Gene: Top2a MGI:98790

Log in to follow

Gene Summary

Name:
topoisomerase (DNA) II alpha
Synonyms:
DNA Topoisomerase II alpha,  Top-2

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, complete penetrance Top2aem2(IMPC)Tcp HOM   Early adult 0.00
increased circulating alkaline phosphatase level Top2aem2(IMPC)Tcp HET Early adult 1.29×10-13
abnormal cornea morphology Top2aem2(IMPC)Tcp HET   Late adult 1.46×10-05
increased circulating aspartate transaminase level Top2aem2(IMPC)Tcp HET Early adult 2.62×10-06
abnormal lens morphology Top2aem2(IMPC)Tcp HET   Late adult 4.83×10-07
increased mean corpuscular hemoglobin Top2aem2(IMPC)Tcp HET   Early adult 2.34×10-05
increased mean corpuscular volume Top2aem2(IMPC)Tcp HET   Early adult 2.67×10-06
cataract Top2aem2(IMPC)Tcp HET   Late adult 5.94×10-05
prenatal lethality prior to heart atrial septation Top2aem2(IMPC)Tcp HOM   E15.5 0.00
embryonic lethality prior to organogenesis Top2aem2(IMPC)Tcp HOM   E9.5 0.00
corneal opacity Top2aem2(IMPC)Tcp HET   Late adult 1.18×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Skull Lateral Orientation

10 Images

Eye Morphology

Images Ophthalmoscopy

164 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Histopathology

Images

17 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Eye Morphology

Images Slit Lamp

3 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Eye Morphology

Images Slit Lamp

33 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Eye Morphology

Images Ophthalmoscopy

8 Images

Combined SHIRPA and Dysmorphology

Images

1 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Histopathology

Images

1 Images

Immunophenotyping

Panel A FCS file(s)

6 Images

Immunophenotyping

Panel B FCS file(s)

6 Images

Human diseases caused by Top2a mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Top2a by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Neuroblastoma
ORPHA:635

