| Diseases |
Alias |
|
| Dent Disease 1 |
|
Dent Disease
|
Dent'S Disease
|
|
Dent Disease 2
|
Dent Disease Type 1
|
|
DENT1
|
Urolithiasis, Hypercalciuric, X-Linked
|
|
Nephrolithiasis 2
|
Nphl2
|
|
Dent Syndrome
|
Dents Disease
|
|
Low-Molecular-Weight Proteinuria With Hypercalciuria And Nephrocalcinosis
|
Renal Fanconi Syndrome With Nephrocalcinosis And Renal Stones
|
|
X-Linked Recessive Hypercalciuric Hypophosphatemic Rickets
|
X-Linked Recessive Nephrolithiasis
|
|
Fanconi Syndrome, Renal, With Nephrocalcinosis And Renal Stones
|
Nephrolithiasis, Hypercalciuric, X-Linked
|
|
Nephrolithiasis-Hypercalciuria X-Linked Recessive
|
Nephrolithiasis, X-Linked Recessive
|
|
Dent Disease, Type 1
|
|
|
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Hypophosphatemic Rickets
|
X-Linked Recessive Hypophosphatemic Rickets
|
|
XLRHR
|
Hypophosphatemic Rickets Disorders
|
|
Rickets Hypophosphatemic
|
Rickets, Hypophosphatemic, X-Linked Recessive
|
|
Familial Hypophosphatemic Rickets
|
|
|
| Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Proteinuria, Low Molecular Weight, With Hypercalciuric Nephrocalcinosis
|
Low Molecular Weight Proteinuria With Hypercalciuric Nephrocalcinosis
|
|
Low Molecular Weight Proteinuria With Hypercalciuria And Nephrocalcinosis
|
LMWPHN
|
|
|
| Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
X-Linked Recessive Nephrolithiasis With Renal Failure
|
XRN
|
|
Nephrolithiasis 1
|
Nphl1
|
|
Nephrolithiasis, Type I
|
Nephrolithiasis, X-Linked Recessive, Type 1
|
|
Urolithiasis, X-Linked Recessive, Type 1
|
Kidney Calculi
|
|
Nephrolithiasis
|
|
|
| Nephrotic Syndrome |
|
Finnish Congenital Nephrotic Syndrome
|
Ns - [Nephrotic Syndrome]
|
|
Nephrosis Syndrome
|
Nephrosis Nos
|
|
Glomerular Lesion Nephrosis
|
|
|
| Nephrolithiasis |
|
Kidney Stones
|
Stone - Kidney/Ureter
|
|
Kidney Calculi
|
|
|
| Nephrocalcinosis |
|
Hypercalcemic Nephropathy
|
|
|
| Rickets |
|
Vitamin D Deficiency
|
Vitamin D
|
|
Active Rickets
|
Hypovitaminosis D
|
|
Nutritional Rickets
|
Vitamin D Deficiency Disease
|
|
Vitamin-D Deficiency Rickets
|
Vitamin D-Dependent Rickets
|
|
Avitaminosis D
|
Infantile Osteomalacia
|
|
Juvenile Osteomalacia
|
|
|
| Aminoaciduria |
|
|
| Renal Tubular Transport Disease |
|
Renal Tubular Transport, Inborn Errors
|
Inborn Renal Tubular Transport Disorder
|
|
|
| Fanconi Syndrome |
|
Infantile Nephropathic Cystinosis
|
Adult Fanconi Syndrome
|
|
Congenital Fanconi Syndrome
|
De Toni-Fanconi Syndrome
|
|
Fanconi-De Toni Syndrome
|
Lignac-Fanconi Syndrome
|
|
Fanconi Renotubular Syndrome
|
Primary Fanconi Renotubular Syndrome
|
|
De Toni-Debre-Fanconi Syndrome
|
Adult Fanconi Anemia
|
|
Detoni Fanconi Syndrome
|
Fanconi-De-Toni Syndrome
|
|
Primary Fanconi Syndrome
|
Detoni-Debre-Fanconi Syndrome
|
|
Primary Fanconi Renal Syndrome
|
Fanconi Anemia
|
|
Cystinosis, Infantile Nephropathic
|
