Macular dystrophy

Symptom Information:

Symptom ID: HPO:0007754
Synonyms:
Hereditary macular dystrophy (disorder) [Orphanet:5360]
Macular dystrophy [Orphanet:5360]
Macular dystrophy [OMIM:Macular dystrophy]
Macular dystrophy/absence/hypoplasia of the macula [Orphanet:5360]
Maculopathy [MedDRA:10025425]
Macula abnormality [MedDRA:10025425]
Macula lutea abnormality [MedDRA:10025425]
Macular cyst, hole, or pseudohole of retina [MedDRA:10025425]
Toxic maculopathy of retina [MedDRA:10025425]
Macular dystrophy [MedDRA:10025425]
Pigmentary maculopathy [MedDRA:10025425]
Macular pigment atrophy [MedDRA:10025425]
Bull's eye maculopathy [MedDRA:10025425]
Bull's eye maculopathy (rare) [OMIM:Bull's eye maculopathy (rare)]
Maculopathy (uncommon) [OMIM:Maculopathy (uncommon)]
Quality:
Cross references:
HPO:0000608 "Macular degeneration" [Orphanet:5360]
Orphanet:5360 "Macular dystrophy/absence/hypoplasia of the macula" [Orphanet:5360]
OMIM: "Macular dystrophy" [OMIM:Macular dystrophy]
OMIM: "Bull's eye maculopathy (rare)" [OMIM:Bull's eye maculopathy (rare)]
OMIM: "Maculopathy (uncommon)" [OMIM:Maculopathy (uncommon)]
UMLS:C0730292 "Macular dystrophy" [Orphanet:5360]
Is a (Direct Parents):
MedDRA Retinal structural change, deposit and degeneration
HPO         Occult macular dystrophy
Orphanet Retinopathy
HPO         Macular degeneration
Orphanet Macular degeneration
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)
                            Macular degeneration(HPO:0000608)
                               Macular dystrophy(HPO:0007754)
MedDRA:
Eye disorders(MedDRA:10015919)
    Ocular structural change, deposit and degeneration NEC(MedDRA:10042261)
       Retinal structural change, deposit and degeneration(MedDRA:10038896)
          Macular dystrophy(HPO:0007754)
Database Frequency: 26 / 7739
Resource:

All diseases associated with this symptom:

Adult-onset foveomacular vitelliform dystrophy (Orphanet:99000)
Benign concentric annular macular dystrophy (Orphanet:251287)
Best vitelliform macular dystrophy (Orphanet:1243)
Butterfly-shaped pigment dystrophy (Orphanet:99001)
Cerebro-facio-thoracic dysplasia (Orphanet:1394)
Cystoid macular dystrophy (Orphanet:75381)
Deafness - enamel hypoplasia - nail defects (Orphanet:3220)
EEM syndrome (Orphanet:1897)
FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY (OMIM:136900)
Hypotrichosis with juvenile macular degeneration (Orphanet:1573)
MACULAR DYSTROPHY WITH CENTRAL CONE INVOLVEMENT (OMIM:616170)
MACULAR DYSTROPHY, FENESTRATED SHEEN TYPE (OMIM:153890)
MACULAR DYSTROPHY, VITELLIFORM, 1 (OMIM:153840)
MACULAR DYSTROPHY, VITELLIFORM, 4 (OMIM:616151)
MACULAR DYSTROPHY, VITELLIFORM, 5 (OMIM:616152)
MACULAR DYSTROPHY, X-LINKED (OMIM:309100)
MELAS (Orphanet:550)
Macular corneal dystrophy (Orphanet:98969)
Maternally-inherited diabetes and deafness (Orphanet:225)
North Carolina macular dystrophy (Orphanet:75327)
Occult macular dystrophy (Orphanet:247834)
RETINOSCHISIS OF FOVEA (OMIM:268080)
Retinal macular dystrophy type 2 (Orphanet:319640)
STARGARDT DISEASE 3 (OMIM:600110)
Sorsby's fundus dystrophy (Orphanet:59181)
Thiamine-responsive megaloblastic anemia syndrome (Orphanet:49827)