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Gene: Dsg1b MGI:2664357

Gene Summary

Name:

desmoglein 1 beta

Synonyms:

Dsg5

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

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	Allele	Zyg	Life Stage	P Value
abnormal eyelid morphology	Dsg1b^{tm1a(KOMP)Wtsi}	HOM	Early adult	2.97×10^-13
increased bone mineral content	Dsg1b^{tm1a(KOMP)Wtsi}	HOM	Early adult	2.68×10^-05
cataract	Dsg1b^{tm1a(KOMP)Wtsi}	HOM	Early adult	1.38×10^-05
abnormal iris morphology	Dsg1b^{tm1a(KOMP)Wtsi}	HOM	Early adult	2.78×10^-05
thrombocytopenia	Dsg1b^{tm1a(KOMP)Wtsi}	HOM	Early adult	1.29×10^-05
abnormal lens morphology	Dsg1b^{tm1a(KOMP)Wtsi}	HOM	Early adult	1.38×10^-05
abnormal cornea morphology	Dsg1b^{tm1a(KOMP)Wtsi}	HOM	Early adult	5.22×10^-08
abnormal coat appearance	Dsg1b^{tm1a(KOMP)Wtsi}	HOM	Early adult	2.06×10^-06

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X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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Legacy Phenotype Associated Images

Dsg1b^{tm1a(KOMP)Wtsi}
WT, Female, WTSI

View all 85 images

Dsg1b^{tm1a(KOMP)Wtsi}
abnormal eyelid morphology, right eye, HOM, Male, WTSI

Dsg1b^{tm1a(KOMP)Wtsi}
left eye, HOM, Male, WTSI

Dsg1b^{tm1a(KOMP)Wtsi}
right eye, HOM, Female, WTSI

Dsg1b^{tm1a(KOMP)Wtsi}
right eye, HOM, Male, WTSI

Dsg1b^{tm1a(KOMP)Wtsi}
abnormal eyelid morphology, left eye, HOM, Female, WTSI

View all 20 images

Dsg1b^{tm1a(KOMP)Wtsi}
back skin, HOM, Female, WTSI

Human diseases caused by Dsg1b 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.

Human diseases associated with Dsg1b (3 diseases)
Human diseases predicted to be associated with Dsg1b (798 diseases)

The table below shows human diseases associated to Dsg1b by orthology or direct annotation.

Disease	Matching phenotypes	Source
Striate Palmoplantar Keratoderma	Abnormal hair morphology	ORPHA:50942
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Sparse hair	OMIM:615508
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse	Yellow nails, Nail dystrophy	OMIM:148700

The table below shows human diseases predicted to be associated to Dsg1b by phenotypic similarity.

