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-CDG
ALG9 congenital disorder of glycosylation
Acrocallosal syndrome
Adenine phosphoribosyltransferase deficiency
Afibrinogenemia
Afibrinogenemia, congenital
Age-related macular degeneration 1
Age-related macular degeneration 13
Age-related macular degeneration 14
Age-related macular degeneration 4
Age-related macular degeneration 9
Alagille syndrome 1
Alagille syndrome 2
Alport syndrome 1, X-linked recessive
Alport syndrome 3, autosomal dominant
Alport syndrome, autosomal recessive
Alstrom syndrome
Alzheimer disease 2
Amyloidogenic transthyretin amyloidosis
Amyotrophic lateral sclerosis, susceptibility to, 24
Andersen Tawil syndrome
Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps
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 4
Asphyxiating thoracic dystrophy 5
Atrial fibrillation, familial, 9
Atypical hemolytic-uremic syndrome 1
Atypical hemolytic-uremic syndrome 2
Atypical hemolytic-uremic syndrome 3
Atypical hemolytic-uremic syndrome 4
Atypical hemolytic-uremic syndrome 5
Atypical hemolytic-uremic syndrome 6
Autism, susceptibility to, X-linked 4
Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated
Autosomal dominant distal renal tubular acidosis
Autosomal dominant hypophosphatemic rickets
Autosomal dominant medullary cystic kidney disease with hyperuricemia
Autosomal dominant nonsyndromic deafness 17
Autosomal dominant osteopetrosis 1
Autosomal dominant pseudohypoaldosteronism type 1
Autosomal recessive hypophosphatemic bone disease
Autosomal recessive hypophosphatemic vitamin D refractory rickets
Autosomal recessive polycystic kidney disease
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 21
Bardet-Biedl syndrome 3
Bardet-Biedl syndrome 4
Bardet-Biedl syndrome 5
Bardet-Biedl syndrome 7
Bardet-Biedl syndrome 8
Bardet-Biedl syndrome 9
Bartter disease type 4a
Bartter syndrome type 3
Bartter syndrome, type 1, antenatal
Bartter syndrome, type 2, antenatal
Bartter syndrome, type 4b
Bartter syndrome, type 5, antenatal, transient
Basal laminar drusen
Benign familial hematuria
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
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
C1q deficiency
C4a deficiency
CD59-mediated hemolytic anemia with or without immune-mediated polyneuropathy
CFHR5 deficiency
CHARGE association
Carcinoma of colon
Carpal tunnel syndrome
Charcot-Marie-Tooth disease type 2B1
Charcot-Marie-Tooth disease, axonal, type 2Q
Charcot-Marie-Tooth disease, dominant intermediate E
Chronic infantile neurological, cutaneous and articular syndrome
Cobalamin C disease
Coenzyme Q10 deficiency, primary 1
Coenzyme Q10 deficiency, primary, 3
Coenzyme Q10 deficiency, primary, 4
Coenzyme Q10 deficiency, primary, 6
Cole disease
Common variable immunodeficiency 7
Complement component 2 deficiency
Complement component 3 deficiency, autosomal recessive
Complement component 4, partial deficiency of
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
Complement factor d deficiency
Cone-rod dystrophy 16
Congenital anomalies of kidney and urinary tract
Congenital anomalies of kidney and urinary tract 1, susceptibility to
Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay
Congenital anomalies of kidney and urinary tract type 2
Congenital central hypoventilation
Congenital disorder of glycosylation, type Ia
Congenital glucose-galactose malabsorption
Congenital heart defects, hamartomas of tongue, and polysyndactyly
Congenital muscular dystrophy, LMNA-related
Congenital myasthenic syndrome, acetazolamide-responsive
