SCA13
  • SCA14
  • SCA15/16
  • SCA16
  • SCA17
  • SCA18
  • SCA19/22
  • SCA2
  • SCA20
  • SCA21
  • SCA23
  • SCA25
  • SCA26
  • SCA27
  • SCA27B
  • SCA28
  • SCA29
  • SCA3
  • SCA3, Joseph type
  • SCA3, Machado type
  • SCA30
  • SCA31
  • SCA32
  • SCA34
  • SCA35
  • SCA36
  • SCA37
  • SCA4
  • SCA42
  • SCA45
  • SCA5
  • SCA6
  • SCA7
  • SCA8
  • SCAE
  • SCAN 2
  • SCAN1
  • SCAR1
  • SCAR10
  • SCAR12
  • SCAR14
  • SCAR17
  • SCAR2
  • SCAR20
  • SCAR4
  • SCAR6
  • SCAR7
  • SCAR8
  • SCAR9
  • SCD syndrome
  • Scheuermann juvenile kyphosis
  • Scheuermann's disease
  • Scheuermann's kyphosis
  • Schinzel-Giedion syndrome
  • Schizencephaly
  • Schmidt syndrome
  • Schwannomatosis
  • SCID
  • Scimitar syndrome
  • SCLC
  • Scleredema
  • Scleroderma
  • Scleromyxedema
  • SCLS
  • SCN10A mutation
  • SCN2A
  • Scurvy
  • Seckel syndrome
  • Secondary hypoparathyroidism due to impaired parathormon secretion
  • Secondary polycythemia
  • Secondary short bowel syndrome
  • Secondary syringomyelia
  • SECORD
  • Secreting pituitary adenoma
  • Seizures - sensorineural deafness - ataxia - intellectual disability - electrolyte imbalance
  • Selective IgG subclass deficiency
  • Selective IgM deficiency
  • SELENBP1 deficiency
  • Semicircular canal dehiscence syndrome
  • Senior-Loken syndrome
  • Sensorineural hearing loss-early graying-essential tremor syndrome
  • Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome
  • Septo-optic dysplasia spectrum
  • Serous cystadenoma of ovary in childhood
  • SETD1A - SET domain containing 1A, histone lysine methyltransferase
  • Severe dermatitis-multiple allergies-metabolic wasting syndrome
  • Severe dilated cardiomyopathy due to lamin A/C mutation
  • Severe hereditary thrombophilia due to congenital protein C deficiency
  • Severe hereditary thrombophilia due to congenital protein S deficiency
  • Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome
  • Severe myoclonic epilepsy of infancy
  • Severe primary trimethylaminuria
  • Severe PRPS1 superactivity
  • Severe refractory status epilepticus owing to presumed encephalitis
  • Sex chromosome DSD
  • Sharp syndrome
  • Sherman's disease
  • SHINE Syndrome
  • SHML
  • Shone complex
  • Short bowel syndrome
  • Short stature - facial and skeletal anomalies - intellectual disability - macrodontia
  • Short stature-advanced bone age-early-onset osteoarthritis syndrome
  • Short stature-facial and skeletal anomalies-intellectual disability-macrodontia syndrome
  • SHOX-related short stature
  • Shulman syndrome
  • Sialidosis
  • Sialidosis (Mucolipidosis 1)
  • Sialidosis type 1
  • Sialidosis type 2
  • Sicca syndrome
  • Sickle cell anemia
  • Sickle cell-beta-thalassemia disease syndrome
  • Silver-Russell dwarfism
  • Silver-Russell syndrome
  • Silver-Russell syndrome due to an imprinting defect of 11p15
  • Silver-Russell syndrome due to dup(7)(p11.2p13)
  • Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
  • Simple cryoglobulinemia
  • Simple vascular malformation
  • Singleton-Merten syndrome
  • Situs inversus
  • Situs inversus totalis
  • Sjogren syndrome
  • Sjögren-Larsson syndrome
  • Skraban-Deardorff syndrome
  • SKS
  • SLC39A8-CDG
  • SLE
  • Sleep myoclonus
  • Sly disease
  • SMA
  • SMA type 2
  • SMA type 3
  • SMA1
  • Small cell bladder cancer
  • SMARCA2-related blepharophimosis-intellectual disability syndrome
  • SMARD1
  • SMAS
  • SMAX1
  • SMC1A DEE
  • Smith-Kingsmore Syndrome
  • Smith-Lemli-Opitz syndrome
  • Sneddon syndrome
  • Sneddon-Wilkinson disease
  • Snijders Blok-Campeau Syndrome
  • SOD
  • Sodium channelopathy-related small fiber neuropathy
  • Solar urticaria
  • Solitary rectal ulcer syndrome
  • Sorsby`s fundus dystrophy
  • Sotos syndrome
  • Sotos Syndrome 2
  • Spastic ataxia
  • Spastic gait type 2
  • Spastic paraplegia type 7
  • Spastic quadriplegic cerebral palsy
  • SPATA5 related disorder
  • SPATA5L1 related disorder
  • SPAX5
  • SPD
  • Specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells
  • Specific language disorder
  • Specific learning disability
  • Speech and language disorder with orofacial dyspraxia
  • SPEN mutation
  • SPG
  • SPG11
  • SPG12
  • SPG15
  • SPG31
  • SPG39
  • SPG4
  • SPG7
  • SPG8
  • SPG9
  • Spina bifida and other spinal dysraphisms
