At a Glance
Aniridia 1;
3-Methylglutaconic aciduria type 3;
Abetalipoproteinaemia
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Aniridia 1
3-Methylglutaconic aciduria type 3
Abetalipoproteinaemia
Abortive cerebellar ataxia
Achondrogenesis type II
Achromatopsia 2
Achromatopsia 3
Achromatopsia 4
Achromatopsia 7
Acrocallosal syndrome
Age-related macular degeneration 2
Age-related macular degeneration 6
Aicardi Goutieres syndrome 1
Alagille syndrome 1
Alstrom syndrome
Arts syndrome
Asphyxiating thoracic dystrophy 2
Asphyxiating thoracic dystrophy 4
Asphyxiating thoracic dystrophy 5
Ataxia-hypogonadism-choroidal dystrophy syndrome
Atrophia bulborum hereditaria
Autosomal dominant nonsyndromic deafness 6
Autosomal dominant optic atrophy classic form
Autosomal dominant osteopetrosis 1
Avascular necrosis of the head of femur
Axial spondylometaphyseal dysplasia
Bardet-Biedl syndrome 1
Bardet-Biedl syndrome 10
Bardet-Biedl syndrome 11
Bardet-Biedl syndrome 12
Bardet-Biedl syndrome 13
Bardet-Biedl syndrome 14
Bardet-Biedl syndrome 15
Bardet-Biedl syndrome 16
Bardet-Biedl syndrome 17
Bardet-Biedl syndrome 18
Bardet-Biedl syndrome 19
Bardet-Biedl syndrome 2
Bardet-Biedl syndrome 21
Bardet-Biedl syndrome 3
Bardet-Biedl syndrome 4
Bardet-Biedl syndrome 5
Bardet-Biedl syndrome 7
Bardet-Biedl syndrome 8
Bardet-Biedl syndrome 9
Bestrophinopathy, autosomal recessive
Bietti crystalline corneoretinal dystrophy
Bone mineral density quantitative trait locus 1
Bosch-Boonstra-Schaaf optic atrophy syndrome
Bothnia retinal dystrophy
Bradyopsia
Bull's eye macular dystrophy
Cataract 41
Cerebellar atrophy, visual impairment, and psychomotor retardation
Ceroid lipofuscinosis neuronal 2
Charcot-Marie-Tooth disease, X-linked recessive, type 5
Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B
Charcot-Marie-Tooth disease, type 2A2A
Chilblain lupus 1
Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
Choroidal dystrophy, central areolar 1
Choroidal dystrophy, central areolar 2
Choroideremia
Cohen syndrome
Coloboma of optic disc
Coloboma, ocular, autosomal dominant
Cone dystrophy 3
Cone dystrophy 4
Cone dystrophy with supernormal rod response
Cone-rod dystrophy 10
Cone-rod dystrophy 11
Cone-rod dystrophy 12
Cone-rod dystrophy 13
Cone-rod dystrophy 15
Cone-rod dystrophy 16
Cone-rod dystrophy 18
Cone-rod dystrophy 19
Cone-rod dystrophy 2
Cone-rod dystrophy 20
Cone-rod dystrophy 21
Cone-rod dystrophy 3
Cone-rod dystrophy 5
Cone-rod dystrophy 6
Cone-rod dystrophy 7
Cone-rod dystrophy 9
Cone-rod dystrophy and hearing loss 1
Cone-rod dystrophy and hearing loss 2
Congenital heart defects, hamartomas of tongue, and polysyndactyly
Congenital hypotrichosis with juvenile macular dystrophy
Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3
Congenital stationary night blindness, autosomal dominant 1
Congenital stationary night blindness, autosomal dominant 2
Congenital stationary night blindness, autosomal dominant 3
Congenital stationary night blindness, type 1A
Congenital stationary night blindness, type 1B
Congenital stationary night blindness, type 1C
Congenital stationary night blindness, type 1D
Congenital stationary night blindness, type 1E
Congenital stationary night blindness, type 1F
Congenital stationary night blindness, type 2A
Congenital stationary night blindness, type 2B
Coxa plana
Cranioectodermal dysplasia 3
Cranioectodermal dysplasia 4
Czech dysplasia, metatarsal type
Deafness dystonia syndrome
Deafness enamel hypoplasia nail defects
Deafness, X-linked 1
Deafness, autosomal dominant 11
Deafness, autosomal dominant 13
Deafness, autosomal dominant 37
Deafness, autosomal recessive 12
Deafness, autosomal recessive 18
Deafness, autosomal recessive 2
Deafness, autosomal recessive 23
Deafness, autosomal recessive 31
Deafness, autosomal recessive 48
Deafness, autosomal recessive 53
Deafness, autosomal recessive 57
Deafness, congenital heart defects, and posterior embryotoxon