Corticosterone methyloxidase type 1 deficiency
Corticosterone methyloxidase type 2 deficiency
Cranioectodermal dysplasia 1
Cranioectodermal dysplasia 2
Cranioectodermal dysplasia 3
Cranioectodermal dysplasia 4
Cromer blood group system
Cyclical neutropenia
Cystinuria
Deafness, X-linked 6
Deafness, autosomal dominant 23
Deafness, autosomal dominant 34, with or without inflammation
Deafness, autosomal recessive 4, with enlarged vestibular aqueduct
Deafness, autosomal recessive 66
Deafness, congenital heart defects, and posterior embryotoxon
Deficiency of steroid 11-beta-monooxygenase
Dent disease type 1
Dent disease type 2
Diabetes mellitus, neonatal, with congenital hypothyroidism
Diaphanospondylodysostosis
Dilated cardiomyopathy 1A
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
Drash syndrome
Duane-radial ray syndrome
Dysfibrinogenemia, congenital
Dystransthyretinemic euthyroidal hyperthyroxinemia
EAST syndrome
Eculizumab, poor response to
Ehlers-Danlos syndrome due to tenascin-X deficiency
Ehlers-Danlos syndrome, periodontal type, 2
Ehlers-Danlos syndrome, type 8
Emery-Dreifuss muscular dystrophy 2, autosomal dominant
Emery-Dreifuss muscular dystrophy 3, autosomal recessive
Encephalocraniocutaneous lipomatosis
Epidermolysis bullosa junctionalis with pyloric atresia
Epilepsy, childhood absence 6
Epilepsy, idiopathic generalized 8
Epilepsy, progressive myoclonic 4, with or without renal failure
Erythrocytosis, familial, 2
Essential hypertension
Exudative vitreoretinopathy 4
Fabry disease
Factor H deficiency
Familial Atypical Hemolytic-Uremic Syndrome
Familial Mediterranean fever
Familial X-linked hypophosphatemic vitamin D refractory rickets
Familial amyloid nephropathy with urticaria AND deafness
Familial cold autoinflammatory syndrome 3
Familial cold urticaria
Familial hyperaldosteronism type 3
Familial hyperkalemic periodic paralysis
Familial hypoalphalipoproteinemia
Familial hypokalemia-hypomagnesemia
Familial hypoplastic, glomerulocystic kidney
Familial idiopathic hypercalciuria
Familial juvenile gout
Familial mediterranean fever, autosomal dominant
Familial medullary thyroid carcinoma
Familial partial lipodystrophy 2
Familial renal glucosuria
Familial renal hypouricemia
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 cortical dysplasia type II
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
Glomerulocystic kidney disease with hyperuricemia and isosthenuria
Glomerulopathy with fibronectin deposits 2
Greig cephalopolysyndactyly syndrome
Hajdu-Cheney syndrome
Hamartoma of hypothalamus
Hartsfield syndrome
Heart-hand syndrome, Slovenian type
Hemorrhage, intracerebral, susceptibility to
Hereditary angioedema type 1
Hereditary cancer-predisposing syndrome
Hereditary cryohydrocytosis with normal stomatin
Hereditary nephrotic syndrome
Hereditary sensory and autonomic neuropathy type IIA
Hereditary spastic paraplegia 23
Hereditary xanthinuria type 1
Hirschsprung disease 1
Hirschsprung disease 3
Hutchinson-Gilford syndrome
Hydrolethalus syndrome 2
Hyperaldosteronism, familial, type I
Hyperaldosteronism, familial, type IV
Hypercalcemia, infantile, 1
Hypercalcemia, infantile, 2
Hyperparathyroidism 1
Hyperparathyroidism 2
Hypertension, early-onset, autosomal dominant, with severe exacerbation in pregnancy
Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis
Hyperuricemic nephropathy, familial juvenile, 2
Hyperuricemic nephropathy, familial juvenile, 4
Hypocalcemia, autosomal dominant 1
Hypocalciuric hypercalcemia, familial, type 1
