Eyes and vision

With the recent advances in molecular genetic techniques, new genes that cause eye disease are being identified. In many instances, these findings allow researchers to develop innovative strategies for preventing or slowing the progress of genetic eye diseases.

• AAA see triple A syndrome
• abetalipoproteinemia
• absent iris see aniridia
• acanthocytosis see abetalipoproteinemia
• aceruloplasminemia
• Achalasia-addisonian syndrome see triple A syndrome
• Achalasia-Addisonianism-Alacrima syndrome see triple A syndrome
• Achalasia-alacrima syndrome see triple A syndrome
• Adamantiades-Behcet disease see Behçet disease
• ADOA see optic atrophy type 1
• Adrenoleukodystrophy see X-linked adrenoleukodystrophy
• Adrenomyeloneuropathy see X-linked adrenoleukodystrophy
• Adult premature aging syndrome see Werner syndrome
• Adult Progeria see Werner syndrome
• adult Refsum disease see Refsum disease
• AEG syndrome see SOX2 anophthalmia syndrome
• age-related macular degeneration
• agenesis of corpus callosum with chorioretinal abnormality see Aicardi syndrome
• agenesis of corpus callosum with infantile spasms and ocular abnormalities see Aicardi syndrome
• Aicardi syndrome
• Alacrima-achalasia-adrenal insufficiency neurologic disorder see triple A syndrome
• Albinism, Ocular see ocular albinism
• Albinism, Oculocutaneous see oculocutaneous albinism
• ALD (Adrenoleukodystrophy) see X-linked adrenoleukodystrophy
• Allgrove syndrome see triple A syndrome
• ALMS see Alström syndrome
• Alport syndrome
• Alström syndrome
• amaurosis, Leber congenital see Leber congenital amaurosis
• AMD see age-related macular degeneration
• Amish brittle hair syndrome see trichothiodystrophy
• amyloid cranial neuropathy with lattice corneal dystrophy see lattice corneal dystrophy type II
• amyloidosis due to mutant gelsolin see lattice corneal dystrophy type II
• amyloidosis, Finnish type see lattice corneal dystrophy type II
• amyloidosis, Meretoja type see lattice corneal dystrophy type II
• amyloidosis V see lattice corneal dystrophy type II
• Anderson-Warburg syndrome see Norrie disease
• aniridia
• Anophthalmia-esophageal-genital syndrome see SOX2 anophthalmia syndrome
• Apolipoprotein B deficiency see abetalipoproteinemia
• ARD see Refsum disease
• ARMD see age-related macular degeneration
• ARS see Axenfeld-Rieger syndrome
• arthrocutaneouveal granulomatosis see Blau syndrome
• Arts syndrome
• asymmetric hypoplasia of facial structures see craniofacial microsomia
• ataxia-deafness-optic atrophy, lethal see Arts syndrome
• ataxia, fatal X-linked, with deafness and loss of vision see Arts syndrome
• ataxia with oculomotor apraxia
• Atrophia bulborum hereditaria see Norrie disease
• auriculobranchiogenic dysplasia see craniofacial microsomia
• autosomal dominant familial hematuria, retinal arteriolar tortuosity, contractures see hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome
• autosomal dominant MYH9 spectrum disorders see MYH9-related disorder
• autosomal dominant Opitz syndrome (ADOS) see Opitz G/BBB syndrome
• autosomal dominant optic atrophy see optic atrophy type 1
• Axenfeld and Rieger anomaly see Axenfeld-Rieger syndrome
• Axenfeld anomaly see Axenfeld-Rieger syndrome
• Axenfeld-Rieger syndrome
• Axenfeld syndrome see Axenfeld-Rieger syndrome
• AXRA see Axenfeld-Rieger syndrome
• AXRS see Axenfeld-Rieger syndrome
• Baraitser-Winter syndrome
• Bardet-Biedl syndrome
• Bartholin-Patau syndrome see trisomy 13
• Bassen-Kornzweig Syndrome see abetalipoproteinemia
• BBS see Bardet-Biedl syndrome
• BCD see Bietti crystalline dystrophy
• Behçet disease
• benign essential blepharospasm
• Bernard-Horner syndrome see Horner syndrome
• 17β-hydroxysteroid dehydrogenase type 10 deficiency
• beta-galactosidase-1 (GLB1) deficiency see GM1 gangliosidosis
• Beta-galactosidosis see GM1 gangliosidosis
• Betalipoprotein Deficiency Disease see abetalipoproteinemia
• Biber-Haab-Dimmer dystrophy see lattice corneal dystrophy type I
• BIDS syndrome see trichothiodystrophy
• Bietti crystalline dystrophy
• BIOT see biotinidase deficiency
• biotinidase deficiency
• Blau syndrome
