CRYAA - crystallin alpha A Gene

Also Known as CRYA1; HSPB4; CTRCT9

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 1409

About CRYAA

Cytogenetic location: 21q22.3 Genomic coordinates (GRCh38): 21:43,169,008-43,172,810 (from NCBI)

This gene has 5 transcripts (splice variants), 217 orthologues, 8 paralogues and is associated with 9 phenotypes. Restricted expression toward kidney (RPKM 43.9).

Summary

Mammalian lens crystallins are divided into alpha, beta, and gamma families. Alpha crystallins are composed of two gene products: alpha-A and alpha-B, for acidic and basic, respectively. Alpha crystallins can be induced by heat shock and are members of the small heat shock protein (HSP20) family. They act as molecular chaperones although they do not renature proteins and release them in the fashion of a true chaperone; instead they hold them in large soluble aggregates. Post-translational modifications decrease the ability to chaperone. These heterogeneous aggregates consist of 30-40 subunits; the alpha-A and alpha-B subunits have a 3:1 ratio, respectively. Two additional functions of alpha crystallins are an autokinase activity and participation in the intracellular architecture. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. Alpha-A and alpha-B gene products are differentially expressed; alpha-A is preferentially restricted to the lens and alpha-B is expressed widely in many tissues and organs. Defects in this gene cause autosomal dominant congenital cataract (ADCC). [provided by RefSeq, Jan 2014]

CRYAA Products (2)

mRNA	Protein	Name
NM_000394.4	NP_000385.1	alpha-crystallin A chain isoform 1
NM_001363766.1	NP_001350695.1	alpha-crystallin A chain isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Referencias	Source
enables identical protein binding	IPI IPI: Inferred from physical interaction	12601044	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	11700327	GOA
enables structural molecule activity	IDA IDA: Inferred from direct assay	16303126	GOA
enables unfolded protein binding	IMP IMP: Inferred from mutant phenotype	18407550	GOA
enables unfolded protein binding	IPI IPI: Inferred from physical interaction	8943244	GOA

Biological Process GO Annotation	Evidence	Referencias	Source
involved in negative regulation of apoptotic process	IDA IDA: Inferred from direct assay	14752512	GOA
involved in negative regulation of apoptotic process	IMP IMP: Inferred from mutant phenotype	14512969	GOA
involved in negative regulation of intracellular transport	IDA IDA: Inferred from direct assay	14752512	GOA
involved in protein stabilization	IMP IMP: Inferred from mutant phenotype	12235146	GOA
involved in visual perception	IMP IMP: Inferred from mutant phenotype	9467006	GOA

Cellular Component GO Annotation	Evidence	Referencias	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	14752512	GOA
located in nucleus	IDA IDA: Inferred from direct assay	19464326	GOA
part of protein-containing complex	IDA IDA: Inferred from direct assay	16303126	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CRYAA Protein Structure

Crystallin

HSP20

0
100
173 a.a.

Protein Preferred Names	Protein Names
alpha-crystallin A chain	crystallin, alpha-1

Recombinant CRYAA Proteins

Referencia número	Nombre del producto	Accession	Pureza
HY-P7872	Alpha-crystallin A chain/CRYAA Protein, Human (His)	P02489 (M1-S173)	≥ 95%, as determined by reducing SDS-PAGE.

