Chorioretinal dysplasia

Symptom Information:

Symptom ID: HPO:0007731
Synonyms:
Retinal dystrophy [Orphanet:5330]
Retinal dystrophy (disorder) [Orphanet:5330]
Retinal dysplasia (disorder) [Orphanet:5330]
Retinal Dystrophies [Orphanet:5330]
Retinal Dysplasia [Orphanet:5330]
Retinal/chorioretinal dysplasia/dystrophy [Orphanet:5330]
Retinal dystrophy [MedDRA:10038857]
Dystrophies primarily involving the retinal pigment epithelium [MedDRA:10038857]
Other dystrophies primarily involving the sensory retina [MedDRA:10038857]
Pigmentary retinal dystrophy [MedDRA:10038857]
Retinal dystrophies primarily involving Bruch's membrane [MedDRA:10038857]
Retinal dystrophy in other systemic disorders and syndromes [MedDRA:10038857]
Retinal dystrophy in systemic or cerebroretinal lipidoses [MedDRA:10038857]
Vitreoretinal dystrophies [MedDRA:10038857]
Retinal dysplasia (1 patient) [OMIM:Retinal dysplasia (1 patient)]
Retinal dysplasia (WWS) [OMIM:Retinal dysplasia (WWS)]
Retinal dysplasia (less common) [OMIM:Retinal dysplasia (less common)]
Retinal dystrophy (1 family) [OMIM:Retinal dystrophy (1 family)]
Retinal dystrophy (less common) [OMIM:Retinal dystrophy (less common)]
Retinal dystrophy (rare) [OMIM:Retinal dystrophy (rare)]
Retinal dystrophy (reported in 1 patient) [OMIM:Retinal dystrophy (reported in 1 patient)]
Retinal dystrophy (variable) [OMIM:Retinal dystrophy (variable)]
Quality:
Cross references:
HPO:0001135 "Chorioretinal dystrophy" [Orphanet:5330]
HPO:0007973 "Retinal dysplasia" [Orphanet:5330]
HPO:0000556 "Retinal dystrophy" [Orphanet:5330]
Orphanet:5330 "Retinal/chorioretinal dysplasia/dystrophy" [Orphanet:5330]
OMIM: "Retinal dysplasia (1 patient)" [OMIM:Retinal dysplasia (1 patient)]
OMIM: "Retinal dysplasia (WWS)" [OMIM:Retinal dysplasia (WWS)]
OMIM: "Retinal dysplasia (less common)" [OMIM:Retinal dysplasia (less common)]
OMIM: "Retinal dystrophy (1 family)" [OMIM:Retinal dystrophy (1 family)]
OMIM: "Retinal dystrophy (less common)" [OMIM:Retinal dystrophy (less common)]
OMIM: "Retinal dystrophy (rare)" [OMIM:Retinal dystrophy (rare)]
OMIM: "Retinal dystrophy (reported in 1 patient)" [OMIM:Retinal dystrophy (reported in 1 patient)]
OMIM: "Retinal dystrophy (variable)" [OMIM:Retinal dystrophy (variable)]
UMLS:C0854723 "Retinal Dystrophies" [Orphanet:5330]
UMLS:C0035313 "Retinal Dysplasia" [Orphanet:5330]
Is a (Direct Parents):
MedDRA Retinal structural change, deposit and degeneration
HPO         Chorioretinal abnormality
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 choroid(HPO:0000610)
                         Chorioretinal abnormality(HPO:0000532)
                            Chorioretinal dysplasia(HPO:0007731)
                      Abnormality of the retina(HPO:0000479)
                         Chorioretinal abnormality(HPO:0000532)
                            Chorioretinal dysplasia(HPO:0007731)
                Abnormality of the uvea(HPO:0000553)
                   Abnormality of the choroid(HPO:0000610)
                      Chorioretinal abnormality(HPO:0000532)
                         Chorioretinal dysplasia(HPO:0007731)
MedDRA:
Eye disorders(MedDRA:10015919)
    Ocular structural change, deposit and degeneration NEC(MedDRA:10042261)
       Retinal structural change, deposit and degeneration(MedDRA:10038896)
          Chorioretinal dysplasia(HPO:0007731)
Database Frequency: 16 / 7739
Resource:

All diseases associated with this symptom:

Alström syndrome (Orphanet:64)
Autosomal recessive chorioretinopathy-microcephaly (Orphanet:2518)
Bardet-Biedl syndrome (Orphanet:110)
CATARACT 16, MULTIPLE TYPES (OMIM:613763)
Cranioectodermal dysplasia 1 (OMIM:218330)
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency (Orphanet:713)
Joubert syndrome 1 (OMIM:213300)
Joubert syndrome 16 (OMIM:614465)
MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 3 (OMIM:616335)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 1 (OMIM:236670)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 3 (OMIM:253280)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 4 (OMIM:253800)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),TYPE B, 1 (OMIM:613155)
Maternally-inherited diabetes and deafness (Orphanet:225)
Microcephaly - lymphedema - chorioretinopathy (Orphanet:2526)
PONTOCEREBELLAR HYPOPLASIA, TYPE 1B (OMIM:614678)