ORPHANET - RARE DISEASES PINS - Personalized Cause

ORPHANET - Rare Disease Pins

What is Orphanet?

Orphanet is a collaborative effort involving multiple countries. Its aim, therefore, is to share knowledge and expertise on rare diseases across the globe. Orphanet also strives to enhance the diagnosis, care, and treatment of patients with rare diseases. It does this by providing high-quality information and ensuring equal access to knowledge for all stakeholders. This includes healthcare professionals and the general public. In other words, Orphanet acts as a comprehensive information portal on rare diseases and orphan drugs. It also serves as a resource on rare disease and orphan drug content. Content, for example, is developed based on peer-reviewed journal articles and internationally recognized experts.

Why Does Personalized Cause® Use the Denim Ribbon to Represent Orphanet?

Personalized Cause® uses the blue jeans designation because of Orphanet’s association with Global Genes®. Global Genes’s list of rare diseases is powered by Orphanet. Orphanet is an authoritative disease database. It includes both genetic and clinically recognized rare conditions, including congenital rare diseases.

Global Genes is a global non-profit advocacy organization for individuals and families fighting rare and genetic diseases. The organization designates its rare diseases with a blue denim “Genes Ribbon.” This ribbon is intended to raise awareness about rare and genetic diseases.

Please see both our personalized and non-personalized denim blue jeans enamel awareness ribbon pins. We feature them on this page and throughout our website.

Orphanet's History and Definition of Rare Diseases

Orphanet was established in France in 1997. It gathers and disseminates scarce knowledge to improve the diagnosis, care and treatment of patients with rare diseases. Grants from the European Commission support its efforts. Orphanet has grown to a network of 42 countries within Europe and across the globe.

Orphanet helps all stakeholders access quality information online. And, it contributes to knowledge by producing massive, computable, re-usable scientific data. Orphanet defines a rare disease as one with a prevalence of less than 1 per 2000 people residing in Europe.

What is the Difference Between NORD® and Orphanet?

NORD stands for the National Organization for Rare Disorders. NORD is a non-profit organization focused on providing information and advocacy for people with rare diseases. Orphanet, on the other hand, is a comprehensive online database that collects and disseminates information specifically about rare diseases. It essentially acts as a knowledge hub for researchers and healthcare professionals on a particular topic. While both deal with rare diseases, NORD is primarily a patient advocacy group. In contrast, Orphanet is a data repository and information platform.

A Comprehensive List of Orphanet Rare Diseases

AA amyloidosis

AApoAI amyloidosis

AApoAII amyloidosis

AApoAIV amyloidosis

Aarskog-Scott syndrome

ABeta amyloidosis, Arctic type

ABeta amyloidosis, Dutch type

ABeta amyloidosis, Iowa type

ABeta amyloidosis, Italian type

ABeta2M amyloidosis

ABetaA21G amyloidosis

ABetaL34V amyloidosis

Abetalipoproteinemia

Abnormal number of coronary ostia

Abnormal origin of right or left pulmonary artery from the aorta

Abnormal origin of the pulmonary artery

ABri amyloidosis

Absence of innominate vein

Absence of the pulmonary artery

Absence of uterine body

Absent thumb-short stature-immunodeficiency syndrome

Accessory mitral valve tissue

Aceruloplasminemia

Acetazolamide-responsive myotonia

Achondrogenesis type 1B

Achondrogenesis type 2

Achondroplasia

Achromatopsia

Acid sphingomyelinase deficiency

Acinar cell carcinoma of pancreas

Acquired angioedema

Acquired angioedema type 1

Acquired angioedema type 2

Acquired angioedema with C1Inh deficiency

Acquired arginine vasopressin deficiency

Acquired ataxia

Acquired chronic primary adrenal insufficiency

Acquired Creutzfeldt-Jakob disease

Acquired cystic disease-associated renal cell carcinoma

Acquired generalized lipodystrophy

Acquired hemophagocytic lymphohistiocytosis associated with malignant disease

Acquired hemophilia A

Acquired hemophilia B

Acquired ichthyosis

Acquired idiopathic sideroblastic anemia

Acquired immunodeficiency

Acquired lipodystrophy

Acquired methemoglobinemia

Acquired motor neuron disease

Acquired partial lipodystrophy

Acquired peripheral neuropathy

Acquired pituitary hormone deficiency

Acquired pseudoxanthoma elasticum

Acquired secondary polycythemia

Acquired von Willebrand syndrome

Acral peeling skin syndrome

Acral self-healing collodion baby

Acro-renal-ocular syndrome

Acrocallosal syndrome

Acrocardiofacial syndrome

Acrodermatitis enteropathica

Acrofacial dysostosis, Weyers type

Acromegaly

Acromicric dysplasia

ACTH-dependent Cushing syndrome

Action myoclonus-renal failure syndrome

Activated PI3K-delta syndrome

Acute adrenal insufficiency

Acute basophilic leukemia

Acute disseminated encephalomyelitis

Acute disseminated encephalomyelitis with anti-MOG antibodies

Acute encephalopathy with inflammation-mediated status epilepticus

Acute erythroid leukemia

Acute graft versus host disease

Acute hepatic porphyria

Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins

Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome

Acute infantile liver failure-multisystemic involvement syndrome

Acute inflammatory demyelinating polyradiculoneuropathy

Acute intermittent porphyria

Acute interstitial pneumonia

Acute leukemia of ambiguous lineage

Acute liver failure

Acute lymphoblastic leukemia

Acute mast cell leukemia

Acute megakaryoblastic leukemia

Acute megakaryoblastic leukemia in children with Down syndrome

Acute megakaryoblastic leukemia in children without Down syndrome

Acute monoblastic/monocytic leukemia

Acute motor and sensory axonal neuropathy

Acute motor axonal neuropathy

Acute myeloblastic leukemia with maturation

Acute myeloblastic leukemia without maturation

Acute myeloid leukaemia with myelodysplasia-related features

Acute myeloid leukemia

Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent

Acute myeloid leukemia and myelodysplastic syndromes related to radiation

Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor

Acute myeloid leukemia with 11q23 abnormalities

Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)

Acute myeloid leukemia with CEBPA somatic mutations

Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2)

Acute myeloid leukemia with minimal differentiation

Acute myeloid leukemia with NPM1 somatic mutations

Acute myeloid leukemia with recurrent genetic anomaly

Acute myeloid leukemia with t(6;9)(p23;q34)

Acute myeloid leukemia with t(8;16)(p11;p13) translocation

Acute myeloid leukemia with t(8;21)(q22;q22) translocation

Acute myeloid leukemia with t(9;11)(p22;q23)

Acute myeloid leukemia with t(9;22)(q34.1;q11.2)

Acute myelomonocytic leukemia

Acute necrotizing encephalopathy of childhood

Acute neonatal citrullinemia type I

Acute pandysautonomia

Acute panmyelosis with myelofibrosis

Acute promyelocytic leukemia

Acute pure sensory neuropathy

Acute sensory ataxic neuropathy

Acute transverse myelitis

Acute transverse myelitis with anti-MOG antibodies

Acute undifferentiated leukemia

ACys amyloidosis

Adams-Oliver syndrome

ADan amyloidosis

Addison disease

Adducted thumbs-arthrogryposis syndrome, Christian type

Adenine phosphoribosyltransferase deficiency

Adenocarcinoma of ovary

Adenocarcinoma of the cervix uteri

Adenocarcinoma of the esophagus

Adenocarcinoma of the gallbladder and extrahepatic biliary tract

Adenocarcinoma of the liver and intrahepatic biliary tract

Adenocarcinoma of the penis

Adenoid basal carcinoma of the cervix uteri

Adenoid cystic carcinoma of the cervix uteri

Adenosarcoma of the cervix uteri

Adenosarcoma of the corpus uteri

Adenosine deaminase 2 deficiency

Adenosine monophosphate deaminase deficiency

Adermatopathic dermatomyositis

Adiposis dolorosa

ADNP syndrome

Adolescent-onset epilepsy syndrome

Adrenal Cushing syndrome

Adrenal hypoplasia congenita

Adrenal/paraganglial tumor

Adrenocortical carcinoma

Adrenocortical carcinoma with pure aldosterone hypersecretion

Adrenogenital syndrome

Adrenomyeloneuropathy

Adrenomyodystrophy

Adult acute respiratory distress syndrome

Adult hepatocellular carcinoma

Adult hypophosphatasia

Adult Krabbe disease

Adult polyglucosan body disease

ADULT syndrome

Adult T-cell leukemia/lymphoma

Adult-onset autosomal dominant leukodystrophy

Adult-onset autosomal recessive cerebellar ataxia

Adult-onset autosomal recessive sideroblastic anemia

Adult-onset cervical dystonia, DYT23 type

Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy

Adult-onset dystonia-parkinsonism

Adult-onset foveomacular vitelliform dystrophy

Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia

Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency

Adult-onset myasthenia gravis

Adult-onset nemaline myopathy

Adult-onset progressive leukoencephalopathy-early-onset deafness

Adult-onset Steinert myotonic dystrophy

Adult-onset Still disease

AFib amyloidosis

Agammaglobulinemia

AGel amyloidosis

Aggressive B-cell non-Hodgkin lymphoma

Aggressive NK-cell leukemia

Aggressive primary cutaneous B-cell lymphoma

Aggressive primary cutaneous T-cell lymphoma

Aggressive systemic mastocytosis

AH amyloidosis

AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome

Aicardi syndrome

Aicardi-Goutières syndrome

Airway infantile hemangioma

AKT2-related familial partial lipodystrophy

AL amyloidosis

Alacrimia-choreoathetosis-liver dysfunction syndrome

Alagille syndrome

Alagille syndrome due to 20p12 microdeletion

Alagille syndrome due to a JAG1 point mutation

Alagille syndrome due to a NOTCH2 point mutation

Alazami syndrome

Albers-Schönberg osteopetrosis

ALDH18A1-related De Barsy syndrome

ALECT2 amyloidosis

Alexander disease

Alexander disease type I

Alexander disease type II

ALG1-CDG

ALG11-CDG

ALG12-CDG

ALG13-CDG

ALG2-CDG

ALG3-CDG

ALG6-CDG

ALG8-CDG

ALG9-CDG

ALK-negative anaplastic large cell lymphoma

ALK-positive anaplastic large cell lymphoma

ALK-positive large B-cell lymphoma

Alkaptonuria

Allan-Herndon-Dudley syndrome

Allergic bronchopulmonary aspergillosis

Alobar holoprosencephaly

Alopecia antibody deficiency

Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome

Alpers-Huttenlocher syndrome

Alpha delta granule deficiency

Alpha granule disease

Alpha-1-antitrypsin deficiency

Alpha-B crystallin-related late-onset myopathy

Alpha-crystallinopathy

Alpha-dystroglycan-related limb-girdle muscular dystrophy R16

Alpha-mannosidosis

Alpha-mannosidosis, adult form

Alpha-mannosidosis, infantile form

Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3

Alpha-thalassemia

Alpha-thalassemia and related disorders

Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16

Alpha-thalassemia-myelodysplastic syndrome

Alport syndrome

Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome

Alström syndrome

Alternating hemiplegia

Alternating hemiplegia of childhood

Alveolar echinococcosis

Alveolar rhabdomyosarcoma

Alveolar soft tissue sarcoma

ALys amyloidosis

Amelocerebrohypohidrotic syndrome

Amelogenesis imperfecta

Amino acid or protein metabolism disease with epilepsy

Aminoacylase 1 deficiency

Aminoacylase deficiency

Amish lethal microcephaly

Amish nemaline myopathy

Amniotic band syndrome

Amoebiasis due to Entamoeba histolytica

Amyloidosis

Amyopathic dermatomyositis

Amyotrophic lateral sclerosis

Amyotrophic lateral sclerosis type 4

Anaplastic astrocytoma

Anaplastic ependymoma

Anaplastic ganglioglioma

Anaplastic large cell lymphoma

Anaplastic oligoastrocytoma

Anaplastic oligodendroglioma

Anaplastic thyroid carcinoma

Anaplastic/large cell medulloblastoma

Anauxetic dysplasia

Andersen-Tawil syndrome

Androgen insensitivity syndrome

ANE syndrome

Aneurysm of sinus of Valsalva

Aneurysm-osteoarthritis syndrome

Aneurysmal bone cyst

Angelman syndrome

Angelman syndrome due to a point mutation

Angelman syndrome due to imprinting defect in 15q11-q13

Angelman syndrome due to maternal 15q11q13 deletion

Angelman syndrome due to paternal uniparental disomy of chromosome 15

Angiocentric glioma

Angioosteohypertrophic syndrome

Angiosarcoma

Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome

Aniridia-absent patella syndrome

Aniridia-cerebellar ataxia-intellectual disability syndrome

Aniridia-renal agenesis-psychomotor retardation syndrome

Ankyloblepharon filiforme adnatum-imperforate anus syndrome

Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome

Annular epidermolytic ichthyosis

Anoctamin-5-related limb-girdle muscular dystrophy R12

Anodontia

Anomalous aortic origin of coronary artery

Anomalous aortic origin of the left coronary artery

Anomalous aortic origin of the right coronary artery

Anomalous origin of coronary artery from the pulmonary artery

Anomaly of the coronary ostia

Anomaly of the mitral subvalvular apparatus

Anomaly of the tricuspid subvalvular apparatus

Anophthalmia plus syndrome

Anophthalmia/microphthalmia-esophageal atresia syndrome

Anorectal malformation

Antenatal multiminicore disease with arthrogryposis multiplex congenita

Anterior urethral valve

Anterior uveitis

Anti-glomerular basement membrane disease

Anti-neutrophil cytoplasmic antibody-associated vasculitis

Anti-p200 pemphigoid

Antiphospholipid syndrome

Antisynthetase syndrome

Antley-Bixler syndrome

Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis

Aorta coarctation

Aortic arch defects

Aortic arch interruption

Aortic malformation

Aorto-left ventricular tunnel

Aorto-ventricular tunnel

APC-related attenuated familial adenomatous polyposis

Apert syndrome

Aplastic anemia-intellectual disability-dwarfism syndrome

Aquagenic palmoplantar keratoderma

Arginine vasopressin deficiency

Arginine vasopressin resistance

Argininemia

Argininosuccinic aciduria

Arnold-Chiari malformation type I

Aromatase deficiency

Aromatic L-amino acid decarboxylase deficiency

Arterial duct anomaly

Arterial tortuosity syndrome

Arthrochalasia Ehlers-Danlos syndrome

Arthrogryposis multiplex congenita

Arthrogryposis multiplex congenita-whistling face syndrome

Arthrogryposis-anterior horn cell disease syndrome

Arthrogryposis-hyperkeratosis syndrome, lethal form

Arthrogryposis-renal dysfunction-cholestasis syndrome

ARX-related epileptic encephalopathy

Asbestos intoxication

Ascending aorta anomaly

Aseptic abscess syndrome

Aspartylglucosaminuria

Aspergillosis

Astroblastoma

Astrocytoma

Ataxia neuropathy spectrum

Ataxia with vitamin E deficiency

Ataxia-deafness-intellectual disability syndrome

Ataxia-hypogonadism-choroidal dystrophy syndrome

Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome

Ataxia-oculomotor apraxia type 1

Ataxia-oculomotor apraxia type 4

Ataxia-pancytopenia syndrome

Ataxia-photosensitivity-short stature syndrome

Ataxia-tapetoretinal degeneration syndrome

Ataxia-telangiectasia

Ataxia-telangiectasia variant

Ataxia-telangiectasia-like disorder

Atelosteogenesis type I

Atelosteogenesis type II

Atelosteogenesis type III

Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome

Athyreosis

Atresia of urethra

Atrial appendage anomaly

Atrial septal aneurysm

Atrial septal defect, coronary sinus type

Atrial septal defect, ostium primum type

Atrial septal defect, ostium secundum type

Atrial septal defect, sinus venosus type

Atrioventricular septal defect

Atrioventricular valve anomaly

Attenuated Chédiak-Higashi syndrome

Attenuated familial adenomatous polyposis

ATTRV122I amyloidosis

ATTRV30M amyloidosis

Atypical autism

Atypical Gaucher disease due to saposin C deficiency

Atypical glycine encephalopathy

Atypical hemolytic uremic syndrome

Atypical hemolytic uremic syndrome with anti-factor H antibodies

Atypical hemolytic uremic syndrome with complement gene abnormality

Atypical juvenile parkinsonism

Atypical papilloma of choroid plexus

Atypical progressive supranuclear palsy syndrome

Atypical Rett syndrome

Atypical teratoid rhabdoid tumor

Atypical Timothy syndrome

Auditory neuropathy-optic atrophy syndrome

Autoimmune hemolytic anemia

Autoimmune hemolytic anemia, cold type

Autoimmune hemolytic anemia, warm type

Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome due to TPP2 deficiency

Autoimmune hepatitis

Autoimmune hepatitis type 1

Autoimmune hepatitis type 2

Autoimmune hypoparathyroidism

Autoimmune interstitial lung disease-arthritis syndrome

Autoimmune lymphoproliferative syndrome

Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency

Autoimmune lymphoproliferative syndrome-recurrent viral infections due to CASP8 deficiency

Autoimmune pancreatitis

Autoimmune pancreatitis type 1

Autoimmune pancreatitis type 2

Autoimmune polyendocrinopathy

Autoimmune polyendocrinopathy type 1

Autoimmune polyendocrinopathy type 2

Autoimmune pulmonary alveolar proteinosis

Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation

Autoinflammatory syndrome

Autoinflammatory syndrome with acne and/or hidradenitis suppurativa

Autoinflammatory syndrome with immune deficiency

Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis

Autosomal dominant adult-onset proximal spinal muscular atrophy

Autosomal dominant Alport syndrome

Autosomal dominant aplasia and myelodysplasia

Autosomal dominant brachyolmia

Autosomal dominant centronuclear myopathy

Autosomal dominant cerebellar ataxia

Autosomal dominant cerebellar ataxia type I

Autosomal dominant cerebellar ataxia type II

Autosomal dominant cerebellar ataxia type III

Autosomal dominant cerebellar ataxia type IV

Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome

Autosomal dominant Charcot-Marie-Tooth disease type 2

Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation

Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation

Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation

Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons

Autosomal dominant Charcot-Marie-Tooth disease type 2A1

Autosomal dominant Charcot-Marie-Tooth disease type 2A2

Autosomal dominant Charcot-Marie-Tooth disease type 2B

Autosomal dominant Charcot-Marie-Tooth disease type 2C

Autosomal dominant Charcot-Marie-Tooth disease type 2D

Autosomal dominant Charcot-Marie-Tooth disease type 2DD

Autosomal dominant Charcot-Marie-Tooth disease type 2E

Autosomal dominant Charcot-Marie-Tooth disease type 2F

Autosomal dominant Charcot-Marie-Tooth disease type 2G

Autosomal dominant Charcot-Marie-Tooth disease type 2I

Autosomal dominant Charcot-Marie-Tooth disease type 2K

Autosomal dominant Charcot-Marie-Tooth disease type 2L

Autosomal dominant Charcot-Marie-Tooth disease type 2M

Autosomal dominant Charcot-Marie-Tooth disease type 2N

Autosomal dominant Charcot-Marie-Tooth disease type 2O

Autosomal dominant Charcot-Marie-Tooth disease type 2Q

Autosomal dominant Charcot-Marie-Tooth disease type 2U

Autosomal dominant Charcot-Marie-Tooth disease type 2V

Autosomal dominant Charcot-Marie-Tooth disease type 2W

Autosomal dominant Charcot-Marie-Tooth disease type 2Y

Autosomal dominant Charcot-Marie-Tooth disease type 2Z

Autosomal dominant childhood-onset proximal spinal muscular atrophy

Autosomal dominant complex spastic paraplegia

Autosomal dominant congenital benign spinal muscular atrophy

Autosomal dominant cutis laxa

Autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome

Autosomal dominant distal hereditary motor neuropathy

Autosomal dominant distal renal tubular acidosis

Autosomal dominant dopa-responsive dystonia

Autosomal dominant Emery-Dreifuss muscular dystrophy

Autosomal dominant epidermolytic ichthyosis

Autosomal dominant epilepsy with auditory features

Autosomal dominant focal dystonia, DYT25 type

Autosomal dominant generalized dystrophic epidermolysis bullosa

Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form

Autosomal dominant generalized epidermolysis bullosa simplex, severe form

Autosomal dominant hereditary axonal motor and sensory neuropathy

Autosomal dominant hereditary demyelinating motor and sensory neuropathy

Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency

Autosomal dominant hyperinsulinism due to Kir6.2 deficiency

Autosomal dominant hyperinsulinism due to SUR1 deficiency

Autosomal dominant hypocalcemia

Autosomal dominant hypohidrotic ectodermal dysplasia

Autosomal dominant hypophosphatemic rickets

Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome

Autosomal dominant intellectual disability-craniofacial dysmorphism-macrocephaly-hypotonia syndrome due to H1-4 mutation

Autosomal dominant intermediate Charcot-Marie-Tooth disease

Autosomal dominant intermediate Charcot-Marie-Tooth disease type A

Autosomal dominant intermediate Charcot-Marie-Tooth disease type B

Autosomal dominant intermediate Charcot-Marie-Tooth disease type C

Autosomal dominant intermediate Charcot-Marie-Tooth disease type D

Autosomal dominant intermediate Charcot-Marie-Tooth disease type E

Autosomal dominant intermediate Charcot-Marie-Tooth disease type F

Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain

Autosomal dominant Kenny-Caffey syndrome

Autosomal dominant limb-girdle muscular dystrophy

Autosomal dominant limb-girdle muscular dystrophy type 1A

Autosomal dominant macrothrombocytopenia

Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency

Autosomal dominant mitochondrial myopathy with exercise intolerance

Autosomal dominant nocturnal frontal lobe epilepsy

Autosomal dominant non-syndromic intellectual disability

Autosomal dominant optic atrophy

Autosomal dominant optic atrophy and cataract

Autosomal dominant optic atrophy and peripheral neuropathy

Autosomal dominant optic atrophy plus syndrome

Autosomal dominant optic atrophy, classic form

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 popliteal pterygium syndrome

