ATP6V1B1 - ATPase H+ transporting V1 subunit B1 Gene

Renal Tubular Acidosis With Progressive Nerve Deafness

Rta With Progressive Nerve Deafness

Renal Tubular Acidosis, Autosomal Recessive, With Progressive Nerve Deafness

Renal Tubular Acidosis With Deafness

DRTA2

Ar Drta With Hearing Loss

Autosomal Recessive Distal Renal Tubular Acidosis With Deafness

Renal Tubular Acidosis Type 1b

Renal Tubular Acidosis, Distal, With Progressive Nerve Deafness

Distal Renal Tubular Acidosis 2 With Progressive Sensorineural Hearing Loss

Ar Drta Wth Deafness

Autosomal Recessive Distal Renal Tubular Acidosis With Hearing Loss

Renal Tubular Acidosis Progressive Nerve Deafness

Ar Drta With Deafness

Autosomal Recessive Renal Tubular Acidosis With Progressive Nerve Deafness

Distal Renal Tubular Acidosis With Deafness

Acidosis, Tubular, Renal, With Progressive Nerve Deafness

Hypercalcemic Nephropathy

Classic Rta

Familial Distal Primary Acidosis

Renal Tubular Acidosis Type 1

Drta

Renal Tubular Acidosis, Distal

Autosomal Recessive Distal Renal Tubular Acidosis

Autosomal Recessive Distal Rta

Renal Tubular Acidosis, Distal, Autosomal Recessive

DRTA3

Rtadr

Ar Drta

Distal Renal Tubular Acidosis 3, With Or Without Sensorineural Hearing Loss

Renal Tubular Acidosis, Distal, Autosomal Recessive, With Late-Onset Sensorineural Hearing Loss, Included

Rta, Distal, Autosomal Recessive

Renal Tubular Acidosis, Autosomal Recessive With Preserved Hearing

Distal Renal Tubular Acidosis With Late-Onset Sensorineural Hearing Loss

Distal Renal Tubular Acidosis With Preserved Hearing

Acidosis, Tubular, Renal, Distal, Autosomal Recessive

Postaxial Polydactyly Type A

Polydactyly, Postaxial

Postaxial Polydactyly

PAPA1

Postaxial Polydactyly, Type A

Papa

Polydactyly, Postaxial, Types A1 And B

Postaxial Polydactyly Type B

Polydactyly Postaxial

Polydactyly, Postaxial A1

Polydactyly, Postaxial B

PAPB

Postaxial Polydactyly, Type A1/B

Polydactyly, Postaxial, Type A

Pyogenic Arthritis, Pyoderma Gangrenosum And Acne

Postaxial Polydactyly, Type B

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]

Rare Genetic Hearing Loss

Kidney Stones

Stone - Kidney/Ureter

Kidney Calculi

Sensory Hearing Loss

Sensorineural Deafness

Sensorineural Hearing Loss Disorder

Hearing Loss, Sensorineural

Central Hearing Loss

High Frequency Deafness

High Frequency Hearing Loss

High-Frequency Hearing Loss

Perceptive Deafness

Perceptive Hearing Loss

Perceptive Hearing Loss Or Deafness

Hearing Loss Sensorineural

Deafness Sensorineural

Hearing Loss High-Frequency

Hearing Loss, Central

Hearing Loss, High-Frequency

OPTB1

Autosomal Recessive Osteopetrosis 1

Autosomal Recessive Albers-Schonberg Disease

Infantile Malignant Osteopetrosis

Osteopetrosis, Infantile Malignant 1

Marble Bones, Autosomal Recessive

Albers-Schonberg Disease, Autosomal Recessive

Infantile Malignant Osteopetrosis 1

Osteopetrosis Autosomal Recessive 1

Autosomal Recessive Osteopetrosis Type 1

Marble Bones Autosomal Recessive

Osteopetrosis Infantile Malignant 1

Osteopetrosis, Autosomal Recessive, Type 1

Cacchi-Ricci Disease

Msk

Precalicial Canalicular Ectasia

Cacchi Ricci Disease

Cacchi-Ricci Syndrome

Cystic Dilatation Of Renal Collecting Tubes

Precalyceal Canalicular Ectasia

Sponge Kidney

Congenital Cystic Kidney Disease

Msk - [Medullary Sponge Kidney]

