Congenital hypertrophy of retinal pigment epithelium

Symptom Information:

Symptom ID: HPO:0007649
Synonyms:
Congenital hypertrophy of retinal pigment epithelium (CHRPE) [OMIM:Congenital hypertrophy of retinal pigment epithelium (CHRPE)]
Quality:
Cross references:
OMIM: "Congenital hypertrophy of retinal pigment epithelium (CHRPE)" [OMIM:Congenital hypertrophy of retinal pigment epithelium (CHRPE)]
Is a (Direct Parents):
HPO         Hyperpigmentation of the fundus
HPO         Grouped congenital hypertrophy of retinal pigment epithelium
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)
                         obsolete Abnormality of the retinal pigment epithelium(HPO:0008051)
                            Hyperpigmentation of the fundus(HPO:0011512)
                               Congenital hypertrophy of retinal pigment epithelium(HPO:0007649)
MedDRA:
Database Frequency: 5 / 7739
Resource:

All diseases associated with this symptom:

APC-related attenuated familial adenomatous polyposis (Orphanet:247806)
Attenuated familial adenomatous polyposis (Orphanet:220460)
Familial adenomatous polyposis (Orphanet:733)
Gardner syndrome (Orphanet:79665)
Turcot syndrome with polyposis (Orphanet:99818)