Rod-cone dystrophy

Symptom Information:

Symptom ID: HPO:0000510
Synonyms:
Retinitis pigmentosa (disorder) [Orphanet:5300]
Retinitis Pigmentosa [Orphanet:5300]
Retinitis pigmentosa [OMIM:Retinitis pigmentosa]
Retinitis pigmentosa/retinal pigmentary changes [Orphanet:5300]
Retinitis pigmentosa [Orphanet:5300]
Retinitis pigmentosa [MedDRA:10038914]
Pigmented retinopathy NOS [MedDRA:10038914]
Retinitis pigmentosa (in some patients) [OMIM:Retinitis pigmentosa (in some patients)]
Retinitis pigmentosa (late-onset) [OMIM:Retinitis pigmentosa (late-onset)]
Retinitis pigmentosa (onset in infancy to early childhood) [OMIM:Retinitis pigmentosa (onset in infancy to early childhood)]
Retinitis pigmentosa (rare) [OMIM:Retinitis pigmentosa (rare)]
Quality:
Cross references:
Orphanet:5300 "Retinitis pigmentosa/retinal pigmentary changes" [Orphanet:5300]
OMIM: "Retinitis pigmentosa" [OMIM:Retinitis pigmentosa]
OMIM: "Retinitis pigmentosa (in some patients)" [OMIM:Retinitis pigmentosa (in some patients)]
OMIM: "Retinitis pigmentosa (late-onset)" [OMIM:Retinitis pigmentosa (late-onset)]
OMIM: "Retinitis pigmentosa (onset in infancy to early childhood)" [OMIM:Retinitis pigmentosa (onset in infancy to early childhood)]
OMIM: "Retinitis pigmentosa (rare)" [OMIM:Retinitis pigmentosa (rare)]
UMLS:C0035334 "Retinitis Pigmentosa" [Orphanet:5300]
Is a (Direct Parents):
HPO         Abnormality of retinal pigmentation
MedDRA Retinal structural change, deposit and degeneration
Orphanet Retinopathy
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of the eye(HPO:0000478)
          Abnormal eye morphology(HPO:0012372)
             Abnormality of the globe(HPO:0012374)
                Abnormality of the posterior segment of the globe(HPO:0004329)
                   Abnormality of the fundus(HPO:0001098)
                      Abnormality of the retina(HPO:0000479)
                         obsolete Abnormality of the retinal pigment epithelium(HPO:0008051)
                            Abnormality of retinal pigmentation(HPO:0007703)
                               Rod-cone dystrophy(HPO:0000510)
MedDRA:
Eye disorders(MedDRA:10015919)
    Ocular structural change, deposit and degeneration NEC(MedDRA:10042261)
       Retinal structural change, deposit and degeneration(MedDRA:10038896)
          Rod-cone dystrophy(HPO:0000510)
Database Frequency: 266 / 7739
Resource:

All diseases associated with this symptom:

3-methylglutaconic aciduria type 4 (Orphanet:67048)
8q21.11 microdeletion syndrome (Orphanet:284160)
Abetalipoproteinemia (Orphanet:14)
Adult-onset foveomacular vitelliform dystrophy (Orphanet:99000)
Aicardi syndrome (Orphanet:50)
Alström syndrome (Orphanet:64)
Aplasia cutis - myopia (Orphanet:1117)
Ataxia - hypogonadism - choroidal dystrophy (Orphanet:1180)
Ataxia - tapetoretinal degeneration (Orphanet:1178)
Ataxia with vitamin E deficiency (Orphanet:96)
