Retinal coloboma

Symptom Information:

Symptom ID: HPO:0000480
Synonyms:
Chorioretinal coloboma [Orphanet:5030]
Fundus coloboma (disorder) [Orphanet:5030]
Fundus coloboma [Orphanet:5030]
Retinal coloboma [OMIM:Retinal coloboma]
Retinoschisis/retinal/chorioretinal coloboma [Orphanet:5030]
Retinal 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:0000567 "Chorioretinal 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: "Retinal coloboma" [OMIM:Retinal 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         Abnormality of the retina
HPO         Coloboma
Orphanet Abnormality of the eye
MedDRA Retinal disorders congenital
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)
                Retinal coloboma(HPO:0000480)
             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)
MedDRA:
Congenital, familial and genetic disorders(MedDRA:10010331)
    Eye disorders congenital(MedDRA:10015920)
       Retinal disorders congenital(MedDRA:10038855)
          Retinal coloboma(HPO:0000480)
Database Frequency: 16 / 7739
Resource:

All diseases associated with this symptom:

3C syndrome (Orphanet:7)
Acro-renal-ocular syndrome (Orphanet:959)
Branchio-oculo-facial syndrome (Orphanet:1297)
CHARGE syndrome (Orphanet:138)
Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome (Orphanet:363741)
Goldmann-Favre syndrome (Orphanet:53540)
Joubert syndrome 5 (OMIM:610188)
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 7 (OMIM:614497)
MOMO syndrome (Orphanet:2563)
Okihiro syndrome (Orphanet:93293)
Peters-plus syndrome (Orphanet:709)
RETINOSCHISIS, AUTOSOMAL DOMINANT (OMIM:180270)
Renal coloboma syndrome (Orphanet:1475)
Townes-Brocks syndrome (Orphanet:857)
X-linked retinoschisis (Orphanet:792)
Zunich-Kaye syndrome (Orphanet:3474)