Fanconi-Bickel Syndrome
|
|
Renal Fanconi Syndrome
|
Lowe-Bickel Syndrome
|
|
|
| Bartter Disease |
|
Bartter Syndrome
|
Bartter'S Syndrome
|
|
Aldosteronism With Hyperplasia Of The Adrenal Cortex
|
Hypokalemic Alkalosis With Hypercalciuria
|
|
Potassium Wasting
|
Juxtaglomerular Hyperplasia With Secondary Aldosteronism
|
|
Renal Tubular Normotensive Hypokalemic Alkalosis With Hypercalciuria
|
Salt-Losing Tubular Disorder, Henle'S Loop Type
|
|
Salt-Wasting Tubulopathy, Henle'S Loop Type
|
Bartters Syndrome
|
|
|
| Nephrolithiasis, Calcium Oxalate |
|
Kidney Stones
|
Calculus Of Kidney
|
|
Kidney Calculi
|
Nephrolithiasis
|
|
Renal Calculi
|
Calcium Oxalate Urolithiasis
|
|
CAON
|
Urolithiasis, Calcium Oxalate
|
|
Calcium Oxalate Nephrolithiasis
|
Kidney Stone
|
|
Nephrolith
|
Renal Calculus
|
|
Urinary Stones
|
Renal Stone
|
|
Calculus, Kidney
|
Calculus, Renal
|
|
Renal Lithiasis
|
Renal Stones
|
|
Urolithiasis
|
Renal Calculus Or Stone
|
|
Stone In Kidney
|
Nephritic Calculus
|
|
Multiple Kidney Calculi
|
Multiple Kidney Calculus
|
|
Nephrolithiasis Nos
|
Pelvic Nephrolithiasis
|
|
Pelviolithiasis
|
Pelvis Nephrolithiasis
|
|
|
| Hypercalciuria, Absorptive, 2 |
|
HCA2
|
Hypercalciuria, Absorptive, Susceptibility To
|
|
Hypercalciuria, Absorptive
|
Familial Idiopathic Hypercalciuria
|
|
Hypercalciuria, Familial Idiopathic
|
Hypercalciuria Absorptive 2
|
|
Hypercalciuria Familial Idiopathic
|
Hypercalciuria, Absorptive, Type 2
|
|
Hypercalciuria
|
|
|
| Hypophosphatemia |
|
Vitamin D-Resistant Rickets
|
Hereditary Hypophosphatemic Rickets
|
|
Vdrr
|
Vitamin D Resistant Rickets
|
|
Hypophosphatemic Rickets, X-Linked Dominant
|
Familial Hypophosphatemic Rickets
|
|
|
| Donnai-Barrow Syndrome |
|
Faciooculoacousticorenal Syndrome
|
Dbs/Foar Syndrome
|
|
Foar Syndrome
|
Diaphragmatic Hernia-Exomphalos-Hypertelorism Syndrome
|
|
Facio-Oculo-Acoustico-Renal Syndrome
|
Diaphragmatic Hernia, Exomphalos, Absent Corpus Callosum, Hypertelorism, Myopia, Sensorineural Deafness, And Proteinuria
|
|
Diaphragmatic Hernia-Hypertelorism-Myopia-Deafness Syndrome
|
Holmes-Schepens Syndrome
|
|
Syndrome Of Ocular And Facial Anomalies, Telecanthus And Deafness
|
DBS
|
|
Diaphragmatic Hernia Exomphalos Absent Corpus Callosum Hypertelorism Myopia Sensorineural Deafness And Proteinuria
|
Diaphragmatic Hernia-Exomphalos-Corpus Callosum Agenesis
|
|
Diaphragmatic Hernia-Hypertelorism-Myopia-Hearing Loss Syndrome
|
Syndrome Of Ocular And Facial Anomalies, Telecanthus And Hearing Loss
|
|
Donnai Barrow Syndrome
|
|
|
| Lowe Oculocerebrorenal Syndrome |
|
Lowe Syndrome
|
Oculocerebrorenal Syndrome
|
|
OCRL
|
Oculocerebrorenal Syndrome Of Lowe
|
|
Ocrl1
|
Phosphatidylinositol 4,5-Bisphosphate 5-Phosphatase Deficiency
|
|
Lowe Disease
|
Phosphatidylinositol 4,5-Biphosphate 5-Phosphatase Deficiency
|
|
Cerebrooculorenal Syndrome
|
