Alphabetic List of Disease Names:

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 0-9

• Abetalipoproteinemia
• Abnormal thyroid hormone metabolism
• Aceruloplasminemia/Hypoceruloplasminemia
• Achondroplasia
• Achondroplasia-SCID syndrome
• Acro-renal-ocular syndrome
• Acrocallosal syndrome
• Acrocapitofemoral dysplasia
• Acromesomelic dysplasia, Demirhan type
• Acromesomelic dysplasia, Grebe type
• Acromesomelic dysplasia, Hunter-Thompson type
• ACTH-independent macronodular adrenal hyperplasia 1
• ACTH-independent macronodular adrenal hyperplasia 2
• Acute febrile neutrophilic dermatosis
• Acute myeloid leukemia
• ADA2 deficiency
• Adrenal adenoma
• Adult hypophosphatasia
• Adult type lactose intolerance
• Afibrinogenemia
• Agammaglobulinemia, X-linked
• Age-related macula degeneration 01
• Aicardi-Goutieres syndrome
• Aicardi-Goutieres syndrome 1
• Aicardi-Goutieres syndrome 2
• Aicardi-Goutieres syndrome 3
• Aicardi-Goutieres syndrome 4
• Aicardi-Goutieres syndrome 5
• Aicardi-Goutieres syndrome 6
• Aicardi-Goutieres syndrome 7
• AIDS progression
• Al-Gazali-Bakalinova syndrome
• Alagille syndrome 2
• Albright hereditary osteodystrophy
• Allan-Herndon-Dudley syndrome
• Alloimmune thrombocytopenia
• Alport Syndrome
• Alström syndrome
• Alzheimer disease
• Alzheimer disease, mitochondrial type
• Aminoaciduria
• Amyloidosis, cerebroarterial
• Amyloidosis, cerebroarterial, Britisch type
• Amyloidosis, cerebroarterial, Danish type
• Amyloidosis, cerebroarterial, Dutch type
• Amyloidosis, cerebroarterial, Icelandic type
• Angiofibroma
• Aniridia-Wilms-tumor syndrome
• Antenatal Bartter syndrome type 1
• Antenatal Bartter syndrome type 2
• Antley-Bixler syndrome 1
• Antley-Bixler syndrome 2
• Apert syndrome
• Aplasia of lacrimal and salivary glands
• Aplastic anemia
• Apolipoprotein A-2 amyloidosis
• Apolipoprotein A1 deficiency
• Apolipoprotein A2 deficiency
• Apolipoprotein deficiency
• Apolipoprotein F deficiency
• Apolipoprotein H deficiency
• Apparent mineralocorticoid excess
• Argininosuccinic aciduria
• Arteriosclerosis
• Arthrogryposis, renal dysfunction, and cholestasis 1
• Arthrogryposis, renal dysfunction, and cholestasis 2
• Arts syndrome
• Ataxia, mitochondrial type
• Ataxia-pancytopenia syndrome
• Atopy
• Atrial septal defect 7 with or without AV conduction defects
• Attenuated cholesterol lowering by statins
• ATTR amyloidosis
• Atypical Rett syndrome
• Autism
• Autoimmune disease
• Autoimmune lymphoproliferative syndrome 5
• Autoimmune lymphoproliferative syndrome type 2
• Autoimmune polyendocrinopathy syndrome 1
• Autoimmune polyendocrinopathy syndrome 2
• Autoimmune polyendocrinopathy syndrome 3
• Autoimmune polyendocrinopathy syndrome 4
• Autoimmune polyendokrinopathy
• Autoinflammation with arthritis and dyskeratosis
• Autoinflammation, antibody deficiency, and immune dysregulation syndrome
• Autoinflammatory disease
• Autoinflammatory periodic fever, immunodeficiency, and thrombocytopenia
• Autosomal dominant cerebellar ataxia, deafness and narcolepsy
• Autosomal dominant hypercholesterolemia 1
• Autosomal dominant hypercholesterolemia 2
• Autosomal dominant hypercholesterolemia 3
• Autosomal dominant hypophosphatemic rickets
• Autosomal dominant idiopathic Fanconi syndrome
• Autosomal dominant obesity
• Autosomal dominant osteopetrosis 1
• Autosomal dominant osteopetrosis 2
• Autosomal dominant polycystic kidney disease
• Autosomal dominant protein C deficiency
• Autosomal dominant protein S deficiency
• Autosomal dominant Robinow syndrome 1
• Autosomal dominant tubulointerstitial kidney disease (ADTKD)
• Autosomal recesive deafness 12
• Autosomal recessive deafness 23
• Autosomal recessive deafness 4 with enlarged vestibular aqueduct
• Autosomal recessive hypercholesterolemia
• Autosomal recessive hypophosphatemic rickets type 1
• Autosomal recessive hypophosphatemic rickets type 2
• Autosomal recessive osteopetrosis 4
• Autosomal recessive osteopetrosis 7
• Autosomal recessive polycystic kidney and hepatic disease 1
• Autosomal recessive protein C deficiency
• Autosomal recessive protein S deficiency
• Autosomal recessive Robinow syndrome
• Autosomal recessive spastic paraplegia type 44
• Axenfeld-Rieger Anomaly

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 0-9

• Baller-gerold_syndrome
• Bamforth-Lazarus syndrome
• Bardet-Biedl syndrome
• Bardet-Biedl syndrome 01
• Bardet-Biedl syndrome 02
• Bardet-Biedl syndrome 03
• Bardet-Biedl syndrome 04
• Bardet-Biedl syndrome 05
• Bardet-Biedl syndrome 06
• Bardet-Biedl syndrome 07
• Bardet-Biedl syndrome 08
• Bardet-Biedl syndrome 09
• Bardet-Biedl syndrome 10
• Bardet-Biedl syndrome 11
• Bardet-Biedl syndrome 12
• Bardet-Biedl syndrome 13
• Bardet-Biedl syndrome 14
• Bardet-Biedl syndrome 15
• Bardet-Biedl syndrome 16
• Bardet-Biedl syndrome 17
• Bardet-Biedl syndrome 18
• Bardet-Biedl syndrome 19
• Bardet-Biedl syndrome 20
• Bartter syndrome
• Benign hyperproreninemia
• Bernard-Soulier syndrome
• Betalipoprotein deficiency
• Blau syndrome
• Bleeding disorder platelet-type 9
• BMI effecting trait 14
• BNAR syndrome
• Body mass index quantitative trait
• Bohring-Opitz syndrome
• Bone dysplasia
• Brachydactyly
• Brachydactyly type A1
• Brachydactyly type A1, A
• Brachydactyly type A1, B
• Brachydactyly type A1, C
• Brachydactyly type A1, D
• Brachydactyly type A2
• Brachydactyly type A3
• Brachydactyly type A4
• Brachydactyly type B1
• Brachydactyly type B2
• Brachydactyly type C
• Brachydactyly type D
• Brachydactyly type E1
• Brachydactyly type E2
• Brachydactyly types B and E combined
• Brachydactyly-syndactyly
• Brain malformations with urinary tract defects
• Brain pseudoatrophy
• Brain small vessel disease with hemorrhage
• Branchio-oculo-facial syndrome
• Branchiootic syndrome
• Branchiootic syndrome 1
• Branchiootic syndrome 3
• Branchiootorenal dysplasia
• Branchiootorenal dysplasia 1
• Branchiootorenal dysplasia 2
• Bronchiectasis with or without elevated sweat chloride
• Bronchiectasis with or without elevated sweat chloride 1
• Bronchiectasis with or without elevated sweat chloride 2
• Bronchiectasis with or without elevated sweat chloride 3
• Brunner syndrome
• Budd-Chiari syndrome