Auriculoocular anomalies - cleft lip (Orphanet:71270)
Autosomal dominant cerebellar ataxia (Orphanet:99)
Autosomal dominant vitreoretinochoroidopathy (Orphanet:3086)
Autosomal recessive Stickler syndrome (Orphanet:250984)
Autosomal recessive chorioretinopathy-microcephaly (Orphanet:2518)
Autosomal recessive medullary cystic kidney disease (Orphanet:655)
Axial spondylometaphyseal dysplasia (Orphanet:168549)
Bardet-Biedl syndrome (Orphanet:110)
Bardet-Biedl syndrome 1 (OMIM:209900 )
Bardet-Biedl syndrome 10 (OMIM:615987)
Bardet-Biedl syndrome 11 (OMIM:615988)
Bardet-Biedl syndrome 12 (OMIM:615989)
Bardet-Biedl syndrome 13 (OMIM:615990)
Bardet-Biedl syndrome 14 (OMIM:615991)
Bardet-Biedl syndrome 17 (OMIM:615994)
Bardet-Biedl syndrome 18 (OMIM:615995)
Bardet-Biedl syndrome 19 (OMIM:615996)
Bardet-Biedl syndrome 2 (OMIM:615981)
Bardet-Biedl syndrome 3 (OMIM:600151)
Bardet-Biedl syndrome 4 (OMIM:615982)
Bardet-Biedl syndrome 5 (OMIM:615983)
Bardet-Biedl syndrome 6 (OMIM:605231)
Bardet-Biedl syndrome 7 (OMIM:615984)
Bardet-Biedl syndrome 8 (OMIM:615985)
Bardet-Biedl syndrome 9 (OMIM:615986)
Biotinidase deficiency (Orphanet:79241)
Birt-Hogg-Dube syndrome (Orphanet:122)
Blepharoptosis - myopia - ectopia lentis (Orphanet:1259)
Blue cone monochromatism (Orphanet:16)
CLN10 disease (Orphanet:228337)
CLN3 disease (Orphanet:228346)
CLN9 disease (Orphanet:228357)
COENZYME Q10 DEFICIENCY, PRIMARY, 1 (OMIM:607426)
COFS syndrome (Orphanet:1466)
CONE-ROD DYSTROPHY 10 (OMIM:610283)
CONE-ROD DYSTROPHY 15 (OMIM:613660)
CONE-ROD DYSTROPHY 16 (OMIM:614500)
CUTIS VERTICIS GYRATA, RETINITIS PIGMENTOSA, AND SENSORINEURAL DEAFNESS (OMIM:605685)
Canavan disease (Orphanet:141)
Cartilage-hair hypoplasia (Orphanet:175)
Cerebellar ataxia - hypogonadism (Orphanet:1173)
Cerebellar hypoplasia - tapetoretinal degeneration (Orphanet:2246)
Cholestasis - pigmentary retinopathy - cleft palate (Orphanet:1415)
Choroidal atrophy - alopecia (Orphanet:1433)
Choroideremia (Orphanet:180)
Choroideremia - hypopituitarism (Orphanet:1434)
Classical homocystinuria (Orphanet:394)
Cleft lip - retinopathy (Orphanet:1995)
Cockayne syndrome (Orphanet:191)
Coffin-Lowry syndrome (Orphanet:192)
Cohen syndrome (Orphanet:193)
Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome (Orphanet:363741)
Cone rod dystrophy (Orphanet:1872)
Congenital bile acid synthesis defect type 4 (Orphanet:79095)
Congenital disorder of glycosylation (Orphanet:137)
Congenital neuronal ceroid lipofuscinosis (Orphanet:168486)
Congenital rubella syndrome (Orphanet:290)
Congenital toxoplasmosis (Orphanet:858)
Corneal anesthesia - deafness - intellectual deficit (Orphanet:1051)
Corpus callosum agenesis - neuronopathy (Orphanet:1496)
Cranioectodermal dysplasia 4 (OMIM:614378)
Cutis laxa (Orphanet:209)
DEAFNESS, AUTOSOMAL RECESSIVE 37 (OMIM:607821)
DEAFNESS, CATARACT, RETINITIS PIGMENTOSA, AND SPERM ABNORMALITIES (OMIM:300719)
Desmoid tumor (Orphanet:873)
