Visual loss

Symptom Information:

Symptom ID: HPO:0000572
Synonyms:
Loss of vision [HPO:0000572]
Dim vision (disorder) [Orphanet:5450]
Visual impairment (disorder) [Orphanet:5450]
Visual impairment [Orphanet:5450]
Blind Vision [Orphanet:5450]
Loss of vision [OMIM:Loss of vision]
Visual loss [OMIM:Visual loss]
Visual loss/blindness/amblyopia [Orphanet:5450]
Blindness [Orphanet:5450]
Visual impairment [MedDRA:10047571]
Abnormal retinal correspondence [MedDRA:10047571]
Abnormal vision [MedDRA:10047571]
Abnormal vision NOS [MedDRA:10047571]
After images [MedDRA:10047571]
Aphose [MedDRA:10047571]
Binocular vision disorder, unspecified [MedDRA:10047571]
Disorder sight [MedDRA:10047571]
Fusion with defective stereopsis [MedDRA:10047571]
Increasing visual impairment [MedDRA:10047571]
Near vision disturbance [MedDRA:10047571]
Other disorders of binocular vision [MedDRA:10047571]
Other specified visual disturbances [MedDRA:10047571]
Other visual distortions and entoptic phenomena [MedDRA:10047571]
Psychophysical visual disturbances [MedDRA:10047571]
Simultaneous visual perception without fusion [MedDRA:10047571]
Spots before eyes [MedDRA:10047571]
Subjective visual disturbance, unspecified [MedDRA:10047571]
Subjective visual disturbances [MedDRA:10047571]
Suppression of binocular vision [MedDRA:10047571]
Unspecified visual disturbance [MedDRA:10047571]
Vision abnormal [MedDRA:10047571]
Vision abnormal aggravated [MedDRA:10047571]
Vision abnormal NOS [MedDRA:10047571]
Vision abnormal NOS exacerbated [MedDRA:10047571]
Vision dim [MedDRA:10047571]
Visual distortions of shape and size [MedDRA:10047571]
Visual disturbance [MedDRA:10047571]
Visual disturbance NOS [MedDRA:10047571]
Visual disturbances [MedDRA:10047571]
Visual disturbances subjective [MedDRA:10047571]
Visual phenomena [MedDRA:10047571]
Bilateral abnormal vision [MedDRA:10047571]
Unilateral abnormal vision [MedDRA:10047571]
Dysopia [MedDRA:10047571]
Visual impairment transient [MedDRA:10047571]
Blindness [MedDRA:10005169]
Better eye: moderate vision impairment
lesser eye: blind, not further specified [MedDRA:10005169]
Better eye: moderate vision impairment
lesser eye: impairment not further specified [MedDRA:10005169]
Better eye: moderate vision impairment
lesser eye: near-total vision impairment [MedDRA:10005169]
Better eye: moderate vision impairment
lesser eye: profound vision impairment [MedDRA:10005169]
Better eye: moderate vision impairment
lesser eye: severe vision impairment [MedDRA:10005169]
Better eye: moderate vision impairment
lesser eye: total vision impairment [MedDRA:10005169]
Better eye: moderate vision impairment
unqualified visual loss, both eyes [MedDRA:10005169]
Better eye: near-total vision impairment
lesser eye: near-total vision impairment [MedDRA:10005169]
Better eye: near-total vision impairment
lesser eye: not further specified [MedDRA:10005169]
Better eye: near-total vision impairment
lesser eye: total vision impairment [MedDRA:10005169]
Better eye: profound vision impairment
lesser eye: near-total vision impairment [MedDRA:10005169]
Better eye: profound vision impairment
lesser eye: not further specified [MedDRA:10005169]
Better eye: profound vision impairment