• blepharophimosis and mental retardation syndrome, Say-Barber/Biesecker/Young-Simpson type see Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• blepharophimosis-intellectual deficit syndrome, Say-Barber/Biesecker/Young-Simpson type see Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• blepharophimosis-mental retardation syndrome, Maat-Kievit-Brunner type see Ohdo syndrome, Maat-Kievit-Brunner type
• blepharophimosis, ptosis, and epicanthus inversus syndrome
• Bloch-Siemens-Sulzberger Syndrome see incontinentia pigmenti
• Bloch-Siemens syndrome see incontinentia pigmenti
• Bloch-Sulzberger Syndrome see incontinentia pigmenti
• BMRS, MKB type see Ohdo syndrome, Maat-Kievit-Brunner type
• BMRS SBBYS see Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• Bonneau-Beaumont syndrome see hyperferritinemia-cataract syndrome
• BPES see blepharophimosis, ptosis, and epicanthus inversus syndrome
• Brittle bone disease see osteogenesis imperfecta
• brittle hair-intellectual impairment-decreased fertility-short stature syndrome see trichothiodystrophy
• Broad Thumb-Hallux Syndrome see Rubinstein-Taybi syndrome
• BRWS see Baraitser-Winter syndrome
• BTD deficiency see biotinidase deficiency
• callosal agenesis and ocular abnormalities see Aicardi syndrome
• Camurati-Engelmann disease
• Carboxylase Deficiency, Multiple, Late-Onset see biotinidase deficiency
• CCFDN see congenital cataracts, facial dysmorphism, and neuropathy
• CDPX2 see X-linked chondrodysplasia punctata 2
• CED see Camurati-Engelmann disease
• cephalopolysyndactyly syndrome see Greig cephalopolysyndactyly syndrome
• Cerebral gigantism see Sotos syndrome
• cerebro-frontofacial syndrome, type 3 see Baraitser-Winter syndrome
• Cerebromuscular dystrophy, Fukuyama type see Fukuyama congenital muscular dystrophy
• cerebrooculorenal syndrome see Lowe syndrome
• cerebrotendinous xanthomatosis
• CFEOM see congenital fibrosis of the extraocular muscles
• CFM see craniofacial microsomia
• CHARGE syndrome
• Chediak-Higashi syndrome
• Chediak-Steinbrinck-Higashi syndrome see Chediak-Higashi syndrome
• cherry red spot myoclonus syndrome see sialidosis
• chondrodysplasia punctata 2, X-linked see X-linked chondrodysplasia punctata 2
• chondrodysplasia punctata, rhizomelic see rhizomelic chondrodysplasia punctata
• chorioretinal anomalies with ACC see Aicardi syndrome
• choroidal sclerosis see choroideremia
• choroideremia
• chromosome 1q21.1 deletion syndrome see 1q21.1 microdeletion
• CHS see Chediak-Higashi syndrome
• Classic Galactosemia see galactosemia
• classic Refsum disease see Refsum disease
• co-contractive retraction syndrome see isolated Duane retraction syndrome
• Cockayne-Pelizaeus-Merzbacher Disease see Pelizaeus-Merzbacher disease
• Cohen syndrome
• coloboma
• coloboma of optic nerve with renal disease see renal coloboma syndrome
• coloboma-ureteral-renal syndrome see renal coloboma syndrome
• color vision deficiency
• Complete trisomy 13 syndrome see trisomy 13
• complete trisomy 18 syndrome see trisomy 18
• cone-rod retinal dystrophy see retinitis pigmentosa
• congenital amaurosis of retinal origin see Leber congenital amaurosis
• congenital aniridia see aniridia
• Congenital betalipoprotein deficiency syndrome see abetalipoproteinemia
• congenital cataracts, facial dysmorphism, and neuropathy
• congenital fibrosis of the extraocular muscles
• congenital hereditary hematuria see Alport syndrome
• Congenital mesodermal dysmorphodystrophy see Weill-Marchesani syndrome
• congenital motor nystagmus see X-linked infantile nystagmus
• congenital plasminogen deficiency
• Congenital poikiloderma see Rothmund-Thomson Syndrome
• congenital progressive oculo-acoustico-cerebral degeneration see Norrie disease
• congenital retinal blindness see Leber congenital amaurosis
• congenital stromal corneal dystrophy
• congenital X-linked retinoschisis see X-linked juvenile retinoschisis
• conorenal dysplasia see Mainzer-Saldino syndrome
• conorenal syndrome see Mainzer-Saldino syndrome
• Conradi-Hünermann-Happle syndrome see X-linked chondrodysplasia punctata 2
• Conradi-Hünermann Syndrome see X-linked chondrodysplasia punctata 2
• 1q21.1 contiguous gene deletion see 1q21.1 microdeletion
• corneal dystrophy, congenital stromal see congenital stromal corneal dystrophy
• corneal dystrophy, juvenile epithelial of Meesmann see Meesmann corneal dystrophy
• corneal dystrophy, Meesmann epithelial see Meesmann corneal dystrophy
