At a Glance
Bartter disease type 5;
2-aminoadipic 2-oxoadipic aciduria;
3MC syndrome 1
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Bartter disease type 5
2-aminoadipic 2-oxoadipic aciduria
3MC syndrome 1
3MC syndrome 2
3MC syndrome 3
ALG1-congenital disorder of glycosylation
ALG9 congenital disorder of glycosylation
Acrocallosal syndrome
Action myoclonus-renal failure syndrome
Adenine phosphoribosyltransferase deficiency
Age related macular degeneration 1
Age related macular degeneration 13
Age related macular degeneration 14
Age related macular degeneration 15
Age related macular degeneration 4
Age related macular degeneration 9
Alagille syndrome due to a JAG1 point mutation
Alagille syndrome due to a NOTCH2 point mutation
Aldosterone-producing adenoma with seizures and neurological abnormalities
Alstrom syndrome
Alzheimer disease 2
Amyloidogenic transthyretin amyloidosis
Amyotrophic lateral sclerosis, susceptibility to, 24
Andersen Tawil syndrome
Apparent mineralocorticoid excess
Arterial calcification, generalized, of infancy, 1
Arthrogryposis, renal dysfunction, and cholestasis 1
Arthrogryposis, renal dysfunction, and cholestasis 2
Asphyxiating thoracic dystrophy 2
Asphyxiating thoracic dystrophy 3
Asphyxiating thoracic dystrophy 4
Asphyxiating thoracic dystrophy 5
Atrial fibrillation, familial, 9
Atypical hemolytic-uremic syndrome with B factor anomaly
Atypical hemolytic-uremic syndrome with C3 anomaly
Atypical hemolytic-uremic syndrome with I factor anomaly
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
Atypical hemolytic-uremic syndrome with thrombomodulin anomaly
Autism, susceptibility to, X-linked 4
Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
Autosomal dominant Alport syndrome
Autosomal dominant distal renal tubular acidosis
Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
Autosomal dominant hypocalcemia 1
Autosomal dominant hypophosphatemic rickets
Autosomal dominant nonsyndromic hearing loss 17
Autosomal dominant nonsyndromic hearing loss 23
Autosomal dominant osteopetrosis 1
Autosomal dominant pseudohypoaldosteronism type 1
Autosomal recessive Alport syndrome
Autosomal recessive ataxia due to ubiquinone deficiency
Autosomal recessive distal renal tubular acidosis
Autosomal recessive hypophosphatemic bone disease
Autosomal recessive nonsyndromic hearing loss 4
Autosomal recessive nonsyndromic hearing loss 66
Autosomal recessive polycystic kidney disease
Autosomal recessive proximal renal tubular acidosis
Autosomal recessive pseudohypoaldosteronism type 1
BLOOD GROUP--DIEGO SYSTEM
BLOOD GROUP--FROESE
BLOOD GROUP--SWANN SYSTEM
BLOOD GROUP--WALDNER TYPE
BLOOD GROUP--WRIGHT ANTIGEN
BNAR syndrome
Bardet-Biedl syndrome 1
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 2
Bardet-Biedl syndrome 20
Bardet-Biedl syndrome 3
Bardet-Biedl syndrome 4
Bardet-Biedl syndrome 5
Bardet-Biedl syndrome 7
Bardet-Biedl syndrome 8
Bardet-Biedl syndrome 9
Bardet-biedl syndrome 21
Bartter disease type 1
Bartter disease type 2
Bartter disease type 3
Bartter disease type 4A
Bartter disease type 4B
Basal laminar drusen
Benign familial hematuria
Benign scapuloperoneal muscular dystrophy with cardiomyopathy
Blood group, Chido/Rodgers system
Bone mineral density quantitative trait locus 1
Brain small vessel disease 1 with or without ocular anomalies
Branchiooculofacial syndrome
Branchiootic syndrome 1
Branchiootic syndrome 3
Branchiootorenal syndrome 1
Branchiootorenal syndrome 2
Bronchiectasis with or without elevated sweat chloride 1
Bronchiectasis with or without elevated sweat chloride 2