Hypogonadotropic hypogonadism 2 with or without anosmia
Hypogonadotropic hypogonadism 5 with or without anosmia
Hypokalemic periodic paralysis 1
Hypokalemic periodic paralysis, type 2
Hypomagnesemia 1, intestinal
Hypomagnesemia 4, renal
Hypomagnesemia 5, renal, with ocular involvement
Hypomagnesemia 6, renal
Hypomagnesemia, seizures, and mental retardation 1
Hypoparathyroidism-deafness-renal disease syndrome
Hypophosphatemic rickets, X-linked recessive
Hypophosphatemic rickets, autosomal recessive, 2
Hypoproteinemia, hypercatabolic
IVIC syndrome
Idiopathic nephrotic syndrome
Imerslund-Gräsbeck syndrome
Immunodeficiency due to ficolin 3 deficiency
Infantile nephronophthisis
Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital
Interstitial nephritis, karyomegalic
Ischemic stroke
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 4
Joubert syndrome 5
Joubert syndrome 6
Joubert syndrome 7
Joubert syndrome 8
Joubert syndrome 9
Joubert syndrome with hepatic defect
Junctional epidermolysis bullosa, non-Herlitz type
Juvenile nephropathic cystinosis
KNOPS BLOOD GROUP SYSTEM
Keratitis fugax hereditaria
Leber congenital amaurosis 10
Lesch-Nyhan syndrome
Lethal tight skin contracture syndrome
Leukocyte adhesion deficiency
Leukocyte adhesion deficiency 1
Liddle syndrome 1
Liddle syndrome 2
Liddle syndrome 3
Lipoprotein glomerulopathy
Localized epidermolysis bullosa simplex
Long QT syndrome 13
Lowe syndrome
Lymphangiomyomatosis
MASP2 deficiency
MORM syndrome
Macrocephaly with multiple epiphyseal dysplasia and distinctive facies
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
Macular degeneration, age-related, 15
Malignant hyperthermia, susceptibility to, 5
Mandibuloacral dysplasia with type A lipodystrophy
Mandibuloacral dysplasia with type B lipodystrophy
Mannose-binding protein deficiency
Maturity-onset diabetes of the young, type 1
McKusick-Kaufman syndrome
Meacham syndrome
Meckel syndrome 12
Meckel syndrome 13
Meckel syndrome type 1
Meckel syndrome type 6
Meckel syndrome type 7
Meckel syndrome type 8
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 9
Medullary cystic kidney disease 1
Mental retardation with language impairment and with or without autistic features
Meretoja syndrome
Mesothelioma, malignant
Microcephaly 20, primary, autosomal recessive
Microphthalmia with brain and digit anomalies
Microvascular complications of diabetes 1
Microvascular complications of diabetes 3
Mullerian aplasia and hyperandrogenism
Multiple endocrine neoplasia, type 2a
Multiple endocrine neoplasia, type 2b
Multiple sclerosis, susceptibility to, 5
Multiple system atrophy
Nail-patella syndrome
Neonatal severe hyperparathyroidism
Nephrogenic diabetes insipidus, X-linked
Nephrogenic diabetes insipidus, autosomal
Nephrogenic syndrome of inappropriate antidiuresis
Nephrolithiasis/osteoporosis, hypophosphatemic, 1
Nephrolithiasis/osteoporosis, hypophosphatemic, 2
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
Nephropathy with pretibial epidermolysis bullosa and deafness
Nephrotic syndrome type 14
Nephrotic syndrome, type 10
Nephrotic syndrome, type 11
Nephrotic syndrome, type 12
Nephrotic syndrome, type 13
Nephrotic syndrome, type 3
Nephrotic syndrome, type 4
Nephrotic syndrome, type 5, with or without ocular abnormalities
Nephrotic syndrome, type 7
Nephrotic syndrome, type 8
Nephrotic syndrome, type 9
Neutropenia, severe congenital 1, autosomal dominant
Obesity
Ocular cystinosis
Oculotrichoanal syndrome
Orofacial cleft 11
Orofacial-digital syndrome IV
Orofaciodigital syndrome 16
Orofaciodigital syndrome I
