Blindness
Symptom Information:
Symptom ID: | HPO:0000618 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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 physiology(HPO:0012373) Abnormality of vision(HPO:0000504) Visual impairment(HPO:0000505) Blindness(HPO:0000618) MedDRA: Eye disorders(MedDRA:10015919) Vision disorders(MedDRA:10047518) Visual loss(HPO:0000572) Blindness(HPO:0000618) Visual disorders NEC(MedDRA:10047541) Blindness(HPO:0000618) Visual loss(HPO:0000572) Blindness(HPO:0000618) Blindness(HPO:0000618) Nervous system disorders(MedDRA:10029205) Neurological disorders of the eye(MedDRA:10029301) Neurologic visual problems NEC(MedDRA:10029292) Blindness(HPO:0000618) Visual loss(HPO:0000572) Blindness(HPO:0000618) |
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Database Frequency: | 124 / 7739 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Resource: |
All diseases associated with this symptom:
ACHROMATOPSIA 3 | (OMIM:262300) |
AMYLOIDOSIS OF GINGIVA AND CONJUNCTIVA, WITH MENTAL RETARDATION | (OMIM:204850) |
ARIMA SYNDROME | (OMIM:243910) |
AXENFELD-RIEGER SYNDROME, TYPE 2 | (OMIM:601499) |
Achromatopsia | (Orphanet:49382) |
Alpers syndrome | (Orphanet:726) |
Alström syndrome | (Orphanet:64) |
Autosomal dominant neovascular inflammatory vitreoretinopathy | (Orphanet:329211) |
Autosomal dominant optic atrophy plus syndrome | (Orphanet:1215) |
Autosomal recessive cerebellar ataxia - blindness - deafness | (Orphanet:95433) |
Autosomal recessive deafness-onychodystrophy syndrome | (Orphanet:79500) |
Autosomal recessive malignant osteopetrosis | (Orphanet:667) |
BRITTLE CORNEA SYNDROME 1 | (OMIM:229200) |
BROWN-VIALETTO-VAN LAERE SYNDROME 2 | (OMIM:614707) |
Bardet-Biedl syndrome 17 | (OMIM:615994) |
Bifunctional enzyme deficiency | (Orphanet:300) |
Biotinidase deficiency | (Orphanet:79241) |
Buschke-Ollendorff syndrome | (Orphanet:1306) |
CACH syndrome | (Orphanet:135) |
CADASIL | (Orphanet:136) |
CATARACT, CONGENITAL, WITH MENTAL IMPAIRMENT AND DENTATE GYRUS ATROPHY | (OMIM:607674) |
CEREBELLAR ATAXIA, AREFLEXIA, PES CAVUS, OPTIC ATROPHY, AND SENSORINEURALHEARING LOSS | (OMIM:601338) |
CEREBRAL SCLEROSIS, DIFFUSE, SCHOLZ TYPE | (OMIM:302700) |
CLN1 disease | (Orphanet:228329) |
CLN3 disease | (Orphanet:228346) |
CLN7 disease | (Orphanet:228366) |
COENZYME Q10 DEFICIENCY, PRIMARY, 1 | (OMIM:607426) |
Canavan disease | (Orphanet:141) |
Cerebroretinal vasculopathy | (Orphanet:3421) |
Coats plus syndrome | (Orphanet:313838) |
Combined oxidative phosphorylation defect type 14 | (Orphanet:319519) |
Cone rod dystrophy | (Orphanet:1872) |
Cushing disease | (Orphanet:96253) |
Dermatoosteolysis, Kirghizian type | (Orphanet:1657) |
Diabetic embryopathy | (Orphanet:1926) |
Dysosteosclerosis | (Orphanet:1782) |
EXUDATIVE VITREORETINOPATHY 4 | (OMIM:601813) |
Ectodermal dysplasia - blindness | (Orphanet:1806) |
Ehlers-Danlos syndrome, kyphoscoliotic type | (Orphanet:1900) |
Familial exudative vitreoretinopathy | (Orphanet:891) |
Fibrous dysplasia of bone | (Orphanet:249) |
Fraser syndrome | (Orphanet:2052) |
GM2-gangliosidosis, AB variant | (Orphanet:309246) |
Giant cell arteritis | (Orphanet:397) |
Glaucoma - ectopia - microspherophakia - stiff joints - short stature | (Orphanet:2084) |
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency | (Orphanet:713) |
Gyrate atrophy of choroid and retina | (Orphanet:414) |
HERNS syndrome | (Orphanet:63261) |
Hereditary mucoepithelial dysplasia | (Orphanet:1839) |
Hereditary vascular retinopathy | (Orphanet:71291) |
Hypoplasminogenemia | (Orphanet:722) |
Hypotrichosis with juvenile macular degeneration | (Orphanet:1573) |
Insulin-resistance syndrome type A | (Orphanet:2297) |
Isolated NADH-CoQ reductase deficiency | (Orphanet:2609) |