Bronchiectasis with or without elevated sweat chloride 3
C1 inhibitor deficiency
C1Q deficiency
CFHR5 deficiency
CHARGE association
COACH syndrome
Carcinoma of colon
Carpal tunnel syndrome
Charcot-Marie-Tooth disease axonal type 2Q
Charcot-Marie-Tooth disease dominant intermediate E
Charcot-Marie-Tooth disease type 2B1
Chronic infantile neurological, cutaneous and articular syndrome
Chuvash polycythemia
Cobalamin C disease
Coenzyme Q10 deficiency, primary, 1
Coenzyme Q10 deficiency, primary, 3
Complement component 2 deficiency
Complement component 3 deficiency
Complement component 4a deficiency
Complement component 4b deficiency
Complement component 5 deficiency
Complement component 6 deficiency
Complement component 7 deficiency
Complement component 9 deficiency
Complement component C1s deficiency
Complement factor b deficiency
Cone-rod dystrophy 16
Congenital afibrinogenemia
Congenital anomalies of kidney and urinary tract 1
Congenital anomalies of kidney and urinary tract 2
Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay
Congenital anomaly of kidney and urinary tract
Congenital central hypoventilation
Congenital glucose-galactose malabsorption
Congenital muscular dystrophy due to LMNA mutation
Congenital myasthenic syndrome 16
Congenital prothrombin deficiency
Corticosterone 18-monooxygenase deficiency
Corticosterone methyloxidase type 2 deficiency
Cranioectodermal dysplasia 1
Cranioectodermal dysplasia 2
Cranioectodermal dysplasia 3
Cranioectodermal dysplasia 4
Cromer blood group system
Cryohydrocytosis
Cyclical neutropenia
Cystinuria
Dalmatian hypouricemia
Deafness, congenital heart defects, and posterior embryotoxon
Deficiency of steroid 11-beta-monooxygenase
Dent disease type 1
Dent disease type 2
Diabetes insipidus, nephrogenic, X-linked
Diabetes insipidus, nephrogenic, autosomal
Diaphanospondylodysostosis
Dilated cardiomyopathy 1A
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
Drash syndrome
Duane-radial ray syndrome
EAST syndrome
Eculizumab, poor response to
Ehlers-Danlos syndrome due to tenascin-X deficiency
Ehlers-Danlos syndrome, periodontal type 1
Ehlers-Danlos syndrome, periodontal type 2
Emery-Dreifuss muscular dystrophy 3, autosomal recessive
Encephalocraniocutaneous lipomatosis
Epidermolysis bullosa simplex 1C, localized
Epilepsy, childhood absence, susceptibility to, 6
Epilepsy, idiopathic generalized, susceptibility to, 8
Essential hypertension
Exudative vitreoretinopathy 4
Fabry disease
Factor H deficiency
Factor I deficiency
Familial Atypical Hemolytic-Uremic Syndrome
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Familial X-linked hypophosphatemic vitamin D refractory rickets
Familial amyloid nephropathy with urticaria AND deafness
Familial cold autoinflammatory syndrome 1
Familial cold autoinflammatory syndrome 3
Familial dysfibrinogenemia
Familial hyperaldosteronism type III
Familial hyperkalemic periodic paralysis
Familial hypoalphalipoproteinemia
Familial hypocalciuric hypercalcemia 1
Familial hypokalemia-hypomagnesemia
Familial idiopathic hypercalciuria
Familial juvenile gout
Familial juvenile hyperuricemic nephropathy type 1
Familial juvenile hyperuricemic nephropathy type 2
Familial medullary thyroid carcinoma
Familial partial lipodystrophy, Dunnigan type
Familial steroid-resistant nephrotic syndrome with sensorineural deafness
Familial type 3 hyperlipoproteinemia
Familial visceral amyloidosis, Ostertag type
Fanconi renotubular syndrome 2
Fanconi renotubular syndrome 3
Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young
