| 疾病名称 |
别名 |
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| Renal Tubular Acidosis, Distal, 2, With Progressive Sensorineural Hearing Loss |
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Renal Tubular Acidosis With Progressive Nerve Deafness
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Rta With Progressive Nerve Deafness
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Renal Tubular Acidosis, Autosomal Recessive, With Progressive Nerve Deafness
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Renal Tubular Acidosis With Deafness
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DRTA2
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Ar Drta With Hearing Loss
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Autosomal Recessive Distal Renal Tubular Acidosis With Deafness
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Renal Tubular Acidosis Type 1b
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Renal Tubular Acidosis, Distal, With Progressive Nerve Deafness
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Distal Renal Tubular Acidosis 2 With Progressive Sensorineural Hearing Loss
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Ar Drta Wth Deafness
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Autosomal Recessive Distal Renal Tubular Acidosis With Hearing Loss
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Renal Tubular Acidosis Progressive Nerve Deafness
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Ar Drta With Deafness
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Autosomal Recessive Renal Tubular Acidosis With Progressive Nerve Deafness
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Distal Renal Tubular Acidosis With Deafness
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Acidosis, Tubular, Renal, With Progressive Nerve Deafness
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| Nephrocalcinosis |
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Hypercalcemic Nephropathy
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| Distal Renal Tubular Acidosis |
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Classic Rta
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Familial Distal Primary Acidosis
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Renal Tubular Acidosis Type 1
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Drta
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Renal Tubular Acidosis, Distal
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| Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
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Autosomal Recessive Distal Renal Tubular Acidosis
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Autosomal Recessive Distal Rta
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Renal Tubular Acidosis, Distal, Autosomal Recessive
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DRTA3
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Rtadr
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Ar Drta
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Distal Renal Tubular Acidosis 3, With Or Without Sensorineural Hearing Loss
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Renal Tubular Acidosis, Distal, Autosomal Recessive, With Late-Onset Sensorineural Hearing Loss, Included
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Rta, Distal, Autosomal Recessive
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Renal Tubular Acidosis, Autosomal Recessive With Preserved Hearing
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Distal Renal Tubular Acidosis With Late-Onset Sensorineural Hearing Loss
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Distal Renal Tubular Acidosis With Preserved Hearing
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Acidosis, Tubular, Renal, Distal, Autosomal Recessive
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| Polydactyly, Postaxial, Type A1 |
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Postaxial Polydactyly Type A
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Polydactyly, Postaxial
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Postaxial Polydactyly
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PAPA1
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Postaxial Polydactyly, Type A
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Papa
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Polydactyly, Postaxial, Types A1 And B
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Postaxial Polydactyly Type B
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Polydactyly Postaxial
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Polydactyly, Postaxial A1
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Polydactyly, Postaxial B
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PAPB
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Postaxial Polydactyly, Type A1/B
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Polydactyly, Postaxial, Type A
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Pyogenic Arthritis, Pyoderma Gangrenosum And Acne
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Postaxial Polydactyly, Type B
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| Renal Tubular Acidosis |
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Acidosis Renal Tubular
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Acidosis, Renal Tubular
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Lightwood-Albright Syndrome
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Lightwood Syndrome
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Idiopathic Infantile Hypercalcemia - Mild Form
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Kidney Tubular Acidosis
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Renal Tubule Acidosis
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Kidney Acidosis
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Renal Acidosis
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Renal Hyperchloremic Acidosis
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Rta - [Renal Tubular Acidosis]
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| Rare Genetic Deafness |
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Rare Genetic Hearing Loss
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| Metabolic Acidosis |
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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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| 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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| Osteopetrosis, Autosomal Recessive 1 |
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OPTB1
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Autosomal Recessive Osteopetrosis 1
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Autosomal Recessive Albers-Schonberg Disease
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Infantile Malignant Osteopetrosis
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Osteopetrosis, Infantile Malignant 1
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Marble Bones, Autosomal Recessive
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Albers-Schonberg Disease, Autosomal Recessive
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Infantile Malignant Osteopetrosis 1
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Osteopetrosis Autosomal Recessive 1
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Autosomal Recessive Osteopetrosis Type 1
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Marble Bones Autosomal Recessive
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Osteopetrosis Infantile Malignant 1