The table below shows human diseases predicted to be associated to Top2a by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cataract 20, Multiple Types
OMIM:116100
Corneal Dystrophy, Band-Shaped
OMIM:217500
Spondyloepiphyseal Dysplasia With Punctate Corneal Dystrophy
OMIM:183850
Megalocornea
OMIM:249300
Corneal Dystrophy, Posterior Polymorphous, 2
OMIM:609140
Corneal Degeneration, Band-Shaped Spheroid
OMIM:217520
Corneal Dystrophy, Lisch Epithelial
OMIM:300778
Corneal Dystrophy, Fuchs Endothelial, 8
OMIM:615523
Hereditary Hyperferritinemia-Cataract Syndrome
ORPHA:163
Cataract 29
OMIM:115800
Cataract 35
OMIM:609376
Cataract 36
OMIM:613887
Cataract 18
OMIM:610019
Cataract 4, Multiple Types
OMIM:115700
Cataract 39, Multiple Types
OMIM:615188
Cataract 13 With Adult I Phenotype
OMIM:116700
Cataract 37
OMIM:614422
Cataract 45
OMIM:616851
Cataract 38
OMIM:614691
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
OMIM:205950
Corneal Dystrophy, Endothelial, X-Linked
OMIM:300779
Dermoids Of Cornea
OMIM:304730
Corneal Dystrophy, Subepithelial Mucinous
OMIM:612867
Cataract And Congenital Ichthyosis
OMIM:212400
Hemoglobin E-Beta-Thalassemia Syndrome
ORPHA:231249
Hypertrophic Neuropathy And Cataract
OMIM:239900
Facial Paresis, Hereditary Congenital, 1
OMIM:601471
Cochleosaccular Degeneration With Progressive Cataracts
OMIM:120040
Cataract 44
OMIM:616509
Aniridia 3
OMIM:617142
Corneal Dystrophy, Groenouw Type I
OMIM:121900
Corneal Hypesthesia, Familial
OMIM:122450
Corneal Dystrophy, Epithelial Basement Membrane
OMIM:121820
Central Cloudy Dystrophy Of Francois
OMIM:217600
Schnyder Corneal Dystrophy
OMIM:121800
Cataract-Microcornea Syndrome
ORPHA:1377
Cornea Plana 1, Autosomal Dominant
OMIM:121400
Corneal Dystrophy-Perceptive Deafness Syndrome
ORPHA:1490
Microcornea, Glaucoma, And Absent Frontal Sinuses
OMIM:156700
Keratitis, Hereditary
OMIM:148190
Hydrocephaly-Cerebellar Agenesis Syndrome
ORPHA:1397
Trichomegaly
OMIM:190330
Aldh18A1-Related De Barsy Syndrome
ORPHA:35664
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
OMIM:206000
Cataract 12, Multiple Types
OMIM:611597
Corneal Degeneration, Ribbonlike, With Deafness
OMIM:121450
Pupillary Membrane, Persistence Of
OMIM:178900
Corneal Dystrophy, Lattice Type I
OMIM:122200
Anemia, Hypochromic Microcytic, With Iron Overload 1
OMIM:206100
Cataract 7
OMIM:115660
Morquio Syndrome C
OMIM:252300
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
ORPHA:73245
Microphthalmia, Isolated 2
OMIM:610093
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
OMIM:212500
Corneal Dystrophy, Avellino Type
OMIM:607541
X-Linked Corneal Dermoid
ORPHA:1661
Galactosemia Iv
OMIM:618881
Nathalie Syndrome
ORPHA:2663
Familial pterygium of the conjunctiva
ORPHA:2989
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
OMIM:300719
Macular Dystrophy, Corneal
OMIM:217800
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
ORPHA:3177
Hemoglobin-Delta locus
OMIM:142000
Uncombable Hair Syndrome 2
OMIM:617251
Cataract-Nephropathy-Encephalopathy Syndrome
ORPHA:1380
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia
OMIM:271320
Muscle Cramps, Familial
OMIM:158400
Cramps, Familial Adolescent
OMIM:218050
Glaucoma 3, Primary Congenital, D
OMIM:613086
Corneal Dystrophy And Perceptive Deafness
OMIM:217400