Disease	Matching phenotypes	Source
Hypertrophic Neuropathy And Cataract	Cataract	OMIM:239900
Trichomegaly	Cataract, Long eyelashes	OMIM:190330
Ectopia Lentis 2, Isolated, Autosomal Recessive	Ectopia lentis	OMIM:225100
Ectopia Lentis 1, Isolated, Autosomal Dominant	Ectopia lentis	OMIM:129600
Hereditary Hyperferritinemia-Cataract Syndrome	Cataract	ORPHA:163
Cataract 35	Cataract	OMIM:609376
Cataract 36	Cataract	OMIM:613887
Cataract 29	Cataract	OMIM:115800
Corneal Dystrophy, Lisch Epithelial	Corneal dystrophy	OMIM:300778
Cataract And Congenital Ichthyosis	Cataract	OMIM:212400
Cochleosaccular Degeneration With Progressive Cataracts	Progressive cataract	OMIM:120040
Iris Pigment Epithelium Anomalies	Iris cyst	OMIM:601616
Uncombable Hair Syndrome 2	Uncombable hair, Juvenile cataract, Pili canaliculi	OMIM:617251
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features	Upslanted palpebral fissure, Epicanthus, Iris cyst, Ptosis	OMIM:620086
Corneal Dystrophy, Groenouw Type I	Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy	OMIM:121900
Hydrocephaly-Cerebellar Agenesis Syndrome	Cataract	ORPHA:1397
Pupillary Membrane, Persistence Of	Developmental cataract, Megalocornea, Persistent pupillary membrane	OMIM:178900
Ring Dermoid Of Cornea	Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con...	OMIM:180550
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome	Cataract	ORPHA:73245
Peroxisome Biogenesis Disorder 10A (Zellweger)	Epiphyseal stippling, Epicanthus, Cataract, Downslanted palpebral fissures	OMIM:614882
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness	Cataract, Chorioretinal coloboma	OMIM:274205
Aldh18A1-Related De Barsy Syndrome	Cataract	ORPHA:35664
Cataract 42	Cataract, Developmental cataract	OMIM:115900
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Alopecia, Cataract, Corneal opacity, Hypopigmentation of hair, Aplasia/Hypoplasia of the iris, Pe...	ORPHA:1067
Cataract-Microcornea Syndrome	Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma	ORPHA:1377
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities	Cataract	OMIM:300719
Nathalie Syndrome	Cataract	ORPHA:2663
Woolly Hair	Hypopigmentation of hair, Brittle hair, Cataract, Slow-growing hair, Abnormality of hair texture,...	ORPHA:170
Cataract 12, Multiple Types	Progressive cataract, Developmental cataract	OMIM:611597
Corneal Dystrophy, Epithelial Basement Membrane	Map-dot-fingerprint corneal dystrophy, Corneal dystrophy, Recurrent corneal erosions	OMIM:121820
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Cataract	ORPHA:79281
Corneal Dystrophy, Posterior Polymorphous, 2	Corneal opacity, Corneal dystrophy	OMIM:609140
Foveal Hypoplasia-Presenile Cataract Syndrome	Cataract	ORPHA:2253
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy	Juvenile cataract	OMIM:212500
Corneal Dystrophy, Endothelial, X-Linked	Corneal opacity, Corneal dystrophy, Band keratopathy	OMIM:300779
X-Linked Retinoschisis	Cataract	ORPHA:792
Megalocornea	Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d...	OMIM:309300
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly, Cataract	OMIM:619813
Anterior Segment Dysgenesis 8	Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi...	OMIM:617319
Bilateral Striopallidodentate Calcinosis	Corneal opacity, Thrombocytopenia	ORPHA:1980
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia	Corneal dystrophy, Developmental cataract	OMIM:271320
Schnyder Corneal Dystrophy	Corneal dystrophy, Crystalline corneal dystrophy	OMIM:121800
Central Cloudy Dystrophy Of Francois	Central corneal dystrophy, Corneal dystrophy	OMIM:217600
Galactosemia Iv	Cataract	OMIM:618881
Microphthalmia, Isolated, With Cataract 1	Cataract	OMIM:156850
Cortical Dysplasia, Complex, With Other Brain Malformations 4	Cataract	OMIM:615412
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay	Cataract, Developmental cataract	OMIM:613076
Spastic Paraparesis And Deafness	Cataract	OMIM:312910
Cataract 9, Multiple Types	Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma	OMIM:604219
Microphthalmia, Isolated, With Coloboma 3	Cataract, Iris coloboma	OMIM:610092
X-Linked Corneal Dermoid	Abnormal pupil morphology, Corneal opacity	ORPHA:1661
Winchester Syndrome	Corneal opacity, Hirsutism, Osteolysis involving tarsal bones, Carpal osteolysis, Generalized ost...	OMIM:277950
Spinocerebellar Ataxia, Autosomal Recessive 24	Cataract	OMIM:617133
Hypoalphalipoproteinemia, Primary, 2	Corneal arcus, Cataract	OMIM:618463
X-Linked Intellectual Disability, Stocco Dos Santos Type	Epicanthus, Cataract, Hirsutism	ORPHA:85288
Glaucoma 3, Primary Congenital, D	Corneal opacity, Primary congenital glaucoma, Ectopia lentis	OMIM:613086
Loose Anagen Syndrome	Abnormal hair morphology, Abnormal hair whorl, Iris coloboma	ORPHA:168
Corneal Dystrophy-Perceptive Deafness Syndrome	Corneal opacity, Corneal dystrophy	ORPHA:1490
Galactosemia Ii	Cataract	OMIM:230200
Chorea, Remitting, With Nystagmus And Cataract	Cataract	OMIM:601372
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Cataract, Fava bean-induced hemolytic anemia	OMIM:618660
Dermoids Of Cornea	Corneal opacity	OMIM:304730
Dysequilibrium Syndrome	Cataract	ORPHA:1766
Monilethrix	Abnormal eyebrow morphology, Brittle hair, Cataract, Slow-growing hair, Abnormal eyelash morpholo...	ORPHA:573
Cataract 50 With Or Without Glaucoma	Cataract, Persistent pupillary membrane	OMIM:620253
Macular Dystrophy, Corneal	Punctate opacification of the cornea, Corneal dystrophy, Recurrent corneal erosions	OMIM:217800
Microcephaly-Microcornea Syndrome, Seemanova Type	Microcornea, Epicanthus, Cataract, Upslanted palpebral fissure	ORPHA:2528
Anterior Segment Dysgenesis 3	Rieger anomaly, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld anomaly, Peters anomaly, Post...	OMIM:601631
Optic Atrophy 3, Autosomal Dominant	Cataract	OMIM:165300
Exfoliation Syndrome	Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab...	OMIM:177650
Thrombocytopenia 2	Leukocytosis, Thrombocytopenia	OMIM:188000
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract	Microcornea, Cataract, Aniridia	OMIM:106230
Immune Thrombocytopenia	Thrombocytopenia	OMIM:188030
3-Methylglutaconic Aciduria Type 4	Cataract, Thrombocytopenia, Iris hypopigmentation	ORPHA:67048
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism	Cataract	OMIM:254000
Tietz Albinism-Deafness Syndrome	White eyelashes, Blue irides, Heterochromia iridis, White eyebrow	OMIM:103500
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome	Epicanthus, Cataract, Ptosis	ORPHA:1373
Cataract 11, Multiple Types	Cataract, Developmental cataract	OMIM:610623
Iris Pigment Layer, Cleavage Of	Cataract	OMIM:147610
Thanatophoric Dysplasia, Glasgow Variant	Cataract, Anemia, Hepatosplenomegaly	OMIM:273680
Yemenite Deaf-Blind Hypopigmentation Syndrome	Microcornea, White forelock, Iris coloboma, Chorioretinal coloboma	OMIM:601706
Upper Limb Defect-Eye And Ear Abnormalities Syndrome	Epicanthus, Cataract, Chorioretinal coloboma	ORPHA:2489
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Cataract, Corneal opacity, Chorioretinal coloboma, Posterior embryotoxon, Iris coloboma, Ptosis	ORPHA:1473
Nathalie Syndrome	Cataract	OMIM:255990
Cataract 21, Multiple Types	Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Peters anomaly, I...	OMIM:610202
Corneal Dystrophy, Fuchs Endothelial, 1	Corneal dystrophy, Corneal stromal edema, Corneal guttata, Corneal degeneration, Descemet Membran...	OMIM:136800
Bardet-Biedl Syndrome 18	Cataract	OMIM:615995
Cataract 47	Microcornea, Cataract	OMIM:612018
Bleeding Disorder, Platelet-Type, 9	Thrombocytopenia	OMIM:614200
Thrombocytopenia 7	Reduced platelet alpha granules, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Red...	OMIM:619130
Phosphoglycerate Dehydrogenase Deficiency	Megaloblastic anemia, Thrombocytopenia, Developmental cataract	OMIM:601815
Amoebic Keratitis	Iris atrophy, Anterior uveitis, Cataract, Abnormal corneal epithelium morphology, Abnormal anteri...	ORPHA:67043
Cataract-Nephropathy-Encephalopathy Syndrome	Cataract	ORPHA:1380
2Q24 Microdeletion Syndrome	Cataract, Downslanted palpebral fissures, Abnormality iris morphology	ORPHA:1617
Rothmund-Thomson Syndrome, Type 1	Absent eyebrow, Absent eyelashes, Osteoporosis, Nail dystrophy, Sparse hair, Juvenile cataract	OMIM:618625
Spinocerebellar Degeneration And Corneal Dystrophy	Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma	OMIM:271310
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Decreased skull ossification, Abnormal hemoglobin, Anemia	ORPHA:3319
Flynn-Aird Syndrome	Alopecia, Cataract, Increased bone mineral density, Osteoporosis, Increased bone density with cys...	OMIM:136300
Aniridia 2	Aniridia, Iris coloboma, Cataract, Lens subluxation	OMIM:617141
Lattice Corneal Dystrophy Type I	Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc...	ORPHA:98964
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Cataract, Iris coloboma, Chorioretinal coloboma	OMIM:120433
Anterior Segment Dysgenesis 7	Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante...	OMIM:269400
Corneal Dystrophy And Perceptive Deafness	Corneal dystrophy, Opacification of the corneal stroma	OMIM:217400
Ectopia Lentis Et Pupillae	Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m...	OMIM:225200
Bilateral Acute Depigmentation Of The Iris	Iris pigment dispersion, Abnormal corneal endothelium morphology, Abnormal iris pigmentation, Pig...	ORPHA:69736
Corneal Dystrophy, Posterior Polymorphous, 1	Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ...	OMIM:122000
Corneal Dystrophy, Congenital Stromal	Band-shaped corneal dystrophy, Corneal erosion, Increased corneal thickness, Corneal dystrophy	OMIM:610048
Coats Disease	Aplasia/Hypoplasia of the iris, Cataract, Abnormal anterior chamber morphology	ORPHA:190
Amegakaryocytic Thrombocytopenia, Congenital, 1	Amegakaryocytic thrombocytopenia, Pancytopenia, Thrombocytopenia	OMIM:604498
Peroxisome Biogenesis Disorder 8A (Zellweger)	Epiphyseal stippling, Cataract	OMIM:614876
Corneal Dystrophy, Reis-Bucklers Type	Palpebral edema, Corneal opacity, Corneal dystrophy, Corneal erosion, Opacification of the cornea...	OMIM:608470
Blepharoptosis, Myopia, And Ectopia Lentis	Congenital ptosis, Ectopia lentis	OMIM:110150
Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder	Cataract, Highly arched eyebrow, Ptosis	OMIM:616154
Leber Congenital Amaurosis 7	Keratoconus, Cataract	OMIM:613829
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Amegakaryocytic thrombocytopenia	ORPHA:71289
Microphthalmia, Isolated, With Coloboma 10	Microcoria, Iris coloboma, Chorioretinal coloboma	OMIM:616428
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia	ORPHA:231393
Woolly Hair Nevus	Curly hair, Patchy hypopigmentation of hair, Congenital posterior occipital alopecia, Fine hair, ...	ORPHA:79414
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1	Microcornea, Cataract	OMIM:619082
Autosomal Recessive Spastic Paraplegia Type 69	Cataract	ORPHA:401830
Iridocorneal Endothelial Syndrome	Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ...	ORPHA:64734
Aniridia-Intellectual Disability Syndrome	Aniridia, Cataract, Ectopia lentis	ORPHA:1068
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Cataract, Delayed ossification of carpal bones, Reduced bone mineral density	OMIM:618392
Waardenburg Syndrome, Type 4B	White eyelashes, White eyebrow, Blue irides, Premature graying of hair, White forelock, Heterochr...	OMIM:613265
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Cataract, Ptosis	ORPHA:1875