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 0-9

• C3 glomerulonephritis
• C3 glomerulopathy
• Calciphylaxis
• Capillary infantile hemangioma
• Capillary infantile hemangioma
• Capillary infantile hemangioma with germline mutation
• Carcinoid tumor of lung
• CARD14 associated psoriasis
• Caroli disease
• Central diabetes insipidus
• Central giant cell lesion
• Central hypothyroidism
• Central hypothyroidism and testicular enlargement
• CFHR5 Nephropathy
• Charcot-Marie-Tooth disease
• Charcot–Marie–Tooth disease, mitochondrial type
• CHARGE syndrome
• Chediak-Higashi syndrome
• Cherubism
• Childhood hypophosphatasia
• Chondrodysplasia of Blomstrand type
• Chondrodysplasia, Grebe type
• Choreoathetosis with hypothyroidism and neonatal respiratory distress
• Chronic atypical neutrophilic dermatosis-lipodystrophy-elevated temperature syndrome
• Chronic recurrent multifocal osteomyelitis
• Chylomicron retention disease
• Chylomicronemia
• Ciliopathy
• CINCA syndrome
• Citrullinemia
• Citrullinemia type 1
• Citrullinemia type 2
• Classic Bartter syndrome
• Classical homocysteinuria
• COACH syndrome
• Coenzyme Q10 deficiency
• Coenzyme Q10 deficiency 1
• Coenzyme Q10 deficiency 2
• Coenzyme Q10 deficiency 3
• Coenzyme Q10 deficiency 4
• Coenzyme Q10 deficiency 5
• Coenzyme Q10 deficiency 6
• Colorectal cancer, mitochondrial type
• Colorectal_cancer_susceptibility_to
• Combined deficiency of vitamin K-dependent clotting factors type 1
• Combined deficiency of vitamin K-dependent clotting factors type 2
• Combined familial hyperlipidemia with adipose tissue dysfunction
• Combined familial hyperlipidemia with dysfunctional LDL clearance
• Combined familial hyperlipidemia with dysfunctional VLDL metabolism
• Combined familial hyperlipidemia with VLDL overproduction
• Combined lipase deficiency
• Combined pituitary hormone deficiency
• Combined renal tubular acidosis 3 with osteopetrosis 3
• Complement C2 deficiency
• Complement C3 deficiency
• Complement C5 deficiency
• Complement C6 deficiency
• Complement C7 deficiency
• Complement C8 deficiency
• Complement C8 deficiency type 1
• Complement C8 deficiency type 2
• Complement C9 deficiency
• Complement component C1q deficiency
• Complement component C1r/C1s deficiency
• Complement component C1s deficiency
• Complement component C4 deficiency
• Complement component C4A deficiency
• Complement component C4B deficiency
• Complement factor D deficiency
• Complement factor I deficiency
• Congenital abnormalities of the kidney and urinary tract
• Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
• Congenital analbuminemia
• Congenital anomalies of kidney and urinary tract 1
• Congenital anomalies of kidney and urinary tract 2
• Congenital cadiac malformations
• Congenital contractural arachnodactyly
• Congenital disorder of glycosylation
• Congenital disorder of glycosylation 1A
• Congenital disorder of glycosylation 1L
• Congenital disorder of glycosylation 1N
• Congenital dyserythropoietic anaemia and chronic recurrent multifocal osteomyelitis
• Congenital generalized lipodystrophy type 2
• Congenital hypogonadotropic hypogonadism with anosmia 1
• Congenital hypogonadotropic hypogonadism without anosmia 4
• Congenital hypogonadotropic hypogonadism without anosmia 5
• Congenital insensitivity to pain with anhidrosis
• Congenital isolated ACTH deficiency
• Congenital nephrotic syndrome type 01 (Finnish type)
• Congenital nephrotic syndrome type 02
• Congenital nephrotic syndrome type 03
• Congenital nephrotic syndrome type 04
• Congenital nephrotic syndrome type 05 (Pierson syndrome)
• Congenital nephrotic syndrome type 06
• Congenital nephrotic syndrome type 07
• Congenital nephrotic syndrome type 08
• Congenital nephrotic syndrome type 09
• Congenital nephrotic syndrome type 10
• Congenital nephrotic syndrome type 11
• Congenital nephrotic syndrome type 12
• Congenital nephrotic syndrome type 13
• Congenital nephrotic syndrome type 14
• Congenital nephrotic syndrome type 15
• Congenital nephrotic syndrome type 16
• Congenital nephrotic syndrome type 17
• Congenital nephrotic syndrome type 18
• Congenital nephrotic syndrome type 19
• Congenital nephrotic syndrome type 20
• Congenital nephrotic syndrome type 21
• Congenital nephrotic syndrome type 22
• Congenital nephrotic syndrome type 23
• Congenital nephrotic syndrome type 24
• Congenital nongoitrous hypothyroidism
• Congenital nongoitrous hypothyroidism 1
• Congenital nongoitrous hypothyroidism 2
• Congenital nongoitrous hypothyroidism 3
• Congenital nongoitrous hypothyroidism 4
• Congenital nongoitrous hypothyroidism 5
• Congenital nongoitrous hypothyroidism 6
• Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
• Conn syndrome
• Conotruncal heart malformations
• Coumarin resistance
• CR1 deficiency
• Cranioectodermal dysplasia
• Cranioectodermal dysplasia 1
• Cranioectodermal dysplasia 2
• Cranioectodermal dysplasia 3
• Cranioectodermal dysplasia 4
• Crigler-Najjar syndrome 1
• Crigler-Najjar syndrome 2
• Crohn disease-associated growth failure
• Crouzon syndrome
• Cryopyrin-associated periodic syndrome
• Cystic kidney disease
• Cystinosis
• Cystinuria
• Cytochrome c oxydase deficiency, mitochondrial type