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
OMIM:252270
Ring Dermoid Of Cornea
OMIM:180550
Corneal Dystrophy, Reis-Bucklers Type
OMIM:608470
Dehydrated Hereditary Stomatocytosis 2
OMIM:616689
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
OMIM:106230
Galactosialidosis
ORPHA:351
Foveal Hypoplasia 1
OMIM:136520
Dermochondrocorneal Dystrophy
ORPHA:79149
Chorea, Remitting, With Nystagmus And Cataract
OMIM:601372
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
ORPHA:79281
Cataract 47
OMIM:612018
Mucous Membrane Pemphigoid
ORPHA:46486
Pentosuria
ORPHA:2843
Cataract-Ataxia-Deafness-Retardation Syndrome
OMIM:212710
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
OMIM:613076
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
OMIM:274205
Congenital Corneal Opacities, Cornea Guttata, And Corectopia
OMIM:608484
Genetic Hyperferritinemia Without Iron Overload
ORPHA:254704
Thalassemia, Beta+, Silent Allele
OMIM:187550
X-Linked Retinoschisis
ORPHA:792
Foveal Hypoplasia-Presenile Cataract Syndrome
ORPHA:2253
Thiel-Behnke Corneal Dystrophy
ORPHA:98960
Diamond-Blackfan Anemia 3
OMIM:610629
Spinocerebellar Degeneration And Corneal Dystrophy
OMIM:271310
Galactosemia Ii
OMIM:230200
Microphthalmia, Isolated, With Coloboma 3
OMIM:610092
Winchester Syndrome
OMIM:277950
Fetal Hemoglobin Quantitative Trait Locus 1
OMIM:141749
Cataract 42
OMIM:115900
Microphthalmia, Isolated, With Cataract 1
OMIM:156850
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
OMIM:254000
Familial Pseudohyperkalemia
ORPHA:90044
Anemia, Hypochromic Microcytic, With Iron Overload 2
OMIM:615234
Corneal Dystrophy, Fuchs Endothelial, 1
OMIM:136800
Iris Pigment Layer, Cleavage Of
OMIM:147610
Corneal Endothelial Dystrophy
OMIM:217700
Corneal Dystrophy, Lattice Type Iiia
OMIM:608471
X-Linked Endothelial Corneal Dystrophy
ORPHA:293621
Corneal Dystrophy, Fleck
OMIM:121850
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
OMIM:619041
Lattice Corneal Dystrophy Type I
ORPHA:98964
Macrosomia-Microphthalmia-Cleft Palate Syndrome
ORPHA:2432
Dehydrated Hereditary Stomatocytosis
ORPHA:3202
Intrinsic Factor Deficiency
OMIM:261000
Cataract 1, Multiple Types
OMIM:116200
Cataract 14, Multiple Types
OMIM:601885
Spastic Paraparesis And Deafness
OMIM:312910
Acetophenetidin Sensitivity
OMIM:200300
Delta-Beta-Thalassemia
ORPHA:231237
Spinocerebellar Ataxia, Autosomal Recessive 24
OMIM:617133
Sclerocornea, Autosomal Dominant
OMIM:181700
Sickle Cell Anemia
ORPHA:232
Apolipoprotein A-I Deficiency
ORPHA:425
Stickler Syndrome Type 2
ORPHA:90654
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
ORPHA:1067
Alg2-Cdg
ORPHA:79326
Hemoglobin H Disease
OMIM:613978
Anterior Segment Dysgenesis 7
OMIM:269400
Aniridia 2
OMIM:617141
Cataract 41
OMIM:116400
Corneal Dystrophy, Fuchs Endothelial, 2
OMIM:610158
Anterior Segment Dysgenesis 1
OMIM:107250
Proximal Myotonic Myopathy
ORPHA:606
Hemoglobin C-Beta-Thalassemia Syndrome
ORPHA:231242
Cataract 9, Multiple Types
OMIM:604219
Hemolytic Anemia Due To Glutathione Reductase Deficiency
OMIM:618660
Corneal Dystrophy, Fuchs Endothelial, 4
OMIM:613268
Anterior Segment Dysgenesis 6
OMIM:617315
Peters Anomaly
ORPHA:708
Megalocornea
OMIM:309300
Corneal Dystrophy, Meesmann, 1
OMIM:122100
Nathalie Syndrome
OMIM:255990