Orofaciodigital syndrome type 6
Orofaciodigital syndrome xiv
Osteoglophonic dysplasia
Osteopetrosis with renal tubular acidosis
Osteoporosis with pseudoglioma
Otofaciocervical syndrome 1
Ovalocytosis, southeast Asian
Ovarian dysgenesis 6
Pallister-Hall syndrome
Paramyotonia congenita of von Eulenburg
Parathyroid carcinoma
Partial hypoxanthine-guanine phosphoribosyltransferase deficiency
Periventricular nodular heterotopia 7
Pfeiffer syndrome
Pheochromocytoma
Pierson syndrome
Plasma fibronectin deficiency
Plasminogen deficiency, type I
Polycystic kidney disease 2
Polycystic kidney disease 3
Polycystic kidney disease 6 with or without polycystic liver disease
Polycystic kidney disease, adult type
Polycystic liver disease 4 with or without kidney cysts
Postaxial polydactyly type A1
Postmenopausal osteoporosis
Potassium-aggravated myotonia
Preaxial polydactyly 4
Pregnancy loss, recurrent, susceptibility to, 2
Primary aldosteronism, seizures, and neurologic abnormalities
Primary hyperoxaluria, type I
Primary hyperoxaluria, type II
Primary hyperoxaluria, type III
Primary hypomagnesemia
Properdin deficiency, X-linked
Protein-losing enteropathy (disease)
Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis
Prothrombin deficiency, congenital
Pseudohypoaldosteronism type 2B
Pseudohypoaldosteronism type 2C
Pseudohypoaldosteronism type 2D
Pseudohypoaldosteronism type 2E
RAPH BLOOD GROUP SYSTEM
RHYNS syndrome
Renal cell carcinoma, nonpapillary
Renal coloboma syndrome
Renal dysplasia
Renal dysplasia, cystic, susceptibility to
Renal hypodysplasia
Renal hypodysplasia/aplasia 1
Renal hypodysplasia/aplasia 2
Renal hypomagnesemia 2
Renal hypouricemia 2
Renal tubular acidosis with progressive nerve deafness
Renal tubular acidosis, distal, autosomal recessive
Renal tubular acidosis, distal, with hemolytic anemia
Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation
Renal-hepatic-pancreatic dysplasia 1
Renal-hepatic-pancreatic dysplasia 2
Retinal arteries, tortuosity of
Retinitis pigmentosa 23
Retinitis pigmentosa 51
Retinitis pigmentosa 55
Retinitis pigmentosa 71
Retinitis pigmentosa 74
Retinitis pigmentosa 80
Retinitis pigmentosa 81
Rubinstein-Taybi syndrome 1
SCHIZENCEPHALY
SERKAL syndrome
Saldino-Mainzer syndrome
Salla disease
Sarcotubular myopathy
Scalp-ear-nipple syndrome
Schimke immuno-osseous dysplasia
Sclerosing cholangitis, neonatal
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 3
Short rib polydactyly syndrome 5
Short rib-polydactyly syndrome, Majewski type
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 3 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
Spherocytosis type 4
Spinocerebellar ataxia type 10
Spondylometaphyseal dysplasia - Sutcliffe type
Susceptibility to malaria
Systemic lupus erythematosus 6
Systemic lupus erythematosus 9
TNF receptor-associated periodic fever syndrome (TRAPS)
Tetralogy of Fallot
Thrombophilia due to thrombin defect
Thrombophilia due to thrombomodulin 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 with cystic kidney disease
Vesicoureteral reflux 2
Vesicoureteral reflux 3
Vesicoureteral reflux 8
Vitamin D-dependent rickets, type 2
Von Hippel-Lindau syndrome
Wilms tumor 1
Wilson disease
Worth disease
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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Conditions
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Total conditions: 529
Condition/Phenotype
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Total methods: 0
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