Choroid coloboma

Symptom Information:

Symptom ID: HPO:0000611
Synonyms:
Choroidal coloboma [HPO:0000611]
Coloboma of choroid [HPO:0000611]
Chorioretinal coloboma [Orphanet:5030]
Fundus coloboma (disorder) [Orphanet:5030]
Fundus coloboma [Orphanet:5030]
Choroid coloboma [OMIM:Choroid coloboma]
Choroidal coloboma [OMIM:Choroidal 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 of choroid [OMIM:Coloboma of choroid]
Coloboma, chorioretinal [OMIM:Coloboma, chorioretinal]
Coloboma, choroid (rare) [OMIM:Coloboma, choroid (rare)]
Retinoschisis [MedDRA:10061492]
Retinoschisis (disorder) [Orphanet:5030]
Retinoschisis [Orphanet:5030]
Retinoschisis [OMIM:Retinoschisis]
Choroidal coloboma [MedDRA:10057402]
Quality:
Cross references:
HPO:0000567 "Chorioretinal coloboma" [Orphanet:5030]
HPO:0000480 "Retinal coloboma" [Orphanet:5030]
Orphanet:5030 "Retinoschisis/retinal/chorioretinal coloboma" [Orphanet:5030]
OMIM: "Choroid coloboma" [OMIM:Choroid coloboma]
OMIM: "Choroidal coloboma" [OMIM:Choroidal coloboma]
OMIM: "Chorioretinal coloboma (rare)" [OMIM:Chorioretinal coloboma (rare)]
OMIM: "Coloboma of choroid" [OMIM:Coloboma of choroid]
OMIM: "Coloboma, chorioretinal" [OMIM:Coloboma, chorioretinal]
OMIM: "Coloboma, choroid (rare)" [OMIM:Coloboma, choroid (rare)]
OMIM: "Retinoschisis" [OMIM:Retinoschisis]
UMLS:C0240896 "Fundus coloboma" [Orphanet:5030]
UMLS:C0152439 "Retinoschisis" [Orphanet:5030]
Is a (Direct Parents):
Orphanet Abnormality of the eye
HPO         Abnormality of the choroid
MedDRA Iris and choroid disorders congenital
HPO         Coloboma
MedDRA Retinal disorders congenital
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 choroid(HPO:0000610)
                         Choroid coloboma(HPO:0000611)
                Abnormality of the uvea(HPO:0000553)
                   Abnormality of the choroid(HPO:0000610)
                      Choroid coloboma(HPO:0000611)
             Coloboma(HPO:0000589)
                Choroid coloboma(HPO:0000611)
MedDRA:
Congenital, familial and genetic disorders(MedDRA:10010331)
    Eye disorders congenital(MedDRA:10015920)
       Retinal disorders congenital(MedDRA:10038855)
          Choroid coloboma(HPO:0000611)
       Iris and choroid disorders congenital(MedDRA:10022946)
          Choroid coloboma(HPO:0000611)
Database Frequency: 12 / 7739
Resource:

All diseases associated with this symptom:

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)
Goldmann-Favre syndrome (Orphanet:53540)
Hallermann-Streiff syndrome (Orphanet:2108)
MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE III (OMIM:210730)
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 7 (OMIM:614497)
RETINOSCHISIS, AUTOSOMAL DOMINANT (OMIM:180270)
Renpenning syndrome (Orphanet:3242)
Townes-Brocks syndrome (Orphanet:857)
X-linked retinoschisis (Orphanet:792)