Chorioretinal coloboma

Symptom Information:

Symptom ID: HPO:0000567
Synonyms:
Choroidoretinal coloboma [HPO:0000567]
Retinal coloboma [Orphanet:5030]
Fundus coloboma (disorder) [Orphanet:5030]
Fundus coloboma [Orphanet:5030]
Chorioretinal coloboma [OMIM:Chorioretinal coloboma]
Choroidoretinal coloboma [OMIM:Choroidoretinal coloboma]
Retinoschisis/retinal/chorioretinal coloboma [Orphanet:5030]
Retinal coloboma [MedDRA:10052643]
Fundus coloboma [MedDRA:10052643]
Chorioretinal coloboma (rare) [OMIM:Chorioretinal coloboma (rare)]
Coloboma, chorioretinal [OMIM:Coloboma, chorioretinal]
Retinoschisis [MedDRA:10061492]
Retinoschisis (disorder) [Orphanet:5030]
Retinoschisis [Orphanet:5030]
Retinoschisis [OMIM:Retinoschisis]
Quality:
Cross references:
HPO:0000480 "Retinal coloboma" [Orphanet:5030]
HPO:0007808 "Bilateral retinal coloboma" [Orphanet:5030]
HPO:0000611 "Choroid coloboma" [Orphanet:5030]
Orphanet:5030 "Retinoschisis/retinal/chorioretinal coloboma" [Orphanet:5030]
OMIM: "Chorioretinal coloboma" [OMIM:Chorioretinal coloboma]
OMIM: "Choroidoretinal coloboma" [OMIM:Choroidoretinal coloboma]
OMIM: "Chorioretinal coloboma (rare)" [OMIM:Chorioretinal coloboma (rare)]
OMIM: "Coloboma, chorioretinal" [OMIM:Coloboma, chorioretinal]
OMIM: "Retinoschisis" [OMIM:Retinoschisis]
UMLS:C0240896 "Fundus coloboma" [Orphanet:5030]
UMLS:C0152439 "Retinoschisis" [Orphanet:5030]
Is a (Direct Parents):
HPO         Choroid coloboma
HPO         Chorioretinal abnormality
MedDRA Retinal disorders congenital
Orphanet Abnormality of the eye
HPO         Retinal coloboma
Orphanet Retinal coloboma
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of the eye(HPO:0000478)
          Abnormal eye morphology(HPO:0012372)
             Coloboma(HPO:0000589)
                Choroid coloboma(HPO:0000611)
                   Chorioretinal coloboma(HPO:0000567)
                Retinal coloboma(HPO:0000480)
                   Chorioretinal coloboma(HPO:0000567)
             Abnormality of the globe(HPO:0012374)
                Abnormality of the uvea(HPO:0000553)
                   Abnormality of the choroid(HPO:0000610)
                      Choroid coloboma(HPO:0000611)
                         Chorioretinal coloboma(HPO:0000567)
                      Chorioretinal abnormality(HPO:0000532)
                         Chorioretinal coloboma(HPO:0000567)
                Abnormality of the posterior segment of the globe(HPO:0004329)
                   Abnormality of the fundus(HPO:0001098)
                      Abnormality of the choroid(HPO:0000610)
                         Choroid coloboma(HPO:0000611)
                            Chorioretinal coloboma(HPO:0000567)
                         Chorioretinal abnormality(HPO:0000532)
                            Chorioretinal coloboma(HPO:0000567)
                      Abnormality of the retina(HPO:0000479)
                         Retinal coloboma(HPO:0000480)
                            Chorioretinal coloboma(HPO:0000567)
                         Chorioretinal abnormality(HPO:0000532)
                            Chorioretinal coloboma(HPO:0000567)
MedDRA:
Congenital, familial and genetic disorders(MedDRA:10010331)
    Eye disorders congenital(MedDRA:10015920)
       Retinal disorders congenital(MedDRA:10038855)
          Chorioretinal coloboma(HPO:0000567)
Database Frequency: 26 / 7739
Resource:

All diseases associated with this symptom:

ARIMA SYNDROME (OMIM:243910)
BARAITSER-WINTER SYNDROME 1 (OMIM:243310)
Baraitser-Winter syndrome (Orphanet:2995)
CRANIOSYNOSTOSIS-MENTAL RETARDATION-CLEFTING SYNDROME (OMIM:218650)
Cat-eye syndrome (Orphanet:195)
Deaf blind hypopigmentation syndrome, Yemenite type (Orphanet:3214)
Disorder of sex development - intellectual deficit (Orphanet:2983)
Focal dermal hypoplasia (Orphanet:2092)
Goldmann-Favre syndrome (Orphanet:53540)
Hallermann-Streiff syndrome (Orphanet:2108)
Intellectual deficit, X-linked, Kroes type (Orphanet:163961)
Jacobsen syndrome (Orphanet:2308)
Joubert syndrome (Orphanet:475)
Joubert syndrome 1 (OMIM:213300)
Joubert syndrome 2 (OMIM:608091)
Joubert syndrome 6 (OMIM:610688)
Joubert syndrome with oculorenal defect (Orphanet:2318)
MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE III (OMIM:210730)
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 7 (OMIM:614497)
MICROPHTHALMIA, SYNDROMIC 1 (OMIM:309800)
OPTIC DISC ANOMALIES WITH RETINAL AND/OR MACULAR DYSTROPHY (OMIM:212550)
RETINOSCHISIS, AUTOSOMAL DOMINANT (OMIM:180270)
Temtamy syndrome (Orphanet:1777)
Townes-Brocks syndrome (Orphanet:857)
Upper limb defect - eye and ear abnormalities (Orphanet:2489)
X-linked retinoschisis (Orphanet:792)