  • Spina bifida occulta
  • Spina bifida-hypospadias syndrome
  • Spinal and Bulbar Muscular atrophy
  • Spinal cord injury
  • Spinal muscular atrophy associated with central nervous system anomaly
  • Spinal Myoclonus
  • Spinal osteochondrosis
  • Spinocerebellar ataxia - Unknown
  • Spinocerebellar ataxia autosomal recessive type 16
  • 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 19/22
  • Spinocerebellar ataxia type 2
  • Spinocerebellar ataxia type 21
  • Spinocerebellar ataxia type 23
  • Spinocerebellar ataxia type 27
  • Spinocerebellar ataxia type 27B
  • Spinocerebellar ataxia type 28
  • Spinocerebellar ataxia type 29
  • Spinocerebellar ataxia type 3
  • Spinocerebellar ataxia type 3, Joseph type
  • Spinocerebellar ataxia type 3, Machado type
  • Spinocerebellar ataxia type 31
  • Spinocerebellar ataxia type 34
  • Spinocerebellar ataxia type 37
  • Spinocerebellar ataxia type 38
  • Spinocerebellar ataxia type 4
  • Spinocerebellar ataxia type 40
  • Spinocerebellar ataxia type 41
  • Spinocerebellar Ataxia Type 42
  • Spinocerebellar ataxia type 44
  • Spinocerebellar ataxia type 45
  • Spinocerebellar ataxia type 48
  • Spinocerebellar ataxia type 48 (SCA48)
  • Spinocerebellar ataxia type 49
  • Spinocerebellar ataxia type 5
  • Spinocerebellar Ataxia Type 50 (SCA50)
  • Spinocerebellar ataxia type 6
  • Spinocerebellar ataxia type 7
  • Spinocerebellar ataxia type 8
  • Spinocerebellar ataxia with axonal neuropathy type 2
  • Spinocerebellar ataxia with epilepsy
  • Split cord malformation
  • Split cord malformation type I
  • Spondylodysplastic Ehlers-Danlos syndrome
  • Spondylometaphyseal dysplasia - cone-rod dystrophy
  • Spongy myocardium
  • Spontaneous cerebrospinal fluid leak
  • Spontaneous Coronary Artery Dissection
  • Spontaneous intracranial hypotension
  • Sporadic adult-onset ataxia of unknown etiology
  • Sporadic inclusion body myositis
  • Sporadic olivopontocerebellar atrophy type 1
  • Sporadic OPCA type 1
  • SPPRS syndrome
  • Sprengel deformity
  • SPS
  • Squamous cell carcinoma of the anal canal
  • Squamous cell carcinoma of the larynx
  • STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome
  • Staphylococcal toxemia
  • Stargardt disease
  • Sterile multifocal osteomyelitis with periostitis and pustulosis
  • Sternal cleft
  • Steroid sulfatase deficiency
  • Stevens-Johnson syndrome
  • Stewart-Bluefarb syndrome
  • Stickler syndrome
  • Stickler syndrome type 1
  • Stickler syndrome type 2
  • Stickler syndrome type 3
  • Stiff man syndrome
  • Stiff person spectrum disorder
  • Stiff person syndrome and related disorders
  • Still disease
  • Streptococcal TSS
  • Strümpell disease
  • STXBP1-related encephalopathy
  • Subcortical band heterotopia
  • Subcortical laminar heterotopia
  • Subtotal absence of cerebellum
  • succinate-CoA ligase GDP/ADP-forming subunit alpha - SUCLG1
  • Succinic semialdehyde dehydrogenase deficiency
  • Sudden sensorineural hearing loss
  • SUNCT syndrome
  • Superficial siderosis
  • Superior mesenteric artery syndrome
  • Supravalvular pulmonary stenosis
  • SURF1-related Charcot-Marie-Tooth disease type 4
  • Susac syndrome
  • Susceptibility to chronic infection by Epstein-Barr virus
  • Susceptibility to viral and mycobacterial infections due to STAT1 deficiency
  • SVAS
  • SWS
  • Swyer syndrome
  • Sydenham chorea
  • Symptomatic form of Coffin-Lowry syndrome in female carriers
  • Symptomatic form of fragile X syndrome in female carrier
  • Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers
  • Syndrome with combined immunodeficiency
  • Syndrome with hypoparathyroidism
  • Syndromic aniridia
  • Syndromic bile duct paucity
  • Syndromic craniosynostosis
  • Syndromic optic nerve hypoplasia
  • Syndromic retinitis pigmentosa
  • Syndromic rod-cone dystrophy
  • SYNE-1 Ataxia
  • SYNE1-related AMC
  • Synovial sarcoma
  • Synovitis-acne-pustulosis-hyperostosis-osteitis syndrome
  • Syringomyelia
  • Systemic autoimmune disease
  • Systemic capillary leak syndrome
  • Systemic EBV+ T-cell LPD of childhood
  • Systemic Lupus Erythematosus
  • Systemic mastocytosis
  • Systemic polyarthritis
  • Systemic primary carnitine deficiency
  • Systemic scleroderma
  • Systemic sclerosis
  • Systemic sclerosis sine scleroderma
  • Systemic-onset juvenile idiopathic arthritis