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 0-9

• Dense deposit disease
• Dent disease
• Denys-Drash syndrome
• Developmental delay, epilepsy, and neonatal diabetes
• Diabetes insipidus and mellitus with optic atrophy and deafness
• Diabetes mellitus
• Diabetes mellitus with insulin resistance and acanthosis nigricans
• Diabetic microangiopathy 4
• Diabetic nephropathy
• Diabetic retinopathy
• Dicarboxylic aminoaciduria
• Dihydroxyadenin urolithiasis
• Dilated cardiomyopathy 1A
• Disorder of the aldosterone system
• Disorder of the thyroid hormon system
• Disordered steroidogenesis due to POR deficiency
• Disorders of cobalamin metabolism
• Disorders of iron metabolism
• Disorders of mRNA editing
• Disorders of sex development
• Disorders of the glucocorticoid hormone system
• Disorders of the growth control system
• Disorders of the parathyroid hormone system
• Disorders of the renal phosphate transporters
• Disorders of tubular solute transport
• Disorders of urate metabolism
• Disposition to bacteriosis
• Disposition to infections
• Disposition to Mycosis
• Disposition to parasitosis
• Distal renal tubular acidosis (autosomal dominant)
• Distal renal tubular acidosis (autosomal recessive)
• Distal renal tubular acidosis with deafness (autosomal recessive)
• Disturbances in phosphate metabolism
• Disturbances of body fat distribution
• Disturbances of cytochrome p450 system
• Disturbances of glucose metabolism
• Disturbances of vitamin K metabolism
• Disturbed regulators of lipid and carbohydrate metabolism
• Donnai-Barrow syndrome
• Dubin-Johnson syndrome
• Dysalbuminemic hyperthyroxinemia
• Dyschromatosis symmetrica hereditaria
• Dysfibrinogenemia
• Dyslipidemia
• Dysplasminogenemia

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 0-9

• Early pathway complement deficiencies
• Early-onset macula degeneration
• Early-onset obesity
• EAST syndrome
• Ectodermal dysplasia and immunodeficiency
• Ectodermal dysplasia and immunodeficiency 1
• Ectodermal dysplasia and immunodeficiency 2
• Ectodermal dysplasia, anhidrotic, lymphedema and immunodeficiency
• Ehlers-Danlos syndrome due to tenascin-X deficiency
• Eiken syndrome
• Emberger syndrome
• Endocytotic disturbances of proximal tubular function
• Enlarged vestibular aqueduct
• Eosinophil peroxidase deficiency
• Epidermolysis bullosa
• Epigenetic dyslipidemia
• Epilepsy syndrome
• Epstein syndrome
• Erythrocyte lactate transporter defect

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 0-9

• Fabry disease
• Factor XII deficiency
• Factor XIII A subunit deficiency
• Factor XIII B subunit deficiency
• Failure of tooth eruption
• Familial acne inversa 1
• Familial and sporadic pituitary adenomas
• Familial candidiasis
• Familial candidiasis 1
• Familial candidiasis 2
• Familial candidiasis 3
• Familial candidiasis 4
• Familial candidiasis 5
• Familial candidiasis 6
• Familial candidiasis 7
• Familial candidiasis 8
• Familial candidiasis 9
• Familial Chilblain lupus
• Familial chilblain lupus 1
• Familial Chilblain lupus 2
• Familial cold autoinflammatory syndrome 1
• Familial cold autoinflammatory syndrome 2
• Familial cold autoinflammatory syndrome 3
• Familial cold autoinflammatory syndrome 4
• Familial cold autoinflammatory syndromes
• Familial combined Hyperlipemia
• Familial erythrocytosis 2
• Familial expansile osteolysis
• Familial follicular thyroid carcinoma
• Familial gestational hyperthyroidism
• Familial hemophagocytic lymphohistiocytosis
• Familial hemophagocytic lymphohistiocytosis 1
• Familial hemophagocytic lymphohistiocytosis 2
• Familial hemophagocytic lymphohistiocytosis 3
• Familial hemophagocytic lymphohistiocytosis 4
• Familial hemophagocytic lymphohistiocytosis 5
• Familial hypocalciuric hypercalcemia type 1
• Familial hypocalciuric hypercalcemia type 2
• Familial hypocalciuric hypercalcemia type 3
• Familial Isolated Hyperparathyroidism
• Familial Mediterranean fever
• Familial medullary thyroid cancer
• Familial multilocular cystic disease of the jaws
• Familial normophosphatemic tumoral calcinosis
• Familial partial lipodystrophy type 2
• Familial partial lipodystrophy type 3
• Familial partial lipodystrophy type 4
• Familial partial lipodystrophy type 5
• Familial spinal neurofibromatosis
• Familial transient neonatal hyperbilirubinemia
• Familial tumoral calcinosis
• Familial vesicoureteral reflux 2
• Familial vesicoureteral reflux 3
• Familial vesicoureteral reflux 8
• Fanconi renotubular syndrome
• Fanconi renotubular syndrome 1
• Fanconi renotubular syndrome 2
• Fanconi renotubular syndrome 3
• Fanconi-Bickel syndrome
• Fanconi-type hypophosphatemic rickets
• Fasting plasma glucose trait loci
• Fechtner syndrome
• FGF23-induced hypophosphatemic rickets
• Fibrodysplasia ossificans progressiva
• Fibronectin glomerulopathy
• Fibular aplasia-complex brachydactyly syndrome
• Finnish type Amyloidosis
• Fish-eye disease
• Focal, segmental glomerulosclerosis (FSGS)
• Follicular thyroid carcinoma
• Food intolerance
• Fraser syndrome
• Frasier syndrome
• Fructose intolerance
• Fructose malabsorption
• Fructose-1,6-bisphosphatase deficiency
• Fructosuria
• Fsgs10

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 0-9

• Galactosemia
• Galloway-Mowat syndrome 8
• Gastric cancer
• Gastric cancer risk
• Generalized arterial calcification of infancy
• Generalized arterial calcification of infancy 1
• Generalized arterial calcification of infancy 2
• Generalized lipodystrophy
• Generalized lipodystrophy type 1
• Generalized thyrotropin-releasing hormone resistance
• Genetic adenohypophyseal disorders
• Genetic adrenal disease
• Genetic alterations of drug tolerance
• Genetic disorders of pituitary gland
• Genetic disorders of proximal tubular function
• Genetic hyperbilirubinemia
• Genetic neurohypophyseal disorders
• Genetic susceptibility to aspergillosis
• Gestational diabetes mellitus
• Gilbert syndrome
• Gillessen-Kaesbach-Nishimura syndrome
• Gitelman syndrome
• Glomerular basement membrane disorders
• Glomerulocystic kidney disease with hyperuricemia and isosthenuria
• Glomerulonephritis
• Glomerulosclerosis
• Glomerulotubular nephropathy
• Glucocorticoid resistance
• Glucocorticoid triggered hypertension
• Glucose-Galactose Malabsorption
• Glycogen storage disease 1
• Glycogen storage disease 1A
• Glycogen storage disease 1B
• Glycogen storage disease 1C
• Glycolipidosis
• Glycoprotein 1a deficiency
• Goldberg-Shprintzen syndrome
• Goodpasture syndrome
• Gout PRPS-related
• Gout susceptibility 1
• Graft-versus-host disease protection
• Graves disease
• Griscelli syndrome type 2
• Growth hormone deficiency
• Growth hormone hypersensitivity
• Growth hormone insensitivity
• Growth hormone insensitivity with immunodeficiency
• Growth hormone secretagogue resistance
• Growth retardation with developmental delay and facial dysmorphism