Generalized Eruptive Keratoacanthoma	Abnormal cornea morphology, Keratoconjunctivitis sicca, Conjunctivitis, Ectropion	ORPHA:411777
Hermansky-Pudlak Syndrome 9	Leukopenia, Thrombocytopenia, Ocular albinism, Abnormal platelet aggregation	OMIM:614171
Beemer Lethal Malformation Syndrome	Thrombocytopenia	OMIM:209970
Microphthalmia, Isolated, With Coloboma 7	Iris coloboma, Inferior chorioretinal coloboma	OMIM:614497
Peters Anomaly	Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c...	ORPHA:708
Autosomal Dominant Keratitis	Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op...	ORPHA:2334
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma	Iridodonesis, Ectopia lentis, Microspherophakia, Deep anterior chamber, Buphthalmos, Megalocornea	OMIM:251750
Microcornea, Myopic Chorioretinal Atrophy, And Telecanthus	Microcornea, Telecanthus, Posterior subcapsular cataract, Chorioretinal degeneration	OMIM:615458
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Osteopenia, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia, Ptosis	OMIM:610539
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome	Cataract	ORPHA:2278
Corneal Dystrophy, Fuchs Endothelial, 6	Corneal dystrophy, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corne...	OMIM:613270
Retinitis Pigmentosa 40	Cataract	OMIM:613801
Corneal Dystrophy, Posterior Amorphous	Ectopia pupillae, Iris coloboma, Corneal dystrophy	OMIM:612868
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Alopecia, Cataract, Sparse eyelashes, Keratitis, Scarring alopecia of scalp, Sparse eyebrow, Conj...	OMIM:612843
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant	Macrothrombocytopenia	OMIM:619840
Corneal Dystrophy, Fuchs Endothelial, 2	Corneal degeneration, Corneal dystrophy, Corneal guttata	OMIM:610158
Atelis Syndrome 1	Cataract, Anemia, Leukopenia, Downslanted palpebral fissures, Thrombocytopenia	OMIM:620184
Leber Congenital Amaurosis 6	Keratoconus, Cataract	OMIM:613826
Bleeding Disorder, Platelet-Type, 16	Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Impaired platele...	OMIM:187800
Kahrizi Syndrome	Cataract, Iris coloboma	OMIM:612713
Hemophagocytic Lymphohistiocytosis, Familial, 4	Splenomegaly, Anemia, Conjunctivitis, Hemophagocytosis, Neutropenia, Thrombocytopenia	OMIM:603552
Blepharoptosis-Myopia-Ectopia Lentis Syndrome	Ptosis, Palpebral edema, Iris coloboma, Ectopia lentis	ORPHA:1259
Leukoencephalopathy With Vanishing White Matter 2	Cataract	OMIM:620312
Stickler Syndrome Type 2	Cataract, Corneal opacity	ORPHA:90654
Corneal Dystrophy, Meesmann, 1	Punctate opacification of the cornea, Corneal dystrophy	OMIM:122100
Immunodeficiency 46	Neutropenia, Conjunctivitis, Anemia, Intermittent thrombocytopenia	OMIM:616740
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome	Cataract, Corneal dystrophy	ORPHA:1369
Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome	Lacrimal duct atresia, Iris coloboma	ORPHA:139450
Anterior Segment Dysgenesis 2	Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber...	OMIM:610256
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Thrombocytopenia	OMIM:166990
Cataract 1, Multiple Types	Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract	OMIM:116200
Clouston Syndrome	Alopecia, Brittle hair, Cataract, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Sparse e...	OMIM:129500
Atopic Keratoconjunctivitis	Corneal opacity, Abnormal eyelid morphology, Keratitis, Loss of eyelashes, Keratoconjunctivitis s...	ORPHA:163934
Sengers Syndrome	Osteopenia, Cataract, Thrombocytopenia, Developmental cataract	OMIM:212350
Corneal Dystrophy, Posterior Polymorphous, 3	Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata	OMIM:609141
Proximal Myotonic Myopathy	Cataract	ORPHA:606
Forsythe-Wakeling Syndrome	Osteoporosis, Thrombocytopenia	OMIM:613606
Cataract 14, Multiple Types	Zonular cataract	OMIM:601885
Posterior Polymorphous Corneal Dystrophy	Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Uveal ectropion, Abnorm...	ORPHA:98973
Corneal Dystrophy, Fuchs Endothelial, 3	Corneal stromal edema, Corneal opacity, Corneal guttata	OMIM:613267
Cataract 17, Multiple Types	Microcornea, Nuclear cataract, Pulverulent cataract, Developmental cataract	OMIM:611544
Vernal Keratoconjunctivitis	Corneal neovascularization, Abnormal cornea morphology, Abnormal conjunctiva morphology, Punctate...	ORPHA:70476
Myopia 17, Autosomal Dominant	Presenile cataracts	OMIM:608367
Congenital Rubella Syndrome	Cataract, Corneal opacity, Splenomegaly, Aplasia/Hypoplasia of the iris, Anemia, Thrombocytopenia	ORPHA:290
Preeclampsia/Eclampsia 1	Thrombocytopenia	OMIM:189800
Isolated Aniridia	Aniridia, Cataract, Peters anomaly	ORPHA:250923
Limbal Stem Cell Deficiency	Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn...	ORPHA:171673
Keratosis Follicularis Spinulosa Decalvans, X-Linked	Sparse eyelashes, Corneal dystrophy, Keratitis, Scarring alopecia of scalp, Sparse eyebrow, Conju...	OMIM:308800
Hypomelanosis Of Ito	Epicanthus, Alopecia, Cataract, Iris coloboma	OMIM:300337
Ifap Syndrome 2	Cataract, Keratitis, Posterior blepharitis, Keratoconjunctivitis sicca, Nail dystrophy, Atrichia,...	OMIM:619016
Frontofacionasal Dysplasia	Telecanthus, Cataract, Blepharophimosis, Brushfield spots, Upper eyelid coloboma, Microcornea, Li...	ORPHA:1791
Corneal Endothelial Dystrophy	Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat...	OMIM:217700
Vogt-Koyanagi-Harada Disease	Abnormal eyebrow morphology, Sparse scalp hair, Cataract, Poliosis, Abnormal eyelash morphology, ...	ORPHA:3437
Aniridia 3	Aniridia, Cataract	OMIM:617142
Aniridia-Absent Patella Syndrome	Aniridia, Cataract, Ptosis	ORPHA:1069
Alg2-Cdg	Epicanthus, Cataract, Downslanted palpebral fissures, Iris coloboma	ORPHA:79326
Bleeding Disorder, Platelet-Type, 24	Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat...	OMIM:619271
Wagner Vitreoretinopathy	Cataract, Chorioretinal atrophy	OMIM:143200
Cataract 10, Multiple Types	Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract	OMIM:600881
Ichthyosis, Congenital, Autosomal Recessive 11	Curly hair, Brittle hair, Corneal opacity, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Spa...	OMIM:602400
Rhizomelic Chondrodysplasia Punctata	Epicanthus, Alopecia, Cataract, Epiphyseal stippling, Sparse body hair	ORPHA:177
Pellagra-Like Syndrome	Cataract	OMIM:260650
Weill-Marchesani Syndrome 4	Iridodonesis, Ectopia lentis, Shallow anterior chamber, Posterior synechiae of the anterior chamb...	OMIM:613195
Griscelli Syndrome	Abnormal eyebrow morphology, Abnormality of neutrophils, Abnormal eyelash morphology, Silver-gray...	ORPHA:381
Mevalonic Aciduria	Splenomegaly, Cataract, Downslanted palpebral fissures	ORPHA:29
Hypergonadotropic Hypogonadism-Cataract Syndrome	Cataract, Osteoporosis, Reduced bone mineral density	ORPHA:2410
X-Linked Endothelial Corneal Dystrophy	Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy	ORPHA:293621
Eosinophilia, Familial	Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia	OMIM:131400
Cataract 2, Multiple Types	Aculeiform cataract, Nuclear pulverulent cataract, Developmental cataract, Microcornea, Nuclear c...	OMIM:604307
Myh9-Related Disease	Increased mean platelet volume, Giant platelets, Neutrophil inclusion bodies, Presenile cataracts...	ORPHA:182050
Myopia 28, Autosomal Recessive	Cataract	OMIM:619781
Corneal Dystrophy, Fuchs Endothelial, 4	Corneal dystrophy, Corneal guttata	OMIM:613268
Corneal Dystrophy, Fuchs Endothelial, 8	Corneal dystrophy, Corneal guttata	OMIM:615523
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thrombocytopenia	OMIM:133180
Usher Syndrome Type 3	Cataract, Astigmatism, Iris hypopigmentation	ORPHA:231183
Galactose Epimerase Deficiency	Splenomegaly, Cataract	ORPHA:79238
Herpes Simplex Virus Stromal Keratitis	Keratitis, Deep anterior chamber, Herpetiform corneal ulceration, Corneal stromal edema, Corneal ...	ORPHA:137599
Aniridia And Absent Patella	Aniridia, Cataract	OMIM:106220
Absence Deformity Of Leg-Cataract Syndrome	Cataract	ORPHA:2310
Congenital Varicella Syndrome	Cataract	ORPHA:291
Epithelial Recurrent Erosion Dystrophy	Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera...	ORPHA:293381
Sea-Blue Histiocyte Disease	Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis, Absent axillary hair	OMIM:269600
Ophthalmoplegia, Familial Static	Anisocoria, Ptosis	OMIM:165000
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia	OMIM:124900
Anterior Segment Dysgenesis 5	Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypoplasia of the iris, Anteri...	OMIM:604229
Hermansky-Pudlak Syndrome 5	Absent platelet dense granules, Albinism, Impaired ADP-induced platelet aggregation, Ocular albin...	OMIM:614074
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Sparse eyebrow, Alopecia, Cataract, Sparse eyelashes	OMIM:615704
Cataract 48	Cataract	OMIM:618415
Gyrate Atrophy Of Choroid And Retina	Cataract, Chorioretinal degeneration, Abnormal hair morphology, Chorioretinal hyperpigmentation, ...	ORPHA:414
Bleeding Disorder, Platelet-Type, 19	Thrombocytopenia, Macrothrombocytopenia, Anemia	OMIM:616176
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Upslanted palpebral fissure, Cataract	OMIM:616108
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome	Cataract	OMIM:610156
Cornea Plana 2, Autosomal Recessive	Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness	OMIM:217300
Microcephalic Primordial Dwarfism, Toriello Type	Cataract, Downslanted palpebral fissures, Neutropenia	ORPHA:2643
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts	Cataract	OMIM:183800
Wagr Syndrome	Aplasia/Hypoplasia of the iris, Cataract, Ptosis	ORPHA:893
Platelet Signal Processing Defect	Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb...	OMIM:173590
Achondrogenesis Type 2	Delayed vertebral ossification, Absent vertebral body mineralization, Cataract, Delayed proximal ...	ORPHA:93296
Dermatitis, Atopic	Keratoconus, Cataract, Conjunctivitis	OMIM:603165
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Microcornea, Cataract, Long eyelashes, Osteoporosis	ORPHA:48431
Baralle-Macken Syndrome	Upslanted palpebral fissure, Cataract, Hirsutism	OMIM:619255
Linear Verrucous Nevus Syndrome	Sparse scalp hair, Cataract, Reduced bone mineral density, Abnormal cornea morphology, Iris coloboma	ORPHA:2611
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Epicanthus, Cataract, Corneal opacity, Chorioretinal dysplasia, Chorioretinal lacunae, Myopic ast...	OMIM:152950
Myopia, High, With Cataract And Vitreoretinal Degeneration	Cataract, Lens subluxation	OMIM:614292
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia	Nail dystrophy, Cataract, Alopecia totalis	ORPHA:1366
Corneal Dystrophy, Thiel-Behnke Type	Corneal dystrophy, Corneal scarring, Juvenile epithelial corneal dystrophy	OMIM:602082
Retinitis Pigmentosa 9	Cataract	OMIM:180104
Cochleosaccular Degeneration-Cataract Syndrome	Cataract	ORPHA:3233
Aniridia 1	Anterior subcapsular cataract, Cataract, Ectopia lentis, Bilateral ptosis, Corneal erosion, Hypop...	OMIM:106210
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom...	ORPHA:75564
Anterior Segment Dysgenesis 6	Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi...	OMIM:617315
Hypogonadism-Cataract Syndrome	Cataract	OMIM:240950
Edict Syndrome	Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract	OMIM:614303
Leber Congenital Amaurosis 8	Keratoconus, Choriocapillaris atrophy, Cataract, Chorioretinal atrophy	OMIM:613835
