| 疾病名称 |
别名 |
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| Bartter Syndrome, Type 4a, Neonatal, With Sensorineural Deafness |
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Bsnd
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Sensorineural Deafness With Mild Renal Dysfunction
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Bartter Disease Type 4a
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BARTS4A
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Bartter Syndrome, Type 4a
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Bartter Syndrome Type 4
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Bartter Syndrome, Neonatal, With Sensorineural Deafness
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Bartter Syndrome With Sensorineural Deafness
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Bartter Syndrome Type 4a
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Neonatal Bartter Syndrome With Sensorineural Deafness
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Bartter Syndrome Type Iv
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Bartter Syndrome With Sensorineural Hearing Loss
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Bartter Syndrome 4a, Neonatal, With Sensorineural Deafness
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Hyperprostanglandin E Syndrome 4
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Hypokalemic Alkalosis With Hypercalciuria Antenatal 4
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Infantile Bartter Syndrome With Sensorineural Deafness
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| Bartter Disease |
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Bartter Syndrome
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Bartter'S Syndrome
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Aldosteronism With Hyperplasia Of The Adrenal Cortex
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Hypokalemic Alkalosis With Hypercalciuria
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Potassium Wasting
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Juxtaglomerular Hyperplasia With Secondary Aldosteronism
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Renal Tubular Normotensive Hypokalemic Alkalosis With Hypercalciuria
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Salt-Losing Tubular Disorder, Henle'S Loop Type
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Salt-Wasting Tubulopathy, Henle'S Loop Type
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Bartters Syndrome
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| Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb |
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Autosomal Recessive Isolated Neurosensory Deafness Type Dfnb
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Autosomal Recessive Isolated Neurosensory Hearing Loss Type Dfnb
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Autosomal Recessive Isolated Sensorineural Deafness Type Dfnb
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Autosomal Recessive Isolated Sensorineural Hearing Loss Type Dfnb
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Autosomal Recessive Non-Syndromic Neurosensory Deafness Type Dfnb
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Autosomal Recessive Non-Syndromic Neurosensory Hearing Loss Type Dfnb
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Autosomal Recessive Non-Syndromic Sensorineural Hearing Loss Type Dfnb
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| Hypokalemia |
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Potassium Deficiency
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Potassium Deficiency Disorder
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Hypopotassemia
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Potassium
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Potassium [K] Deficiency
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Hypokalaemic Syndrome
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Hypopotassaemia
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Hypopotassaemia Syndrome
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Hypokalaemic
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Potassium Depletion
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| Gitelman Syndrome |
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Familial Hypokalemia-Hypomagnesemia
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Hypomagnesemia-Hypokalemia, Primary Renotubular, With Hypocalciuria
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Potassium And Magnesium Depletion
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GTLMNS
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Gitelman'S Syndrome
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Gs
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Hypokalemia-Hypomagnesemia, Primary Renotubular, With Hypocalciuria
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Tubular Hypomagnesemia-Hypokalemia With Hypocalcuria
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Bartter Syndrome Gitelman Variant
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Bartter Syndrome Hypocalciuric Variant
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Primary Renotubular Hypomagnesemia-Hypokalemia With Hypocalciuria
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| Deafness, Autosomal Recessive |
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| Autosomal Recessive Nonsyndromic Deafness |
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Deafness, Autosomal Recessive, Nonsyndromic
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| Nephrogenic Diabetes Insipidus |
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Vasopressin-Resistant Diabetes Insipidus
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Diabetes Insipidus, Nephrogenic
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Diabetes Insipidus Nephrogenic
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Congenital Nephrogenic Diabetes Insipidus
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Adh Resistant Diabetes Insipidus
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Diabetes Insipidus Nephrogenic X-Linked
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Diabetes Insipidus Nephrogenic Type 1
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Adh-Resistant Diabetes Insipidus
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Diabetes Insipidus Renalis
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Ndi
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Renal Diabetes Insipidus
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Familial Nephrogenic Diabetes
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Antidiuretic-Hormone-Resistant Diabetes Insipidus
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Adiuretin-Resistant Diabetes Insipidus
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Ndi - [Nephrogenic Diabetes Insipidus]
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Diabetes Tenuifluus
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Adh - [Antidiuretic-Hormone] Resistant Diabetes Insipidus
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Hereditary Nephrogenic Diabetes Insipidus
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Familial Nephrogenic Diabetes Insipidus
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Primary Nephrogenic Diabetes Insipidus
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| Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance |
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Sesame Syndrome
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East Syndrome