Related Diseases

Diseases	Alias
Cataract 9, Multiple Types	Cataract 9 Multiple Types CTRCT9 Cataract, Autosomal Dominant Catc1 Cataract 9, Multiple Types, With Or Without Microcornea Cataract, Autosomal Recessive Congenital 1 Autosomal Recessive Congenital Cataract 1 Cataract 9 Multiple Types With Or Without Microcornea Autosomal Dominant Congenital Cataract Cataract Autosomal Dominant Cataracts, Autosomal Dominant
Cataract 24	CTRCT24 Cataract 24, Anterior Polar Cataract, Anterior Polar, 2 Ctaa2 Anterior Polar Cataract 2 Early-Onset Anterior Polar Cataract Early-Onset Anterior Subcapsular Cataract Anterior Polar Cataract 24 Cataract Anterior Polar Cataract, Anterior Polar-2 Cataract, Anterior Polar
Cataract Microcornea Syndrome	Microcornea Cataract Syndrome Cataract-Microcornea Syndrome
Early-Onset Lamellar Cataract
Early-Onset Nuclear Cataract
Cataract 44	CTRCT44 Total Early-Onset Cataract Cataract 44 And Hypotrichosis Cataract And Hypotrichosis Cataract, Type 44
Eye Disease	Eye Diseases Abnormality Of The Eye Toxoplasma Oculopathy
Presbyopia	Subnormal Accommodation Accommodation Insufficiency Of Old Age
Lens Disease	Lens Diseases
Sensory System Disease
Cataract	Cataracts Cat - [Cataract] Cataract Form Lens Opacity Lens Opacities
Iris Disease	Iris Diseases
Uveal Disease	Uveal Diseases
Muscle Tissue Disease
Phacogenic Glaucoma
Congenital Aphakia	Congenital Absence Of Lens Aphakia, Congenital Primary Agenesis Of Lens
Deprivation Amblyopia	Disuse Amblyopia Stimulus Deprivation Amblyopia
Retinal Perforation	Retinal Break Retinal Perforations Retinal Dialysis Retinal Tear Retinal Break Nos Ruptured Retina
Juvenile-Onset Parkinson'S Disease	Juvenile-Onset Parkinson Disease
Vitreous Disease	Disorder Of Vitreous Body
Leukocoria	Leucocoria
Eye Accommodation Disease
Diabetic Cataract	Cataract - Diabetic
Eye Degenerative Disease
Mature Cataract	Total Or Mature Cataract Total, Mature Senile Cataract
Degeneration Of Macula And Posterior Pole	Degeneration Of Macula And Posterior Pole Of Retina Degeneration Of Macula Or Posterior Pole Macular Degeneration Nos Degenerative Disorder Of Macula Drusen Macular Degeneration Posterior Pole Macular Degeneration Of Eye Macular Eye Degeneration Macular Degeneration Of Retina, Unspecified Pseudohole Degeneration Of Macula Of Retina
Cataract 28	CTRCT28 Cataract, Age-Related Cortical, 1 Arcc1 Cataract 28, Age-Related Cortical, Susceptibility To Cataract 28, Age-Related Cortical Age-Related Cortical Cataract 1
Abruzzo-Erickson Syndrome	Abruzzo Erickson Syndrome ABERS Charge-Like Syndrome, X-Linked Cleft Palate-Coloboma-Deafness Syndrome Charge Like Syndrome X-Linked Charge-Like Syndrome Cleft Palate-Coloboma-Hearing Loss Syndrome X-Linked Charge-Like Syndrome
Muscular Disease
Neuronopathy, Distal Hereditary Motor, Type Iic	HMN2C Hmn Iic Dhmn2c Distal Hereditary Motor Neuronopathy Type 2c Distal Hereditary Motor Neuropathy Type Iic Neuronopathy, Distal Hereditary Motor, Type 2c Neuropathy, Distal Hereditary Motor, Type Iic Neuronopathy, Distal Hereditary Motor, 2c Dhmn Iic Neuropathy, Motor, Distal, Hereditary, Type 2c
Cataract 16, Multiple Types	Cataract 16 Multiple Types CTRCT16 Ctpp2 Cataract, Posterior Polar, 2 Posterior Polar Cataract 2 Cataract, Congenital Lamellar Congenital Lamellar Cataract
Central Retinal Artery Occlusion
Ayme-Gripp Syndrome	AYGRP Cataracts, Congenital, With Sensorineural Deafness, Down Syndrome-Like Facial Appearance, Short Stature, And Mental Retardation Aymé-Gripp Syndrome Fine-Lubinsky Syndrome Brachycephaly-Deafness-Cataract-Intellectual Disability Syndrome Brachycephaly-Hearing Loss-Cataract-Intellectual Disability Syndrome
Posterior Polar Cataract	Cataract, Posterior Polar
Morgagni Cataract	Hypermature Cataract Morgagnian Cataract
Immature Cataract	Incipient Cataract Incipient Senile Cataract Water Clefts
Cranial Nerve Disease	Cranial Nerve Disorder Disorder Of Cranial Nerve Cranial Nerve Diseases
Retinitis Pigmentosa 66	RP66 Retinitis Pigmentosa, Type 66
Cataract 32, Multiple Types	Cataract, Posterior Polar, 5 Ctpp5 CTRCT32 Ctaa1 Cataract, Anterior Polar Cap Cataract 32 Multiple Types Cataract, Anterior Polar, 1 Anterior Polar Cataract 1 Posterior Polar Cataract 5 Cataract, Anterior Polar 1
Retinitis Pigmentosa 29	RP29
Nance-Horan Syndrome	NHS Cataract-Dental Syndrome Cataract, X-Linked, With Hutchinsonian Teeth Mesiodens-Cataract Syndrome Cataract X-Linked With Hutchinsonian Teeth Cataract Dental Syndrome Mesiodens Cataract Syndrome
Axenfeld-Rieger Syndrome, Type 3	Axenfeld-Rieger Syndrome Type 3 RIEG3 Anterior Chamber Cleavage Syndrome Anterior Segment Mesenchymal Dysgenesis Axenfeld-Rieger Anomaly With Cardiac Defects And/Or Sensorineural Hearing Loss Axenfeld-Rieger Anomaly With Or Without Cardiac Defects And/Or Sensorineural Hearing Loss Rieger Syndrome Type 3 Axenfeld-Rieger Anomaly Rieger Syndrome, Type 3 Axenfeld-Rieger Syndrome 3 Axenfeld Anomaly Rieger Anomaly Rieger Syndrome Rieger Eye Malformation Sequence
Macular Degeneration, Age-Related, 1	Macular Degeneration Age-Related Macular Degeneration Macular Degeneration, Age-Related Age Related Macular Degeneration Age Related Macular Degeneration 1 ARMD1 Senile Macular Degeneration Maculopathy, Age-Related, 1 Macular Degeneration, Age-Related, Reduced Risk Of Age Related Maculopathy 1 Age Related Maculopathies Age Related Maculopathy Senile Macular Retinal Degeneration Macular Degeneration Of Retina Age-Related Maculopathy Amd Armd Age-Related Maculopathy, Susceptibility To Maculopathy Age-Related Macular Degeneration, Age-Related, 1, Susceptibility To Maculopathy, Age-Related Macular Degeneration, Age-Related, Type 1 Macular Degeneration, Age-Related, 2
Galactosemia Ii	Galactokinase Deficiency Galk Deficiency Galactokinase Deficiency With Cataracts Deficiency Of Galactokinase GALAC2 Galk-D Galactokinase Deficiency Galactosemia Galactosemia 2 Galactosemia Type 2 Hereditary Galactokinase Deficiency Galactokinase Deficiency, Cataract Galactosemias Galk - [Galactokinase Deficiency]
Hallermann-Streiff Syndrome	Francois Dyscephalic Syndrome HSS Hallermann'S Syndrome Oculomandibulofacial Syndrome Hallerman - Streiff Syndrome François Dyscephalic Syndrome Hallermann Streiff Francois Syndrome Hallermann Streiff Syndrome
Ocular Motility Disease	Ocular Motility Disorders Abnormality Of Eye Movement Disorder Of Eye Movements Eye Movement Disorder Eye Movement Disorders
Steroid-Induced Glaucoma	Corticosteroid-Induced Glaucoma
Anisometropia
Cataract 31, Multiple Types	Cataract, Posterior Polar, 3 Ctpp3 Cataract 31 Multiple Types CTRCT31 Cpp3 Posterior Polar Cataract 3 Cataract, Type 31, Multiple Types
West Nile Encephalitis	West-Nile Encephalitis West Nile Fever West Nile Fever Encephalitis West Nile Fever With Encephalitis West-Nile Fever Encephalitis, West Nile Fever
Neuronopathy, Distal Hereditary Motor, Type Iia	HMN2A Hmn Iia Neuropathy, Distal Hereditary Motor, Type Iia Dhmn2a Distal Hereditary Motor Neuronopathy Type 2a Distal Hereditary Motor Neuropathy Type Iia Neuronopathy, Distal Hereditary Motor, Type 2a Spinal Muscular Atrophy, Distal, Adult, Autosomal Dominant, Iia Charcot-Marie-Tooth Disease, Spinal, Iia Autosomal Dominant Adult Spinal Muscular Atrophy Iia Spinal Charcot-Marie-Tooth Disease Iia Neuronopathy, Distal Hereditary Motor, 2a Charcot-Marie-Tooth Disease Spinal Iia Spinal Muscular Atrophy Distal Adult Autosomal Dominant Iia Neuropathy, Motor, Distal, Hereditary, Type 2a