Sitosterolemia 1	Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Xanthelasma, Corneal arcus, Sto...	OMIM:210250
Immunodeficiency 10	Hypoplasia of the iris, Autoimmune hemolytic anemia, Thrombocytopenia	OMIM:612783
Premature Aging Syndrome, Okamoto Type	Abnormal hair morphology, Cataract, Osteoporosis	OMIM:601811
Unilateral Ocular Duplication	Abnormal eyebrow morphology, Abnormal pupil morphology, Microcornea, Blepharophimosis, Iris coloboma	ORPHA:3374
Ghosal Hematodiaphyseal Dysplasia	Refractory anemia, Myelofibrosis, Increased bone mineral density, Leukopenia, Hyperostosis crania...	OMIM:231095
Peroxisome Biogenesis Disorder 11B	Cataract, Hepatosplenomegaly	OMIM:614885
Leber Congenital Amaurosis 16	Cataract	OMIM:614186
X-Linked Immunoneurologic Disorder	Cataract	ORPHA:2571
Pontocerebellar Hypoplasia, Type 15	Thrombocytopenia, Chronic neutropenia, Anemia	OMIM:619302
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropenia, Anemia	OMIM:615285
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, Macrothrombocytopenia, Gia...	OMIM:155100
Brittle Cornea Syndrome 1	Keratoconus, Epicanthus, Keratoglobus, Abnormal cornea morphology, Decreased corneal thickness, R...	OMIM:229200
Zika Virus Disease	Chorioretinal atrophy, Conjunctivitis, Lens subluxation, Iris coloboma, Thrombocytopenia	ORPHA:448237
Acute Myelomonocytic Leukemia	Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia	ORPHA:517
Senior-Loken Syndrome	Cataract, Abnormality of bone mineral density	ORPHA:3156
Bleeding Disorder, Platelet-Type, 15	Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume	OMIM:615193
Granular Corneal Dystrophy Type I	Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of...	ORPHA:98962
Congenital Hereditary Endothelial Dystrophy Type Ii	Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as...	ORPHA:293603
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr...	OMIM:619041
Wolfram Syndrome 1	Sideroblastic anemia, Cataract, Megaloblastic anemia, Thrombocytopenia, Ptosis	OMIM:222300
Refractory Anemia	Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm...	ORPHA:98826
Lig4 Syndrome	Pancytopenia, Epicanthus, Low anterior hairline, Acute lymphoblastic leukemia, Upslanted palpebra...	OMIM:606593
Fanconi Anemia, Complementation Group G	Thrombocytopenia, Leukemia, Anemia, Neutropenia	OMIM:614082
Cataract 3, Multiple Types	Nuclear pulverulent cataract, Sutural cataract, Cerulean cataract, Developmental cataract	OMIM:601547
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu...	OMIM:314050
Granular Corneal Dystrophy Type Ii	Subepithelial corneal opacities, Central opacification of the cornea, Recurrent corneal erosions,...	ORPHA:98963
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Increased bone mineral density, Cataract, Microcornea, Iris transillumination defect, Osteopetros...	OMIM:617306
Systemic Lupus Erythematosus 17	Alopecia, Autoimmune thrombocytopenia, Leukopenia, Lymphopenia, Thrombocytopenia	OMIM:301080
Anemia, Sideroblastic, 5	Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia	OMIM:619523
Thrombocytopenia, Anemia, And Myelofibrosis	Myelofibrosis, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis, Anemia	OMIM:617441
Pontocerebellar Hypoplasia, Type 14	Chronic neutropenia, Thrombocytopenia	OMIM:619301
Platelet Glycoprotein Iv Deficiency	Giant platelets, Thrombocytopenia	OMIM:608404
Microphthalmia, Syndromic 16	Ankyloblepharon, Sclerocornea	OMIM:611038
Dermochondrocorneal Dystrophy	Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract, Irregular tarsal ...	OMIM:221800
Dyskeratosis Congenita, Autosomal Recessive 1	Sparse scalp hair, Pancytopenia, Aplastic anemia, Sparse eyelashes, Osteoporosis, Nasolacrimal du...	OMIM:224230
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microcornea, Posterior lenticonus, Iris coloboma, Chorioretinal coloboma	ORPHA:231736
Thrombocytopenia 4	Abnormal platelet volume, Thrombocytopenia	OMIM:612004
Vitreoretinal Degeneration, Snowflake Type	Cataract, Corneal guttata	OMIM:193230
Anterior Segment Dysgenesis 1	Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula...	OMIM:107250
Laurence-Moon Syndrome	Epicanthus, Cataract, Iris coloboma	ORPHA:2377
Noonan Syndrome 4	Curly hair, Epicanthus, Sparse eyebrow, Bilateral ptosis, Blue irides, High anterior hairline, Do...	OMIM:610733
Infantile Spasms-Broad Thumbs Syndrome	Cataract, Downslanted palpebral fissures	ORPHA:3173
Short Syndrome	Posterior embryotoxon, Alopecia, Corneal opacity, Telecanthus, Abnormal pupil morphology, Hypopla...	ORPHA:3163
Ataxia-Pancytopenia Syndrome	Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto...	OMIM:159550
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Aicardi-Goutieres Syndrome 3	Thrombocytopenia, Hepatosplenomegaly	OMIM:610329
Rutherfurd Syndrome	Corneal dystrophy, Opacification of the corneal stroma	OMIM:180900
Isolated Ectopia Lentis	Ectopia pupillae, Cataract, Ectopia lentis	ORPHA:1885
Retinal Dystrophy And Iris Coloboma With Or Without Cataract	Posterior synechiae of the anterior chamber, Iris coloboma, Developmental cataract	OMIM:616722
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia	ORPHA:494444
Pseudo-Von Willebrand Disease	Intermittent thrombocytopenia	OMIM:177820
Thrombocytopenia, Paris-Trousseau Type	Thrombocytopenia, Ptosis	OMIM:188025
Gray Platelet Syndrome	Splenomegaly, Abnormality of thrombocytes, Thrombocytopenia	ORPHA:721
Fetal Parvovirus Syndrome	Thrombocytopenia, Anemia	ORPHA:295
Atypical Hemolytic Uremic Syndrome	Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:2134
Galactose Mutarotase Deficiency	Cataract	ORPHA:570422
Lymphedema-Hypoparathyroidism Syndrome	Ptosis, Telecanthus, Cataract, Hypertrichosis	OMIM:247410
Fuchs Heterochromic Iridocyclitis	Anterior chamber inflammatory cells, Iris atrophy, Cataract, Anisocoria, Posterior synechiae of t...	ORPHA:263479
Charcot-Marie-Tooth Disease Type 1B	Abnormal pupil morphology	ORPHA:101082
Niemann-Pick Disease, Type B	Bone-marrow foam cells, Thrombocytopenia, Splenomegaly, Sea-blue histiocytosis, Anemia	OMIM:607616
Nasopalpebral Lipoma-Coloboma Syndrome	Lipomas of eyelids, Telecanthus, Cataract, Corneal opacity, Abnormal eyelash morphology, Sparse e...	ORPHA:2399
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome	Cataract, Thick eyebrow, Developmental cataract	ORPHA:436174
Ectodermal Dysplasia-Blindness Syndrome	Cataract, Corneal dystrophy, Sclerocornea, Fine hair, Microcornea, Keratoconjunctivitis sicca, Sp...	ORPHA:1806
Hereditary Mucoepithelial Dysplasia	Alopecia, Cataract, Corneal dystrophy, Fine hair, Sparse hair	ORPHA:1839
Bone Marrow Failure Syndrome 2	Leukopenia, Thrombocytopenia, Anemia	OMIM:615715
Roch-Leri Mesosomatous Lipomatosis	Thrombocytopenia	ORPHA:529
Oculoauricular Syndrome	Cataract, Sclerocornea, Chorioretinal atrophy, Nasolacrimal duct obstruction, Developmental catar...	OMIM:612109
Dk Phocomelia Syndrome	Thrombocytopenia	OMIM:223340
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Aplasia/Hypoplasia of the lens, Cataract	ORPHA:1381
Proteus-Like Syndrome	Thymus hyperplasia, Cataract, Splenomegaly, Abnormal pupil morphology, Hyperostosis, Downslanted ...	ORPHA:2969
Cernunnos-Xlf Deficiency	Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia	ORPHA:169079
Giant platelet syndrome with thrombocytopenia	Giant platelets, Thrombocytopenia	OMIM:137560
Microcoria, Congenital	Microcoria, Hypoplasia of the iris dilator muscle	OMIM:156600
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Cataract, Corneal scarring, Buphthalmos, Chorioretinal coloboma, Iris coloboma	OMIM:212550
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Cardiofaciocutaneous Syndrome 4	Absent eyebrow, Curly hair, Cataract, Sparse eyelashes, Epicanthus, Telecanthus, Sparse hair, Alo...	OMIM:615280
Spondylo-Ocular Syndrome	Abnormal eyebrow morphology, Cataract, Aplasia/Hypoplasia of the lens, Osteoporosis, Low posterio...	ORPHA:85194
Malaria	Anemia, Thrombocytopenia	ORPHA:673
Bleeding Disorder, Platelet-Type, 21	Alopecia, Increased mean platelet volume, Impaired ADP-induced platelet aggregation, Impaired pla...	OMIM:617443
Wiskott-Aldrich Syndrome 2	Decreased proportion of CD8-positive T cells, Thrombocytopenia	OMIM:614493
Retinitis Pigmentosa 84	Cataract	OMIM:618220
Cardiomyopathy, Dilated, 1Ii	Cataract	OMIM:615184
Osteopetrosis, Autosomal Recessive 4	Reticulocytosis, Increased bone mineral density, Splenomegaly, Thrombocytopenia, Osteopetrosis, A...	OMIM:611490
Cataract 5, Multiple Types	Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract	OMIM:116800
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Corneal opacity, Leukocoria, Uveitis, Microcornea, Buphthalmos, Shallow anterior chambe...	OMIM:221900
Phacoanaphylactic Uveitis	Anterior uveitis, Keratitis, Abnormal pupil morphology, Abnormal corneal endothelium morphology, ...	ORPHA:209959
Stickler Syndrome, Type V	Cataract	OMIM:614284
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Epicanthus, Aplastic anemia, Thrombocytopenia, Reduced bone...	OMIM:617052
Fuchs Endothelial Corneal Dystrophy	Abnormal corneal endothelium morphology, Reduced number of corneal endothelial cells, Abnormal De...	ORPHA:98974
Porphyria, Congenital Erythropoietic	Osteopenia, Absent eyebrow, Alopecia, Hemolytic anemia, Splenomegaly, Loss of eyelashes, Osteolys...	OMIM:263700
Cronkhite-Canada Syndrome	Alopecia, Cataract, Splenomegaly, Anemia, Dystrophic toenail, Patchy alopecia, Dystrophic fingern...	ORPHA:2930
Congenital Disorder Of Glycosylation, Type Iik	Osteoporosis, Thrombocytopenia	OMIM:614727
Transcobalamin Deficiency	Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia	ORPHA:859
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Anterior uveitis, Hemolytic anemia, Lymphopenia, Thrombocytopenia	OMIM:616744
X-Linked Recessive Ocular Albinism	Abnormal pupil morphology, Astigmatism, Ocular albinism, Iris hypopigmentation	ORPHA:54
Intermediate Osteopetrosis	Cortical sclerosis, Generalized osteosclerosis, Hepatosplenomegaly, Anemia, Abnormality of bone m...	ORPHA:210110
Megalocornea-Intellectual Disability Syndrome	Osteopenia, Iridodonesis, Epicanthus, Hypoplasia of the iris, Astigmatism, Megalocornea, Abnormal...	ORPHA:2479
Distal Duplication 6P	Abnormal hair quantity, Cataract, Abnormal eyelash morphology, Fine hair, Blepharophimosis, Ptosis	ORPHA:1745
Leukodystrophy, Hypomyelinating, 24	Cataract, B lymphocytopenia	OMIM:619851
Brittle Cornea Syndrome 2	Keratoconus, Flat cornea, Sclerocornea, Keratoglobus, Decreased corneal thickness, Corneal perfor...	OMIM:614170
Folate Malabsorption, Hereditary	Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia	OMIM:229050
Coloboma, Ocular, Autosomal Recessive	Iris coloboma, Cataract, Lens subluxation	OMIM:216820
Alport Syndrome 1, X-Linked	Corneal erosion, Developmental cataract, Anterior lenticonus, Lenticonus, Thrombocytopenia	OMIM:301050
Cataract 6, Multiple Types	Posterior polar cataract, Choroideremia, Developmental cataract	OMIM:116600
Norrie Disease	Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham...	OMIM:310600
Hereditary Bullous Dystrophy, Macular Type	Alopecia, Cataract, Corneal opacity, Congenital abnormal hair pattern, Atrichia, Nail dystrophy	ORPHA:1867
Specific Granule Deficiency 2	Osteopenia, Absent neutrophil specific granules, Thrombocytopenia, Hirsutism, Neutropenia, Anemia	OMIM:617475
Achromatopsia 3	Cataract	OMIM:262300
X-Linked Dominant Chondrodysplasia Punctata	Abnormally ossified vertebrae, Cataract, Sparse eyelashes, Abnormal hair pattern, Sparse eyebrow,...	ORPHA:35173