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SESAMES
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Epilepsy, Ataxia, Sensorineural Deafness And Tubulopathy
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Seizures, Sensorineural Deafness, Ataxia, Mental Retardation And Electrolyte Imbalance
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Epilepsy-Ataxia-Sensorineural Deafness-Tubulopathy Syndrome
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Seizures-Sensorineural Deafness-Ataxia-Intellectual Disability-Electrolyte Imbalance Syndrome
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Epilepsy, Ataxia, Sensorineural Deafness, And Tubulopathy
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Seizures - Sensorineural Deafness - Ataxia - Intellectual Disability - Electrolyte Imbalance
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Epilepsy-Ataxia-Sensorineural Hearing Loss-Tubulopathy Syndrome
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Seizures-Sensorineural Hearing Loss-Ataxia-Intellectual Disability-Electrolyte Imbalance Syndrome
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Seizures, Sensorineural Deafness, Ataxia, Intellectual Disability, And Electrolyte Imbalance
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Epilepsy Ataxia Sensorineural Deafness And Tubulopathy
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Seizures, Sensorineural Deafness, Ataxia, Intellectual Disability, And Electrolyte Imbalance Syndrome
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| Renal Tubular Transport Disease |
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Renal Tubular Transport, Inborn Errors
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Inborn Renal Tubular Transport Disorder
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| Diabetes Insipidus |
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| Bartter Syndrome, Type 3 |
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Bartter Disease Type 3
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BARTS3
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Bartter Syndrome Type 3
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Bartter Syndrome, Classic
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Classic Bartter Syndrome
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Bartter Syndrome Classic
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Bartter Syndrome Type Iii
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Bartter Syndrome 3
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| Bartter Syndrome, Type 2, Antenatal |
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Bartter Disease Type 2
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BARTS2
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Hyperprostaglandin E Syndrome 2
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Bartter Syndrome, Type 2
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Bartter Syndrome Type 2
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Hypokalemic Alkalosis With Hypercalciuria Antenatal 2
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Hypokalemic Alkalosis With Hypercalciuria 2, Antenatal
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Bartter Syndrome Type 2 Antenatal
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Hypokalemic Alkalosis With Hypercalciuria 2 Antenatal
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Bartter Syndrome Antenatal Type 2
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Bartter Syndrome Type Ii
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Bartter Syndrome 2, Antenatal
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Abs2
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Antenatal Bartter Syndrome 2
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Bartter Syndrome 2
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Bs2
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Hyperprostanglandin E Syndrome 2
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Bartter Syndrome, Antenatal , Type 2
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Antley-Bixler Syndrome, Autosomal Dominant
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| Nephrolithiasis |
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Kidney Stones
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Stone - Kidney/Ureter
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Kidney Calculi
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| Hypomagnesemia 5, Renal, With Or Without Ocular Involvement |
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Fhhnc With Severe Ocular Involvement
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Renal Hypomagnesemia 5 With Ocular Involvement
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Meier Blumberg Imahorn Syndrome
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HOMG5
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Hypomagnesemia, Renal, With Ocular Involvement
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Hypomagnesemia 5, Renal, With Ocular Involvement
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Familial Hypomagnesemia With Hypercalciuria, Nephrocalcinosis And Severe Ocular Involvement
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Hypercalciuria-Bilateral Macular Coloboma Syndrome
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Meier-Blumberg-Imahorn Syndrome
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Hypomagnesemia, Familial, With Hypercalciuria, Nephrocalcinosis, And Severe Ocular Involvement
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Macular Coloboma, Bilateral, With Hypercalciuria
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Bilateral Macular Coloboma With Hypercalciuria
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Idiopathic Hypercalciuria With Bilateral Macular Colobomata
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Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement
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Hypomagnesemia 5
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Hypomagnesemia 5 Renal With Ocular Involvement
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Hypomagnesemia Renal With Ocular Involvement
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Macular Coloboma Bilateral With Hypercalciuria
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Hypomagnesemia, Type 5, Renal, With Ocular Involvement
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| Sensorineural Hearing Loss |
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Sensory Hearing Loss
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Sensorineural Deafness
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Sensorineural Hearing Loss Disorder
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Hearing Loss, Sensorineural
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Central Hearing Loss
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High Frequency Deafness
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High Frequency Hearing Loss
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High-Frequency Hearing Loss
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Perceptive Deafness
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Perceptive Hearing Loss
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Perceptive Hearing Loss Or Deafness
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Hearing Loss Sensorineural
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Deafness Sensorineural
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Hearing Loss High-Frequency
