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Term:
Joubert syndrome 5 (DOID:0111000)
Annotations: Rat: (2) Mouse: (2) Human: (2) Chinchilla: (2) Bonobo: (2) Dog: (2) Squirrel: (2) Pig: (2)
Parent Terms Term With Siblings Child Terms
Joubert syndrome +     
kidney disease +     
Muscle Hypotonia +     
3-M syndrome +   
46,XX Sex Reversal with Dysgenesis of Kidneys, Adrenals, and Lungs  
AIDS-Associated Nephropathy  
Al-Raqad Syndrome  
Alazami-Yuan Syndrome  
Allan-Herndon-Dudley syndrome  
Alsing Syndrome 
anuria +   
Arnold Stickler Bourne Syndrome 
Athabaskan brainstem dysgenesis syndrome  
atheroembolism of kidney 
Atonic-Astatic Syndrome of Foerster 
Autoimmune Interstitial Lung, Joint, and Kidney Disease  
autosomal dominant mental retardation 20  
Benign Childhood Paroxysmal Tonic Upgaze with Ataxia 
Bifid Nose with or without Anorectal And Renal Anomalies  
Birk-Barel syndrome  
Blue Diaper Syndrome 
CAKUT1  
Carnitine Acetyltransferase Deficiency  
Christianson syndrome  
Cohen syndrome  
combined oxidative phosphorylation deficiency 3  
Complement Factor H Deficiency  
CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY  
congenital fibrosis of the extraocular muscles +   
Congenital Hydronephrosis, with Cleft Palate, Characteristic Facies, Hypotonia, and Mental Retardation 
Congenital Hypotonia, Epilepsy, Developmental Delay, and Digital Anomalies  
cystic kidney disease +   
De Hauwere syndrome 
Der Kaloustian Mcintosh Silver Syndrome 
Desanto-Shinawi Syndrome  
diabetes insipidus +   
Diabetic Nephropathies  
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2  
Diffuse Lewy Body Disease with Gaze Palsy 
Dimauro Disease  
dioctophymiasis 
Duane retraction syndrome +   
Emanuel Syndrome 
Ethanolaminosis 
familial juvenile hyperuricemic nephropathy +   
FG syndrome +   
fumarase deficiency  
German Syndrome 
glaucomatous atrophy of optic disc 
Glomerular Diseases +   
glycogen storage disease IX +   
Goodpasture syndrome +   
granulomatosis with polyangiitis +   
GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY  
Grubben de Cock Borghgraef Syndrome 
Hantavirus hemorrhagic fever with renal syndrome +   
Herrmann Syndrome 
Hydranencephaly with Renal Aplasia-Dysplasia  
hydronephrosis +   
Hyperoxaluria +   
hypophosphatemic nephrolithiasis/osteoporosis +   
HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME  
HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME  
Hypotonia, Congenital Nystagmus, Ataxia and Abnormal Auditory Brainstem Response 
Hypotonia, Seizures, and Precocious Puberty 
hypotonia-cystinuria syndrome  
Ichthyosis, Mental Retardation, Dwarfism, and Renal Impairment 
Infantile Hypotonia with Psychomotor Retardation +   
Infra-Auricular Cutaneous Creases with Tall Stature and Advanced Bone Age 
Infundibulopelvic Dysgenesis 
INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES  
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  
A Joubert syndrome that has_material_basis_in mutation in the CEP290 gene on chromosome 12q21. (DO)
Joubert syndrome 6  
Joubert syndrome 7  
Joubert syndrome 8  
Joubert syndrome 9  
Joubert syndrome with orofaciodigital defect  
Ketoadipicaciduria 
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  
Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia 
Miller Fisher syndrome 
multiple congenital anomalies-hypotonia-seizures 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 BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA  
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND AUTISTIC FEATURES WITH OR WITHOUT HYPERKINETIC MOVEMENTS  
Neurodevelopmental Disorder with Hypotonia and Cerebellar Atrophy, with or without Seizures  
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES  
Neurodevelopmental Disorder with Hypotonia, Microcephaly, and Seizures   
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE  
Neurodevelopmental Disorder with Impaired Intellectual Development, Hypotonia, and Ataxia   
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CATARACTS, AND RENAL ABNORMALITIES  
NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES  
obstructive nephropathy  
ophthalmoplegia +   
Opsoclonus-Myoclonus Syndrome +   
orthostatic proteinuria 
Osteosclerotic Metaphyseal Dysplasia  
pathologic nystagmus +   
perinephritis 
PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL  
Premature Atherosclerosis with Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, and Degenerative Neurologic Disease 
Progressive Encephalopathy with Amyotrophy and Optic Atrophy  
proteinuria +   
pyelitis +   
Qazi Markouizos syndrome 
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 
scalp-ear-nipple syndrome  
secondary hyperparathyroidism of renal origin 
Selig Benacerraf Greene Syndrome 
Setting-Sun Phenomenon, Familial Benign 
Siegler Brewer Carey Syndrome 
Snijders Blok-Fisher Syndrome  
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, and Progressive Nephropathy 
SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE  
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 
Unilateral Radioulnar Synostosis with Developmental Retardation and Hypotonia 
uremia +   
Webb-Dattani Syndrome  
Zellweger syndrome +   

Synonyms
Exact Synonyms: JBTS5
Primary IDs: MESH:C537688
Alternate IDs: OMIM:610188 ;   RDO:0003570
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/16682973 "DO"

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