lesser eye: profound vision impairment [MedDRA:10005169]
Better eye: profound vision impairment
lesser eye: total vision impairment [MedDRA:10005169]
Better eye: severe vision impairment
lesser eye: blind, not further specified [MedDRA:10005169]
Better eye: severe vision impairment
lesser eye: near-total vision impairment [MedDRA:10005169]
Better eye: severe vision impairment
lesser eye: profound vision impairment [MedDRA:10005169]
Better eye: severe vision impairment
lesser eye: severe vision impairment [MedDRA:10005169]
Better eye: severe vision impairment
lesser eye: total vision impairment [MedDRA:10005169]
Better eye: severe vision impairment
lesser eye
impairment not further specified [MedDRA:10005169]
Better eye: total vision impairment
lesser eye: total vision impairment [MedDRA:10005169]
Better eye:moderate vision impairment
lesser eye:moderate vision impairment [MedDRA:10005169]
Bilateral blindness [MedDRA:10005169]
Blind [MedDRA:10005169]
Blind both eyes [MedDRA:10005169]
Blind hypertensive eye [MedDRA:10005169]
Blind hypotensive eye [MedDRA:10005169]
Blindness and low vision [MedDRA:10005169]
Blindness NOS [MedDRA:10005169]
Blindness of both eyes, impairment level not further specified [MedDRA:10005169]
Blindness, both eyes [MedDRA:10005169]
Blindness, one eye, low vision other eye [MedDRA:10005169]
Blindness, one eye
low vision other eye [MedDRA:10005169]
Impairment level not further specified [MedDRA:10005169]
Legal blindness, as defined in U.S.A. [MedDRA:10005169]
Loss of vision [MedDRA:10005169]
Moderate or severe vision impairment, better eye
profound vision impairment of lesser eye [MedDRA:10005169]
Moderate or severe vision impairment, both eyes [MedDRA:10005169]
Moderate or severe vision impairment, both eyes, impairment level not further specified [MedDRA:10005169]
One eye: near-total vision impairment
other eye: near-normal vision [MedDRA:10005169]
One eye: near-total vision impairment
other eye: normal vision [MedDRA:10005169]
One eye: near-total vision impairment
other eye: vision not specified [MedDRA:10005169]
One eye: profound vision impairment
other eye: near-normal vision [MedDRA:10005169]
One eye: profound vision impairment
other eye: normal vision [MedDRA:10005169]
One eye: profound vision impairment
other eye: vision not specified [MedDRA:10005169]
One eye: severe vision impairment
other eye: near-normal vision [MedDRA:10005169]
One eye: severe vision impairment
other eye: normal vision [MedDRA:10005169]
One eye: severe vision impairment
other eye: vision not specified [MedDRA:10005169]
One eye: total vision impairment
other eye: near-normal vision [MedDRA:10005169]
One eye: total vision impairment
other eye: normal vision [MedDRA:10005169]
One eye: total vision impairment
other eye: not specified [MedDRA:10005169]
Profound vision impairment, both eyes [MedDRA:10005169]
Unqualified visual loss, both eyes [MedDRA:10005169]
Unspecified visual loss [MedDRA:10005169]
Vision impairment of lesser eye [MedDRA:10005169]
Vision loss [MedDRA:10005169]
Blindness impairment level not further specified [MedDRA:10005169]
No light perception [MedDRA:10005169]