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
OMIM:610156
Congenital Dyserythropoietic Anemia Type Iii
ORPHA:98870
Cornea Plana 2, Autosomal Recessive
OMIM:217300
Leber Congenital Amaurosis 7
OMIM:613829
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
OMIM:619082
Cataract 10, Multiple Types
OMIM:600881
Cataract 8, Multiple Types
OMIM:115665
Methemoglobinemia, Beta Type
OMIM:617971
Methemoglobinemia, Alpha Type
OMIM:617973
Congenital Hereditary Endothelial Dystrophy Type Ii
ORPHA:293603
Diamond-Blackfan Anemia 8
OMIM:612563
Corneal Dystrophy, Fuchs Endothelial, 6
OMIM:613270
Rutherfurd Syndrome
OMIM:180900
Cataract 22, Multiple Types
OMIM:609741
Ichthyosis, X-Linked
OMIM:308100
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
OMIM:616860
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
ORPHA:231393
Corneal Dystrophy, Thiel-Behnke Type
OMIM:602082
Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts
OMIM:225740
Bilateral Striopallidodentate Calcinosis
ORPHA:1980
Microphthalmia, Isolated, With Coloboma 4
OMIM:251505
Macular Corneal Dystrophy
ORPHA:98969
Cataract 15, Multiple Types
OMIM:615274
Cataract 21, Multiple Types
OMIM:610202
Dysequilibrium Syndrome
ORPHA:1766
Cortical Dysplasia, Complex, With Other Brain Malformations 4
OMIM:615412
Optic Atrophy 3, Autosomal Dominant
OMIM:165300
Bardet-Biedl Syndrome 18
OMIM:615995
Overhydrated Hereditary Stomatocytosis
ORPHA:3203
Keratoendotheliitis Fugax Hereditaria
OMIM:148200
Cataract 43
OMIM:616279
Congenital Primary Aphakia
ORPHA:83461
Cataract 11, Multiple Types
OMIM:610623
Edict Syndrome
OMIM:614303
Keratoconus 1
OMIM:148300
Corneal Dystrophy, Posterior Polymorphous, 3
OMIM:609141
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
ORPHA:46532
Corneal Dystrophy, Congenital Stromal
OMIM:610048
Retinitis Pigmentosa 84
OMIM:618220
Myopia 17, Autosomal Dominant
OMIM:608367
Alpha-Thalassemia Myelodysplasia Syndrome
OMIM:300448
Bone Marrow Failure Syndrome 6
OMIM:618849
Corneal Dystrophy, Posterior Polymorphous, 1
OMIM:122000
Corneal Dystrophy, Gelatinous Drop-Like
OMIM:204870
Cataract 17, Multiple Types
OMIM:611544
Congenital Disorder Of Glycosylation, Type Ii
OMIM:607906
Hypomyelination-Congenital Cataract Syndrome
ORPHA:85163
Elliptocytosis 3
OMIM:617948
Oculoauricular Syndrome
OMIM:612109
Limbal Stem Cell Deficiency
ORPHA:171673
Glutathione Peroxidase Deficiency
OMIM:614164
Keratoconus 6
OMIM:614623
Keratoconus 5
OMIM:614622
Keratoconus 8
OMIM:614628
Keratoconus 7
OMIM:614629
Cataract 3, Multiple Types
OMIM:601547
Oslam Syndrome
ORPHA:2760
Fish-Eye Disease
OMIM:136120
Hyperferritinemia With Or Without Cataract
OMIM:600886
Cataract-Deafness-Hypogonadism Syndrome
ORPHA:1383
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
ORPHA:1473
Thanatophoric Dysplasia, Glasgow Variant
OMIM:273680
Alg8-Cdg
ORPHA:79325
Anterior Segment Dysgenesis 5
OMIM:604229
Spastic Paraparesis-Deafness Syndrome
ORPHA:2815
Aniridia-Intellectual Disability Syndrome
ORPHA:1068
Anterior Segment Dysgenesis 8
OMIM:617319
Ectopia Lentis Et Pupillae
OMIM:225200
Spastic Ataxia-Corneal Dystrophy Syndrome
ORPHA:2572
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
OMIM:604278
Glaucoma 3, Primary Congenital, E
OMIM:617272
Leg, Absence Deformity Of, With Congenital Cataract
OMIM:246000
Amoebic Keratitis