Charcot-Marie-Tooth Disease, Axonal, Type 2l	Charcot-Marie-Tooth Disease Axonal Type 2l CMT2L Autosomal Dominant Charcot-Marie-Tooth Disease Type 2l Charcot-Marie-Tooth Neuropathy, Axonal, Type 2l Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2l Autosomal Dominant Axonal Charcot-Marie-Tooth Disease Type 2l Charcot-Marie-Tooth Neuropathy Axonal Type 2l Charcot-Marie-Tooth Disease 2l Charcot-Marie-Tooth Disease Axonal Autosomal Dominant Type 2l Charcot-Marie-Tooth Disease Neuronal Type 2l Charcot-Marie-Tooth Neuropathy Type 2l Charcot-Marie-Tooth Disease, Type 2l Charcot-Marie-Tooth Disease, Type 2i
Cataract 18	Cataract, Autosomal Recessive Congenital 2 Catc2 CTRCT18 Autosomal Recessive Congenital Cataract 2 Cataract 18, Autosomal Recessive Cataract 18 Autosomal Recessive Cataract, Type 18
Spastic Ataxia 5
Night Blindness, Congenital Stationary, Type 2a	Congenital Stationary Night Blindness 2a CSNB2A Csnb2 Csnb, Incomplete, X-Linked Night Blindness, Congenital Stationary, Type 2 Night Blindness, Congenital Stationary , 2a, X-Linked Congenital Stationary Night Blindness 2a X-Linked Night Blindness, Congenital Stationary, 2a Congenital Stationary Night Blindness Type 2 Incomplete X-Linked Csnb Night Blindness, Congenital Stationary, X-Linked, Type 2a Blindness, Night, Stationary, Congenital, Type 2a
Triosephosphate Isomerase Deficiency	TPID Triose Phosphate-Isomerase Deficiency Hemolytic Anemia Due To Triosephosphate Isomerase Deficiency Tpi Deficiency Triose Phosphate Isomerase Deficiency Deficiency Of Phosphotriose Isomerase Hereditary Nonspherocytic Hemolytic Anemia Due To Triosephosphate Isomerase Deficiency
Retinitis Pigmentosa 22	RP22 Retinitis Pigmentosa-22
Cataract 48	CTRCT48
Cone-Rod Dystrophy, X-Linked, 3	CORDX3 X-Linked Cone-Rod Dystrophy 3 Cone-Rod Dystrophy X-Linked 3 Cone-Rod Dystrophy, X-Linked 3 Dystrophy, Cone-Rod, X-Linked, Type 3
Scleral Staphyloma	Scleral Ectasia Staphyloma Of Sclera
Autoimmune Disease Of Eyes, Ear, Nose And Throat
Keipert Syndrome	Nasodigitoacoustic Syndrome KPTS Nasodigitoacoustic Syndrome, Formerly
Charcot-Marie-Tooth Disease, Axonal, Type 2f	Charcot-Marie-Tooth Disease Axonal Type 2f CMT2F Charcot-Marie-Tooth Disease, Neuronal, Type 2f Charcot-Marie-Tooth Neuropathy, Type 2f Autosomal Dominant Charcot-Marie-Tooth Disease Type 2f Charcot-Marie-Tooth Neuropathy Type 2f Charcot-Marie-Tooth Neuronal Type 2f Charcot-Marie-Tooth Disease Type 2f Cmt 2f Charcot Marie Tooth Disease Type 2f Charcot-Marie-Tooth Disease 2f Charcot-Marie-Tooth Disease Neuronal Type 2f Charcot-Marie-Tooth Disease, Type 2f
Vitreoretinal Dystrophy	Vitreoretinal Dystrophies
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Glomerulonephritis With Sparse Hair And Telangiectases Telangiectatic Membranoproliferative Glomerulonephritis HLTRS Hypotrichosis-Lymphedema-Telangiectasia-Membranoproliferative Glomerulonephritis Syndrome Hlt-Renal Defect Syndrome Glomerulonephritis Sparse Hair Telangiectases
Leukodystrophy, Hypomyelinating, 4	Mitochondrial Hsp60 Chaperonopathy Hypomyelinating Leukodystrophy 4 HLD4 Mitchap60 Disease Pelizaeus-Merzbacher-Like Disease Due To Hspd1 Mutation Mitchap-60 Disease Leukodystrophy, Hypomyelinating, Type 4
Ophthalmia Neonatorum	Gonococcal Conjunctivitis Gonococcal Ophthalmia Neonatorum Neonatal Conjunctivitis
Cataract 11, Multiple Types	Cataract, Posterior Polar, 4 Ctpp4 Cpp4 Cataract 11 Multiple Types CTRCT11 Cataract 11, Syndromic, Autosomal Recessive Cataract 11 With Microphthalmia And Neurodevelopmental Abnormalities Posterior Polar Cataract 4 Posterior Polar Cataract, 4 Cataract Posterior Polar 4 Syndromic Cataract 11 Cataract, Type 11, Multiple Types
Spinocerebellar Ataxia 28	Spinocerebellar Ataxia Type 28 SCA28 Ataxia, Spinocerebellar, Type 28
Axenfeld-Rieger Syndrome, Type 1	Axenfeld-Rieger Syndrome Type 1 RIEG1 Rieg Rgs Rieger Syndrome Type 1 Rieger Syndrome, Type 1 Axenfeld-Rieger Syndrome 1 Iridogoniodysgenesis With Somatic Anomalies
Blood Group, Globoside System	Globe Disease GLOB Blood Group System, Globoside
Corneal Dystrophy, Subepithelial Mucinous	Subepithelial Mucinous Corneal Dystrophy SMCD
Senile Cataract
Amblyopia	Lazy Eye
Aniridia 1	Aniridia Congenital Aniridia AN1 An Cataract With Late-Onset Corneal Dystrophy Aplasia Of Iris Absent Iris Irideremia Aniridia Ii, Formerly An2, Formerly An2 Aniridia Type Ii Aniridia, Type 1 An-1 Absence Of Iris Agenesis Of Iris Congenital Absence Of Iris Hereditary Aniridia Sporadic Aniridia
Spastic Paraplegia 13, Autosomal Dominant	SPG13 Hereditary Spastic Paraplegia 13 Autosomal Dominant Spastic Paraplegia 13 Spastic Paraplegia 13 Autosomal Dominant Spastic Paraplegia Type 13 Spastic Paraplegia-13 Paraplegia, Spastic, Type 13
Microphthalmia, Syndromic 2	Oculofaciocardiodental Syndrome Ofcd Syndrome MCOPS2 Microphthalmia, Cataracts, Radiculomegaly, And Septal Heart Defects Syndromic Microphthalmia 2 Anop2 Cataract-Microphthalmia-Radiculomegaly-Cardiac Septal Defect Syndrome Maa2 Microphthalmia Cataracts Radiculomegaly And Septal Heart Defects Syndromic Microphthalmia Type 2 Oculo-Facio-Cardio-Dental Syndrome Anop2, Formerly Maa2, Formerly Microphthalmia Syndromic 2 Oculo Facio Cardio Dental Syndrome Microphthalmia, Syndromic, 2 Marashi-Gorlin Syndrome Microphthalmia, Cataracts, Radiculomegaly And Septal Heart Defects Microphthalmia, Syndromic, Type 2
Retinal Vascular Disease	Retinal Vascular Retinal Vascular Disorder Retina Circulation Disorder
Autosomal Dominant Distal Hereditary Motor Neuronopathy	Autosomal Dominant Distal Hereditary Motor Neuropathy Autosomal Dominant Dhmn Autosomal Dominant Distal Spinal Muscular Atrophy
Eyelid Disease	Eyelid Diseases Eyelid Disorders
Chronic Closed-Angle Glaucoma	Anatomical Narrow Angle Glaucoma Chronic Angle-Closure Glaucoma Chronic Narrow Angle Glaucoma Secondary Angle-Closure Glaucoma - Synechial
Porencephaly
Interstitial Keratitis
Autoimmune Uveitis
Refractive Error	Refractive Errors
Retinal Disease	Retinal Diseases Retinal Disorder Retinal Disorders
Distal Hereditary Motor Neuronopathy Type 2	Distal Hereditary Motor Neuropathy, Type Ii Distal Hereditary Motor Neuropathy Type 2 Distal Hereditary Motor Neuropathy Type Ii Hmn Ii Hmn2 Distal Hereditary Motor Neuronopathy, Type Ii Distal Spinal Muscular Atrophy Type 2 Dhmn2 Dsma2 Neuropathy, Motor, Distal, Hereditary, Type Ii Spinal Muscular Atrophy, Jerash Type
Saul-Wilson Syndrome	Microcephalic Osteodysplastic Dysplasia Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type SWILS Microcephalic Osteodysplastic Dysplasia Saul Wilson Type
Retinal Vascular Occlusion	Retinal Vasc. Occlusion Occlusion Of Retinal Vessels Retinal Obstruction
Pathologic Nystagmus	Nystagmus
Brain Small Vessel Disease
Megalocornea	Isolated Congenital Megalocornea Congenital Anterior Megalophthalmia Anterior Megalophthalmos Mgc1 Mgcn Congenital Keratoglobus
