Represented Diseases

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
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
2q33.1 microdeletion syndrome
2q33.1q34 deletion syndrome
2q37 microdeletion syndrome
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

AA amyloidosis
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
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
Acrodysplasia scoliosis
Acrofacial dysostosis, Genee-Wiedmann type
Acrofacial dysostosis, Kennedy-Teebi type
Acromegaly
Acromesomelic dysplasia
Acroosteolysis with osteoporosis and changes in skull and mandible
ACTH-dependent Cushing syndrome
Actinomycosis
Acute adrenal failure
Acute adrenal insufficiency
Acute adrenocortical insufficiency
Acute biphenotypic leukemia
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 promyelocytic leukemia
Acute transverse myelitis
Adams-Oliver syndrome
ADCA
ADCA1
ADCA3
ADCA-DN
ADCA-DN syndrome
Addison disease
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
Adolescent-onset epilepsy syndrome
ADPKD
Adrenal CS
Adrenal Cushing syndrome
Adrenomyeloneuropathy
ADSL deficiency
Adult ARDS
Adult CRMO
Adult hypophosphatasia
Adult idiopathic neutropenia
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 Still disease
AE
aEDS
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 hearing loss-nephropathy
Alport syndrome
ALS
ALS4
ALSG
Alström syndrome
AMACR deficiency
AMAN
Amaurosis congenita of Leber
AMC
Amelia of upper limb
Amelogenesis imperfecta
Amelogenesis imperfecta - nephrocalcinosis
Amelogenesis imperfecta-gingival hyperplasia syndrome
AML
Amyloidosis
Amyotrophic lateral sclerosis
Anal fistula
Anaplastic thyroid carcinoma
ANCA-associated vasculitis
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
ANKRD11
Ankyloblepharon filiforme adnatum-imperforate anus syndrome
Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
Ankylosing spondylarthritis
Ankylosing spondylitis
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
AOLCA
AORRP-Adult Onset Recurrent Respiratory Papillomatosis
Aorta coarctation
Aortic arch defects
Aortic dilatation-joint hypermobility-arterial tortuosity syndrome
AOS
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
AR-HED
ARM
Arnold-Chiari malformation type 1
Arnold-Chiari malformation type I
Arpc4 gene variant
ARSACS
Arterial thoracic outlet compression syndrome
Arterial thoracic outlet syndrome
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, sinus venosus type
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 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 progressive supranuclear palsy syndrome
Atypical PSP
Autism spectrum disorder due to a POGZ deficiency
Autism spectrum disorder due to AUTS2 deficiency
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 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 complicated HSP
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 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 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 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 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 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 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 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 SLE
Autosomal spastic paraplegia type 30
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

Babesiosis
Balint syndrome
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
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 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 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
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
Boylan-Dew syndrome
BPAN
BPD
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

C12ORF65-related combined oxidative phosphorylation defect
C3 glomerulonephritis
CACD
CACNA1A gene mutation
CAD
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
Cancer diagnosed during pregnancy
Cancer of fallopian tubes
CANVAS
CANVAS Syndrome
CAPOS syndrome
CAPS
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
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
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 visual impairment
Cervical leiomyosarcoma
Cervico-oculo-acoustic syndrome
CF
CFA
CFC syndrome
CGD
CHAMP1
Charcot-Marie-Tooth disease type 2P
Charcot-Marie-Tooth disease type 2T
Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy
Charcot-Marie-Tooth hereditary neuropathy
CHARGE 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-Meunier-Hodgkinson syndrome
CHM
Choanal atresia, bilateral
Choanal atresia, unilateral
Cholangiocarcinoma
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
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 juvenile NCL
Classic juvenile neuronal ceroid lipofuscinosis
Classic late infantile NCL
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
CMT
CMT2
CMT2 due to VCP mutation
CMT2A2
CMT2L
CMT4J
CMT4K
CMV antenatal infection
CMV disease in patients with impaired cell mediated immunity deemed at risk
CNO/CRMO
Coats disease
Cockayne syndrome
Cockayne syndrome type 1
Cockayne syndrome type 2
Cockayne syndrome type 3
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-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 essential nyctalopia
Congenital F8 deficiency
Congenital facial diplegia
Congenital factor II deficiency
Congenital factor V deficiency
Congenital factor VII deficiency
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 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 partial pulmonary venous return anomaly
Congenital pernicious anemia
Congenital primary lymphedema
Congenital primary megaureter, refluxing form
Congenital pseudoarthrosis of the fibula
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 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 tracheal stenosis
Congenital tracheomalacia
Congenital vertical talus
Congenital vertical talus, bilateral
Congenital vitamin K-dependent coagulation factors deficiency
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
Corticotropin-dependent Cushing syndrome
Cowden disease
Cowden syndrome
COX deficiency, French-Canadian type
CPS1 deficiency
Cramp Fasciculation Syndrome
Cranial dural arteriovenous fistula
Cranial dural arteriovenous malformations
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)
Cystathionine beta-synthase deficiency
Cystic fibrosis
Cystinosis
Cystoid macular dystrophy