• craniofacial microsomia
• CRB see Leber congenital amaurosis
• CRD see Refsum disease
• CSCD see congenital stromal corneal dystrophy
• CTX see cerebrotendinous xanthomatosis
• cystine storage disease see cystinosis
• cystinosis
• DACS see congenital stromal corneal dystrophy
• Dappled metaphysis syndrome see spondyloepimetaphyseal dysplasia, Strudwick type
• DBS see Donnai-Barrow syndrome
• DDD see dense deposit disease
• De Morsier syndrome see septo-optic dysplasia
• deafness-dystonia-optic neuronopathy syndrome
• Deafness-dystonia syndrome see deafness-dystonia-optic neuronopathy syndrome
• Deafness-retinitis pigmentosa syndrome see Usher syndrome
• decorin-associated congenital stromal corneal dystrophy see congenital stromal corneal dystrophy
• 3H2MBD deficiency see 17β-hydroxysteroid dehydrogenase type 10 deficiency
• 1q21.1 deletion see 1q21.1 microdeletion
• 11p deletion syndrome see Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome
• 22q11.2 deletion syndrome see Opitz G/BBB syndrome
• dense deposit disease
• DeSanctis-Cacchione syndrome see xeroderma pigmentosum
• Devic disease see neuromyelitis optica
• Devic neuromyelitis optica see neuromyelitis optica
• Devic syndrome see neuromyelitis optica
• diabetes insipidus and mellitus with optic atrophy and deafness see Wolfram syndrome
• diabetes insipidus, diabetes mellitus, optic atrophy, and deafness see Wolfram syndrome
• diaphragmatic hernia-exomphalos-corpus callosum agenesis see Donnai-Barrow syndrome
• Diaphragmatic hernia-exomphalos-hypertelorism syndrome see Donnai-Barrow syndrome
• Diaphyseal Dysplasia, Progressive see Camurati-Engelmann disease
• diaphyseal hyperostosis see Camurati-Engelmann disease
• DIDMOAD see Wolfram syndrome
• DOA see optic atrophy type 1
• dominant optic atrophy see optic atrophy type 1
• Donnai-Barrow syndrome
• DRRS see Duane-radial ray syndrome
• Duane anomaly, isolated see isolated Duane retraction syndrome
• Duane-radial ray syndrome
• Duane retraction syndrome see isolated Duane retraction syndrome
• Duane syndrome see isolated Duane retraction syndrome
• dysgenesis neuroepithelialis retinae see Leber congenital amaurosis
• dystrophia corneae parenchymatosa congenita see congenital stromal corneal dystrophy
• dystrophia retinae pigmentosa-dysostosis syndrome see Usher syndrome
• dystrophic epidermolysis bullosa
• EAOH see ataxia with oculomotor apraxia
• early-onset ataxia with ocular motor apraxia and hypoalbuminemia see ataxia with oculomotor apraxia
• early-onset glaucoma
• early-onset sarcoidosis see Blau syndrome
• EDS see Ehlers-Danlos syndrome
• Edwards syndrome see trisomy 18
• Ehlers-Danlos syndrome
• Engelmann's Disease see Camurati-Engelmann disease
• Epidermolysis Bullosa, Dystrophic see dystrophic epidermolysis bullosa
• Epimerase deficiency galactosemia see galactosemia
• Episkopi blindness see Norrie disease
• essential blepharospasm see benign essential blepharospasm
• eyelid twitching see benign essential blepharospasm
• facioauriculovertebral dysplasia see craniofacial microsomia
• faciooculoacousticorenal syndrome see Donnai-Barrow syndrome
• familial amyloid polyneuropathy type IV see lattice corneal dystrophy type II
• familial amyloidosis, Finnish type see lattice corneal dystrophy type II
• familial apoceruloplasmin deficiency see aceruloplasminemia
• familial exudative vitreoretinopathy
• familial granulomatosis, Blau type see Blau syndrome
• familial horizontal gaze palsy with progressive scoliosis see horizontal gaze palsy with progressive scoliosis
• familial idiopathic scoliosis associated with congenital encephalopathy see horizontal gaze palsy with progressive scoliosis
• familial infantile scoliosis associated with bilateral paralysis of conjugate gaze see horizontal gaze palsy with progressive scoliosis
• familial juvenile systemic granulomatosis see Blau syndrome
• FAV see craniofacial microsomia
• FCMD see Fukuyama congenital muscular dystrophy
• Fetal iritis syndrome see Norrie disease
• FEVR see familial exudative vitreoretinopathy
• first and second branchial arch syndrome see craniofacial microsomia
• first and second pharyngeal arch syndromes see craniofacial microsomia
• FOAR syndrome see Donnai-Barrow syndrome
• focal dermal hypoplasia