Autosomal dominant primary hypomagnesemia with hypocalciuria

Autosomal dominant progressive external ophthalmoplegia

Autosomal dominant proximal renal tubular acidosis

Autosomal dominant proximal spinal muscular atrophy

Autosomal dominant pure spastic paraplegia

Autosomal dominant Robinow syndrome

Autosomal dominant severe congenital neutropenia

Autosomal dominant slowed nerve conduction velocity

Autosomal dominant spastic ataxia

Autosomal dominant spastic ataxia type 1

Autosomal dominant spastic paraplegia type 10

Autosomal dominant spastic paraplegia type 12

Autosomal dominant spastic paraplegia type 13

Autosomal dominant spastic paraplegia type 17

Autosomal dominant spastic paraplegia type 19

Autosomal dominant spastic paraplegia type 29

Autosomal dominant spastic paraplegia type 3

Autosomal dominant spastic paraplegia type 31

Autosomal dominant spastic paraplegia type 36

Autosomal dominant spastic paraplegia type 37

Autosomal dominant spastic paraplegia type 38

Autosomal dominant spastic paraplegia type 4

Autosomal dominant spastic paraplegia type 41

Autosomal dominant spastic paraplegia type 42

Autosomal dominant spastic paraplegia type 6

Autosomal dominant spastic paraplegia type 73

Autosomal dominant spastic paraplegia type 8

Autosomal dominant spastic paraplegia type 9A

Autosomal dominant spastic paraplegia type 9B

Autosomal dominant thrombocytopenia with platelet secretion defect

Autosomal dominant tubulointerstitial kidney disease

Autosomal erythropoietic protoporphyria

Autosomal ichthyosis syndrome

Autosomal ichthyosis syndrome with fatal disease course

Autosomal ichthyosis syndrome with other associated signs

Autosomal ichthyosis syndrome with prominent hair abnormalities

Autosomal ichthyosis syndrome with prominent neurologic signs

Autosomal recessive Alport syndrome

Autosomal recessive ataxia due to PEX10 deficiency

Autosomal recessive ataxia due to PEX16 deficiency

Autosomal recessive ataxia due to PEX2 deficiency

Autosomal recessive ataxia due to ubiquinone deficiency

Autosomal recessive ataxia, Beauce type

Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect

Autosomal recessive axonal hereditary motor and sensory neuropathy

Autosomal recessive axonal neuropathy with neuromyotonia

Autosomal recessive bestrophinopathy

Autosomal recessive centronuclear myopathy

Autosomal recessive cerebellar ataxia

Autosomal recessive cerebellar ataxia due to a DNA repair defect

Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency

Autosomal recessive cerebellar ataxia due to STUB1 deficiency

Autosomal recessive cerebellar ataxia with late-onset spasticity

Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome

Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency

Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency

Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency

Autosomal recessive cerebellar ataxia-movement disorder syndrome

Autosomal recessive cerebellar ataxia-psychomotor delay syndrome

Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome

Autosomal recessive cerebelloparenchymal disorder type 3

Autosomal recessive Charcot-Marie-Tooth disease type 2X

Autosomal recessive Charcot-Marie-Tooth disease with hoarseness

Autosomal recessive complex spastic paraplegia

Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction

Autosomal recessive congenital cerebellar ataxia

Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency

Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency

Autosomal recessive congenital ichthyosis

Autosomal recessive cutis laxa type 1

Autosomal recessive cutis laxa type 2

Autosomal recessive cutis laxa type 2, classic type

Autosomal recessive cutis laxa type 2A

Autosomal recessive degenerative and progressive cerebellar ataxia

Autosomal recessive distal hereditary motor neuropathy

Autosomal recessive distal osteolysis syndrome

Autosomal recessive distal renal tubular acidosis

Autosomal recessive dopa-responsive dystonia

Autosomal recessive Emery-Dreifuss muscular dystrophy

Autosomal recessive epidermolytic ichthyosis

Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form

Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form

Autosomal recessive generalized epidermolysis bullosa simplex

Autosomal recessive hereditary demyelinating motor and sensory neuropathy

Autosomal recessive hyper-IgE syndrome due to ZNF341 deficiency

Autosomal recessive hyperinsulinism due to Kir6.2 deficiency

Autosomal recessive hyperinsulinism due to SUR1 deficiency

Autosomal recessive hypohidrotic ectodermal dysplasia

Autosomal recessive infantile hypercalcemia

Autosomal recessive intermediate Charcot-Marie-Tooth disease

Autosomal recessive intermediate Charcot-Marie-Tooth disease type A

Autosomal recessive intermediate Charcot-Marie-Tooth disease type B

Autosomal recessive intermediate Charcot-Marie-Tooth disease type C

Autosomal recessive intermediate Charcot-Marie-Tooth disease type D

Autosomal recessive isolated optic atrophy

Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy

Autosomal recessive limb-girdle muscular dystrophy

Autosomal recessive limb-girdle muscular dystrophy, type 28

Autosomal recessive lower motor neuron disease with childhood onset

Autosomal recessive malignant osteopetrosis

Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency

Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency

Autosomal recessive metabolic cerebellar ataxia

Autosomal recessive multiple pterygium syndrome

Autosomal recessive myogenic arthrogryposis multiplex congenita

Autosomal recessive non-syndromic intellectual disability

Autosomal recessive optic atrophy, OPA7 type

Autosomal recessive polycystic kidney disease

Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity

Autosomal recessive primary microcephaly

Autosomal recessive progressive external ophthalmoplegia

Autosomal recessive proximal renal tubular acidosis

Autosomal recessive pure spastic paraplegia

Autosomal recessive severe congenital neutropenia due to CSF3R deficiency

Autosomal recessive sideroblastic anemia

Autosomal recessive spastic ataxia

Autosomal recessive spastic ataxia of Charlevoix-Saguenay

Autosomal recessive spastic ataxia with leukoencephalopathy

Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome

Autosomal recessive spastic paraplegia type 11

Autosomal recessive spastic paraplegia type 14

Autosomal recessive spastic paraplegia type 15

Autosomal recessive spastic paraplegia type 20

Autosomal recessive spastic paraplegia type 21

Autosomal recessive spastic paraplegia type 23

Autosomal recessive spastic paraplegia type 24

Autosomal recessive spastic paraplegia type 25

Autosomal recessive spastic paraplegia type 26

Autosomal recessive spastic paraplegia type 27

Autosomal recessive spastic paraplegia type 28

Autosomal recessive spastic paraplegia type 32

Autosomal recessive spastic paraplegia type 35

Autosomal recessive spastic paraplegia type 39

Autosomal recessive spastic paraplegia type 43

Autosomal recessive spastic paraplegia type 44

Autosomal recessive spastic paraplegia type 45

Autosomal recessive spastic paraplegia type 46

Autosomal recessive spastic paraplegia type 48

Autosomal recessive spastic paraplegia type 53

Autosomal recessive spastic paraplegia type 54

Autosomal recessive spastic paraplegia type 55

Autosomal recessive spastic paraplegia type 56

Autosomal recessive spastic paraplegia type 57

Autosomal recessive spastic paraplegia type 59

Autosomal recessive spastic paraplegia type 5A

Autosomal recessive spastic paraplegia type 60

Autosomal recessive spastic paraplegia type 61

Autosomal recessive spastic paraplegia type 62

Autosomal recessive spastic paraplegia type 63

Autosomal recessive spastic paraplegia type 64

Autosomal recessive spastic paraplegia type 66

Autosomal recessive spastic paraplegia type 67

Autosomal recessive spastic paraplegia type 69

Autosomal recessive spastic paraplegia type 70

Autosomal recessive spastic paraplegia type 71

Autosomal recessive spastic paraplegia type 74

Autosomal recessive spastic paraplegia type 75

Autosomal recessive spastic paraplegia type 76

Autosomal recessive spastic paraplegia type 77

Autosomal recessive spastic paraplegia type 84

Autosomal recessive spastic paraplegia type 9B

Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome

Autosomal recessive spondylocostal dysostosis

Autosomal recessive Stickler syndrome

Autosomal recessive syndromic cerebellar ataxia

Autosomal semi-dominant severe lipodystrophic laminopathy

Autosomal spastic paraplegia type 18

Autosomal spastic paraplegia type 30

Autosomal spastic paraplegia type 58

Autosomal spastic paraplegia type 72

Autosomal systemic lupus erythematosus

Autosomal thrombocytopenia with normal platelets

Avian influenza

Axenfeld-Rieger syndrome

AXIN2-related attenuated familial adenomatous polyposis

Axonal hereditary motor and sensory neuropathy

Axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy

Aymé-Gripp syndrome

Azygos continuation of the inferior vena cava

B-cell chronic lymphocytic leukemia

B-cell non-Hodgkin lymphoma

B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome

B4GALT1-CDG

B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome

Babesiosis

Bacterial susceptibility due to TLR signaling pathway deficiency

Bainbridge-Ropers syndrome

Baller-Gerold syndrome

Bamforth-Lazarus syndrome

Bannayan-Riley-Ruvalcaba syndrome

BAP1-related tumor predisposition syndrome

Baraitser-Winter cerebrofrontofacial syndrome

Bardet-Biedl syndrome

Barth syndrome

Bartter syndrome

Bartter syndrome type 1

Bartter syndrome type 2

Bartter syndrome type 3

Bartter syndrome type 4

Bartter syndrome type 5

Bathing suit ichthyosis

Becker muscular dystrophy

Beckwith-Wiedemann syndrome

Beckwith-Wiedemann syndrome due to 11p15 microdeletion

Beckwith-Wiedemann syndrome due to 11p15 microduplication

Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion

Beckwith-Wiedemann syndrome due to CDKN1C mutation

Beckwith-Wiedemann syndrome due to imprinting defect of 11p15

Beckwith-Wiedemann syndrome due to NSD1 mutation

Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11

Behavioral variant of frontotemporal dementia

Behçet disease

Benign epithelial tumor of salivary glands

Benign nocturnal alternating hemiplegia of childhood

Benign paroxysmal torticollis of infancy

Benign recurrent intrahepatic cholestasis

Benign recurrent intrahepatic cholestasis type 1

Benign recurrent intrahepatic cholestasis type 2

BENTA disease

Bernard-Soulier syndrome

Best vitelliform macular dystrophy

Beta-ketothiolase deficiency

Beta-propeller protein-associated neurodegeneration

Beta-sarcoglycan-related limb-girdle muscular dystrophy R4

Beta-thalassemia

Beta-thalassemia and related diseases

Beta-thalassemia associated with another hemoglobin anomaly

Beta-thalassemia intermedia

Beta-thalassemia major

Beta-thalassemia with other manifestations

Beta-thalassemia-X-linked thrombocytopenia syndrome

Bethlem muscular dystrophy

BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy

Bickerstaff brainstem encephalitis

Bicornuate uterus

Bietti crystalline dystrophy

Bifid uvula

Bilateral generalized polymicrogyria

Bilateral massive adrenal hemorrhage

Bilateral multicystic dysplastic kidney

Bilateral perisylvian polymicrogyria

Bilateral striopallidodentate calcinosis

Bile acid synthesis defect with cholestasis and malabsorption

Biotin-thiamine-responsive basal ganglia disease

Biotinidase deficiency

Birdshot chorioretinopathy

Birt-Hogg-Dubé syndrome

Bladder exstrophy

Blau syndrome

Bleeding diathesis due to a collagen receptor defect

Bleeding diathesis due to glycoprotein VI deficiency

Bleeding diathesis due to integrin alpha2-beta1 deficiency

Bleeding diathesis due to thromboxane synthesis deficiency

Bleeding disorder due to CalDAG-GEFI deficiency

Bleeding disorder due to P2Y12 defect

Bleeding disorder in hemophilia A carriers

Bleeding disorder in hemophilia B carriers

Blepharo-cheilo-odontic syndrome

Blepharophimosis-intellectual disability syndrome, MKB type

Blepharophimosis-intellectual disability syndrome, Ohdo type

Blepharophimosis-intellectual disability syndrome, SBBYS type

Blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome

Blepharophimosis-ptosis-epicanthus inversus syndrome

Blepharophimosis-ptosis-epicanthus inversus syndrome type 1

Blepharospasm-oromandibular dystonia syndrome

Bloom syndrome

Blue cone monochromatism

Blue rubber bleb nevus

Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency

Bohring-Opitz syndrome

Bone sarcoma

Boomerang dysplasia

BOR syndrome

Borjeson-Forssman-Lehmann syndrome

Borna virus encephalitis

Botulism

Bowen-Conradi syndrome

Brachydactyly type A1

Brachydactyly type A2

Brachydactyly type A4

Brachydactyly type B

Brachydactyly type C

Brachydactyly type E

Brachydactyly-syndactyly, Zhao type

Brachyolmia-amelogenesis imperfecta syndrome

Brachytelephalangic chondrodysplasia punctata

Braddock syndrome

Brain dopamine-serotonin vesicular transport disease

Brain-lung-thyroid syndrome

Branchio-oculo-facial syndrome

Brittle cornea syndrome

Bronchopulmonary dysplasia

Brooke-Spiegler syndrome

Brugada syndrome

Budd-Chiari syndrome

Buerger disease

Bulbospinal muscular atrophy

Bulbospinal muscular atrophy of adult

Bulbospinal muscular atrophy of childhood

Bullous diffuse cutaneous mastocytosis

Bullous pemphigoid

Bullous pyoderma gangrenosum

Burkitt lymphoma

Burn-McKeown syndrome

Butterfly-shaped pigment dystrophy

BVES-related limb-girdle muscular dystrophy

C3 glomerulopathy

CACH syndrome

CADINS disease

Caffey disease

Calpain-3-related limb-girdle muscular dystrophy D4

Calpain-3-related limb-girdle muscular dystrophy R1

CAMOS syndrome

Campomelic dysplasia

Camurati-Engelmann disease

Canavan disease

Cantú syndrome

Capillary malformation-arteriovenous malformation

Carbamoyl-phosphate synthetase 1 deficiency

Carcinofibroma of the corpus uteri

Carcinoid syndrome

Carcinoma of esophagus

Carcinoma of gallbladder and extrahepatic biliary tract

Carcinosarcoma of the cervix uteri

Carcinosarcoma of the corpus uteri

Cardiac anomalies-heterotaxy syndrome

Cardiac diverticulum

Cardiac-urogenital syndrome

Cardiac-valvular Ehlers-Danlos syndrome

Cardiocranial syndrome, Pfeiffer type

Cardiofaciocutaneous syndrome

Carney complex

Carnitine palmitoyl transferase 1A deficiency

Carnitine palmitoyl transferase II deficiency, myopathic form

Carnitine palmitoyl transferase II deficiency, neonatal form

Carnitine palmitoyl transferase II deficiency, severe infantile form

Carnitine palmitoyltransferase II deficiency

Carnitine-acylcarnitine translocase deficiency

Caroli disease

Caroli syndrome

Carpenter syndrome

Cartilage-hair hypoplasia

Carvajal syndrome

Castleman disease

Cat-eye syndrome

Cataract-ataxia-deafness syndrome

Cataract-intellectual disability-anal atresia-urinary defects syndrome

Cataract-intellectual disability-hypogonadism syndrome

Catastrophic antiphospholipid syndrome

Catecholaminergic polymorphic ventricular tachycardia

Cathepsin A-related arteriopathy-strokes-leukoencephalopathy

Caudal regression syndrome

Caudal regression-sirenomelia spectrum

CCDC115-CDG

CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome

CDKL5-deficiency disorder

CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome

CEDNIK syndrome

Celiac disease-epilepsy-cerebral calcification syndrome

CELSR1-related late-onset primary lymphedema

Central areolar choroidal dystrophy

Central cloudy dystrophy of François

Central congenital hypothyroidism

Central core disease

Central nervous system embryonal tumor

Central neurocytoma

Centronuclear myopathy

Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome

Cerebellar ataxia, Cayman type

Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome

Cerebellar ataxia-hypogonadism syndrome

Cerebellar liponeurocytoma

Cerebral Amyloid Angiopathy

Cerebral arteriovenous malformation

Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy

Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy

Cerebral diseases of vascular origin with epilepsy

Cerebral malformation with epilepsy

Cerebral organic aciduria

Cerebral sinovenous thrombosis

Cerebrofacial arteriovenous metameric syndrome

Cerebrotendinous xanthomatosis

Cernunnos-XLF deficiency

Cervical aortic arch

Channelopathy with epilepsy

Chaotic conus spinal cord lipoma

Char syndrome

Charcot-Marie-Tooth disease type 1

Charcot-Marie-Tooth disease type 1A

Charcot-Marie-Tooth disease type 1B

Charcot-Marie-Tooth disease type 1C

Charcot-Marie-Tooth disease type 1D

Charcot-Marie-Tooth disease type 1E

Charcot-Marie-Tooth disease type 1F

Charcot-Marie-Tooth disease type 2B1

Charcot-Marie-Tooth disease type 2B2

Charcot-Marie-Tooth disease type 2B5

Charcot-Marie-Tooth disease type 2H

Charcot-Marie-Tooth disease type 2P

Charcot-Marie-Tooth disease type 2R

Charcot-Marie-Tooth disease type 2S

Charcot-Marie-Tooth disease type 2T

Charcot-Marie-Tooth disease type 4

Charcot-Marie-Tooth disease type 4A

Charcot-Marie-Tooth disease type 4B1

Charcot-Marie-Tooth disease type 4B2

Charcot-Marie-Tooth disease type 4B3

Charcot-Marie-Tooth disease type 4C

Charcot-Marie-Tooth disease type 4D

Charcot-Marie-Tooth disease type 4E

Charcot-Marie-Tooth disease type 4F

Charcot-Marie-Tooth disease type 4G

Charcot-Marie-Tooth disease type 4H

Charcot-Marie-Tooth disease type 4J

Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome

Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy

CHARGE syndrome

CHD4-related neurodevelopmental disorder

CHD8 overgrowth syndrome

Cherubism

Chikungunya

Chilblain lupus

CHILD syndrome

Childhood disintegrative disorder

Childhood occipital visual epilepsy

Childhood-onset autosomal recessive myopathy with external ophthalmoplegia

Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia

Childhood-onset epilepsy syndrome

Childhood-onset hypophosphatasia

Childhood-onset nemaline myopathy

Childhood-onset schizophrenia

Childhood-onset spasticity with hyperglycinemia

Childhood-onset Steinert myotonic dystrophy

Choanal atresia

Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome

Cholangiocarcinoma

Cholera

Cholesterol-ester transfer protein deficiency

Cholesteryl ester storage disease

Chondrodysplasia punctata

Chondrodysplasia punctata, tibial-metacarpal type

Chondrodysplasia punctata, Toriello type

Chondrosarcoma

Chordoid glioma

Chordoma

Choreoacanthocytosis

Choriocarcinoma of the central nervous system

Choroid plexus carcinoma

Choroid plexus tumor

Choroideremia

Christianson syndrome

Chromophobe renal cell carcinoma

Chromosomal anomaly with epilepsy as a major feature

Chromosome Y microdeletion

Chronic beryllium disease

Chronic cutaneous lupus erythematosus

Chronic encephalitis

Chronic eosinophilic leukemia

Chronic graft versus host disease

Chronic granulomatous disease

Chronic hiccup

Chronic inflammatory demyelinating polyneuropathy

Chronic intestinal pseudoobstruction

Chronic mast cell leukemia

Chronic mucocutaneous candidiasis

Chronic myeloid leukemia

Chronic myelomonocytic leukemia

Chronic myeloproliferative disease, unclassifiable

Chronic neurovisceral acid sphingomyelinase deficiency

Chronic neutrophilic leukemia

Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis

Chronic pneumonitis of infancy

Chronic primary adrenal insufficiency

Chronic respiratory distress with surfactant metabolism deficiency

Chronic thromboembolic pulmonary hypertension

Chronic visceral acid sphingomyelinase deficiency

CHST3-related skeletal dysplasia

Chylomicron retention disease

Chédiak-Higashi syndrome

CIDEC-related familial partial lipodystrophy

CINCA syndrome

Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome

Citrin deficiency

Citrullinemia

Citrullinemia type I

Citrullinemia type II

CK syndrome

CLAPO syndrome

Class I glucose-6-phosphate dehydrogenase deficiency

Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form

Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form

Classic congenital lipoid adrenal hyperplasia due to STAR deficency

Classic galactosemia

Classic glucose transporter type 1 deficiency syndrome

Classic hairy cell leukemia

Classic Hodgkin lymphoma

Classic Hodgkin lymphoma, lymphocyte-depleted type

Classic Hodgkin lymphoma, lymphocyte-rich type

Classic Hodgkin lymphoma, mixed cellularity type

Classic Hodgkin lymphoma, nodular sclerosis type

Classic maple syrup urine disease

Classic medulloblastoma

Classic multiminicore myopathy

Classic mycosis fungoides

Classic neuroendocrine tumor of appendix

Classic organic aciduria

Classic pantothenate kinase-associated neurodegeneration

Classic phenylketonuria

Classic progressive supranuclear palsy syndrome

Classic pyoderma gangrenosum

Classic stiff person syndrome

Classical dermatomyositis

Classical Ehlers-Danlos syndrome

Classical-like Ehlers-Danlos syndrome type 1

Classical-like Ehlers-Danlos syndrome type 2

CLCN4-related X-linked intellectual disability syndrome

Clear cell adenocarcinoma of the ovary

Clear cell papillary renal cell carcinoma

Clear cell renal carcinoma

Cleft hard palate

Cleft lip and alveolus

Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome

Cleft lip with or without cleft palate

Cleft lip/palate

Cleft mitral valve

Cleft palate

Cleft palate-congenital heart defect-intellectual disability syndrome due to 15q14 microdeletion