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 0-9

• H syndrome
• HADH deficiency
• Hajdu-Cheney syndrome
• HANAC syndrome
• Hartnup disorder
• Hemochromatosis
• Hemochromatosis 1
• Hemochromatosis 2a
• Hemochromatosis 2b
• Hemochromatosis 3
• Hemochromatosis 4
• Hemochromatosis 5
• Hemolytic-Uremic Syndrome
• Hennekam lymphangiectasia-lymphedema syndrome 1
• Hennekam lymphangiectasia-lymphedema syndrome 2
• Hennekam lymphangiectasia-lymphedema syndrome 3
• Hennekam syndrome
• Hepatic CPT-deficiency type 1A
• Hepatitis B susceptibility
• Hepatitis C response to therapy
• Hepatocellular carcinoma
• Hepatorenal tyrosinemia
• Hereditary amyloidosis
• Hereditary Angioedema
• Hereditary Angioedema 1
• Hereditary Angioedema 2
• Hereditary Angioedema 3
• Hereditary arrhythmia
• Hereditary arterial and articular multiple calcification syndrome
• Hereditary benign chorea
• Hereditary bleeding disorders
• Hereditary bone disease
• Hereditary brain tumors
• Hereditary broncho-pulmonary disease
• Hereditary cardiac disease
• Hereditary cardiomyopathy
• Hereditary complement disorders
• Hereditary deafness
• Hereditary deafness 97
• Hereditary dermatological disorders
• Hereditary diabetes insipidus
• Hereditary diseases of the hematopoetic system and coagulopathies
• Hereditary disorders protein metabolism
• Hereditary distal motor neuron neuropathy type 5A
• Hereditary dsorders of the pituitary gland
• Hereditary endocrinological diseases
• Hereditary FSGS type 1
• Hereditary FSGS type 2
• Hereditary FSGS type 3
• Hereditary FSGS type 4
• Hereditary FSGS type 5
• Hereditary FSGS type 6
• Hereditary FSGS type 7
• Hereditary FSGS type 8
• Hereditary FSGS type 9
• Hereditary glaucoma
• Hereditary glomerular disease
• Hereditary immunological disorders
• Hereditary joint disease
• Hereditary kidney diseases
• Hereditary leiomyomatosis and renal cell cancer
• Hereditary lipid disorders
• Hereditary liver disease
• Hereditary lymphedema
• Hereditary lymphedema type 1a
• Hereditary lymphedema type 1c
• Hereditary lymphedema type 1d
• Hereditary lymphedema with distichiasis
• Hereditary lymphedema with distichiasis, diabetes, and renal involvement
• Hereditary malformations
• Hereditary malign blood disorders
• Hereditary metabolic diseases
• Hereditary metabolic kidney disease
• Hereditary muscle diseases
• Hereditary musculoskeletal diseases
• Hereditary myokymia type 1
• Hereditary neurological disorders
• Hereditary ocular disease and visual impairment
• Hereditary otorhinolaryngological disorders
• Hereditary pancreatic disease
• Hereditary papillary renal cell carcinoma
• Hereditary papillary renal cell carcinoma 1
• Hereditary pediatric Behçet-like disease
• Hereditary pulmonary embolism
• Hereditary renal amyloidosis
• Hereditary renal tumors
• Hereditary Rickets
• Hereditary Salt-wasting tubulopathies
• Hereditary sensory and autonomic neuropathy type 2A
• Hereditary sensory neuropathy type 1E
• Hereditary susceptibility to diabetes
• Hereditary tumors
• Hereditary vascular disease
• Hermansky-Pudlak syndrome 2
• Histamine Intolerance
• HIV resistance
• HIV-1 viremia susceptibility
• HIV1 susceptibility
• Hiv1_infection_resistance_to
• Homocystinuria-megaloblastic anemia cblE
• Homocystinuria-megaloblastic anemia cblG
• Humoral hypercalcemia of malignancy
• Hydrolethalus 2
• Hyper-IgD syndrome
• Hyper-IgM syndrome
• Hyper-IgM syndrome 1
• Hyper-IgM syndrome 2
• Hyper-IgM syndrome 3
• Hyper-IgM syndrome 4
• Hyper-IgM syndrome 5
• Hyperaldosteronism
• Hyperaldosteronism type 1
• Hyperaldosteronism type 2
• Hyperaldosteronism type 3
• Hyperaldosteronism type 4
• Hyperalphalipoproteinemia 1
• Hyperalphalipoproteinemia 2
• Hypercalciuric hypocalcemia 1
• Hypercalciuric hypocalcemia 2
• Hypercatabolic hypoproteinemia
• Hypercholesterolemia
• Hyperferritinemia-cataract syndrome
• Hyperfunctioning thyroid adenoma
• Hyperglycinuria
• Hyperhomocysteinemic thrombosis
• Hyperinsulinemic hypoglycemia
• Hyperinsulinemic hypoglycemia 1
• Hyperinsulinemic hypoglycemia 2
• Hyperinsulinemic hypoglycemia 3
• Hyperinsulinemic hypoglycemia 4
• Hyperinsulinemic hypoglycemia 5
• Hyperinsulinemic hypoglycemia 6
• Hyperinsulinemic hypoglycemia 7
• Hyperlipemia
• Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
• Hyperoxaluria
• Hyperoxaluria type 1
• Hyperoxaluria type 2
• Hyperoxaluria type 3
• Hyperparathyroidism
• Hyperphosphatemic familial tumoral calcinosis
• Hypertension
• Hypertension and brachydactyly syndrome
• Hyperthyroidism
• Hypertriglyceridemia
• Hyperuricemia
• Hyperuricemic nephropathy
• Hyperuricemic nephropathy, familial juvenile 1
• Hyperuricemic nephropathy, familial juvenile 2
• Hyperzincemia and hypercalprotectinemia
• Hypoaldosteronism
• Hypoalphalipoproteinemia
• Hypobetalipoproteinemia
• Hypogonadotropic hypogonadism 6 with or without anosmia
• Hypoinsulinemic hypoglycemia
• Hypokalemic periodic paralysis 1
• Hypomagnesemia
• Hypomagnesemia with hypercalciuria and nephrocalcinosis
• Hypomagnesemia with hypercalciuria and nephrocalcinosis with ocular involvement
• Hypomagnesemia with normocalciuria
• Hypomethylation syndrome
• Hypomyelinating Leukodystrophy 2
• Hypoparathyroidism
• Hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome
• Hypoparathyroidism-retardation-dysmorphism syndrome
• Hypophosphatasia
• Hypophosphatemic bone and kindney disease
• Hypophosphatemic rickets with hypercalciuria
• Hypophosphatemic rickets with hyperparathyroidism
• Hypoplasminogenemia
• Hypoplasminogenemia
• Hypoplastic left heart syndrome 2
• Hypothyroidism
• Hypouricemia

