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Ontology Browser

Term:
Joubert Syndrome 2 (DOID:0110988)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
Eye Abnormalities +     
Joubert syndrome +     
3MC syndrome 1  
ablepharon macrostomia syndrome  
aniridia +   
Ankyloblepharon Filiforme Adnatum  
ankyloblepharon-ectodermal defects-cleft lip/palate syndrome  
Anophthalmia +   
anterior segment dysgenesis +   
Asymmetric Short Stature Syndrome 
Axenfeld-Rieger syndrome +   
Baraitser Rodeck Garner syndrome 
Basel-Vanagaite-Smirin-Yosef syndrome  
blepharophimosis +   
Blue Diaper Syndrome 
Brachymesomelia Renal Syndrome 
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism 
Brittle Cornea Syndrome +   
Cerebrorenodigital Syndrome with Limb Malformations and Triradiate Acetabula 
Chemke Oliver Mallek Syndrome 
Choroidal Effusions +  
chromosome 6pter-p24 deletion syndrome 
CODAS syndrome  
Cole-Carpenter syndrome +   
coloboma +   
Colobomatous Macrophthalmia with Microcornea 
Congenital Nephrotic Syndrome with or without Ocular Abnormalities +   
Craniofacial Anomalies and Anterior Segment Dysgenesis Syndrome  
Craniosynostosis with Ocular Abnormalities and Hallucal Defects 
cryptophthalmia +   
De Hauwere syndrome 
Desanto-Shinawi Syndrome  
diffuse cystic renal dysplasia  
Diffuse Renal Mesangial Sclerosis, with Ocular Abnormalities 
Dwarfism Stiff Joint Ocular Abnormalities 
Ectopia Lentis +   
Egg-Shaped Pupil 
exudative vitreoretinopathy +   
FACES Syndrome 
Foveal Hypoplasia and Anterior Segment Dysgenesis  
Fronto-Facio-Nasal Dysplasia 
Frontoocular Syndrome 
Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria  
Goniodysgenesis-Mental Retardation-Short Stature Syndrome 
hydrophthalmos +   
iridogoniodysgenesis syndrome +   
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  
A Joubert syndrome characterized by molar tooth sign on brain MRI, hypotonia, developmental delay, oculomotor apraxia, and breathing abnormalities that has_material_basis_in mutation in the TMEM216 gene on chromosome 11q12.2. (DO)
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  
Joubert syndrome 7  
Joubert syndrome 8  
Joubert syndrome 9  
Joubert syndrome with orofaciodigital defect  
Kapur Toriello Syndrome 
maturity-onset diabetes of the young type 5  
Maxillofacial Dysostosis 
Meckel Syndrome, Type 10  
Meckel Syndrome, Type 12  
Medullary Sponge Kidney +   
Microcornea, Glaucoma, and Absent Frontal Sinuses 
Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus  
microphthalmia +   
MOMES Syndrome 
Multicystic Dysplastic Kidney +   
nephronophthisis +   
nephronophthisis 12  
nephronophthisis 14  
Nephrotic Syndrome with Ocular Anomalies 
Neurodevelopmental Disorder with or without Anomalies of the Brain, Eye, or Heart  
non-congenital cyst of kidney 
oblique facial clefting 1  
oculoauricular syndrome  
Oculoauriculofrontonasal Syndrome 
Oculocerebrocutaneous Syndrome 
oculodentodigital dysplasia +   
Oculopalatocerebral Syndrome 
Oculorenocerebellar Syndrome 
Pena Shokeir Syndrome Type 2 
persistent hyperplastic primary vitreous +   
PHACE Association  
Pierson syndrome  
polycystic kidney disease +   
popliteal pterygium syndrome +   
Prepapillary Vascular Loops 
Pupillary Membrane, Persistence of 
Renal TSC2 Angiomyolipomas, Modifier of 
renal-hepatic-pancreatic dysplasia +   
Retinal Dysplasia +   
Rozin Hertz Goodman Syndrome 
Schmid-Fraccaro Syndrome  
Senior-Loken syndrome +   
Situs Inversus Totalis with Cystic Dysplasia of Kidneys and Pancreas 
Stromme syndrome  
torsion dystonia with onset in infancy  
Ulnar Ray Dysgenesis with Postaxial Polydactyly and Renal Cystic Dysplasia 
ventriculomegaly - cystic kidney disease  

Synonyms
Exact Synonyms: CORS2 ;   Cerebellooculorenal syndrome 2 ;   JBTS2
Primary IDs: MESH:C536294
Alternate IDs: OMIM:608091 ;   RDO:0001819
Xrefs: GARD:10167
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/20036350 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9373798 "DO"

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