Sponge Kidney Nos

Osteopetrosis With Renal Tubular Acidosis

Marble Brain Disease

OPTB3

Guibaud-Vainsel Syndrome

Carbonic Anhydrase Ii Deficiency

Osteopetrosis, Autosomal Recessive 3, With Renal Tubular Acidosis

Autosomal Recessive Osteopetrosis 3

Carbonic Anhydrase 2 Deficiency

Autosomal Recessive Osteopetrosis 3 With Renal Tubular Acidosis

Osteopetrosis Autosomal Recessive 3

Autosomal Recessive Osteopetrosis Type 3

Guibaud Vainsel Syndrome

Mixed Rta

Mixed Renal Tubular Acidosis

Renal Tubular Acidosis Type 3

Carbonic Anhydrase Ii Deficiency Syndrome

Carbonic Anhydrase Ii Variant

Osteopetrosis, Autosomal Recessive, Type 3

Carbonic Anhydrase 2

OPTB6

Autosomal Recessive Osteopetrosis 6

Autosomal Recessive Osteopetrosis Intermediate Form

Osteopetrosis, Autosomal Recessive, Intermediate Form

Osteopetrosis Autosomal Recessive 6

Autosomal Recessive Osteopetrosis Type 6

Osteopetrosis Autosomal Recessive Intermediate Form

Intermediate Osteopetrosis

Autosomal Recessive Intermediate Osteopetrosis

Osteopetrosis, Autosomal Recessive, Type 6

OPTB5

Autosomal Recessive Osteopetrosis 5

Infantile Malignant Osteopetrosis 3

Osteopetrosis, Infantile Malignant 3

Osteopetrosis Autosomal Recessive 5

Osteopetrosis And Infantile Neuroaxonal Dystrophy

Autosomal Recessive Osteopetrosis Type 5

Osteopetrosis Infantile Malignant 3

Osteopetrosis, Autosomal Recessive, Type 5

Renal Tubular Transport, Inborn Errors

Inborn Renal Tubular Transport Disorder

OPTB7

Autosomal Recessive Osteopetrosis 7

Autosomal Recessive Osteoclast-Poor Osteopetrosis With Hypogammaglobulinemia

Autosomal Recessive Osteopetrosis Type 7

Osteoclast-Poor Osteopetrosis With Hypogammaglobulinemia

Osteopetrosis-Hypogammaglobulinemia Syndrome

Osteopetrosis, Osteoclast-Poor, With Hypogammaglobulinemia

Osteopetrosis Autosomal Recessive 7

Osteopetrosis Osteoclast-Poor With Hypogammaglobulinemia

Osteopetrosis, Autosomal Recessive, Type 7

Autosomal Recessive Osteopetrosis 4

OPTB4

Infantile Malignant Osteopetrosis 2

Osteopetrosis, Infantile Malignant 2

Osteopetrosis, Autosomal Recessive, Type 4

Enlarged Vestibular Aqueduct

DFNB4

Neurosensory Nonsyndromic Recessive Deafness 4

Enlarged Vestibular Aqueduct Syndrome

Nsrd4

Autosomal Recessive Nonsyndromic Deafness 4

Dilated Vestibular Aqueduct

Dva

Enlarged Vestibular Aqueduct, Digenic

Autosomal Recessive Deafness 4 With Enlarged Vestibular Aqueduct

Large Vestibular Aqueduct Syndrome

Deafness, Autosomal Recessive, 4

Deafness Neurosensory Autosomal Recessive 4

Eva

Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 4

Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 4

Deafness, Autosomal Recessive, Type 4 , With Enlarged Vestibular Aqueduct

Kallmann Syndrome 2

Kal2

HH2

Hypogonadism, Hypogonadotropic, Type 2 With/Without Anosmia

Diabetes Insipidus, Nephrogenic, Autosomal

NDI2

Diabetes Insipidus, Nephrogenic, Type Ii

Diabetes Insipidus, Nephrogenic, 2

Nephrogenic Diabetes Insipidus Type 2

Autosomal Nephrogenic Diabetes Insipidus-2

Diabetes Insipidus, Nephrogenic Type 2

ANDI

Diabetes Insipidus Nephrogenic Type 2

Doid:0081061

Nephrogenic Diabetes Insipidus

Congenital Nephrogenic Diabetes Insipidus

Adh-Resistant Diabetes Insipidus

Autosomal Recessive Pseudohypoaldosteronism Type 1

PHA1B

Pseudohypoaldosteronism Type 1

Pseudohypoaldosteronism, Type I

Generalized Pha1

Generalized Pseudohypoaldosteronism Type 1

Pseudohypoaldosteronism Type 1 Autosomal Recessive

Pha1

Pseudohypoaldosteronism

Pha I, Autosomal Recessive

Autosomal Recessive Pha 1

Pseudohypoaldosteronism Type 1, Recessive

Pseudohypoaldosteronism Type I

Autosomal Recessive Pha1

Pha Type 1

Pseudohypoaldosteronism 1, Autosomal Recessive

Multisystem Pseudohypoaldosteronism

Pha Type I, Autosomal Recessive

Pseudohypoaldosteronism Type I, Autosomal Recessive

DFNB91

Autosomal Recessive Nonsyndromic Deafness 91

Autosomal Recessive Deafness 91

Deafness, Autosomal Recessive, 91

Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 91

Deafness, Autosomal Recessive, Type 91

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

Vestibular Diseases

Vertigo, Vestibular Disorder

Vestibular Disorder

Diseases Of Inner Ear

Labyrinthine Dysfunction

Diseases Of Inner Ear

Labyrinthine Disease

Abnormality Of The Inner Ear

Labyrinth Diseases

Labyrinthine Disorder

Nonfunctioning Labyrinth

Labyrinthine Loss Of Function

Labyrinthine Syndrome

Labyrinthine Disorder Nos

Ear Diseases

Ear And Mastoid Disease

Congenital Elliptocytosis

Ovalocytosis

Elliptocytosis, Hereditary

He

Elliptocytosis Hereditary

Congenital Ovalocytosis

Elliptocytosis

Hereditary Elliptocytosis With Infantile Poikilocytosis

Hereditary Ovalocytosis

Oval Erythrocytosis

He - [Hereditary Elliptocytosis]

Elliptocytosis Anaemia

Potassium Deficiency

Potassium Deficiency Disorder

Hypopotassemia

Potassium

Potassium [K] Deficiency

Hypokalaemic Syndrome

Hypopotassaemia

Hypopotassaemia Syndrome

Hypokalaemic

Potassium Depletion

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 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