• Fragilitas ossium see osteogenesis imperfecta
• Franceschetti-Zwahlen-Klein syndrome see Treacher Collins syndrome
• FRMD7-related infantile nystagmus see X-linked infantile nystagmus
• Fryns-Aftimos syndrome see Baraitser-Winter syndrome
• Fuchs endothelial dystrophy
• Fukuyama congenital muscular dystrophy
• Galactokinase Deficiency Disease see galactosemia
• Galactose-1-Phosphate Uridyl-Transferase Deficiency Disease see galactosemia
• Galactose epimerase deficiency see galactosemia
• galactosemia
• GALT Deficiency see galactosemia
• Garland-Moorhouse syndrome see Marinesco-Sjögren syndrome
• gaze palsy, familial horizontal, with progressive scoliosis see horizontal gaze palsy with progressive scoliosis
• gelsolin-related amyloidosis see lattice corneal dystrophy type II
• general fibrosis syndrome see congenital fibrosis of the extraocular muscles
• Glioma, retinal see retinoblastoma
• GM1 gangliosidosis
• Goldenhar-Gorlin syndrome see craniofacial microsomia
• Goldenhar syndrome see craniofacial microsomia
• Goltz-Gorlin syndrome see focal dermal hypoplasia
• Goltz Syndrome see focal dermal hypoplasia
• Graefe-Usher syndrome see Usher syndrome
• granulomatous inflammatory arthritis, dermatitis, and uveitis, familial see Blau syndrome
• Greig cephalopolysyndactyly syndrome
• Groenblad-Strandberg syndrome see pseudoxanthoma elasticum
• Gronblad-Strandberg syndrome see pseudoxanthoma elasticum
• gyrate atrophy of the choroid and retina
• Hall-Hittner syndrome see CHARGE syndrome
• Hallgren syndrome see Usher syndrome
• HANAC see hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome
• Happle syndrome see X-linked chondrodysplasia punctata 2
• HCC see hypomyelination and congenital cataract
• hematuria-nephropathy-deafness syndrome see Alport syndrome
• hematuric hereditary nephritis see Alport syndrome
• hemifacial microsomia see craniofacial microsomia
• hemorrhagic familial nephritis see Alport syndrome
• hemorrhagic hereditary nephritis see Alport syndrome
• hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome
• hereditary arthro-ophthalmo-dystrophy see Stickler syndrome
• hereditary arthro-ophthalmopathy see Stickler syndrome
• hereditary ceruloplasmin deficiency see aceruloplasminemia
• hereditary epithelial dysplasia of retina see Leber congenital amaurosis
• hereditary familial congenital hemorrhagic nephritis see Alport syndrome
• hereditary glaucoma see early-onset glaucoma
• hereditary hematuria syndrome see Alport syndrome
• hereditary hyperferritinemia-cataract syndrome see hyperferritinemia-cataract syndrome
• hereditary hyperferritinemia with congenital cataracts see hyperferritinemia-cataract syndrome
• hereditary interstitial pyelonephritis see Alport syndrome
• hereditary motor and sensory neuropathy Type IV see Refsum disease
• Hereditary nephritis see Alport syndrome
• hereditary oligophrenic cerebello-lental degeneration see Marinesco-Sjögren syndrome
• Hereditary optic neuroretinopathy see Leber hereditary optic neuropathy
• hereditary retinal aplasia see Leber congenital amaurosis
• heredopathia atactica polyneuritiformis see Refsum disease
• heredoretinopathia congenitalis see Leber congenital amaurosis
• Hermansky-Pudlak syndrome
• HFM see craniofacial microsomia
• HGPPS see horizontal gaze palsy with progressive scoliosis
• HHCS see hyperferritinemia-cataract syndrome
• Hirschsprung Disease-Mental Retardation Syndrome see Mowat-Wilson syndrome
• HMSN IV see Refsum disease
• HMSN type IV see Refsum disease
• HOGA see gyrate atrophy of the choroid and retina
• horizontal gaze palsy with progressive scoliosis
• Horner syndrome
• HPS see Hermansky-Pudlak syndrome
• HSD10 deficiency see 17β-hydroxysteroid dehydrogenase type 10 deficiency
• hyaloideoretinal degeneration of Wagner see Wagner syndrome
• 3-hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency see 17β-hydroxysteroid dehydrogenase type 10 deficiency
• hydroxyacyl-CoA dehydrogenase II deficiency see 17β-hydroxysteroid dehydrogenase type 10 deficiency
• hyperferritinemia-cataract syndrome
• hyperornithinemia with gyrate atrophy of choroid and retina see gyrate atrophy of the choroid and retina
• hyperostosis corticalis generalisata see SOST-related sclerosing bone dysplasia
• hyperotosis corticalis generalisata familiaris see SOST-related sclerosing bone dysplasia
