Choroideremia

Symptom Information:

Symptom ID: HPO:0001139
Synonyms:
Choroidal atrophy [Orphanet:4780]
Choroidal atrophy (finding) [Orphanet:4780]
Choroideremia (disorder) [Orphanet:4780]
Choroideraemia [HPO:0001139]
Choroideremia [Orphanet:4780]
Choroideremia [OMIM:Choroideremia]
Choroidal anomalies/atrophy/choroideremia [Orphanet:4780]
Choroideraemia [Orphanet:4780]
Choroidal dystrophy [MedDRA:10008785]
Central choroidal atrophy, total [MedDRA:10008785]
Central dystrophy of choroid, partial [MedDRA:10008785]
Choroideremia [MedDRA:10008785]
Circumpapillary dystrophy of choroid, partial [MedDRA:10008785]
Circumpapillary dystrophy of choroid, total [MedDRA:10008785]
Other diffuse or generalized dystrophy of choroid, partial [MedDRA:10008785]
Other diffuse or generalized dystrophy of choroid, total [MedDRA:10008785]
Choroideraemia [MedDRA:10008785]
Choroidal atrophy [OMIM:Choroidal atrophy]
Choroideremia (degeneration of the choriocapillaris and retinal pigment epithelium and finally retina) [OMIM:Choroideremia (degeneration of the choriocapillaris and retinal pigment epithelium and finally retina)]
Quality:
Cross references:
Orphanet:4780 "Choroidal anomalies/atrophy/choroideremia" [Orphanet:4780]
OMIM: "Choroideremia" [OMIM:Choroideremia]
OMIM: "Choroidal atrophy" [OMIM:Choroidal atrophy]
OMIM: "Choroideremia (degeneration of the choriocapillaris and retinal pigment epithelium and finally retina)" [OMIM:Choroideremia (degeneration of the choriocapillaris and retinal pigment epithelium and finally retina)]
UMLS:C0008525 "Choroideraemia" [HPO:0001139]
UMLS:C0423450 "Choroidal atrophy" [Orphanet:4780]
UMLS:C0008525 "Choroideremia" [Orphanet:4780]
Is a (Direct Parents):
Orphanet Abnormality of the choroid
Orphanet Abnormality of the eye
MedDRA Choroid and vitreous structural change, deposit and degeneration
HPO         Abnormality of the choroid
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)
                         Choroideremia(HPO:0001139)
                Abnormality of the uvea(HPO:0000553)
                   Abnormality of the choroid(HPO:0000610)
                      Choroideremia(HPO:0001139)
MedDRA:
Eye disorders(MedDRA:10015919)
    Ocular structural change, deposit and degeneration NEC(MedDRA:10042261)
       Choroid and vitreous structural change, deposit and degeneration(MedDRA:10008776)
          Choroideremia(HPO:0001139)
Database Frequency: 7 / 7739
Resource:

All diseases associated with this symptom:

Autosomal recessive chorioretinopathy-microcephaly (Orphanet:2518)
CATARACT 6, MULTIPLE TYPES (OMIM:116600)
Choroideremia (Orphanet:180)
Choroideremia - deafness - obesity (Orphanet:1435)
FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY (OMIM:136900)
Laurence-Moon syndrome (Orphanet:2377)
Van den Bosch syndrome (Orphanet:3417)