Joubert syndrome 6 | (OMIM:610688) |
Joubert syndrome with oculorenal defect | (Orphanet:2318) |
KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL DOMINANT | (OMIM:148210) |
KID syndrome | (Orphanet:477) |
KRABBE DISEASE | (OMIM:245200) |
Krabbe disease | (Orphanet:487) |
LCAT deficiency | (Orphanet:650) |
Leber congenital amaurosis 1 | (OMIM:204000) |
Leber congenital amaurosis 10 | (OMIM:611755) |
Leber congenital amaurosis 11 | (OMIM:613837) |
Leber congenital amaurosis 2 | (OMIM:204100) |
Leber hereditary optic neuropathy | (Orphanet:104) |
Leber plus disease | (Orphanet:99718) |
Leigh syndrome | (Orphanet:506) |
Ligneous conjunctivitis | (Orphanet:97231) |
MENTAL RETARDATION, KERATOCONUS, FEBRILE SEIZURES, AND SINOATRIALBLOCK | (OMIM:609438) |
MICROPHTHALMIA, SYNDROMIC 1 | (OMIM:309800) |
MIGRAINE, FAMILIAL HEMIPLEGIC, 3 | (OMIM:609634) |
MOMO syndrome | (Orphanet:2563) |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 1 | (OMIM:236670) |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 11 | (OMIM:615181) |
MUSK, INABILITY TO SMELL | (OMIM:254150) |
Maternally-inherited diabetes and deafness | (Orphanet:225) |
McCune-Albright syndrome | (Orphanet:562) |
Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus | (Orphanet:83473) |
Methylcobalamin deficiency type cblE | (Orphanet:2169) |
Methylcobalamin deficiency type cblG | (Orphanet:2170) |
Microphthalmia with brain and digit anomalies | (Orphanet:139471) |
Muscle-eye-brain disease | (Orphanet:588) |
NARP syndrome | (Orphanet:644) |
Necrotizing encephalomyelopathy, subacute, of Leigh, adult | (OMIM:161700) |
Nephronophthisis 15 | (OMIM:614845) |
Norrie disease | (Orphanet:649) |
OPTIC ATROPHY, HEARING LOSS, AND PERIPHERAL NEUROPATHY, AUTOSOMALRECESSIVE | (OMIM:258650) |
OPTICOACOUSTIC NERVE ATROPHY WITH DEMENTIA | (OMIM:311150) |
OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1 | (OMIM:259700) |
OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2 | (OMIM:259710) |
Oculofaciocardiodental syndrome | (Orphanet:2712) |
Ophthalmomandibulomelic dysplasia | (Orphanet:2741) |
Osteoporosis - pseudoglioma | (Orphanet:2788) |
PALLIDAL DEGENERATION, PROGRESSIVE, WITH RETINITIS PIGMENTOSA | (OMIM:260200) |
POLYCYSTIC KIDNEY, CATARACT, AND CONGENITAL BLINDNESS | (OMIM:263100) |
Papillary fibroelastoma of the heart | (Orphanet:208600) |
Pierson syndrome | (Orphanet:2670) |
Polyostotic fibrous dysplasia | (Orphanet:93276) |
Posterior column ataxia - retinitis pigmentosa | (Orphanet:88628) |
Progressive myoclonic epilepsy type 3 | (Orphanet:263516) |
Proximal tubulopathy - diabetes mellitus - cerebellar ataxia | (Orphanet:3390) |
RETINITIS PIGMENTOSA 35 | (OMIM:610282) |
RETINOPATHY, PERICENTRAL PIGMENTARY, DOMINANT | (OMIM:180210) |
Renpenning syndrome | (Orphanet:3242) |
Retinitis pigmentosa 10 | (OMIM:180105) |
Retinopathy of prematurity | (Orphanet:90050) |
SCLEROSTEOSIS 1 | (OMIM:269500) |
STICKLER SYNDROME, TYPE I | (OMIM:108300) |
Sandhoff disease, infantile form | (Orphanet:309155) |
Senior-Loken syndrome 5 | (OMIM:609254) |
Severe X-linked intellectual deficit, Gustavson type | (Orphanet:3078) |
Stickler syndrome | (Orphanet:828) |
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE | (OMIM:614514) |
Tay-Sachs disease | (Orphanet:845) |
Thiamine-responsive megaloblastic anemia syndrome | (Orphanet:49827) |
Tyrosinemia type 2 | (Orphanet:28378) |
WEILL-MARCHESANI SYNDROME 1 | (OMIM:277600) |
Weill-Marchesani syndrome | (Orphanet:3449) |
Wolfram syndrome, mitochondrial form | (OMIM:598500) |
X-linked cerebral adrenoleukodystrophy | (Orphanet:139396) |
XYLOSIDASE DEFICIENCY | (OMIM:278900) |
[DEL] LEBER OPTIC ATROPHY | (OMIM:535000) |
[DEL] PSEUDOXANTHOMA ELASTICUM | (OMIM:264800) |