Cataract 20, Multiple Types	Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract	OMIM:116100
Aicardi-Goutieres Syndrome 6	Splenomegaly, Hemolytic anemia, Thrombocytopenia	OMIM:615010
Lathosterolosis	Epicanthus, Cataract, Anisopoikilocytosis, Abnormal platelet morphology, Microcornea, Opacificati...	ORPHA:46059
Oculocerebral Hypopigmentation Syndrome, Preus Type	Cataract, Abnormality of neutrophils, White hair, Ocular albinism, Reduced bone mineral density, ...	ORPHA:2720
Corneal Dystrophy, Posterior Polymorphous, 4	Ectopia pupillae	OMIM:618031
Bernard-Soulier Syndrome	Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Impaired ristocetin-induced platelet ag...	OMIM:231200
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Epicanthus, Cataract, Sclerocornea, Microcornea, Ectopia pupillae, Long eyelashes, Cryptophthalmos	OMIM:615877
Hermansky-Pudlak Syndrome 2	Absent platelet dense granules, Fair hair, Epicanthus, Albinism, Splenomegaly, Impaired ADP-induc...	OMIM:608233
Amed Syndrome, Digenic	Acute myeloid leukemia, Telecanthus, Anemia, Leukopenia, Thrombocytopenia	OMIM:619151
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Osteopenia, Cataract, Coarse hair, Shallow orbits, Thrombocytopenia	OMIM:612394
Neuhauser Syndrome	Osteopenia, Iridodonesis, Epicanthus, Low anterior hairline, Hypoplasia of the iris, Megalocornea...	OMIM:249310
Chondrodysplasia Punctata 1, X-Linked Recessive	Epiphyseal stippling, Cataract	OMIM:302950
Cataracts, Spastic Paraparesis, And Speech Delay	Cataract	OMIM:619338
Thrombocytopenia 5	B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy...	OMIM:616216
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Hypopigmentation of hair, Abnormal dense granules, Sil...	OMIM:214500
Blindness-Scoliosis-Arachnodactyly Syndrome	Cataract, Lens subluxation, Microphakia	ORPHA:171844
Osteopetrosis, Autosomal Recessive 8	Splenomegaly, Thrombocytopenia, Osteopetrosis, Anemia	OMIM:615085
Wt Limb-Blood Syndrome	Thrombocytopenia, Pancytopenia, Hypoplastic anemia, Leukemia	OMIM:194350
Tularemia	Leukocytosis, Anemia, Conjunctivitis, Conjunctival hyperemia, Thrombocytopenia	ORPHA:3392
Bleeding Disorder, Platelet-Type, 20	Thrombocytopenia	OMIM:616913
Von Willebrand Disease, Type 2	Thrombocytopenia	OMIM:613554
Schimke Immunoosseous Dysplasia	Osteopenia, Pancytopenia, Thrombocytopenia, Abnormal T cell morphology, Fine hair, Coarse hair, A...	OMIM:242900
Myopathy, Tubular Aggregate, 1	Abnormal pupil morphology	OMIM:160565
Frontofacionasal Dysplasia	Telecanthus, Cataract, Ankyloblepharon, Microcornea, Eyelid coloboma, S-shaped palpebral fissures...	OMIM:229400
Osteopetrosis, Autosomal Recessive 2	Pancytopenia, Extramedullary hematopoiesis, Cranial hyperostosis, Diaphyseal sclerosis, Hepatospl...	OMIM:259710
Neurotrophic Keratopathy	Anterior uveitis, Corneal scarring, Corneal stromal edema, Astigmatism, Recurrent corneal erosion...	ORPHA:137596
Holocarboxylase Synthetase Deficiency	Alopecia, Thrombocytopenia, Keratoconjunctivitis	ORPHA:79242
Moyamoya Disease With Early-Onset Achalasia	Abnormal platelet aggregation, Thrombocytopenia	ORPHA:401945
Trichothiodystrophy 3, Photosensitive	Brittle hair, Cataract, Developmental cataract, Neutropenia, Tiger tail banding, Lymphopenia, Tri...	OMIM:616395
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Telecanthus, Corneal opacity, Craniosynostosis, Hirsutism, Leukopenia, Astigmatism, Downslanted p...	OMIM:301056
1Q41Q42 Microdeletion Syndrome	Upslanted palpebral fissure, Hyposegmentation of neutrophil nuclei, Abnormality iris morphology	ORPHA:250999
Weill-Marchesani Syndrome	Cataract, Ectopia lentis	ORPHA:3449
Fanconi Anemia, Complementation Group T	Acute myeloid leukemia, Pancytopenia, Anemia, Thrombocytopenia	OMIM:616435
Nephrotic Syndrome, Type 7	Hemolytic anemia, Thrombocytopenia	OMIM:615008
Ectopia Pupillae	Ectopia pupillae	OMIM:129750
Mevalonic Aciduria	Normocytic hypoplastic anemia, Cataract, Fluctuating splenomegaly, Thrombocytopenia, Leukocytosis...	OMIM:610377
Beta-Thalassemia	Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Reduced bone mineral density, Anemia, Throm...	ORPHA:848
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Acute Radiation Syndrome	Lymphopenia, Cataract, Granulocytopenia, Thrombocytopenia	ORPHA:454831
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Osteopenia, Premature graying of hair, Anemia, Nail dystrophy, Lymphopenia, Thrombocytopenia	OMIM:620365
Braddock-Carey Syndrome 2	Downslanted palpebral fissures, Thrombocytopenia	OMIM:619981
Isolated Congenital Alacrima	Keratitis, Corneal erosion, Lacrimal gland hypoplasia, Conjunctivitis, Lacrimal punctal atresia, ...	ORPHA:91416
Braddock-Carey Syndrome 1	Curly hair, Telecanthus, Sparse hair, Downslanted palpebral fissures, Thrombocytopenia	OMIM:619980
Tangier Disease	Corneal opacity, Hepatosplenomegaly, Anemia, Nail dystrophy, Thrombocytopenia, Ectropion	ORPHA:31150
Microphthalmia, Isolated, With Corectopia	Ectopia pupillae	OMIM:156900
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Thrombocytopenia, Congenital thrombocytopenia, Anemia, Neutropenia	OMIM:616738
Bleeding Disorder, Platelet-Type, 17	Myelofibrosis, Increased RBC distribution width, Macrothrombocytopenia, Absence of alpha granules...	OMIM:187900
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Corneal erosion, Cataract, Decreased proportion of class-switched memory B cells	OMIM:614878
Congenital Erythropoietic Porphyria	Osteopenia, Hemolytic anemia, Reticulocytosis, Anisocytosis, Scarring alopecia of scalp, Erythroi...	ORPHA:79277
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Iris atrophy, Cataract, Ectopia lentis, Spherophakia, Anterior synechiae of the anterior chamber,...	OMIM:601552
Hec Syndrome	Abnormal pupil morphology, Developmental cataract	ORPHA:2119
Wolfram Syndrome, Mitochondrial Form	Sideroblastic anemia, Neutropenia, Thrombocytopenia, Megaloblastic anemia	OMIM:598500
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Hemophagocytosis, Anemia	OMIM:613101
Microphthalmia With Brain And Digit Anomalies	Cataract, Sclerocornea, Microcornea, Chorioretinal coloboma, Iris coloboma	ORPHA:139471
Pseudo-Torch Syndrome 1	Splenomegaly, Thrombocytopenia, Cataract, Opacification of the corneal stroma	OMIM:251290
Aortic Aneurysm, Familial Thoracic 6	Iris flocculi	OMIM:611788
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic...	ORPHA:67044
Sea-Blue Histiocytosis	Splenomegaly, Blepharitis, Thrombocytopenia, Sea-blue histiocytosis	ORPHA:158029
Xeroderma Pigmentosum, Complementation Group D	Cataract, Entropion, Keratitis, Keratoconjunctivitis sicca, Conjunctivitis, Corneal neovasculariz...	OMIM:278730
Oculodentodigital Dysplasia, Autosomal Recessive	Epicanthus, Cataract, Sparse eyelashes, Telecanthus, Fine hair, Microcornea, Persistent pupillary...	OMIM:257850
Slc35A1-Cdg	Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia	ORPHA:238459
Alpha-Mannosidosis, Adult Form	Osteopenia, Pancytopenia, Cataract, Corneal opacity, Hepatosplenomegaly	ORPHA:309288
Mucopolysaccharidosis-Plus Syndrome	Epicanthus, Telecanthus, Thrombocytopenia, Synophrys, Splenomegaly, Low anterior hairline, Low po...	OMIM:617303
Aggressive Systemic Mastocytosis	Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Osteoporosis, Osteolysis, Hepatosple...	ORPHA:98850
Ruijs-Aalfs Syndrome	Cataract, Posterior subcapsular cataract, Osteoporosis, Premature graying of hair, Sparse hair	OMIM:616200
Gray Platelet Syndrome	Myelofibrosis, Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules,...	OMIM:139090
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy...	OMIM:300835
Jacobsen Syndrome	Epicanthus, Telecanthus, Abnormal eyelash morphology, Nasolacrimal duct obstruction, Microcornea,...	OMIM:147791
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	Impaired platelet aggregation, Macrothrombocytopenia	OMIM:613112
Cataract 39, Multiple Types	Lamellar cataract, Anterior polar cataract, Developmental cataract	OMIM:615188
X-Linked Agammaglobulinemia	Alopecia, Anemia, Conjunctivitis, Neutropenia, Thrombocytopenia	ORPHA:47
Hemangioma-Thrombocytopenia Syndrome	Microangiopathic hemolytic anemia, Thrombocytopenia	OMIM:141000
Aicardi-Goutieres Syndrome 4	Splenomegaly, Pancytopenia, Thrombocytopenia, Hepatosplenomegaly	OMIM:610333
3Q29 Microduplication Syndrome	Cataract, Sclerocornea, Craniosynostosis, Aniridia, Downslanted palpebral fissures, Iris coloboma	ORPHA:251038
Genetic Hyperferritinemia Without Iron Overload	Cataract	ORPHA:254704
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Alopecia, Cataract, Corneal scarring, Conjunctivitis, Nail dystrophy, Anemia	OMIM:226600
Immunodeficiency, Common Variable, 12, With Autoimmunity	Alopecia, Autoimmune hemolytic anemia, Thrombocytopenia	OMIM:616576
Facial Spasm	Anisocoria	OMIM:134300
Morning Glory Disc Anomaly	Cataract	ORPHA:35737
16Q24.3 Microdeletion Syndrome	Abnormal hair pattern, Highly arched eyebrow, Upslanted palpebral fissure, Astigmatism, Increased...	ORPHA:261250
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Thrombocytopenia	OMIM:314000
Osteopetrosis, Autosomal Recessive 5	Pancytopenia, Extramedullary hematopoiesis, Increased bone mineral density, Thrombocytopenia, Leu...	OMIM:259720
8Q21.11 Microdeletion Syndrome	Epicanthus, Cataract, Corneal opacity, Iris hypopigmentation, Sclerocornea, Blepharophimosis, Dow...	ORPHA:284160
Thrombocytopenia 6	Myelofibrosis, Osteoporosis, Thrombocytopenia	OMIM:616937
Non-Involuting Congenital Hemangioma	Thrombocytopenia	ORPHA:141179
Thrombotic Thrombocytopenic Purpura	Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:54057
Wilson Disease	Splenomegaly, Kayser-Fleischer ring, Thrombocytopenia, Anemia	ORPHA:905
Platelet Disorder, Familial, With Associated Myeloid Malignancy	Acute myeloid leukemia, Acute monocytic leukemia, Impaired platelet aggregation, Abnormal dense g...	OMIM:601399
Oculodentodigital Dysplasia	Curly hair, Epicanthus, Cataract, Brittle hair, Slow-growing hair, Cranial hyperostosis, Abnormal...	ORPHA:2710
Tufted Angioma	Anemia, Thrombocytopenia, Hypertrichosis	ORPHA:1063
Dyskeratosis Congenita	Abnormal eyebrow morphology, Alopecia, Cataract, Abnormality of neutrophils, Abnormal eyelash mor...	ORPHA:1775
Fetal Gaucher Disease	Pancytopenia, Splenomegaly, Abnormality of the spleen, Thrombocytopenia, Ectropion	ORPHA:85212
Branchio-Oculo-Facial Syndrome	Cataract, Nasolacrimal duct obstruction, Microcornea, Premature graying of hair, Upslanted palpeb...	ORPHA:1297
Alg8-Cdg	Thrombocytopenia, Cataract, Anemia	ORPHA:79325
Dahlberg-Borer-Newcomer Syndrome	Telecanthus, Cataract, Generalized hirsutism	ORPHA:1563
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hypoplasia of the iris, Hemolytic anemia, Thrombocytopenia, Splenomegaly	ORPHA:169090
Chondrodysplasia Punctata, Autosomal Dominant	Sparse hair, Epiphyseal stippling, Coarse hair, Cataract	OMIM:118650
Noonan Syndrome 12	Lymphopenia, Thrombocytopenia	OMIM:618624
Pediatric-Onset Graves Disease	Craniosynostosis, Abnormal eyelid morphology, Keratitis, Splenomegaly, Neutropenia in presence of...	ORPHA:525731
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Acute l...	ORPHA:158057
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocytopenia, Osteoly...	ORPHA:100026
Thyrocerebrorenal Syndrome	Thrombocytopenia	ORPHA:3327
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Cataract	OMIM:601794
Diamond-Blackfan Anemia	Acute myeloid leukemia, Ptosis, Epicanthus, Pure red cell aplasia, Erythroid hypoplasia, Developm...	ORPHA:124
