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Ontology Browser

Term:
Joubert syndrome 4 (DOID:0110999)
Annotations: Rat: (3) Mouse: (3) Human: (3) Chinchilla: (3) Bonobo: (3) Dog: (3) Squirrel: (2) Pig: (3)
Parent Terms Term With Siblings Child Terms
Joubert syndrome +     
angioid streaks of choroid 
Baraitser Rodeck Garner syndrome 
Bietti crystalline corneoretinal dystrophy  
Brachymesomelia Renal Syndrome 
Cerebrorenodigital Syndrome with Limb Malformations and Triradiate Acetabula 
Choroideremia +   
diffuse cystic renal dysplasia  
Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration 
enhanced S-cone syndrome  
fundus dystrophy +   
Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria  
hereditary spastic paraplegia 15  
High Myopia with Cataract and Vitreoretinal Degeneration  
Hyaloideoretinal Degeneration of Wagner  
infantile cerebellar-retinal degeneration  
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  
A Joubert syndrome that has_material_basis_in deletions of the NPHP1 gene on chromosome 2q13. (DO)
Joubert syndrome 5  
Joubert syndrome 6  
Joubert syndrome 7  
Joubert syndrome 8  
Joubert syndrome 9  
Joubert syndrome with orofaciodigital defect  
late-onset retinal degeneration  
Lattice Degeneration of Retina Leading to Retinal Detachment 
MacKay Shek Carr Syndrome 
macular degeneration +   
maturity-onset diabetes of the young type 5  
Meckel Syndrome, Type 10  
Meckel Syndrome, Type 12  
Medullary Sponge Kidney +   
Microphthalmia with Hyperopia, Retinal Degeneration, Macrophakia, and Dental Anomalies 
Multicystic Dysplastic Kidney +   
nephronophthisis +   
nephronophthisis 12  
nephronophthisis 14  
Noble Bass Sherman Syndrome 
non-congenital cyst of kidney 
peripheral retinal degeneration +  
pigmented paravenous chorioretinal atrophy  
polycystic kidney disease +   
Renal TSC2 Angiomyolipomas, Modifier of 
renal-hepatic-pancreatic dysplasia +   
Retinal Cone Dystrophy 1 
Retinal Degeneration and Epilepsy 
Retinal Degeneration, Autosomal Recessive, Clumped Pigment Type  
retinal drusen +   
retinitis pigmentosa +   
retinoschisis +   
Senior-Loken syndrome +   
Senior-Loken Syndrome 7  
Situs Inversus Totalis with Cystic Dysplasia of Kidneys and Pancreas 
snowflake vitreoretinal degeneration  
Sveinsson chorioretinal atrophy  
Ulnar Ray Dysgenesis with Postaxial Polydactyly and Renal Cystic Dysplasia 
ventriculomegaly - cystic kidney disease  

Synonyms
Exact Synonyms: JBTS4
Primary IDs: MESH:C536296
Alternate IDs: OMIM:609583 ;   RDO:0001822
Xrefs: GARD:10169
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/15138899 "DO"

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