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Term:
Joubert syndrome 3 (DOID:0110998)
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 +     
Muscle Hypotonia +     
3-M syndrome +   
Al-Raqad Syndrome  
Alazami-Yuan Syndrome  
Allan-Herndon-Dudley syndrome  
Athabaskan brainstem dysgenesis syndrome  
Atonic-Astatic Syndrome of Foerster 
autosomal dominant mental retardation 20  
Benign Childhood Paroxysmal Tonic Upgaze with Ataxia 
Birk-Barel syndrome  
Carnitine Acetyltransferase Deficiency  
Christianson syndrome  
Cohen syndrome  
combined oxidative phosphorylation deficiency 3  
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  
De Hauwere syndrome 
Der Kaloustian Mcintosh Silver Syndrome 
Desanto-Shinawi Syndrome  
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2  
Diffuse Lewy Body Disease with Gaze Palsy 
Duane retraction syndrome +   
Emanuel Syndrome 
Ethanolaminosis 
FG syndrome +   
fumarase deficiency  
German Syndrome 
glaucomatous atrophy of optic disc 
glycogen storage disease IX +   
GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY  
Grubben de Cock Borghgraef Syndrome 
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  
Infantile Hypotonia with Psychomotor Retardation +   
Infra-Auricular Cutaneous Creases with Tall Stature and Advanced Bone Age 
INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES  
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  
A Joubert syndrome that has_material_basis_in homozygous mutation in the AHI1 gene on chromosome 6q23.3. (DO)
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  
Joubert syndrome 7  
Joubert syndrome 8  
Joubert syndrome 9  
Joubert syndrome with orofaciodigital defect  
Ketoadipicaciduria 
Levator-Medial Rectus Synkinesis 
Meckel Syndrome, Type 10  
Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia 
Miller Fisher syndrome 
multiple congenital anomalies-hypotonia-seizures syndrome +   
nephronophthisis 12  
nephronophthisis 14  
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, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES  
ophthalmoplegia +   
Opsoclonus-Myoclonus Syndrome +   
Osteosclerotic Metaphyseal Dysplasia  
pathologic nystagmus +   
PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL  
Progressive Encephalopathy with Amyotrophy and Optic Atrophy  
Qazi Markouizos syndrome 
scalp-ear-nipple syndrome  
Setting-Sun Phenomenon, Familial Benign 
Snijders Blok-Fisher Syndrome  
SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE  
strabismus +   
third cranial nerve disease +   
Tolosa-Hunt syndrome +  
Tukel Syndrome 
Unilateral Radioulnar Synostosis with Developmental Retardation and Hypotonia 

Synonyms
Exact Synonyms: JBTS3
Primary IDs: MESH:C536295
Alternate IDs: OMIM:608629 ;   RDO:0001820
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/15322546 "DO"

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