T

  • T118M PMP22 Mutation
  • Takotsubo cardiomyopathy
  • Tako-Tsubo cardiomyopathy
  • tanc2 syndrome
  • Tango2
  • Tango2 Disease
  • TANGO2-related metabolic encephalopathy-arrhythmia syndrome
  • Tarlov cyst
  • TARS2 gene mutation
  • Tarui disease
  • Tauri (GSD 7)
  • Tay-Sachs disease
  • TBL1XR1 gene variant
  • TBL1XR1-related disorder
  • TBX4 Syndrome
  • TCF-20
  • Teebi hypertelorism syndrome
  • Temporal arteritis
  • Temporomandibular joint anomaly
  • TENM1
  • Tessier cleft number 1,2
  • Tetanus
  • Tetralogy of Fallot
  • Tetrasomy 16p12.1p12.3
  • TGA
  • TGA
  • THG1L - related disorder
  • Thiamine-responsive maple syrup urine disease
  • Thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness
  • Thomas type SCA3
  • Thoracic outlet compression syndrome
  • Thoracic outlet syndrome
  • Thrombocytopenia-absent radius syndrome
  • Thumb hypodactyly
  • Thygeson superficial punctate keratitis
  • Thygeson superficial punctate keratopathy
  • Thyroid stimulating hormone-secreting pituitary adenoma
  • Tic douloureux
  • Tick-borne encephalitis
  • TINU syndrome
  • TJP2 deficit
  • TKT deficiency
  • TMAU
  • TNP03-related limb-girdle muscular dystrophy D2
  • Tolosa-Hunt syndrome
  • Tornwaldt Cyst
  • TOS
  • Touraine-Solente-Gole syndrome
  • Townes-Brocks syndrome
  • Toxic Exposure ataxia
  • Toxoplasma embryofetopathy
  • TPK1 - Thiamine pyrophosphokinase deficiency
  • Transient congenital hypothyroidism
  • Transient Epileptic Amnesia
  • Transient Global Amnesia (TGA)
  • Transient hyperammonemia of the newborn
  • Transposition of the great arteries
  • TRAPS syndrome
  • Treacher-Collins syndrome
  • Trichorhinophalangeal syndrome
  • Trigeminal autonomic cephalalgia
  • Trigeminal neuralgia
  • TRIM63
  • Trimethylaminuria
  • Triple X syndrome
  • Trismus-pseudocamptodactyly syndrome
  • Trisomy 10p
  • Trisomy 13
  • Trisomy 18
  • Trisomy 1q21.1
  • Trisomy 21
  • Trisomy 5p
  • Trisomy X
  • TRMA
  • Troyer syndrome
  • TRPV4-related bone disorder
  • TTP
  • TTR amyloid neuropathy
  • TTR-related cardiac amyloidosis
  • TUBA1A
  • TUBB2A mutation
  • TUBB3
  • Tuberous sclerosis complex
  • Tubulinopathy
  • Tularemia
  • Tumor of cranial and spinal nerves
  • Turban tumor syndrome
  • Turner syndrome
  • turnpenny-fry syndrome (TPFS)
  • Typical urticaria pigmentosa
  • Tyrosinemia type 1

