Ontology Browser

Term:
Parent Terms Term With Siblings Child Terms
fundus dystrophy +     
achromatopsia 4  
Achromatopsia 5  
Acrootoocular Syndrome 
Aicardi syndrome 
Alacrima +   
Albinism +   
aniridia +   
ataxia with oculomotor apraxia type 3  
Ataxia-Microcephaly-Cataract Syndrome 
Ataxia-Oculomotor Apraxia 4  
basal laminar drusen  
bestrophinopathy  
Bietti crystalline corneoretinal dystrophy  
Bothnia retinal dystrophy  
bradyopsia  
cataract 17 multiple types  
cataract 22 multiple types  
cataract 35 
Cataract, Floriform 
Cataract, Pulverulent 
Cavitary Optic Disc Anomalies  
Cholestasis with Gallstone, Ataxia, and Visual Disturbance 
Chorioretinal Dystrophy, Spinocerebellar Ataxia, and Hypogonadotropic Hypogonadism  
Choroideremia +   
cone-rod dystrophy +   
Congenital Alacrima +   
Congenital Fibrosis of Extraocular Muscles, 2  
Congenital Fibrosis of Extraocular Muscles, 3A, with or without Extraocular Involvement  
Congenital Fibrosis of Extraocular Muscles, 3B  
Congenital Fibrosis of Extraocular Muscles, 3C 
Congenital Fibrosis of Extraocular Muscles, 5  
Congenital Mydriasis +   
Cornea Plana 1 
Cornea Plana 2  
corneal dystrophy +   
dominant pericentral pigmentary retinopathy 
Duane retraction syndrome +   
dystrophies primarily involving the retinal pigment epithelium +   
Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration 
enhanced S-cone syndrome  
Fleck Retina, Familial Benign  
Foveal Hypoplasia with Anterior Segment Anomalies  
fundus albipunctatus  
fundus dystrophy +   
Ghose Sachdev Kumar Syndrome 
Glaucoma 1, Open Angle, P  
Graves Ophthalmopathy  
Grouped Pigmentation of the Macula 
gyrate atrophy +   
hereditary night blindness +   
Hereditary Optic Atrophies +   
hereditary retinal dystrophy +   
hereditary spastic paraplegia 15  
high hyperopia  
Histiocytic Dermatoarthritis 
Hyaloideoretinal Degeneration of Wagner  
infantile cerebellar-retinal degeneration  
Iris Pigment Epithelium Anomalies 
Isolated Foveal Hypoplasia 
Joubert syndrome 4  
Joubert syndrome 8  
late-onset retinal degeneration  
Lattice Degeneration of Retina Leading to Retinal Detachment 
Leber congenital amaurosis +   
MacKay Shek Carr Syndrome 
macular degeneration +   
Macular Dystrophy, X-Linked +   
megalocornea +   
Microcephaly and Chorioretinopathy +   
Microphthalmia with Hyperopia, Retinal Degeneration, Macrophakia, and Dental Anomalies 
Myopia, High, with Cataract and Vitreoretinal Degeneration  
Noble Bass Sherman Syndrome 
Omphalocele, Diaphragmatic Hernia, and Radial Ray Defects 
Ophthalmomandibulomelic Dysplasia 
Peripapillary Atrophy, Beta Type 
peripheral retinal degeneration +  
Persistent Hyperplastic Primary Vitreous, Autosomal Dominant 
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive  
Pigmented Paravenous Chorioretinal Atrophy  
PORETTI-BOLTSHAUSER SYNDROME  
primary congenital glaucoma +   
pseudopapilledema 
Radial Drusen, Autosomal Dominant 
renal hypomagnesemia 5 with ocular involvement  
Reticular Dystrophy of Retinal Pigment Epithelium 
Reticular Pigmentary Retinal Dystrophy of Posterior Pole 
Retinal Aplasia 
Retinal Cone Dystrophy 1 
Retinal Degeneration and Epilepsy 
Retinal Degeneration, Autosomal Recessive, Clumped Pigment Type  
retinal drusen +   
Retinal Dysplasia +   
retinal dystrophies primarily involving Bruch's membrane 
RETINAL DYSTROPHY AND IRIS COLOBOMA WITH OR WITHOUT CONGENITAL CATARACT  
Retinal Dystrophy and Obesity  
retinal dystrophy in systemic or cerebroretinal lipidoses 
RETINAL DYSTROPHY WITH INNER RETINAL DYSFUNCTION AND GANGLION CELL ABNORMALITIES  
RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES  
RETINAL DYSTROPHY WITH OR WITHOUT MACULAR STAPHYLOMA  
Retinal Dystrophy, Early Onset Severe  
Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome  
Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome  
retinitis pigmentosa +   
Hereditary, progressive degeneration of the retina due to death of ROD PHOTORECEPTORS initially and subsequent death of CONE PHOTORECEPTORS. It is characterized by deposition of pigment in the retina.
Retinohepatoendocrinologic Syndrome 
retinoschisis +   
Rhegmatogenous Retinal Detachment, Autosomal Dominant  
Senior-Loken Syndrome 7  
Snowflake Vitreoretinal Degeneration  
Spondyloocular Syndrome, Autosomal Recessive  
Stickler Syndrome, Type I, Nonsyndromic Ocular  
Sveinsson Chorioretinal Atrophy  
Vascular Hyalinosis 
vitelliform macular dystrophy +   
vitreoretinal dystrophy 
Vitreoretinochoroidopathy  
Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia  
Walker-Warburg syndrome +   
Weill-Marchesani syndrome +   
 Usher syndrome +   

Synonyms
Exact Synonyms: Cone Rod Dystrophy ;   Pigmentary Retinopathies ;   Pigmentary Retinopathy ;   RP ;   cone-rod dystrophies ;   pericentral pigmentary retinopathy ;   tapetoretinal degeneration ;   tapetoretinal degenerations
Narrow Synonyms: CONE-ROD DYSTROPHY, DOMINANT ;   CONE-ROD DYSTROPHY, RECESSIVE ;   Progressive retinal atrophy, type 3 ;   RETINITIS PIGMENTOSA, DOMINANT ;   RETINITIS PIGMENTOSA, DOMINANT/RECESSIVE ;   RETINITIS PIGMENTOSA, RECESSIVE ;   Syndromic RP ;   Syndromic Retinitis Pigmentosa ;   autosomal dominant retinitis pigmentosa ;   autosomal recessive retinitis pigmentosa
Primary IDs: MESH:D012174 ;   RDO:0000589
Alternate IDs: OMIA:001455 ;   OMIA:001918 ;   OMIM:268000
Xrefs: GARD:5694 ;   OMIM:PS268000 ;   ORDO:791
Definition Sources: MESH:D012174, http://en.wikipedia.org/wiki/Retinitis_pigmentosa, http://ghr.nlm.nih.gov/condition/retinitis-pigmentosa, http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4043609/

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