Fanconi-Bickel syndrome
Finnish congenital nephrotic syndrome
Focal segmental glomerulosclerosis
Focal segmental glomerulosclerosis 1
Focal segmental glomerulosclerosis 2
Focal segmental glomerulosclerosis 3, susceptibility to
Focal segmental glomerulosclerosis 4, susceptibility to
Focal segmental glomerulosclerosis 5
Focal segmental glomerulosclerosis 6
Focal segmental glomerulosclerosis 7
Focal segmental glomerulosclerosis 8
Focal segmental glomerulosclerosis 9
Fraser syndrome 1
Fraser syndrome 2
Fraser syndrome 3
Frasier syndrome
Galloway-Mowat syndrome 1
Gillessen-Kaesbach-Nishimura syndrome
Glomerulopathy with fibronectin deposits 2
Glucocorticoid-remediable aldosteronism
Greig cephalopolysyndactyly syndrome
Hajdu-Cheney syndrome
Hamartoma of hypothalamus
Hartsfield-Bixler-Demyer syndrome
Hearing loss, X-linked 6
Hearing loss, autosomal dominant 34, with or without inflammation
Heart defect - tongue hamartoma - polysyndactyly syndrome
Heart-hand syndrome, Slovenian type
Hemolytic uremic syndrome, atypical, susceptibility to, 1
Hereditary angioedema type 1
Hereditary cancer-predisposing syndrome
Hereditary spastic paraplegia 23
Hereditary spherocytosis type 4
Hereditary xanthinuria type 1
Hirschsprung disease, susceptibility to, 1
Hirschsprung disease, susceptibility to, 3
Hutchinson-Gilford syndrome
Hydrolethalus syndrome 2
Hyperaldosteronism, familial, type IV
Hypercalcemia, infantile, 1
Hypercalcemia, infantile, 2
Hyperparathyroidism 1
Hyperparathyroidism 2 with jaw tumors
Hyperthyroxinemia, dystransthyretinemic
Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome
Hyperuricemic nephropathy, familial juvenile type 4
Hypogonadotropic hypogonadism 2 with or without anosmia
Hypogonadotropic hypogonadism 5 with or without anosmia
Hypokalemic periodic paralysis, type 1
Hypokalemic periodic paralysis, type 2
Hypomagnesemia, seizures, and intellectual disability 1
Hypoparathyroidism, deafness, renal disease syndrome
Hypophosphatemic nephrolithiasis/osteoporosis 1
Hypophosphatemic nephrolithiasis/osteoporosis 2
Hypophosphatemic rickets, X-linked recessive
Hypophosphatemic rickets, autosomal recessive, 1
Hypophosphatemic rickets, autosomal recessive, 2
Hypopigmentation-punctate palmoplantar keratoderma syndrome
Hypoproteinemia, hypercatabolic
Hypouricemia, renal, 2
Imerslund-Grasbeck syndrome
Immunodeficiency due to MASP-2 deficiency
Immunodeficiency due to ficolin3 deficiency
Immunodeficiency, common variable, 7
Immunoglobulin-mediated membranoproliferative glomerulonephritis
Infantile nephronophthisis
Intellectual disability-severe speech delay-mild dysmorphism syndrome
Intestinal hypomagnesemia 1
Intracerebral hemorrhage
Ischemic stroke
Isolated focal cortical dysplasia type II
Isolated neonatal sclerosing cholangitis
Jackson-Weiss syndrome
Joubert syndrome 1
Joubert syndrome 10
Joubert syndrome 13
Joubert syndrome 14
Joubert syndrome 15
Joubert syndrome 16
Joubert syndrome 17
Joubert syndrome 18
Joubert syndrome 2
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 3
Joubert syndrome 31
Joubert syndrome 5
Joubert syndrome 6
Joubert syndrome 7
Joubert syndrome 8
Joubert syndrome 9
Joubert syndrome with renal defect
Junctional epidermolysis bullosa with pyloric atresia
Junctional epidermolysis bullosa, non-Herlitz type
Juvenile nephropathic cystinosis
KNOPS BLOOD GROUP SYSTEM
Karyomegalic interstitial nephritis
Keratitis fugax hereditaria
LAMB2-related infantile-onset nephrotic syndrome
Leber congenital amaurosis 10
Lesch-Nyhan syndrome
Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