• hyperphosphatasemia tarda see SOST-related sclerosing bone dysplasia
• hypertelorism-hypospadias sydrome see Opitz G/BBB syndrome
• hypertelorism with esophageal abnormalities and hypospadias see Opitz G/BBB syndrome
• hypoceruloplasminemia see aceruloplasminemia
• hypomyelination and congenital cataract
• hypoplasminogenemia see congenital plasminogen deficiency
• Hypotonia, obesity, and prominent incisors see Cohen syndrome
• IBIDS see trichothiodystrophy
• ichthyosiform erythroderma, corneal involvement, and deafness see keratitis-ichthyosis-deafness syndrome
• idiopathic infantile nystagmus see X-linked infantile nystagmus
• incontinentia pigmenti
• IP see incontinentia pigmenti
• irideremia see aniridia
• iris coloboma with ptosis, hypertelorism, and mental retardation see Baraitser-Winter syndrome
• isochromosome 12p syndrome see Pallister-Killian mosaic syndrome
• isolated Duane retraction syndrome
• juvenile hereditary epithelial dystrophy see Meesmann corneal dystrophy
• juvenile macular degeneration see Stargardt macular degeneration
• Kearns-Sayre syndrome
• keratitis, ichthyosis, and deafness see keratitis-ichthyosis-deafness syndrome
• keratitis-ichthyosis-deafness syndrome
• KID syndrome see keratitis-ichthyosis-deafness syndrome
• Kjer type optic atrophy see optic atrophy type 1
• Kjer's optic atrophy see optic atrophy type 1
• Kniest dysplasia
• Knobloch syndrome
• Krause-Kivlin syndrome see Peters plus syndrome
• Krause-van Schooneveld-Kivlin syndrome see Peters plus syndrome
• KSS see Kearns-Sayre syndrome
• Kymenlaakso syndrome see lattice corneal dystrophy type II
• Late-onset biotin-responsive multiple carboxylase deficiency see biotinidase deficiency
• Late-onset multiple carboxylase deficiency see biotinidase deficiency
• lateral facial dysplasia see craniofacial microsomia
• lattice corneal dystrophy type I
• lattice corneal dystrophy type II
• Laurence-Moon-Bardet-Biedl syndrome see Bardet-Biedl syndrome
• Laurence-Moon-Biedl syndrome see Bardet-Biedl syndrome
• Laurence-Moon syndrome see Bardet-Biedl syndrome
• LCA see Leber congenital amaurosis
• Leber congenital amaurosis
• Leber hereditary optic neuropathy
• Lenz microphthalmia syndrome
• LHON see Leber hereditary optic neuropathy
• LMBBS see Bardet-Biedl syndrome
• LMS see Bardet-Biedl syndrome
• Loken-Senior syndrome see Senior-Løken syndrome
• Lowe syndrome
• lymphedema-distichiasis syndrome
• lymphedema with distichiasis see lymphedema-distichiasis syndrome
• 2M3HBA see 17β-hydroxysteroid dehydrogenase type 10 deficiency
• 3MGA see 3-methylglutaconic aciduria
• MAA see Lenz microphthalmia syndrome
• macular degeneration, age-related see age-related macular degeneration
• macular dystrophy with flecks, type 1 see Stargardt macular degeneration
• Mainzer-Saldino syndrome
• mandibulofacial dysostosis (MFD1) see Treacher Collins syndrome
• Manitoba oculotrichoanal syndrome
• Marchesani syndrome see Weill-Marchesani syndrome
• Marfan syndrome
• Marinesco-Garland syndrome see Marinesco-Sjögren syndrome
• Marinesco-Sjögren syndrome
• Marles-Greenberg-Persaud syndrome see Manitoba oculotrichoanal syndrome
• Marles syndrome see Manitoba oculotrichoanal syndrome
• MCOPS1 see Lenz microphthalmia syndrome
• MCOPS2 see oculofaciocardiodental syndrome
• MCOPS7 see microphthalmia with linear skin defects syndrome
• MECD see Meesmann corneal dystrophy
• Meesmann corneal dystrophy
• membranoproliferative glomerulonephritis type II see dense deposit disease
• Meretoja syndrome see lattice corneal dystrophy type II
• Metatropic dwarfism, type II see Kniest dysplasia
• Metatropic dysplasia type II see Kniest dysplasia
• 2-methyl-3-hydroxybutyric aciduria see 17β-hydroxysteroid dehydrogenase type 10 deficiency
• 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency see 17β-hydroxysteroid dehydrogenase type 10 deficiency
• 3-methylglutaconic aciduria
• MFS see Marfan syndrome
• MHBD deficiency see 17β-hydroxysteroid dehydrogenase type 10 deficiency
• Microcephaly, Mental Retardation, and Distinct Facial Features, with or without Hirschsprung disease see Mowat-Wilson syndrome
• 1q21.1 microdeletion
• microphthalmia
• Microphthalmia, cataracts, radiculomegaly, and septal heart defects see oculofaciocardiodental syndrome