Cleft velum

Cleidocranial dysplasia

Climatic droplet keratopathy

CLN12 disease

Cloacal exstrophy

Closed spinal dysraphism

CLOVES syndrome

CNTNAP2-related developmental and epileptic encephalopathy

COASY protein-associated neurodegeneration

Coats disease

Coccidioidomycosis

Cockayne syndrome

Cockayne syndrome type 1

Cockayne syndrome type 2

Cockayne syndrome type 3

Coenzyme Q10 deficiency

Coffin-Lowry syndrome

Coffin-Siris syndrome

COFS syndrome

COG1-CDG

COG2-CDG

COG4-CDG

COG5-CDG

COG6-CGD

COG7-CDG

COG8-CDG

Cogan syndrome

Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome

Cohen syndrome

COL4A1 or COL4A2-related cerebral small vessel disease

COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendency

COL4A1 or COL4A2-related cerebral small vessel disease with ischemic tendency

COL4A1/2-related familial vascular leukoencephalopathy

Cold agglutinin disease

Cold-induced sweating syndrome

Cold-induced sweating syndrome-hyperthermia spectrum

Collagen VI-related congenital muscular dystrophy

Collagen-related glomerular basement membrane disease

Collecting duct carcinoma

Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome

Colobomatous microphthalmia

Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome

Colobomatous microphthalmia-rhizomelic dysplasia syndrome

Color-vision disease

Colorado tick fever

Combined deficiency of factor V and factor VIII

Combined deficiency of factor VII and factor X

Combined dystonia

Combined immunodeficiency due to CARD11 deficiency

Combined immunodeficiency due to CARMIL2 deficiency

Combined immunodeficiency due to CD27 deficiency

Combined immunodeficiency due to CD3gamma deficiency

Combined immunodeficiency due to CD70 deficiency

Combined immunodeficiency due to CRAC channel dysfunction

Combined immunodeficiency due to DOCK2 deficiency

Combined immunodeficiency due to DOCK8 deficiency

Combined immunodeficiency due to FCHO1 deficiency

Combined immunodeficiency due to GINS1 deficiency

Combined immunodeficiency due to IL21R deficiency

Combined immunodeficiency due to ITK deficiency

Combined immunodeficiency due to LRBA deficiency

Combined immunodeficiency due to MALT1 deficiency

Combined immunodeficiency due to Moesin deficiency

Combined immunodeficiency due to ORAI1 deficiency

Combined immunodeficiency due to OX40 deficiency

Combined immunodeficiency due to partial RAG1 deficiency

Combined immunodeficiency due to RELA haploinsufficiency

Combined immunodeficiency due to STIM1 deficiency

Combined immunodeficiency due to STK4 deficiency

Combined immunodeficiency due to TFRC deficiency

Combined immunodeficiency due to ZAP70 deficiency

Combined immunodeficiency with facio-oculo-skeletal anomalies

Combined immunodeficiency with granulomatosis

Combined immunodeficiency-enteropathy spectrum

Combined malonic and methylmalonic acidemia

Combined oxidative phosphorylation defect type 14

Combined oxidative phosphorylation defect type 17

Combined oxidative phosphorylation defect type 23

Combined pituitary hormone deficiencies, genetic forms

Combined pulmonary fibrosis-emphysema syndrome

Combined T and B cell immunodeficiency

Common arterial trunk

Common cystic lymphatic malformation

Common variable immunodeficiency

Complement component 3 deficiency

Complete androgen insensitivity syndrome

Complete atrioventricular septal defect

Complete atrioventricular septal defect with ventricular hypoplasia

Complete atrioventricular septal defect without ventricular hypoplasia

Complete atrioventricular septal defect-tetralogy of Fallot

Complete hydatidiform mole

Complex hereditary spastic paraplegia

Complex regional pain syndrome

Complex regional pain syndrome type 1

Complex regional pain syndrome type 2

Composite hemangioendothelioma

Cone rod dystrophy

Congenital adrenal hyperplasia

Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency

Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency

Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency

Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency

Congenital alpha2-antiplasmin deficiency

Congenital alveolar capillary dysplasia

Congenital amegakaryocytic thrombocytopenia

Congenital anomaly of hepatic vein

Congenital anomaly of superior vena cava

Congenital anomaly of the coronary sinus

Congenital anomaly of the great arteries

Congenital anomaly of the great veins

Congenital anomaly of the inferior vena cava

Congenital anomaly of the tricuspid valve chordae

Congenital aortic valve atresia

Congenital aortic valve dysplasia

Congenital aortic valve stenosis

Congenital aortopulmonary window

Congenital autosomal recessive small-platelet thrombocytopenia

Congenital axonal neuropathy with encephalopathy

Congenital bilateral absence of vas deferens

Congenital bilateral megacalycosis

Congenital bile acid synthesis defect

Congenital bile acid synthesis defect type 1

Congenital bile acid synthesis defect type 2

Congenital bile acid synthesis defect type 3

Congenital bile acid synthesis defect type 4

Congenital cataract-hearing loss-severe developmental delay syndrome

Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome

Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome

Congenital cataracts-facial dysmorphism-neuropathy syndrome

Congenital central hypoventilation syndrome

Congenital cerebellar ataxia due to RNU12 mutation

Congenital chylothorax

Congenital complete agenesis of pericardium

Congenital contractural arachnodactyly

Congenital coronary artery aneurysm

Congenital diaphragmatic hernia

Congenital disorder of glycosylation

Congenital disorder of glycosylation with cardiac malformation as a major feature

Congenital disorder of glycosylation with epilepsy as a major feature

Congenital dyserythropoietic anemia

Congenital dyserythropoietic anemia type I

Congenital dyserythropoietic anemia type II

Congenital dyserythropoietic anemia type III

Congenital dyserythropoietic anemia type IV

Congenital enterovirus infection

Congenital Epstein-Barr virus infection

Congenital erythropoietic porphyria

Congenital factor II deficiency

Congenital factor V deficiency

Congenital factor VII deficiency

Congenital factor X deficiency

Congenital factor XI deficiency

Congenital factor XIII deficiency

Congenital fiber-type disproportion myopathy

Congenital fibrinogen deficiency

Congenital fibrosis of extraocular muscles

Congenital functional phagocyte defect

Congenital generalized lipodystrophy

Congenital Gerbode defect

Congenital glaucoma

Congenital glucokinase-related hyperinsulinism

Congenital heart block

Congenital hemangioma

Congenital hereditary endothelial dystrophy type II

Congenital herpes simplex virus infection

Congenital high-molecular-weight kininogen deficiency

Congenital hyperinsulinism due to HNF4A deficiency

Congenital hypogonadotropic hypogonadism

Congenital hypothyroidism

Congenital hypothyroidism due to developmental anomaly

Congenital hypothyroidism due to maternal intake of antithyroid drugs

Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies

Congenital ichthyosiform erythroderma

Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome

Congenital ichthyosis-microcephalus-tetraplegia syndrome

Congenital insensitivity to pain with severe intellectual disability

Congenital insensitivity to pain-anosmia-neuropathic arthropathy

Congenital insensitivity to pain-hyperhidrosis-absence of cutaneous sensory innervation

Congenital intrauterine infection-like syndrome

Congenital isolated ACTH deficiency

Congenital isolated hyperinsulinism

Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type

Congenital left ventricular aneurysm

Congenital lipoid adrenal hyperplasia due to STAR deficency

Consensus statement on the diagnosis, treatment and follow-up of patients with primary adrenal insufficiency

Congenital lobar emphysema

Congenital megacalycosis

Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization

Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome

Congenital mitral malformation

Congenital mitral stenosis

Congenital mitral valve insufficiency and/or stenosis

Congenital multicore myopathy with external ophthalmoplegia

Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies

Congenital muscular dystrophy

Congenital muscular dystrophy due to dystroglycanopathy

Congenital muscular dystrophy due to LMNA mutation

Congenital muscular dystrophy type 1B

Congenital muscular dystrophy with cerebellar involvement

Congenital muscular dystrophy with hyperlaxity

Congenital muscular dystrophy with integrin alpha-7 deficiency

Congenital muscular dystrophy with intellectual disability

Congenital muscular dystrophy with intellectual disability and severe epilepsy

Congenital muscular dystrophy without intellectual disability

Congenital muscular dystrophy, Fukuyama type

Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome

Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome

Congenital myasthenic syndrome

Congenital myasthenic syndromes with glycosylation defect

Congenital myopathy, Paradas type

Congenital myotonia

Congenital nephrotic syndrome, Finnish type

Congenital neutropenia

Congenital neutropenia-combined immunodeficiency due to MKL1 deficiency

Congenital or early infantile CACH syndrome

Congenital panfollicular nevus

Congenital partial agenesis of pericardium

Congenital partial pulmonary venous return anomaly

Congenital patent ductus arteriosus aneurysm

Congenital pericardium anomaly

Congenital plasminogen activator inhibitor type 1 deficiency

Congenital portosystemic shunt

Congenital prekallikrein deficiency

Congenital primary aphakia

Congenital primary lymphedema of Gordon

Congenital primary lymphedema without systemic or visceral involvement

Congenital primary megaureter

Congenital primary megaureter, nonrefluxing and unobstructed form

Congenital primary megaureter, obstructed form

Congenital primary megaureter, refluxing and obstructed form

Congenital primary megaureter, refluxing form

Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome

Congenital pulmonary airway malformation

Congenital pulmonary airway malformation type 0

Congenital pulmonary airway malformation type 1

Congenital pulmonary airway malformation type 2

Congenital pulmonary airway malformation type 3

Congenital pulmonary airway malformation type 4

Congenital pulmonary lymphangiectasia

Congenital pulmonary sequestration

Congenital pulmonary valvar stenosis

Congenital pulmonary vein atresia

Congenital pulmonary veins anomaly

Congenital pulmonary veins atresia or stenosis

Congenital pulmonary venous return anomaly

Congenital reticular ichthyosiform erythroderma

Congenital rubella syndrome

Congenital secondary polycythemia

Congenital short bowel syndrome

Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome

Congenital stationary night blindness

Congenital stenosis of the inferior vena cava

Congenital stromal corneal dystrophy

Congenital supravalvular mitral ring

Congenital systemic veins anomaly

Congenital temporomandibular joint ankylosis

Congenital thrombotic thrombocytopenic purpura

Congenital total pulmonary venous return anomaly

Congenital toxoplasmosis

Congenital tricuspid malformation

Congenital tricuspid stenosis

Congenital tricuspid valve dysplasia

Congenital tufting enteropathy

Congenital unguarded mitral orifice

Congenital urachal anomaly

Congenital varicella syndrome

Congenital vertebral-cardiac-renal anomalies syndrome

Congenital vitamin K-dependent coagulation factors deficiency

Congenital-onset Steinert myotonic dystrophy

Congenitally corrected transposition of the great arteries

Congenitally uncorrected transposition of the great arteries

Congenitally uncorrected transposition of the great arteries with cardiac malformation

Congenitally uncorrected transposition of the great arteries with coarctation

Conjoined twins

Conotruncal heart malformations

Constitutional hemolytic anemia due to acanthocytosis

Constitutional mismatch repair deficiency syndrome

Contractures-developmental delay-Pierre Robin syndrome

Conus spinal cord lipoma

Cor triatriatum dexter

Cor triatriatum sinister

Corneal dystrophy

Corneal dystrophy-perceptive deafness syndrome

Cornelia de Lange syndrome

Corneodermatoosseous syndrome

Coronary arterial fistula

Coronary artery congenital malformation

Coronary ostial stenosis or atresia

Coronary sinus stenosis

Corpus callosum agenesis-neuronopathy syndrome

Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation

Costello syndrome

Cowden syndrome

Cranio-cervical dystonia with laryngeal and upper-limb involvement

Cranioectodermal dysplasia

Craniofacial dysostosis-diaphyseal hyperplasia syndrome

Craniometaphyseal dysplasia

Craniopharyngioma

Craniosynostosis

Craniosynostosis, Boston type

Craniosynostosis, Herrmann-Opitz type

Craniosynostosis, Philadelphia type

Craniosynostosis-dental anomalies

Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome

Craniosynostosis-microretrognathia-severe intellectual disability syndrome

Cree leukoencephalopathy

Crigler-Najjar syndrome

Crigler-Najjar syndrome type 1

Crisponi syndrome

Criss-cross heart

Crouzon syndrome

Crouzon syndrome-acanthosis nigricans syndrome

Cryoglobulinemic vasculitis

Cryptogenic late-onset epileptic spasms

Cryptogenic organizing pneumonia

Currarino syndrome

Curry-Jones syndrome

Cushing disease

Cushing syndrome due to bilateral macronodular adrenocortical disease

Cushing syndrome due to cortisol-producing adrenocortical adenoma

Cushing syndrome due to ectopic ACTH secretion

Cutaneous mastocytoma

Cutaneous mastocytosis

Cutaneous neuroendocrine carcinoma

Cutaneous polyarteritis nodosa

Cutaneous pseudolymphoma

Cutaneous small vessel vasculitis

Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome

Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies

Cutis laxa-Marfanoid syndrome

Cutis marmorata telangiectatica congenita

Cyclic neutropenia

Cystic fibrosis

Cystic leukoencephalopathy without megalencephaly

Cysticercosis

Cystinosis

Cystinuria

Cystinuria type A

Cystinuria type B

Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder

Dysbetalipoproteinemia

Dysembryoplastic neuroepithelial tumor

Dysequilibrium syndrome

Dysferlin-related limb-girdle muscular dystrophy R2

Dyskeratosis congenita

Dysosteosclerosis

Dysostosis with brachydactyly

Dysphagia lusoria

Dysraphic spinal cord lipoma

Dysraphism with stalk

Dystonia 16

Dystonia 28

Dystonia-parkinsonism-hypermanganesemia syndrome

Dystrophic epidermolysis bullosa

Dystrophic epidermolysis bullosa pruriginosa

Ear-patella-short stature syndrome

Early infantile epileptic encephalopathy

Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome due to SOCS1 haploinsufficiency

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 epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome

