Pigmentary retinal deposits

Symptom Information:

Symptom ID: HPO:0007702
Synonyms:
Retinal pigment clumping [HPO:0007702]
Pigmentary retinal deposits [OMIM:Pigmentary retinal deposits]
Retinal pigment clumping [OMIM:Retinal pigment clumping]
Quality:
Cross references:
OMIM: "Pigmentary retinal deposits" [OMIM:Pigmentary retinal deposits]
OMIM: "Retinal pigment clumping" [OMIM:Retinal pigment clumping]
Is a (Direct Parents):
HPO         Hyperpigmentation of the fundus
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)
                               Pigmentary retinal deposits(HPO:0007702)
MedDRA:
Database Frequency: 5 / 7739
Resource:

All diseases associated with this symptom:

Alagille syndrome due to 20p12 microdeletion (Orphanet:261600)
Alagille syndrome due to a JAG1 point mutation (Orphanet:261619)
Alström syndrome (Orphanet:64)
Proximal tubulopathy - diabetes mellitus - cerebellar ataxia (Orphanet:3390)
Reticular dystrophy of the retinal pigment epithelium (Orphanet:99002)