Lethal tight skin contracture syndrome
Leukocyte adhesion deficiency
Leukocyte adhesion deficiency 1
Liddle syndrome
Liddle syndrome 2
Liddle syndrome 3
Lipoprotein glomerulopathy
Long QT syndrome 13
Lowe syndrome
Lymphangiomyomatosis
MORM syndrome
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
Malaria, susceptibility to
Malignant hyperthermia, susceptibility to, 5
Mandibuloacral dysplasia
Mandibuloacral dysplasia with type B lipodystrophy
Mannose-binding lectin deficiency
Maturity-onset diabetes of the young type 1
McKusick-Kaufman syndrome
Meacham syndrome
Meckel syndrome 13
Meckel syndrome, type 1
Meckel syndrome, type 10
Meckel syndrome, type 11
Meckel syndrome, type 2
Meckel syndrome, type 3
Meckel syndrome, type 4
Meckel syndrome, type 5
Meckel syndrome, type 6
Meckel syndrome, type 8
Meckel syndrome, type 9
Meretoja syndrome
Mesothelioma, malignant
Microcephaly 20, primary, autosomal recessive
Microphthalmia with brain and digit anomalies
Microvascular complications of diabetes, susceptibility to, 1
Microvascular complications of diabetes, susceptibility to, 3
Mullerian aplasia and hyperandrogenism
Multiple endocrine neoplasia, type 2a
Multiple endocrine neoplasia, type 2b
Multiple epiphyseal dysplasia, Al-Gazali type
Multiple sclerosis, susceptibility to, 5
Multiple system atrophy 1, susceptibility to
NPHP3-related Meckel-like syndrome
Nail-patella syndrome
Neonatal diabetes mellitus with congenital hypothyroidism
Neonatal severe primary hyperparathyroidism
Nephrogenic syndrome of inappropriate antidiuresis
Nephronophthisis
Nephronophthisis 1
Nephronophthisis 11
Nephronophthisis 12
Nephronophthisis 13
Nephronophthisis 14
Nephronophthisis 15
Nephronophthisis 16
Nephronophthisis 18
Nephronophthisis 19
Nephronophthisis 3
Nephronophthisis 4
Nephronophthisis 7
Nephronophthisis 9
Nephronophthisis-like nephropathy 1
Nephropathic cystinosis
Nephrotic syndrome - deafness - pretibial epidermolysis bullosa syndrome
Nephrotic syndrome 14
Nephrotic syndrome, type 10
Nephrotic syndrome, type 11
Nephrotic syndrome, type 12
Nephrotic syndrome, type 13
Nephrotic syndrome, type 2
Nephrotic syndrome, type 3
Nephrotic syndrome, type 4
Nephrotic syndrome, type 8
Nephrotic syndrome, type 9
Neuropathy, hereditary sensory and autonomic, type 2A
Neutropenia, severe congenital, 1, autosomal dominant
Nonpapillary renal cell carcinoma
Obesity
Ocular cystinosis
Oculootoradial syndrome
Oculotrichoanal syndrome
Orofacial cleft 11
Orofacial-digital syndrome IV
Orofaciodigital syndrome 16
Orofaciodigital syndrome I
Orofaciodigital syndrome type 14
Orofaciodigital syndrome type 6
Osteoglophonic dysplasia
Osteopetrosis with renal tubular acidosis
Osteoporosis with pseudoglioma
Otofaciocervical syndrome 1
Ovarian dysgenesis 6
PMM2-congenital disorder of glycosylation
Pallister-Hall syndrome
Paramyotonia congenita of Von Eulenburg
Parathyroid carcinoma
Partial hypoxanthine-guanine phosphoribosyltransferase deficiency
Periventricular nodular heterotopia 7
Pfeiffer syndrome
Pheochromocytoma
Pidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome
Pierson syndrome
Plasma fibronectin deficiency
Plasminogen deficiency, type I
Polycystic kidney disease 2
Polycystic kidney disease 3 with or without polycystic liver disease
Polycystic kidney disease 6 with or without polycystic liver disease
Polycystic kidney disease, adult type
Polycystic liver disease 4 with or without kidney cysts
Polydactyly, postaxial, type A1
Polysyndactyly 4
Postmenopausal osteoporosis
Potassium-aggravated myotonia
Pregnancy loss, recurrent, susceptibility to, 2