Developmental delay and seizures with or without movement abnormalities
Donnai-Barrow syndrome
Doyne honeycomb retinal dystrophy
EEM syndrome
Enhanced S-cone syndrome
Epiphyseal dysplasia, multiple, 2
Epiphyseal dysplasia, multiple, 3
Epiphyseal dysplasia, multiple, with myopia and conductive deafness
Essential hypertension
Exudative vitreoretinopathy 1
Exudative vitreoretinopathy 4
Exudative vitreoretinopathy 5
Exudative vitreoretinopathy 6
Familial exudative vitreoretinopathy, X-linked
Familial isolated deficiency of vitamin E
Febrile seizures, familial, 4
Fibrochondrogenesis 1
Fibrochondrogenesis 2
Fleck retina, familial benign
Focal segmental glomerulosclerosis 7
Foveal hypoplasia and presenile cataract syndrome
Generalized arterial calcification of infancy 2
Glaucoma, normal tension, susceptibility to
Glaucoma, primary closed-angle
Heimler syndrome 2
Hemolytic anemia due to hexokinase deficiency
Hereditary motor and sensory neuropathy with optic atrophy
Hereditary spastic paraplegia 39
Hydrocephalus, congenital, 2, with or without brain or eye anomalies
Hydrolethalus syndrome 2
Ichthyosis, spastic quadriplegia, and mental retardation
Immunodeficiency 13
Infantile Refsum's disease
Infantile cerebellar-retinal degeneration
Infantile nephronophthisis
Infantile nystagmus, X-linked
Intervertebral disc disorder
Irido-corneo-trabecular dysgenesis
Jalili syndrome
Joubert syndrome 1
Joubert syndrome 10
Joubert syndrome 13
Joubert syndrome 14
Joubert syndrome 15
Joubert syndrome 16
Joubert syndrome 17
Joubert syndrome 18
Joubert syndrome 2
Joubert syndrome 20
Joubert syndrome 21
Joubert syndrome 22
Joubert syndrome 23
Joubert syndrome 24
Joubert syndrome 27
Joubert syndrome 28
Joubert syndrome 3
Joubert syndrome 30
Joubert syndrome 35
Joubert syndrome 4
Joubert syndrome 5
Joubert syndrome 6
Joubert syndrome 7
Joubert syndrome 8
Joubert syndrome 9
Joubert syndrome with hepatic defect
Juvenile retinoschisis
Keratitis, hereditary
Klippel-Feil syndrome 1, autosomal dominant
Kniest dysplasia
Knobloch syndrome 1
Late-onset retinal degeneration
Laurence-Moon syndrome
Leber congenital amaurosis 1
Leber congenital amaurosis 10
Leber congenital amaurosis 11
Leber congenital amaurosis 12
Leber congenital amaurosis 13
Leber congenital amaurosis 14
Leber congenital amaurosis 15
Leber congenital amaurosis 16
Leber congenital amaurosis 17
Leber congenital amaurosis 2
Leber congenital amaurosis 3
Leber congenital amaurosis 4
Leber congenital amaurosis 5
Leber congenital amaurosis 6
Leber congenital amaurosis 7
Leber congenital amaurosis 8
Leber congenital amaurosis 9
Limb-girdle muscular dystrophy-dystroglycanopathy, type C3
MORM syndrome
Macrocephaly with multiple epiphyseal dysplasia and distinctive facies
Macular dystrophy, patterned, 1
Macular dystrophy, patterned, 2
Macular dystrophy, patterned, 3
Macular dystrophy, vitelliform, 4
Macular dystrophy, vitelliform, 5
Macular dystrophy, vitelliform, adult-onset
Marshall syndrome
Maturity-onset diabetes of the young type 6
McKusick-Kaufman syndrome
Meckel syndrome 13
Meckel syndrome type 1
Meckel syndrome type 6
Meckel syndrome type 7
Meckel syndrome type 8
Meckel syndrome, type 11
Meckel syndrome, type 2
Meckel syndrome, type 3
Meckel syndrome, type 4
Meckel syndrome, type 5
Meckel syndrome, type 9
Metabolic syndrome X
Microcephaly and chorioretinopathy, autosomal recessive, 1
Microcephaly and chorioretinopathy, autosomal recessive, 2
Microcephaly and chorioretinopathy, autosomal recessive, 3
Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation
Microcornea, myopic chorioretinal atrophy, and telecanthus
Microphthalmia, isolated 4
Microphthalmia, isolated 5
Microphthalmia, isolated, with coloboma 10
Microphthalmia, isolated, with coloboma 6
Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)
Morbid obesity and spermatogenic failure
Mucolipidosis type III gamma
Mucopolysaccharidosis, MPS-III-C
Multiple epiphyseal dysplasia 6
Multiple synostoses syndrome 4