Diprosopia (Orphanet:1681)
EEM syndrome (Orphanet:1897)
Ectopia lentis - chorioretinal dystrophy - myopia (Orphanet:1884)
FACES syndrome (Orphanet:1969)
Familial hypomagnesemia - hypercalciuria - nephrocalcinosis - severe ocular involvement (Orphanet:2196)
Familial or sporadic hemiplegic migraine (Orphanet:569)
Flynn-Aird syndrome (Orphanet:2047)
HYPOBETALIPOPROTEINEMIA, FAMILIAL, 1 (OMIM:615558)
HYPOPREBETALIPOPROTEINEMIA, ACANTHOCYTOSIS, RETINITIS PIGMENTOSA,AND PALLIDAL DEGENERATION (OMIM:607236)
Holoprosencephaly - craniosynostosis (Orphanet:2163)
Hyperimmunoglobulinemia D with periodic fever (Orphanet:343)
Hypogonadotropic hypogonadism - retinitis pigmentosa (Orphanet:2235)
Hypoparathyroidism - deafness - renal disease (Orphanet:2237)
ICHTHYOSIS AND MALE HYPOGONADISMRUD SYNDROME, INCLUDED (OMIM:308200)
Infantile Refsum disease (Orphanet:772)
Isolated CoQ-cytochrome C reductase deficiency (Orphanet:1460)
Jalili syndrome (Orphanet:1873)
Jeune syndrome (Orphanet:474)
Joubert syndrome 10 (OMIM:300804)
Joubert syndrome 9 (OMIM:612285)
Juvenile Paget disease (Orphanet:2801)
Juvenile neuronal ceroid lipofuscinosis (Orphanet:79264)
Karsch-Neugebauer syndrome (Orphanet:2329)
Kearns-Sayre syndrome (Orphanet:480)
Late-onset retinal degeneration (Orphanet:67042)
Leber congenital amaurosis (Orphanet:65)
Leber congenital amaurosis 14 (OMIM:613341)
Leber congenital amaurosis 15 (OMIM:613843)
Leigh syndrome (Orphanet:506)
Lowry-Wood syndrome (Orphanet:1824)
MELAS (Orphanet:550)
McKusick-Kaufman syndrome (Orphanet:2473)
Metaphyseal chondrodysplasia - retinitis pigmentosa (Orphanet:166035)
Micro syndrome (Orphanet:2510)
Microcephaly - cleft palate (Orphanet:2521)
Microcephaly - lymphedema - chorioretinopathy (Orphanet:2526)
Microcephaly-cardiomyopathy syndrome (Orphanet:2515)
Microcornea - corectopia - macular hypoplasia (Orphanet:2535)
Microphthalmia - retinitis pigmentosa - foveoschisis - optic disc drusen (Orphanet:251279)
Microphthalmia with linear skin defects syndrome (Orphanet:2556)
Mild Canavan disease (Orphanet:314918)
Morning glory syndrome (Orphanet:35737)
Mucolipidosis type 4 (Orphanet:578)
Mucopolysaccharidosis type 2 (Orphanet:580)
Multiple non-ossifying fibromatosis (Orphanet:2029)
Multiple sulfatase deficiency (Orphanet:585)
Muscular atrophy - ataxia - retinitis pigmentosa - diabetes mellitus (Orphanet:2579)
NARP syndrome (Orphanet:644)
Nanophthalmia (Orphanet:35612)
Neonatal adrenoleukodystrophy (Orphanet:44)
Nephronophthisis 2 (OMIM:602088)
Nephronophthisis 3 (OMIM:604387)
Neurocutaneous melanocytosis (Orphanet:2481)
Neutral lipid storage disease (Orphanet:165)
Night blindness - skeletal anomalies - dysmorphism (Orphanet:1390)
Oculo-reno-cerebellar syndrome (Orphanet:2715)
Oculo-skeletal-renal syndrome (Orphanet:2716)
Oculoauricular syndrome, Schorderet type (Orphanet:157962)
Oculocutaneous albinism type 4 (Orphanet:79435)
Oculotrichodysplasia (Orphanet:2718)