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 0-9

• Idiopathic basal ganglia calcification 1
• IgA nephropathy
• IgA nephropathy type 1
• IgA nephropathy type 2
• IgA nephropathy type 3
• Imerslund-Grasbeck syndrome
• Iminoglycinuria
• Immunodeficiency 20
• Immunodeficiency 21
• Immunodeficiency 31A
• Immunodeficiency 31B
• Immunodeficiency 31C
• Immunodeficiency 33
• Immunodeficiency 38
• Immunodeficiency 41
• Immunodeficiency 51
• Immunodeficiency 68
• Immunodeficiency 69
• Immunodeficiency 74, COVID19-related
• Immunodeficiency-centromeric instability-facial anomalies syndrome
• Immunoglobulin disorders
• Inborn skeletal malformations
• Inclusion body myopathy 2
• Incontinentia pigmenti
• Infantile Bartter syndrome with deafness type 4
• Infantile hypercalcemia
• Infantile hypophosphatasia
• Infantile sialic acid storage disorder
• Infantile striatonigral degeneration, mitochondrial type
• Infantile-onset periodic fever-panniculitis-dermatosis syndrome
• Inflammatory bowel disease
• Inflammatory bowel disease 13
• Inflammatory bowel disease 25
• Inflammatory bowel disease 28
• Inflammatory_bowel_disease_14
• Inflammatory_bowel_disease_1_crohn_disease
• Inheritable platelet disorders
• Inherited congenital spastic tetraplegia
• Inherited disorders of calcium balance
• Inherited human diseases of heterotopic bone formation
• Inherited leanness
• Insulin resistance
• Insulin-like growth factor 1 deficiency
• Insulin-like growth factor 1 resistance
• Insulin-like growth factor 1 transport protein deficiency
• Intellectual disability-severe speech delay-mild dysmorphism syndrome
• Interferonopathy
• Interleukin 10 deficiency
• Interleukin 10 receptor deficiency
• Interleukin 36 receptor antagonist deficiency
• Interleukin-1 receptor antagonist deficiency
• Interstitial kidney disease
• Interstitial lung disease with nephrotic syndrome and epidermolysis bullosa
• Intestinal hypomagnesemia with secondary hypocalcemia
• Invasive pneumococcal disease
• Invasive pneumococcal disease 1
• Invasive pneumococcal disease 2
• Invasive pneumococcal disease 3
• IRAK4 deficiency
• Isolated dominant hypomagnesemia
• Isolated focal cortical dysplasia type 2
• Isolated growth hormone deficiency type 1A
• Isolated growth hormone deficiency type 1B
• Isolated growth hormone deficiency type 2
• Isolated growth hormone deficiency type 3
• Ivemark syndrome
• IVIC syndrome

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 0-9

• Joubert syndrome
• Joubert syndrome 01
• Joubert syndrome 02
• Joubert syndrome 03
• Joubert syndrome 04
• Joubert syndrome 05
• Joubert syndrome 06
• Joubert syndrome 07
• Joubert syndrome 08
• Joubert syndrome 09
• Joubert syndrome 10
• Joubert syndrome 11
• Joubert syndrome 12
• Joubert syndrome 13
• Joubert syndrome 14
• Joubert syndrome 15
• Joubert syndrome 16
• Joubert syndrome 17
• Joubert syndrome 18
• Joubert syndrome 19
• Joubert syndrome 20
• Joubert syndrome 21
• Joubert syndrome 22
• Joubert syndrome 23
• Joubert syndrome 24
• Joubert syndrome 25
• Joubert syndrome 26
• Joubert syndrome 27
• Joubert syndrome 28
• Joubert syndrome 29
• Joubert syndrome 30
• Joubert syndrome 31
• Joubert syndrome 32
• Joubert syndrome 33
• Joubert syndrome 34
• Joubert syndrome 35
• Juvenile myelomonocytic leukemia
• Juvenile Paget disease

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 0-9

• Kabuki syndrome
• Kabuki syndrome 1
• Kabuki syndrome 2
• Karyomegalic interstitial nephritis
• Kearns-Sayre syndrome, mitochondrial type
• Kelley-Seegmiller syndrome
• Kenny-Caffey syndrome
• Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome
• Kidney disease appearing as endocrinological disorders
• Knobloch syndrome 1
• Kowarski syndrome

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 0-9

• L-ferritin deficiency
• Lacrimoauriculodentodigital syndrome
• Lactase deficiency
• Langer mesomelic dysplasia
• Laron syndrome
• Late-onset obesity
• Leber congenital amaurosis
• Leber congenital amaurosis 01
• Leber congenital amaurosis 02
• Leber congenital amaurosis 03
• Leber congenital amaurosis 04
• Leber congenital amaurosis 05
• Leber congenital amaurosis 06
• Leber congenital amaurosis 07
• Leber congenital amaurosis 08
• Leber congenital amaurosis 09
• Leber congenital amaurosis 10
• Leber congenital amaurosis 11
• Leber congenital amaurosis 12
• Leber congenital amaurosis 13
• Leber congenital amaurosis 14
• Leber congenital amaurosis 15
• Leber congenital amaurosis 16
• Leber congenital amaurosis 17
• Leber congenital amaurosis 18
• Leber hereditary optic neuropathy
• Left-right axis malformations
• Legionnaire_disease_susceptibility_to
• Legius syndrome
• Leiomyomatosis with Alport syndrome, Smooth muscle tumors and Alport syndrome
• Leprechaunism
• Leprosy_susceptibility_to
• Leprosy_susceptibility_to
• Leprosy_susceptibility_to_5
• Leri-Weill dyschondrosteosis
• Lesch-Nyhan syndrome
• Leukoencephalopathy with ataxia
• Liddle syndrome
• Ligneous conjunctivitis
• Lipodystrophy
• Lipoma
• Lipoprotein glomerulopathy
• Loeys-Dietz syndrome
• Loeys-Dietz syndrome 1
• Loeys-Dietz syndrome 2
• Long QT syndrome
• Long QT syndrome 01
• Long QT syndrome 02
• Long QT syndrome 13
• Low density lipoprotein cholesterol level quantitative trait locus
• Lowe disease
• Lp(a) hyperlipoproteinemia
• Lupus erythematosus nephritis
• Lymphangioleiomyomatosis_somatic
• Lymphangiomyomatosis
• Lymphoproliferative syndrome
• Lymphoproliferative syndrome 1
• Lysinuric protein intolerance
• Lysosomal acid lipase deficiency
• Lysosomal storage disease

