Pigmentary retinopathy
Symptom Information:
Symptom ID: | HPO:0000580 | |||||||
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) Pigmentary retinopathy(HPO:0000580) MedDRA: |
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Database Frequency: | 49 / 7739 | |||||||
Resource: |
All diseases associated with this symptom:
ALPHA-METHYLACYL-CoA RACEMASE DEFICIENCY | (OMIM:614307) |
ATP-BINDING CASSETTE, SUBFAMILY D, MEMBER 3 | (OMIM:170995) |
Alström syndrome | (Orphanet:64) |
Autosomal recessive spastic paraplegia type 15 | (Orphanet:100996) |
Autosomal recessive spastic paraplegia type 48 | (Orphanet:306511) |
CLN7 disease | (Orphanet:228366) |
COCKAYNE SYNDROME A | (OMIM:216400) |
COCKAYNE SYNDROME B | (OMIM:133540) |
Cholestasis - pigmentary retinopathy - cleft palate | (Orphanet:1415) |
Cockayne syndrome | (Orphanet:191) |
Glutathione synthetase deficiency with 5-oxoprolinuria | (Orphanet:289846) |
Isolated cytochrome C oxidase deficiency | (Orphanet:254905) |
Isolated succinate-CoQ reductase deficiency | (Orphanet:3208) |
Joubert syndrome 3 | (OMIM:608629) |
Joubert syndrome with ocular defect | (Orphanet:220493) |
Kearns-Sayre syndrome | (Orphanet:480) |
Laurence-Moon syndrome | (Orphanet:2377) |
Leber congenital amaurosis 1 | (OMIM:204000) |
Leber congenital amaurosis 15 | (OMIM:613843) |
Leber congenital amaurosis 2 | (OMIM:204100) |
Leigh syndrome | (Orphanet:506) |
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency | (Orphanet:5) |
MELAS | (Orphanet:550) |
MICROPHTHALMIA, SYNDROMIC 7 | (OMIM:309801) |
MRCS syndrome | (Orphanet:263347) |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),TYPE B, 2 | (OMIM:613156) |
Methylmalonic acidemia with homocystinuria, type cblC | (Orphanet:79282) |
Mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency | (Orphanet:1194) |
Mitochondrial trifunctional protein deficiency | (Orphanet:746) |
Mulibrey nanism | (Orphanet:2576) |
PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATIONSYNDROME | (OMIM:606721) |
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) | (OMIM:214100) |
PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER) | (OMIM:214110) |
PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER) | (OMIM:614866) |
Pantothenate kinase-associated neurodegeneration | (Orphanet:157850) |
Peroxisomal acyl-CoA oxidase deficiency | (Orphanet:2971) |
RETINITIS PIGMENTOSA 2 | (OMIM:312600) |
RETINITIS PIGMENTOSA 37 | (OMIM:611131) |
RETINITIS PIGMENTOSA 4 | (OMIM:613731) |
RETINITIS PIGMENTOSA 43 | (OMIM:613810) |
RETINITIS PIGMENTOSA 6 | (OMIM:312612) |
RETINITIS PIGMENTOSA 69 | (OMIM:615780) |
RETINOPATHY, PERICENTRAL PIGMENTARY, AUTOSOMAL RECESSIVE | (OMIM:268060) |
Ramon syndrome | (Orphanet:3019) |
Retinitis pigmentosa - intellectual deficit - deafness - hypogenitalism | (Orphanet:3085) |
Sporadic Leigh syndrome | (Orphanet:255199) |
Wolfram syndrome 1 | (OMIM:222300) |
Xeroderma pigmentosum complementation group B | (Orphanet:276252) |
Zellweger syndrome | (Orphanet:912) |