Idiopathic Panuveitis	Conjunctival hyperemia, Cataract, Choroidal neovascularization, Posterior synechiae of the anteri...	ORPHA:280921
Congenital Muscular Dystrophy With Cerebellar Involvement	Megalocornea, Cataract, Abnormality iris morphology	ORPHA:370959
Dyskeratosis Congenita, Autosomal Dominant 2	Pancytopenia, Aplastic anemia, Osteoporosis, Premature graying of hair, Leukopenia, White foreloc...	OMIM:613989
Babesiosis	Splenomegaly, Leukopenia, Hemolytic anemia, Thrombocytopenia	ORPHA:108
Stuve-Wiedemann Syndrome 2	Thrombocytopenia	OMIM:619751
Congenital Toxoplasmosis	Thrombocytopenia, Anemia	ORPHA:858
Chromosome 16Q12 Duplication Syndrome	Anisocoria, Cataract	OMIM:619649
Hereditary Leiomyomatosis And Renal Cell Cancer	Cataract	ORPHA:523
Cataract 30, Multiple Types	Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract	OMIM:116300
Rapidly Involuting Congenital Hemangioma	Thrombocytopenia	ORPHA:141184
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Thrombocytopenia, Downslanted palpebral fissures, Increased mean platelet volume	OMIM:300048
Agel Amyloidosis	Cataract, Bilateral ptosis, Keratoconjunctivitis sicca, Abnormal spleen morphology, Blepharochala...	ORPHA:85448
Lymphoproliferative Syndrome 1	Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Anemia, Leu...	OMIM:613011
Lymphedema-Distichiasis Syndrome	Cataract, Ectropion, Corneal erosion, Conjunctivitis, Distichiasis, Ptosis	ORPHA:33001
Bone Marrow Failure Syndrome 4	Leukopenia, Thrombocytopenia, Anemia	OMIM:618116
Multiple Sulfatase Deficiency	Cataract, Corneal opacity, Splenomegaly, Coarse hair, Thick eyebrow	ORPHA:585
Congenital Disorder Of Glycosylation, Type Iif	Decreased platelet glycoprotein Ib, Macrothrombocytopenia, Thrombocytopenia, Neutropenia	OMIM:603585
Immunodeficiency 32B	Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Monocytopenia, Thromb...	OMIM:226990
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Cataract, Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymphocytopenia, Neutropenia, Lympho...	ORPHA:508542
Cahmr Syndrome	Lamellar cataract, Generalized hypertrichosis	OMIM:211770
Gaucher Disease, Type Iii	Splenomegaly, Pancytopenia, Thrombocytopenia	OMIM:231000
Isolated Agammaglobulinemia	Anemia, Thrombocytopenia, Abnormal lymphocyte morphology, Abnormality of neutrophils	ORPHA:229717
Late-Onset Retinal Degeneration	Iris atrophy, Choroidal neovascularization, Abnormal anterior eye segment morphology, Chorioretin...	ORPHA:67042
Distal Deletion 6P	Posterior embryotoxon, Epicanthus, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of...	ORPHA:96125
Farber Disease	Corneal opacity, Thrombocytopenia, Osteoporosis, Hepatosplenomegaly, Abnormal conjunctiva morphol...	ORPHA:333
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Splenomegaly, Anemia, Reduced natural killer cell count, Thrombocytopenia	OMIM:616050
Cutis Laxa, Autosomal Recessive, Type Iiib	Osteopenia, Cataract, Developmental glaucoma, Osteoporosis, Fine hair, Narrow palpebral fissure, ...	OMIM:614438
Atelis Syndrome 2	Epicanthus, Developmental cataract, Anemia, Dacryocystocele, Short palpebral fissure, Thrombocyto...	OMIM:620185
Duane Retraction Syndrome	Central heterochromia, Patchy hypopigmentation of hair, Blepharophimosis, Abnormal pupil morpholo...	ORPHA:233
Lymphoproliferative Syndrome, X-Linked, 1	Pancytopenia, Aplastic anemia, Splenomegaly, Lymphocytosis, Hemophagocytosis, Neutropenia, Thromb...	OMIM:308240
Adams-Oliver Syndrome	Alopecia, Cataract, Leukopenia, Sparse hair, Thrombocytopenia	ORPHA:974
Axenfeld-Rieger Syndrome, Type 3	Hypoplasia of the iris, Posterior embryotoxon, Ectopia pupillae, Posterior synechiae of the anter...	OMIM:602482
Primary Myelofibrosis	Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Leukocytosis, Splenomegaly, Hepatos...	ORPHA:824
Leishmaniasis	Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Anemia, Leukopenia, Thrombocytopenia	ORPHA:507
Isovaleric Acidemia	Leukopenia, Pancytopenia, Thrombocytopenia	OMIM:243500
Hirschsprung Disease-Ganglioneuroblastoma Syndrome	Abnormal pupil morphology	ORPHA:2151
3-Methylglutaconic Aciduria, Type Viib	Cataract, Leukopenia, Neutropenia, Zonular cataract, Thrombocytopenia	OMIM:616271
Oculocerebral Hypopigmentation Syndrome, Cross Type	Hypopigmentation of hair, Cataract, Corneal opacity, Ectropion, Ocular albinism, Choroideremia, A...	ORPHA:2719
Diamond-Blackfan Anemia 21	Unilateral ptosis, Erythroid hypoplasia, Synophrys, Widow's peak, Thrombocytopenia, Coarse hair, ...	OMIM:620072
Osteopetrosis, Autosomal Recessive 1	Pancytopenia, Increased bone mineral density, Craniosynostosis, Splenomegaly, Anemia, Osteopetros...	OMIM:259700
Mucoepithelial Dysplasia, Hereditary	Alopecia, Cataract, Eosinophilia, Keratoconjunctivitis, Coarse hair, Nail dystrophy, Opacificatio...	OMIM:158310
Wagro Syndrome	Cataract, Corneal opacity, Aniridia, Downslanted palpebral fissures, Ptosis	OMIM:612469
Prolidase Deficiency	Thrombocytopenia, Splenomegaly, Low posterior hairline, Facial hirsutism, Anemia, Ptosis	OMIM:170100
Dubowitz Syndrome	Sparse scalp hair, Ptosis, Cataract, Epicanthus, Telecanthus, Abnormality of neutrophils, Cranios...	ORPHA:235
Autoimmune Polyendocrinopathy Type 1	Alopecia, Cataract, Opacification of the corneal stroma	ORPHA:3453
Mandibuloacral Dysplasia With Type A Lipodystrophy	Abnormal eyebrow morphology, Alopecia, Cataract, Absent eyelashes, Osteolysis, Breast aplasia, Os...	ORPHA:90153
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegaly, Increased p...	OMIM:603909
Immunodeficiency, Common Variable, 8, With Autoimmunity	Pancytopenia, Autoimmune hemolytic anemia, Chronic neutropenia, Autoimmune thrombocytopenia, Sple...	OMIM:614700
Transaldolase Deficiency	Thrombocytopenia, Anemia, Hepatosplenomegaly	ORPHA:101028
Dyskeratosis Congenita, Autosomal Dominant 1	Alopecia, Aplastic anemia, Thrombocytopenia, Osteoporosis, Premature graying of hair, Leukopenia,...	OMIM:127550
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ...	OMIM:619802
Werner Syndrome	Cataract, Elevated hemoglobin A1c, Osteoporosis, Reduced bone mineral density, Alopecia of scalp	OMIM:277700
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Alopecia, Eosinophilia, Autoimmune thrombocytopenia, Anemia, Coombs-positive hemolytic anemia, Ne...	OMIM:304790
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Thrombocytopenia, Anemia, Neutropenia	ORPHA:289916
Revesz Syndrome	Aplastic anemia, Leukocoria, Fine hair, Nail dystrophy, Sparse hair, Megalocornea	OMIM:268130
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Splenomegaly, Thrombocytopenia, Anemia, Neutropenia	ORPHA:79312
Oligoarticular Juvenile Idiopathic Arthritis	Uveitis, Cataract, Anterior chamber synechiae, Band keratopathy	ORPHA:85410
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Cataract, Scarring alopecia of scalp, Ectopia pupillae, Astigmatism, Unilateral narrow palpebral ...	OMIM:618727
Dyskeratosis Congenita, Autosomal Dominant 3	Alopecia, Pancytopenia, Aplastic anemia, Osteoporosis, Fine hair, Premature graying of hair, Leuk...	OMIM:613990
Immunodeficiency 98 With Autoinflammation, X-Linked	Myelofibrosis, Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Hemophagocytosis, Ne...	OMIM:301078
Cataract 31, Multiple Types	Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract	OMIM:605387
Recon Progeroid Syndrome	Thrombocytopenia, Hirsutism, Absent lower eyelashes, Keratoconjunctivitis sicca, Anemia	OMIM:620370
Persistent Hyperplastic Primary Vitreous	Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ...	ORPHA:91495
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno...	ORPHA:35858
Diffuse Neonatal Hemangiomatosis	Thrombocytopenia, Anemia	ORPHA:2123
Thiamine-Responsive Megaloblastic Anemia Syndrome	Thrombocytopenia, Megaloblastic anemia	ORPHA:49827
Vitamin B12-Unresponsive Methylmalonic Acidemia	Thrombocytopenia, Leukopenia, Macrocytic anemia, Anemia	ORPHA:27
Dyskeratosis Congenita, X-Linked	Acute myeloid leukemia, Alopecia, Cataract, Sparse eyelashes, Pancytopenia, Thrombocytopenia, Ost...	OMIM:305000
Propionic Acidemia	Pancytopenia, Osteoporosis, Anemia, Neutropenia, Thrombocytopenia	OMIM:606054
Axenfeld-Rieger Syndrome, Type 1	Rieger anomaly, Polycoria, Microcornea, Hypoplasia of the iris, Ectopia pupillae, Aniridia, Megal...	OMIM:180500
Alport Syndrome 2, Autosomal Recessive	Corneal erosion, Cataract, Anterior lenticonus	OMIM:203780
Juvenile Glaucoma	Abnormal anterior chamber morphology, Abnormality iris morphology	ORPHA:98977
Pelger-Huet Anomaly	Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ...	OMIM:169400
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, B lymphocytopenia, Neutropenia	OMIM:150550
Preeclampsia	Thrombocytopenia	ORPHA:275555
Fanconi Anemia, Complementation Group V	Anemia, Thrombocytopenia, Neutropenia	OMIM:617243
Rothmund-Thomson Syndrome, Type 2	Absent eyebrow, Alopecia, Cataract, Sparse eyelashes, Sparse scalp hair, Epicanthus, Absent eyela...	OMIM:268400
Smith-Kingsmore Syndrome	Curly hair, Downslanted palpebral fissures, Thrombocytopenia	OMIM:616638
Cataract 15, Multiple Types	Lamellar cataract, Nuclear cataract, Cortical cataract	OMIM:615274
Cataract 33, Multiple Types	Lamellar cataract, Nuclear cataract, Cortical cataract	OMIM:611391
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia	OMIM:613839
Trisomy 9P	Abnormal pupil morphology, Downslanted palpebral fissures	ORPHA:236
Exudative Vitreoretinopathy 6	Nuclear cataract, Cataract, Chorioretinal atrophy, Cortical cataract	OMIM:616468
Thiamine-Responsive Megaloblastic Anemia Syndrome	Sideroblastic anemia, Thiamine-responsive megaloblastic anemia, Thrombocytopenia	OMIM:249270
Thyrocerebroretinal Syndrome	Thrombocytopenia	OMIM:274240
Aicardi-Goutieres Syndrome 5	Thrombocytopenia	OMIM:612952
Cog4-Cdg	Thick hair, Thrombocytopenia, Hepatosplenomegaly	ORPHA:263501
Takenouchi-Kosaki Syndrome	Increased mean platelet volume, Highly arched eyebrow, Sparse eyebrow, Synophrys, Upslanted palpe...	OMIM:616737
Hoyeraal-Hreidarsson Syndrome	Abnormal leukocyte morphology, Sparse scalp hair, Thrombocytopenia, Premature graying of hair, Na...	ORPHA:3322
Idiopathic Aplastic Anemia	Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Thrombocytopenia	ORPHA:88
Moyamoya Disease 6 With Or Without Achalasia	Thrombocytopenia	OMIM:615750
Acrofrontofacionasal Dysostosis 1	Iris atrophy, Long eyebrows, Widow's peak, Long eyelashes, S-shaped palpebral fissures, Ptosis	OMIM:201180
Hypoparathyroidism, Familial Isolated, 1	Cataract	OMIM:146200
Coats Disease	Leukocoria	OMIM:300216
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Anemia, Increased mean corpuscular volume, Er...	OMIM:617021
Wiskott-Aldrich Syndrome	Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Keratitis, Thrombocytopenia,...	ORPHA:906
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Increased mean platelet volume, Thrombocytopenia, Splenomegaly, Impaired ADP-in...	OMIM:153670
Proboscis Lateralis	Abnormal eyebrow morphology, Epicanthus, Cataract, Corneal opacity, Abnormal location of the eyeb...	ORPHA:141099
Autoimmune Polyendocrine Syndrome, Type Ii	Alopecia, Cataract, Band keratopathy, Asplenia, Keratoconjunctivitis, Iron deficiency anemia	OMIM:269200
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis	OMIM:300367
Schimke Immuno-Osseous Dysplasia	Corneal opacity, Thrombocytopenia, Decreased proportion of naive CD8 T cells, Abnormal proportion...	ORPHA:1830