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 0-9

• Macroglobulinemia, Waldenstrom
• Macular degeneration
• Majeed syndrome
• Malouf syndrome
• Manitoba oculotrichoanal syndrome
• Mannose-binding protein deficiency
• Mast cell activation syndrome
• McCune-Albright syndrom
• Measles infection susceptibility
• Meckel syndrome
• Meckel syndrome 02
• Meckel syndrome 03
• Meckel syndrome 05
• Meckel syndrome 06
• Meckel syndrome 07
• Meckel syndrome 08
• Meckel syndrome 09
• Meckel syndrome 10
• Meckel syndrome 11
• Meckel syndrome 13
• Mediterranean macrothrombocytopenia
• Medullary cystic disease complex
• Medullary cystic kidney disease
• Medullary cystic kidney disease 1
• Medullary cystic kidney disease 2
• MELAS syndrome
• Melioidosis_susceptibility_to
• Membranoproliferative glomerulonephritis (MPGN)
• Membranous nephropathy
• Meningococcal infection susceptibility
• Mental retardation, truncal obesity, retinal dystrophy and micropenis
• MERRF syndrome
• Mesangioproliferative glomerulonephritis
• Metabolic bone disease
• Metabolic disturbances of proximal tubular function
• Metaphyseal chondrodysplasia of Murk Jansen type
• Methionine adenosyltransferase deficiency
• Methylmalonic aciduria
• Methylmalonic aciduria and homocystinuria cblC
• Methylmalonic aciduria and homocystinuria cblD
• Methylmalonic aciduria and homocystinuria cblF
• Methylmalonic aciduria and homocystinuria cblJ
• Methylmalonic aciduria cblA
• Methylmalonic aciduria cblB
• Methylmalonic aciduria type mut
• Mevalonate kinase-associated inflammatory diseases
• Mevalonic aciduria
• Microcephaly-lymphedema-chorioretinopathy syndrome
• Migraine
• MIRAGE syndrome
• Mitchell-Riley syndrome
• Mitochondrial cardiomyopathy
• Mitochondrial cataract
• Mitochondrial complex I deficiency, mitochondrial type
• Mitochondrial complex V deficiency, mitochondrial type
• Mitochondrial diabetes
• Mitochondrial encephalomyopathy
• Mitochondrial focal, segmental glomerulosclerosis (FSGS)
• Mitochondrial hypomagnesemia, hypertension, and hypercholesterolemia
• Mitochondrial Leigh syndrome
• Mitochondrial myoglobinuria
• Modifiers of clinical glaucoma presentation
• MODY diabetes
• MODY1 diabetes
• MODY10 diabetes
• MODY11 diabetes
• MODY12 diabetes
• MODY13 diabetes
• MODY14 diabetes
• MODY2 diabetes
• MODY3 diabetes
• MODY4 diabetes
• MODY5 diabetes
• MODY6 diabetes
• MODY7 diabetes
• MODY8 diabetes
• MODY9 diabetes
• Monocarboxylate transporter 1 deficiency
• Monogenic hypertension
• Monosacchariduria
• Mowat-Wilson syndrome
• Muckle-Wells syndrome
• Muenke syndrome
• Multiple endocrine neoplasia 1
• Multiple self-healing palmoplantar carcinoma
• Multiple synostoses syndrome
• Multiple synostoses syndrome 1
• Multiple synostoses syndrome 2
• Multiple synostoses syndrome 3
• Multiple_sclerosis_disease_progression_modifier_of
• Mycobacterium_tuberculosis_susceptibility_to
• Myelodysplastic syndrome
• Myelofibrosis
• MYH9 related disorders
• Myoclonus-nephropathy syndrome
• Müllerian aplasia and hyperandrogenism

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 0-9

• Nail-patella syndrome
• NARP syndrome
• Nemaline myopathy 5
• Neonatal diabetes mellitus
• Neonatal diabetes mellitus with congenital hypothyroidism
• Neonatal inflammatory skin and bowel disease type 1
• Nephritic syndrome
• Nephrocalcinosis
• Nephrogenic diabetes insipidus
• Nephrolithiasis diarrhea syndrome
• Nephrolithiasis/osteoporosis, hypophosphatemic, 1
• Nephrolithiasis/osteoporosis, hypophosphatemic, 2
• Nephronophthisis
• Nephronophthisis 01
• Nephronophthisis 02
• Nephronophthisis 03
• Nephronophthisis 04
• Nephronophthisis 05
• Nephronophthisis 06
• Nephronophthisis 07
• Nephronophthisis 08
• Nephronophthisis 09
• Nephronophthisis 10
• Nephronophthisis 11
• Nephronophthisis 12
• Nephronophthisis 13
• Nephronophthisis 14
• Nephronophthisis 15
• Nephronophthisis 16
• Nephronophthisis 17
• Nephronophthisis 18
• Nephronophthisis 19
• Nephronophthisis 20
• Nephronophthisis-like nephropathy 1
• Nephropathy with pretibial epidermolysis bullosa and deafness
• Nephrotic syndrome
• Neurodegeneration with brain iron accumulation 3
• Neurofibromatosis
• Neurofibromatosis 1
• Neurofibromatosis-Noonan syndrome
• Neutral lipid storage disease
• Neutral lipid storage disease with ichtiosis
• Neutral lipid storage disease with myopathy
• NOD2-associated disease
• Non-autoimmune hyperthyroidism
• Non-Hodgkin lymphoma
• Non-medullary thyroid cancer
• Non-medullary thyroid cancer 2
• Non-medullary thyroid cancer 3
• Non-medullary thyroid cancer 4
• Non-medullary thyroid cancer 4
• Non-medullary thyroid cancer 5
• Nonaka myopathy
• Noninsulin-dependent diabetes mellitus 1
• Nonpapillary renal cell carcinoma
• Noonan syndrome 6
• Noonan syndrome-like disorder and juvenile myelomonocytic leukemia
• Norum disease

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 0-9

• Obesity
• Obesity, adrenal insufficiency, and red hair due to POMC deficiency
• Odontohypophosphatasia
• Open angle glaucoma 1
• Open angle glaucoma 1A
• Open angle glaucoma 1B
• Open angle glaucoma 1C
• Open angle glaucoma 1D
• Open angle glaucoma 1E
• Open angle glaucoma 1F
• Open angle glaucoma 1G
• Open angle glaucoma 1H
• Open angle glaucoma 1I
• Open angle glaucoma 1J
• Open angle glaucoma 1K
• Open angle glaucoma 1L
• Open angle glaucoma 1M
• Open angle glaucoma 1N
• Open angle glaucoma 1O
• Open angle glaucoma 1P
• Open angle glaucoma 3
• Open angle glaucoma 3A
• Open angle glaucoma 3B
• Open angle glaucoma 3C
• Open angle glaucoma 3D
• Ornithine aminotransferase deficiency
• Ornithine carbamoyltransferase deficiency
• Orofacial cleft 11
• Orofaciodigital syndrome
• Orofaciodigital syndrome 01
• Orofaciodigital syndrome 04
• Orofaciodigital syndrome 06
• Orofaciodigital syndrome 16
• Orofaciodigital syndrome 9
• Osteoarthritis susceptibility 5
• Osteofibrous dysplasia
• Osteoglophonic dysplasia
• Osteopathia striata with cranial sclerosis
• Osteopetrosis
• Osteoporosis/renal Osteodystrophy
• Ovalocytosis