Ophthalmoplegia - intellectual deficit - lingua scrotalis (Orphanet:2743)
Osteochondrodysplatic nanism - deafness - retinitis pigmentosa (Orphanet:2653)
PALLIDAL DEGENERATION, PROGRESSIVE, WITH RETINITIS PIGMENTOSA (OMIM:260200)
PEROXISOME BIOGENESIS DISORDER 1B (OMIM:601539)
PEROXISOME BIOGENESIS DISORDER 3B (OMIM:266510)
PEROXISOME BIOGENESIS DISORDER 4B (OMIM:614863)
PEROXISOME BIOGENESIS DISORDER 5B (OMIM:614867)
PEROXISOME BIOGENESIS DISORDER 9B (OMIM:614879)
PMM2-CDG (Orphanet:79318)
Pantothenate kinase-associated neurodegeneration (Orphanet:157850)
Polyneuropathy - hearing loss - ataxia - retinitis pigmentosa - cataract (Orphanet:171848)
Posterior column ataxia - retinitis pigmentosa (Orphanet:88628)
Primary ciliary dyskinesia - retinitis pigmentosa (Orphanet:247522)
Progressive cone dystrophy (Orphanet:1871)
Prolidase deficiency (Orphanet:742)
Proteus syndrome (Orphanet:744)
RETINITIS PIGMENTOSA (OMIM:268000)
RETINITIS PIGMENTOSA 1 (OMIM:180100)
RETINITIS PIGMENTOSA 11 (OMIM:600138)
RETINITIS PIGMENTOSA 12 (OMIM:600105)
RETINITIS PIGMENTOSA 13 (OMIM:600059)
RETINITIS PIGMENTOSA 14 (OMIM:600132)
RETINITIS PIGMENTOSA 17 (OMIM:600852)
RETINITIS PIGMENTOSA 18 (OMIM:601414)
RETINITIS PIGMENTOSA 19 (OMIM:601718)
RETINITIS PIGMENTOSA 2 (OMIM:312600)
RETINITIS PIGMENTOSA 20 (OMIM:613794)
RETINITIS PIGMENTOSA 23 (OMIM:300424)
RETINITIS PIGMENTOSA 24 (OMIM:300155)
RETINITIS PIGMENTOSA 25 (OMIM:602772)
RETINITIS PIGMENTOSA 26 (OMIM:608380)
RETINITIS PIGMENTOSA 27 (OMIM:613750)
RETINITIS PIGMENTOSA 28 (OMIM:606068)
RETINITIS PIGMENTOSA 29 (OMIM:612165)
RETINITIS PIGMENTOSA 3 (OMIM:300029)
RETINITIS PIGMENTOSA 30 (OMIM:607921)
RETINITIS PIGMENTOSA 31 (OMIM:609923)
RETINITIS PIGMENTOSA 33 (OMIM:610359)
RETINITIS PIGMENTOSA 35 (OMIM:610282)
RETINITIS PIGMENTOSA 36 (OMIM:610599)
RETINITIS PIGMENTOSA 37 (OMIM:611131)
RETINITIS PIGMENTOSA 38 (OMIM:613862)
RETINITIS PIGMENTOSA 39 (OMIM:613809)
RETINITIS PIGMENTOSA 4 (OMIM:613731)
RETINITIS PIGMENTOSA 40 (OMIM:613801)
RETINITIS PIGMENTOSA 41 (OMIM:612095)
RETINITIS PIGMENTOSA 42 (OMIM:612943)
RETINITIS PIGMENTOSA 43 (OMIM:613810)
RETINITIS PIGMENTOSA 44 (OMIM:613769)
RETINITIS PIGMENTOSA 45 (OMIM:613767)
RETINITIS PIGMENTOSA 46 (OMIM:612572)
RETINITIS PIGMENTOSA 47 (OMIM:613758)
RETINITIS PIGMENTOSA 48 (OMIM:613827)
RETINITIS PIGMENTOSA 49 (OMIM:613756)
RETINITIS PIGMENTOSA 50 (OMIM:613194)
RETINITIS PIGMENTOSA 51 (OMIM:613464)
RETINITIS PIGMENTOSA 54 (OMIM:613428)
RETINITIS PIGMENTOSA 55 (OMIM:613575)
RETINITIS PIGMENTOSA 56 (OMIM:613581)
RETINITIS PIGMENTOSA 57 (OMIM:613582)
RETINITIS PIGMENTOSA 58 (OMIM:613617)
RETINITIS PIGMENTOSA 59 (OMIM:613861)
RETINITIS PIGMENTOSA 6 (OMIM:312612)
RETINITIS PIGMENTOSA 60 (OMIM:613983)
RETINITIS PIGMENTOSA 61 (OMIM:614180)
RETINITIS PIGMENTOSA 62 (OMIM:614181)
RETINITIS PIGMENTOSA 63 (OMIM:614494)
RETINITIS PIGMENTOSA 66 (OMIM:615233)
RETINITIS PIGMENTOSA 67 (OMIM:615565)
