| Diseases |
Alias |
|
| Renal Tubular Acidosis, Distal, 2, With Progressive Sensorineural Hearing Loss |
|
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
|
|
|
| Nephrocalcinosis |
|
Hypercalcemic Nephropathy
|
|
|
| Distal Renal Tubular Acidosis |
|
Classic Rta
|
Familial Distal Primary Acidosis
|
|
Renal Tubular Acidosis Type 1
|
Drta
|
|
Renal Tubular Acidosis, Distal
|
|
|
| Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
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
|
|
|
| Polydactyly, Postaxial, Type A1 |
|
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
|
|
|
| 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]
|
|
|
| Rare Genetic Deafness |
|
Rare Genetic Hearing Loss
|
|
|
| Metabolic Acidosis |
|
|
| Nephrolithiasis |
|
Kidney Stones
|
Stone - Kidney/Ureter
|
|
Kidney Calculi
|
|
|
| Sensorineural Hearing Loss |
|
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
|
|
|
| Osteopetrosis, Autosomal Recessive 1 |
|
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
|
|
|
| Medullary Sponge Kidney |
|
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, Autosomal Recessive 3 |
|
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
|
|
|
| Osteopetrosis, Autosomal Recessive 6 |
|
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
|
|
|
| Osteopetrosis, Autosomal Recessive 5 |
|
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 Disease |
|
Renal Tubular Transport, Inborn Errors
|
Inborn Renal Tubular Transport Disorder
|
|
|
| Osteopetrosis, Autosomal Recessive 7 |
|
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
|
|
|
| Osteopetrosis, Autosomal Recessive 4 |
|
Autosomal Recessive Osteopetrosis 4
|
OPTB4
|
|
Infantile Malignant Osteopetrosis 2
|
Osteopetrosis, Infantile Malignant 2
|
|
Osteopetrosis, Autosomal Recessive, Type 4
|
|
|
| Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
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
|
|
|
| Hypogonadotropic Hypogonadism 2 With Or Without Anosmia |
|
Kallmann Syndrome 2
|
Kal2
|
|
HH2
|
Hypogonadism, Hypogonadotropic, Type 2 With/Without Anosmia
|
|
|
| Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
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
|
|
|
| Pseudohypoaldosteronism, Type I, Autosomal Recessive |
|
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
|
|
|
| Deafness, Autosomal Recessive 91 |
|
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 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
|
|
|
| Vestibular Disease |
|
Vestibular Diseases
|
Vertigo, Vestibular Disorder
|
|
Vestibular Disorder
|
Diseases Of Inner Ear
|
|
|
| Inner Ear Disease |
|
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
|
|
|
| Auditory System Disease |
|
Ear Diseases
|
Ear And Mastoid Disease
|
|
|
| Hereditary Elliptocytosis |
|
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
|
|
|
| Hypokalemia |
|
Potassium Deficiency
|
Potassium Deficiency Disorder
|
|
Hypopotassemia
|
Potassium
|
|
Potassium [K] Deficiency
|
Hypokalaemic Syndrome
|
|
Hypopotassaemia
|
Hypopotassaemia Syndrome
|
|
Hypokalaemic
|
Potassium Depletion
|
|
|
| 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
|
|
|
