Retinal degeneration
Symptom Information:
| Symptom ID: | HPO:0000546 | ||||
| Synonyms: |
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| Cross references: |
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| Is a (Direct Parents): |
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| 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) Retinal degeneration(HPO:0000546) MedDRA: Eye disorders(MedDRA:10015919) Ocular structural change, deposit and degeneration NEC(MedDRA:10042261) Retinal structural change, deposit and degeneration(MedDRA:10038896) Retinal degeneration(HPO:0000546) |
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| Database Frequency: | 61 / 7739 | ||||
| Resource: |
All diseases associated with this symptom:
| Aceruloplasminemia | (Orphanet:48818) |
| Alström syndrome | (Orphanet:64) |
| Autosomal recessive cerebellar ataxia - epilepsy - intellectual deficit | (Orphanet:284282) |
| Autosomal recessive spastic paraplegia type 11 | (Orphanet:2822) |
| Autosomal recessive spastic paraplegia type 15 | (Orphanet:100996) |
| Autosomal recessive spastic paraplegia type 55 | (Orphanet:320375) |
| Bardet-Biedl syndrome | (Orphanet:110) |
| Bardet-Biedl syndrome 17 | (OMIM:615994) |
| Bardet-Biedl syndrome 4 | (OMIM:615982) |
| Bardet-Biedl syndrome 7 | (OMIM:615984) |
| Bietti crystalline dystrophy | (Orphanet:41751) |
| Bonnemann-Meinecke-Reich syndrome | (Orphanet:1261) |
| CHOLESTASIS WITH GALLSTONE, ATAXIA, AND VISUAL DISTURBANCE | (OMIM:214980) |
| CLN1 disease | (Orphanet:228329) |
| CLN2 disease | (Orphanet:228349) |
| CLN5 disease | (Orphanet:228360) |
| CLN6 disease | (Orphanet:228363) |
| COCKAYNE SYNDROME, TYPE III | (OMIM:216411) |
| EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28 | (OMIM:616211) |
| HYPOBETALIPOPROTEINEMIA, FAMILIAL, 1 | (OMIM:615558) |
| Hurler syndrome | (Orphanet:93473) |
| Hurler-Scheie syndrome | (Orphanet:93476) |
| Hyperleucine-isoleucinemia | (OMIM:238340) |
| Jeune syndrome | (Orphanet:474) |
| Joubert syndrome 5 | (OMIM:610188) |
| Joubert syndrome 6 | (OMIM:610688) |
| Juvenile Paget disease | (Orphanet:2801) |
| Late infantile neuronal ceroid lipofuscinosis | (Orphanet:168491) |
| Late-onset retinal degeneration | (Orphanet:67042) |
| Leber congenital amaurosis 15 | (OMIM:613843) |
| MICROPHTHALMIA WITH HYPEROPIA, RETINAL DEGENERATION, MACROPHAKIA,AND DENTAL ANOMALIES | (OMIM:251700) |
| MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 12 | (OMIM:615249) |
| MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 3 | (OMIM:253280) |
| Maternally-inherited diabetes and deafness | (Orphanet:225) |
| Mucolipidosis type 3 | (Orphanet:577) |
| Mucopolysaccharidosis type 1 | (Orphanet:579) |
| Mucopolysaccharidosis type 2 | (Orphanet:580) |
| Multiple sulfatase deficiency | (Orphanet:585) |
| Nephronophthisis 14 | (OMIM:614844) |
| Nephronophthisis 15 | (OMIM:614845) |
| Nephronophthisis 18 | (OMIM:615862) |
| Nephronophthisis 3 | (OMIM:604387) |
| OCULORENOCEREBELLAR SYNDROME | (OMIM:257970) |
| OPHTHALMOPLEGIA, EXTERNAL, AND MYOPIA | (OMIM:311000) |
| Pantothenate kinase-associated neurodegeneration | (Orphanet:157850) |
| RETINAL DEGENERATION AND EPILEPSY | (OMIM:267740) |
| RETINITIS PIGMENTOSA 13 | (OMIM:600059) |
| RETINITIS PIGMENTOSA 70 | (OMIM:615922) |
| Refsum disease | (Orphanet:773) |
| Retinal degeneration - nanophthalmos - glaucoma | (Orphanet:1574) |
| Scheie syndrome | (Orphanet:93474) |
| Senior-Boichis syndrome | (Orphanet:84081) |
| Senior-Loken syndrome 7 | (OMIM:613615) |
| Senior-Loken syndrome 9 | (OMIM:616629) |
| Short chain 3-hydroxyacyl-CoA dehydrogenase deficiency | (Orphanet:35123) |
| Short-rib thoracic dysplasia 1 with or without polydactyly | (OMIM:208500) |
| Short-rib thoracic dysplasia 10 with or without polydactyly | (OMIM:615630) |
| Short-rib thoracic dysplasia 4 with or without polydactyly | (OMIM:613819) |
| Thiamine-responsive megaloblastic anemia syndrome | (Orphanet:49827) |
| Werner syndrome | (Orphanet:902) |
| X-linked retinoschisis | (Orphanet:792) |