RETINITIS PIGMENTOSA 68 (OMIM:615725)
RETINITIS PIGMENTOSA 69 (OMIM:615780)
RETINITIS PIGMENTOSA 7 (OMIM:608133)
RETINITIS PIGMENTOSA 70 (OMIM:615922)
RETINITIS PIGMENTOSA 9 (OMIM:180104)
RETINITIS PIGMENTOSA INVERSA WITH DEAFNESS (OMIM:268010)
RETINITIS PIGMENTOSA WITH OR WITHOUT SITUS INVERSUS (OMIM:615434)
RETINITIS PIGMENTOSA, LATE-ADULT ONSET (OMIM:268025)
RETINOSCHISIS OF FOVEA (OMIM:268080)
RHIZOMELIC DYSPLASIA, SCOLIOSIS, AND RETINITIS PIGMENTOSA (OMIM:610319)
RHYNS syndrome (Orphanet:140976)
Ramon syndrome (Orphanet:3019)
Refsum disease (Orphanet:773)
Retinal degeneration - nanophthalmos - glaucoma (Orphanet:1574)
Retinal ischemic syndrome - digestive tract small vessel hyalinosis - diffuse cerebral calcifications (Orphanet:3018)
Retinitis pigmentosa (Orphanet:791)
Retinitis pigmentosa - intellectual deficit - deafness - hypogenitalism (Orphanet:3085)
Retinitis pigmentosa 10 (OMIM:180105)
Riboflavin transporter deficiency (Orphanet:97229)
SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS,AND DEVELOPMENTAL DELAY (OMIM:616084)
SLC35A2-CDG (Orphanet:356961)
Saldino-Mainzer syndrome (Orphanet:140969)
Sanfilippo syndrome type C (Orphanet:79271)
Say-Barber-Miller syndrome (Orphanet:3132)
Senior-Loken syndrome (Orphanet:3156)
Senior-Loken syndrome 4 (OMIM:606996)
Senior-Loken syndrome 5 (OMIM:609254)
Senior-Loken syndrome 7 (OMIM:613615)
Senior-Loken syndrome 8 (OMIM:616307)
Short-rib thoracic dysplasia 11 with or without polydactyly (OMIM:615633)
Sjögren-Larsson syndrome (Orphanet:816)
Spastic tetraplegia - retinitis pigmentosa - intellectual deficit (Orphanet:3011)
Spinocerebellar ataxia type 2 (Orphanet:98756)
Spondylo-ocular syndrome (Orphanet:85194)
Spondylometaphyseal dysplasia - cone-rod dystrophy (Orphanet:85167)
Thiamine-responsive megaloblastic anemia syndrome (Orphanet:49827)
Tricho-retino-dento-digital syndrome (Orphanet:1264)
Trichomegaly - retina pigmentary degeneration - dwarfism (Orphanet:3363)
Trisomy 18 (Orphanet:3380)
USHER SYNDROME, TYPE I (OMIM:276900)
USHER SYNDROME, TYPE IC (OMIM:276904)
USHER SYNDROME, TYPE ID (OMIM:601067)
USHER SYNDROME, TYPE IE (OMIM:602097)
USHER SYNDROME, TYPE IF (OMIM:602083)
USHER SYNDROME, TYPE IG (OMIM:606943)
USHER SYNDROME, TYPE IIC (OMIM:605472)
USHER SYNDROME, TYPE IID (OMIM:611383)
USHER SYNDROME, TYPE IIIA (OMIM:276902)
USHER SYNDROME, TYPE IJ (OMIM:614869)
USHER SYNDROME, TYPE IK (OMIM:614990)
Usher syndrome (Orphanet:886)
Usher syndrome type 1 (Orphanet:231169)
Usher syndrome type 2 (Orphanet:231178)
Usher syndrome type 3 (Orphanet:231183)
Van den Bosch syndrome (Orphanet:3417)
Vici syndrome (Orphanet:1493)
Waardenburg-Shah syndrome (Orphanet:897)
Werner syndrome (Orphanet:902)
Wrinkly skin syndrome (Orphanet:2834)
Wyburn-Mason syndrome (Orphanet:53719)
X-linked intellectual disability-retinitis pigmentosa syndrome (Orphanet:85332)
X-linked retinal dysplasia (Orphanet:1852)