DDX41-related hematologic malignancy predisposition syndrome
De la Chapelle syndrome
De Morsier syndrome
DEAF1 – Deformed epidermal autoregulatory factor – 1
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
DI
Diamond-Blackfan anemia
Diamond-Blackfan anemia syndrome
Diazoxide-sensitive diffuse hyperinsulinism
DIDMOAD syndrome
Diethylstilbestrol syndrome
Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome
Diffuse cutaneous systemic scleroderma
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 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 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
Duane anomaly - myopathy - scoliosis
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

E410K Syndrome
Eagles Syndrome
Early infantile epileptic encephalopathy
Early infantile epileptic encephalopathy 5 (EIEE5)
Early infantile epileptic encephalopathy with suppression-bursts
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
EDS
EDS III
EDS IV
EDS VII
EDS with periventricular heterotopia
EDS, classic type
EDS, classic-like type
EFMR
EGE
EGPA
Ehlers-Danlos syndrome
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
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
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 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

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 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 non-immune hyperthyroidism
Familial or sporadic hemiplegic migraine
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
FBX011 alteration
FCAS2
Feingold syndrome
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
Fourth branchial cleft cyst
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
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)
Fused renal ectopia
FXS
FXTAS syndrome

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
Gélineau disease
Generalized cervical and upper-limb-onset 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 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
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
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 5
GSD type 7
GSD type 9D
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

HAE
HAE 1
HAE 3
Hajdu-Cheney syndrome
Halitosis
Hanot syndrome
Hantavirus pulmonary syndrome
Harlequin syndrome
Hashimoto encephalitis
Hashimoto hypothyroidism
Hashimoto thyroiditis
HbS - beta-thalassemia
HCN1 Disorder
HDL1
Heat shock protein B8 myopathy
hEDS
HELLP syndrome
Hemicrania continua
Hemifacial microsomia - radial defects
Hemifacial spasm
Hemihyperplasia-multiple lipomatosis syndrome
Hemimegalencephaly
Hemochromatosis type 1
Hemoglobin E-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 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 type 3
Hereditary spastic paraparesis
Hereditary spastic paraplegia
Hereditary spherocytosis
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
Homocystinuria due to cystathionine beta-synthase deficiency
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Horror Fusionis
Horton headache
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
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

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 inflammatory myopathy
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 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 MASP-2 deficiency
Immunodeficiency-associated lymphoproliferative disease
Immunologic neutropenia
IMNM
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-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 severe Salla disease
Intermediate uveitis
Intermittent maple syrup urine disease
Intermittent MSUD
Internal carotid absence
Interstitial cystitis
Interstitial lung disease
Interventricular septum aneurysm
Intestinal lymphangiectasia
Intestinal Malrotation
Intestinal Metabolic Bromhidrosis Syndrome
Intracranial arteriovenous malformation
Intrahepatic cholestasis of pregnancy
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 biliary atresia
Isolated cerebellar vermis hypoplasia
Isolated childhood apraxia of speech
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 micropenis
Isolated mitochondrial respiratory chain complex I deficiency
Isolated mitochondrial respiratory chain complex III deficiency
Isolated mitochondrial respiratory chain complex V deficiency
Isolated Pierre Robin sequence
Isolated Pierre Robin syndrome
Isolated polycystic liver disease
Isolated postlingual genetic deafness
Isolated thyroid-stimulating hormone deficiency
ITP
IU
Ivemark syndrome

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

Kabuki make-up syndrome
Kabuki syndrome
Kallmann syndrome
Karsch-Neugebauer syndrome
KAT6A Syndrome
Kawasaki disease
KBG syndrome
KCNB1 gene
KCNC1
KCNMA1-Channelopathy
Kennedy disease
Keratocystic odontogenic tumor
Kienbock disease
KIF4A Associated Syndrome
Kindler epidermolysis bullosa
Kjer optic atrophy
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 due to lysyl hydroxylase 1 deficiency