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 0-9

• PAI transcription modulator
• Palmoplantar_keratoderma_and_woolly_hair
• Pancreatic agenesis 1
• Pancreatic agenesis 2
• Pancreatic agenesis and congenital heart defects
• Pancreatogenic diabetes
• Papillorenal syndrome
• Parathyroid adenoma
• Parathyroid carcinoma
• Paroxysmal nocturnal hemoglobinuria
• Partial complement component C4 deficiency
• Partial lipodystrophy
• Pendred syndrome
• Periodic fever-infantile enterocolitis-autoinflammatory syndrome
• Periodontal Ehlers-Danlos syndrome
• Permanent neonatal diabetes mellitus
• Pheochromocytoma
• Phosphoribosylpyrophosphate synthetase superactivity
• Piebaldism
• Pituitary hormone deficiency type 1
• Pituitary hormone deficiency type 2
• Pituitary hormone deficiency type 3
• Pituitary hormone deficiency type 4
• Pituitary hormone deficiency type 5
• Pityriasis rubra pilaris
• Plasma triglyceride level quantitative trait locus
• Plasminogen activator inhibitor deficiency
• Polycystic kidney disease 1
• Polycystic kidney disease 2
• Polycystic kidney disease 3
• Polycystic kidney disease 4
• Polycystic kidney disease 5
• Polycystic kidney disease 6
• Polycystic kidney disease with hyperinsulinemic hypoglycemia
• Polycystic liver disease
• Polycystic liver disease 1
• Polycystic liver disease 2
• Polycythemia vera
• Polyglucosan body myopathy type 1
• Poor response to Eculizumab
• Porencephaly
• Porencephaly 1
• Porencephaly 2
• Porokeratosis 3
• PPI-induced Hypomagnesemia
• Preeclampsia
• Preeclampsia 1
• Preeclampsia 2
• Preeclampsia 3
• Preeclampsia 4
• Preeclampsia 5
• Pregnancy exacerbated hypertension
• Primary ciliary dyskinesia 3 with or without situs inversus
• Primary immunodeficiency
• Progressive osseous heteroplasia
• Properdin deficiency, X-linked
• Proteasome-associated autoinflammatory syndrome
• Proteasome-associated autoinflammatory syndrome 1
• Proteasome-associated autoinflammatory syndrome 2
• Proteasome-associated autoinflammatory syndrome 3
• Proteasome-associated autoinflammatory syndrome 4
• Protein Z deficiency
• Proximal renal tubular acidosis
• Proximal symphalangism
• Proximal symphalangism 1A
• Proximal symphalangism 1B
• Pseudo-TORCH syndrome 1
• Pseudo-TORCH syndrome 2
• Pseudo-TORCH-Syndrom
• Pseudohyperaldosteronism
• Pseudohyperparathyreoidism
• Pseudohypoaldosteronism
• Pseudohypoaldosteronism type 2
• Pseudohypoaldosteronism type1
• Pseudohypoparathyroidism
• Pseudohypoparathyroidism type IB
• Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency
• Psoriasis
• Psoriasis 02
• Psoriasis 14
• Psoriasis 15
• Psoriasis susceptibility 1
• Psoriasis susceptibility 10
• Psoriasis susceptibility 11
• Psoriasis susceptibility 12
• Psoriasis susceptibility 13
• Psoriasis susceptibility 3
• Psoriasis susceptibility 4
• Psoriasis susceptibility 5
• Psoriasis susceptibility 6
• Psoriasis susceptibility 7
• Psoriasis susceptibility 8
• Psoriasis susceptibility 9
• Pulmonary alveolar microlithiasis
• Pyoderma gangrenosum, acne, and hidradenitis suppurativa (PASH)
• Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
• Pyrin-associated autoinflammatory disease

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 0-9

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 0-9

• Rabson-Mendenhall syndrome
• Raine syndrome
• Rapadilino_syndrome
• Recurrent hydatidiform mole 1
• Recurrent hydatidiform mole 2
• Reduced response to beta-2-adrenoreceptor agonist
• Renal cysts and diabetes (RCAD)
• Renal dysplasia with hypopituitarism and diabetes
• Renal Glucosuria
• Renal hypodysplasia/aplasia
• Renal hypodysplasia/aplasia 1
• Renal hypodysplasia/aplasia 2
• Renal hypomagnesemia 6
• Renal Hypouricemia
• Renal tubular acidosis
• Renal tubular acidosis with arthrogryposis
• Renal tubular dysgenesis
• Renal-hepatic-pancreatic dysplasia 1
• Renal-hepatic-pancreatic dysplasia 2
• Resistance to trypanosoma brucei
• Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
• Retinitis pigmentosa
• Retinitis pigmentosa 17
• Retinitis pigmentosa 23
• Retinitis pigmentosa and erythrocytic microcytosis
• Rett syndrome
• Rett syndrome variant with preserved speech
• Rothmund-thomson_syndrome_type_2
• Rotor type hyperbilirubinemia

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 0-9

• Salla disease
• Salt-sensitive essential hypertension
• Schimke Immunoosseous dysplasia
• Sea-blue histiocyte disease
• Sebastian syndrome
• Senior-Loken syndrome
• Senior-Loken syndrome 1
• Senior-Loken syndrome 3
• Senior-Loken syndrome 4
• Senior-Loken syndrome 5
• Senior-Loken syndrome 6
• Senior-Loken syndrome 7
• Senior-Loken syndrome 8
• Senior-Loken syndrome 9
• Septic shock
• SERKAL syndrome
• Severe neonatal-onset encephalopathy with microcephaly
• Severe obesity
• Severe obesity and type 2 diabetes
• SH3BP2 deficienc with multilocular cysticy disease of the mandibles
• Short QT syndrome
• Short QT syndrome 1
• Short QT syndrome 2
• Short QT syndrome 3
• Short stature
• Short stature, developmental delay, and congenital heart defects
• Short stature, SHOX-linked
• Short-rib thoracic dysplasia with or without polydactyly
• Short-rib thoracic dysplasia with or without polydactyly 01
• Short-rib thoracic dysplasia with or without polydactyly 02
• Short-rib thoracic dysplasia with or without polydactyly 03
• Short-rib thoracic dysplasia with or without polydactyly 04
• Short-rib thoracic dysplasia with or without polydactyly 05
• Short-rib thoracic dysplasia with or without polydactyly 06
• Short-rib thoracic dysplasia with or without polydactyly 07
• Short-rib thoracic dysplasia with or without polydactyly 08
• Short-rib thoracic dysplasia with or without polydactyly 09
• Short-rib thoracic dysplasia with or without polydactyly 10
• Short-rib thoracic dysplasia with or without polydactyly 11
• Short-rib thoracic dysplasia with or without polydactyly 12
• Short-rib thoracic dysplasia with or without polydactyly 13
• Short-rib thoracic dysplasia with or without polydactyly 14
• Short-rib thoracic dysplasia with or without polydactyly 15
• Short-rib thoracic dysplasia with or without polydactyly 16
• Short-rib thoracic dysplasia with or without polydactyly 17
• Short-rib thoracic dysplasia with or without polydactyly 18
• Short-rib thoracic dysplasia with or without polydactyly 19
• Sialuria
• Simpson-Golabi-Behmel syndrome
• Simpson-Golabi-Behmel syndrome 1
• Simpson-Golabi-Behmel syndrome 2
• Singleton-Merten syndrome
• Singleton-Merten syndrome 1
• Singleton-Merten syndrome 2
• Siponimod intolerance
• Sitosterolemia
• Smith-Kingsmore syndrome
• Smith-Lemli-Opitz syndrome
• Sneddon syndrome
• Somatic erythrocytosis
• Somatic mitochondrial complex III deficiency
• Somatic nephroblastoma
• Sotos syndrome 1
• Spastic paraplegia 17 with amyotrophy of hands and feet
• Specific disturbances of proximal tubular transport
• Spondyloenchondrodysplasia with immune dysregulation
• Spondyloepiphyseal dysplasia tarda
• Stapes ankylosis with broad thumbs and toes
• Statin intolerance
• STING-associated vasculopathy with onset in infancy
• Susceptibility to acute myeloid leukemia
• Susceptibility to allergic rhinitis
• Susceptibility to arteriovenous malformations of the brain
• Susceptibility to asthma
• Susceptibility to autoimmune thyroid disease
• Susceptibility to autoimmune thyroid disease 1
• Susceptibility to autoimmune thyroid disease 2
• Susceptibility to autoimmune thyroid disease 3
• Susceptibility to autoimmune thyroid disease 4
• Susceptibility to autoimmune thyroid disease 5
• Susceptibility to bacteremia 1
• Susceptibility to celiac disease
• Susceptibility to celiac disease 03
• Susceptibility to cystic renal dysplasia
• Susceptibility to glioma
• Susceptibility to herpes-specific encephalopathy 02
• Susceptibility to herpes-specific encephalopathy 06
• Susceptibility to herpes-specific encephalopathy 07
• Susceptibility to Kaposi sarcoma
• Susceptibility to lupus nephritis
• Susceptibility to malaria
• Susceptibility to malignant hyperthermia 5
• Susceptibility to mycobacterial diseases
• Susceptibility to myelodysplastic syndrome
• Susceptibility to nephrolithiasis
• Susceptibility to nocturnal asthma
• Susceptibility to obesity
• Susceptibility to pseudomonas infection
• Susceptibility to rheumatoid arthritis
• Susceptibility to systemic lupus erythematosus
• Susceptibility to systemic lupus erythematosus 03
• Susceptibility to systemic lupus erythematosus 04
• Susceptibility to systemic lupus erythematosus 05
• Susceptibility to systemic lupus erythematosus 06
• Susceptibility to systemic lupus erythematosus 07
• Susceptibility to systemic lupus erythematosus 08
• Susceptibility to systemic lupus erythematosus 09
• Susceptibility to systemic lupus erythematosus 10
• Susceptibility to systemic lupus erythematosus 11
• Susceptibility to systemic lupus erythematosus 12
• Susceptibility to systemic lupus erythematosus 13
• Susceptibility to systemic lupus erythematosus 14
• Susceptibility to systemic lupus erythematosus 15
• Susceptibility to systemic lupus erythematosus 16
• Susceptibility to thyrotoxic periodic paralysis 1
• Susceptibility to type 1 diabetes
• Susceptibility to type 1 diabetes 01
• Susceptibility to type 1 diabetes 02
• Susceptibility to type 1 diabetes 03
• Susceptibility to type 1 diabetes 04
• Susceptibility to type 1 diabetes 05
• Susceptibility to type 1 diabetes 06
• Susceptibility to type 1 diabetes 07
• Susceptibility to type 1 diabetes 08
• Susceptibility to type 1 diabetes 09
• Susceptibility to type 1 diabetes 10
• Susceptibility to type 1 diabetes 11
• Susceptibility to type 1 diabetes 12
• Susceptibility to type 1 diabetes 13
• Susceptibility to type 1 diabetes 15
• Susceptibility to type 1 diabetes 17
• Susceptibility to type 1 diabetes 18
• Susceptibility to type 1 diabetes 19
• Susceptibility to type 1 diabetes 20
• Susceptibility to type 1 diabetes 21
• Susceptibility to type 1 diabetes 22
• Susceptibility to type 1 diabetes 23
• Susceptibility to type 1 diabetes 24
• Susceptibility to vitiligo-associated multiple autoimmune disease 1
• Syndactyly type 5
• Syndromic growth retardation
• Syndromic microphthalmia 6
• Synpolydactyly type 1
• Systemic autoinflammatory disease
• Systemic-onset juvenile idiopathic arthritis
• Systemic_lupus_erythematosus_resistance_to
• Systemic_lupus_erythematosus_susceptibility_to_1
• Systemic_lupus_erythematosus_susceptibility_to_2