Blindness (6 to 14 years) [OMIM:Blindness (6 to 14 years)]
Blindness (WWS) [OMIM:Blindness (WWS)]
Blindness (in some patients) [OMIM:Blindness (in some patients)]
Blindness (onset in fourth or fifth decade) [OMIM:Blindness (onset in fourth or fifth decade)]
Blindness (onset in infancy) [OMIM:Blindness (onset in infancy)]
Blindness (rare) [OMIM:Blindness (rare)]
Loss of vision (34%) [OMIM:Loss of vision (34%)]
Loss of vision (rare) [OMIM:Loss of vision (rare)]
Vision loss [OMIM:Vision loss]
Vision loss (chronic phase) [OMIM:Vision loss (chronic phase)]
Visual disturbances [OMIM:Visual disturbances]
Visual impairment (50-70% of patients) [OMIM:Visual impairment (50-70% of patients)]
Visual impairment (55%) [OMIM:Visual impairment (55%)]
Visual impairment (childhood-onset) [OMIM:Visual impairment (childhood-onset)]
Visual impairment (rare) [OMIM:Visual impairment (rare)]
Visual loss (in 1 family) [OMIM:Visual loss (in 1 family)]
Visual loss (in some patients) [OMIM:Visual loss (in some patients)]
Blindness (excl colour blindness) [MedDRA:10005170]
Quality:
Cross references:
HPO:0000618 "Blindness" [Orphanet:5450]
Orphanet:5450 "Visual loss/blindness/amblyopia" [Orphanet:5450]
OMIM: "Loss of vision" [OMIM:Loss of vision]
OMIM: "Visual loss" [OMIM:Visual loss]
OMIM: "Blindness (6 to 14 years)" [OMIM:Blindness (6 to 14 years)]
OMIM: "Blindness (WWS)" [OMIM:Blindness (WWS)]
OMIM: "Blindness (in some patients)" [OMIM:Blindness (in some patients)]
OMIM: "Blindness (onset in fourth or fifth decade)" [OMIM:Blindness (onset in fourth or fifth decade)]
OMIM: "Blindness (onset in infancy)" [OMIM:Blindness (onset in infancy)]
OMIM: "Blindness (rare)" [OMIM:Blindness (rare)]
OMIM: "Loss of vision (34%)" [OMIM:Loss of vision (34%)]
OMIM: "Loss of vision (rare)" [OMIM:Loss of vision (rare)]
OMIM: "Vision loss" [OMIM:Vision loss]
OMIM: "Vision loss (chronic phase)" [OMIM:Vision loss (chronic phase)]
OMIM: "Visual disturbances" [OMIM:Visual disturbances]
OMIM: "Visual impairment (50-70% of patients)" [OMIM:Visual impairment (50-70% of patients)]
OMIM: "Visual impairment (55%)" [OMIM:Visual impairment (55%)]
OMIM: "Visual impairment (childhood-onset)" [OMIM:Visual impairment (childhood-onset)]
OMIM: "Visual impairment (rare)" [OMIM:Visual impairment (rare)]
OMIM: "Visual loss (in 1 family)" [OMIM:Visual loss (in 1 family)]
OMIM: "Visual loss (in some patients)" [OMIM:Visual loss (in some patients)]
UMLS:C0042798 "Visual impairment" [Orphanet:5450]
UMLS:C0456909 "Blind Vision" [Orphanet:5450]
Is a (Direct Parents):
Orphanet Abnormality of the eye
MedDRA Vision disorders
MedDRA Visual disorders NEC
HPO         Visual impairment
MedDRA Neurologic visual problems NEC
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)
                   Visual loss(HPO:0000572)
MedDRA:
Eye disorders(MedDRA:10015919)
    Vision disorders(MedDRA:10047518)
       Visual disorders NEC(MedDRA:10047541)
          Visual loss(HPO:0000572)
       Visual loss(HPO:0000572)
Nervous system disorders(MedDRA:10029205)
    Neurological disorders of the eye(MedDRA:10029301)
       Neurologic visual problems NEC(MedDRA:10029292)
          Visual loss(HPO:0000572)
Database Frequency: 272 / 7739
Resource:

All diseases associated with this symptom:

16q24.3 microdeletion syndrome (Orphanet:261250)
1p36 deletion syndrome (Orphanet:1606)
2p15p16.1 microdeletion syndrome (Orphanet:261349)
Abetalipoproteinemia (Orphanet:14)
Ablepharon macrostomia syndrome (Orphanet:920)
Absence deformity of leg - cataract (Orphanet:2310)
Acro-renal-ocular syndrome (Orphanet:959)
Acrodermatitis enteropathica, zinc deficiency type (Orphanet:37)
Adrenomyeloneuropathy (Orphanet:139399)
Adult neuronal ceroid lipofuscinosis (Orphanet:79262)
Adult-onset autosomal dominant leukodystrophy (Orphanet:99027)
Adult-onset foveomacular vitelliform dystrophy (Orphanet:99000)
Albers-Schönberg osteopetrosis (Orphanet:53)
Albright hereditary osteodystrophy (Orphanet:665)
Alpers syndrome (Orphanet:726)
Alpha-N-acetylgalactosaminidase deficiency (Orphanet:3137)
Alpha-N-acetylgalactosaminidase deficiency type 1 (Orphanet:79279)
Alpha-thalassemia - X-linked intellectual deficit syndrome (Orphanet:847)
Alström syndrome (Orphanet:64)
Alveolar echinococcosis (Orphanet:284)
Amaurosis - hypertrichosis (Orphanet:1021)
Amish infantile epilepsy syndrome (Orphanet:171714)
Aniridia (Orphanet:77)
Anophthalmia/microphthalmia - esophageal atresia (Orphanet:77298)
Apert syndrome (Orphanet:87)
Ascher syndrome (Orphanet:1253)
Ataxia - tapetoretinal degeneration (Orphanet:1178)
Ataxia with vitamin E deficiency (Orphanet:96)
Auriculoocular anomalies - cleft lip (Orphanet:71270)
Autosomal dominant optic atrophy plus syndrome (Orphanet:1215)
Autosomal recessive Stickler syndrome (Orphanet:250984)
Autosomal recessive chorioretinopathy-microcephaly (Orphanet:2518)
Autosomal recessive malignant osteopetrosis (Orphanet:667)
BRITTLE CORNEA SYNDROME 1 (OMIM:229200)
BROWN-VIALETTO-VAN LAERE SYNDROME 2 (OMIM:614707)
Bannayan-Riley-Ruvalcaba syndrome (Orphanet:109)
Behr syndrome (Orphanet:1239)
Behçet disease (Orphanet:117)
Bencze syndrome (Orphanet:1241)
Bifunctional enzyme deficiency (Orphanet:300)
Biotinidase deficiency (Orphanet:79241)
Blau syndrome (Orphanet:90340)
Blepharophimosis-intellectual deficit syndrome, Ohdo type (Orphanet:2728)
Brittle cornea syndrome (Orphanet:90354)
Buschke-Ollendorff syndrome (Orphanet:1306)
CADASIL (Orphanet:136)
CEREBELLAR ATAXIA, AREFLEXIA, PES CAVUS, OPTIC ATROPHY, AND SENSORINEURALHEARING LOSS (OMIM:601338)
CHARGE syndrome (Orphanet:138)
CINCA syndrome (Orphanet:1451)
CLN3 disease (Orphanet:228346)
CLN7 disease (Orphanet:228366)
COENZYME Q10 DEFICIENCY, PRIMARY, 1 (OMIM:607426)
COFS syndrome (Orphanet:1466)
CONE DYSTROPHY, X-LINKED, WITH TAPETAL-LIKE SHEEN (OMIM:304030)
CONE-ROD DYSTROPHY 3 (OMIM:604116)
Canavan disease (Orphanet:141)
Cartilage-hair hypoplasia (Orphanet:175)
Cataract - ataxia - deafness (Orphanet:1368)
Cerebellar hypoplasia - tapetoretinal degeneration (Orphanet:2246)
Cerebro-oculo-nasal syndrome (Orphanet:66625)
Cerebro-reno-digital syndrome (Orphanet:1396)
Cerebroretinal vasculopathy (Orphanet:3421)
Cherubism (Orphanet:184)
Choroideremia (Orphanet:180)
Chédiak-Higashi syndrome (Orphanet:167)
Classical homocystinuria (Orphanet:394)
Cleft lip - retinopathy (Orphanet:1995)
Coats disease (Orphanet:190)
Combined oxidative phosphorylation defect type 14 (Orphanet:319519)