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Hearing Loss, Central
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Hearing Loss, High-Frequency
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| Diarrhea 1, Secretory Chloride, Congenital |
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DIAR1
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Chloride Diarrhea, Congenital, Finnish Type
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Congenital Secretory Chloride Diarrhea 1
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Congenital Chloride Diarrhea Finnish Type
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Congenital Chloride Diarrhea
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Chloridorrhea, Congenital
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Congenital Chloride Diarrhoea Finnish Type
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Congenital Chloridorrhea
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Congenital Secretory Chloride Diarrhoea 1
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Chloridorrhea Congenital
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Cld
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Diarrhea 1 Secretory Chloride Congenital
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Diarrhea, Type 1, Chloride, Secretory, Congenital
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| Dent Disease 1 |
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Dent Disease
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Dent'S Disease
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Dent Disease 2
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Dent Disease Type 1
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DENT1
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Urolithiasis, Hypercalciuric, X-Linked
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Nephrolithiasis 2
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Nphl2
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Dent Syndrome
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Dents Disease
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Low-Molecular-Weight Proteinuria With Hypercalciuria And Nephrocalcinosis
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Renal Fanconi Syndrome With Nephrocalcinosis And Renal Stones
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X-Linked Recessive Hypercalciuric Hypophosphatemic Rickets
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X-Linked Recessive Nephrolithiasis
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Fanconi Syndrome, Renal, With Nephrocalcinosis And Renal Stones
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Nephrolithiasis, Hypercalciuric, X-Linked
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Nephrolithiasis-Hypercalciuria X-Linked Recessive
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Nephrolithiasis, X-Linked Recessive
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Dent Disease, Type 1
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| Bartter Syndrome, Type 1, Antenatal |
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Hyperprostaglandin E Syndrome 1
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Bartter Disease Type 1
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BARTS1
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Bartter Syndrome, Type 1
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Bartter Syndrome Type 1
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Hypokalemic Alkalosis With Hypercalciuria Antenatal 1
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Hypokalemic Alkalosis With Hypercalciuria 1, Antenatal
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Bartter Syndrome Type 1 Antenatal
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Hypokalemic Alkalosis With Hypercalciuria 1 Antenatal
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Bartter Syndrome Antenatal Type 1
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Antenatal Bartter Syndrome Type 1
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Bartter Syndrome Type I
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Bartter Syndrome 1, Antenatal
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Abs1
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Antenatal Bartter Syndrome 1
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Bs1
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Bartter Syndrome, Antenatal Type 1
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Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
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| Primary Hypomagnesemia |
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Familial Primary Hypomagnesemia
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Homg
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Primary Familial Hypomagnesemia
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Genetic Primary Hypomagnesemia
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Hypomagnesemia 1, Intestinal
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| Polyhydramnios |
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| Myotonia Congenita |
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Congenital Myotonia, Autosomal Dominant Form
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Congenital Myotonia
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Thomsen And Becker Disease
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Thomsen Disease
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Thomsen'S Disease
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Generalized Myotonia Of Thomsen
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Congenital Myotonic Muscular Dystrophy
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Myotonia Congenita Nos
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| Auditory System Disease |
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Ear Diseases
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Ear And Mastoid Disease
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| Chronic Kidney Disease |
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Chronic Renal Disease
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Chronic Kidney Failure
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Ckd
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Chronic Renal Failure
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Kidney Failure, Chronic
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Chronic Renal Failure Syndrome
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Crf
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Renal Failure - Chronic
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Renal Failure Chronic
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Chronic Kidney Diseases
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Chronic Kidney Disease Stage 5
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Ckd - [Chronic Kidney Disease]
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Crf - [Chronic Renal Failure]
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Chronic Kidney Impairment
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Chronic Renal Impairment
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Chronic Kidney Shutdown
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Chronic Hypoxic Kidney Failure
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Chronic Kidney Collapse
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Chronic Renal Insufficiency
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Chronic Kidney Toxaemia