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
Myopia, high, with cataract and vitreoretinal degeneration
Namaqualand hip dysplasia
Nanophthalmos 2
Neonatal adrenoleucodystrophy
Nephronophthisis 1
Nephronophthisis 11
Nephronophthisis 12
Nephronophthisis 13
Nephronophthisis 14
Nephronophthisis 15
Nephronophthisis 18
Nephronophthisis 3
Nephronophthisis 4
Neurodevelopmental disorder with visual defects and brain anomalies
Neuronal ceroid lipofuscinosis 3
Neuropathy, hereditary motor and sensory, Russe type
Newfoundland rod-cone dystrophy
Night blindness, congenital stationary, type 1g
Night blindness, congenital stationary, type 1h
Night blindness, congenital stationary, type1i
Nystagmus 6, congenital, X-linked
Occult macular dystrophy
Ocular albinism, type I
Ocular albinism, type II
Oculoauricular syndrome
Oculocutaneous albinism type 1B
Oculocutaneous albinism type 3
Oculocutaneous albinism type 4
Oguchi's disease
Optic atrophy 10 with or without ataxia, mental retardation, and seizures
Optic atrophy 3
Optic atrophy 7
Optic atrophy 9
Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy
Optic nerve hypoplasia, bilateral
Ornithine aminotransferase deficiency
Orofacial-digital syndrome IV
Orofaciodigital syndrome 16
Orofaciodigital syndrome I
Orofaciodigital syndrome type 6
Osteoporosis with pseudoglioma
Otospondylomegaepiphyseal dysplasia, autosomal dominant
Otospondylomegaepiphyseal dysplasia, autosomal recessive
PERCHING syndrome
Peroxisome biogenesis disorder 10A
Peroxisome biogenesis disorder 10b
Peroxisome biogenesis disorder 11A
Peroxisome biogenesis disorder 11B
Peroxisome biogenesis disorder 12A
Peroxisome biogenesis disorder 13A
Peroxisome biogenesis disorder 14B
Peroxisome biogenesis disorder 1A (Zellweger)
Peroxisome biogenesis disorder 1B
Peroxisome biogenesis disorder 2A (Zellweger)
Peroxisome biogenesis disorder 3A
Peroxisome biogenesis disorder 4B
Peroxisome biogenesis disorder 4a (zellweger)
Peroxisome biogenesis disorder 5B
Peroxisome biogenesis disorder 5a (zellweger)
Peroxisome biogenesis disorder 6A
Peroxisome biogenesis disorder 6B
Peroxisome biogenesis disorder 7A
Peroxisome biogenesis disorder 7B
Peroxisome biogenesis disorder 8A
Peroxisome biogenesis disorder 8B
Peroxisome biogenesis disorder 9B
Persistent hyperplastic primary vitreous, autosomal recessive
Phosphoribosylpyrophosphate synthetase superactivity
Phytanic acid storage disease
Pigmentary retinal dystrophy
Pigmented paravenous chorioretinal atrophy
Pituitary adenoma 5, multiple types
Pituitary hormone deficiency, combined 6
Platyspondylic dysplasia, Torrance type
Polycystic liver disease 4 with or without kidney cysts
Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract
Posterior column ataxia-retinitis pigmentosa syndrome
Postmenopausal osteoporosis
Pseudoxanthoma elasticum
Pseudoxanthoma elasticum, forme fruste
RHYNS syndrome
Renal coloboma syndrome
Renal-hepatic-pancreatic dysplasia 1
Retinal cone dystrophy 3A
Retinal cone dystrophy 4
Retinal dystrophy and obesity
Retinal dystrophy with leukodystrophy
Retinal dystrophy with or without extraocular anomalies
Retinal dystrophy with or without macular staphyloma
Retinal dystrophy, iris coloboma, and comedogenic acne syndrome
Retinal dystrophy, juvenile cataracts, and short stature syndrome
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
Retinitis pigmentosa
Retinitis pigmentosa 1
Retinitis pigmentosa 10
Retinitis pigmentosa 11
Retinitis pigmentosa 12
Retinitis pigmentosa 13
Retinitis pigmentosa 14
Retinitis pigmentosa 17
Retinitis pigmentosa 18
Retinitis pigmentosa 19
Retinitis pigmentosa 2
Retinitis pigmentosa 20
Retinitis pigmentosa 23
Retinitis pigmentosa 25
Retinitis pigmentosa 26
Retinitis pigmentosa 27
Retinitis pigmentosa 28
Retinitis pigmentosa 30
Retinitis pigmentosa 31
Retinitis pigmentosa 32
Retinitis pigmentosa 33
Retinitis pigmentosa 35
Retinitis pigmentosa 36
Retinitis pigmentosa 37
Retinitis pigmentosa 38