• microphthalmia or anophthalmos with associated anomalies see Lenz microphthalmia syndrome
• microphthalmia, syndromic 1 see Lenz microphthalmia syndrome
• Microphthalmia, syndromic 2 see oculofaciocardiodental syndrome
• microphthalmia with linear skin defects syndrome
• microphthalmos see microphthalmia
• Microsomal Triglyceride Transfer Protein Deficiency Disease see abetalipoproteinemia
• MIDAS syndrome see microphthalmia with linear skin defects syndrome
• ML4 see mucolipidosis type IV
• MLIV see mucolipidosis type IV
• MLS syndrome see microphthalmia with linear skin defects syndrome
• Mohr-Tranebjærg syndrome see deafness-dystonia-optic neuronopathy syndrome
• Morquio-Brailsford disease see mucopolysaccharidosis type IV
• Morquio Disease see mucopolysaccharidosis type IV
• Morquio Syndrome see mucopolysaccharidosis type IV
• MOTA see Manitoba oculotrichoanal syndrome
• Mowat-Wilson syndrome
• MPGNII see dense deposit disease
• MPS IV see mucopolysaccharidosis type IV
• MSS see Marinesco-Sjögren syndrome
• mucolipidosis I see sialidosis
• mucolipidosis type I see sialidosis
• mucolipidosis type IV
• mucopolysaccharidosis type IV
• Multiple Carboxylase Deficiency, Late-Onset see biotinidase deficiency
• Muscular dystrophy, congenital, Fukuyama type see Fukuyama congenital muscular dystrophy
• Muscular dystrophy, congenital progressive, with mental retardation see Fukuyama congenital muscular dystrophy
• Muscular dystrophy, congenital, with central nervous system involvement see Fukuyama congenital muscular dystrophy
• Muscular Dystrophy, Oculopharyngeal see oculopharyngeal muscular dystrophy
• MWS see Mowat-Wilson syndrome
• MYH9-related disorder
• MYH9RD see MYH9-related disorder
• myoclonus cherry red spot syndrome see sialidosis
• MZSDS see Mainzer-Saldino syndrome
• NARP see neuropathy, ataxia, and retinitis pigmentosa
• NBIA1 see pantothenate kinase-associated neurodegeneration
• Neuroaxonal dystrophy, juvenile-onset see pantothenate kinase-associated neurodegeneration
• Neurodegeneration with Brain Iron Accumulation Type 1 see pantothenate kinase-associated neurodegeneration
• neurogenic muscle weakness, ataxia, and retinitis pigmentosa see neuropathy, ataxia, and retinitis pigmentosa
• neuromyelitis optica
• neuropathy, ataxia, and retinitis pigmentosa
• Norio syndrome see Cohen syndrome
• Norrie disease
• NYS1 see X-linked infantile nystagmus
• OA see ocular albinism
• OAT deficiency see gyrate atrophy of the choroid and retina
• OAV complex see craniofacial microsomia
• OAVS see craniofacial microsomia
• obesity-hypotonia syndrome see Cohen syndrome
• OCA see oculocutaneous albinism
• ocular albinism
• ocular coloboma see coloboma
• ocular retraction syndrome see isolated Duane retraction syndrome
• oculo-dento-digital dysplasia see oculodentodigital dysplasia
• oculo-dento-osseous dysplasia see oculodentodigital dysplasia
• Oculo-facio-cardio-dental syndrome see oculofaciocardiodental syndrome
• oculoauriculovertebral spectrum see craniofacial microsomia
• oculocerebrorenal syndrome see Lowe syndrome
• oculocutaneous albinism
• Oculocutaneous albinism with leukocyte defect see Chediak-Higashi syndrome
• oculodentodigital dysplasia
• oculodentoosseous dysplasia see oculodentodigital dysplasia
• oculofaciocardiodental syndrome
• oculopharyngeal muscular dystrophy
• oculosympathetic palsy see Horner syndrome
• ODD syndrome see oculodentodigital dysplasia
• ODDD see oculodentodigital dysplasia
• ODOD see oculodentodigital dysplasia
• OFCD syndrome see oculofaciocardiodental syndrome
• Ohdo syndrome, Maat-Kievit-Brunner type
• Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• OI see osteogenesis imperfecta
• Okihiro syndrome see Duane-radial ray syndrome
• OKT deficiency see gyrate atrophy of the choroid and retina
• Old Silk Route disease see Behçet disease
• Oligophrenia microphthalmus see Norrie disease
• ONCR see renal coloboma syndrome
• ophthalmoplegia, progressive external, and scoliosis see horizontal gaze palsy with progressive scoliosis
• Opitz G/BBB syndrome
• OPMD see oculopharyngeal muscular dystrophy
• OPPG see osteoporosis-pseudoglioma syndrome
• optic atrophy type 1
• optic coloboma, vesicoureteral reflux, and renal anomalies see renal coloboma syndrome