Congenital neuronal ceroid lipofuscinosis (Orphanet:168486)
Congenital rubella syndrome (Orphanet:290)
Congenital toxoplasmosis (Orphanet:858)
Corneal anesthesia - deafness - intellectual deficit (Orphanet:1051)
Corneal dystrophy - perceptive deafness (Orphanet:1490)
Corneal-cerebellar syndrome (Orphanet:3177)
Cortical blindness - intellectual deficit - polydactyly (Orphanet:1389)
Craniometaphyseal dysplasia (Orphanet:1522)
Craniotelencephalic dysplasia (Orphanet:1528)
Crouzon disease (Orphanet:207)
Crouzon syndrome - acanthosis nigricans (Orphanet:93262)
Cushing disease (Orphanet:96253)
Deafness - lymphedema - leukemia (Orphanet:3226)
Developmental malformations - deafness - dystonia (Orphanet:79107)
Donnai-Barrow syndrome (Orphanet:2143)
Duane anomaly - myopathy - scoliosis (Orphanet:50817)
Duane retraction syndrome (Orphanet:233)
Early-onset non-syndromic cataract (Orphanet:217052)
Early-onset progressive neurodegeneration - blindness - ataxia - spasticity (Orphanet:352654)
Ectodermal dysplasia - blindness (Orphanet:1806)
Ectodermal dysplasia syndrome (Orphanet:79373)
Ehlers-Danlos syndrome, kyphoscoliotic type (Orphanet:1900)
Embryofetopathy due to oral anticoagulant therapy (Orphanet:1914)
Fanconi anemia (Orphanet:84)
Fetal methylmercury syndrome (Orphanet:1917)
Fine-Lubinsky syndrome (Orphanet:1272)
Fish-eye disease (Orphanet:79292)
Flynn-Aird syndrome (Orphanet:2047)
Fraser syndrome (Orphanet:2052)
GAPO syndrome (Orphanet:2067)
GM1 gangliosidosis (Orphanet:354)
Giant cell arteritis (Orphanet:397)
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency (Orphanet:713)
Goldenhar syndrome (Orphanet:374)
Gorlin syndrome (Orphanet:377)
Granulomatosis with polyangiitis (Orphanet:900)
Gyrate atrophy of choroid and retina (Orphanet:414)
Gómez-López-Hernández syndrome (Orphanet:1532)
HERNS syndrome (Orphanet:63261)
Hallermann-Streiff syndrome (Orphanet:2108)
Hepatic fibrosis - renal cysts - intellectual deficit (Orphanet:2031)
Hereditary hemorrhagic telangiectasia (Orphanet:774)
Hereditary vascular retinopathy (Orphanet:71291)
Hermansky-Pudlak syndrome (Orphanet:79430)
Homocystinuria without methylmalonic aciduria (Orphanet:622)
Hurler syndrome (Orphanet:93473)
Hydatidosis (Orphanet:400)
Hypernychthemeral syndrome (Orphanet:73267)
Hyposmia - nasal and ocular hypoplasia - hypogonadotropic hypogonadism (Orphanet:2250)
Hypotrichosis with juvenile macular degeneration (Orphanet:1573)
Incontinentia pigmenti (Orphanet:464)
Infantile neuroaxonal dystrophy (Orphanet:35069)
Infantile neuronal ceroid lipofuscinosis (Orphanet:79263)
Intellectual deficit, X-linked, Wittwer type (Orphanet:85291)
Intestinal lymphangiectasia (Orphanet:36204)
Isolated aniridia (Orphanet:250923)
Isolated ectopia lentis (Orphanet:1885)
Joubert syndrome with ocular defect (Orphanet:220493)
Joubert syndrome with oculorenal defect (Orphanet:2318)
Juvenile xanthogranuloma (Orphanet:158000)
KID syndrome (Orphanet:477)
Kallmann syndrome (Orphanet:478)
Karsch-Neugebauer syndrome (Orphanet:2329)
Knobloch syndrome (Orphanet:1571)
Krabbe disease (Orphanet:487)
LCAT deficiency (Orphanet:650)
LEBER OPTIC ATROPHY AND DYSTONIA (OMIM:500001)