Early-onset generalized limb-onset dystonia

Early-onset myopathy with fatal cardiomyopathy

Early-onset obesity-hyperphagia-severe developmental delay syndrome

Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome

Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome

Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome

Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome

EAST syndrome

East Texas bleeding disorder

Eastern equine encephalitis

Ebola hemorrhagic fever

Ebstein malformation of the tricuspid valve

Ectasia of the left atrial appendage

Ectasia of the right atrial appendage

Ectodermal dysplasia-blindness syndrome

Ectodermal dysplasia-skin fragility syndrome

Ectopia cordis

Ectopic aldosterone-producing tumor

EDICT syndrome

EEC syndrome

Ehlers-Danlos syndrome

Ehlers-Danlos/osteogenesis imperfecta syndrome

Eisenmenger syndrome

Ellis Van Creveld syndrome

Emanuel syndrome

Embryonal carcinoma

Embryonal carcinoma of the central nervous system

Embryonal rhabdomyosarcoma

Embryonal tumor of neuroepithelial tissue

Emery-Dreifuss muscular dystrophy

Enamel-renal syndrome

Encephalitis

Encephalitis lethargica

Encephalocraniocutaneous lipomatosis

Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome

Encircling double aortic arch

Endemic pemphigus foliaceus

Endocrine-cerebro-osteodysplasia syndrome

Endocrinopathy with congenital hypogonadotropic hypogonadism as a major feature

Endogenous Cushing syndrome

Endometrial stromal sarcoma

Endometrioid carcinoma of ovary

Energy metabolism disorder with epilepsy

Enlarged parietal foramina

Enthesitis-related juvenile idiopathic arthritis

Eosinophilic angiocentric fibrosis

Eosinophilic gastroenteritis

Eosinophilic granulomatosis with polyangiitis

Ependymal tumor

Ependymoma

EPHB4-related lymphatic-related hydrops fetalis

Epidermolysis bullosa acquisita

Epidermolysis bullosa simplex

Epidermolysis bullosa simplex due to BP230 deficiency

Epidermolysis bullosa simplex due to exophilin 5 deficiency

Epidermolysis bullosa simplex with anodontia/hypodontia

Epidermolysis bullosa simplex with circinate migratory erythema

Epidermolysis bullosa simplex with extracutaneous involvement

Epidermolysis bullosa simplex with mottled pigmentation

Epidermolysis bullosa simplex with muscular dystrophy

Epidermolysis bullosa simplex with pyloric atresia

Epidermolysis bullosa simplex without extracutaneous involvement

Epidermolytic nevus

Epignathus

Epilepsy syndrome

Epilepsy-telangiectasia syndrome

Episodic ataxia type 1

Episodic ataxia type 3

Episodic ataxia type 4

Episodic ataxia type 5

Episodic ataxia type 6

Episodic ataxia type 7

Episodic ataxia with slurred speech

Epithelial basement membrane dystrophy

Epithelial recurrent erosion dystrophy

Epithelial tumor of the appendix

Epithelioid hemangioendothelioma

Epithelioid sarcoma

Epithelioid trophoblastic tumor

Epstein-Barr virus-associated gastric carcinoma

Epstein-Barr virus-associated malignant lymphoproliferative disorder

Epstein-Barr virus-positive diffuse large B-cell lymphoma

Erdheim-Chester disease

Erythema multiforme major

Erythrocyte galactose epimerase deficiency

Erythrokeratodermia variabilis

Erythropoietic uroporphyria associated with myeloid malignancy

Esophageal atresia

Essential thrombocythemia

Esthesioneuroblastoma

Ethylmalonic encephalopathy

Evans syndrome

Exercise-induced hyperinsulinism

Exercise-induced malignant hyperthermia

Exfoliative ichthyosis

EXOC6B-related spondyloepimetaphyseal dysplasia with joint laxity

Exposure-related interstitial lung disease

Exstrophy-epispadias complex

Extracutaneous mastocytoma

Extragonadal germ cell tumor

Extragonadal germinoma

Extragonadal non-dysgerminomatous germ cell tumor

Extramammary Paget disease

Extramedullary conus spinal cord lipoma

Extranodal nasal NK/T cell lymphoma

Extrapelvic endometriosis

Extraskeletal Ewing sarcoma

Extraskeletal myxoid chondrosarcoma

Extraventricular neurocytoma

F12-associated cold autoinflammatory syndrome

F12-related hereditary angioedema with normal C1Inh

Fabry disease

Facial diplegia with paresthesias

Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion

Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation

Facial dysmorphism-immunodeficiency-livedo-short stature syndrome

Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome

Facioscapulohumeral dystrophy

Factor V Amsterdam bleeding disorder

Factor V Atlanta bleeding disorder

Factor V short isoforms-related bleeding disorder

FADD-related immunodeficiency

Familial acute necrotizing encephalopathy

Familial adenomatous polyposis

Familial adenomatous polyposis due to 5q22.2 microdeletion

Familial adrenal hypoplasia with absent pituitary luteinizing hormone

Familial afibrinogenemia

Familial Alzheimer-like prion disease

Familial aortic dissection

Familial apolipoprotein C-II deficiency

Familial articular hypermobility syndrome

Familial atrial fibrillation

Familial atypical multiple mole melanoma syndrome

Familial avascular necrosis of femoral head

Familial bicuspid aortic valve

Familial cerebral cavernous malformation

Familial Chilblain lupus

Familial chylomicronemia syndrome

Familial cold urticaria

Familial colorectal cancer Type X

Familial congenital mirror movements

Familial digital arthropathy-brachydactyly

Familial dilated cardiomyopathy

Familial dilated cardiomyopathy with conduction defect due to LMNA mutation

Familial dysautonomia

Familial dysfibrinogenemia

Familial dyskinesia and facial myokymia

Familial encephalopathy with neuroserpin inclusion bodies

Familial exudative vitreoretinopathy

Familial focal epilepsy with variable foci

Familial gestational hyperthyroidism

Familial glucocorticoid deficiency

Familial hemophagocytic lymphohistiocytosis

Familial hyperaldosteronism

Familial hyperaldosteronism type I

Familial hyperaldosteronism type II

Familial hyperaldosteronism type III

Familial hyperinflammatory lymphoproliferative immunodeficiency

Familial hyperinsulinism

Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome

Familial hyperprolactinemia

Familial hyperthyroidism due to mutations in TSH receptor

Familial hypocalciuric hypercalcemia

Familial hypocalciuric hypercalcemia type 1

Familial hypocalciuric hypercalcemia type 2

Familial hypocalciuric hypercalcemia type 3

Familial hypodysfibrinogenemia

Familial hypofibrinogenemia

Familial idiopathic dilatation of the right atrium

Familial infantile myoclonic epilepsy

Familial intrahepatic cholestasis

Familial isolated congenital asplenia

Familial isolated dilated cardiomyopathy

Familial isolated hyperparathyroidism

Familial isolated hypoparathyroidism

Familial isolated hypoparathyroidism due to agenesis of parathyroid gland

Familial isolated hypoparathyroidism due to impaired PTH secretion

Familial isolated pituitary adenoma

Familial isolated restrictive cardiomyopathy

Familial isolated retinal arteriolar tortuosity

Familial LCAT deficiency

Familial lipoprotein lipase deficiency

Familial long QT syndrome

Familial Mediterranean fever

Familial medullary thyroid carcinoma

Familial melanoma

Familial mitral valve prolapse

Familial monosomy 7 syndrome

Familial nonmedullary thyroid carcinoma

Familial or sporadic hemiplegic migraine

Familial osteochondritis dissecans

Familial pancreatic carcinoma

Familial papillary or follicular thyroid carcinoma

Familial papillary thyroid carcinoma with renal papillary neoplasia

Familial paroxysmal ataxia

Familial partial epilepsy

Familial partial lipodystrophy

Familial partial lipodystrophy, Dunnigan type

Familial partial lipodystrophy, Köbberling type

Familial patent arterial duct

Familial platelet disorder with associated myeloid malignancy

Familial porencephaly

Familial porphyria cutanea tarda

Familial primary hyperparathyroidism

Familial progressive cardiac conduction defect

Familial prostate cancer

Familial pseudohyperkalemia

Familial restrictive cardiomyopathy

Familial retinal arterial macroaneurysm

Familial schizencephaly

Familial short QT syndrome

Familial sick sinus syndrome

Familial steroid-resistant nephrotic syndrome with adrenal insufficiency

Familial steroid-resistant nephrotic syndrome with sensorineural deafness

Familial syringomyelia

Familial thoracic aortic aneurysm and aortic dissection

Familial thrombocytosis

Familial thyroid dyshormonogenesis

Familial vesicoureteral reflux

Familial visceral myopathy

Fanconi anemia

Farber disease

Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease

Fatal familial insomnia

Fatal infantile cytochrome C oxidase deficiency

Fatal infantile hypertonic myofibrillar myopathy

Fatal infantile lactic acidosis with methylmalonic aciduria

Fatty acid hydroxylase-associated neurodegeneration

Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy

Feingold syndrome

Feingold syndrome type 1

Female restricted epilepsy with intellectual disability

Fetal akinesia deformation sequence

Fetal alcohol syndrome

Fetal and neonatal alloimmune thrombocytopenia

Fetal cytomegalovirus syndrome

Fetal Gaucher disease

Fetal iodine syndrome

Fetal lower urinary tract obstruction

Fetal parvovirus syndrome

Fetal valproate spectrum disorder

Fever-associated acute infantile liver failure syndrome

FG syndrome type 1

FGFR2-related bent bone dysplasia

Fibrodysplasia ossificans progressiva

Fibronectin glomerulopathy

Fibrosarcoma

Fibrosis-neurodegeneration-cerebral angiomatosis syndrome

Fibrous dysplasia of bone

Fibrous dysplasia/McCune-Albright syndrome

Fixed subaortic stenosis

FKRP-related limb-girdle muscular dystrophy R9

Fleck corneal dystrophy

FLNA-related X-linked myxomatous valvular dysplasia

Floating-Harbor syndrome

Focal dermal hypoplasia

Focal epilepsy-intellectual disability-cerebro-cerebellar malformation

Focal myositis

Focal stiff limb syndrome

Focal, segmental or multifocal dystonia

Foix-Chavany-Marie syndrome

Follicular dendritic cell sarcoma

Follicular lymphoma

Folliculotropic mycosis fungoides

FOXG1 syndrome

FOXG1 syndrome due to 14q12 microdeletion

FOXP1 Syndrome

Fragile X syndrome

Fragile X-associated tremor/ataxia syndrome

Fraser syndrome

Frasier syndrome

FRAXE intellectual disability

Free sialic acid storage disease

Free sialic acid storage disease, infantile form

Freeman-Sheldon syndrome

Friedreich ataxia

Frontometaphyseal dysplasia

Frontotemporal dementia

Frontotemporal dementia with motor neuron disease

Fructose-1,6-bisphosphatase deficiency

Fryns syndrome

Fuchs endothelial corneal dystrophy

Fuchs heterochromic iridocyclitis

Fucosidosis

Fuhrmann syndrome

Fukutin-related limb-girdle muscular dystrophy R13

Full NF2-related schwannomatosis

Full schwannomatosis

Fumaric aciduria

Functional variant of Guillain-Barré syndrome

Functioning gonadotropic adenoma

Functioning pituitary adenoma

Fundus albipunctatus

Gabriele-de Vries syndrome

Galactokinase deficiency

Galactose epimerase deficiency

Galactosemia

Galloway-Mowat syndrome

Gamma-glutamyl transpeptidase deficiency

Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5

Gangliocytoma

Ganglioglioma

Ganglioneuroblastoma

Ganglioneuroma

Gardner syndrome

Gastric adenocarcinoma and proximal polyposis of the stomach

Gastric linitis plastica

Gastroenteropancreatic neuroendocrine neoplasm

Gastrointestinal stromal tumor

GATA2 deficiency spectrum

Gaucher disease

Gaucher disease type 1

Gaucher disease type 2

Gaucher disease type 3

Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome

Gelatinous drop-like corneal dystrophy

Geleophysic dysplasia

Gemignani syndrome

Generalized arterial calcification of infancy

Generalized bulbospinal muscular atrophy

Generalized galactose epimerase deficiency

Generalized isolated dystonia

Generalized juvenile polyposis/juvenile polyposis coli

Generalized peeling skin syndrome

Generalized pseudohypoaldosteronism type 1

Generalized pustular psoriasis

Genetic 46,XX difference of sex development

Genetic 46,XY difference of sex development

Genetic autoinflammatory syndrome with acne and/or hidradenitis suppurativa

Genetic cardiac malformation

Genetic cardiac rhythm disease

Genetic cerebral small vessel disease

Genetic chronic primary adrenal insufficiency

Genetic cystic renal disease

Genetic difference of sex development

Genetic epilepsy with febrile seizure plus

Genetic hemolytic uremic syndrome

Genetic lipodystrophy

Genetic motor neuron disease

Genetic nephrotic syndrome

Genetic non-syndromic obesity

Genetic obesity

Genetic peripheral neuropathy

Genetic recurrent myoglobinuria

Genetic steroid-resistant nephrotic syndrome

Genetic susceptibility to infections due to particular pathogens

Genetic syndromic Pierre Robin syndrome

Genetic thrombotic microangiopathy

Genetic transient congenital hypothyroidism

Genitopatellar syndrome

Germ cell tumor

Germ cell tumor of testis

Germinoma of the central nervous system

Gerstmann-Straussler-Scheinker syndrome

Gestational choriocarcinoma

Gestational trophoblastic disease

Gestational trophoblastic neoplasm

Giant axonal neuropathy

Giant cell arteritis

Giant cell tumor of bone

Gingival fibromatosis-facial dysmorphism syndrome

Gingival fibromatosis-hypertrichosis syndrome

Gingival fibromatosis-progressive deafness syndrome

Gitelman syndrome

GJC2-related late-onset primary lymphedema

Glanzmann thrombasthenia

Glassy cell carcinoma of the cervix uteri

Glial tumor

Glial tumor of neuroepithelial tissue with unknown origin

Glioblastoma

Gliomatosis cerebri

Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome

Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome

Glomerular disease

Glucagonoma

Glutamate-cysteine ligase deficiency

Glutaryl-CoA dehydrogenase deficiency

Glutathione synthetase deficiency

Glycine encephalopathy

Glycogen storage disease due to acid maltase deficiency

Glycogen storage disease due to acid maltase deficiency, infantile onset

Glycogen storage disease due to acid maltase deficiency, late-onset

Glycogen storage disease due to aldolase A deficiency

Glycogen storage disease due to glucose-6-phosphatase deficiency

Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia

Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib

Glycogen storage disease due to glycogen branching enzyme deficiency

Glycogen storage disease due to glycogen debranching enzyme deficiency

Glycogen storage disease due to hepatic glycogen synthase deficiency

Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency

Glycogen storage disease due to liver glycogen phosphorylase deficiency

Glycogen storage disease due to liver phosphorylase kinase deficiency

Glycogen storage disease due to muscle and heart glycogen synthase deficiency

Glycogen storage disease due to muscle glycogen phosphorylase deficiency

Glycogen storage disease due to muscle phosphofructokinase deficiency

Glycogen storage disease due to phosphoglycerate kinase 1 deficiency

Glycogen storage disease due to phosphorylase kinase deficiency

Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency

GM1 gangliosidosis

GM1 gangliosidosis type 1

GM1 gangliosidosis type 2

GM1 gangliosidosis type 3

GM2 gangliosidosis

GM2 gangliosidosis, AB variant

GM3 synthase deficiency

GMPPB-related limb-girdle muscular dystrophy R19

GNAO1-related developmental delay-seizures-movement disorder spectrum

GNB5-related intellectual disability-cardiac arrhythmia syndrome

GNE myopathy

Goblet cell carcinoma

Gonadal germ cell tumor

Gonadoblastoma

Gordon syndrome

Gorham-Stout disease

Gorlin syndrome

Graft versus host disease

Granular corneal dystrophy type I

Granular corneal dystrophy type II

Granulomatosis with polyangiitis

Granulomatous slack skin

Gray platelet syndrome

Grayson-Wilbrandt corneal dystrophy

Greenberg dysplasia

Greig cephalopolysyndactyly syndrome

GRFoma

GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder

Griscelli syndrome

Griscelli syndrome type 1

Griscelli syndrome type 2

Griscelli syndrome type 3

Growing teratoma syndrome

Growth delay due to insulin-like growth factor type 1 deficiency

GTP cyclohydrolase I deficiency

Guanidinoacetate methyltransferase deficiency

Guillain-Barré syndrome

Gynandroblastoma

Gyrate atrophy of choroid and retina

Gómez-López-Hernández syndrome

H syndrome

Haddad syndrome

Hailey-Hailey disease

Hairy cell leukemia variant

Hajdu-Cheney syndrome

Hallermann-Streiff syndrome

Hallermann-Streiff-like syndrome

HANAC syndrome

Hand-foot-genital syndrome

Hantavirus pulmonary syndrome

Harlequin ichthyosis

Hartsfield syndrome

Hb Bart’s hydrops fetalis

Heart position anomaly

Heart-hand syndrome, Slovenian type

Heiner syndrome

Hemi-myelomeningocele

Hemi-myeloschisis

Hemidystonia-hemiatrophy syndrome

Hemihyperplasia-multiple lipomatosis syndrome

Hemimegalencephaly

Hemoglobin C disease

Hemoglobin C-beta-thalassemia syndrome

Hemoglobin D disease

Hemoglobin E disease

Hemoglobin E-beta-thalassemia syndrome

Hemoglobin H disease

Hemoglobin Lepore-beta-thalassemia syndrome

Hemoglobin M disease

Hemoglobinopathy

Hemoglobinopathy Toms River

Hemolytic anemia due to a disorder of glycolytic enzymes

Hemolytic anemia due to adenylate kinase deficiency

Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder

Hemolytic anemia due to diphosphoglycerate mutase deficiency

Hemolytic anemia due to erythrocyte adenosine deaminase overproduction

Hemolytic anemia due to glucophosphate isomerase deficiency

Hemolytic anemia due to glutathione reductase deficiency

Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies

Hemolytic anemia due to pyrimidine 5′ nucleotidase deficiency

Hemolytic anemia due to red cell pyruvate kinase deficiency

Hemolytic uremic syndrome

Hemolytic uremic syndrome with DGKE deficiency

Hemophagocytic syndrome

Hemophagocytic syndrome associated with an infection

Hemophilia

Hemophilia A

Hemophilia B

Hemophilia B Leyden

Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation

Hemorrhagic fever-renal syndrome

Hendra virus infection

Hennekam syndrome

Hennekam-Beemer syndrome

Heparin-induced thrombocytopenia

Hepatic cystic hamartoma

Hepatic veno-occlusive disease

Hepatic veno-occlusive disease-immunodeficiency syndrome

Hepatoblastoma

Hepatocellular carcinoma

Hepatoerythropoietic porphyria

Hepatoportal sclerosis

Hepatosplenic T-cell lymphoma

Hereditary amyloidosis with primary renal involvement

Hereditary angioedema

Hereditary angioedema type 1

Hereditary angioedema type 2

Hereditary angioedema with C1Inh deficiency

Hereditary angioedema with normal C1Inh

Hereditary angioedema with normal C1Inh not related to F12 or PLG variant

Hereditary arginine vasopressin deficiency

Hereditary ataxia

Hereditary ATTR amyloidosis

Hereditary breast and/or ovarian cancer syndrome

Hereditary breast cancer

Hereditary chronic pancreatitis

Hereditary clear cell renal cell carcinoma

Hereditary combined deficiency of vitamin K-dependent clotting factors

Hereditary coproporphyria

Hereditary cryohydrocytosis with normal stomatin

Hereditary cryohydrocytosis with reduced stomatin

Hereditary dentin defect

Hereditary diffuse gastric cancer

Hereditary elliptocytosis

Hereditary episodic ataxia

Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome

Hereditary folate malabsorption

Hereditary fructose intolerance

Hereditary gastric cancer

Hereditary gingival fibromatosis

Hereditary hemorrhagic telangiectasia

Hereditary hyperekplexia

Hereditary hypophosphatemic rickets with hypercalciuria

Hereditary inclusion body myopathy type 4

Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome

Hereditary isolated aplastic anemia

Hereditary late-onset Parkinson disease

Hereditary leiomyomatosis and renal cell cancer

Hereditary methemoglobinemia

Hereditary mixed polyposis syndrome

Hereditary motor and sensory neuropathy type 5

Hereditary motor and sensory neuropathy type 6

Hereditary motor and sensory neuropathy with acrodystrophy

Hereditary motor and sensory neuropathy, Okinawa type

Hereditary myopathy with early respiratory failure

Hereditary myopathy with lactic acidosis due to ISCU deficiency

Hereditary neurocutaneous malformation

Hereditary neuropathy with liability to pressure palsies

Hereditary nonpolyposis colon cancer

Hereditary North American Indian childhood cirrhosis

Hereditary periodic fever syndrome

Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome

Hereditary persistence of fetal hemoglobin-intellectual disability syndrome

Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome

Hereditary pheochromocytoma-paraganglioma

Hereditary pulmonary alveolar proteinosis

Hereditary renal hypouricemia

Hereditary retinoblastoma

Hereditary sensorimotor neuropathy with hyperelastic skin

Hereditary sensory and autonomic neuropathy

Hereditary sensory and autonomic neuropathy due to TECPR2 mutation

Hereditary sensory and autonomic neuropathy type 1

Hereditary sensory and autonomic neuropathy type 1B

Hereditary sensory and autonomic neuropathy type 2

Hereditary sensory and autonomic neuropathy type 4

Hereditary sensory and autonomic neuropathy type 5

Hereditary sensory and autonomic neuropathy type 6

Hereditary sensory and autonomic neuropathy type 7

Hereditary sensory and autonomic neuropathy with deafness and global delay

Hereditary sensory neuropathy-deafness-dementia syndrome

Hereditary spastic paraplegia

Hereditary spherocytosis

Hereditary stomatocytosis

Hereditary thermosensitive neuropathy

Hereditary thrombocytopenia with early-onset myelofibrosis

Hereditary thrombocytopenia with normal platelets

Hereditary xanthinuria

Heritable pulmonary arterial hypertension

Hermansky-Pudlak syndrome

Hermansky-Pudlak syndrome due to AP-3 deficiency

Hermansky-Pudlak syndrome due to BLOC-1 deficiency

Hermansky-Pudlak syndrome due to BLOC-2 deficiency

Hermansky-Pudlak syndrome due to BLOC-3 deficiency

Herpes simplex virus encephalitis

Herpetiform pemphigus

Heterotaxia

HHV-8-associated multicentric Castleman disease

Hidrotic ectodermal dysplasia

High altitude pulmonary edema

High bone mass osteogenesis imperfecta

High myopia-sensorineural deafness syndrome

High-grade astrocytoma

High-grade neuroendocrine carcinoma of the cervix uteri

High-grade neuroendocrine carcinoma of the corpus uteri

Hirschsprung disease

His bundle tachycardia

Histiocytoid cardiomyopathy

HJV or HAMP-related hemochromatosis

HNF1B-related autosomal dominant tubulointerstitial kidney disease

HNRNPDL-related limb-girdle muscular dystrophy D3

Hodgkin lymphoma

Holocarboxylase synthetase deficiency

Holoprosencephaly

Holoprosencephaly-radial heart renal anomalies syndrome

Holt-Oram syndrome

Homocystinuria due to cystathionine beta-synthase deficiency

Homozygous familial hypercholesterolemia

House allergic alveolitis

Hoyeraal-Hreidarsson syndrome

HSD10 disease

HSD10 disease, atypical type

HSD10 disease, infantile type

HSD10 disease, neonatal type

Hughes-Stovin syndrome

Huntington disease

Huntington disease-like 1

Huntington disease-like 2

Hurler syndrome

Hurler-Scheie syndrome

Hutchinson-Gilford progeria syndrome

Hyaline fibromatosis syndrome

Hyaluronidase deficiency

Hydatidiform mole

Hydroa vacciniforme-like lymphoma

Hydrocephalus with stenosis of the aqueduct of Sylvius

Hydrocephalus-obesity-hypogonadism syndrome

Hyper-IgE syndrome

Hyper-IgM syndrome type 2

Hyper-IgM syndrome type 3

Hyper-IgM syndrome type 4

Hyper-IgM syndrome type 5

Hyper-IgM syndrome with susceptibility to opportunistic infections

Hyper-IgM syndrome without susceptibility to opportunistic infections

Hyperalphalipoproteinemia

Hyperammonemia due to N-acetylglutamate synthase deficiency

Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency

Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency

Hypereosinophilic syndrome

Hypergonadotropic hypogonadism-cataract syndrome

Hyperimmunoglobulinemia D with periodic fever

Hyperinsulinism due to HNF1A deficiency

Hyperinsulinism due to INSR deficiency

Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency

Hyperinsulinism due to UCP2 deficiency

Hyperinsulinism-hyperammonemia syndrome

Hyperkalemic periodic paralysis

Hyperlipidemia due to hepatic triacylglycerol lipase deficiency

Hypermobile Ehlers-Danlos syndrome

Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome

Hyperostosis corticalis generalisata

Hyperparathyroidism-jaw tumor syndrome

Hyperphenylalaninemia due to tetrahydrobiopterin deficiency

Hypersensitivity pneumonitis

Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation

Hypertrophic or verrucous lupus erythematosus

Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome

Hypobetalipoproteinemia

Hypocalcified amelogenesis imperfecta

Hypochondrogenesis

Hypochondroplasia

Hypoglossia-hypodactyly syndrome

Hypogonadism-mitral valve prolapse-intellectual disability syndrome

Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome

Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome

Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome

Hypohidrotic ectodermal dysplasia

Hypohidrotic ectodermal dysplasia with immunodeficiency

Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome

Hypokalemic periodic paralysis

Hypomaturation amelogenesis imperfecta

Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism

Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome

Hypomyelination neuropathy-arthrogryposis syndrome

Hypomyelination of early myelinating structures

Hypomyelination with atrophy of basal ganglia and cerebellum

Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome

Hypomyelination-congenital cataract syndrome

Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome

Hypophosphatasia

Hypopigmentation of the skin

Hypoplasia of the mitral valve annulus

Hypoplastic amelogenesis imperfecta

Hypoplastic left heart syndrome

Hypoplastic right heart syndrome

Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome

Hypothalamic hamartomas with gelastic seizures

Hypothyroidism due to deficient transcription factors involved in pituitary development or function

Hypothyroidism due to TSH receptor mutations

Hypotonia-cystinuria syndrome

Hypotonia-speech impairment-severe cognitive delay syndrome

Hypotrichosis with juvenile macular degeneration

Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome

Hypoxanthine guanine phosphoribosyltransferase partial deficiency

Hypoxanthine-guanine phosphoribosyltransferase deficiency

Iatrogenic Creutzfeldt-Jakob disease

ICF syndrome

Ichthyosis

Ichthyosis follicularis-alopecia-photophobia syndrome

Ichthyosis hystrix of Curth-Macklin

Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome

Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome

Ichthyosis-hypotrichosis syndrome

Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome

Ichthyosis-oral and digital anomalies syndrome

Ichthyosis-prematurity syndrome

Ichthyosis-short stature-brachydactyly-microspherophakia syndrome

Idiopathic achalasia

Idiopathic acute transverse myelitis

Idiopathic aplastic anemia

Idiopathic bilateral vestibulopathy

Idiopathic bronchiectasis

Idiopathic catatonia

Idiopathic CD4 lymphocytopenia

Idiopathic chronic eosinophilic pneumonia

Idiopathic congenital hypothyroidism

Idiopathic eosinophilic myositis

Idiopathic eosinophilic pneumonia

Idiopathic hypereosinophilic syndrome

Idiopathic hypersomnia

Idiopathic inflammatory myopathy

Idiopathic interstitial pneumonia

Idiopathic juvenile osteoporosis

Idiopathic multicentric Castleman disease

Idiopathic multidrug-resistant nephrotic syndrome

Idiopathic nephrotic syndrome

Idiopathic non-lupus full-house nephropathy

Idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes

Idiopathic panuveitis

Idiopathic peliosis hepatis

Idiopathic pleuroparenchymal fibroelastosis

Idiopathic posterior uveitis

Idiopathic pulmonary arterial hypertension

Idiopathic pulmonary artery dilatation

Idiopathic pulmonary fibrosis

Idiopathic pulmonary hemosiderosis

Idiopathic steroid-resistant nephrotic syndrome

Idiopathic steroid-resistant nephrotic syndrome with sensitivity to second-line immunosuppressive therapy

Idiopathic steroid-sensitive nephrotic syndrome

Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance

Idiopathic syringomyelia

Idiopathic uveal effusion syndrome

Idiopathic ventricular fibrillation, non Brugada type

Idiopathic/heritable pulmonary arterial hypertension

IgA pemphigus

IgG4-related aortitis

IgG4-related dacryoadenitis and sialadenitis

IgG4-related disease

IgG4-related kidney disease

IgG4-related mediastinitis

IgG4-related mesenteritis

IgG4-related ophthalmic disease

IgG4-related pachymeningitis

IgG4-related retroperitoneal fibrosis

IgG4-related sclerosing cholangitis

IgG4-related submandibular gland disease

IgG4-related thyroid disease

IL21-related infantile inflammatory bowel disease

Ileal neuroendocrine tumor

IMAGe syndrome

Imerslund-Gräsbeck syndrome

Immune dysregulation disease with immunodeficiency

Immune dysregulation with inflammatory bowel disease

Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome

Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome

Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome

Immune dysregulation, polyendocrinopathy, enteropathy, x-linked syndrome: a paradigm of immunodeficiency with autoimmunity

