Iridoretinal coloboma

Symptom Information:

Symptom ID: HPO:0007744
Synonyms:
Coloboma of iris and retina [HPO:0007744]
Coloboma of iris and retina [OMIM:Coloboma of iris and retina]
Quality:
Cross references:
OMIM: "Coloboma of iris and retina" [OMIM:Coloboma of iris and retina]
Is a (Direct Parents):
HPO         Iris 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)
                Iris coloboma(HPO:0000612)
                   Iridoretinal coloboma(HPO:0007744)
             Abnormality of the globe(HPO:0012374)
                Abnormality of the anterior segment of the globe(HPO:0004328)
                   Abnormality of the iris(HPO:0000525)
                      Iris coloboma(HPO:0000612)
                         Iridoretinal coloboma(HPO:0007744)
                Abnormality of the uvea(HPO:0000553)
                   Abnormality of the iris(HPO:0000525)
                      Iris coloboma(HPO:0000612)
                         Iridoretinal coloboma(HPO:0007744)
MedDRA:
Database Frequency: 2 / 7739
Resource:

All diseases associated with this symptom:

Holoprosencephaly - radial heart renal anomalies (Orphanet:3186)
Kapur-Toriello syndrome (Orphanet:2328)