L1 syndrome
L1CAM syndrome
Laing early-onset distal myopathy
LAM
LAMA2-related muscular dystrophy
Lambert-Eaton myasthenic syndrome
Lambert-Eaton myasthenic syndrome (LEMS)
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
Legionnaires' disease
Legius syndrome
Leigh disease
Leigh disease with leukodystrophy
Leigh disease with myopathy
Leigh syndrome
Leigh syndrome with cardiomyopathy
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
Lethal multiple pterygium syndrome
Lethal neurodegenerative disorder due to copper transport defect
Leukodystrophy
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
Lhermitte-Duclos disease
LHON
Liang-Wang syndrome
Lichen planopilaris
Lichen Sclerosus
Liddle syndrome
Li-Fraumeni syndrome
Light-chain amyloidosis
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
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
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 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

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
Maffucci syndrome
Majeed syndrome
Mal de Debarquement Syndrome
Malan overgrowth syndrome
Malan Syndrome
Malan Syndrome
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
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
Maternal uniparental disomy of chromosome 22
Maternally-inherited diabetes and deafness
Maternally-inherited Leigh disease
Maternally-inherited mitochondrial dystonia
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
Melanoma-pancreatic cancer syndrome
MELAS
Melioidosis
Melorheostosis
Melorheostosis with osteopoikilosis
MEN
MEN 1
MEN2A
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
Metaplastic carcinoma of the breast
Methicillin-Resistant Staphylococcus Aureus (MRSA) Infection
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 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, encephalopathy, lactic acidosis and stroke-like episodes
Mixed connective tissue disease
Mixed cryoglobulinemia type II
MJD
ML III alpha/beta
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 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
Morquio disease type A
Morvan's fibrillary chorea
Mosaic trisomy 8
Motor neuron disease
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
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 gamma
Mucolipidosis type 4
Mucolipidosis type II
Mucolipidosis type II alpha/beta
Mucolipidosis type II/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 2A
Multiple endocrine neoplasia type 2B
Multiple endocrine neoplasia type 4
Multiple epiphyseal dysplasia
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
Myeloproliferative neoplasm
Myhre syndrome
Myhre-Riley-Smith syndrome
MYO5B-related progressive familial intrahepatic cholestasis
Myoclonus-dystonia syndrome
Myoclonus-dystonia type 15
Myofibrillar myopathy
Myophosphorylase deficiency
Myotonia congenita
Myotonic dystrophy
Myotonic dystrophy type 2
Myotubular myopathy
MYT1L Syndrome
MYT1L-related developmental delay-intellectual disability-obesity syndrome

NAFLD
NAION
NAIT
Narcolepsy
Narcolepsy type 1
Narcolepsy type 2
Narcolepsy with or without cataplexy
Narcolepsy without cataplexy
Narcolepsy-cataplexy
NARP syndrome
NEDCPMD
Neonatal adrenoleukodystrophy
Neonatal antiphospholipid syndrome
Neonatal hypoxic and ischemic brain injury
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
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: 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: 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-progressive cerebellar ataxia - intellectual disability
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
NSTI
NTHL1 Tumor Syndrome
NTOS
NUS1

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: 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: Behr syndrome
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 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: Systemic disease with cataract
OBSOLETE: Unclassified autosomal dominant spinocerebellar ataxia
OBSOLETE: Unclassified overlapping connective tissue disease
OBSOLETE: Unknown leukodystrophy
OBSOLETE: Vitiligo-associated autoimmune disease
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
Open spinal dysraphism with a myelomeningocele
OPHN1 syndrome
Ophthalmoacromelic syndrome
Ophthalmoplegia - hypotonia - ataxia - hypoacusis - athetosis
OPMD
Opsoclonus-myoclonus syndrome
Opsoclonus-myoclonus-ataxia syndrome
Optic Nerve Atrophy
Optic neuropathy
Optic pathway glioma
Ornithine transcarbamylase deficiency
Oroya fever
Orthopaedic surgery
Osseous venous malformation
Osteochondritis dissecans
Osteochondritis of the capital femoral epiphysis
Osteogenesis imperfecta
Osteogenesis imperfecta type 1
Osteonecrosis
Osteopenia - myopia - hearing loss - intellectual disability - facial dysmorphism
Osteopetrosis
OTC deficiency
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