Optic Atrophy 3, Autosomal Dominant	Optic Atrophy 3 OPA3 Autosomal Dominant Optic Atrophy And Cataract Optic Atrophy And Cataract, Autosomal Dominant Autosomal Dominant Optic Atrophy Type 3 Optic Atrophy 3 With Cataract Opa3, Autosomal Dominant Adoac Optic Atrophy, Cataract, And Neurologic Disorder Autosomal Dominant Optic Atrophy 3 Optic Atrophy Type 3 Optic Atrophy 3 Autosomal Dominant Atrophy, Optic, Type 3, Autosomal Dominant 3-Methylglutaconic Aciduria Type 3
Retinitis Pigmentosa 1	RP1 Retinitis Pigmentosa-1 Retinitis Pigmentosa, Type 1
Macular Holes	Macular Hole
Sclerocornea	Isolated Congenital Sclerocornea
Uveitis
Metaphyseal Chondrodysplasia, Schmid Type	MCDS Schmid Metaphyseal Chondrodysplasia Metaphyseal Chondrodysplasia Schmid Type Spondylometaphyseal Dysplasia, Japanese Type Japanese Type Spondylometaphyseal Dysplasia Schmid Type Metaphyseal Dysplasia Metaphyseal Chondrodysplasia Type Schmid Schmid Type Metaphyseal Chondrodysplasia SMCD Chondrodysplasia, Metaphyseal, Schmid Type Corneal Dystrophy, Subepithelial Mucinous
Persistent Hyperplastic Primary Vitreous	Congenital Retinal Detachment Ncrna Disease Non-Syndromic Congenital Retinal Non-Attachment Pfvs Phpv Persistent Fetal Vasculature Syndrome
Sorsby Fundus Dystrophy	SFD Fundus Dystrophy, Pseudoinflammatory, Of Sorsby Sorsby'S Fundus Dystrophy Macular Dystrophy, Hemorrhagic Hemorrhagic Macular Dystrophy Pseudoinflammatory Fundus Dystrophy Of Sorsby Sorsby'S Pseudoinflammatory Macular Dystrophy Sorsby Pseudoinflammatory Fundus Dystrophy Dystrophy, Fundus, Sorsby
Syndromic Microphthalmia	Microphthalmia, Syndromic
Cone-Rod Dystrophy 3	CORD3 Dystrophy, Cone Rod, Type 3
Ck Syndrome	CKS X-Linked Intellectual Disability-Microcephaly-Cortical Malformation-Thin Habitus Syndrome Mental Retardation, X-Linked, With Thin Body Habitus And Cortical Malformation
Esotropia	Convergence In Manifest Squint Crossed Eyes Internal Strabismus Convergent Concomitant Strabismus Convergent Squint Convergent Strabismus Cross-Eye
Neovascular Glaucoma	Glaucoma, Neovascular Secondary Angle-Closure Glaucoma With Rubeosis Glaucoma Neovascular
Cerebrooculofacioskeletal Syndrome 1	Cofs Syndrome COFS1 Pena-Shokeir Syndrome Type 2 Cofs Pena-Shokeir Syndrome, Type Ii Cerebrooculofacioskeletal Syndrome Cerebro-Oculo-Facio-Skeletal Syndrome 1 Pena Shokeir Syndrome Type 2
Chromosomal Duplication Syndrome
Intraocular Pressure Quantitative Trait Locus	Glaucoma IOPQTL Glaucoma, Susceptibility To Postinfectious Glaucoma Glaucoma With Ocular Inflammation Glaucoma Secondary To Eye Inflammation Traumatic Glaucoma Glaucoma With Concussion Of Globe Glaucoma Due To Ocular Trauma Glaucoma Associated With Ocular Trauma Glaucoma Secondary To Drugs
Retinitis Pigmentosa 26	RP26 Retinitis Pigmentosa-26 Retinitis Pigmentosa, Type 26
Papillorenal Syndrome	Renal Coloboma Syndrome Coloboma Of Optic Nerve With Renal Disease Renal-Coloboma Syndrome Optic Nerve Coloboma With Renal Disease Optic Coloboma, Vesicoureteral Reflux, And Renal Anomalies Renal-Coloboma Syndrome With Macular Abnormalities Congenital Anomalies Of The Kidney And Urinary Tract With Or Without Ocular Abnormalities Cakut With Or Without Ocular Abnormalities PAPRS Optic Coloboma, Vesicoureteral Reflux And Renal Anomalies Papillo-Renal Syndrome, Optic Nerve Coloboma With Renal Disease Coloboma-Ureteral-Renal Syndrome Oncr Optic Nerve Coloboma Renal Syndrome Rcs Papillo-Renal Syndrome Optic Coloboma Vesicoureteral Reflux And Renal Anomalies
Myopia	Near-Sightedness Short-Sightedness Nearsightedness Nearsighted Near Vision Close Sighted Myopic Short-Sighted Near Sighted
Congenital Nystagmus	Nystagmus, Congenital Nystagmus Congenital
Phimosis	Tight Foreskin Tight Frenulum Congenital Phimosis
Retinal Ischemia
Alexander Disease	Alexander'S Disease ALXDRD Alexanders Leukodystrophy Axd Demyelinogenic Leukodystrophy Megalencephaly In Infancy Accompanied By Progressive Spasticity And Dementia Alx Dysmyelinogenic Leukodystrophy Fibrinoid Degeneration Of Astrocytes Leukodystrophy With Rosenthal Fibers Alexander Disease Type Ii Axd Type Ii Alexander Disease Type I Axd Type I Alexanders Disease Alexander'S Leukodystrophy
Anterior Segment Dysgenesis	Anterior Segment Developmental Anomaly Anterior Segment Mesenchymal Dysgenesis Corneal Opacification And Other Ocular Anomalies Sclerocornea With Other Ocular Anomalies Asmd Asod Anterior Segment Ocular Dysgenesis Foxe3-Related Ocular Disorder Familial Ocular Anterior Segment Mesenchymal Dysgenesis Dysgenesis, Anterior Segment Irido-Corneal Dysgenesis Axenfeld-Rieger Syndrome, Type 3
Cerebral Degeneration	Brain Degeneration Degenerative Brain Disorder
Coloboma Of Optic Nerve	Morning Glory Disc Anomaly Coloboma Of Optic Disc Morning Glory Syndrome Ectasic Coloboma Coloboma Of Optic Papilla Congenital Coloboma Of The Optic Nerve Optic Nerve Coloboma Optic Nerve Head Pits, Bilateral Congenital Volubilis Syndrome COLON Coloboma Of Optic Disc, Unspecified Eye Congenital Coloboma Of Optic Disc Optic Disk Coloboma
Coloboma Of Macula	Coloboma Congenital Ocular Coloboma Microphthalmia, Isolated, With Coloboma Agenesis Of Macula Hereditary Macular Coloboma Ocular Coloboma Coloboma Of Eye Macular Coloboma Uveoretinal Coloboma
Exudative Vitreoretinopathy 1	Retinopathy Of Prematurity Retrolental Fibroplasia EVR1 Criswick-Schepens Syndrome Rop Exudative Vitreoretinopathy, Familial, Autosomal Dominant Fevr, Autosomal Dominant Premature Retinopathy Vitreoretinopathy, Exudative 1 Autosomal Dominant Familial Exudative Vitreoretinopathy Fevr Vitreoretinopathy, Exudative, Type 1 Retinopathy Of Prematurity Nos Rlf- [Retrolental Fibroplasia] Rop - [Retinopathy Of Prematurity] Terry Syndrome
Endophthalmitis
Marinesco-Sjogren Syndrome	Marinesco-Sjögren Syndrome MSS Marinesco-Garland Syndrome Garland-Moorhouse Syndrome Hereditary Oligophrenic Cerebello-Lental Degeneration Oligophrenic Cerebellolenticular Degeneration Marinesco-Sjogren Syndrome-Hypergonadotrophic Hypogonadism Marinesco-Sjogren Syndrome-Myopathy Marinesco-Sjogren-Garland Syndrome Marinesco-Sjoegren Syndrome
Myofibrillar Myopathy	Desmin Related Myopathy Myotilinopathy Myopathy, Myofibrillar Alpha Beta Crystallinopathy Desmin Storage Myopathy Desminopathy Filaminopathy Protein Surplus Myopathy Zaspopathy Myofibrillar Myopathies Myopathy, Myofibrillar, Desmin-Related Myopathy, Desmin Storage Mfm - [Myofibrillar Myopathy]
Congenital Disorder Of Glycosylation, Type Iij	CDG2J Congenital Disorder Of Glycosylation Type Iij Cdg Iij Cdgiij Carbohydrate Deficient Glycoprotein Syndrome Type Iij Cdg Syndrome Type Iij Congenital Disorder Of Glycosylation Type 2j Cog4-Cdg Cdg-Iij Cdgiidj Congenital Disorder Of Glycosylation 2j Glycosylation, Congenital Disorder Of, Type Iij
Physical Disorder	Physical Illness
Myopathy, Myofibrillar, 2	Alpha-B Crystallinopathy Myofibrillar Myopathy 2 MFM2 Myopathy, Myofibrillar, Alpha-B Crystallin-Related Myopathy, Desmin-Related, Associated With Mutation In The Cryab Gene Myopathy, Myofibrillar, With Or Without Cataract And/Or Cardiomyopathy Alpha-B Crystallin-Related Late-Onset Myopathy Alpha-B Crystallin-Related Late-Onset Distal Myopathy Late-Onset Distal Crystallinopathy Alpha-B Crystallinopathy With Cataract Desmin-Related Myopathy With Cataract Mfm Alpha-B Crystallin-Related Myofibrillar Myopathy Alpha-B Crystallin-Related Myofibrillar Myopathy With Or Without Cataract And/Or Cardiomyopathy Myopathy Cardioskeletal Desmin-Related With Cataract Myopathy Desmin-Related Associated With Mutation In The Cryab Gene Myopathy, Cardioskeletal, Desmin-Related, With Cataract Myopathy, Myofibrillar, Type 2