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Chronic Kidney Hypofunction
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Chronic Renal Suppression
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Chronic Renal Failure, Stage 5
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Ckd - [Chronic Kidney Disease] Stage 5
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End Stage Kidney Failure
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End Stage Renal Failure
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End Stage Kidney Disease
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End Stage Renal Disease
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End Stage Chronic Renal Failure
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Esrf - [End Stage Renal Failure]
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Esrd - [End Stage Renal Diseases]
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Egfr - [Estimated Glomerular Filtration Rate] < 15 Ml/Min/1.73m²
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| Conn'S Syndrome |
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Cushing Syndrome
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Hyperaldosteronism
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Primary Hyperaldosteronism
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Hypercortisolism
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Primary Aldosteronism
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Cushing'S Syndrome
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Adrenal Gland Hyperfunction
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Conn Syndrome
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Hyperadrenalism
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Ectopic Acth Syndrome
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Hyperadrenocorticism
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Cushing Disease
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Cushing'S Disease
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Adrenal Cortex Adenoma
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Corticotroph Pituitary Adenoma
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Pituitary Corticotroph Micro-Adenoma
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Pituitary-Dependent Cushing Syndrome
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Pituitary Acth Hypersecretion
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Acth Syndrome, Ectopic
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Acth-Secreting Pituitary Adenoma
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Adrenal Hyperfunction Resulting From Pituitary Acth Excess
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Ectopic Adrenocorticotropic Hormone Syndrome
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Nodular Primary Adrenocortical Dysplasia
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Pituitary Dependent Cushing Syndrome
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Pituitary Cushing Syndrome
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Pituitary-Dependant Cushing Syndrome
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Pituitary-Dependant Hypercortisolism
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Pituitary-Dependant Hypercortisolism Disorder
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Aldosteronism Primary
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Acth Syndrome Ectopic
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Adrenal Cushing'S Syndrome
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Adrenal Cortical Adenoma
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Cushing Syndrome Nos
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Cortisol Hypersecretion
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Corticoadrenal Hypersecretion
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Cushing Syndrome Secondary To Ectopic Acth-Secretion
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Ectopic Cushing Syndrome
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Hypercortisolism Due To Nonpituitary Tumour
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Ectopic Acth - [Adrenocorticotropic Hormone] Secretion
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Ectopic Acth - [Adrenocorticotropic Hormone] Secretion Causing Cushing Syndrome
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Idiopathic Aldosteronism
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Aldosteronism
|
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Primary Aldosteronism Due To Bilateral Adrenal Hyperplasia
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Primary Aldosteronism Due To Adrenal Hyperplasia
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| Inner Ear Disease |
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Labyrinthine Dysfunction
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Diseases Of Inner Ear
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Labyrinthine Disease
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Abnormality Of The Inner Ear
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Labyrinth Diseases
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Labyrinthine Disorder
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Nonfunctioning Labyrinth
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Labyrinthine Loss Of Function
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Labyrinthine Syndrome
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Labyrinthine Disorder Nos
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| Megalencephalic Leukoencephalopathy With Subcortical Cysts |
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Vacuolating Megalencephalic Leukoencephalopathy With Subcortical Cysts
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Mlc
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Van Der Knaap Disease
|
Lvm
|
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Leukoencephalopathy With Swelling And Cysts
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Megalencephaly-Cystic Leukodystrophy
|
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Megalencephalic Leukodystrophy Megalencephaly-Cystic Leukodystorphy Syndrome
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Infantile Leukoencephalopathy And Megalencephaly
|
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Leukoencephalopathy With Swelling And A Discrepantly Mild Course
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Vacuolating Leukoencephalopathy
|
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Megalencephalic Leukodystrophy
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Megalencephaly-Cystic Leukodystrophy Syndrome
|
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Van Der Knaap Syndrome
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Leukoencephalopathy, Megalencephalic, With Subcortical Cysts
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| Liddle Syndrome 1 |
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Liddle Syndrome
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Pseudoaldosteronism
|
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Liddle'S Syndrome
|
LIDLS1
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Lidls
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Pseudohyperaldosteronism
|
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Pseudoprimary Hyperaldosteronism
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Pseudohyperaldosteronism Type 1
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Liddles Syndrome
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