Macular degeneration

Symptom Information:

Symptom ID: HPO:0000608
Synonyms:
Pigmented macular degeneration [HPO:0000608]
Macular dystrophy [Orphanet:5360]
Hereditary macular dystrophy (disorder) [Orphanet:5360]
Macular degeneration [OMIM:Macular degeneration]
Pigmented macular degeneration [OMIM:Pigmented macular degeneration]
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)]
Macular degeneration (rare) [OMIM:Macular degeneration (rare)]
Maculopathy (uncommon) [OMIM:Maculopathy (uncommon)]
Macular degeneration [MedDRA:10025409]
Quality:
Cross references:
HPO:0007754 "Macular dystrophy" [Orphanet:5360]
Orphanet:5360 "Macular dystrophy/absence/hypoplasia of the macula" [Orphanet:5360]
OMIM: "Macular degeneration" [OMIM:Macular degeneration]
OMIM: "Pigmented macular degeneration" [OMIM:Pigmented macular degeneration]
OMIM: "Bull's eye maculopathy (rare)" [OMIM:Bull's eye maculopathy (rare)]
OMIM: "Macular degeneration (rare)" [OMIM:Macular degeneration (rare)]
OMIM: "Maculopathy (uncommon)" [OMIM:Maculopathy (uncommon)]
UMLS:C0730292 "Macular dystrophy" [Orphanet:5360]
Is a (Direct Parents):
Orphanet Retinopathy
MedDRA Retinal structural change, deposit and degeneration
HPO         Abnormality of the macula
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)
MedDRA:
Eye disorders(MedDRA:10015919)
    Ocular structural change, deposit and degeneration NEC(MedDRA:10042261)
       Retinal structural change, deposit and degeneration(MedDRA:10038896)
          Macular degeneration(HPO:0000608)
Database Frequency: 36 / 7739
Resource:

All diseases associated with this symptom:

Alström syndrome (Orphanet:64)
Autosomal recessive spastic paraplegia type 11 (Orphanet:2822)
Autosomal recessive spastic paraplegia type 15 (Orphanet:100996)
Autosomal recessive spastic paraplegia type 48 (Orphanet:306511)
Bothnia retinal dystrophy (Orphanet:85128)
CLN1 disease (Orphanet:228329)
CLN3 disease (Orphanet:228346)
CONE-ROD DYSTROPHY 10 (OMIM:610283)
CONE-ROD DYSTROPHY 11 (OMIM:610381)
CONE-ROD DYSTROPHY 13 (OMIM:608194)
CONE-ROD DYSTROPHY 5 (OMIM:600977)
CONE-ROD DYSTROPHY 8 (OMIM:605549)
Cerebro-facio-thoracic dysplasia (Orphanet:1394)
MACULAR DEGENERATION, AGE-RELATED, 13 (OMIM:615439)
MACULAR DEGENERATION, AGE-RELATED, 3 (OMIM:608895)
MACULAR DEGENERATION, AGE-RELATED, 6 (OMIM:613757)
MACULAR DEGENERATION, EARLY-ONSET (OMIM:616118)
MACULAR DEGENERATION, X-LINKED ATROPHIC (OMIM:300834)
MELAS (Orphanet:550)
Maternally-inherited diabetes and deafness (Orphanet:225)
PSEUDOXANTHOMA ELASTICUM, FORME FRUSTEPSEUDOXANTHOMA ELASTICUM, HETEROZYGOUS, INCLUDED (OMIM:177850)
Pseudoxanthoma elasticum (Orphanet:758)
RETINITIS PIGMENTOSA 36 (OMIM:610599)
RETINITIS PIGMENTOSA 41 (OMIM:612095)
RETINITIS PIGMENTOSA 45 (OMIM:613767)
Renal coloboma syndrome (Orphanet:1475)
Retinitis pigmentosa 10 (OMIM:180105)
STARGARDT DISEASE 1 (OMIM:248200)
STARGARDT DISEASE 4 (OMIM:603786)
STARGARDT MACULAR DEGENERATION, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM,MENTAL RETARDATION, AND DYSMORPHIC FEATURES (OMIM:612948)
Senior-Loken syndrome 9 (OMIM:616629)
Sjögren-Larsson syndrome (Orphanet:816)
Spinocerebellar ataxia type 7 (Orphanet:94147)
Stargardt disease (Orphanet:827)
Thiamine-responsive megaloblastic anemia syndrome (Orphanet:49827)
[DEL] PSEUDOXANTHOMA ELASTICUM (OMIM:264800)