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Term:
Nephropathy with Pretibial Epidermolysis Bullosa and Deafness (DOID:9004850)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
46,XX Sex Reversal with Dysgenesis of Kidneys, Adrenals, and Lungs  
Acrootoocular Syndrome 
acute urate nephropathy  
AIDS-Associated Nephropathy  
Alsing Syndrome 
anuria +   
Arnold Stickler Bourne Syndrome 
Arthrogryposis-like Hand Anomaly and Sensorineural Deafness 
Ataxia, Deafness, and Cardiomyopathy 
Athabaskan brainstem dysgenesis syndrome  
atheroembolism of kidney 
Auditory Neuropathy, Nonsyndromic Recessive 
AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE  
autosomal dominant cerebellar ataxia, deafness and narcolepsy  
autosomal dominant nonsyndromic deafness +   
autosomal recessive nonsyndromic deafness +   
autosomal recessive spinocerebellar ataxia 19  
Axenfeld-Rieger Anomaly with Cardiac Defects and Sensorineural Hearing Loss 
Ayme-Gripp Syndrome  
BADS syndrome 
Bart-Pumphrey syndrome  
Bartter disease type 4A  
Bartter disease type 4b  
Bifid Nose with or without Anorectal And Renal Anomalies  
Bjornstad syndrome  
Blue Diaper Syndrome 
Boudhina Yedes Khiari syndrome 
Brachydactyly, Intraventricular Septal Defect, and Deafness 
Brown-Vialetto-Van Laere syndrome +   
Bullous Dystrophy, Hereditary Macular Type 
CAKUT1  
CAPOS Syndrome  
Cataract Ataxia Deafness 
CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA  
Cerebellar Ataxia and Hypergonadotropic Hypogonadism 
Cerebellar Ataxia and Neurosensory Deafness 
Charcot-Marie-Tooth Disease and Deafness +   
Charcot-Marie-Tooth disease type 2J  
Charcot-Marie-Tooth disease X-linked recessive 4  
Chitty Hall Baraitser Syndrome 
Chudley-Mccullough syndrome  
Cleft Palate, Midfacial Hypoplasia, Triangular Facies, and Sensorineural Hearing Loss 
Cochleosaccular Degeneration of the Inner Ear and Progressive Cataracts 
Combined Pituitary Hormone Deficiency, 3  
Complement Factor H Deficiency  
Congenital Deafness with Inner Ear Agenesis, Microtia, and Microdontia  
Congenital Deafness, with Total Albinism 
Congenital Ectodermal Dysplasia with Hearing Loss 
Corneal Dystrophy and Perceptive Deafness  
cortical deafness +   
craniofacial-deafness-hand syndrome  
Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness  
cystic kidney disease +   
De Hauwere syndrome 
Deafness Enamel Hypoplasia Nail Defects  
Deafness Oligodontia Syndrome 
Deafness, Aminoglycoside-Induced  
Deafness, High-Frequency Sensorineural, X-Linked  
Deafness, Mid-Tone Neural 
Deafness, Progressive High-Tone Neural 
Deafness, X-Linked 1  
Deafness, X-Linked 3 
Deafness, X-Linked 4  
Deafness, X-Linked 5  
deafness-intellectual disability, Martin-Probst type syndrome  
diabetes insipidus +   
Diabetic Nephropathies  
Digitorenocerebral Syndrome  
dilated cardiomyopathy 1J  
Dimauro Disease  
dioctophymiasis 
Distal Renal Tubular Acidosis with Progressive Nerve Deafness  
Distal Renal Tubular Acidosis, Autosomal Recessive, with Late-Onset Sensorineural Hearing Loss  
dominant optic atrophy plus syndrome  
Donnai-Barrow syndrome  
EAST syndrome  
Ectodermal Dysplasia and Neurosensory Deafness 
Ectodermal Dysplasia, Sensorineural Hearing Loss, and Distinctive Facial Features 
epidermolysis bullosa acquisita 
epidermolysis bullosa dystrophica +   
epidermolysis bullosa simplex +   
Epidermolysis Bullosa with Deficiency of Galactosylhydroxylysyl Glucosyltransferase 
Epidermolysis Bullosa with Diaphragmatic Hernia 
Epidermolysis Bullosa, Lethal Acantholytic  
Epidermolysis Bullosa, Nonspecific, Autosomal Recessive  
Ermine Phenotype 
familial juvenile hyperuricemic nephropathy +   
Fitzsimmons Walson Mellor Syndrome 
Flynn Aird Syndrome 
Friedreich Ataxia, So-Called, with Optic Atrophy and Sensorineural Deafness 
Gemignani Syndrome 
Generalized Lipodystrophy, with Mental Retardation, Deafness, Short Stature, and Slender Bones 
Glomerular Diseases +   
Gonadal Dysgenesis, XX Type, with Deafness +   
Goodpasture syndrome +   
granulomatosis with polyangiitis +   
Griscelli syndrome +   
Hearing Loss, Cisplatin-Induced  
Hearing Loss, Noise-Induced  
Hearing Loss, Unilateral Sensorineural  
hemorrhagic fever with renal syndrome +   
Herrmann Syndrome 