• optic nerve coloboma renal syndrome see renal coloboma syndrome
• optic-spinal MS see neuromyelitis optica
• opticospinal MS see neuromyelitis optica
• oral-mandibular-auricular syndrome see craniofacial microsomia
• ornithine aminotransferase deficiency see gyrate atrophy of the choroid and retina
• ornithine-delta-aminotransferase deficiency see gyrate atrophy of the choroid and retina
• ornithine keto acid aminotransferase deficiency see gyrate atrophy of the choroid and retina
• Ornithinemia with gyrate atrophy see gyrate atrophy of the choroid and retina
• osseous-oculo-dental dysplasia see oculodentodigital dysplasia
• osteogenesis imperfecta
• osteogenesis imperfecta, ocular form see osteoporosis-pseudoglioma syndrome
• osteoporosis-pseudoglioma syndrome
• otomandibular dysostosis see craniofacial microsomia
• Pallister-Killian mosaic syndrome
• pantothenate kinase-associated neurodegeneration
• papillorenal syndrome see renal coloboma syndrome
• 11p partial monosomy syndrome see Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome
• Patau syndrome see trisomy 13
• PDD see Camurati-Engelmann disease
• pediatric granulomatous arthritis see Blau syndrome
• Pelizaeus-Merzbacher disease
• Pepper syndrome see Cohen syndrome
• Peters plus syndrome
• phosphatidylinositol-4,5-bisphosphate-5-phosphatase deficiency see Lowe syndrome
• phytanic acid storage disease see Refsum disease
• PIBIDS see trichothiodystrophy
• pigmentary retinopathy see retinitis pigmentosa
• PKAN see pantothenate kinase-associated neurodegeneration
• PKS see Pallister-Killian mosaic syndrome
• PMD see Pelizaeus-Merzbacher disease
• Poikiloderma atrophicans and cataract see Rothmund-Thomson Syndrome
• Poikiloderma Congenitale see Rothmund-Thomson Syndrome
• Polymicrogyria with muscular dystrophy see Fukuyama congenital muscular dystrophy
• primary blepharospasm see benign essential blepharospasm
• Progressive muscular dystrophy, oculopharyngeal type see oculopharyngeal muscular dystrophy
• progressive supranuclear palsy
• progressive tapetochoroidal dystrophy see choroideremia
• prominent incisors-obesity-hypotonia syndrome see Cohen syndrome
• pseudoglioma congenita see Norrie disease
• pseudoxanthoma elasticum
• PSP see progressive supranuclear palsy
• PXE see pseudoxanthoma elasticum
• RB see retinoblastoma
• RCDP see rhizomelic chondrodysplasia punctata
• RCP see rhizomelic chondrodysplasia punctata
• RCS see renal coloboma syndrome
• Refsum disease
• renal coloboma syndrome
• renal dysplasia and retinal aplasia see Senior-Løken syndrome
• renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia, and skeletal dysplasia see Mainzer-Saldino syndrome
• renal-retinal syndrome see Senior-Løken syndrome
• retinal detachment and occipital encephalocele see Knobloch syndrome
• retinitis pigmentosa
• Retinitis pigmentosa-deafness syndrome see Usher syndrome
• retinoblastoma
• Retinoschisis see X-linked juvenile retinoschisis
• rhizomelic chondrodysplasia punctata
• Richardson's syndrome see progressive supranuclear palsy
• Rieger anomaly see Axenfeld-Rieger syndrome
• Rieger syndrome see Axenfeld-Rieger syndrome
• rod-cone dystrophy see retinitis pigmentosa
• Rothmund-Thomson Syndrome
• RP see retinitis pigmentosa
• RSTS see Rubinstein-Taybi syndrome
• RTS see Rothmund-Thomson Syndrome; Rubinstein-Taybi syndrome
• Rubinstein-Taybi syndrome
• Saldino-Mainzer dysplasia see Mainzer-Saldino syndrome
• Saldino-Mainzer syndrome see Mainzer-Saldino syndrome
• Say-Barber-Biesecker-Young-Simpson syndrome see Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome see Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• SBBYS variant of Ohdo syndrome see Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• SBBYSS see Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• SCAN2 see ataxia with oculomotor apraxia
• SCAR1 see ataxia with oculomotor apraxia
• Schilder-Addison Complex see X-linked adrenoleukodystrophy
• sclerosis; brain, Pelizaeus-Merzbacher see Pelizaeus-Merzbacher disease
• sclerosteosis see SOST-related sclerosing bone dysplasia
• SED congenita see spondyloepiphyseal dysplasia congenita
• SED Strudwick see spondyloepimetaphyseal dysplasia, Strudwick type
• SEDc see spondyloepiphyseal dysplasia congenita
• SEMD, Strudwick type see spondyloepimetaphyseal dysplasia, Strudwick type
