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Term:
Joubert syndrome 6 (DOID:0111001)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
Joubert syndrome +     
kidney disease +     
46,XX Sex Reversal with Dysgenesis of Kidneys, Adrenals, and Lungs  
AIDS-Associated Nephropathy  
Alsing Syndrome 
anuria +   
Arnold Stickler Bourne Syndrome 
Athabaskan brainstem dysgenesis syndrome  
atheroembolism of kidney 
Autoimmune Interstitial Lung, Joint, and Kidney Disease  
Benign Childhood Paroxysmal Tonic Upgaze with Ataxia 
Bifid Nose with or without Anorectal And Renal Anomalies  
Blue Diaper Syndrome 
CAKUT1  
Christianson syndrome  
Complement Factor H Deficiency  
congenital fibrosis of the extraocular muscles +   
cystic kidney disease +   
diabetes insipidus +   
Diabetic Nephropathies  
Diffuse Lewy Body Disease with Gaze Palsy 
Dimauro Disease  
dioctophymiasis 
Duane retraction syndrome +   
familial juvenile hyperuricemic nephropathy +   
glaucomatous atrophy of optic disc 
Glomerular Diseases +   
Goodpasture syndrome +   
granulomatosis with polyangiitis +   
Hantavirus hemorrhagic fever with renal syndrome +   
Herrmann Syndrome 
Hydranencephaly with Renal Aplasia-Dysplasia  
hydronephrosis +   
Hyperoxaluria +   
hypophosphatemic nephrolithiasis/osteoporosis +   
Ichthyosis, Mental Retardation, Dwarfism, and Renal Impairment 
Infundibulopelvic Dysgenesis 
Jejunal Atresia with Renal Adysplasia 
Joubert syndrome 1  
Joubert syndrome 10  
Joubert Syndrome 12  
Joubert Syndrome 13  
Joubert syndrome 14  
Joubert syndrome 15  
Joubert Syndrome 16  
Joubert Syndrome 17  
Joubert Syndrome 18  
Joubert Syndrome 2  
Joubert syndrome 20  
Joubert syndrome 21  
Joubert Syndrome 22  
Joubert Syndrome 23  
Joubert syndrome 24  
Joubert Syndrome 25  
Joubert Syndrome 26  
Joubert Syndrome 27  
Joubert Syndrome 28  
Joubert syndrome 29 
Joubert syndrome 3  
Joubert syndrome 30  
Joubert syndrome 31  
Joubert syndrome 32  
Joubert syndrome 33  
JOUBERT SYNDROME 35  
Joubert Syndrome 36  
Joubert syndrome 4  
Joubert syndrome 5  
Joubert syndrome 6  
A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM67 on chromosome 8q22. (DO)
Joubert syndrome 7  
Joubert syndrome 8  
Joubert syndrome 9  
Joubert syndrome with orofaciodigital defect  
kidney cortex disease +  
kidney failure +   
kidney hypertrophy 
Kidney Neoplasms +   
kidney papillary necrosis 
Lachiewicz Sibley Syndrome 
Levator-Medial Rectus Synkinesis 
Lipoprotein Glomerulopathy  
Lymphedema-Distichiasis Syndrome with Renal Disease and Diabetes Mellitus  
Meckel Syndrome, Type 10  
Miller Fisher syndrome 
nephritis +   
nephrocalcinosis +   
nephrogenic diabetes insipidus +   
nephrolithiasis +   
nephronophthisis 12  
nephronophthisis 14  
nephronophthisis-like nephropathy 1  
Nephropathy with Pretibial Epidermolysis Bullosa and Deafness  
nephrosclerosis +   
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES  
obstructive nephropathy  
ophthalmoplegia +   
Opsoclonus-Myoclonus Syndrome +   
orthostatic proteinuria 
pathologic nystagmus +   
perinephritis 
Premature Atherosclerosis with Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, and Degenerative Neurologic Disease 
proteinuria +   
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 osteodystrophy  
renal tuberculosis  
Renal Tubular Dysgenesis  
renal tubular transport disease +   
Renal Tubulopathy, Diabetes Mellitus, and Cerebellar Ataxia due to Duplication of Mitochondrial DNA 
secondary hyperparathyroidism of renal origin 
Selig Benacerraf Greene Syndrome 
Setting-Sun Phenomenon, Familial Benign 
Siegler Brewer Carey Syndrome 
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, and Progressive Nephropathy 
strabismus +   
stricture or kinking of ureter 
third cranial nerve disease +   
Thrombocytopenia with Elevated Serum Iga and Renal Disease 
Thyrocerebral-Retinal Syndrome 
Tolosa-Hunt syndrome +  
Tukel Syndrome 
uremia +   
Webb-Dattani Syndrome  
Zellweger syndrome +   

Synonyms
Exact Synonyms: JBTS6
Primary IDs: MESH:C537689 ;   RDO:0003571
Alternate IDs: OMIM:610688
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/17160906 "DO"

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