At a Glance
2-aminoadipic 2-oxoadipic aciduria;
3MC syndrome 1;
3MC syndrome 2
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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
Afibrinogenemia
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 22
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
Bartter disease type 5
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 1
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
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 hypocalciuric hypercalcemia 1
Familial hypokalemia-hypomagnesemia
Familial idiopathic hypercalciuria
Familial idiopathic steroid-resistant nephrotic syndrome
Familial juvenile hyperuricemic nephropathy type 1
Familial juvenile hyperuricemic nephropathy type 2
Familial medullary thyroid carcinoma
Familial partial lipodystrophy, Dunnigan type
Familial renal glucosuria
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
Hyperkalemic periodic paralysis
Hyperparathyroidism 1
Hyperparathyroidism 2 with jaw tumors
Hyperthyroxinemia, dystransthyretinemic
Hyperuricemia, pulmonary hypertension, renal failure, alkalosis syndrome
Hyperuricemic nephropathy, familial juvenile type 4
Hypoalphalipoproteinemia, primary, 1
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 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 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
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 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
Tubulointerstitial kidney disease, autosomal dominant, 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: 525
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Methodology
Total methods: 0
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