• Senior-Løken syndrome
• septo-optic dysplasia
• septooptic dysplasia see septo-optic dysplasia
• sialidosis
• Sialolipidosis see mucolipidosis type IV
• SMED, Strudwick type see spondyloepimetaphyseal dysplasia, Strudwick type
• SMED, type I see spondyloepimetaphyseal dysplasia, Strudwick type
• SOD see septo-optic dysplasia
• SOST-related sclerosing bone dysplasia
• SOST sclerosing bone dysplasia see SOST-related sclerosing bone dysplasia
• Sotos syndrome
• SOX2 anophthalmia syndrome
• spasm of eyelids see benign essential blepharospasm
• SPD see spondyloperipheral dysplasia
• Spherophakia-brachymorphia syndrome see Weill-Marchesani syndrome
• spinocerebellar ataxia, recessive, non-Friedreich type 1 see ataxia with oculomotor apraxia
• spinocerebellar ataxia with axonal neuropathy type 2 see ataxia with oculomotor apraxia
• spondyloepimetaphyseal dysplasia, Strudwick type
• spondyloepiphyseal dysplasia congenita
• Spondylometaepiphyseal dysplasia congenita, Strudwick type see spondyloepimetaphyseal dysplasia, Strudwick type
• Spondylometaphyseal dysplasia (SMD) see spondyloepimetaphyseal dysplasia, Strudwick type
• spondyloperipheral dysplasia
• Stargardt macular degeneration
• Steele-Richardson-Olszewski syndrome see progressive supranuclear palsy
• STGD see Stargardt macular degeneration
• Stickler syndrome
• Stilling-Turk-Duane syndrome see isolated Duane retraction syndrome
• Strudwick syndrome see spondyloepimetaphyseal dysplasia, Strudwick type
• supranuclear palsy, progressive see progressive supranuclear palsy
• Swiss cheese cartilage dysplasia see Kniest dysplasia
• syndromic microphthalmia 3 see SOX2 anophthalmia syndrome
• syndromic microphthalmia-7 see microphthalmia with linear skin defects syndrome
• systemic hemosiderosis due to aceruloplasminemia see aceruloplasminemia
• tapetoretinal degeneration see retinitis pigmentosa
• TCD see choroideremia
• Teschler-Nicola/Killian syndrome see Pallister-Killian mosaic syndrome
• tetra-amelia syndrome
• tetrasomy 12p, mosaic see Pallister-Killian mosaic syndrome
• Treacher Collins syndrome
• trichothiodystrophy
• triple A syndrome
• triple symptom complex see Behçet disease
• trisomy 13
• trisomy 18
• TTD see trichothiodystrophy
• type II MPGN see dense deposit disease
• UDP-Galactose-4-Epimerase Deficiency Disease see galactosemia
• UDPglucose 4-Epimerase Deficiency Disease see galactosemia
• UDPglucose Hexose-1-Phosphate Uridylyltransferase Deficiency see galactosemia
• unilateral intrauterine facial necrosis see craniofacial microsomia
• unilateral mandibulofacial dysostosis see craniofacial microsomia
• Usher syndrome
• UTP Hexose-1-Phosphate Uridylyltransferase Deficiency see galactosemia
• uveoretinal coloboma see coloboma
• Van Bogaert-Scherer-Epstein Disease see cerebrotendinous xanthomatosis
• van Buchem disease see SOST-related sclerosing bone dysplasia
• VCAN-related vitreoretinopathy see Wagner syndrome
• vitelliform macular dystrophy
• von Passow syndrome see Horner syndrome
• Vrolik disease see osteogenesis imperfecta
• Waardenburg syndrome
• Wagner syndrome
• WAGR complex see Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome
• WAGR contiguous gene syndrome see Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome
• WAGR syndrome see Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome
• Weill-Marchesani syndrome
• Werner syndrome
• Whitnall-Norman syndrome see Norrie disease
• Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome
• WMS see Weill-Marchesani syndrome
• Wolfram syndrome
• WS see Werner syndrome
• X-ALD see X-linked adrenoleukodystrophy
• X-linked adrenoleukodystrophy
• X-linked chondrodysplasia punctata 2
• X-linked congenital stationary night blindness
• X-linked infantile nystagmus
• X-linked juvenile retinoschisis
• X-linked Ohdo syndrome see Ohdo syndrome, Maat-Kievit-Brunner type
• X-linked Opitz syndrome (XLOS) see Opitz G/BBB syndrome
• Xanthomatosis, Cerebrotendinous see cerebrotendinous xanthomatosis
• xeroderma pigmentosum
• XLCSNB see X-linked congenital stationary night blindness
• XLOA see ocular albinism
• XP see xeroderma pigmentosum
• Young-Simpson syndrome see Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant
• zygoauromandibular dysplasia see Treacher Collins syndrome