Gaucher Disease Type 1	Osteopenia, Pancytopenia, Increased bone mineral density, Hypersplenism, Splenomegaly, Osteolysis...	ORPHA:77259
Collagenoma, Familial Cutaneous	Iris atrophy, Congenital posterior occipital alopecia	OMIM:115250
Deafness-Lymphedema-Leukemia Syndrome	Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Myeloproliferative disorde...	ORPHA:3226
Platelet Disorder, Undefined	Impaired platelet aggregation, Thrombocytopenia	OMIM:173420
Beemer-Ertbruggen Syndrome	Increased bone mineral density, Thrombocytopenia	ORPHA:1237
Systemic Lupus Erythematosus	Hemolytic anemia, Thrombocytopenia, Leukopenia	OMIM:152700
Dyskeratosis Congenita, Autosomal Recessive 2	Pancytopenia, Nail dystrophy, Thrombocytopenia	OMIM:613987
Transaldolase Deficiency	Pancytopenia, Splenomegaly, Synophrys, Hepatosplenomegaly, Anemia, Thrombocytopenia	OMIM:606003
Intellectual Developmental Disorder, X-Linked, Syndromic 17	Anisocoria	OMIM:300858
Intermediate Uveitis	Anterior uveitis, Posterior synechiae of the anterior chamber, Cataract, Band keratopathy	ORPHA:279914
Rhabdoid Tumor	Thrombocytopenia, Anemia	ORPHA:69077
Stevens-Johnson Syndrome	Entropion, Abnormality of neutrophils, Thrombocytopenia, Corneal erosion, Conjunctivitis, Anemia	ORPHA:36426
Jacobsen Syndrome	Epicanthus, Cataract, Ectropion, Microcornea, Aplasia/Hypoplasia of the eyebrow, Eyelid coloboma,...	ORPHA:2308
Neonatal Lupus Erythematosus	Hemolytic anemia, Pancytopenia, Aplastic anemia, Splenomegaly, Anemia, Neutropenia, Thrombocytopenia	ORPHA:398124
Omenn Syndrome	Alopecia, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia of t...	OMIM:603554
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis...	ORPHA:98849
Familial Dysautonomia	Corneal opacity, Abnormal pupil morphology, Corneal erosion, Osteolysis, Heterochromia iridis	ORPHA:1764
Proteasome-Associated Autoinflammatory Syndrome 2	B lymphocytopenia, Increased CD4:CD8 ratio, Decreased proportion of memory B cells, Thrombocytopenia	OMIM:618048
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Cataract, Severe B lymphocytopenia, Craniosynostosis, Blepharophimosis, Thrombo...	OMIM:620005
Toxic Epidermal Necrolysis	Entropion, Corneal erosion, Anemia, Conjunctivitis, Neutropenia, Thrombocytopenia	ORPHA:537
Congenital Fibrosis Of Extraocular Muscles	Cataract, Levator palpebrae superioris atrophy, Anisocoria, Congenital fibrosis of extraocular mu...	ORPHA:45358
Weill-Marchesani Syndrome 2	Iridodonesis, Cataract, Lens luxation, Ectopia lentis, Microspherophakia, Shallow anterior chambe...	OMIM:608328
Congenital Disorder Of Glycosylation, Type Iig	Osteopenia, Giant platelets, Upslanted palpebral fissure, Anemia, Downslanted palpebral fissures,...	OMIM:611209
Immunodeficiency 91 And Hyperinflammation	Neutrophilia, Hepatosplenomegaly, Monocytosis, Hemophagocytosis, Thrombocytopenia	OMIM:619644
Scalp-Ear-Nipple Syndrome	Epicanthus, Cataract, Telecanthus, Palpebral edema, Sparse axillary hair, Blepharophimosis, Spars...	OMIM:181270
Proteasome-Associated Autoinflammatory Syndrome 3	Splenomegaly, Anemia, Conjunctivitis, Lymphopenia, Thrombocytopenia	OMIM:617591
Congenital Disorder Of Glycosylation, Type Iil	Epicanthus, Splenomegaly, Pancytopenia, Thrombocytopenia	OMIM:614576
Felty Syndrome	Splenomegaly, Osteolysis, Anemia, Neutropenia, Abnormal lymphocyte morphology, Thrombocytopenia	ORPHA:47612
Shigellosis	Leukocytosis, Uveitis, Conjunctivitis, Microangiopathic hemolytic anemia, Splenic abscess, Cornea...	ORPHA:810
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Decreased proportion of CD4-p...	ORPHA:101096
Chédiak-Higashi Syndrome	Abnormal leukocyte morphology, Hypopigmentation of hair, Pancytopenia, Thrombocytopenia, Large cl...	ORPHA:167
Avian Influenza	Leukopenia, Lymphopenia, Conjunctivitis, Thrombocytopenia	ORPHA:454836
Cornelia De Lange Syndrome 1	Curly eyelashes, Highly arched eyebrow, Thrombocytopenia, Synophrys, Low posterior hairline, Micr...	OMIM:122470
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities	Thrombocytopenia	OMIM:616577
Immune Thrombocytopenia	Thrombocytopenia	ORPHA:3002
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Normochromic anemia, Thrombocytopenia, Neutropenia	OMIM:614857
Stt3B-Cdg	Thrombocytopenia	ORPHA:370924
Hermansky-Pudlak Syndrome	Hypopigmentation of hair, Cataract, Abnormality of thrombocytes, Ocular albinism, Astigmatism, Lo...	ORPHA:79430
Neuroocular Syndrome	Cataract, Brittle hair, Highly arched eyebrow, Lagophthalmos, Brushfield spots, Synophrys, Lens c...	OMIM:619539
Lathosterolosis	Epicanthus, Cataract, Increased mean platelet volume, Acanthocytosis, Schistocytosis, Osteoporosi...	OMIM:607330
Alagille Syndrome	Keratoconus, Abnormal pupil morphology, Downslanted palpebral fissures, Corneal dystrophy	ORPHA:52
Quebec Platelet Disorder	Thrombocytopenia, Impaired epinephrine-induced platelet aggregation	OMIM:601709
Congenital Disorder Of Glycosylation, Type Ix	Thrombocytopenia	OMIM:615597
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Epicanthus, Telecanthus, Thick hair, Thrombocytopenia, Hepatosplenomegaly, Leukopenia, Long eyela...	ORPHA:505248
21Q22.11Q22.12 Microdeletion Syndrome	Almond-shaped palpebral fissure, Anemia, Downslanted palpebral fissures, Nail dystrophy, Hypoplas...	ORPHA:261323
Incontinentia Pigmenti	Alopecia, Cataract, Eosinophilia, Supernumerary nipple, Keratitis, Leukocytosis, Uveitis, Fine ha...	OMIM:308300
Relapsing Fever	Neutrophilia, Leukocytosis, Anemia, Leukopenia, Thrombocytopenia	ORPHA:91547
Pearson Marrow-Pancreas Syndrome	Sideroblastic anemia, Pancytopenia, Thrombocytopenia, Reticulocytopenia, Neutropenia, Punctate ke...	OMIM:557000
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Hepatosp...	ORPHA:331206
Fanconi Anemia	Pyridoxine-responsive sideroblastic anemia, Epicanthus, Cataract, Abnormal eyelid morphology, Alm...	ORPHA:84
Fibular Hemimelia	Craniosynostosis, Abnormal anterior chamber morphology, Thrombocytopenia, Abnormal bone ossification	ORPHA:93323
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Pancytopenia, Epicanthus, Megaloblastic anemia, Anemia, Neutropenia, Thrombocytopenia	OMIM:277380
Diamond-Blackfan Anemia 1	Macrocytic anemia, Epicanthus, Congenital hypoplastic anemia, Primary congenital glaucoma, Reticu...	OMIM:105650
Mogs-Cdg	Alopecia, Thrombocytopenia, Hepatosplenomegaly, Long eyelashes, Fair hair, Short palpebral fissur...	ORPHA:79330
Combined Oxidative Phosphorylation Deficiency 55	Epicanthus, Bilateral ptosis, Anemia, Hypophosphatemic rickets, Thrombocytopenia	OMIM:619743
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome	Thrombocytopenia, Hepatosplenomegaly	ORPHA:210136
Refractory Anemia With Excess Blasts	Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular ...	ORPHA:86839
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Osteopenia, Thrombocytopenia, Osteoporosis, Fine hair, Premature graying of hair, Nail dystrophy,...	OMIM:612199
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Hypochromic microcytic anemia, Osteopetrosis, Thrombocytopenia	ORPHA:3240
Miller Fisher Syndrome	Anisocoria, Ptosis, Mydriasis	ORPHA:98919
Portal Hypertension, Noncirrhotic, 2	Splenomegaly, Thrombocytopenia	OMIM:619463
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Amegakaryocytic thrombocytopenia, Aplastic anemia, Congenital thrombocytopenia	OMIM:605432
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Thrombocytopenia, Broad eyebrow, Sacral hypertrichosis, Highly arched eyebrow	ORPHA:457351
Congenital Disorder Of Glycosylation, Type Ih	Thrombocytopenia, Anemia	OMIM:608104
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Leukopenia, Thrombocytopenia, Pancytopenia, Anemia	OMIM:613845
Knobloch Syndrome 1	Epicanthus, Telecanthus, Band keratopathy, Chorioretinal atrophy, Developmental cataract, Iris tr...	OMIM:267750
Scalp-Ear-Nipple Syndrome	Telecanthus, Cataract, Palpebral edema, Eyelid coloboma, Breast aplasia, Sparse hair	ORPHA:2036
Sympathetic Ophthalmia	Alopecia, Cataract, Poliosis, Anterior chamber cells, Posterior synechiae of the anterior chamber...	ORPHA:79098
Macrophage Activation Syndrome	Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Abnormal natural killer cell count, Thromboc...	ORPHA:158061
Pierson Syndrome	Rieger anomaly, Cataract, Hypoplasia of the ciliary body, Uveal ectropion, Hypoplasia of the iris...	OMIM:609049
Agammaglobulinemia 9, Autosomal Recessive	Thrombocytopenia, Absent circulating B cells	OMIM:619693
Acute Promyelocytic Leukemia	Pancytopenia, Leukocytosis, Anemia, Leukopenia, Neutropenia, Thrombocytopenia	ORPHA:520
Oculopalatocerebral Syndrome	Leukocoria	OMIM:257910
Congenital Enterovirus Infection	Abnormal macrophage morphology, Leukocytosis, Anemia, Leukopenia, Neutropenia, Thrombocytopenia	ORPHA:292
Enhanced S-Cone Syndrome	Cataract	OMIM:268100
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Thrombocytopenia	OMIM:617710
Letterer-Siwe Disease	Thrombocytopenia, Neutropenia, Anemia, Hepatosplenomegaly	OMIM:246400
Gaucher Disease, Type I	Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia	OMIM:230800
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Leukopenia, Thrombocytopenia, Neutropenia	OMIM:251000
Good Syndrome	Abnormal leukocyte morphology, Thrombocytopenia, Anemia, Ptosis	ORPHA:169105
Hereditary Folate Malabsorption	Pancytopenia, Eosinophilia, Thrombocytopenia, Megaloblastic anemia	ORPHA:90045
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Anemia, Irregular ossification...	OMIM:260400
Hepatoportal Sclerosis	Hypersplenism, Splenomegaly, Anemia, Leukopenia, Thrombocytopenia	ORPHA:64743
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Epicanthus, Cataract, Sparse eyelashes, Sparse eyebrow, Widow's peak, Eyelid coloboma, Ptosis	ORPHA:306542
Cholesteryl Ester Storage Disease	Bone-marrow foam cells, Hypersplenism, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Leukop...	OMIM:278000
Stormorken Syndrome	Howell-Jolly bodies, Asplenia, Anemia, Hypoplastic spleen, Thrombocytopenia	OMIM:185070
Drug-Induced Lupus Erythematosus	Thrombocytopenia, Anemia	ORPHA:231111
Pediatric Systemic Lupus Erythematosus	Alopecia, Leukopenia, Microangiopathic hemolytic anemia, Lymphopenia, Thrombocytopenia	ORPHA:93552
Boutonneuse Fever	Leukopenia, Thrombocytopenia	ORPHA:83313
Snakebite Envenomation	Thrombocytopenia	ORPHA:449285
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Thrombocytopenia, Anemia, Neutropenia	OMIM:614520
Diffuse Alveolar Hemorrhage	Thrombocytopenia, Leukocytosis, Anemia	ORPHA:90060
Fanconi Anemia, Complementation Group C	Pancytopenia, Epicanthus, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia	OMIM:227645
Phace Syndrome	Cataract, Sclerocornea, Lens coloboma, Abnormality of the orbital region, Heterochromia iridis, I...	ORPHA:42775
Mirage Syndrome	Radial club hand, Anemia, Leukopenia, Hypoplastic spleen, Lymphopenia, Thrombocytopenia	OMIM:617053
Von Willebrand Disease, Type 3	Impaired platelet aggregation, Thrombocytopenia	OMIM:277480
Nephronophthisis 11	Anisocoria, Anemia	OMIM:613550
Thrombocytopenia 3	Thrombocytopenia, Decreased mean platelet volume	OMIM:273900
Oculocerebrorenal Syndrome Of Lowe	Sparse scalp hair, Cataract, Corneal opacity, Chorioretinal dysplasia, Osteomalacia, Abnormal pup...	ORPHA:534
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia	OMIM:612924
Nijmegen Breakage Syndrome	Conjunctival telangiectasia, Autoimmune hemolytic anemia, Epicanthus, Upslanted palpebral fissure...	OMIM:251260
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia	OMIM:612926