HID Syndrome  
High-Frequency Hearing Loss  
histiocytosis-lymphadenopathy plus syndrome  
Hittner Hirsch Kreh Syndrome 
Homozygous 11p15-p14 Deletion Syndrome 
Hydranencephaly with Renal Aplasia-Dysplasia  
hydronephrosis +   
Hyperoxaluria +   
hypoparathyroidism-deafness-renal disease syndrome  
Ichthyosis, Mental Retardation, Dwarfism, and Renal Impairment 
impaired renal function disease +   
Infundibulopelvic Dysgenesis 
Insulin-Like Growth Factor I Deficiency  
Interstitial Lung Disease, Nephrotic Syndrome, and Epidermolysis Bullosa, Congenital  
Jejunal Atresia with Renal Adysplasia 
Johanson-Blizzard syndrome  
Joubert syndrome 5  
Joubert syndrome 6  
Joubert syndrome 9  
junctional epidermolysis bullosa +   
kidney cortex necrosis 
kidney failure +   
kidney hypertrophy 
Kidney Neoplasms +   
kidney papillary necrosis 
Kindler syndrome  
Lachiewicz Sibley Syndrome 
Lipoprotein Glomerulopathy  
Lymphedema-Distichiasis Syndrome with Renal Disease and Diabetes Mellitus  
Marshall Syndrome +   
MYH-9 related disease +   
nephritis +   
nephrocalcinosis +   
nephrolithiasis +   
nephronophthisis-like nephropathy 1  
Nephropathy Deafness Hyperparathyroidism 
Nephropathy with Pretibial Epidermolysis Bullosa and Deafness  
nephrosclerosis +   
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES  
Neuroendocrine Carcinoma of Salivary Glands, Sensorineural Hearing Loss, and Enamel Hypoplasia 
Nonsyndromic Sensorineural Hearing Loss  
obstructive nephropathy  
ocular albinism with sensorineural deafness  
Optic Atrophy, Deafness, Ophthalmoplegia, and Myopathy 
orthostatic proteinuria 
Otodental Dysplasia 
Otofacioosseous-Gonadal Syndrome 
otospondylomegaepiphyseal dysplasia  
Palmoplantar Keratoderma with Deafness  
Paragangliomas with Sensorineural Hearing Loss  
Pendred syndrome  
perinephritis 
Pfeiffer Kapferer Syndrome 
Pigmentary Retinopathy and Sensorineural Deafness  
Premature Atherosclerosis with Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, and Degenerative Neurologic Disease 
Presbycusis +   
Progressive Hearing Loss Stapes Fixation  
Progressive Nephropathy with Deafness 
proteinuria +   
Prune Belly Syndrome with Pulmonic Stenosis, Mental Retardation, and Deafness 
pyelitis +   
Radiation Nephropathy  
Radio Renal Syndrome 
renal agenesis +   
renal artery disease +   
renal artery obstruction +   
Renal Dysplasia - Limb Defects Syndrome 
renal fibrosis +   
renal hypertension +   
renal hypoplasia +   
renal infectious disease 
Renal Ischemia  
Renal Nutcracker Syndrome 
renal tuberculosis  
Renal Tubular Dysgenesis  
renal tubular transport disease +   
Renal Tubulopathy, Diabetes Mellitus, and Cerebellar Ataxia due to Duplication of Mitochondrial DNA 
Retinitis Pigmentosa Inversa with Deafness 
Robinson Miller Bensimon Syndrome 
Rod-Cone Dystrophy, Sensorineural Deafness, and Fanconi-Type Renal Dysfunction 
Schaap Taylor Baraitser Syndrome 
Selig Benacerraf Greene Syndrome 
Sensorineural Deafness and Male Infertility  
Sensorineural Deafness and Migraine  
Sensorineural Deafness with Hypertrophic Cardiomyopathy  
Sensorineural Deafness with Mild Renal Dysfunction  
Sensorineural Deafness with Peripheral Neuropathy and Arterial Disease 
Sensorineural Deafness, Autosomal-Mitochondrial Type  
Sensorineural Hearing Loss, Retinal Pigment Epithelium Lesions, Discolored Teeth 
Siegler Brewer Carey Syndrome 
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, and Progressive Nephropathy 
split hand-foot malformation 1 with sensorineural hearing loss  
Spondyloepiphyseal Dysplasia, Myopia, and Sensorineural Deafness 
stricture or kinking of ureter 
Sudden Hearing Loss  
thiamine-responsive megaloblastic anemia syndrome  
Thrombocytopenia with Elevated Serum Iga and Renal Disease 
Thyrocerebral-Retinal Syndrome 
Townes-Brocks syndrome +   
Treft Sanborn Carey Syndrome 
Tunglang Savage Bellman Syndrome 
uremia +   
Usher syndrome +   
uveal coloboma-cleft lip and palate-intellectual disability  
Vohwinkel syndrome  
Wolfram syndrome 2  
Wolfram syndrome, mitochondrial form 
X-linked nonsyndromic deafness +   
Zellweger syndrome +   

Synonyms
Primary IDs: MESH:C563798 ;   RDO:0012965
Alternate IDs: OMIM:609057

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.