ORPHA:67043
Epithelial Recurrent Erosion Dystrophy
ORPHA:293381
Amyloidosis Of Gingiva And Conjunctiva, With Mental Retardation
OMIM:204850
Coats Disease
ORPHA:190
Microphthalmia, Isolated 3
OMIM:611038
Pellagra-Like Syndrome
OMIM:260650
Cataract, Microcephaly, Failure To Thrive, Kyphoscoliosis Syndrome
OMIM:212540
Leber Congenital Amaurosis 6
OMIM:613826
Anterior Segment Dysgenesis 2
OMIM:610256
Exfoliation Syndrome
OMIM:177650
Herpes Simplex Virus Stromal Keratitis
ORPHA:137599
Autosomal Dominant Keratitis
ORPHA:2334
Cataract 16, Multiple Types
OMIM:613763
Aniridia And Absent Patella
OMIM:106220
Cataract, Age-Related Nuclear
OMIM:601371
Congenital Amegakaryocytic Thrombocytopenia
ORPHA:3319
Peroxisome Biogenesis Disorder 10A (Zellweger)
OMIM:614882
Blue Cone Monochromatism
ORPHA:16
Bilateral Acute Depigmentation Of The Iris
ORPHA:69736
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
ORPHA:2278
Leber Congenital Amaurosis 8
OMIM:613835
Cochleosaccular Degeneration-Cataract Syndrome
ORPHA:3233
Corneal Dystrophy, Posterior Amorphous
OMIM:612868
Myopia, High, With Cataract And Vitreoretinal Degeneration
OMIM:614292
Cyanosis, Transient Neonatal
OMIM:613977
Anterior Segment Dysgenesis 3
OMIM:601631
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
ORPHA:1369
Retinitis Pigmentosa 23
OMIM:300424
Cataract 2, Multiple Types
OMIM:604307
Autosomal Recessive Spastic Paraplegia Type 69
ORPHA:401830
Methylmalonic Aciduria And Homocystinuria, Cbld Type
OMIM:277410
Ectopia Lentis 2, Isolated, Autosomal Recessive
OMIM:225100
Ectopia Lentis 1, Isolated, Autosomal Dominant
OMIM:129600
Isolated Aniridia
ORPHA:250923
Congenital Varicella Syndrome
ORPHA:291
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
ORPHA:300298
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
OMIM:609115
Iron-Refractory Iron Deficiency Anemia
OMIM:206200
Kyrle Disease
OMIM:149500
Cataract 5, Multiple Types
OMIM:116800
Marsili Syndrome
OMIM:147430
Epithelial Recurrent Erosion Dystrophy
OMIM:122400
Exudative Vitreoretinopathy 6
OMIM:616468
Diamond-Blackfan Anemia 6
OMIM:612561
Beta-Thalassemia
OMIM:613985
Alpha-Thalassemia
OMIM:604131
Supernumerary Nostril
ORPHA:141096
Corneal Dystrophy, Meesmann, 2
OMIM:618767
Vitreoretinal Degeneration, Snowflake Type
OMIM:193230
Gómez-López-Hernández Syndrome
ORPHA:1532
Hypogonadism-Cataract Syndrome
OMIM:240950
Intellectual Developmental Disorder And Retinitis Pigmentosa
OMIM:618195
Cataract 30, Multiple Types
OMIM:116300
Leber Congenital Amaurosis 2
OMIM:204100
Brittle Cornea Syndrome 2
OMIM:614170
Cornea Guttata With Anterior Polar Cataracts
OMIM:121390
Kahrizi Syndrome
OMIM:612713
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
OMIM:615418
Dermochondrocorneal Dystrophy
OMIM:221800
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type
OMIM:300261
Glaucoma-Ectopia Lentis-Microspherophakia-Stiff Joints-Short Stature Syndrome
ORPHA:2084
Retinitis Pigmentosa 4
OMIM:613731
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
ORPHA:766
Posterior Polymorphous Corneal Dystrophy
ORPHA:98973
Absence Deformity Of Leg-Cataract Syndrome
ORPHA:2310
Refractory Anemia With Excess Blasts
ORPHA:86839
Microcephaly-Microcornea Syndrome, Seemanova Type
ORPHA:2528
Atopic Keratoconjunctivitis
ORPHA:163934