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 0-9

• Tangier Disease
• TAR syndrome
• Tarsal-carpal coalition syndrome
• Tatton-Brown-Rahman syndrome
• Terminal pathway complement deficiencies
• Tetralogy of Fallot
• Thanatophoric dysplasia 1
• Thanatophoric dysplasia 2
• Thin basement membrane nephropathy
• Thrombasthenia of Glanzmann and Naegeli
• Thrombocythemia 3
• Thromboembolic diseases
• Thrombophilia due to heparin cofactor 2 deficiency
• Thrombotic microangiopathies
• Thrombotic Thrombocytopenic Purpura
• Thyroid cancer
• Thyroid carcinoma with thyrotoxicosis
• Thyroid dyshormonogenesis
• Thyroid dyshormonogenesis 1
• Thyroid dyshormonogenesis 2a
• Thyroid dyshormonogenesis 3
• Thyroid dyshormonogenesis 4
• Thyroid dyshormonogenesis 5
• Thyroid dyshormonogenesis 6
• Thyroid hormone resistance
• Thyroid hormone resistance, generalized, autosomal dominant
• Thyroid hormone resistance, generalized, autosomal recessive
• Thyroid hormone resistance, selective pituitary
• Thyrotropin-releasing hormone deficiency
• TNF receptor-associated periodic syndrome
• Townes-Brocks branchiootorenal-like syndrome
• Townes-Brocks syndrome
• Townes-Brocks syndrome 1
• Townes-Brocks syndrome 2
• Transient antenatal Bartter syndrome
• Transient infantile hypertriglyceridemia
• Transient neonatal diabetes mellitus 1
• Transient neonatal diabetes mellitus 2
• Transient neonatal diabetes mellitus 3
• Trehalase deficiency
• Trichohepatoenteric syndrome
• Trichohepatoenteric syndrome 1
• Trichohepatoenteric syndrome 2
• Trigonocephaly 2
• Tuberous sclerosis 1
• Tuberous sclerosis 2
• Tuberous sclerosis complex

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 0-9

• Urea cycle disorders
• Uric acid nephropathy
• Urofacial syndrome
• Urolithiasis
• Usher syndrome
• Usher syndrome 1D
• Usher syndrome 1D/F
• Usher syndrome 1F

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 0-9

• Van Maldergem syndrome 2
• Variable immunodeficiency type 7
• Vascular calcification
• Vascular dementia
• Vasculitis due to ADA2 deficiency
• Ventricular septal defect 3
• Ventriculomegaly-cystic kidney disease
• Vesicoureteral reflux
• Vitamin D hydroxylation-deficient rickets type 1A
• Vitamin D hydroxylation-deficient rickets type 1B
• Vitamin D-dependent rickets, type 2A
• Vitamin D-dependent rickets, type 2B
• Von Hippel-Lindau syndrome

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 0-9

• WAGR syndrome
• Watson syndrome
• Williams-Beuren syndrome
• Wilms tumor
• Wilson disease
• Wiskott–Aldrich syndrome
• Wolcott-Rallison syndrome
• Wolfram syndrome
• Wolfram syndrome 1
• Wolfram syndrome 2
• Wolfram_syndrome_mitochondrial_type
• Wolman disease

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 0-9

• X-linked Charcot-Marie-Tooth disease type 5
• X-linked dominant hypophosphatemic rickets
• X-linked familial short stature
• X-linked immunodysregulation, polyendocrinopathy, and enteropathy
• X-linked lymphoproliferative syndrome 1
• X-linked lymphoproliferative syndrome 2
• X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency
• X-linked non-syndromic sensorineural deafness type DFN
• X-linked recessive hypophosphatemic rickets
• X-linked susceptibility to autism 3
• X-linked syndromic mental retardation 13
• X-linked syndromic mental retardation Lubs type

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 0-9

• Y-linked familial short stature
• Yao_syndrome

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 0-9

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 0-9