Immune thrombocytopenia

Immune-mediated cerebellar ataxia

Immune-mediated necrotizing myopathy

Immune-mediated thrombotic thrombocytopenic purpura

Immuno-osseous dysplasia

Immunodeficiency by defective expression of MHC class I

Immunodeficiency by defective expression of MHC class II

Immunodeficiency due to a classical component pathway complement deficiency

Immunodeficiency due to a complement cascade component deficiency

Immunodeficiency due to a complement cascade protein anomaly

Immunodeficiency due to a complement regulatory deficiency

Immunodeficiency due to a late component of complement deficiency

Immunodeficiency due to CD25 deficiency

Immunodeficiency due to ficolin3 deficiency

Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency

Immunodeficiency due to MASP-2 deficiency

Immunodeficiency due to selective anti-polysaccharide antibody deficiency

Immunodeficiency predominantly affecting antibody production

Immunodeficiency syndrome with autoimmunity

Immunodeficiency with factor H anomaly

Immunodeficiency with factor I anomaly

Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells

Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells

Immunoglobulin A nephropathy

Immunoglobulin A vasculitis

Immunoglobulin heavy chain deficiency

Immunoglobulin-mediated membranoproliferative glomerulonephritis

Inclusion body myopathy with Paget disease of bone and frontotemporal dementia

Inclusion body myositis

Inclusion myopathy

Incontinentia pigmenti

Indolent B-cell non-Hodgkin lymphoma

Indolent primary cutaneous B-cell lymphoma

Indolent primary cutaneous T-cell lymphoma

Indolent systemic mastocytosis

Infant botulism

Infantile cerebellar-retinal degeneration

Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly

Infantile convulsions and choreoathetosis

Infantile dystonia-parkinsonism

Infantile epilepsy syndrome

Infantile epileptic spasms syndrome

Infantile glycine encephalopathy

Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency

Infantile hypophosphatasia

Infantile inflammatory bowel disease with neurological involvement

Infantile Krabbe disease

Infantile LAD-like disease due to RAC2 deficiency

Infantile multisystem neurologic-endocrine-pancreatic disease

Infantile nephronophthisis

Infantile nephropathic cystinosis

Infantile neuroaxonal dystrophy

Infantile neurovisceral acid sphingomyelinase deficiency

Infantile osteopetrosis with neuroaxonal dysplasia

Infantile Refsum disease

Infantile spasms-broad thumbs syndrome

Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome

Infantile systemic hyalinosis

Infantile-onset ascending hereditary spastic paralysis

Infantile-onset autosomal recessive nonprogressive cerebellar ataxia

Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome

Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression

Infantile-onset periodic fever-panniculitis-dermatosis syndrome

Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia

Infantile-onset spinocerebellar ataxia

Infantile-onset X-linked spinal muscular atrophy

Infection-related hemolytic uremic syndrome

Infectious anterior uveitis

Infectious disease of the nervous system

Infectious disease with epilepsy

Infectious embryofetopathy

Infectious encephalitis

Infectious panuveitis

Infectious posterior uveitis

Inferior vena cava interruption without azygos continuation

Inflammatory and autoimmune disease with epilepsy

Inflammatory bowel disease-recurrent sinopulmonary infections syndrome

Inflammatory myopathy with abundant macrophages

Inflammatory pseudotumor of the liver

Inherited acute myeloid leukemia

Inherited arrhythmogenic cardiomyopathy

Inherited Creutzfeldt-Jakob disease

Inherited epidermodysplasia verruciformis

Inherited epidermolysis bullosa

Inherited human prion disease

Inherited ichthyosis

Inherited ichthyosis syndromic form

Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency

Inherited isolated arrhythmogenic cardiomyopathy

Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant

Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant

Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant

Inherited non-syndromic ichthyosis

Inherited renal cancer-predisposing syndrome

Inherited retinal disorder

Insulin-resistance syndrome type A

Insulinoma

Intellectual disability syndrome due to a DYRK1A point mutation

Intellectual disability, Birk-Barel type

Intellectual disability-brachydactyly-Pierre Robin syndrome

Intellectual disability-cataracts-calcified pinnae-myopathy syndrome

Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome

Intellectual disability-developmental delay-contractures syndrome

Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome

Intellectual disability-expressive aphasia-facial dysmorphism syndrome

Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency

Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome

Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome

Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome

Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome

Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome

Intellectual disability-seizures-macrocephaly-obesity syndrome

Interatrial communication

Intermediate atrioventricular septal defect

Intermediate Charcot-Marie-Tooth disease

Intermediate collagen VI-related muscular dystrophy

Intermediate DEND syndrome

Intermediate epidermolysis bullosa simplex with cardiomyopathy

Intermediate generalized junctional epidermolysis bullosa

Intermediate maple syrup urine disease

Intermediate nemaline myopathy

Intermediate osteopetrosis

Intermediate severe Salla disease

Intermediate uveitis

Intermittent maple syrup urine disease

Interstitial cystitis

Interstitial lung disease

Interstitial lung disease due to ABCA3 deficiency

Interstitial lung disease due to SP-C deficiency

Interstitial lung disease in childhood and adulthood

Interstitial lung disease specific to adulthood

Interstitial lung disease specific to childhood

Interstitial lung disease specific to infancy

Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome

Interventricular septum aneurysm

Intestinal polyposis syndrome

Intractable diarrhea of infancy

Intraductal papillary mucinous carcinoma of pancreas

Intrahepatic cholestasis of pregnancy

Intravascular large B-cell lymphoma

Invasive mole

Inverse Klippel-Trénaunay syndrome

Inverted duplicated chromosome 15 syndrome

IRVAN syndrome

Isaacs syndrome

Isobutyryl-CoA dehydrogenase deficiency

Isolated absence of both forearm and hand

Isolated absence of upper arm and forearm with hand present

Isolated agammaglobulinemia

Isolated aniridia

Isolated biliary atresia

Isolated bone marrow mastocytosis

Isolated childhood apraxia of speech

Isolated cleft lip

Isolated complex I deficiency

Isolated congenital hypogonadotropic hypogonadism

Isolated congenital microcephaly

Isolated congenitally uncorrected transposition of the great arteries

Isolated constitutional thrombocytopenia

Isolated Dandy-Walker malformation

Isolated Dandy-Walker malformation with hydrocephalus

Isolated Dandy-Walker malformation without hydrocephalus

Isolated delta-storage pool disease

Isolated dystonia

Isolated ectopia lentis

Isolated epispadias

Isolated follicle stimulating hormone deficiency

Isolated glycerol kinase deficiency

Isolated hereditary giant platelet disorder

Isolated hyperchlorhidrosis

Isolated Klippel-Feil syndrome

Isolated micronodular adrenocortical disease

Isolated microphthalmia-anophthalmia-coloboma

Isolated neonatal sclerosing cholangitis

Isolated osteopoikilosis

Isolated oxidative phosphorylation complex disorder

Isolated permanent neonatal diabetes mellitus

Isolated Pierre Robin syndrome

Isolated polycystic liver disease

Isolated posterior meningocele

Isolated primary pigmented nodular adrenocortical disease

Isolated pulmonary artery sling

Isolated pulmonary capillaritis

Isolated radial hemimelia

Isolated right ventricular hypoplasia

Isolated split hand-split foot malformation

Isolated succinate-CoQ reductase deficiency

Isolated sulfite oxidase deficiency

Isolated thyroid-stimulating hormone deficiency

Isolated thyrotropin-releasing hormone deficiency

Isolated tracheoesophageal fistula

Isolated ulnar hemimelia

Isovaleric acidemia

ISPD-related limb-girdle muscular dystrophy R20

ITM2B amyloidosis

IVIC syndrome

Jackson-Weiss syndrome

Jacobsen syndrome

Jalili syndrome

Japanese encephalitis

Jawad syndrome

Jejunal neuroendocrine tumor

Jervell and Lange-Nielsen syndrome

Johanson-Blizzard syndrome

Joubert syndrome

Joubert syndrome and related disorders

Joubert syndrome with hepatic defect

Joubert syndrome with Jeune asphyxiating thoracic dystrophy

Joubert syndrome with ocular defect

Joubert syndrome with oculorenal defect

Joubert syndrome with renal defect

Junctional epidermolysis bullosa

Junctional epidermolysis bullosa inversa

Junctional epidermolysis bullosa with pyloric atresia

Jung syndrome

Juvenile amyotrophic lateral sclerosis

Juvenile dermatomyositis

Juvenile glaucoma

Juvenile Huntington disease

Juvenile hyaline fibromatosis

Juvenile idiopathic arthritis

Juvenile idiopathic inflammatory myopathy

Juvenile myasthenia gravis

Juvenile myoclonic epilepsy

Juvenile nasopharyngeal angiofibroma

Juvenile nephronophthisis

Juvenile nephropathic cystinosis

Juvenile or adult CACH syndrome

Juvenile overlap myositis

Juvenile polymyositis

Juvenile polyposis of infancy

Juvenile polyposis syndrome

Juvenile primary lateral sclerosis

Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome

Juvenile-onset Steinert myotonic dystrophy

Juxtaposition of the atrial appendages

Kabuki syndrome

Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14

Kallmann syndrome

Kallmann syndrome-heart disease syndrome

Kaposi sarcoma

Kaposiform hemangioendothelioma

Kaposiform lymphangiomatosis

Kasabach-Merritt phenomenon

Kawasaki disease

KBG syndrome

Kearns-Sayre syndrome

Kennedy disease

Keppen-Lubinsky syndrome

Keratinopathic ichthyosis

Keratitis fugax hereditaria

Keratoderma hereditarium mutilans with ichthyosis

Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome

KID syndrome

Kikuchi-Fujimoto disease

Kindler epidermolysis bullosa

King-Denborough syndrome

Klatskin tumor

Kleefstra syndrome

Kleefstra syndrome due to 9q34 microdeletion

Kleefstra syndrome due to a point mutation

Kleine-Levin syndrome

Klippel-Trénaunay syndrome

Klüver-Bucy syndrome

Kniest dysplasia

Kommerell diverticulum

Koolen-De Vries syndrome

Koolen-De Vries syndrome due to a point mutation

Kostmann syndrome

Krabbe disease

Kufor-Rakeb syndrome

Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome

Kyphoscoliotic Ehlers-Danlos syndrome

Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency

Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency

L-2-hydroxyglutaric aciduria

L-Arginine:glycine amidinotransferase deficiency

L1 syndrome

La Crosse encephalitis

Lafora disease

Laing distal myopathy

Lambert-Eaton myasthenic syndrome

Lamellar ichthyosis

Laminin subunit alpha 2-related congenital muscular dystrophy

Laminin subunit alpha 2-related limb-girdle muscular dystrophy R23

Landau-Kleffner syndrome

Langer mesomelic dysplasia

Langerhans cell histiocytosis

Large congenital melanocytic nevus

Laron syndrome with immunodeficiency

Larsen syndrome

Laryngeal neuroendocrine tumor

Laryngo-onycho-cutaneous syndrome

Laryngotracheoesophageal cleft

Laryngotracheoesophageal cleft type 0

Laryngotracheoesophageal cleft type 1

Laryngotracheoesophageal cleft type 2

Laryngotracheoesophageal cleft type 3

Laryngotracheoesophageal cleft type 4

Late infantile CACH syndrome

Late-infantile/juvenile Krabbe disease

Late-onset citrullinemia type I

Late-onset distal myopathy, Markesbery-Griggs type

Late-onset isolated ACTH deficiency

Late-onset junctional epidermolysis bullosa

Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome

Late-onset nephronophthisis

Late-onset primary lymphedema without systemic or visceral involvement

Late-onset Steinert myotonic dystrophy

Lateral meningocele syndrome

Lattice corneal dystrophy type I

Laubry-Pezzi syndrome

Laurence-Moon syndrome

Leber congenital amaurosis

Leber hereditary optic neuropathy

Leber plus disease

Left sided atrial isomerism

Left ventricular noncompaction

Legg-Calvé-Perthes disease

Legius syndrome

Leigh syndrome

Leiomyosarcoma

Leiomyosarcoma of the cervix uteri

Leiomyosarcoma of the corpus uteri

Leishmaniasis

Lennox-Gastaut syndrome

Lenz-Majewski hyperostotic dwarfism

Leprechaunism

Leprosy

Lesch-Nyhan syndrome

Lethal acantholytic erosive disorder

Lethal ataxia with deafness and optic atrophy

Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome

Lethal hemolytic anemia-genital anomalies syndrome

Lethal neonatal spasticity-epileptic encephalopathy syndrome

Leukocyte adhesion deficiency

Leukocyte adhesion deficiency type II

Leukocyte adhesion deficiency type III

Leukodystrophy

Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome

Leukoencephalopathy with calcifications and cysts

Leukoencephalopathy with mild cerebellar ataxia and white matter edema

Leukoencephalopathy-dystonia-motor neuropathy syndrome

Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome

Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome

Levocardia

Lewis-Sumner syndrome

Lhermitte-Duclos disease

Li-Fraumeni syndrome

Liddle syndrome

LIG4 syndrome

Limb-girdle muscular dystrophy

Limb-girdle muscular dystrophy due to POMK deficiency

Limb-mammary syndrome

Limited cutaneous systemic sclerosis

Limited dorsal myeloschisis

Limited systemic sclerosis

Linear IgA dermatosis

LIPE-related familial partial lipodystrophy

Lipodystrophy due to peptidic growth factors deficiency

Lipodystrophy-intellectual disability-deafness syndrome

Lipoid proteinosis

Lipoprotein glomerulopathy

Liposarcoma

Lisch epithelial corneal dystrophy

Lissencephaly

Lissencephaly due to LIS1 mutation

Lissencephaly due to TUBA1A mutation

Lissencephaly type 1 due to doublecortin gene mutation

Livedoid vasculopathy

Lobar holoprosencephaly

Localized dystrophic epidermolysis bullosa

Localized dystrophic epidermolysis bullosa, acral form

Localized dystrophic epidermolysis bullosa, nails only

Localized dystrophic epidermolysis bullosa, pretibial form

Localized epidermolysis bullosa simplex

Localized junctional epidermolysis bullosa

Localized pagetoid reticulosis

Localized scleroderma

Loeys-Dietz syndrome

Logopenic progressive aphasia

Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency

Low phospholipid-associated cholelithiasis

Low-grade astrocytoma

Low-grade neuroendocrine tumor of the corpus uteri

Lower motor neuron syndrome with late-adult onset

Lowry-Wood syndrome

Lujan-Fryns syndrome

LUMBAR syndrome

Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome

Lupus erythematosus panniculitis

Lupus erythematosus tumidus

Luscan-Lumish syndrome

Lyme disease

Lymphangioleiomyomatosis

Lymphedema-distichiasis syndrome

Lymphedema-posterior choanal atresia syndrome

Lymphocytic hypereosinophilic syndrome

Lymphoid interstitial pneumonia

Lymphoma

Lymphomatoid granulomatosis

Lymphomatoid papulosis

Lynch syndrome

Lysinuric protein intolerance

Lysosomal acid lipase deficiency

Lysosomal disease with epilepsy

Lysosomal disease with hypertrophic cardiomyopathy

Lysosomal storage disease with skeletal involvement

Léri-Weill dyschondrosteosis

Machado-Joseph disease type 1

Machado-Joseph disease type 2

Machado-Joseph disease type 3

Macrocephaly-intellectual disability-left ventricular non compaction syndrome

Macrocephaly-spastic paraplegia-dysmorphism syndrome

Macrocystic lymphatic malformation

Macrodactyly of fingers, unilateral

Macrodactyly of toes, unilateral

Macrophage activation syndrome

Macrosomia-microphthalmia-cleft palate syndrome

Macrothrombocytopenia with mitral valve insufficiency

Macular corneal dystrophy

Maculopapular cutaneous mastocytosis

Madras motor neuron disease

MAGEL2-related Prader-Willi-like syndrome

MAGIC syndrome

Majeed syndrome

Malaria

Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome

Male infertility with azoospermia or oligozoospermia due to single gene mutation

Malformation syndrome with short stature

Malignant atrophic papulosis

Malignant epithelial tumor of ovary

Malignant epithelial tumor of salivary glands

Malignant germ cell tumor of ovary

Malignant germ cell tumor of the cervix uteri

Malignant germ cell tumor of the corpus uteri

Malignant germ cell tumor of the vagina

Malignant granulosa cell tumor of the ovary

Malignant hyperthermia of anesthesia

Malignant migrating focal seizures of infancy

Malignant mixed epithelial and mesenchymal tumor of cervix uteri

Malignant mixed epithelial and mesenchymal tumor of corpus uteri

Malignant mixed Müllerian tumor of the ovary

Malignant non-dysgerminomatous germ cell tumor of ovary

Malignant non-epithelial tumor of ovary

Malignant peripheral nerve sheath tumor

Malignant peripheral nerve sheath tumor with perineurial differentiation

Malignant peritoneal mesothelioma

Malignant Sertoli-Leydig cell tumor of the ovary

Malignant sex cord stromal tumor of ovary

Malignant teratoma of ovary

Malignant triton tumor

Malignant tumor of penis

Malposition of a coronary ostium

MAN1B1-CDG

Mandibuloacral dysplasia

Mandibuloacral dysplasia with type A lipodystrophy

Mandibuloacral dysplasia with type B lipodystrophy

Mandibulofacial dysostosis-microcephaly syndrome

Mantle cell lymphoma

Maple syrup urine disease

Marburg acute multiple sclerosis

Marden-Walker syndrome

Marfan syndrome

Marfan syndrome and Marfan-related disorders

Marfan syndrome type 1

Marfan syndrome type 2

Marinesco-Sjögren syndrome

Marshall-Smith syndrome

MASA syndrome

Mast cell leukemia

Mast cell sarcoma

Mastocytosis

Maternal phenylketonuria

Matthew-Wood syndrome

Mayer-Rokitansky-Küster-Hauser syndrome

Mayer-Rokitansky-Küster-Hauser syndrome type 1

Mayer-Rokitansky-Küster-Hauser syndrome type 2

McCune-Albright syndrome

McKusick-Kaufman syndrome

McLeod neuroacanthocytosis syndrome

Meckel syndrome

Medial condensing osteitis of the clavicle

Medich giant platelet syndrome

Medium chain acyl-CoA dehydrogenase deficiency

MEDNIK syndrome

Medullary sponge kidney

Medullary thyroid carcinoma

Medulloblastoma

Medulloblastoma with extensive nodularity

Meesmann corneal dystrophy

Megaconial congenital muscular dystrophy

Megacystis-megaureter syndrome

Megacystis-microcolon-intestinal hypoperistalsis syndrome

Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13)

Megalencephalic leukoencephalopathy with subcortical cysts

Megalencephaly-capillary malformation-polymicrogyria syndrome

Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome

MEGDEL syndrome

Meige disease

MELAS

Melnick-Needles syndrome

Melorheostosis

Melorheostosis with osteopoikilosis

MEND syndrome

Mendelian susceptibility to mycobacterial diseases

Meningococcal meningitis

Menkes disease

MEPAN syndrome

MERRF

Mesoaxial synostotic syndactyly with phalangeal reduction

Mesocardia

Metabolic diseases with epilepsy

Metabolic neurotransmission anomaly with epilepsy

Metachromatic leukodystrophy

Metachromatic leukodystrophy, adult form

Metachromatic leukodystrophy, juvenile form

Metachromatic leukodystrophy, late infantile form

Metal transport or utilization disorder with epilepsy

Metaphyseal chondrodysplasia, Schmid type

Metaplastic carcinoma of the breast

Metatropic dysplasia

Methylcobalamin deficiency type cblE

Methylcobalamin deficiency type cblG

Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency

Methylmalonic acidemia with homocystinuria

Methylmalonic acidemia with homocystinuria type cblF

Methylmalonic acidemia with homocystinuria, type cblC

Methylmalonic acidemia with homocystinuria, type cblD

Methylmalonic acidemia with homocystinuria, type cblJ

Methylmalonic acidemia with homocystinuria, type cblX

Methylmalonic acidemia without homocystinuria

Methylmalonic aciduria due to transcobalamin receptor defect

Mevalonate kinase deficiency

Mevalonic aciduria

MGAT2-CDG

Micro syndrome

Microcephalic osteodysplastic dysplasia, Saul-Wilson type

Microcephalic osteodysplastic primordial dwarfism type II

Microcephalic osteodysplastic primordial dwarfism types I and III

Microcephalic primordial dwarfism

Microcephalic primordial dwarfism-insulin resistance syndrome

Microcephaly-brain defect-spasticity-hypernatremia syndrome

Microcephaly-capillary malformation syndrome

Microcephaly-cardiomyopathy syndrome

Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome

Microcephaly-cervical spine fusion anomalies syndrome

Microcephaly-complex motor and sensory axonal neuropathy syndrome

Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome

Microcephaly-lymphedema-chorioretinopathy syndrome

Microcephaly-microcornea syndrome, Seemanova type

Microcystic lymphatic malformation

Microduplication Xp11.22p11.23 syndrome

Microform holoprosencephaly

Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome

Microlissencephaly-micromelia syndrome

Microphthalmia with brain and digit anomalies

Microphthalmia with limb anomalies

Microphthalmia with linear skin defects syndrome

Microphthalmia, Lenz type

Microphthalmia-ankyloblepharon-intellectual disability syndrome

Microphthalmia-anophthalmia-coloboma

Microphthalmia-brain atrophy syndrome

Microphthalmia-microtia-fetal akinesia syndrome

Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome

Microscopic polyangiitis

Microtia

Microvillus inclusion disease

Middle aortic syndrome

Middle ear neuroendocrine tumor

Midline interhemispheric variant of holoprosencephaly

Mikati-Najjar-Sahli syndrome

Mild Canavan disease

Mild hemophilia A

Mild hemophilia B

Mild hyperphenylalaninemia

Mild phenylketonuria

Mild phosphoribosylpyrophosphate synthetase superactivity

Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis

Miller Fisher syndrome

Miller-Dieker syndrome

Mills syndrome

Milroy disease

Minimal pigment oculocutaneous albinism type 1

MIRAGE syndrome

MiT family translocation renal cell carcinoma

Mitochondrial disease

Mitochondrial disease with dilated cardiomyopathy

Mitochondrial disease with hypertrophic cardiomyopathy

Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes

Mitochondrial disorder due to a defect in mitochondrial protein synthesis

Mitochondrial DNA depletion syndrome

Mitochondrial DNA depletion syndrome, encephalomyopathic form

Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria

Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy

Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies

Mitochondrial DNA depletion syndrome, hepatocerebral form

Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency

Mitochondrial DNA depletion syndrome, myopathic form

Mitochondrial DNA maintenance syndrome

Mitochondrial DNA-associated Leigh syndrome

Mitochondrial DNA-related cardiomyopathy and hearing loss

Mitochondrial DNA-related dystonia

Mitochondrial DNA-related progressive external ophthalmoplegia

Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency

Mitochondrial membrane protein-associated neurodegeneration

Mitochondrial membrane transport disorder

Mitochondrial myopathy

Mitochondrial myopathy and sideroblastic anemia

Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome

Mitochondrial myopathy-lactic acidosis-deafness syndrome

Mitochondrial neurogastrointestinal encephalomyopathy

Mitochondrial oxidative phosphorylation disorder

Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA

Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA

Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies

Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies

Mitochondrial oxidative phosphorylation disorder with no known mechanism

Mitochondrial protein import disorder

Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency

Mitochondrial substrate carrier disorder

Mitochondrial trifunctional protein deficiency

Mitral atresia

Mitral valve agenesis

Mixed connective tissue disease

Mixed cryoglobulinemia type II

Mixed cryoglobulinemia type III

Mixed cystic lymphatic malformation

Mixed functioning pituitary adenoma

Mixed germ cell tumor

Mixed germ cell tumor of central nervous system

Mixed neuronal-glial tumor

Mixed phenotype acute leukemia

Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2)

Mixed phenotype acute leukemia with t(v;11q23.3)