U

  • UCTD
  • Ulcerative proctitis
  • Ulcerative pyoderma gangrenosum
  • Ulnar hypoplasia-lobster-claw deformity of feet syndrome
  • Unaffected Carrier Ataxia
  • Unclassified autoinflammatory syndrome
  • Unclassified intestinal pseudoobstruction
  • Unclassified myelodysplastic syndrome
  • Uncomplicated SPG
  • Undetermined colitis
  • Undiagnosed
  • Undifferentiated connective tissue syndrome
  • Unexplained periodic fever syndrome
  • Unilateral MCDK
  • Unilateral renal agenesis
  • Unroofed coronary sinus
  • Unspecified JIA
  • Unspecified juvenile idiopathic arthritis
  • Unspecified mitochondrial disorder
  • Upper limb hypertrophy
  • USH2
  • USP9X syndrome
  • Uveitis

V

  • VACTERL association
  • VACTERL with hydrocephalus
  • VACTERL/VATER association
  • Valley fever
  • Van der Woude syndrome
  • Variant of GBS
  • Vascular Ehlers-Danlos syndrome
  • Vascular-like classical Ehlers-Danlos syndrome
  • Vasculitis
  • VATER association
  • VCP Disease
  • Venous scalenus anticus syndrome
  • Venous thoracic outlet syndrome
  • Verneuil disease
  • Very long chain acyl-CoA dehydrogenase deficiency
  • Vestibular schwannoma
  • VHL
  • Virginal breast hypertrophy
  • Visual snow syndrome
  • Vitamin B12- and folate-independent constitutional megaloblastic anemia
  • Vitamin B12 Deficiency Ataxia
  • Vitamin B6-responsive seizures
  • VLCAD deficiency
  • Vogt-Koyanagi-Harada disease
  • Von Recklinghausen disease due to NF1 mutation or intragenic deletion
  • Von Willebrand disease
  • Von Willebrand disease type 1
  • Von Willebrand disease type 2A
  • Von Willebrand disease type 2B
  • Von Willebrand disease type 2M
  • Von Willebrand disease type 2N
  • VSD
  • Vulto-Van Silfhout-de Vries Syndrome

W

  • Waardenburg syndrome type 2
  • WAGR syndrome
  • Waldenstrom Macroglobulinemia
  • Waldenström macroglobulinemia
  • WARBM
  • Warburg micro syndrome
  • Warburg Micro Syndrome 1
  • Wermer syndrome
  • West syndrome
  • West-Nile encephalitis
  • West-Nile fever
  • WHIM syndrome
  • White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome
  • White-Sutton syndrome
  • Wiedemann-Steiner syndrome
  • Wildervanck syndrome
  • Williams syndrome
  • Willi-Prader syndrome
  • Wilms tumor
  • Wilms tumor - aniridia - genitourinary anomalies - intellectual disability
  • Wilms tumor and pseudohermaphroditism
  • Winged scapula
  • Wolf-Hirschhorn syndrome
  • Wolfram syndrome
  • WWOX developmental and epileptic encephalopathy (WWOX-DEE)
  • WWOX Related Epileptic Encephalopathy (WOREE syndrome)
  • WWS

X

  • X-ALD
  • Xanthinuria type II
  • Xeroderma pigmentosum
  • Xeroderma pigmentosum-Cockayne syndrome complex
  • Xia-Gibbs syndrome
  • XLH
  • XLI
  • X-linked adrenal hypoplasia congenita
  • X-linked adrenoleukodystrophy
  • X-linked ALD
  • X-linked Alport syndrome
  • X-linked BSMA
  • X-linked bulbospinal amyotrophy
  • X-linked bulbospinal muscular atrophy
  • X-linked cerebral adrenoleukodystrophy
  • X-linked Charcot-Marie-Tooth disease type 6
  • X-linked hydrocephalus
  • X-linked hypophosphatemia
  • X-linked hypophosphatemic rickets
  • X-linked intellectual disability - hypotonia - recurrent Infections
  • X-linked intellectual disability due to GRIA3 mutations
  • X-linked intellectual disability, Turner type
  • X-linked intellectual disability-ataxia-apraxia syndrome
  • X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome
  • X-linked lethal multiple pterygium syndrome
  • X-linked mixed conductive and sensorineural hearing loss
  • X-linked MSMD due to CYBB deficiency
  • X-linked progressive cerebellar ataxia
  • X-linked recessive hypercalciuric hypophosphatemic rickets
  • X-linked spinal and bulbar muscular atrophy
  • XLMTM
  • XLP
  • XLRS
  • Xq13.2 Microduplication
  • Xq25 microduplication syndrome
  • XX gonodal dysgenesis - deafness

Y

  • Yao Syndrome
  • Yellow nail syndrome
  • Young-onset Parkinson disease

Z

  • Zellweger syndrome
  • ZMYND11
  • ZMYND11 alteration
  • ZMYND11 mutations
  • Zollinger-Ellison syndrome

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