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Ontology Browser
Term:
Parent Terms Term With Siblings Child Terms
cystic kidney disease +     
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 
Autosomal Dominant Tubulointerstitial Kidney Disease 1  
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  
Developmental Delay, Language Impairment, and Ocular Abnormalities  
diffuse cystic renal dysplasia  
Duane-radial ray syndrome  
Dwarfism Stiff Joint Ocular Abnormalities 
Ectopia Lentis +   
Egg-Shaped Pupil 
exudative vitreoretinopathy +   
FACES Syndrome 
foveal hypoplasia 2  
Fronto-Facio-Nasal Dysplasia 
Frontoocular Syndrome 
Goniodysgenesis-Mental Retardation-Short Stature Syndrome 
hydrophthalmos +   
intellectual developmental disorder with ocular anomalies and distinctive facial features  
iridogoniodysgenesis syndrome +   
Joubert syndrome 1  
A Joubert syndrome that has_material_basis_in homozygous mutation in the INPP5E gene on chromosome 9q34. (DO)
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 37  
Joubert Syndrome 38  
Joubert Syndrome 39  
Joubert syndrome 4  
Joubert Syndrome 40  
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 10  
Meckel Syndrome 12  
Medullary Sponge Kidney +   
Microcornea, Glaucoma, and Absent Frontal Sinuses 
Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus  
microphthalmia +   
MOMES Syndrome 
Multicystic Dysplastic Kidney +   
MYELOFIBROSIS, CONGENITAL, WITH ANEMIA, NEUTROPENIA, DEVELOPMENTAL DELAY, AND  
nephronophthisis +   
nephronophthisis 12  
nephronophthisis 14  
Nephrotic Syndrome with Ocular Anomalies 
neurodevelopmental disorder with eye movement abnormalities and ataxia  
NEURODEVELOPMENTAL DISORDER WITH INTENTION TREMOR, PYRAMIDAL SIGNS, DYSPRAXIA, AND OCULAR ANOMALIES  
Neurodevelopmental Disorder with or without Anomalies of the Brain, Eye, or Heart  
NEURODEVELOPMENTAL DISORDER WITH SPEECH DELAY AND VARIABLE OCULAR ANOMALIES  
NEUROOCULAR SYNDROME 1  
NEUROOCULAR SYNDROME 2, PAROXYSMAL TYPE  
non-congenital cyst of kidney 
oblique facial clefting 1  
oculoauricular syndrome  
Oculoauriculofrontonasal Syndrome 
Oculocerebrocutaneous Syndrome 
oculodentodigital dysplasia +   
OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME  
Oculopalatocerebral Syndrome 
Oculorenocerebellar Syndrome 
Pena Shokeir Syndrome Type 2 
Persistence of Pupillary Membrane 
persistent hyperplastic primary vitreous +   
PHACE Association  
Pierson syndrome  
polycystic kidney disease +   
popliteal pterygium syndrome +   
Prepapillary Vascular Loops 
renal-hepatic-pancreatic dysplasia +   
Retinal Dysplasia +   
Rozin Hertz Goodman Syndrome 
Schmid-Fraccaro Syndrome  
Senior-Loken syndrome +   
SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES  
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: CORS1 ;   CPD4 ;   Cerebello-Oculo-Renal Syndrome ;   Cerebellooculorenal syndrome 1 ;   Cerebelloparenchymal disorder 4 ;   JBTS1 ;   Joubert-Boltshauser syndrome ;   agenesis of cerebellar vermis ;   cerebellar vermis agenesis ;   cerebelloparenchymal disorder IV
Broad Synonyms: INPP5E-RELATED CONDITION
Primary IDs: MESH:C536293
Alternate IDs: MIM:213300
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/19668216 "DO" "DO"

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