Corneal Disease	Corneal Diseases Corneal Disorders
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome	Jacobs Syndrome Arthropathy-Camptodactyly Syndrome Pericarditis-Arthropathy-Camptodactyly Syndrome Xyy Syndrome Pac Syndrome Cacp Syndrome CACP Fibrosing Serositis, Familial Camptodactyly-Arthropathy-Pericarditis Syndrome Cap Syndrome 47, Xyy Syndrome 47,Xyy Syndrome Double Y Syndrome Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome Hypertrophic Synovitis, Congenital Familial Congenital Familial Hypertrophic Synovitis Xyy Karyotype Y Disomy Yy Syndrome Familial Fibrosing Serositis Disomy Y Double Y Camptodactyly Arthropathy Coxa Vara Pericarditis Syndrome Arthropathy Camptodactyly Syndrome Camptodactyly Arthropathy Pericarditis Syndrome Pericarditis Arthropathy Camptodactyly Syndrome Jacob'S Syndrome 47,Xyy Cdags Syndrome
Cerebrotendinous Xanthomatosis	CTX Cerebral Cholesterinosis Cholestanol Storage Disease Xanthomatosis, Cerebrotendinous Sterol 27-Hydroxylase Deficiency Xanthomatosis Cerebrotendinous Cerebrotendinous Cholesterinosis Cholestanolosis Van Bogaert-Scherer-Epstein Disease
Lowe Oculocerebrorenal Syndrome	Lowe Syndrome Oculocerebrorenal Syndrome OCRL Oculocerebrorenal Syndrome Of Lowe Ocrl1 Phosphatidylinositol 4,5-Bisphosphate 5-Phosphatase Deficiency Lowe Disease Phosphatidylinositol 4,5-Biphosphate 5-Phosphatase Deficiency Cerebrooculorenal Syndrome Phosphatidylinositol-4,5-Bisphosphate-5-Phosphatase Deficiency Lowe Oculo-Cerebro-Renal Dystrophy Lowe Oculo-Cerebro-Renal Syndrome Lowe Oculocerebrorenal Dystrophy Low Chromosome 11p Deletion Syndrome Oculocerebrorenal Dystrophy Cerebro-Oculorenal Dystrophy Ocrl1 - [Oculocerebrorenal Syndrome] Lowe-Terrey-Maclachlan Syndrome Renal-Oculocerebrodystrophy
Axenfeld-Rieger Syndrome	Axenfeld Syndrome Rieger Syndrome Rieger Anomaly Axenfeld Anomaly Anomaly, Rieger'S Hagedoom Syndrome Rgs - Rieger Syndrome Rieger'S Anomaly Goniodysgenesis Hypodontia Iridogoniodysgenesis With Somatic Anomalies Ars Axenfeld And Rieger Anomaly Axra Axrs Rieger Eye Malformation Sequence
Short Syndrome	Short Stature, Hyperextensibility, Hernia, Ocular Depression, Rieger Anomaly, And Teething Delay Aarskog-Ose-Pande Syndrome Lipodystrophy, Partial, With Rieger Anomaly And Short Stature Lipodystrophy-Rieger Anomaly-Diabetes Syndrome Rieger Anomaly-Partial Lipodystrophy Syndrome Partial Lipodystrophy With Rieger Anomaly And Short Stature Short Stature, Hyperextensibility, Hernia, Ocular Depression, Rieger Anomaly And Teething Delay Growth Retardation-Rieger Anomaly Short Stature-Hyperextensibility-Rieger Anomaly-Teething Delay SHORTS
Exudative Vitreoretinopathy	Familial Exudative Vitreoretinopathy Fevr Criswick-Schepens Syndrome Exudative Vitreoretinopathy, Familial Vitreoretinopathy, Exudative ) Exudative Vitreoretinopathy 1
Gyrate Atrophy Of Choroid And Retina	Gyrate Atrophy Ornithine Aminotransferase Deficiency HOGA Hyperornithinemia With Gyrate Atrophy Of Choroid And Retina Oat Deficiency Okt Deficiency Hyperornithinemia Ornithine Keto Acid Aminotransferase Deficiency Ornithine-Delta-Aminotransferase Deficiency Gyrate Atrophy Of The Choroid And Retina GACR Gyrate Atrophy Of Choroid And Retina With Or Without Ornithinemia Gyrate Atrophy Of The Retina Ornithinemia With Gyrate Atrophy Ornithinemia Fuchs Atrophia Gyrata Chorioideae Et Retinae Hyperornithinemia-Gyrate Atrophy Of Choroid And Retina Syndrome Gyrate Atrophy Of The Choroid And/Or Retina Girate Atrophy Of The Retina Ornithine Ketoacid Aminotransferase Deficiency Atrophy, Gyrate, Of Choroid And Retina
Glaucoma, Normal Tension	Low Tension Glaucoma Glaucoma, Normal Tension, Susceptibility To Normal Tension Glaucoma Ntg Glaucoma, Normal Pressure NPG Glaucoma, Normal Pressure, Susceptibility To Poag/Npg - [Normal Pressure Primary Open-Angle Glaucoma]
Creutzfeldt-Jakob Disease	Variant Creutzfeldt-Jakob Disease CJD Bovine Spongiform Encephalopathy Vcjd Inherited Creutzfeldt-Jakob Disease Creutzfeldt-Jakob Disease, Familial Creutzfeldt Jakob Disease Creutzfeldt-Jacob Disease Creutzfeldt Jacob Disease Sporadic Creutzfeldt-Jakob Disease Encephalopathy, Bovine Spongiform Creutzfeldt-Jakob Disease, Variant, Resistance To Creutzfeldt-Jakob Disease, Variant Creutzfeldt Jacob Syndrome Jakob-Creutzfeldt Disease Subacute Spongiform Encephalopathy Transmissible Virus Dementia New Variant Of Cjd Nv-Cjd Variant Cjd Variant Creutzfeldt-Jacob Disease Sporadic Cjd Inherited Cjd Acquired Creutzfeldt-Jakob Disease Variant Mcj Encephalopathy Bovine Spongiform Familial Creutzfeldt-Jakob Disease Creutzfeldt-Jakob Syndrome New Variant Creutzfeldt-Jakob Disease Creutzfeldt-Jakob Disease, Sporadic Acquired Cjd Scjd - [Sporadic Creutzfeldt-Jakob Disease] Idiopathic Creutzfeldt-Jakob Disease Creutzfeld-Jakob Disease Nos Vcjd - [Variant Creutzfeldt-Jakob Disease]
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Kennedy Disease Sbma Spinal And Bulbar Muscular Atrophy Kennedy'S Disease X-Linked Spinal And Bulbar Muscular Atrophy SMAX1 Kd Kennedy Spinal And Bulbar Muscular Atrophy Spinobulbar Muscular Atrophy Bulbospinal Muscular Atrophy, X-Linked Bulbospinal Neuronopathy, X-Linked Recessive Xbsn Spinal And Bulbar Muscular Atrophy Of Kennedy Bulbospinal Muscular Atrophy X-Linked Bulbospinal Amyotrophy Bulbo-Spinal Atrophy, X-Linked Spinal Bulbar Muscular Atrophy X-Linked Bulbo-Spinal Atrophy X-Linked Spinal Bulbar Muscular Atrophy X-Linked Bsma X-Linked Bulbospinal Muscular Atrophy Spinal And Bulbar Muscular Atrophy X-Linked 1 Bulbospinal Muscular Atrophy X-Linked Bulbospinal Neuronopathy X-Linked Recessive Kennedy Disease) Kennedy Syndrome Atrophy, Muscular, Spinal And Bulbar, Kennedy Type Atrophy, Muscular, Spinobulbar Bulbospinal Neuronopathy
Peters-Plus Syndrome	Krause-Kivlin Syndrome Peters Plus Syndrome Peters Anomaly Irido-Corneo-Trabecular Dysgenesis PTRPLS Peters Anomaly With Short-Limb Dwarfism Peters Anomaly-Short Limb Dwarfism Syndrome Peters Anomaly With Short Limb Dwarfism Peters Congenital Glaucoma Krause-Van Schooneveld-Kivlin Syndrome Peters' Plus Syndrome Peters'-Plus Syndrome Anomaly Peters
Microphthalmia	Microphthalmos Isolated Anophthalmia-Microphthalmia Syndrome Isolated Microphthalmia-Anophthalmia-Coloboma Simple Microphthalmos Clinical Anophthalmia Isolated Anophthalmia - Microphthalmia Isolated Pure Microphthalmia Mac Spectrum Microphthalmia-Anophthalmia-Coloboma Spectrum Primitive Anophthalmia Globe Of Eye Small Small Eyeball Hypoplasia Of Eye Isolated Nanophthalmos Rudimentary Eye Dysplasia Of Eye
Microvascular Complications Of Diabetes 5	Diabetic Retinopathy Microvascular Complications Of Diabetes, Susceptibility To, 5 MVCD5 Retinopathy, Diabetic Diabetic Nephropathy Retinopathy, Diabetic, Susceptibility To Retinal Abnormality - Diabetes-Related