Retinitis pigmentosa 39
Retinitis pigmentosa 4
Retinitis pigmentosa 40
Retinitis pigmentosa 41
Retinitis pigmentosa 42
Retinitis pigmentosa 43
Retinitis pigmentosa 44
Retinitis pigmentosa 45
Retinitis pigmentosa 46
Retinitis pigmentosa 47
Retinitis pigmentosa 48
Retinitis pigmentosa 49
Retinitis pigmentosa 50
Retinitis pigmentosa 51
Retinitis pigmentosa 54
Retinitis pigmentosa 55
Retinitis pigmentosa 56
Retinitis pigmentosa 57
Retinitis pigmentosa 58
Retinitis pigmentosa 59
Retinitis pigmentosa 60
Retinitis pigmentosa 61
Retinitis pigmentosa 62
Retinitis pigmentosa 66
Retinitis pigmentosa 67
Retinitis pigmentosa 68
Retinitis pigmentosa 69
Retinitis pigmentosa 7
Retinitis pigmentosa 70
Retinitis pigmentosa 71
Retinitis pigmentosa 72
Retinitis pigmentosa 73
Retinitis pigmentosa 74
Retinitis pigmentosa 75
Retinitis pigmentosa 76
Retinitis pigmentosa 77
Retinitis pigmentosa 78
Retinitis pigmentosa 79
Retinitis pigmentosa 80
Retinitis pigmentosa 81
Retinitis pigmentosa 82 with or without situs inversus
Retinitis pigmentosa 83
Retinitis pigmentosa 84
Retinitis pigmentosa 85
Retinitis pigmentosa 86
Retinitis pigmentosa 87 with choroidal involvement
Retinitis pigmentosa 88
Retinitis pigmentosa and erythrocytic microcytosis
Retinitis pigmentosa with or without skeletal anomalies
Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome
Rhizomelic chondrodysplasia punctata type 1
Rhizomelic chondrodysplasia punctata type 5
Saldino-Mainzer syndrome
Sarcotubular myopathy
Senior-Loken syndrome 1
Senior-Loken syndrome 4
Senior-Loken syndrome 5
Senior-Loken syndrome 6
Senior-Loken syndrome 7
Senior-Loken syndrome 8
Senior-Loken syndrome 9
Short-rib thoracic dysplasia 10 with or without polydactyly
Short-rib thoracic dysplasia 14 with polydactyly
Short-rib thoracic dysplasia 18 with polydactyly
Short-rib thoracic dysplasia 19 with or without polydactyly
Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay
Simpson-Golabi-Behmel syndrome, type 2
Skin/hair/eye pigmentation, variation in, 1
Skin/hair/eye pigmentation, variation in, 11
Skin/hair/eye pigmentation, variation in, 3
Skin/hair/eye pigmentation, variation in, 5
Snowflake vitreoretinal degeneration
Sorsby fundus dystrophy
Spinocerebellar ataxia type 34
Spondyloepiphyseal dysplasia congenita
Spondyloepiphyseal dysplasia, stanescu type
Spondylometaphyseal dysplasia
Spondylometaphyseal dysplasia - Sutcliffe type
Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome
Spondyloperipheral dysplasia-short ulna syndrome
Stargardt Disease 3
Stargardt disease 1
Stargardt disease 4
Stickler syndrome type 1
Stickler syndrome type 2
Stickler syndrome, type 4
Stickler syndrome, type 5
Stickler syndrome, type I, nonsyndromic ocular
Sveinsson chorioretinal atrophy
Syndromic microphthalmia type 5
Systemic lupus erythematosus
Tetralogy of Fallot
Trichomegaly-retina pigmentary degeneration-dwarfism syndrome
Tritanopia
Type 2 diabetes mellitus
Tyrosinase-negative oculocutaneous albinism
Tyrosinase-positive oculocutaneous albinism
Usher syndrome type 1
Usher syndrome type 1D
Usher syndrome type 1F
Usher syndrome, type 1C
Usher syndrome, type 1G
Usher syndrome, type 1J
Usher syndrome, type 2A
Usher syndrome, type 2C
Usher syndrome, type 2D
Usher syndrome, type 3A
Usher syndrome, type 4
Van Buchem disease type 2
Vitelliform macular dystrophy type 2
Vitreoretinochoroidopathy
Vitreoretinopathy, neovascular inflammatory
Wagner syndrome
Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome
Wolfram syndrome 1
Wolfram syndrome 2
Wolfram-like syndrome, autosomal dominant
Worth disease
X-linked cone-rod dystrophy 3
ABCA4 (1p22.1);
ABCC6 (16p13.11);
ABHD12 (20p11.21);
ACBD5 (10p12.1);
ACO2 (22q13.2)
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Conditions
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Total conditions: 485
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Methodology
Total methods: 0
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