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
OMIM:183800
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
ORPHA:2370
Mucopolysaccharidoses, Unclassified Types
OMIM:252700
Intellectual Disability-Cataracts-Kyphosis Syndrome
ORPHA:171860
Alpha-Thalassemia
ORPHA:846
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
OMIM:120433
Majeed Syndrome
OMIM:609628
Vernal Keratoconjunctivitis
ORPHA:70476
Xeroderma Pigmentosum, Complementation Group G
OMIM:278780
Neuropathy, Hereditary Sensory And Autonomic, Type Viii
OMIM:616488
Methylcobalamin Deficiency Type Cble
ORPHA:2169
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
OMIM:618815
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
OMIM:251750
Cataract 24
OMIM:601202
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
OMIM:611590
Leber Congenital Amaurosis 16
OMIM:614186
X-Linked Intellectual Disability, Stocco Dos Santos Type
ORPHA:85288
Retinitis Pigmentosa 2
OMIM:312600
Cystinosis, Adult Nonnephropathic
OMIM:219750
Cataract 6, Multiple Types
OMIM:116600
Cataract 32, Multiple Types
OMIM:115650
Cataract 31, Multiple Types
OMIM:605387
Olmsted Syndrome 1
OMIM:614594
Retinitis Pigmentosa And Erythrocytic Microcytosis
OMIM:616959
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
OMIM:617393
Mucolipidosis Type Iii
ORPHA:577
Hyperlipoproteinemia, Type Ii, And Deafness
OMIM:144300
Ehlers-Danlos Syndrome, Beasley-Cohen Type
OMIM:608763
Microcornea, Myopic Chorioretinal Atrophy, And Telecanthus
OMIM:615458
Mucolipidosis Iv
OMIM:252650
Generalized Eruptive Keratoacanthoma
ORPHA:411777
Recessive X-Linked Ichthyosis
ORPHA:461
Peroxisome Biogenesis Disorder 8A (Zellweger)
OMIM:614876
Ocular Cystinosis
ORPHA:411641
Retinitis Pigmentosa 9
OMIM:180104
Retinitis Pigmentosa 37
OMIM:611131
Weill-Marchesani Syndrome 4
OMIM:613195
Cataract 40
OMIM:302200
Norrie Disease
OMIM:310600
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
ORPHA:2489
Congenital Cataracts, Hearing Loss, And Neurodegeneration
OMIM:614482
Fish-Eye Disease
ORPHA:79292
Alpha-Thalassemia-Myelodysplastic Syndrome
ORPHA:231401
Lecithin:Cholesterol Acyltransferase Deficiency
OMIM:245900
Sjogren-Larsson Syndrome
OMIM:270200
Erythrokeratodermia Variabilis
ORPHA:317
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
OMIM:616171
Cataract 33, Multiple Types
OMIM:611391
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
OMIM:212550
Isolated Optic Nerve Hypoplasia/Aplasia
ORPHA:137902
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
OMIM:614195
Lcat Deficiency
ORPHA:650
X-Linked Immunoneurologic Disorder
ORPHA:2571
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
ORPHA:1875
Wagner Vitreoretinopathy
OMIM:143200
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome
ORPHA:1373
Galactose Epimerase Deficiency
ORPHA:79238
3-Methylglutaconic Aciduria, Type Vii
OMIM:616271
Ophthalmomandibulomelic Dysplasia
ORPHA:2741
Oculocerebral Hypopigmentation Syndrome Of Preus
OMIM:257790
Bartsocas-Papas Syndrome 2
OMIM:619339
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
ORPHA:1381
Achromatopsia 3
OMIM:262300
Xp22.3 Microdeletion Syndrome
ORPHA:1643
Developmental And Epileptic Encephalopathy 35
OMIM:616647
Combined Oxidative Phosphorylation Deficiency 31
OMIM:617228
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
OMIM:613153