Galactosemia I	Galactosemia Galt Deficiency Classic Galactosemia Galactose-1-Phosphate Uridylyltransferase Deficiency Galactose-1-Phosphate Uridyltransferase Deficiency GALAC1 Galactosemia, Classic Galactosemia Type 1 Galactosemias Classical Galactosemia Galactosaemia Galactose Intolerance Epimerase Deficiency Galactosemia Galactokinase Deficiency Disease Galactose Epimerase Deficiency Galactose-1-Phosphate Uridyl-Transferase Deficiency Disease Gale Deficiency Galk Deficiency Udp-Galactose-4-Epimerase Deficiency Disease Utp Hexose-1-Phosphate Uridylyltransferase Deficiency Galactosemia 1 Galactosemia, Duarte Variant Deficiency Of Galactokinase Udpglucose 4-Epimerase Deficiency Disease Classical Galactosaemia Galput Deficiency - [Galactose-4-Phosphate Uridyltransferase] Deficiency Classic Galactosaemia Deficiency Of Hexose-1-Phosphate Uridylyltransferase Deficiency Of Udpglucose-Hexose-1-Phosphate Uridylyltransferase Deficiency Of Galactose-1-Phosphate Uridylyltransferase Galactose-1-Phosphate Uridyl Transferase Deficiency Transferase Deficiency Galactosemia Deficiency Of Uridyl Transferase Deficiency Of Utp-Hexose-1-Phosphate Uridylyltransferase Utp-Hexose-1-Phosphate Uridyltransferase Deficiency
Chromosomal Disease	Chromosomal Disorders Congenital Chromosomal Disease
Alport Syndrome	Hereditary Nephritis Alport Syndrome, X-Linked Hemorrhagic Hereditary Nephritis Congenital Hereditary Hematuria Hemorrhagic Familial Nephritis Familial Nephritis Thin Basement Membrane Disease Thin Basement Membrane Nephropathy Hematuria-Nephropathy-Deafness Syndrome Hematuric Hereditary Nephritis Hereditary Familial Congenital Hemorrhagic Nephritis Hereditary Hematuria Syndrome Hereditary Interstitial Pyelonephritis Alport Deafness-Nephropathy Alport Hearing Loss-Nephropathy Alports Syndrome Nephritis, Hereditary
Glaucoma, Primary Open Angle	Glaucoma 1, Open Angle, E Primary Open Angle Glaucoma POAG Adult-Onset Primary Open Angle Glaucoma Chronic Simple Glaucoma GLC1E Primary Open Angle Glaucoma 1e Glaucoma, Open Angle, Primary
Amyotrophic Lateral Sclerosis Type 12	Amyotrophic Lateral Sclerosis 12 Als12 Sclerosis, Lateral, Amyotrophic, Type Type 12
Kuhnt-Junius Degeneration	Neovascular Age-Related Macular Degeneration Exudative Senile Macular Degeneration Of Retina Senile Macular Degeneration, Wet Wet Senile Macular Retinal Degeneration Exudative Age-Related Macular Degeneration Exudative Macular Degeneration
Ullrich Congenital Muscular Dystrophy 1	Ullrich Congenital Muscular Dystrophy Ullrich Disease Ucmd Ullrich Scleroatonic Muscular Dystrophy Scleroatonic Muscular Dystrophy UCMD1 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 22 Lgmdr22 Muscular Dystrophy, Scleroatonic Late Onset Scleroatonic Familial Myopathy Congenital Muscular Dystrophy, Ullrich Type
Primary Angle-Closure Glaucoma	Primary Angle Closure Glaucoma Angle Closure Glaucoma Acg - [Angle Closure Glaucoma] Angle-Closure Glaucoma Closed Angle Glaucoma Acute Glaucoma Prodromal Angle Closure Glaucoma
Corneal Dystrophy And Perceptive Deafness	Corneal Dystrophy-Perceptive Deafness Syndrome CDPD Harboyan Syndrome Cdpd1 Corneal Dystrophy And Sensorineural Deafness Corneal Endothelial Dystrophy And Perceptive Deafness Corneal Dystrophy With Progressive Deafness Congenital Corneal Dystrophy, Progressive Sensorineural Deafness Corneal Dystrophy With Progressive Hearing Loss Corneal Dystrophy-Perceptive Hearing Loss Syndrome Dystrophy, Corneal, Endothelial, And Perceptive Deafness
Optic Nerve Disease	Optic Neuropathy Disorder Of The Second Nerve Optic Nerve Disorder Optic Nerve Abnormality Of The Optic Nerve Optic Nerve Disorders Neuropathy, Optic Disorder Of The Optic Nerve
Norrie Disease	Atrophia Bulborum Hereditaria Episkopi Blindness Pseudoglioma ND Norrie-Warburg Disease Anderson-Warburg Syndrome Fetal Iritis Syndrome Norrie Syndrome Norrie-Warburg Syndrome Ndp Congenital Progressive Oculo-Acoustico-Cerebral Degeneration Norrie'S Disease Oligophrenia Microphthalmus Pseudoglioma Congenita Whitnall-Norman Syndrome
Stickler Syndrome	Arthroophthalmopathy Hereditary Arthro-Ophthalmo-Dystrophy Hereditary Arthro-Ophthalmopathy Stickler Dysplasia Hereditary Progressive Arthroophthalmopathy Stickler Syndrome, Type 1
Bethlem Myopathy 1	Bethlem Myopathy Myopathy, Benign Congenital, With Contractures Muscular Dystrophy, Benign Congenital BTHLM1 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 5 Lgmdd5 Benign Congenital Muscular Dystrophy Benign Autosomal Dominant Myopathy Myopathy, Bethlem Myopathy, Bethlem, Type 1
Ochronosis
Early-Onset Parkinson'S Disease	Early-Onset Parkinson Disease
Xanthomatosis	Xanthomatosis, Susceptibility To Xanthelasmatosis
Exotropia	Divergent Concomitant Strabismus Divergent Strabismus Divergent Squint External Strabismus Xt - [Exotropia]
Juvenile Glaucoma	Glaucoma Of Childhood Hydrophthalmos
Vitreous Syneresis	Vitreous Degeneration
Ocular Melanoma	Intraocular Melanoma Uveal Melanoma Eye Melanoma Melanoma Of Eye Melanoma Of The Uvea Malignant Melanoma Of Eye
Retinal Artery Occlusion	Retina Artery Narrowing Retinal Artery Spasm Spasm Of Ophthalmic Artery Retinal Spasm Vasospasm Of Retina
Peripheral Nervous System Disease	Peripheral Neuropathy Peripheral Nerve Disease Peripheral Nerve Disorders Neuropathy, Peripheral Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation
Kaufman Oculocerebrofacial Syndrome	KOS Blepharophimosis-Ptosis-Intellectual Disability Syndrome Oculocerebrofacial Syndrome, Kaufman Type Bpids Blepharophimosis Ptosis Intellectual Disability Syndrome Blepharophimosis-Ptosis-Intellectual Disability Syndrome Severe Intellectual Disability, Microcephaly, Long Narrow Face, Ocular Anomalies, And Long Thin Hands And Feet Bpid Syndrome
Astigmatism
Corneal Ulcer	Cornea Ulcer Ulcerative Keratitis Corneal Ulcer Nos
Vitreoretinopathy, Neovascular Inflammatory	Proliferative Vitreoretinopathy Adniv Autosomal Dominant Neovascular Inflammatory Vitreoretinopathy VRNI Pvr Neovascular Inflammatory Vitreoretinopathy Vitreoretinopathy, Neovascular Inflammatory, Autosomal Dominant Retinitis Proliferans Neovascular Inflammatory Vitreoretinopathy Autosomal Dominant Vitreoretinopathy Proliferative Vitreoretinopathy, Proliferative Proliferative Vitreo-Retinopathy
Ocular Hypertension	Hypertension, Ocular Intraocular Pressure Increase Oh - [Ocular Hypertension] Oht - [Ocular Hypertension]
Inherited Metabolic Disorder	Inborn Errors Of Metabolism Inborn Metabolic Disorder Inborn Metabolism Disorder Metabolic Hereditary Disorder Inborn Error Of Metabolism Metabolism, Inborn Errors
X-Linked Chondrodysplasia Punctata 2	Happle Syndrome Cdpx2 Conradi-Hünermann Syndrome Chondrodysplasia Punctata 2, X-Linked X-Linked Dominant Chondrodysplasia Punctata Conradi-Hunermann Syndrome Conradi-Hünermann-Happle Syndrome Cdpxd Cpxd Chondrodystrophia Calcificans Congenita Conradi-Hunermann-Happle Syndrome X-Linked Chondrodysplasia Punctata Type 2 Chondrodysplasia Punctata, X-Linked Dominant Type
Multiple Pterygium Syndrome, Escobar Variant	Multiple Pterygium Syndrome Pterygium Escobar Syndrome EVMPS Pterygium Syndrome Autosomal Recessive Multiple Pterygium Syndrome Pterygium Colli Syndrome Pterygium Universale Autosomal Recessive Non-Lethal Multiple Pterygium Syndrome Escobar Variant Multiple Pterygium Syndrome Multiple Pterygium Syndrome, Nonlethal Type Surfer'S Eye Multiple Pterygium Syndrome Escobar Type Multiple Pterygium Syndrome Nonlethal Type Familial Pterygium Syndrome Pterygium Colli Multiple Pterygium Syndrome, Non-Lethal Type Nonlethal Type Multiple Pterygium Syndrome Pterygium Syndrome, Multiple, Escobar Type Pterygium Of Eye Web Eye