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Osteopetrosis, Autosomal Recessive, Type 1
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| Medullary Sponge Kidney |
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Cacchi-Ricci Disease
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Msk
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Precalicial Canalicular Ectasia
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Cacchi Ricci Disease
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Cacchi-Ricci Syndrome
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Cystic Dilatation Of Renal Collecting Tubes
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Precalyceal Canalicular Ectasia
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Sponge Kidney
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Congenital Cystic Kidney Disease
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Msk - [Medullary Sponge Kidney]
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Sponge Kidney Nos
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| Osteopetrosis, Autosomal Recessive 3 |
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Osteopetrosis With Renal Tubular Acidosis
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Marble Brain Disease
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OPTB3
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Guibaud-Vainsel Syndrome
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Carbonic Anhydrase Ii Deficiency
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Osteopetrosis, Autosomal Recessive 3, With Renal Tubular Acidosis
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Autosomal Recessive Osteopetrosis 3
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Carbonic Anhydrase 2 Deficiency
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Autosomal Recessive Osteopetrosis 3 With Renal Tubular Acidosis
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Osteopetrosis Autosomal Recessive 3
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Autosomal Recessive Osteopetrosis Type 3
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Guibaud Vainsel Syndrome
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Mixed Rta
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Mixed Renal Tubular Acidosis
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Renal Tubular Acidosis Type 3
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Carbonic Anhydrase Ii Deficiency Syndrome
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Carbonic Anhydrase Ii Variant
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Osteopetrosis, Autosomal Recessive, Type 3
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Carbonic Anhydrase 2
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| Osteopetrosis, Autosomal Recessive 6 |
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OPTB6
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Autosomal Recessive Osteopetrosis 6
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Autosomal Recessive Osteopetrosis Intermediate Form
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Osteopetrosis, Autosomal Recessive, Intermediate Form
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Osteopetrosis Autosomal Recessive 6
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Autosomal Recessive Osteopetrosis Type 6
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Osteopetrosis Autosomal Recessive Intermediate Form
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Intermediate Osteopetrosis
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Autosomal Recessive Intermediate Osteopetrosis
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Osteopetrosis, Autosomal Recessive, Type 6
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| Osteopetrosis, Autosomal Recessive 5 |
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OPTB5
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Autosomal Recessive Osteopetrosis 5
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Infantile Malignant Osteopetrosis 3
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Osteopetrosis, Infantile Malignant 3
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Osteopetrosis Autosomal Recessive 5
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Osteopetrosis And Infantile Neuroaxonal Dystrophy
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Autosomal Recessive Osteopetrosis Type 5
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Osteopetrosis Infantile Malignant 3
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Osteopetrosis, Autosomal Recessive, Type 5
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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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| Osteopetrosis, Autosomal Recessive 7 |
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OPTB7
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Autosomal Recessive Osteopetrosis 7
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Autosomal Recessive Osteoclast-Poor Osteopetrosis With Hypogammaglobulinemia
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Autosomal Recessive Osteopetrosis Type 7
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Osteoclast-Poor Osteopetrosis With Hypogammaglobulinemia
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Osteopetrosis-Hypogammaglobulinemia Syndrome
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Osteopetrosis, Osteoclast-Poor, With Hypogammaglobulinemia
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Osteopetrosis Autosomal Recessive 7
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Osteopetrosis Osteoclast-Poor With Hypogammaglobulinemia
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Osteopetrosis, Autosomal Recessive, Type 7
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| Osteopetrosis, Autosomal Recessive 4 |
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Autosomal Recessive Osteopetrosis 4
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OPTB4
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Infantile Malignant Osteopetrosis 2
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Osteopetrosis, Infantile Malignant 2
|
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Osteopetrosis, Autosomal Recessive, Type 4
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| Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
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Enlarged Vestibular Aqueduct
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DFNB4
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Neurosensory Nonsyndromic Recessive Deafness 4
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Enlarged Vestibular Aqueduct Syndrome
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Nsrd4
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Autosomal Recessive Nonsyndromic Deafness 4
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Dilated Vestibular Aqueduct
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Dva
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Enlarged Vestibular Aqueduct, Digenic
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Autosomal Recessive Deafness 4 With Enlarged Vestibular Aqueduct
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Large Vestibular Aqueduct Syndrome
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Deafness, Autosomal Recessive, 4
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Deafness Neurosensory Autosomal Recessive 4
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Eva
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Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 4