Galactose Mutarotase Deficiency
ORPHA:570422
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
OMIM:221900
Shwachman-Diamond Syndrome
ORPHA:811
Peroxisome Biogenesis Disorder 11B
OMIM:614885
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
OMIM:152950
Coloboma, Ocular, Autosomal Recessive
OMIM:216820
Neurotrophic Keratopathy
ORPHA:137596
Dermatitis, Atopic
OMIM:603165
Ichthyosis, Congenital, Autosomal Recessive 11
OMIM:602400
Leber Congenital Amaurosis 1
OMIM:204000
Scheie Syndrome
OMIM:607016
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract
OMIM:616722
Usher Syndrome Type 3
ORPHA:231183
Beta-Thalassemia
ORPHA:848
Brachyolmia Type 1, Toledo Type
OMIM:271630
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts
OMIM:600559
Beta-Thalassemia Intermedia
ORPHA:231222
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
OMIM:615877
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
OMIM:613154
Congenital Rubella Syndrome
ORPHA:290
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
OMIM:617404
Microphthalmia, Isolated, With Coloboma 9
OMIM:615145
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
ORPHA:231736
Hypoparathyroidism, Familial Isolated, 1
OMIM:146200
Hurler-Scheie Syndrome
ORPHA:93476
Mietens Syndrome
ORPHA:2557
Leber Congenital Amaurosis
ORPHA:65
Aniridia-Absent Patella Syndrome
ORPHA:1069
Diamond-Blackfan Anemia 7
OMIM:612562
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14
OMIM:615352
Cataract 23, Multiple Types
OMIM:610425
Peroxisome Biogenesis Disorder 9B
OMIM:614879
Hemochromatosis, Type 4
OMIM:606069
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
ORPHA:1064
3-Methylglutaconic Aciduria Type 4
ORPHA:67048
Myopathy, Myofibrillar, 2
OMIM:608810
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
OMIM:102730
Rodrigues Blindness
OMIM:268320
Dwarfism With Stiff Joints And Ocular Abnormalities
OMIM:127200
Polycystic Kidney, Cataract, And Congenital Blindness
OMIM:263100
Coloboma, Ocular, Autosomal Dominant
OMIM:120200
Blindness-Scoliosis-Arachnodactyly Syndrome
ORPHA:171844
Ectodermal Dysplasia-Blindness Syndrome
ORPHA:1806
Gm1-Gangliosidosis, Type Iii
OMIM:230650
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
ORPHA:85172
Cutis Laxa, Autosomal Dominant 3
OMIM:616603
Cahmr Syndrome
OMIM:211770
Retinopathy, Pigmentary, And Mental Retardation
OMIM:268050
Syndromic Recessive X-Linked Ichthyosis
ORPHA:281090
Sialidosis Type 2
ORPHA:87876
Spondylometaphyseal Dysplasia With Corneal Dystrophy
OMIM:618961
Blackfan-Diamond Anemia
ORPHA:124
Hereditary Bullous Dystrophy, Macular Type
ORPHA:1867
Cone-Rod Dystrophy 16
OMIM:614500
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
OMIM:613730
Isolated Ectopia Lentis
ORPHA:1885
Alpha-Mannosidosis
ORPHA:61
Ophthalmomandibulomelic Dysplasia
OMIM:164900
Retinal Dystrophy With Or Without Macular Staphyloma
OMIM:617547
16Q24.3 Microdeletion Syndrome
ORPHA:261250
Microphthalmia With Brain And Digit Anomalies
ORPHA:139471
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
ORPHA:1366
Stiff Skin Syndrome
OMIM:184900
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
ORPHA:1345
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
OMIM:614878
Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma
OMIM:609313