Phosphatidylinositol-4,5-Bisphosphate-5-Phosphatase Deficiency
|
|
Lowe Oculo-Cerebro-Renal Dystrophy
|
Lowe Oculo-Cerebro-Renal Syndrome
|
|
Lowe Oculocerebrorenal Dystrophy
|
Low
|
|
Chromosome 11p Deletion Syndrome
|
Oculocerebrorenal Dystrophy
|
|
Cerebro-Oculorenal Dystrophy
|
Ocrl1 - [Oculocerebrorenal Syndrome]
|
|
Lowe-Terrey-Maclachlan Syndrome
|
Renal-Oculocerebrodystrophy
|
|
|
| Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Hypophosphatemic Nephrolithiasis/Osteoporosis 1
|
NPHLOP1
|
|
Nephrolithiasis-Osteoporosis, Hypophosphatemic, 1
|
Nephrolithiasis/Osteoporosis, Hypophosphatemic, Type 1
|
|
|
| Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Hereditary Hypophosphatemic Rickets With Hypercalciuria
|
HHRH
|
|
Hypophosphatemic Rickets With Hypercalciuria
|
Hypercalciuric Rickets
|
|
|
| Myotonia Congenita |
|
Congenital Myotonia, Autosomal Dominant Form
|
Congenital Myotonia
|
|
Thomsen And Becker Disease
|
Thomsen Disease
|
|
Thomsen'S Disease
|
Generalized Myotonia Of Thomsen
|
|
Congenital Myotonic Muscular Dystrophy
|
Myotonia Congenita Nos
|
|
|
| Kidney Disease |
|
Renal Failure
|
Kidney Failure
|
|
Kidney Diseases
|
Nephropathy
|
|
Abnormality Of The Kidney
|
Impaired Renal Function Disease
|
|
Renal Anomaly
|
Kidney Dysfunction
|
|
Renal Disease
|
Nephropathies
|
|
Renal Failure Adverse Event
|
Abnormal Renal Function
|
|
|
| Ureteral Obstruction |
|
|
| Adenine Phosphoribosyltransferase Deficiency |
|
Aprt Deficiency
|
2,8-Dihydroxyadenine Urolithiasis
|
|
APRTD
|
2,8-Dihydroxyadeninuria
|
|
Dihydroxyadeninuria
|
Urolithiasis, 2,8-Dihydroxyadenine
|
|
Urolithiasis, Dha
|
Nephrolithiasis, Dha
|
|
Dha Crystalline Nephropathy
|
Nephrolithiasis Dha
|
|
Urolithiasis Dha
|
|
|
| Renal Tubular Acidosis |
|
Acidosis Renal Tubular
|
Acidosis, Renal Tubular
|
|
Lightwood-Albright Syndrome
|
Lightwood Syndrome
|
|
Idiopathic Infantile Hypercalcemia - Mild Form
|
Kidney Tubular Acidosis
|
|
Renal Tubule Acidosis
|
Kidney Acidosis
|
|
Renal Acidosis
|
Renal Hyperchloremic Acidosis
|
|
Rta - [Renal Tubular Acidosis]
|
|
|
| X-Linked Nephrolithiasis Type I |
|
Nephrolithiasis 1
|
Nephrolithiasis X-Linked Recessive Type 1
|
|
Nphl1
|
X-Linked Nephrolithiasis With Renal Failure
|
|
X-Linked Recessive Urolithiasis Type 1
|
Xrn
|
|
|
| Night Blindness |
|
|
| Hypophosphatemic Nephrolithiasis/Osteoporosis |
|
Nephrolithiasis/Osteoporosis, Hypophosphatemic
|
|
|
| Cystic Fibrosis |
|
Mucoviscidosis
|
CF
|
|
Pseudomonas Aeruginosa, Susceptibility To Chronic Infection By, In Cystic Fibrosis
|
Pseudomonas Aeruginosa Chronic Infection By, In Cystic Fibrosis
|
|
Cystic Fibrosis Lung Disease, Modifier Of
|
Cystic Fibrosis Of Pancreas
|
|
Fibrocystic Disease Of Pancreas
|
Cf - [Cystic Fibrosis]
|
|
Cystic Fibrosis Nos
|
Fibrocystic Disease
|
|
Fibrocystic Disease Of The Pancreas
|
Mucoviscidosis Of Pancreas
|
|
Nonproliferative Fibrocystic Disease