Open-Angle Glaucoma	Glaucoma Simplex Pigmentary Glaucoma Wide-Angle Glaucoma Glaucoma, Open-Angle Open Angle Glaucoma Glaucoma Open-Angle Chronic Simple Glaucoma Coag - [Chronic Open-Angle Glaucoma] Csg - [Chronic Simple Glaucoma] Poag - [Primary Open-Angle Glaucoma] Oag - [Open-Angle Glaucoma] Chronic Glaucoma Chronic Open Angle Glaucoma Simple Glaucoma Chronic Noncongestive Glaucoma Ltg - [Low Tension Glaucoma] Noncongestive Glaucoma Nonobstructive Glaucoma Normal Pressure Glaucoma Primary Low Tension Glaucoma Low-Tension Glaucoma Residual Stage Low Tension Glaucoma Open Cleft Glaucoma
Carbohydrate Metabolic Disorder	Inborn Errors Of Carbohydrate Metabolism Disorder Of Carbohydrate Metabolism Carbohydrate Metabolism, Inborn Errors Disorder Of Carbohydrate Transport And Metabolism Inborn Carbohydrate Metabolism Disorder Inborn Carbohydrate Metabolic Disorder Carbohydrate Metabolism Disorder Carbohydrate Metabolism Disorders Disorders Of Carbohydrate Metabolism Congenital Disorders Of Carbohydrate Metabolism Inherited Disorders Of Carbohydrate Metabolism
Neuromuscular Disease	Neuromuscular Diseases Neuromuscular Disorders Neuromuscular Disorder
Wolfram Syndrome 1	WFS1 Didmoad Wfs Diabetes Mellitus And Insipidus With Optic Atrophy And Deafness Diabetes Insipidus And Mellitus With Optic Atrophy And Deafness Diabetes Insipidus And Mellitus With Optic Atrophy And Deafness Syndrome Wolfram Syndrome
Congenital Ptosis	Congenital Blepharoptosis Congenital Eyelid Ptosis
Color Blindness	Color Vision Defect Blindness Color Colour Blindness Colour Vision Deficiency Color Vision Deficiency Color Vision Defects Defective Color Vision Vision Defect, Color Color-Vision Disease Dyschromatopsia
Keratitis, Hereditary	Keratitis Autosomal Dominant Keratitis Hereditary Keratitis Dominantly Inherited Keratitis Keratitis Hereditary KERH
Leber Congenital Amaurosis 3	LCA3 Retinitis Pigmentosa 94, Variable Age At Onset, Autosomal Recessive Leber Congenital Amaurosis, Type 3 Leber Congenital Amaurosis Type 3
Wilson Disease	Hepatolenticular Degeneration WD Wilson'S Disease WND Westphal-Strumpell Syndrome Copper Storage Disease Cerebral Pseudosclerosis Westphal Pseudosclerosis Hepatolenticular Degeneration Syndrome Copper Retention Hepatocerebral Degeneration Kinnier-Wilson Disease Neurohepatic Degeneration Progressive Hepatolenticular Degeneration Lenticular Degenerative Disease Wilson'S Syndrome Lenticular Syndrome
Ectropion	Ectropion Of Eyelid Everted Margin Eversion Of The Eyelid Eyelashes Turned Out Eyelid Everted Eyelid Turned Out Unspecified Ectropion Of Unspecified Eye
Autoimmune Disease Of Central Nervous System
Retinal Cancer	Malignant Neoplasm Of Retina Retinal Neoplasms Malignant Retinal Neoplasm Malignant Tumor Of Retina Neoplasm Of Retina Retinal Tumor Retinal Neoplasm Cancer Of The Retina Malignant Retinal Tumour Malignant Tumour Of Retina Primary Malignant Neoplasm Of Retina
Glucose Metabolism Disease	Glucose Metabolism Disorders Disorder Of Glucose Metabolism
Wolf-Hirschhorn Syndrome	Pitt-Rogers-Danks Syndrome WHS Chromosome 4p16.3 Deletion Syndrome Wittwer Syndrome 4p- Syndrome Pitt Syndrome 4p Deletion Syndrome Distal Deletion 4p Distal Monosomy 4p Telomeric Deletion 4p Prds 4p Syndrome Chromosome 4p Syndrome Microcephaly, Iugr, Hypertelorism, Ptosis, Iris Coloboma, Hooked Nose, External Ear Dysplasia, Psychomotor Retardation Wolf Syndrome Chromosome 4p Deletion Syndrome Chromosome 4p Monosomy Del Syndrome Monosomy 4p Partial Monosomy 4p Chromosome 4 Short Arm Deletion
Dry Eye Syndrome	Dry Eye Syndromes Dry Eye Disease Tear Film Insufficiency Xerophthalmia
Lacrimal Apparatus Disease	Lacrimal Apparatus Diseases
Ocular Cancer	Eye Neoplasm Eye Carcinoma Eye Cancer Eye Neoplasms Malignant Eye Neoplasm Neoplasm Of Eye Neoplasm Of Eye Proper Ocular Tumor Carcinoma Of Eye Ocular Carcinoma Malignant Tumor Of Eye
Nervous System Disease	Abnormality Of The Nervous System Nervous System Diseases Nervous System Disorder
Congenital Stationary Night Blindness	Night Blindness, Congenital Stationary Congenital Essential Nyctalopia Oguchi Disease Blindness, Night, Stationary, Congenital
Corneal Dystrophy
Isolated Growth Hormone Deficiency, Type Ia	Ighd Ia Primordial Dwarfism Isolated Growth Hormone Deficiency Type Ia Sexual Ateleiotic Dwarfism Pituitary Dwarfism I IGHD1A Illig-Type Growth Hormone Deficiency Growth Hormone Deficiency, Isolated, Type Ia Congenital Ighd Type Ia Congenital Isolated Gh Deficiency Type Ia Congenital Isolated Growth Hormone Deficiency Type Ia Pituitary Dwarfism 1 Growth Hormone Deficiency, Isolated, Autosomal Recessive Autosomal Recessive Isolated Growth Hormone Deficiency Isolated Growth Hormone Deficiency Type 1a Congenital Ighd Congenital Isolated Gh Deficiency Congenital Isolated Growth Hormone Deficiency Growth Hormone Deficiency, Isolated Autosomal Recessive Illig Type Growth Hormone Deficiency Non-Acquired Isolated Growth Hormone Deficiency Growth Hormone Deficiency, Isolated, 1a Growth Hormone Deficiency Isolated Autosomal Recessive Dwarfism, Primordial Dwarfism
Hereditary Sensory Neuropathy	Hereditary Sensory And Autonomic Neuropathy Hereditary Sensory And Autonomic Neuropathies Familial Dysautonomia, Type Ii Hsan Sensory Neuropathy Hereditary Neuropathy, Sensory And Autonomic, Hereditary Neuropathy, Sensory, Hereditary Sensory Neuropathy, Hereditary Charcot-Marie-Tooth Disease Cmt - [Charcot-Marie-Tooth Disease]
Autosomal Dominant Cerebellar Ataxia	Spinocerebellar Ataxia Adca Pierre Marie Cerebellar Ataxia Ataxia, Spinocerebellar Sca Autosomal Dominant Spinocerebellar Ataxia Spinocerebellar Ataxias
Amino Acid Metabolic Disorder	Amino Acid Metabolism, Inborn Errors Inborn Errors Of Amino Acid Metabolism Disorder Of Amino Acid Metabolism Amino Acid Metabolism Disorders
Melanoma, Uveal	Uveal Melanoma Choroidal Melanoma Melanoma Of Uvea Iris Melanoma Malignant Melanoma Of Choroid Malignant Melanoma Of Iris
Strabismus	Strabismus, Susceptibility To Strabismus, Susceptibility To, 1 Strabismus 1
Demyelinating Disease	Demyelinating Diseases Demyelinating Disorder
Metal Metabolism Disorder	Metal Metabolism, Inborn Errors Inborn Metal Metabolism Disorder
Cone Dystrophy	Retinal Cone Dystrophy Dystrophy, Cone Cone Dystrophy 3
Central Nervous System Disease	Cns Disorder CNS Cns Diseases Central Nervous System Diseases
Spinal Muscular Atrophy	Sma 5q Sma Proximal Sma Sma-Associated Sma Spinal Amyotrophies Spinal Amyotrophy Spinal Muscle Degeneration Spinal Muscle Wasting Muscular Atrophy Spinal Atrophy, Muscular, Spinal Hereditary Motor Neuronopathy Progressive Muscular Atrophy Sma - [Spinal Muscular Atrophy]
Retinal Degeneration	Degeneration Of Retina
Achromatopsia	Achm Rod Monochromatism Total Color Blindness Rod Monochromacy Monochromatism Achromatism Complete Or Incomplete Color Blindness Pingelapese Blindness Achromatopsia 1 Achromatopsia 2 Achromatopsia 3