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
Paraneoplastic cerebellar degeneration
Paraneoplastic opsoclonus-myoclonus-ataxia syndrome
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 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 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 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
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
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
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 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
Polyostotic fibrous dysplasia
Pompe disease
Pontine tegmental cap dysplasia
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 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 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 non-fluent aphasia
Progressive supranuclear palsy
Progressive supranuclear palsy-parkinsonism syndrome
Prolactinoma
Properdin deficiency
Propriospinal Myoclonus
PROS
Protein defect of cystin transport
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
Pseudotumor cerebri
PSP
PSS
Psychogenic movement disorders
PTEN hamartoma tumor syndrome
PTLD
Ptosis
Ptosis - strabismus - rectus abdominis diastasis
Pudendal neuralgia
Pulmonary arterial hypertension
Pulmonary branch stenosis
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 dysautonomia
Pure dystonia
Pure idiopatic dysautonomia
PV
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 fever
QRICH1-related intellectual disability-chondrodysplasia syndrome
Qualitative or quantitative defects of beta-myosin heavy chain (MYH7)
Qualitative or quantitative defects of filamin C
Qualitative or quantitative defects of myofibrillar proteins

RA
Radiation-induced disorder
Rala Neurodevelopmental Disorder
Ramsay Hunt syndrome
Rapid-onset childhood obesity - hypothalamic dysfunction-hypoventilation-autonomic dysregulation - neural tumors
Rare adult hypothyroidism
Rare allergic disease
Rare allergy
Rare arteriovenous malformation
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 endometriosis
Rare female infertility due to hypothalamic-pituitary-ovarian axis disorder
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 neurological disorder
Rare genetic retinal disorder
Rare headache
Rare hereditary hemochromatosis
Rare hereditary thrombophilia
Rare hyperparathyroidism
Rare hypertrophic cardiomyopathy
Rare hypoparathyroidism
Rare hypothalamic or pituitary disease
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
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
ROHHAD
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

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
SBMA
SCA1
SCA10
SCA11
SCA12
SCA13
SCA14
SCA15/16
SCA16
SCA17
SCA18
SCA19/22
SCA2
SCA20
SCA21
SCA23
SCA26
SCA27
SCA27B
SCA28
SCA29
SCA3
SCA3, Joseph type
SCA3, Machado type
SCA30
SCA34
SCA35
SCA36
SCA4
SCA42
SCA45
SCA5
SCA6
SCA7
SCA8
SCAN 2
SCAN1
SCAR1
SCAR10
SCAR12
SCAR14
SCAR17
SCAR2
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
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 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 primary trimethylaminuria
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
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
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
SPD
Specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells
Specific learning disability
SPEN mutation
SPG11
SPG12
SPG15
SPG31
SPG4
SPG7
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 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 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
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
Streptococcal TSS
Strümpell disease
STXBP1-related encephalopathy
Subcortical band heterotopia
Subcortical laminar heterotopia
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
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 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

T118M PMP22 Mutation
Takotsubo cardiomyopathy
tanc2 syndrome
Tango2
Tango2 Disease
Tarlov cyst
TARS2 gene mutation
Tarui disease
Tauri (GSD 7)
Tay-Sachs disease
TBX4 Syndrome
TCF-20
Temple syndrome due to paternal 14q32.2 hypomethylation
Temporal arteritis
Temporomandibular joint anomaly
TENM1
Tessier cleft number 1,2
Tetanus
Tetralogy of Fallot
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
TMAU
Tolosa-Hunt syndrome
Tornwaldt Cyst
TOS
Touraine-Solente-Gole syndrome
Townes-Brocks syndrome
Toxic Exposure ataxia
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
TRMA
Troyer syndrome
TRPV4-related bone disorder
TTP
TTR amyloid neuropathy
TTR-related cardiac amyloidosis
TUBB2A mutation
TUBB3
Tuberous sclerosis complex
Tubulinopathy
Tularemia
Tumor of cranial and spinal nerves
Turner syndrome
turnpenny-fry syndrome (TPFS)
Typical urticaria pigmentosa
Tyrosinemia type 1

UCTD
Ulcerative proctitis
Ulcerative pyoderma gangrenosum
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 juvenile idiopathic arthritis
USH2
USP9X syndrome
Uveitis

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
Very long chain acyl-CoA dehydrogenase deficiency
Vestibular schwannoma
VHL
Virginal breast hypertrophy
Visual snow syndrome
Vitamin B12 Deficiency Ataxia
Vitamin B6-responsive seizures
VLCAD deficiency
Vogt-Koyanagi-Harada disease
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

Waardenburg syndrome type 2
WAGR syndrome
Waldenstrom Macroglobulinemia
Waldenström macroglobulinemia
WARBM
Warburg micro syndrome
Warburg Micro Syndrome 1
Wermer 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-ALD
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 hypophosphatemia
X-linked hypophosphatemic rickets
X-linked intellectual disability - hypotonia - recurrent Infections
X-linked intellectual disability due to GRIA3 mutations
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

Yao Syndrome
Yellow nail syndrome

Zellweger syndrome
ZMYND11
ZMYND11 alteration
ZMYND11 mutations
Zollinger-Ellison syndrome

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