Lacrimo-auriculo-dento-digital syndrome (Orphanet:2363)
Lafora disease (Orphanet:501)
Laryngeal abductor paralysis - intellectual deficit (Orphanet:2375)
Late-onset retinal degeneration (Orphanet:67042)
Leber congenital amaurosis (Orphanet:65)
Leber congenital amaurosis 3 (OMIM:604232)
Leber hereditary optic neuropathy (Orphanet:104)
Lethal ataxia with deafness and optic atrophy (Orphanet:1187)
Leukoencephalopathy - metaphyseal chondrodysplasia (Orphanet:83629)
Lowry-Wood syndrome (Orphanet:1824)
Lyell syndrome (Orphanet:537)
MELAS (Orphanet:550)
MENTAL RETARDATION, KERATOCONUS, FEBRILE SEIZURES, AND SINOATRIALBLOCK (OMIM:609438)
MMEP syndrome (Orphanet:3434)
MOMO syndrome (Orphanet:2563)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 1 (OMIM:236670)
Marfan syndrome (Orphanet:558)
Marshall syndrome (Orphanet:560)
Maternally-inherited diabetes and deafness (Orphanet:225)
Methylcobalamin deficiency type cblE (Orphanet:2169)
Methylcobalamin deficiency type cblG (Orphanet:2170)
Micro syndrome (Orphanet:2510)
Microcephaly - lymphedema - chorioretinopathy (Orphanet:2526)
Microcornea - glaucoma - absent frontal sinuses (Orphanet:2536)
Microphthalmia with linear skin defects syndrome (Orphanet:2556)
Microphthalmia, Lenz type (Orphanet:568)
Microspherophakia - metaphyseal dysplasia (Orphanet:2551)
Moebius syndrome (Orphanet:570)
Morning glory syndrome (Orphanet:35737)
Mucolipidosis type 3 (Orphanet:577)
Mucopolysaccharidosis type 1 (Orphanet:579)
Mucopolysaccharidosis type 6 (Orphanet:583)
Mucous membrane pemphigoid (Orphanet:46486)
Mycophenolate mofetil embryopathy (Orphanet:268249)
NARP syndrome (Orphanet:644)
Nance-Horan syndrome (Orphanet:627)
Necrotizing encephalomyelopathy, subacute, of Leigh, adult (OMIM:161700)
Neonatal adrenoleukodystrophy (Orphanet:44)
Nephronophthisis 15 (OMIM:614845)
Neuronal ceroid lipofuscinosis (Orphanet:216)
Non-polyposis Turcot syndrome (Orphanet:99817)
Norrie disease (Orphanet:649)
OPTIC ATROPHY, HEARING LOSS, AND PERIPHERAL NEUROPATHY, AUTOSOMALRECESSIVE (OMIM:258650)
OPTICOCOCHLEODENTATE DEGENERATION (OMIM:258700)
Occipital pachygyria and polymicrogyria (Orphanet:280640)
Oculo-palato-cerebral syndrome (Orphanet:2714)
Oculo-reno-cerebellar syndrome (Orphanet:2715)
Oculocerebrorenal syndrome (Orphanet:534)
Oculocutaneous albinism (Orphanet:55)
Oculodentodigital dysplasia (Orphanet:2710)
Oculofaciocardiodental syndrome (Orphanet:2712)
Ophthalmomandibulomelic dysplasia (Orphanet:2741)
Osteogenesis imperfecta (Orphanet:666)
Osteopetrosis (Orphanet:2781)
Osteopetrosis with renal tubular acidosis (Orphanet:2785)
Osteoporosis - macrocephaly - blindness - joint hyperlaxity (Orphanet:2787)
Osteoporosis - pseudoglioma (Orphanet:2788)
Osteosclerosis - developmental delay - craniosynostosis (Orphanet:178377)
PEHO syndrome (Orphanet:2836)
PEROXISOME BIOGENESIS DISORDER 11B (OMIM:614885)
Peters-plus syndrome (Orphanet:709)
Pfeiffer syndrome type 2 (Orphanet:93259)
Pfeiffer syndrome type 3 (Orphanet:93260)
Polyarteritis nodosa, childhood-onset (OMIM:615688)
Progeria - short stature - pigmented nevi (Orphanet:2959)
Progressive epilepsy-intellectual deficit, Finnish type (Orphanet:1947)
