Cone/cone-rod dystrophy

Symptom Information:

Symptom ID: HPO:0000548
Synonyms:
Cone-rod retinal dystrophy [HPO:0000548]
Cone-rod dystrophy [OMIM:Cone-rod dystrophy]
Cone-rod retinal dystrophy [OMIM:Cone-rod retinal dystrophy]
Cone-rod dystrophy (uncommon) [OMIM:Cone-rod dystrophy (uncommon)]
Rod-cone dystrophy [OMIM:Rod-cone dystrophy]
Quality:
Cross references:
OMIM: "Cone-rod dystrophy" [OMIM:Cone-rod dystrophy]
OMIM: "Cone-rod retinal dystrophy" [OMIM:Cone-rod retinal dystrophy]
OMIM: "Cone-rod dystrophy (uncommon)" [OMIM:Cone-rod dystrophy (uncommon)]
OMIM: "Rod-cone dystrophy" [OMIM:Rod-cone dystrophy]
Is a (Direct Parents):
HPO         Retinal dystrophy
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)
                         Retinal dystrophy(HPO:0000556)
                            Cone/cone-rod dystrophy(HPO:0000548)
MedDRA:
Database Frequency: 47 / 7739
Resource:

All diseases associated with this symptom:

Alström syndrome (Orphanet:64)
Bardet-Biedl syndrome (Orphanet:110)
Bardet-Biedl syndrome 1 (OMIM:209900 )
Bardet-Biedl syndrome 10 (OMIM:615987)
Bardet-Biedl syndrome 12 (OMIM:615989)
Bardet-Biedl syndrome 16 (OMIM:615993)
Bardet-Biedl syndrome 2 (OMIM:615981)
Bardet-Biedl syndrome 4 (OMIM:615982)
Bardet-Biedl syndrome 5 (OMIM:615983)
Bardet-Biedl syndrome 7 (OMIM:615984)
CONE DYSTROPHY 3 (OMIM:602093)
CONE DYSTROPHY 4 (OMIM:613093)
CONE DYSTROPHY, X-LINKED, WITH TAPETAL-LIKE SHEEN (OMIM:304030)
CONE-ROD DYSTROPHY 1 (OMIM:600624)
CONE-ROD DYSTROPHY 10 (OMIM:610283)
CONE-ROD DYSTROPHY 11 (OMIM:610381)
CONE-ROD DYSTROPHY 12 (OMIM:612657)
CONE-ROD DYSTROPHY 13 (OMIM:608194)
CONE-ROD DYSTROPHY 15 (OMIM:613660)
CONE-ROD DYSTROPHY 16 (OMIM:614500)
CONE-ROD DYSTROPHY 17 (OMIM:615163)
CONE-ROD DYSTROPHY 18 (OMIM:615374)
CONE-ROD DYSTROPHY 19 (OMIM:615860)
CONE-ROD DYSTROPHY 2 (OMIM:120970)
CONE-ROD DYSTROPHY 20 (OMIM:615973)
CONE-ROD DYSTROPHY 3 (OMIM:604116)
CONE-ROD DYSTROPHY 5 (OMIM:600977)
CONE-ROD DYSTROPHY 6 (OMIM:601777)
CONE-ROD DYSTROPHY 7 (OMIM:603649)
CONE-ROD DYSTROPHY 8 (OMIM:605549)
CONE-ROD DYSTROPHY 9 (OMIM:612775)
CONE-ROD DYSTROPHY, X-LINKED, 1 (OMIM:304020)
CONE-ROD DYSTROPHY, X-LINKED, 2 (OMIM:300085)
CONE-ROD DYSTROPHY, X-LINKED, 3 (OMIM:300476)
Cone rod dystrophy (Orphanet:1872)
Glycogen storage disease due to LAMP-2 deficiency (Orphanet:34587)
Hypotrichosis with juvenile macular degeneration (Orphanet:1573)
Jalili syndrome (Orphanet:1873)
Leber congenital amaurosis 10 (OMIM:611755)
Leber congenital amaurosis 4 (OMIM:604393)
Oculoauricular syndrome, Schorderet type (Orphanet:157962)
RETINAL CONE DYSTROPHY 3A (OMIM:610024)
RETINITIS PIGMENTOSA 3 (OMIM:300029)
RETINITIS PIGMENTOSA 35 (OMIM:610282)
RETINOSCHISIS OF FOVEA (OMIM:268080)
Spondylometaphyseal dysplasia - cone-rod dystrophy (Orphanet:85167)
Thiamine-responsive megaloblastic anemia syndrome (Orphanet:49827)