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Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 4
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Deafness, Autosomal Recessive, Type 4 , With Enlarged Vestibular Aqueduct
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| Hypogonadotropic Hypogonadism 2 With Or Without Anosmia |
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Kallmann Syndrome 2
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Kal2
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HH2
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Hypogonadism, Hypogonadotropic, Type 2 With/Without Anosmia
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| Diabetes Insipidus, Nephrogenic, 2, Autosomal |
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Diabetes Insipidus, Nephrogenic, Autosomal
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NDI2
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Diabetes Insipidus, Nephrogenic, Type Ii
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Diabetes Insipidus, Nephrogenic, 2
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Nephrogenic Diabetes Insipidus Type 2
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Autosomal Nephrogenic Diabetes Insipidus-2
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Diabetes Insipidus, Nephrogenic Type 2
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ANDI
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Diabetes Insipidus Nephrogenic Type 2
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Doid:0081061
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Nephrogenic Diabetes Insipidus
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Congenital Nephrogenic Diabetes Insipidus
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Adh-Resistant Diabetes Insipidus
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| Pseudohypoaldosteronism, Type I, Autosomal Recessive |
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Autosomal Recessive Pseudohypoaldosteronism Type 1
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PHA1B
|
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Pseudohypoaldosteronism Type 1
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Pseudohypoaldosteronism, Type I
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Generalized Pha1
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Generalized Pseudohypoaldosteronism Type 1
|
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Pseudohypoaldosteronism Type 1 Autosomal Recessive
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Pha1
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Pseudohypoaldosteronism
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Pha I, Autosomal Recessive
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Autosomal Recessive Pha 1
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Pseudohypoaldosteronism Type 1, Recessive
|
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Pseudohypoaldosteronism Type I
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Autosomal Recessive Pha1
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Pha Type 1
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Pseudohypoaldosteronism 1, Autosomal Recessive
|
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Multisystem Pseudohypoaldosteronism
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Pha Type I, Autosomal Recessive
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Pseudohypoaldosteronism Type I, Autosomal Recessive
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| Deafness, Autosomal Recessive 91 |
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DFNB91
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Autosomal Recessive Nonsyndromic Deafness 91
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Autosomal Recessive Deafness 91
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Deafness, Autosomal Recessive, 91
|
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Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 91
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Deafness, Autosomal Recessive, Type 91
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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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| Vestibular Disease |
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Vestibular Diseases
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Vertigo, Vestibular Disorder
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Vestibular Disorder
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Diseases Of Inner Ear
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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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| Auditory System Disease |
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Ear Diseases
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Ear And Mastoid Disease
|
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| Hereditary Elliptocytosis |
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Congenital Elliptocytosis
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Ovalocytosis
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Elliptocytosis, Hereditary
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He
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Elliptocytosis Hereditary
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Congenital Ovalocytosis
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Elliptocytosis
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Hereditary Elliptocytosis With Infantile Poikilocytosis
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Hereditary Ovalocytosis
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Oval Erythrocytosis
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He - [Hereditary Elliptocytosis]
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Elliptocytosis Anaemia
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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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| Fanconi Syndrome |
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Infantile Nephropathic Cystinosis
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Adult Fanconi Syndrome
|
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Congenital Fanconi Syndrome
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De Toni-Fanconi Syndrome
|
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Fanconi-De Toni Syndrome
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Lignac-Fanconi Syndrome
|
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Fanconi Renotubular Syndrome
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Primary Fanconi Renotubular Syndrome
|
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De Toni-Debre-Fanconi Syndrome
|
Adult Fanconi Anemia
|
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Detoni Fanconi Syndrome
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Fanconi-De-Toni Syndrome
|
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Primary Fanconi Syndrome
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Detoni-Debre-Fanconi Syndrome
|
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Primary Fanconi Renal Syndrome
|
Fanconi Anemia
|
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Cystinosis, Infantile Nephropathic
|
Fanconi-Bickel Syndrome
|
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Renal Fanconi Syndrome
|
Lowe-Bickel Syndrome
|
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| Bartter Disease |
|
Bartter Syndrome
|
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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