Progressive myoclonic epilepsy type 3 (Orphanet:263516)
Progressive myoclonic epilepsy with dystonia (Orphanet:352596)
Prolidase deficiency (Orphanet:742)
Proximal tubulopathy - diabetes mellitus - cerebellar ataxia (Orphanet:3390)
Pseudoxanthoma elasticum (Orphanet:758)
RETINOSCHISIS OF FOVEA (OMIM:268080)
Recessive dystrophic epidermolysis bullosa-generalized other (Orphanet:89842)
Refsum disease (Orphanet:773)
Renal coloboma syndrome (Orphanet:1475)
Renpenning syndrome (Orphanet:3242)
Retinal arterial tortuosity (Orphanet:75326)
Retinitis pigmentosa (Orphanet:791)
Retinitis pigmentosa - intellectual deficit - deafness - hypogenitalism (Orphanet:3085)
Retinitis pigmentosa 10 (OMIM:180105)
Retinohepatoendocrinologic syndrome (Orphanet:3087)
Riboflavin transporter deficiency (Orphanet:97229)
Rift valley fever (Orphanet:319251)
SCLEROSTEOSIS 1 (OMIM:269500)
SPASTIC PARAPLEGIA 57, AUTOSOMAL RECESSIVE (OMIM:615658)
SRD5A3-CDG (Orphanet:324737)
Saethre-Chotzen syndrome (Orphanet:794)
Saldino-Mainzer syndrome (Orphanet:140969)
Sandhoff disease (Orphanet:796)
Sclerosteosis (Orphanet:3152)
Senior-Loken syndrome (Orphanet:3156)
Senior-Loken syndrome 3 (OMIM:606995)
Septo-optic dysplasia (Orphanet:3157)
Severe Canavan disease (Orphanet:314911)
Severe X-linked intellectual deficit, Gustavson type (Orphanet:3078)
Severe generalized recessive dystrophic epidermolysis bullosa (Orphanet:79408)
Sialidosis type 1 (Orphanet:812)
Sneddon syndrome (Orphanet:820)
Spastic tetraplegia - retinitis pigmentosa - intellectual deficit (Orphanet:3011)
Spondylo-ocular syndrome (Orphanet:85194)
Spondylometaphyseal dysplasia - cone-rod dystrophy (Orphanet:85167)
Stevens-Johnson syndrome (Orphanet:36426)
Stickler syndrome (Orphanet:828)
Stickler syndrome type 1 (Orphanet:90653)
Sturge-Weber syndrome (Orphanet:3205)
Syndromic X-linked intellectual deficit 7 (Orphanet:85274)
TRAPS syndrome (Orphanet:32960)
Takayasu arteritis (Orphanet:3287)
Tay-Sachs disease (Orphanet:845)
Thiamine-responsive megaloblastic anemia syndrome (Orphanet:49827)
Townes-Brocks syndrome (Orphanet:857)
Treacher-Collins syndrome (Orphanet:861)
Tyrosinemia type 2 (Orphanet:28378)
USHER SYNDROME, TYPE I (OMIM:276900)
Usher syndrome (Orphanet:886)
Usher syndrome type 1 (Orphanet:231169)
Usher syndrome type 2 (Orphanet:231178)
Usher syndrome type 3 (Orphanet:231183)
Uveal coloboma - cleft lip and palate - intellectual deficit (Orphanet:1473)
Vogt-Koyanagi-Harada disease (Orphanet:3437)
Von Hippel anomaly (Orphanet:98941)
Von Hippel-Lindau disease (Orphanet:892)
WAGR syndrome (Orphanet:893)
Wagner disease (Orphanet:898)
Weill-Marchesani syndrome (Orphanet:3449)
Wolfram syndrome, mitochondrial form (OMIM:598500)
Wyburn-Mason syndrome (Orphanet:53719)
X-linked cerebral adrenoleukodystrophy (Orphanet:139396)
X-linked corneal dermoid (Orphanet:1661)
X-linked neurodegenerative syndrome, Hamel type (Orphanet:85336)
X-linked recessive ocular albinism (Orphanet:54)
X-linked reticulate pigmentary disorder with systemic manifestations (Orphanet:85453)
X-linked retinal dysplasia (Orphanet:1852)
Zellweger syndrome (Orphanet:912)
[DEL] LEBER OPTIC ATROPHY (OMIM:535000)
[DEL] PSEUDOXANTHOMA ELASTICUM (OMIM:264800)