Primary CD59 deficiency
Primary hyperoxaluria type 3
Primary hyperoxaluria, type I
Primary hyperoxaluria, type II
Primary hypomagnesemia
Properdin deficiency, X-linked
Protein-losing enteropathy
Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis
Pseudohyperaldosteronism type 2
Pseudohypoaldosteronism type 2B
Pseudohypoaldosteronism type 2C
Pseudohypoaldosteronism type 2D
Pseudohypoaldosteronism type 2E
RAPH BLOOD GROUP SYSTEM
RHYNS syndrome
Recurrent Neisseria infections due to factor D deficiency
Renal coloboma syndrome
Renal cysts and diabetes syndrome
Renal dysplasia, cystic, susceptibility to
Renal glycosuria
Renal hypodysplasia
Renal hypodysplasia/aplasia 1
Renal hypodysplasia/aplasia 2
Renal hypomagnesemia 2
Renal hypomagnesemia 4
Renal hypomagnesemia 5 with ocular involvement
Renal hypomagnesemia 6
Renal tubular acidosis with progressive nerve deafness
Renal tubular acidosis, distal, 4, with hemolytic anemia
Renal tubular dysgenesis
Renal-hepatic-pancreatic dysplasia 1
Renal-hepatic-pancreatic dysplasia 2
Retinal arterial tortuosity
Retinitis pigmentosa 23
Retinitis pigmentosa 51
Retinitis pigmentosa 55
Retinitis pigmentosa 71
Retinitis pigmentosa 74
Retinitis pigmentosa 80
Retinitis pigmentosa 81
Rubinstein-Taybi syndrome due to CREBBP mutations
SERKAL syndrome
Saldino-Mainzer syndrome
Salla disease
Sarcotubular myopathy
Scalp-ear-nipple syndrome
Schimke immuno-osseous dysplasia
Schizencephaly
Sea-blue histiocyte syndrome
Senior-Loken syndrome 1
Senior-Loken syndrome 4
Senior-Loken syndrome 5
Senior-Loken syndrome 6
Senior-Loken syndrome 7
Senior-Loken syndrome 8
Short QT syndrome type 3
Short-rib thoracic dysplasia 10 with or without polydactyly
Short-rib thoracic dysplasia 13 with or without polydactyly
Short-rib thoracic dysplasia 14 with polydactyly
Short-rib thoracic dysplasia 18 with polydactyly
Short-rib thoracic dysplasia 6 with or without polydactyly
Short-rib thoracic dysplasia 7 with or without polydactyly
Sialic acid storage disease, severe infantile type
Simpson-Golabi-Behmel syndrome type 1
Simpson-Golabi-Behmel syndrome type 2
Sinoatrial node dysfunction and deafness
Smith-Lemli-Opitz syndrome
Southeast Asian ovalocytosis
Spinocerebellar ataxia type 10
Spondylometaphyseal dysplasia - Sutcliffe type
Systemic lupus erythematosus, susceptibility to, 6
Systemic lupus erythematosus, susceptibility to, 9
TNF receptor-associated periodic fever syndrome (TRAPS)
Tetralogy of Fallot
Thrombomodulin-related bleeding disorder
Thrombophilia due to thrombin defect
Thyroid cancer, nonmedullary, 2
Thyrotoxic periodic paralysis, susceptibility to, 1
Townes-Brocks syndrome 1
Trigonocephaly 1
Trigonocephaly 2
Tuberous sclerosis 1
Tuberous sclerosis 2
Tumoral calcinosis, hyperphosphatemic, familial, 2
Type 2 diabetes mellitus
Type I complement component 8 deficiency
Type II complement component 8 deficiency
Tyrosinemia type I
Upshaw-Schulman syndrome
Van Buchem disease type 2
Ventriculomegaly-cystic kidney disease
Vesicoureteral reflux 2
Vesicoureteral reflux 3
Vesicoureteral reflux 8
Vitamin D-dependent rickets type II with alopecia
Von Hippel-Lindau syndrome
Wilms tumor 1
Wilson disease
Worth disease
X-linked Alport syndrome
X-linked recessive nephrolithiasis with renal failure
ACE (17q23.3);
ACTN4 (19q13.2);
ADAMTS13 (9q34.2);
ADCY10 (1q24.2);
AGT (1q42.2)
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Total conditions: 526
Condition/Phenotype
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Methodology
Total methods: 0
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