Limb-Girdle Muscular Dystrophy	Lgmd Limb Girdle Muscular Dystrophy Muscular Dystrophies, Limb-Girdle Erb'S Muscular Dystrophy Leyden-Mbius Muscular Dystrophy Limb-Girdle Syndrome Myopathic Limb-Girdle Syndrome Limb Girdle Muscular Dystrophy Limb-Girdle Dystrophy, Muscular, Limb-Girdle Lgmd - [Limb-Girdle Muscular Dystrophy] Limb Girdle Muscle Dystrophy Limb-Girdle Myopathy
Leukodystrophy	Leukodystrophies
Heart Disease	Heart Failure Congenital Heart Disease Heart Diseases Congenital Heart Defects Congenital Heart Defect Heart Malformation Congenital Anomaly Of Heart Heart Defect Heart-Congenital Defect Congenital Heart Disorder Heart Defects Congenital Heart Defects, Congenital Heart Defects Heart Disease, Congenital Disease, Heart, Congenital Congestive Heart Failure
Hereditary Ataxia	Sca Spinocerebellar Ataxia Ataxias Hereditary Ataxias, Hereditary
Leber Plus Disease	Leber Congenital Amaurosis Lca Leber'S Amaurosis Leber'S Disease Amaurosis Congenita Of Leber Amaurosis Congenita Of Leber, Type 1 Lhon Plus Disease Congenital Absence Of The Rods And Cones Congenital Retinal Blindness Crb Congenital Amaurosis Of Retinal Origin Leber'S Congenital Amaurosis Leber Congenital Amaurosis 1 Leber'S Congenital Tapetoretinal Degeneration Leber'S Congenital Tapetoretinal Dysplasia Lca1 Leber Congenital Amaurosis Type 1 Retinal Blindness, Congenital Amaurosis, Leber Congenital Dysgenesis Neuroepithelialis Retinae Hereditary Epithelial Dysplasia Of Retina Hereditary Retinal Aplasia Heredoretinopathia Congenitalis Leber Abiotrophy Leber Congenital Tapetoretinal Degeneration Lebers Congenital Amaurosis Optic Atrophy, Hereditary, Leber
Charcot-Marie-Tooth Disease	Cmt Hmsn Hereditary Motor And Sensory Neuropathy Pma Cmt - Charcot-Marie-Tooth Disease Charcot Marie Tooth Disease Charcot-Marie-Tooth Hereditary Neuropathy Charcot-Marie-Tooth Syndrome Peroneal Muscular Atrophy Hereditary Motor And Sensory Neuropathies
Fundus Dystrophy	Retinal Dystrophy Retinal Dystrophies Dystrophy, Retinal
Thyroid Gland Anaplastic Carcinoma	Anaplastic Thyroid Carcinoma Anaplastic Thyroid Cancer Thyroid Cancer, Anaplastic Thyroid Carcinoma, Anaplastic Thyroid Carcinoma Anaplastic
Motor Neuron Disease	Anterior Horn Cell Disease Motor Neuron Diseases Mnd - [Motor Neurone Disease] Lou Gehrig Disease Creeping Palsy Creeping Paralysis Bulbar Motor Neuron Disease Bulbar Syndrome Anterior Horn Cell Disorder Hereditary Motor Neuron Disease
Cerebellar Disease	Cerebellar Diseases Cerebellar Dysfunction Cerebellar Abnormality Cerebellar Disorders
Myopathy	Muscular Diseases Myopathies
Leber Hereditary Optic Neuropathy, Modifier Of	Leber Optic Atrophy Leber Hereditary Optic Neuropathy LHON Leber'S Hereditary Optic Neuropathy Leber Optic Atrophy, Susceptibility To Leber'S Optic Atrophy LOAM Loas Leber'S Disease Leber'S Optic Neuropathy Optic Atrophy, Hereditary, Leber Lhon, Modifier Of Optic Atrophy, Leber Type Hereditary Optic Neuroretinopathy Leber Hereditary Optic Atrophy Loa Optic Atrophy Leber Type Leber Hereditary Optic Neuropathy, Modifier Leber Hereditary Optic Neuropathy Susceptibility Modifier Of Leber Hereditary Optic Neuropathy Lebers Hereditary Optic Neuropathy Leber Congenital Amaurosis
Amyotrophic Lateral Sclerosis 1	Amyotrophic Lateral Sclerosis ALS Lou Gehrig Disease Amyotrophic Lateral Sclerosis Type 1 Charcot Disease ALS1 Amyotrophic Lateral Sclerosis, Susceptibility To Fals Lou Gehrig'S Disease Mnd Motor Neuron Disease Familial Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis 1, Familial Amyotrophic Lateral Sclerosis 1, Autosomal Dominant Motor Neuron Disease, Bulbar Motor Neurone Disease Amyotrophic Lateral Sclerosis With Dementia Dementia With Amyotrophic Lateral Sclerosis Motor Neuron Disease, Amyotrophic Lateral Sclerosis Sclerosis, Lateral, Amyotrophic Sclerosis, Lateral, Amyotrophic, Type 1 Amyotrophic Sclerosis Als - [Amyotrophic Lateral Sclerosis] Wasting Palsy Amyotrophic Paralysis Amyotrophy Lateral Sclerosis Wasting Paralysis Spinal Progressive Amyotrophy Progressive Atrophic Paralysis
Spastic Ataxia	Spax Ataxia, Spastic
Cone-Rod Dystrophy 2	Cone-Rod Dystrophy CORD2 Cone-Rod Retinal Dystrophy Rcrd2 Cone-Rod Retinal Dystrophy 2 Crd2 Cord Crd Retinal Cone-Rod Dystrophy Cone-Rod Retinal Dystrophy-2 Retinal Cone-Rod Dystrophy 2 Tapetoretinal Degeneration Cone-Rod Degeneration Cone Rod Dystrophy Dystrophy, Cone-Rod Dystrophy, Cone-Rod, Type 2 Retinitis Pigmentosa Retinitis Pigmentosa 2 Progressive Cone-Rod Dystrophy
Retinitis Pigmentosa	RP Rod-Cone Dystrophy Autosomal Recessive Retinitis Pigmentosa Non-Syndromic Retinitis Pigmentosa Pericentral Pigmentary Retinopathy Pigmentary Retinopathy Tapetoretinal Degeneration Rcd Retinitis Pigmentosa Autosomal Recessive ARRP Retinitis Pigmentosa, Autosomal Recessive Retinitis Pigmentosa 1
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder
Parkinson Disease, Late-Onset	Parkinson Disease Parkinson'S Disease PD PARK Parkinson Disease, Susceptibility To Late Onset Parkinson'S Disease Late Onset Parkinson Disease Paralysis Agitans Primary Parkinsonism Idiopathic Parkinson Disease Parkinson'S Parkinson Disease, Late-Onset, Susceptibility To Parkinson Disease, Age Of Onset, Modifier Lewy Body Parkinson Disease Idiopathic Parkinson'S Disease Pd - [Parkinson Disease] Parkinson Disease Nos Parkinson, Nos Primary Parkinson Disease
Dilated Cardiomyopathy	Familial Dilated Cardiomyopathy Primary Dilated Cardiomyopathy Idiopathic Dilated Cardiomyopathy Congestive Cardiomyopathy Idiopathic Dilation Cardiomyopathy Primary Familial Dilated Cardiomyopathy Cardiomyopathy, Dilated DCM Cardiomyopathy, Familial Dilated Dilated Cardiomyopathy, Familial Hypokinetic Dilated Cardiomyopathy, Familial Familial Idiopathic Cardiomyopathy Fdc Cardiomyopathy, Familial Idiopathic Idiopathic Cardiomegaly Dilated Congestive Cardiomyopathy Chronic Dilated Cardiomyopathy Ccm - [Congestive Cardiomyopathy] Cocm - [Congestive Cardiomyopathy] Dcm - [Dilated Cardiomyopathy] Dilated-Hypokinetic Cardiomyopathy Congestive Idiopathic Cardiomyopathy Primary Idiopathic Dilated Cardiomyopathy
Alzheimer Disease, Familial, 1	Alzheimer Disease Alzheimer'S Disease Presenile And Senile Dementia AD1 Alzheimer Disease, Susceptibility To Alzheimer Disease, Late-Onset, Susceptibility To Alzheimer Disease 1, Familial AD Familial Alzheimer Disease Alzheimer Disease, Late-Onset Alzheimers Dementia Alzheimer Dementia Alzheimer Sclerosis Alzheimer Syndrome Alzheimer-Type Dementia Dat Primary Senile Degenerative Dementia Sdat Alzheimer Disease 1 Autosomal Dominant Alzheimer Disease Early-Onset Alzheimer Disease With Cerebral Amyloid Angiopathy Late Onset Alzheimer Disease Alzheimers Disease Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy Late-Onset Alzheimers Disease Alzheimer'S Disease Pathway Kegg Dementia Due To Alzheimer'S Disease Alzheimer Disease Type 1 Alzheimers
Connective Tissue Disease	Connective Tissue Diseases Connective Tissue Disorder Abnormality Of Connective Tissue Disorder Of Connective Tissue Connective Tissue Disorders

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Referencia número	Nombre del producto	Efecto	Pureza	Rare Diseases
HY-RS03206	CRYAA Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS20005	Cryaa Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS26508	Cryaa Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	CRYAA	RGD	RGD:2413
Mus musculus	CRYAA	MGD	MGI:88515