Mixed-type autoimmune hemolytic anemia

Miyoshi myopathy

MME-related autosomal dominant Charcot Marie Tooth disease type 2

MMEP syndrome

Moderate hemophilia A

Moderate hemophilia B

Moderate multiminicore disease with hand involvement

Moderately-differentiated thymic neuroendocrine carcinoma

MODY

Moebius syndrome

Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome

MOGS-CDG

Mohr-Tranebjaerg syndrome

Monogenic disease with epilepsy

Monomelic amyotrophy

Monosomy 13q14

Monosomy 13q34

Monosomy 18p

Monosomy 18q

Monosomy 5p

Monosomy 9p

Monosomy 9q22.3

Monosomy X

Monostotic fibrous dysplasia

Morvan syndrome

Mosaic monosomy X

Mosaic NF2-related schwannomatosis

Mosaic schwannomatosis

Mosaic trisomy 14

Mosaic trisomy 16

Mosaic trisomy 20

Mosaic trisomy 8

Mosaic trisomy 9

Motor neuron disease

Mounier-Kühn syndrome

Mowat-Wilson syndrome

Mowat-Wilson syndrome due to a ZEB2 point mutation

Mowat-Wilson syndrome due to monosomy 2q22

Moyamoya angiopathy

Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome

Moyamoya disease

Moyamoya disease with early-onset achalasia

Moynahan syndrome

MPDU1-CDG

MPI-CDG

MSH3-related attenuated familial adenomatous polyposis

MT-ATP6-related mitochondrial spastic paraplegia

MUC1-related autosomal dominant tubulointerstitial kidney disease

Mucinous adenocarcinoma of ovary

Mucinous adenocarcinoma of the appendix

Mucinous cystadenocarcinoma of the pancreas

Mucinous tubular and spindle cell renal carcinoma

Muckle-Wells syndrome

Mucocutaneous venous malformations

Mucolipidosis type II

Mucolipidosis type III

Mucolipidosis type III alpha/beta

Mucolipidosis type III gamma

Mucolipidosis type IV

Mucopolysaccharidosis

Mucopolysaccharidosis type 1

Mucopolysaccharidosis type 2

Mucopolysaccharidosis type 2, attenuated form

Mucopolysaccharidosis type 2, severe form

Mucopolysaccharidosis type 3

Mucopolysaccharidosis type 4

Mucopolysaccharidosis type 4A

Mucopolysaccharidosis type 4B

Mucopolysaccharidosis type 6

Mucopolysaccharidosis type 6, rapidly progressing

Mucopolysaccharidosis type 6, slowly progressing

Mucopolysaccharidosis type 7

Mucous membrane pemphigoid

Muenke syndrome

Multicentric osteolysis-nodulosis-arthropathy spectrum

Multicystic dysplastic kidney

Multifocal infantile hemangioma with extracutenous involvement

Multifocal motor neuropathy

Multifocal pattern dystrophy simulating fundus flavimaculatus

Multilocular cystic renal neoplasm of low malignant potential

Multiminicore myopathy

Multiple acyl-CoA dehydrogenase deficiency

Multiple acyl-CoA dehydrogenase deficiency, mild type

Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type

Multiple benign circumferential skin creases on limbs

Multiple carboxylase deficiency

Multiple endocrine neoplasia type 1

Multiple endocrine neoplasia type 2

Multiple endocrine neoplasia type 2A

Multiple endocrine neoplasia type 2B

Multiple endocrine neoplasia type 4

Multiple epiphyseal dysplasia

Multiple epiphyseal dysplasia type 1

Multiple epiphyseal dysplasia type 4

Multiple epiphyseal dysplasia type 5

Multiple intestinal atresia

Multiple mitochondrial DNA deletion syndrome

Multiple mitochondrial dysfunctions syndrome type 4

Multiple mitochondrial dysfunctions syndrome type 5

Multiple myeloma

Multiple osteochondromas

Multiple paragangliomas associated with polycythemia

Multiple pterygium-malignant hyperthermia syndrome

Multiple sclerosis variant

Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome

Multiple sulfatase deficiency

Multiple symmetric lipomatosis

Multiple system atrophy

Multiple system atrophy, cerebellar type

Multiple system atrophy, parkinsonian type

Multisystem inflammatory syndrome in children and adults

Multisystemic smooth muscle dysfunction syndrome

Muscle filaminopathy

Muscle-eye-brain disease

Muscle-eye-brain disease with bilateral multicystic leucodystrophy

Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome

Muscular dystrophy

Muscular dystrophy, Selcen type

Muscular pseudohypertrophy-hypothyroidism syndrome

Musculocontractural Ehlers-Danlos syndrome

Mutilating hereditary sensory neuropathy with spastic paraplegia

Mutilating palmoplantar keratoderma with periorificial keratotic plaques

MUTYH-related attenuated familial adenomatous polyposis

Myasthenia gravis

MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome

Mycoplasma encephalitis

Mycosis fungoides and variants

Myelic limited dorsal malformation

Myelocystocele

Myelodysplastic neoplasm with increased blasts

Myelodysplastic neoplasm with increased blasts type 1

Myelodysplastic neoplasm with increased blasts type 2

Myelodysplastic neoplasm with low blasts

Myelodysplastic syndrome

Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality

Myelodysplastic/myeloproliferative disease

Myeloid sarcoma

Myeloperoxidase deficiency

Myeloproliferative neoplasm

Myeloschisis

MYH9-related disease

Myhre syndrome

MYO5B-related progressive familial intrahepatic cholestasis

Myoclonic epilepsy of infancy

Myoclonic-astatic epilepsy

Myoclonus-cerebellar ataxia-deafness syndrome

Myoclonus-dystonia syndrome

Myofibrillar myopathy

Myopathic Ehlers-Danlos syndrome

Myopathic intestinal pseudoobstruction

Myosclerosis

Myotonia fluctuans

Myotonia permanens

Myotonic dystrophy

Myotonic syndrome

MYT1L-related developmental delay-intellectual disability-obesity syndrome

Myxofibrosarcoma

Myxoid/round cell liposarcoma

Myxopapillary ependymoma

Müllerian aplasia

Nager syndrome

Nail-patella syndrome

Nail-patella-like renal disease

Nanophthalmos

Narcolepsy

Narcolepsy type 1

Narcolepsy type 2

NARP syndrome

Nasal ganglioglioma

Nasopharyngeal carcinoma

Nasopharyngeal teratoma

Nasu-Hakola disease

Native American myopathy

Navajo neurohepatopathy

Naxos disease

NDE1-related microhydranencephaly

Necrobiosis lipoidica

Nelson syndrome

Nemaline myopathy

Neonatal acute respiratory distress due to SP-B deficiency

Neonatal adrenoleukodystrophy

Neonatal antiphospholipid syndrome

Neonatal dermatomyositis

Neonatal diabetes mellitus

Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome

Neonatal epilepsy syndrome

Neonatal glycine encephalopathy

Neonatal hemochromatosis

Neonatal hypoxic and ischemic brain injury

Neonatal ichthyosis-sclerosing cholangitis syndrome

Neonatal inflammatory skin and bowel disease

Neonatal intrahepatic cholestasis due to citrin deficiency

Neonatal iodine exposure

Neonatal lupus erythematosus

Neonatal Marfan syndrome

Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect

Neonatal severe primary hyperparathyroidism

Neovascular glaucoma

Nephroblastoma

Nephronophthisis

Nephropathy-deafness-hyperparathyroidism syndrome

Nephrotic syndrome without extrarenal manifestations

Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome

Netherton syndrome

Neu-Laxova syndrome

Neuhauser anomaly

Neuhauser-Eichner-Opitz syndrome

Neuralgic amyotrophy

Neuroacanthocytosis

Neuroblastoma

Neurocutaneous syndrome with epilepsy

Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency

Neurodegeneration with brain iron accumulation

Neurodegenerative syndrome due to cerebral folate transport deficiency

Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome

Neuroectodermal melanolysosomal disease

Neuroendocrine cell hyperplasia of infancy

Neuroendocrine neoplasm

Neuroendocrine neoplasm of appendix

Neuroendocrine tumor of anal canal

Neuroendocrine tumor of pancreas

Neuroendocrine tumor of stomach

Neuroendocrine tumor of the colon

Neuroendocrine tumor of the rectum

Neuroendocrine tumor of the small intestine

Neuroendocrine tumor with other location

Neuroferritinopathy

Neurofibromatosis type 1

Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion

Neurofibromatosis-Noonan syndrome

Neurogenic arthrogryposis multiplex congenita

Neurogenic scapuloperoneal syndrome, Kaeser type

Neuroleptic malignant syndrome

Neuromyelitis optica spectrum disorder

Neuromyelitis optica spectrum disorder with anti-AQP4 antibodies

Neuromyelitis optica spectrum disorder with anti-MOG antibodies

Neuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodies

Neuronal ceroid lipofuscinosis

Neuronal tumor

Neuropathy with hearing impairment

Neutral lipid storage disease with ichthyosis

Nicolaides-Baraitser syndrome

Niemann-Pick disease type C

Niemann-Pick disease type C, adult neurologic onset

Niemann-Pick disease type C, juvenile neurologic onset

Niemann-Pick disease type C, late infantile neurologic onset

Niemann-Pick disease type C, severe early infantile neurologic onset

Niemann-Pick disease type C, severe perinatal form

Nijmegen breakage syndrome

Nijmegen breakage syndrome-like disorder

NIK deficiency

Nipah virus disease

NKX6-2-related autosomal recessive hypomyelinating leukodystrophy

NLRC4-related familial cold autoinflammatory syndrome

NLRP12-associated hereditary periodic fever syndrome

NLRP3-associated autoinflammatory disease

NMDA receptor encephalitis

Nodal marginal zone B-cell lymphoma

Nodular lymphocyte predominant Hodgkin lymphoma

Nodular urticaria pigmentosa

Non-acquired combined pituitary hormone deficiencies without extrapituitary malformations

Non-acquired combined pituitary hormone deficiency

Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome

Non-acquired isolated growth hormone deficiency

Non-acquired panhypopituitarism

Non-acquired pituitary hormone deficiency

Non-central nervous system-localized embryonal carcinoma

Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency

Non-distal deletion 12q

Non-familial dilated cardiomyopathy

Non-familial hypertrophic cardiomyopathy

Non-functioning paraganglioma

Non-functioning pituitary adenoma

Non-hereditary degenerative ataxia

Non-hereditary retinoblastoma

Non-HFE-related hemochromatosis

Non-histaminic angioedema

Non-Hodgkin lymphoma

Non-infectious anterior uveitis

Non-infectious posterior uveitis

Non-involuting congenital hemangioma

Non-papillary transitional cell carcinoma of the bladder

Non-progressive cerebellar ataxia with intellectual disability

Non-recovering obstetric brachial plexus lesion

Non-rhizomelic chondrodysplasia punctata

Non-saccular limited dorsal myeloschisis

Non-seminomatous germ cell tumor of testis

Non-severe combined immunodeficiency

Non-specific autoimmune cerebellar ataxia with characteristic antibodies

Non-specific autoimmune cerebellar ataxia without characteristic antibodies

Non-specific autoimmune supratentorial encephalitis with characteristic antibodies

Non-specific autoimmune supratentorial encephalitis without characteristic antibodies

Non-specific early-onset epileptic encephalopathy

Non-specific interstitial pneumonia

Non-specific syndromic intellectual disability

Non-spherocytic hemolytic anemia due to hexokinase deficiency

Non-syndromic anorectal malformation

Non-syndromic anorectal malformation with anal stenosis

Non-syndromic anorectal malformation with H-type fistula

Non-syndromic anorectal malformation with perineal fistula

Non-syndromic anorectal malformation with pouch colon

Non-syndromic anorectal malformation with rectal atresia

Non-syndromic anorectal malformation with rectal stenosis

Non-syndromic anorectal malformation with rectourethral fistula

Non-syndromic anorectal malformation with rectourethral fistula, bulbar type

Non-syndromic anorectal malformation with rectourethral fistula, prostatic type

Non-syndromic anorectal malformation with rectovaginal fistula

Non-syndromic anorectal malformation with rectovesical fistula

Non-syndromic anorectal malformation with vestibular fistula

Non-syndromic anorectal malformation without fistula

Non-syndromic bicoronal craniosynostosis

Non-syndromic bilambdoid and sagittal craniosynostosis

Non-syndromic cerebral malformation due to abnormal neuronal migration

Non-syndromic cloacal malformation

Non-syndromic craniosynostosis

Non-syndromic genetic deafness

Non-syndromic male infertility due to sperm motility disorder

Non-syndromic metopic craniosynostosis

Non-syndromic pontocerebellar hypoplasia

Non-syndromic renal or urinary tract malformation

Non-syndromic sagittal craniosynostosis

Non-syndromic supernumerary kidneys

Non-syndromic syndactyly

Non-syndromic unicoronal craniosynostosis

Non-syndromic unifrontosphenoidal craniosynostosis

Non-syndromic unilambdoid craniosynostosis

Non-syndromic unisquamosal craniosynostosis

Non-syndromic unisutural craniosynostosis

Non-syndromic urogenital tract malformation of female

Non-syndromic uterovaginal malformation

Non-terminal myelocystocele

Noonan syndrome

Noonan syndrome and Noonan-related syndrome

Noonan syndrome with multiple lentigines

Noonan syndrome-like disorder with juvenile myelomonocytic leukemia

Noonan syndrome-like disorder with loose anagen hair

Normosmic congenital hypogonadotropic hypogonadism

Norrie disease

NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance

NTHL1-related attenuated familial adenomatous polyposis

Null pituitary adenoma

Null syndrome

O’Sullivan-McLeod syndrome

Obesity due to CEP19 deficiency

Obesity due to congenital leptin deficiency

Obesity due to congenital leptin resistance

Obesity due to leptin receptor gene deficiency

Obesity due to melanocortin 4 receptor deficiency

Obesity due to pro-opiomelanocortin deficiency

Obesity due to prohormone convertase I deficiency

Obesity due to SIM1 deficiency

Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome

Occipital horn syndrome

Ocular albinism

Ocular albinism with late-onset sensorineural deafness

Ocular anomalies-axonal neuropathy-developmental delay syndrome

Ocular cystinosis

Oculo-auriculo-vertebral spectrum

Oculoauricular syndrome, Schorderet type

Oculoauriculovertebral spectrum with radial defects

Oculocerebral hypopigmentation syndrome, Cross type

Oculocerebral hypopigmentation syndrome, Preus type

Oculocerebrocutaneous syndrome

Oculocerebrofacial syndrome, Kaufman type

Oculocerebrorenal syndrome of Lowe

Oculocutaneous albinism

Oculocutaneous albinism type 1

Oculocutaneous albinism type 1A

Oculocutaneous albinism type 1B

Oculocutaneous albinism type 2

Oculocutaneous albinism type 3

Oculocutaneous albinism type 4

Oculocutaneous albinism type 5

Oculocutaneous albinism type 6

Oculocutaneous albinism type 7

Oculocutaneous albinism type 8

Oculocutaneous or ocular albinism

Oculodental syndrome, Rutherfurd type

Oculoectodermal syndrome

Oculofaciocardiodental syndrome

Oculogastrointestinal-neurodevelopmental syndrome

Oculopharyngeal muscular dystrophy

Oculotrichoanal syndrome

Odontohypophosphatasia

Odontoleukodystrophy

Okihiro syndrome

Okihiro syndrome due to 20q13 microdeletion

Okihiro syndrome due to a point mutation

Oligoarticular juvenile idiopathic arthritis

Oligoastrocytic tumor

Oligoastrocytoma

Oligodendroglial tumor

Oligodendroglioma

Oligodontia

Oligomeganephronia

Ollier disease

Omenn syndrome

Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome

Open spinal dysraphism

Open spinal dysraphism with a myelomeningocele

Open spinal dysraphism with a posterior meningocele

Opitz GBBB syndrome

Opsoclonus-myoclonus syndrome

Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome

Optic atrophy-intellectual disability syndrome

Organic aciduria

Ornithine transcarbamylase deficiency

Orofaciodigital syndrome type 1

Orofaciodigital syndrome type 14

Orofaciodigital syndrome type 2

Orofaciodigital syndrome type 6

Osgood-Schlatter disease

Osteochondrosis

Osteochondrosis of the tarsal bone

Osteocraniostenosis

Osteogenesis imperfecta

Osteogenesis imperfecta type 1

Osteogenesis imperfecta type 2

Osteogenesis imperfecta type 3

Osteogenesis imperfecta type 4

Osteogenesis imperfecta type 5

Osteomesopyknosis

Osteopathia striata-cranial sclerosis syndrome

Osteopetrosis and related disorders

Osteopetrosis with renal tubular acidosis

Osteopetrosis-hypogammaglobulinemia syndrome

Osteosarcoma

Osteosclerosis-ichthyosis-premature ovarian failure syndrome

Other immunodeficiency syndrome with predominantly antibody defects

Other immunodeficiency syndromes due to defects in innate immunity

Other metabolic disease with epilepsy

Otodental syndrome

Otopalatodigital syndrome spectrum disorder

Otopalatodigital syndrome type 1

Otopalatodigital syndrome type 2

Ovarian cancer

Ovarian dysgerminoma

Ovarioleukodystrophy

Overhydrated hereditary stomatocytosis

Overlap myositis

Posterior uveitis

Postinfectious cerebellitis

Postinfectious vasculitis

Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome

Postpoliomyelitis syndrome

Postsynaptic congenital myasthenic syndromes

Potassium-aggravated myotonia

PPARG-related familial partial lipodystrophy

PPoma

Prader-Willi syndrome

Prader-Willi syndrome due to imprinting mutation

Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15

Prader-Willi syndrome due to paternal 15q11q13 deletion

Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1

Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2

Prader-Willi syndrome due to translocation

Prader-Willi-like syndrome

Pre-Descemet corneal dystrophy

Precursor B-cell acute lymphoblastic leukemia

Precursor T-cell acute lymphoblastic leukemia

Predisposition to invasive fungal disease due to CARD9 deficiency

Predisposition to severe viral infection due to IRF7 deficiency

Predominantly large-vessel vasculitis

Predominantly medium-vessel vasculitis

Predominantly small-vessel vasculitis

Preeclampsia

Premature closure of the arterial duct

Prenatal benign hypophosphatasia

Prenatal-onset spinal muscular atrophy with congenital bone fractures

Prepubertal anorexia nervosa

Presynaptic congenital myasthenic syndromes

Primary acquired red cell aplasia

Primary adrenal insufficiency

Primary angiitis of the central nervous system

Primary biliary cholangitis

Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome

Primary CD59 deficiency

Primary central nervous system lymphoma

Primary ciliary dyskinesia

Primary congenital hypothyroidism

Primary congenital hypothyroidism without thyroid developmental anomaly

Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma

Primary cutaneous anaplastic large cell lymphoma

Primary cutaneous B-cell lymphoma

Primary cutaneous CD30+ T-cell lymphoproliferative disease

Primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma

Primary cutaneous gamma/delta-positive T-cell lymphoma

Primary cutaneous lymphoma

Primary cutaneous peripheral T-cell lymphoma not otherwise specified

Primary cutaneous plasmacytosis

Primary cutaneous T-cell lymphoma

Primary dystonia, DYT13 type

Primary dystonia, DYT17 type

Primary dystonia, DYT2 type

Primary dystonia, DYT21 type

Primary dystonia, DYT27 type

Primary dystonia, DYT4 type

Primary dystonia, DYT6 type

Primary early-onset glaucoma

Primary erythromelalgia

Primary familial polycythemia

Primary Fanconi renotubular syndrome

Primary germ cell tumor of central nervous system

Primary hemophagocytic lymphohistiocytosis

Primary hemophagocytic lymphohistiocytosis with hypopigmentation

Primary hyperaldosteronism-seizures-neurological abnormalities syndrome

Primary hypereosinophilic syndrome

Primary hypergonadotropic hypogonadism-partial alopecia syndrome

Primary hyperoxaluria

Primary hyperoxaluria type 1

Primary hyperoxaluria type 2

Primary hyperoxaluria type 3

Primary hypomagnesemia with hypercalciuria and nephrocalcinosis

Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement

Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement

Primary hypomagnesemia with secondary hypocalcemia

Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome

Primary hypomagnesemia-refractory seizures-intellectual disability syndrome

Primary hypophysitis

Primary immunodeficiency

Primary immunodeficiency due to a defect in adaptive immunity

Primary immunodeficiency due to a defect in innate immunity

Primary immunodeficiency syndrome due to P14/LAMTOR2 deficiency

Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency

Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection

Primary immunodeficiency with predisposition to severe viral infection

Primary inferior vena cava aneurysm

Primary interstitial lung disease in childhood and adulthood

Primary interstitial lung disease in childhood and adulthood due to alveolar structure disorder

Primary interstitial lung disease in childhood and adulthood due to alveolar vascular disorder

Primary interstitial lung disease specific to adulthood

Primary interstitial lung disease specific to childhood

Primary interstitial lung disease specific to childhood due to alveolar structure disorder

Primary interstitial lung disease specific to childhood due to alveolar vascular disorder

Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies

Primary intestinal lymphangiectasia

Primary intraocular lymphoma

Primary lateral sclerosis

Primary lipodystrophy

Primary localized amyloidosis

Primary lymphedema

Primary mediastinal large B-cell lymphoma

Primary megaureter, adult-onset form

Primary membranoproliferative glomerulonephritis

Primary membranous glomerulonephritis

Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome

Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome

Primary myelofibrosis

Primary non-gestational choriocarcinoma of ovary

Primary orthostatic tremor

Primary pediatric heart tumor

Primary polyarteritis nodosa

Primary progressive aphasia

Primary pulmonary vein stenosis

Primary sclerosing cholangitis

Primary short bowel syndrome

Primary Sjögren syndrome

Primary superior vena cava aneurysm

Primary syringomyelia

Primary systemic amyloidosis

Primary tethered cord syndrome

Primary unilateral adrenal hyperplasia

Primitive neuroectodermal tumor of the cervix uteri

Primitive neuroectodermal tumor of the corpus uteri

Primitive portal vein thrombosis

Progeroid syndrome, Petty type

Progressive autosomal recessive ataxia-deafness syndrome

Progressive cavitating leukoencephalopathy

Progressive cone dystrophy

Progressive encephalomyelitis with rigidity and myoclonus

Progressive epilepsy-intellectual disability syndrome, Finnish type

Progressive external ophthalmoplegia-myopathy-emaciation syndrome

Progressive familial intrahepatic cholestasis

Progressive familial intrahepatic cholestasis type 1

Progressive familial intrahepatic cholestasis type 2

Progressive familial intrahepatic cholestasis type 3

Progressive familial intrahepatic cholestasis type 4

Progressive familial intrahepatic cholestasis type 5

Progressive hemifacial atrophy

Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome

Progressive multifocal leukoencephalopathy

Progressive muscular atrophy

Progressive muscular dystrophy

Progressive myoclonic epilepsy

Progressive myoclonic epilepsy type 1

Progressive myoclonic epilepsy type 3

Progressive myoclonic epilepsy type 5

Progressive myoclonic epilepsy type 6

Progressive myoclonic epilepsy with dystonia

Progressive non-fluent aphasia

Progressive osseous heteroplasia

Progressive polyneuropathy with bilateral striatal necrosis

Progressive pseudorheumatoid arthropathy of childhood

Progressive supranuclear palsy

Progressive supranuclear palsy-corticobasal syndrome

Progressive supranuclear palsy-predominant parkinsonism syndrome

Progressive supranuclear palsy-progressive non-fluent aphasia syndrome

Progressive supranuclear palsy-pure akinesia with gait freezing syndrome

Prolactinoma

Prolidase deficiency

Properdin deficiency

Propionic acidemia

Proteasome-associated autoinflammatory syndrome

Proteus syndrome

Proteus-like syndrome

Proximal 16p11.2 microdeletion syndrome

Proximal 16p11.2 microduplication syndrome

Proximal myotonic myopathy

Proximal renal tubular acidosis

Proximal spinal muscular atrophy

Proximal spinal muscular atrophy type 1

Proximal spinal muscular atrophy type 2

Proximal spinal muscular atrophy type 3

Proximal spinal muscular atrophy type 4

Proximal Xq28 duplication syndrome

Prune belly syndrome

PsAPASH syndrome

Pseudo-von Willebrand disease

Pseudoachondroplasia

Pseudohypoaldosteronism type 1

Pseudohypoaldosteronism type 2

Pseudohypoaldosteronism type 2A

Pseudohypoaldosteronism type 2B

Pseudohypoaldosteronism type 2C

Pseudohypoaldosteronism type 2D

Pseudohypoaldosteronism type 2E

Pseudohypoparathyroidism

Pseudohypoparathyroidism type 1A

Pseudohypoparathyroidism type 1B

Pseudohypoparathyroidism type 1C

Pseudohypoparathyroidism type 2

Pseudohypoparathyroidism with Albright hereditary osteodystrophy

Pseudohypoparathyroidism without Albright hereditary osteodystrophy

Pseudoleprechaunism syndrome, Patterson type

Pseudomyxoma peritonei

Pseudopseudohypoparathyroidism

Pseudoxanthoma elasticum

Pseudoxanthomatous diffuse cutaneous mastocytosis

Psoriasis-related juvenile idiopathic arthritis

PTEN hamartoma tumor syndrome

Pterin-4 alpha-carbinolamine dehydratase deficiency

Pudendal nerve entrapment syndrome

Pulmonary arterial hypertension

Pulmonary arterial hypertension associated with another disease

Pulmonary arterial hypertension associated with chronic hemolytic anemia

Pulmonary arterial hypertension associated with congenital heart disease

Pulmonary arterial hypertension associated with connective tissue disease

Pulmonary arterial hypertension associated with HIV infection

Pulmonary arterial hypertension associated with portal hypertension

Pulmonary arterial hypertension associated with schistosomiasis

Pulmonary artery coming from patent ductus arteriosus

Pulmonary artery hypoplasia

Pulmonary artery or pulmonary branch anomaly

Pulmonary atresia with ventricular septal defect

Pulmonary atresia-intact ventricular septum syndrome

Pulmonary capillary hemangiomatosis

Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome

Pulmonary hypertension owing to lung disease and/or hypoxia

Pulmonary hypertension with unclear multifactorial mechanism

Pulmonary interstitial glycogenosis

Pulmonary non-tuberculous mycobacterial infection

Pulmonary valve agenesis

Pulmonary valve agenesis-intact ventricular septum-persistent ductus arteriosus syndrome

Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome

Pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis

Pulmonary venoocclusive disease

PUM1-associated developmental disability-ataxia-seizure syndrome

PUM1-related cerebellar ataxia

Punctate inner choroidopathy

PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome

PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation

Pure hereditary spastic paraplegia

Pure or complex autosomal dominant spastic paraplegia

Pure or complex autosomal recessive spastic paraplegia

Pure or complex hereditary spastic paraplegia

Pure or complex X-linked spastic paraplegia

Purine nucleoside phosphorylase deficiency

Pustular pyoderma gangrenosum

Pycnodysostosis

PYCR1-related De Barsy syndrome

PYCR2-related microcephaly-progressive leukoencephalopathy

Pyoderma gangrenosum

Pyridoxal phosphate-responsive seizures

Pyridoxine-dependent epilepsy

Pyruvate carboxylase deficiency

Pyruvate carboxylase deficiency, benign type

Pyruvate carboxylase deficiency, infantile type

Pyruvate carboxylase deficiency, severe neonatal type

Pyruvate dehydrogenase deficiency

Pyruvate dehydrogenase E1-alpha deficiency

Pyruvate dehydrogenase E1-beta deficiency

Pyruvate dehydrogenase E2 deficiency

Pyruvate dehydrogenase E3 deficiency

Pyruvate dehydrogenase E3-binding protein deficiency

Pyruvate dehydrogenase phosphatase deficiency

Q fever

QRSL1-related combined oxidative phosphorylation defect

Quadricuspid aortic valve

Qualitative or quantitative defects of caveolin-3

Qualitative or quantitative defects of collagen 6

Qualitative or quantitative defects of dysferlin

Quantitative and/or qualitative congenital phagocyte defect

Quebec platelet disorder

Rabies

Rabson-Mendenhall syndrome

Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome

Ramon syndrome

Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome

Rapid-onset dystonia-parkinsonism

Rapidly involuting congenital hemangioma

Rare acquired aplastic anemia

Rare acquired premature ovarian failure

Rare adenocarcinoma of the breast

Rare adrenocortical nodular disease

Rare adrenocortical nodular disease with Cushing syndrome as a major feature

Rare aplastic anemia

Rare arteriovenous malformation

Rare ataxia

Rare atrial defect and interatrial communication

Rare autosomal dominant non-syndromic sensorineural deafness type DFNA

Rare autosomal recessive non-syndromic sensorineural deafness type DFNB

Rare cancer of cervix uteri

Rare cancer of corpus uteri

Rare carcinoma of pancreas

Rare carcinoma of stomach

Rare cardiac rhythm disease

Rare cardiomyopathy

Rare cause of hypertension

Rare congenital anomaly of ventricular septum

Rare congenital non-syndromic heart malformation

Rare constitutional aplastic anemia

Rare constitutional hemolytic anemia

Rare constitutional hemolytic anemia due to a red cell membrane anomaly

Rare constitutional hemolytic anemia due to an enzyme disorder

Rare cutaneous lupus erythematosus

Rare developmental defect during embryogenesis

Rare disease with adrenal Cushing syndrome as a major feature

Rare disease with autism

Rare disease with Pierre Robin syndrome

Rare disease with thoracic aortic aneurysm and aortic dissection

Rare disorder with a moyamoya angiopathy

Rare disorder with dystonia and other neurologic or systemic manifestation

Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism

Rare disorder with multisystemic involvement and congenital hypogonadotropic hypogonadism

Rare dyslipidemia

Rare dystonia

Rare epilepsy

Rare epithelial tumor of stomach

Rare familial disorder with hypertrophic cardiomyopathy

Rare female infertility due to a congenital hypogonadotropic hypogonadism

Rare genetic deafness

Rare genetic developmental defect during embryogenesis

Rare genetic premature ovarian failure

Rare hemorrhagic disorder due to a coagulation factors defect

Rare hemorrhagic disorder due to a constitutional coagulation factors defect

Rare hemorrhagic disorder due to a constitutional platelet anomaly

Rare hemorrhagic disorder due to a constitutional thrombocytopenia

Rare hemorrhagic disorder due to a platelet anomaly

Rare hemorrhagic disorder due to a qualitative platelet defect

Rare hemorrhagic disorder due to an acquired coagulation factor defect

Rare hemorrhagic disorder due to an acquired platelet anomaly

Rare hereditary hemochromatosis

Rare hypercholesterolemia

Rare hyperlipidemia

Rare hyperparathyroidism

Rare hyperthyroidism

Rare hypertrophic cardiomyopathy

Rare hypoparathyroidism

Rare infantile hemangioma

Rare intellectual disability

Rare lichen planus

Rare lymphatic malformation

Rare malignant breast tumor

Rare mitochondrial non-syndromic sensorineural deafness

Rare nervous system tumor

Rare non surgically correctable form of primary aldosteronism

Rare non-acquired premature ovarian failure

Rare non-syndromic intellectual disability

Rare otorhinolaryngologic tumor

Rare pediatric vasculitis

Rare peripheral neuropathy

Rare pervasive developmental disorder

Rare primary hyperaldosteronism

Rare pulmonary hypertension

Rare renal tubular disease

Rare retinal disorder

Rare surgical cardiac disease

Rare surgically correctable form of primary aldosteronism

Rare syndrome with cardiac malformations

Rare thrombotic disorder due to a coagulation factors defect

Rare thrombotic disorder due to a constitutional coagulation factors defect

Rare thrombotic disorder due to an acquired coagulation factors defect

Rare thyroid carcinoma

Rare thyroid tumor

Rare tumor of neuroepithelial tissue

Rare tumor of salivary glands

Rare urticaria

Rare vascular liver disease

Rare vascular tumor

Rare vulvovaginal tumor

RAS-associated autoimmune leukoproliferative disease

Rasmussen subacute encephalitis

Recessive dystrophic epidermolysis bullosa inversa

Recessive mitochondrial ataxia syndrome

Recessive X-linked ichthyosis

Recurrent infections associated with rare immunoglobulin isotypes deficiency

Recurrent infections due to specific granule deficiency

Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome

Recurrent Neisseria infections due to factor D deficiency

Recurrent respiratory papillomatosis

Refractory anemia with excess blasts in transformation

Refractory cytopenia with multilineage dysplasia

Refsum disease

Regional variant of Guillain-Barré syndrome

Reis-Bücklers corneal dystrophy

RELA fusion-positive ependymoma

Relapsing fever

Relapsing polychondritis

REN-related autosomal dominant tubulointerstitial kidney disease

Renal agenesis

Renal agenesis, bilateral

Renal agenesis, unilateral

Renal cell carcinoma

Renal coloboma syndrome

Renal dysplasia

Renal dysplasia, bilateral

Renal dysplasia, unilateral

Renal hypoplasia

Renal hypoplasia, bilateral

Renal hypoplasia, unilateral

Renal medullary carcinoma

Renal pseudohypoaldosteronism type 1

Renal tubular dysgenesis

Renal tubular dysgenesis due to twin-twin transfusion

Renal tubular dysgenesis of genetic origin

Renin-angiotensin-aldosterone system-blocker-induced angioedema

RERE-related neurodevelopmental syndrome

Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha

Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta

Resistance to thyrotropin-releasing hormone syndrome

Respiratory bronchiolitis-interstitial lung disease syndrome

Restrictive cardiomyopathy

Retained medullary cord

Reticular dysgenesis

Retiform hemangioendothelioma

Retinal capillary malformation

Retinal ciliopathy due to mutation in Bardet-Biedl gene

Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies

Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations

Retinitis pigmentosa

Retinoblastoma

Retinopathy of prematurity

Rett syndrome

Reversible cerebral vasoconstriction syndrome

Revesz syndrome

Reynolds syndrome

RFT1-CDG

RFVT2-related riboflavin transporter deficiency

Rh deficiency syndrome

Rhabdoid tumor

Rhabdoid tumor predisposition syndrome

Rhabdomyosarcoma

Rhabdomyosarcoma of the cervix uteri

Rhabdomyosarcoma of the corpus uteri

Rheumatic fever

Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis

Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis

Rhizomelic chondrodysplasia punctata

Rhizomelic chondrodysplasia punctata type 1

Rhizomelic chondrodysplasia punctata type 2

Rhizomelic chondrodysplasia punctata type 3

Riboflavin transporter deficiency

Richards-Rundle syndrome

RIDDLE syndrome

Right aortic arch

Right inferior vena cava connecting to left-sided atrium

Right sided atrial isomerism

Right superior vena cava connecting to left-sided atrium

Rigid spine syndrome

Ring chromosome 1 syndrome

Ring chromosome 9 syndrome

Ring chromosome 13 syndrome

Ring chromosome 14 syndrome

Ring chromosome 15 syndrome

Ring chromosome 17 syndrome

Ring chromosome 18 syndrome

Ring chromosome 2 syndrome

Ring chromosome 20 syndrome

Ring chromosome 21 syndrome

Ring chromosome 22 syndrome

RNF13-related severe early-onset epileptic encephalopathy

Roberts syndrome

Robinow syndrome

Roifman syndrome

Rolandic epilepsy-speech dyspraxia syndrome

Romano-Ward syndrome

Rosaï-Dorfman disease

Rosette-forming glioneuronal tumor

Rothmund-Thomson syndrome

Rothmund-Thomson syndrome type 1

Rothmund-Thomson syndrome type 2

Rotor syndrome

Roussy-Lévy syndrome

Rubella panencephalitis

Rubinstein-Taybi syndrome

Rubinstein-Taybi syndrome due to 16p13.3 microdeletion

Rubinstein-Taybi syndrome due to CREBBP mutations

Rubinstein-Taybi syndrome due to EP300 haploinsufficiency

Saccular spinal dysraphism with a stalk to the dome

Saethre-Chotzen syndrome

Salivary gland type cancer of the breast

Salla disease

SAMD9L-associated autoinflammatory syndrome

Sandhoff disease

Sandhoff disease, adult form

Sandhoff disease, infantile form

Sandhoff disease, juvenile form

Sanfilippo syndrome type A

Sanfilippo syndrome type B

Sanfilippo syndrome type C

Sanfilippo syndrome type D

SAPHO syndrome

Sarcoidosis

Sarcoma of cervix uteri

Sarcoma of the corpus uteri

SATB2-associated syndrome

SATB2-associated syndrome due to a chromosomal rearrangement

SATB2-associated syndrome due to a pathogenic variant

Say-Barber-Miller syndrome

Scapuloperoneal spinal muscular atrophy

Scheie syndrome

Schimke immuno-osseous dysplasia

Schistosomiasis

Schizencephaly

Schnitzler syndrome

Schnyder corneal dystrophy

Schuurs-Hoeijmakers syndrome

Schwartz-Jampel syndrome

Scimitar syndrome

Scleroderma

Sclerosing cholangitis

Sclerosteosis

Scott syndrome

Sea-blue histiocytosis

Seckel syndrome

Secondary hemophagocytic lymphohistiocytosis

Secondary hypereosinophilic syndrome

Secondary hypoparathyroidism due to impaired parathormon secretion

Secondary interstitial lung disease in childhood and adulthood

Secondary interstitial lung disease in childhood and adulthood associated with a connective tissue disease

Secondary interstitial lung disease in childhood and adulthood associated with a metabolic disease

Secondary interstitial lung disease in childhood and adulthood associated with a systemic disease

Secondary interstitial lung disease in childhood and adulthood associated with a systemic vasculitis

Secondary interstitial lung disease specific to adulthood associated with a systemic disease

Secondary interstitial lung disease specific to childhood associated with a connective tissue disease

Secondary interstitial lung disease specific to childhood associated with a granulomatous disease

Secondary interstitial lung disease specific to childhood associated with a metabolic disease

Secondary interstitial lung disease specific to childhood associated with a systemic disease

Secondary interstitial lung disease specific to childhood associated with a systemic vasculitis

