Bilateral retinal coloboma

Symptom Information:

Symptom ID: HPO:0007808
Synonyms:
Retinal coloboma [Orphanet:5030]
Bilateral retinal coloboma [OMIM:Bilateral retinal coloboma]
Retinoschisis/retinal/chorioretinal coloboma [Orphanet:5030]
Retinal coloboma [MedDRA:10052643]
Fundus coloboma [MedDRA:10052643]
Retinoschisis [MedDRA:10061492]
Retinoschisis (disorder) [Orphanet:5030]
Retinoschisis [Orphanet:5030]
Retinoschisis [OMIM:Retinoschisis]
Quality:
Cross references:
HPO:0000480 "Retinal coloboma" [Orphanet:5030]
HPO:0000567 "Chorioretinal coloboma" [Orphanet:5030]
Orphanet:5030 "Retinoschisis/retinal/chorioretinal coloboma" [Orphanet:5030]
OMIM: "Bilateral retinal coloboma" [OMIM:Bilateral retinal coloboma]
OMIM: "Retinoschisis" [OMIM:Retinoschisis]
UMLS:C0152439 "Retinoschisis" [Orphanet:5030]
Is a (Direct Parents):
MedDRA Retinal disorders congenital
HPO         Retinal coloboma
Orphanet Abnormality of the eye
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)
             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 coloboma(HPO:0000480)
                            Bilateral retinal coloboma(HPO:0007808)
             Coloboma(HPO:0000589)
                Retinal coloboma(HPO:0000480)
                   Bilateral retinal coloboma(HPO:0007808)
MedDRA:
Congenital, familial and genetic disorders(MedDRA:10010331)
    Eye disorders congenital(MedDRA:10015920)
       Retinal disorders congenital(MedDRA:10038855)
          Bilateral retinal coloboma(HPO:0007808)
Database Frequency: 4 / 7739
Resource:

All diseases associated with this symptom:

AORTIC ARCH INTERRUPTION, FACIAL PALSY, AND RETINAL COLOBOMA (OMIM:107550)
Goldmann-Favre syndrome (Orphanet:53540)
RETINOSCHISIS, AUTOSOMAL DOMINANT (OMIM:180270)
X-linked retinoschisis (Orphanet:792)