Abnormality of macular pigmentation

Symptom Information:

Symptom ID: HPO:0008002
Synonyms:
Macular pigmentary changes [HPO:0008002]
Macular pigmentary anomaly [Orphanet:5180]
Macular pigmentary changes [OMIM:Macular pigmentary changes]
Macular pigmentary anomaly/cherry-red spot [Orphanet:5180]
Quality:
Cross references:
Orphanet:5180 "Macular pigmentary anomaly/cherry-red spot" [Orphanet:5180]
OMIM: "Macular pigmentary changes" [OMIM:Macular pigmentary changes]
Is a (Direct Parents):
HPO         Abnormality of foveal pigmentation
HPO         Abnormality of the macula
Orphanet Abnormality of the eye
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)
                         Abnormality of the macula(HPO:0001103)
                            Abnormality of macular pigmentation(HPO:0008002)
MedDRA:
Database Frequency: 20 / 7739
Resource:

All diseases associated with this symptom:

Blue cone monochromatism (Orphanet:16)
CONE-ROD DYSTROPHY, X-LINKED, 3 (OMIM:300476)
Farber lipogranulomatosis (Orphanet:333)
GM1 gangliosidosis (Orphanet:354)
Galactosialidosis (Orphanet:351)
Gaucher disease (Orphanet:355)
Hermansky-Pudlak syndrome (Orphanet:79430)
Hypotrichosis with juvenile macular degeneration (Orphanet:1573)
Ito hypomelanosis (Orphanet:435)
Leber congenital amaurosis 12 (OMIM:610612)
North Carolina macular dystrophy (Orphanet:75327)
Orofaciodigital syndrome type 3 (Orphanet:2752)
RETINOSCHISIS, AUTOSOMAL DOMINANT (OMIM:180270)
Riboflavin transporter deficiency (Orphanet:97229)
Sandhoff disease (Orphanet:796)
Sialidosis type 1 (Orphanet:812)
Spondylometaphyseal dysplasia - cone-rod dystrophy (Orphanet:85167)
Tay-Sachs disease (Orphanet:845)
Waardenburg-Shah syndrome (Orphanet:897)
Wolfram syndrome 1 (OMIM:222300)