Secondary polyarteritis nodosa

Secondary polycythemia

Secondary pulmonary alveolar proteinosis

Secondary pulmonary hemosiderosis

Secondary sclerosing cholangitis

Secondary short bowel syndrome

Secondary syringomyelia

Secondary vasculitis

Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome

Segmental progressive overgrowth syndrome with fibroadipose hyperplasia

Selective IgM deficiency

Self-improving collodion baby

Self-improving dystrophic epidermolysis bullosa

Self-limited childhood occipital epilepsy

Self-limited epilepsy with autonomic seizures

Self-limited epilepsy with centrotemporal spikes

Self-limited infantile epilepsy

Self-limited neonatal epilepsy

Self-limited neonatal-infantile epilepsy

Semantic dementia

Semilobar holoprosencephaly

Senior-Boichis syndrome

Senior-Loken syndrome

Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome

Septate uterus

Septo-optic dysplasia spectrum

Septopreoptic holoprosencephaly

Seronegative autoimmune hepatitis

Serotonin syndrome

Serous carcinoma of the corpus uteri

Serous cystadenocarcinoma of pancreas

Serpiginous choroiditis

Serrated polyposis syndrome

SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome

Severe acute respiratory syndrome

Severe autosomal recessive macrothrombocytopenia

Severe Canavan disease

Severe combined immunodeficiency

Severe combined immunodeficiency due to adenosine deaminase deficiency

Severe combined immunodeficiency due to complete RAG1/2 deficiency

Severe combined immunodeficiency due to CORO1A deficiency

Severe combined immunodeficiency due to DCLRE1C deficiency

Severe combined immunodeficiency due to DNA-PKcs deficiency

Severe combined immunodeficiency due to FOXN1 deficiency

Severe combined immunodeficiency due to IKK2 deficiency

Severe combined immunodeficiency due to LCK deficiency

Severe congenital nemaline myopathy

Severe congenital neutropenia

Severe congenital neutropenia due to G6PC3 deficiency

Severe congenital neutropenia due to JAGN1 deficiency

Severe dermatitis-multiple allergies-metabolic wasting syndrome

Severe early-childhood-onset retinal dystrophy

Severe early-onset axonal neuropathy due to MFN2 deficiency

Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency

Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency

Severe generalized junctional epidermolysis bullosa

Severe hemophilia A

Severe hemophilia B

Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome

Severe intellectual disability and progressive spastic paraplegia

Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome

Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome

Severe intellectual disability-progressive spastic diplegia syndrome

Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome

Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion

Severe neonatal-onset encephalopathy with microcephaly

Severe neurodegenerative syndrome with lipodystrophy

Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract

Severe oculo-renal-cerebellar syndrome

Severe phosphoribosylpyrophosphate synthetase superactivity

Severe primary trimethylaminuria

Sex chromosome difference of sex development

Sheldon-Hall syndrome

Shiga toxin-associated hemolytic uremic syndrome

Shone complex

Short bowel syndrome

Short chain acyl-CoA dehydrogenase deficiency

Short rib-polydactyly syndrome, Saldino-Noonan type

Short stature due to GHSR deficiency

Short stature-advanced bone age-early-onset osteoarthritis syndrome

Short stature-brachydactyly-obesity-global developmental delay syndrome

Short stature-delayed bone age due to thyroid hormone metabolism deficiency

Short stature-pituitary and cerebellar defects-small sella turcica syndrome

SHORT syndrome

Short-limb skeletal dysplasia with severe combined immunodeficiency

SHOX-related short stature

Shprintzen-Goldberg syndrome

Shwachman-Diamond syndrome

Sialidosis type 1

Sialidosis type 2

Sialuria

Sickle cell anemia

Sickle cell disease and related diseases

Sickle cell disease associated with another hemoglobin anomaly

Sickle cell-beta-thalassemia disease syndrome

Sickle cell-hemoglobin C disease syndrome

Sickle cell-hemoglobin D disease syndrome

Sickle cell-hemoglobin E disease syndrome

Silent pituitary adenoma

Silver-Russell syndrome

Silver-Russell syndrome due to 11p15 microduplication

Silver-Russell syndrome due to 7p11.2p13 microduplication

Silver-Russell syndrome due to a point mutation

Silver-Russell syndrome due to an imprinting defect of 11p15

Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11

Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7

SIM1-related Prader-Willi-like syndrome

Simple cryoglobulinemia

Simpson-Golabi-Behmel syndrome

Sinding-Larsen-Johansson disease

Single-organ polyarteritis nodosa

Singleton-Merten dysplasia

Sitosterolemia

Situs ambiguus

Situs inversus totalis

Sjögren-Larsson syndrome

Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome

Skeletal Ewing sarcoma

SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome

SLC12A2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome

SLC35A1-CDG

SLC35A2-CDG

SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome

SLC39A8-CDG

SLC40A1-related hemochromatosis

Small cell carcinoma of the bladder

Small cell carcinoma of the ovary

Small cell lung cancer

SMARCA4-deficient sarcoma of thorax

Smith-Lemli-Opitz syndrome

Smith-Magenis syndrome

Smith-McCort dysplasia

Smoldering systemic mastocytosis

Sneddon syndrome

Soft tissue sarcoma

Solar urticaria

Solid pseudopapillary carcinoma of pancreas

Solitary bone cyst

Solitary fibrous tumor

Somatomammotropinoma

Somatostatinoma

Somatotropic adenoma

Sotos syndrome

Southeast Asian ovalocytosis

Spastic ataxia

Spastic ataxia with congenital miosis

Spastic ataxia-corneal dystrophy syndrome

Spastic ataxia-dysarthria due to glutaminase deficiency

Spastic paraplegia type 2

Spastic paraplegia type 7

Spastic paraplegia-facial-cutaneous lesions syndrome

Spastic paraplegia-glaucoma-intellectual disability syndrome

Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome

Spastic paraplegia-nephritis-deafness syndrome

Spastic paraplegia-neuropathy-poikiloderma syndrome

Spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder

Spastic paraplegia-optic atrophy-neuropathy syndrome

Spastic paraplegia-Paget disease of bone syndrome

Spastic paraplegia-precocious puberty syndrome

Spastic paraplegia-severe developmental delay-epilepsy syndrome

Specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells

Spectrin-associated autosomal recessive cerebellar ataxia

Spermatocytic seminoma

Spheroid body myopathy

Spina bifida and other spinal dysraphisms

Spinal arteriovenous metameric syndrome

Spinal atrophy-ophthalmoplegia-pyramidal syndrome

Spinal cord injury

Spinal dermal sinus

Spinal dysraphism with a posterior meningocele

Spinal muscular atrophy associated with central nervous system anomaly

Spinal muscular atrophy with respiratory distress type 1

Spinal muscular atrophy with respiratory distress type 2

Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome

Spindle cell hemangioma

Spinocerebellar ataxia type 1

Spinocerebellar ataxia type 4

Spinocerebellar ataxia type 5

Spinocerebellar ataxia type 6

Spinocerebellar ataxia type 7

Spinocerebellar ataxia type 8

Spinocerebellar ataxia type 10

Spinocerebellar ataxia type 11

Spinocerebellar ataxia type 12

Spinocerebellar ataxia type 13

Spinocerebellar ataxia type 14

Spinocerebellar ataxia type 15/16

Spinocerebellar ataxia type 17

Spinocerebellar ataxia type 18

Spinocerebellar ataxia type 19/22

Spinocerebellar ataxia type 2

Spinocerebellar ataxia type 20

Spinocerebellar ataxia type 21

Spinocerebellar ataxia type 23

Spinocerebellar ataxia type 25

Spinocerebellar ataxia type 26

Spinocerebellar ataxia type 27A

Spinocerebellar ataxia type 28

Spinocerebellar ataxia type 29

Spinocerebellar ataxia type 3

Spinocerebellar ataxia type 30

Spinocerebellar ataxia type 31

Spinocerebellar ataxia type 32

Spinocerebellar ataxia type 34

Spinocerebellar ataxia type 35

Spinocerebellar ataxia type 36

Spinocerebellar ataxia type 37

Spinocerebellar ataxia type 38

Spinocerebellar ataxia type 40

Spinocerebellar ataxia type 41

Spinocerebellar ataxia type 42

Spinocerebellar ataxia type 43

Spinocerebellar ataxia type 44

Spinocerebellar ataxia type 45

Spinocerebellar ataxia type 46

Spinocerebellar ataxia type 48

Spinocerebellar ataxia type 49

Spinocerebellar ataxia with axonal neuropathy type 1

Spinocerebellar ataxia with axonal neuropathy type 2

Spinocerebellar ataxia with epilepsy

Spinocerebellar ataxia-dysmorphism syndrome

Spinocerebellar degeneration-corneal dystrophy syndrome

Split cord malformation

Split cord malformation type I

Split cord malformation type II

Split cord malformation, composite type

Spondylocarpotarsal synostosis

Spondylodysplastic Ehlers-Danlos syndrome

Spondyloenchondrodysplasia

Spondyloepimetaphyseal dysplasia congenita, Strudwick type

Spondyloepimetaphyseal dysplasia, aggrecan type

Spondyloepimetaphyseal dysplasia, Maroteaux type

Spondyloepiphyseal dysplasia congenita

Spondyloepiphyseal dysplasia tarda

Spondyloepiphyseal dysplasia, Kimberley type

Spondylometaphyseal dysplasia, ‘corner fracture’ type

Spondylometaphyseal dysplasia, Kozlowski type

Spondyloperipheral dysplasia-short ulna syndrome

Sporadic adult-onset ataxia of unknown etiology

Sporadic Creutzfeldt-Jakob disease

Sporadic pheochromocytoma/secreting paraganglioma

Squamous cell carcinoma of gallbladder and extrahepatic biliary tract

Squamous cell carcinoma of liver and intrahepatic biliary tract

Squamous cell carcinoma of pancreas

Squamous cell carcinoma of the cervix uteri

Squamous cell carcinoma of the corpus uteri

Squamous cell carcinoma of the esophagus

Squamous cell carcinoma of the penis

Squamous cell carcinoma of the stomach

SRD5A3-CDG

SSR4-CDG

St. Louis encephalitis

Stargardt disease

STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome

STAT3-related early-onset multisystem autoimmune disease

Steinert myotonic dystrophy

Sterile multifocal osteomyelitis with periostitis and pustulosis

Steroid-responsive encephalopathy associated with autoimmune thyroiditis

Sterol metabolism disorder with epilepsy

Stevens-Johnson syndrome

Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome

Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum

Stickler syndrome

Stickler syndrome type 1

Stickler syndrome type 2

Stiff person spectrum disorder

STING-associated vasculopathy with onset in infancy

Stormorken-Sjaastad-Langslet syndrome

Straddling and/or overriding mitral valve

Straddling or overriding tricuspid valve

Streptococcus pneumoniae-associated hemolytic uremic syndrome

Stromal corneal dystrophy

Stromme syndrome

Strongyloidiasis

STT3A-CDG

STT3B-CDG

Sturge-Weber syndrome

STXBP1-related encephalopathy

Stüve-Wiedemann syndrome

Subacute sclerosing leukoencephalitis

Subaortic course of innominate vein

Subcortical band heterotopia

Subcutaneous panniculitis-like T-cell lymphoma

Subependymal giant cell astrocytoma

Subependymoma

Subepithelial mucinous corneal dystrophy

Submucosal cleft palate

Subpulmonary stenosis

Succinic semialdehyde dehydrogenase deficiency

Succinyl-CoA:3-oxoacid CoA transferase deficiency

Sulfite oxidase deficiency due to molybdenum cofactor deficiency

Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A

Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B

Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C

Superficial corneal dystrophy

Superficial epidermolytic ichthyosis

Superficial pemphigus

Superficial siderosis

Supravalvular aortic stenosis

Supravalvular pulmonary stenosis

SURF1-related Charcot-Marie-Tooth disease type 4

Susac syndrome

Susceptibility to infection due to TYK2 deficiency

Susceptibility to localized juvenile periodontitis

Susceptibility to respiratory infections associated with CD8alpha chain mutation

Susceptibility to viral and mycobacterial infections due to STAT1 deficiency

Sweet syndrome

Sydenham chorea

Symbrachydactyly of hands and feet

Sympathetic ophthalmia

Symptomatic form of Coffin-Lowry syndrome in female carriers

Symptomatic form of fragile X syndrome in female carriers

Symptomatic form of HFE-related hemochromatosis

Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers

Synaptic congenital myasthenic syndromes

Syndactyly type 1

Syndactyly type 2

Syndactyly type 3

Syndactyly type 4

Syndactyly type 5

Syndactyly-telecanthus-anogenital and renal malformations syndrome

Syndome with combined immunodeficiency due to thymic defect

Syndrome associated with hypertrophic cardiomyopathy

Syndrome with 46,XX difference of sex development

Syndrome with 46,XY difference of sex development

Syndrome with alpha-thalassemia as a major feature

Syndrome with combined immunodeficiency

Syndrome with congenital neutropenia as a major feature

Syndrome with microcephaly as a major feature

Syndrome with pulmonary hypertension as a major feature

Syndromic agammaglobulinemia

Syndromic aniridia

Syndromic anorectal malformation

Syndromic constitutional thrombocytopenia

Syndromic corneal dystrophy

Syndromic craniosynostosis

Syndromic diarrhea

Syndromic genetic deafness

Syndromic hereditary optic neuropathy

Syndromic hypothyroidism

Syndromic microphthalmia type 5

Syndromic microphthalmia-anophthalmia-coloboma

Syndromic multisystem autoimmune disease due to Itch deficiency

Syndromic obesity

Syndromic oculocutaneous albinism

Syndromic recessive X-linked ichthyosis

Syndromic rod-cone dystrophy

SYNGAP1-related developmental and epileptic encephalopathy

Synovial sarcoma

Syringomyelia

Systemic capillary leak syndrome

Systemic disease with glomerulopathy as a major feature

Systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood

Systemic lupus erythematosus

Systemic mastocytosis

Systemic mastocytosis with associated hematologic neoplasm

Systemic polyarteritis nodosa

Systemic primary carnitine deficiency

Systemic sclerosis

Systemic vasculitis associated with glomerulopathy

Systemic-onset juvenile idiopathic arthritis

Sézary syndrome

T+ B+ severe combined immunodeficiency

T-B+ severe combined immunodeficiency

T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta

T-B+ severe combined immunodeficiency due to CD45 deficiency

T-B+ severe combined immunodeficiency due to gamma chain deficiency

T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency

T-B+ severe combined immunodeficiency due to JAK3 deficiency

T-B- severe combined immunodeficiency

T-cell immunodeficiency with epidermodysplasia verruciformis

T-cell immunodeficiency with thymic aplasia

T-cell non-Hodgkin lymphoma

T-cell prolymphocytic leukemia

T-cell/histiocyte rich large B cell lymphoma

TAFRO syndrome

Takayasu arteritis

Takenouchi-Kosaki syndrome

Tako-Tsubo cardiomyopathy

Tangier disease

TARP syndrome

Tatton-Brown-Rahman syndrome

Tay-Sachs disease

Tay-Sachs disease, adult form

Tay-Sachs disease, infantile form

Tay-Sachs disease, juvenile form

TBCK-related intellectual disability syndrome

TCR-alpha-beta-positive T-cell deficiency

Telangiectasia macularis eruptiva perstans

Telethonin-related limb-girdle muscular dystrophy R7

Temperature-sensitive oculocutaneous albinism type 1

Temple syndrome due to maternal uniparental disomy of chromosome 14

Teratoma of the central nervous system

Terminal myelocystocele

Testicular seminomatous germ cell tumor

Tetanus

Tetraamelia-multiple malformations syndrome

Tetragametic chimerism

Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria

Tetralogy of Fallot

Tetrasomy 12p

Tetrasomy 18p

Tetrasomy 9p

Tetrasomy X

TFR2-related hemochromatosis

Thanatophoric dysplasia

Thanatophoric dysplasia type 1

Thanatophoric dysplasia type 2

Theca steroid-producing cell malignant tumor of ovary, not further specified

Therapy related acute myeloid leukemia and myelodysplastic syndrome

Thiamine-responsive encephalopathy

Thiamine-responsive maple syrup urine disease

Thiamine-responsive megaloblastic anemia syndrome

Thiel-Behnke corneal dystrophy

Thiemann disease, familial form

THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome

Thomsen and Becker disease

Thrombocytopenia with congenital dyserythropoietic anemia

Thrombocytopenia-absent radius syndrome

Thrombomodulin-related bleeding disorder

Thrombotic microangiopathy

Thrombotic thrombocytopenic purpura

Thymic carcinoma

Thymic neuroendocrine carcinoma

Thymic neuroendocrine tumor

Thymoma

Thymoma type A

Thymoma type AB

Thymoma type B

Thyroid ectopia

Thyroid hemiagenesis

Thyroid hypoplasia

Tibial muscular dystrophy

Tick-borne encephalitis

Timothy syndrome

Timothy syndrome type 1

Timothy syndrome type 2

Titin-related limb-girdle muscular dystrophy R10

TMEM165-CDG

TMEM199-CDG

TNP03-related limb-girdle muscular dystrophy D2

TOR1AIP1-related limb-girdle muscular dystrophy

Toriello-Carey syndrome

Townes-Brocks syndrome

Toxic epidermal necrolysis

Tracheal agenesis

Tracheobronchopathia osteochondroplastica

TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome

Transcobalamin deficiency

Transient congenital hypothyroidism

Transient congenital hypothyroidism due to maternal factor

Transient congenital hypothyroidism due to neonatal factor

Transient hypogammaglobulinemia of infancy

Transient myeloproliferative syndrome

Transient neonatal diabetes mellitus

Transient neonatal myasthenia gravis

Transitional cell carcinoma of the corpus uteri

Transposition of the great arteries

Transposition of the great arteries and conotruncal cardiac anomaly

TRAPPC11-related limb-girdle muscular dystrophy R18

Treacher-Collins syndrome

Tremor-ataxia-central hypomyelination syndrome

Triatrial heart

Trichodysplasia-amelogenesis imperfecta syndrome

Trichodysplasia-xeroderma syndrome

Trichomegaly-retina pigmentary degeneration-dwarfism syndrome

Trichorhinophalangeal syndrome

Trichorhinophalangeal syndrome type 1

Trichorhinophalangeal syndrome type 2

Trichothiodystrophy

Tricuspid atresia

Tricuspid valve agenesis

Trigeminal autonomic cephalalgia

Trigeminal neuralgia

TRIM32-related limb-girdle muscular dystrophy R8

Triose phosphate-isomerase deficiency

Triple A syndrome

Triploidy

Trisomy 10p

Trisomy 12p

Trisomy 13

Trisomy 17p

Trisomy 18

Trisomy 18p

Trisomy 1q

Trisomy 20p

Trisomy 4p

Trisomy 5p

Trisomy 8p

Trisomy 8q

Trisomy 9p

Trisomy X

Tropical spastic paraparesis

TRPV4-related bone disorder

True myelomeningocele

True myeloschisis

TSH-secreting pituitary adenoma

Tuberculosis

Tuberous sclerosis complex

Tubulinopathy-associated dysgyria

Tubulocystic renal cell carcinoma

Tubulointerstitial nephritis and uveitis syndrome

Tufted angioma

Tumor necrosis factor receptor 1 associated periodic syndrome

Tunnel subaortic stenosis

Turcot syndrome with polyposis

Turner syndrome

Turner syndrome due to structural X chromosome anomalies

Type 2 collagen-related bone disorder

Typical nemaline myopathy

Typical urticaria pigmentosa

Tyrosinemia type 1

Ullrich congenital muscular dystrophy

UMOD-related autosomal dominant tubulointerstitial kidney disease

Unclassified acute myeloid leukemia

Unclassified myelodysplastic syndrome

Unclassified vasculitis

Undifferentiated carcinoma of esophagus

Undifferentiated carcinoma of liver and intrahepatic biliary tract

Undifferentiated carcinoma of stomach

Undifferentiated carcinoma of the corpus uteri

Undifferentiated carcinoma with osteoclast-like giant cells of pancreas

Undifferentiated pleomorphic sarcoma

Unicentric Castleman disease

Unilateral congenital megacalycosis

Unilateral multicystic dysplastic kidney

Univentricular cardiopathy

Univentricular heart

Unspecified juvenile idiopathic arthritis

Unspecified mitochondrial disorder

Unstable hemoglobin disease

Urachal cyst

Urachal diverticulum

Urachal sinus

Urban-Rogers-Meyer syndrome

Urofacial syndrome

Usher syndrome

Usher syndrome type 1

Usher syndrome type 2

Usher syndrome type 3

Uterine cervical aplasia and agenesis

Uterine hypoplasia

Uveitis

VACTERL/VATER association

Vaginal carcinoma

Valvular pulmonary stenosis

Van den Ende-Gupta syndrome

Van der Woude syndrome

Variant ABeta2M amyloidosis

Variant Creutzfeldt-Jakob disease

Variant of Guillain-Barré syndrome

Variegate porphyria

Vascular Ehlers-Danlos syndrome

Vasculitis

Vegetative pyoderma gangrenosum

Vein of Galen aneurysmal malformation

Vernal keratoconjunctivitis

Verrucous hemangioma

Very long chain acyl-CoA dehydrogenase deficiency

Vestibular schwannoma

VEXAS syndrome

Vibratory urticaria

Vici syndrome

VIPoma

Viral hemorrhagic fever

Vitamin B12-responsive methylmalonic acidemia

Vitamin B12-responsive methylmalonic acidemia type cblA

Vitamin B12-responsive methylmalonic acidemia type cblB

Vitamin B12-responsive methylmalonic acidemia, type cblDv2

Vitamin B12-unresponsive methylmalonic acidemia

Vitamin B12-unresponsive methylmalonic acidemia type mut-

Vitamin B12-unresponsive methylmalonic acidemia type mut0

Vitreoretinopathy

Vogt-Koyanagi-Harada disease

Von Hippel-Lindau disease

Von Voss-Cherstvoy syndrome

Von Willebrand disease

Von Willebrand disease type 1

Von Willebrand disease type 2

Von Willebrand disease type 2A

Von Willebrand disease type 2B

Von Willebrand disease type 2M

Von Willebrand disease type 2N

Von Willebrand disease type 3

Vulvar intraepithelial neoplasia

Vulvovaginal rhabdomyosarcoma

W syndrome

Waardenburg syndrome

Waardenburg syndrome type 1

Waardenburg syndrome type 2

Waardenburg syndrome type 3

Waardenburg-Shah syndrome

WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome

Wagner disease

WAGR syndrome

Waldenström macroglobulinemia

Walker-Warburg syndrome

WARS2-related combined oxidative phosphorylation defect

Warsaw breakage syndrome

Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome

Waterhouse-Friderichsen syndrome

Weaver syndrome

Weill-Marchesani syndrome

Weiss-Kruszka Syndrome

Well-differentiated liposarcoma

Well-differentiated thymic neuroendocrine carcinoma

Werner syndrome

West-Nile encephalitis

Western equine encephalitis

WHIM syndrome

Whipple disease

White platelet syndrome

White-Sutton syndrome

Wiedemann-Rautenstrauch syndrome

Wiedemann-Steiner syndrome

Wild type ABeta2M amyloidosis

Wild type ATTR amyloidosis

Williams syndrome

Williams-Campbell syndrome

Wilson disease

Wiskott-Aldrich syndrome

Wolcott-Rallison syndrome

Wolf-Hirschhorn syndrome

Wolfram syndrome

Wolfram-like syndrome

Wolman disease

Woodhouse-Sakati syndrome

Woolly hair

Worster-Drought syndrome

Wrinkly skin syndrome

WT limb-blood syndrome

Wyburn-Mason syndrome

X small rings

X-linked acrogigantism

X-linked adrenal hypoplasia congenita

X-linked adrenoleukodystrophy

X-linked agammaglobulinemia

X-linked alpha-thalassemia-intellectual disability syndrome

X-linked Alport syndrome

X-linked Alport syndrome-diffuse leiomyomatosis

X-linked central congenital hypothyroidism with late-onset testicular enlargement

X-linked centronuclear myopathy

X-linked cerebellar ataxia

X-linked cerebral adrenoleukodystrophy

X-linked Charcot-Marie-Tooth disease

X-linked Charcot-Marie-Tooth disease type 1

X-linked Charcot-Marie-Tooth disease type 2

X-linked Charcot-Marie-Tooth disease type 3

X-linked Charcot-Marie-Tooth disease type 4

X-linked Charcot-Marie-Tooth disease type 5

X-linked Charcot-Marie-Tooth disease type 6

X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome

X-linked complex spastic paraplegia

X-linked complicated corpus callosum dysgenesis

X-linked complicated spastic paraplegia type 1

X-linked corneal dermoid

X-linked creatine transporter deficiency

X-linked distal hereditary motor neuropathy

X-linked distal spinal muscular atrophy type 3

X-linked dominant chondrodysplasia punctata

X-linked dyserythropoietic anemia with abnormal platelets and neutropenia

X-linked dystonia-parkinsonism

X-linked Ehlers-Danlos syndrome

X-linked Emery-Dreifuss muscular dystrophy

X-linked endothelial corneal dystrophy

X-linked epilepsy-learning disabilities-behavior disorders syndrome

X-linked erythropoietic protoporphyria

X-linked hyper-IgM syndrome

X-linked hypohidrotic ectodermal dysplasia

X-linked hypophosphatemia

X-linked ichthyosis syndrome

X-linked immunoneurologic disorder

X-linked intellectual disability, Cilliers type

X-linked intellectual disability, Najm type

X-linked intellectual disability, Snyder type

X-linked intellectual disability, Van Esch type

X-linked intellectual disability-ataxia-apraxia syndrome

X-linked intellectual disability-cerebellar hypoplasia syndrome

X-linked intellectual disability-epilepsy syndrome

X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome

X-linked intellectual disability-hypotonia-movement disorder syndrome

X-linked lymphoproliferative disease

X-linked mandibulofacial dysostosis

X-linked mendelian susceptibility to mycobacterial diseases

X-linked myopathy with excessive autophagy

X-linked non progressive cerebellar ataxia

X-linked non-syndromic intellectual disability

X-linked progressive cerebellar ataxia

X-linked pure spastic paraplegia

X-linked recessive ocular albinism

X-linked reticulate pigmentary disorder

X-linked retinoschisis

X-linked severe congenital neutropenia

X-linked severe syndromic thoracic aortic aneurysm and dissection

X-linked sideroblastic anemia

X-linked sideroblastic anemia and spinocerebellar ataxia

X-linked spastic paraplegia type 16

X-linked spastic paraplegia type 34

X-linked spinocerebellar ataxia type 3

X-linked spinocerebellar ataxia type 4

X-linked thrombocytopenia with normal platelets

Xeroderma pigmentosum

Xeroderma pigmentosum variant

Xeroderma pigmentosum-Cockayne syndrome complex

XMEN

Xp21 deletion syndrome

Yellow nail syndrome

Yolk sac tumor

Yolk sac tumor of central nervous system

Young adult-onset distal hereditary motor neuropathy

Young syndrome

Young-onset Parkinson disease

Zellweger syndrome

Zika virus disease

Zimmermann-Laband syndrome

Zollinger-Ellison syndrome

10q22.3q23.3 microdeletion syndrome

10q22.3q23.3 microduplication syndrome

12p12.1 microdeletion syndrome

12q14 microdeletion syndrome

14q11.2 microdeletion syndrome

14q11.2 microduplication syndrome

14q22q23 microdeletion syndrome

14q32 duplication syndrome

15q11.2 microdeletion syndrome

15q11q13 microduplication syndrome

15q13.3 microdeletion syndrome

15q24 microdeletion syndrome

16p11.2p12.2 microdeletion syndrome

16p13.11 microdeletion syndrome

16p13.11 microduplication syndrome

16p13.3 microduplication syndrome

16q24.1 microdeletion syndrome

17p11.2 microduplication syndrome

17p13.3 microduplication syndrome

17q11 microdeletion syndrome

17q12 microdeletion syndrome

17q12 microduplication syndrome

17q21.31 microdeletion syndrome

17q21.31 microduplication syndrome

19p13.12 microdeletion syndrome

19p13.13 microdeletion syndrome

1p31p32 microdeletion syndrome

1p36 deletion syndrome

1q21.1 microdeletion syndrome

1q21.1 microduplication syndrome

1q41q42 microdeletion syndrome

2-hydroxyglutaric aciduria

2-methylbutyryl-CoA dehydrogenase deficiency

20q13.33 microdeletion syndrome

21q deletion syndrome

21q22.11q22.12 microdeletion syndrome

22q11.2 deletion syndrome

22q11.2 duplication syndrome

2p15p16.1 microdeletion syndrome

2q23.1 microdeletion syndrome

2q32q33 microdeletion syndrome

2q37 microdeletion syndrome

3-hydroxy-3-methylglutaric aciduria

3-methylcrotonyl-CoA carboxylase deficiency

3-methylglutaconic aciduria

3-methylglutaconic aciduria type 1

3-methylglutaconic aciduria type 3

3-methylglutaconic aciduria type 4

3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome

3C syndrome

3p25.3 microdeletion syndrome

3q13 microdeletion syndrome

3q26 microduplication syndrome

3q29 microdeletion syndrome

3q29 microduplication syndrome

45,X/46,XY mixed gonadal dysgenesis

46,XX difference of sex development

46,XX difference of sex development-anorectal anomalies syndrome

47,XYY syndrome

48,XXXY syndrome

48,XXYY syndrome

48,XYYY syndrome

49,XXXXY syndrome

4H leukodystrophy

4p16.3 microduplication syndrome

4q21 microdeletion syndrome

4q25 proximal deletion syndrome

5-oxoprolinase deficiency

5p13 microduplication syndrome

5q14.3 microdeletion syndrome

5q35 microduplication syndrome

6-phosphogluconate dehydrogenase deficiency

6-pyruvoyl-tetrahydropterin synthase deficiency

6q16 microdeletion syndrome

6q25.2q25.3 microdeletion syndrome

7q11.23 microduplication syndrome

7q31 microdeletion syndrome

8p inverted duplication/deletion syndrome

8p23.1 duplication syndrome

8p23.1 microdeletion syndrome

8q24.3 microdeletion syndrome

9p13 microdeletion syndrome

9q33.3q34.11 microdeletion syndrome

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