Alacrima, Congenital, Autosomal Recessive
OMIM:601549
Woolly Hair
ORPHA:170
Short Syndrome
ORPHA:3163
Dominant Beta-Thalassemia
ORPHA:231226
Trichothiodystrophy 3, Photosensitive
OMIM:616395
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
OMIM:602562
Cataracts, Spastic Paraparesis, And Speech Delay
OMIM:619338
Elliptocytosis 2
OMIM:130600
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
OMIM:132450
Beta-Thalassemia Major
ORPHA:231214
Hereditary Leiomyomatosis And Renal Cell Cancer
ORPHA:523
Nasopalpebral Lipoma-Coloboma Syndrome
ORPHA:2399
Hypergonadotropic Hypogonadism-Cataract Syndrome
ORPHA:2410
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
OMIM:615704
Mevalonic Aciduria
ORPHA:29
Lissencephaly 8
OMIM:617255
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
OMIM:601794
Dyschondrosteosis-Nephritis Syndrome
ORPHA:1765
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
ORPHA:496790
Senior-Loken Syndrome
ORPHA:3156
Autosomal Recessive Stickler Syndrome
ORPHA:250984
Dystonia, Juvenile-Onset
OMIM:607371
Osteoporosis-Pseudoglioma Syndrome
ORPHA:2788
Usher Syndrome Type 1
ORPHA:231169
Joubert Syndrome 9
OMIM:612285
Morning Glory Disc Anomaly
ORPHA:35737
Chromosome 8Q21.11 Deletion Syndrome
OMIM:614230
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
OMIM:618278
Peroxisome Biogenesis Disorder 10B
OMIM:617370
Oculomaxillofacial Dysostosis
ORPHA:1794
Wagr Syndrome
ORPHA:893
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
OMIM:601356
Hepatic Lipase Deficiency
OMIM:614025
Hypercholesterolemia, Familial, 3
OMIM:603776
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
ORPHA:363741
Hypercholesterolemia, Familial, 1
OMIM:143890
Hb Bart'S Hydrops Fetalis
ORPHA:163596
Aniridia 1
OMIM:106210
Mucolipidosis Type Iv
ORPHA:578
Primary Familial Polycythemia
ORPHA:90042
Tyrosinemia Type 2
ORPHA:28378
Infantile Spasms-Broad Thumbs Syndrome
ORPHA:3173
Sialidosis Type 1
ORPHA:812
Alpha-Mannosidosis, Adult Form
ORPHA:309288
Pelvis-Shoulder Dysplasia
OMIM:169550
Monilethrix
ORPHA:573
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
OMIM:250800
Chondrodysplasia Punctata 1, X-Linked Recessive
OMIM:302950
Linear Verrucous Nevus Syndrome
ORPHA:2611
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
OMIM:219900
Brittle Cornea Syndrome 1
OMIM:229200
Hypercholesterolemia, Familial, 2
OMIM:144010
Nance-Horan Syndrome
ORPHA:627
Alport Syndrome 2, Autosomal Recessive
OMIM:203780
Weill-Marchesani Syndrome
ORPHA:3449
Hurler-Scheie Syndrome
OMIM:607015
Insensitivity To Pain, Congenital, With Anhidrosis
OMIM:256800
Premature Aging Syndrome, Okamoto Type
OMIM:601811
Scheie Syndrome
ORPHA:93474
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
OMIM:215250
Ifap Syndrome 2
OMIM:619016
Bartsocas-Papas Syndrome
ORPHA:1234
Juvenile Sialidosis Type 2
ORPHA:93399
Multiple Sulfatase Deficiency
ORPHA:585
Hereditary Mucoepithelial Dysplasia
ORPHA:1839
Autoimmune Polyendocrinopathy Type 1
ORPHA:3453
Gyrate Atrophy Of Choroid And Retina
ORPHA:414
Galactosialidosis
OMIM:256540
Microcephaly 10, Primary, Autosomal Recessive
OMIM:615095
8Q21.11 Microdeletion Syndrome
ORPHA:284160
Nevus Comedonicus Syndrome
ORPHA:64754
Congenital Sialidosis Type 2
ORPHA:93400
Enamel Hypoplasia, Cataracts, And Aqueductal Stenosis
OMIM:600907
Zellweger Syndrome
ORPHA:912