|
Pancreatic Cystic Fibrosis
|
|
|
| Cystinuria |
|
CSNU
|
Cystinuria Type B
|
|
Cystinuria Type A
|
Cystinuria, Type I, Formerly
|
|
Csnu1, Formerly
|
Cystinuria, Type Ii, Formerly
|
|
Cystinuria, Type Iii, Formerly
|
Csnu3, Formerly
|
|
Cystinuria, Type Non-I, Formerly
|
Cystinuria-Lysinuria
|
|
Cystinuria-Lysinuria Syndrome
|
Csnu1
|
|
Csnu3
|
Cystinuria 1
|
|
Cystinuria Type A/B
|
Cystinuria Type I
|
|
Cystinuria Type Ii
|
Cystinuria Type Iii
|
|
Cystinuria Type Non-I
|
Cystinuria, Type A/B
|
|
Cystinuria Type 1
|
Cystinuria - Lysinuria
|
|
Csnu - [Cystinuria]
|
Cystine Disease
|
|
|
| Cystinosis |
|
Cystine Storage Disease
|
Cystine Diathesis
|
|
Cystine Disease
|
Cystinoses
|
|
Protein Defect Of Cystin Transport
|
Cystin Transport, Protein Defect Of
|
|
Nephropathic Cystinosis
|
Protein Defect Of Cystine Transport
|
|
|
| Schimmelpenning-Feuerstein-Mims Syndrome |
|
Nevus Sebaceus Of Jadassohn
|
Organoid Nevus Phakomatosis
|
|
Linear Nevus Sebaceous Syndrome
|
Sfm Syndrome
|
|
Jadassohn Nevus Phakomatosis
|
Jnp
|
|
Schimmelpenning Syndrome
|
Solomon Syndrome
|
|
SFM
|
Linear Sebaceous Nevus Syndrome
|
|
Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic
|
Nevus Sebaceus Syndrome
|
|
Organoid Nevus Syndrome
|
Schimmelpenning Feuerstein Mims Syndrome
|
|
Sebaceous Nevus Syndrome, Linear
|
Epidermal Nevus Syndrome, Formerly
|
|
Sebaceous Nevus Syndrome Linear
|
Linear Nevus Sebaceus Syndrome
|
|
Epidermal Nevus Syndrome
|
Ss
|
|
Nevus Sebaceous
|
|
|
| Cataract |
|
Cataracts
|
Cat - [Cataract]
|
|
Cataract Form
|
Lens Opacity
|
|
Lens Opacities
|
|
|
| Megalencephalic Leukoencephalopathy With Subcortical Cysts |
|
Vacuolating Megalencephalic Leukoencephalopathy With Subcortical Cysts
|
Mlc
|
|
Van Der Knaap Disease
|
Lvm
|
|
Leukoencephalopathy With Swelling And Cysts
|
Megalencephaly-Cystic Leukodystrophy
|
|
Megalencephalic Leukodystrophy Megalencephaly-Cystic Leukodystorphy Syndrome
|
Infantile Leukoencephalopathy And Megalencephaly
|
|
Leukoencephalopathy With Swelling And A Discrepantly Mild Course
|
Vacuolating Leukoencephalopathy
|
|
Megalencephalic Leukodystrophy
|
Megalencephaly-Cystic Leukodystrophy Syndrome
|
|
Van Der Knaap Syndrome
|
Leukoencephalopathy, Megalencephalic, With Subcortical Cysts
|
|
|
| Alport Syndrome |
|
Hereditary Nephritis
|
Alport Syndrome, X-Linked
|
|
Hemorrhagic Hereditary Nephritis
|
Congenital Hereditary Hematuria
|
|
Hemorrhagic Familial Nephritis
|
Familial Nephritis
|
|
Thin Basement Membrane Disease
|
Thin Basement Membrane Nephropathy
|
|
Hematuria-Nephropathy-Deafness Syndrome
|
Hematuric Hereditary Nephritis
|
|
Hereditary Familial Congenital Hemorrhagic Nephritis
|
Hereditary Hematuria Syndrome
|
|
Hereditary Interstitial Pyelonephritis
|
Alport Deafness-Nephropathy
|
|
Alport Hearing Loss-Nephropathy
|
Alports Syndrome
|
|
Nephritis, Hereditary
|
|
|