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Pancytopenia, Abnormal lymphocyte count, Thrombocytopenia, Abnormal natural killer cell count, He...	ORPHA:79124
Multiple System Atrophy 1, Susceptibility To	Iris atrophy, Ptosis	OMIM:146500
Pearson Syndrome	Reticulocytosis, Pancytopenia, Cataract, Thrombocytopenia, Splenomegaly, Corneal stromal edema, N...	ORPHA:699
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Increased mean platelet volume, Highly arched eyebrow, Sparse eyebrow, Synophrys, Upslanted palpe...	ORPHA:487796
Cyclic Neutropenia	Decreased eosinophil count, Lymphopenia, Cyclic neutropenia, Thrombocytopenia	ORPHA:2686
Shwachman-Diamond Syndrome	Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane...	ORPHA:811
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Cataract, Synophrys, Bone cyst, Osteolysis, Downslanted palpebral fissures, Anemia	ORPHA:3042
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Normochromic anemia, Alopecia totalis, Thrombocytopenia	OMIM:618775
Intellectual Disability-Alacrima-Achalasia Syndrome	Anisocoria	ORPHA:289483
Dengue Fever	Leukopenia, Thrombocytopenia	ORPHA:99828
Wilson Disease	Hemolytic anemia, Osteomalacia, Splenomegaly, Osteoporosis, Anemia, Kayser-Fleischer ring, Thromb...	OMIM:277900
Cutis Marmorata Telangiectatica Congenita	Leukocoria	OMIM:219250
Gaucher Disease	Osteopenia, Pancytopenia, Increased bone mineral density, Corneal opacity, Splenomegaly, Osteolys...	ORPHA:355
Familial Hemophagocytic Lymphohistiocytosis	Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Thrombocytopenia	ORPHA:540
Methylmalonic Aciduria, Cblb Type	Thrombocytopenia, Pancytopenia, Anemia, Neutropenia	OMIM:251110
22Q11.2 Deletion Syndrome	Telecanthus, Cataract, Epicanthus, Abnormality of thrombocytes, Abnormal eyelid morphology, Splen...	ORPHA:567
Kasabach-Merritt Syndrome	Reticulocytosis, Thrombocytopenia, Leukopenia, Microangiopathic hemolytic anemia, Neutropenia, An...	ORPHA:2330
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia	OMIM:612925
Hemophagocytic Lymphohistiocytosis, Familial, 2	Pancytopenia, Splenomegaly, Hepatosplenomegaly, Anemia, Leukopenia, Hemophagocytosis, Thrombocyto...	OMIM:603553
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Decreased hemoglobin concentration, Highly arched eyebrow, Long eyelashes, Short palpebral fissur...	OMIM:619005
Acquired Purpura Fulminans	Thrombocytopenia	ORPHA:49566
Sarcoidosis	Hemolytic anemia, Alopecia, Cataract, Eosinophilia, Thrombocytopenia, Increased T cell count, Dac...	ORPHA:797
Nijmegen Breakage Syndrome	Abnormal hair quantity, Hemolytic anemia, Autoimmune hemolytic anemia, Abnormal eyelid morphology...	ORPHA:647
Thrombocytopenia-Absent Radius Syndrome	Cataract, Corneal opacity, Eosinophilia, Thrombocytopenia, Leukocytosis, Hepatosplenomegaly, Anem...	OMIM:274000
Igg4-Related Dacryoadenitis And Sialadenitis	Palpebral edema, Enlarged lacrimal glands, Abnormality of the orbital region, Abnormal lacrimal d...	ORPHA:79078
Lysinuric Protein Intolerance	Splenomegaly, Osteoporosis, Fine hair, Anemia, Leukopenia, Hemophagocytosis, Sparse hair, Thrombo...	OMIM:222700
Blau Syndrome	Nongranulomatous uveitis, Cataract, Band keratopathy, Uveitis, Iritis	OMIM:186580
Fanconi Anemia, Complementation Group E	Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia	OMIM:600901
Roberts Syndrome	Sparse hair, Craniosynostosis, Cataract, Thrombocytopenia	ORPHA:3103
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Leukocytosis, Thrombocytopenia	ORPHA:83601
Alg12-Cdg	Epicanthus, Low posterior hairline, B lymphocytopenia, Abnormal bone ossification, Thrombocytopenia	ORPHA:79324
Thrombotic Thrombocytopenic Purpura, Hereditary	Reticulocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia	OMIM:274150
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Nongranulomatous uveitis, Anterior uveitis, Cataract, Choroidal neovasculariza...	ORPHA:91500
Hemophagocytic Lymphohistiocytosis, Familial, 1	Splenomegaly, Anemia, Leukopenia, Hemophagocytosis, Thrombocytopenia	OMIM:267700
Holocarboxylase Synthetase Deficiency	Alopecia, Thrombocytopenia	OMIM:253270
Pseudo-Torch Syndrome 3	Leukocytosis, Congenital thrombocytopenia, Anemia	OMIM:618886
Fanconi Anemia, Complementation Group A	Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia	OMIM:227650
Necrotizing Enterocolitis	Leukocytosis, Thrombocytopenia, Neutropenia	ORPHA:391673
Neurocardiofaciodigital Syndrome	Cataract, Sclerocornea, Sparse eyebrow, Narrow palpebral fissure, Sparse hair	OMIM:619869
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Intermittent thrombocytopenia, Erythroid hypoplasia, Thrombocytopenia, Splenomegaly, Hepatospleno...	OMIM:612541
Kaposiform Lymphangiomatosis	Splenomegaly, Osteolysis, Hepatosplenomegaly, Anemia, Abnormal spleen morphology, Thrombocytopenia	ORPHA:464329
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Reticulocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia	OMIM:235400
Neonatal Marfan Syndrome	Iridodonesis, Megalocornea, Downslanted palpebral fissures, Ectopia lentis	ORPHA:284979
Immunodeficiency 40	T lymphocytopenia, Thrombocytopenia	OMIM:616433
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Iris atrophy, Cataract, Osteoporosis, Absent anterior chamber of the eye	OMIM:259770
Maternal Uniparental Disomy Of Chromosome 6	Thrombocytopenia	ORPHA:96181
Hemophagocytic Syndrome Associated With An Infection	Pancytopenia, Splenomegaly, Abnormal T cell subset distribution, Anemia, Hemophagocytosis, Neutro...	ORPHA:158048
Pseudo-Torch Syndrome 2	Thrombocytopenia	OMIM:617397
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Osteopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia in presence of ...	ORPHA:391487
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Pancytopenia, Corneal opacity, Abnormality of the spleen, Splenomegaly, Hepatosplenomegaly, Anemi...	ORPHA:2072
Mitochondrial Complex I Deficiency, Nuclear Type 20	Thrombocytopenia	OMIM:611126
Methylmalonic Aciduria, Cbla Type	Thrombocytopenia, Pancytopenia, Anemia, Neutropenia	OMIM:251100
Immunodeficiency With Hyper-Igm, Type 1	Splenomegaly, Hemolytic anemia, Thrombocytopenia, Neutropenia	OMIM:308230
Aicardi-Goutieres Syndrome 1	Splenomegaly, Thrombocytopenia	OMIM:225750
Paroxysmal Nocturnal Hemoglobinuria	Hemolytic anemia, Reticulocytosis, Pancytopenia, Abnormal erythrocyte enzyme level, Conjunctival ...	ORPHA:447
Combined Oxidative Phosphorylation Deficiency 14	Thrombocytopenia, Anemia	OMIM:614946
Caroli Syndrome	Hypersplenism, Conjunctival icterus, Leukocytosis, Leukopenia, Thrombocytopenia	ORPHA:480520
Fanconi Anemia, Complementation Group D2	Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Blepharophimosis, Leukemia, Thrombocytopenia	OMIM:227646
Thrombocytopenia 1	Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent thrombocytopenia	OMIM:313900
Gaucher Disease Type 3	Pancytopenia, Increased bone mineral density, Splenomegaly, Osteolysis, Anemia, Thrombocytopenia	ORPHA:77261
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Thrombocytopenia	OMIM:208085
Ebola Hemorrhagic Fever	Leukopenia, Lymphopenia, Thrombocytopenia	ORPHA:319218
Castleman Disease	Myelofibrosis, Decreased mean corpuscular volume, Thrombocytopenia, Anemia	ORPHA:160
Sepsis In Premature Infants	Splenomegaly, Leukocytosis, Anemia, Neutropenia, Thrombocytopenia	ORPHA:90051
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Thrombocytopenia, Blepharitis, Lymphocytosis, Decreased mean platelet volume	OMIM:617718
Catastrophic Antiphospholipid Syndrome	Coombs-positive hemolytic anemia, Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:464343
Primary Sjögren Syndrome	Normocytic anemia, Leukopenia, Keratoconjunctivitis sicca, Normochromic anemia, Decreased proport...	ORPHA:289390
Blue Rubber Bleb Nevus	Iron deficiency anemia, Thrombocytopenia	OMIM:112200
Gaucher Disease, Perinatal Lethal	Splenomegaly, Thrombocytopenia, Anemia, Hepatosplenomegaly	OMIM:608013
Vexas Syndrome	Macrocytic anemia, Thrombocytopenia	OMIM:301054
Fanconi Anemia, Complementation Group B	Aplastic anemia, Thrombocytopenia	OMIM:300514
Immunodeficiency 22	Decreased proportion of CD4-positive helper T cells, Thrombocytopenia, Anemia	OMIM:615758
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Bilateral ptosis, Upslanted palpebral fissure, Anemia, Downslanted palpebral fissures, Thrombocyt...	ORPHA:163979
Proteasome-Associated Autoinflammatory Syndrome 1	Sparse axillary hair, Microcytic anemia, Splenomegaly, Punctate opacification of the cornea, Prem...	OMIM:256040
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hemolytic anemia, Corneal opacity, Polycoria, Developmental cataract, Microcornea, Hypoplasia of ...	OMIM:175780
Charcot-Marie-Tooth Disease Type 1E	Anisocoria, Abnormal pupil morphology	ORPHA:90658
Overlap Myositis	Leukopenia, Thrombocytopenia	ORPHA:206572
Acyl-Coa Dehydrogenase 9 Deficiency	Thrombocytopenia	ORPHA:99901
Ogden Syndrome	Epicanthus, Abnormal eyelid morphology, Sparse eyebrow, Bilateral ptosis, Fine hair, Iron deficie...	OMIM:300855
Deeah Syndrome	Decreased hemoglobin concentration, Epicanthus, Thrombocytopenia, Low posterior hairline, Short p...	OMIM:619004
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Osteolysis involving bones of the upper limbs, Osteolysis, Thrombocytopenia, Osteolysis involving...	ORPHA:464321
Fanconi Anemia, Complementation Group F	Leukopenia, Thrombocytopenia, Anemia	OMIM:603467
Idiopathic Hypereosinophilic Syndrome	Myelofibrosis, Neutrophilia, Eosinophilia, Thrombocytopenia, Leukocytosis, Splenomegaly, Hepatosp...	ORPHA:3260
Lujo Hemorrhagic Fever	Leukopenia, Leukocytosis, Lymphopenia, Thrombocytopenia	ORPHA:319213
Wars2-Related Combined Oxidative Phosphorylation Defect	Thrombocytopenia	ORPHA:572798
Aicardi-Goutières Syndrome	Neonatal alloimmune thrombocytopenia, Developmental glaucoma, Chronic lymphatic leukemia, Hepatos...	ORPHA:51
Bacterial Toxic-Shock Syndrome	Increased circulating metamyelocyte count, Increased circulating myelocyte count, Thrombocytopenia	ORPHA:36234
Ivic Syndrome	Leukocytosis, Thrombocytopenia	ORPHA:2307
Shwachman-Diamond Syndrome 2	Normocytic anemia, Thrombocytopenia, Neutropenia	OMIM:617941
Hellp Syndrome	Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Microangiopathic hemolytic...	ORPHA:244242
Norrie Disease	Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ectopia lentis, Abnormal...	ORPHA:649
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Splenomegaly, Thrombocytopenia	OMIM:251880
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Neutropenia, Thrombocytopenia, Megaloblastic anemia	OMIM:277400
Marburg Hemorrhagic Fever	Reticulocytosis, Lymphopenia, Neutrophilia in presence of infection, Uveitis, Leukopenia, Conjunc...	ORPHA:99826
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Abnormality iris morphology	ORPHA:91387
Gaucher Disease, Type Ii	Splenomegaly, Thrombocytopenia, Anemia	OMIM:230900
Rift Valley Fever	Anemia, Thrombocytopenia, Uveitis	ORPHA:319251
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Reticulocytosis, Leukocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:90038
Kikuchi-Fujimoto Disease	Alopecia, Palpebral edema, Thrombocytopenia, Splenomegaly, Leukopenia, Lymphocytosis, Neutropenia...	ORPHA:50918
Fetal And Neonatal Alloimmune Thrombocytopenia	Neonatal alloimmune thrombocytopenia	ORPHA:853
Immunodeficiency 47	Normocytic anemia, Accessory spleen, Splenomegaly, Leukopenia, Thrombocytopenia	OMIM:300972
Osteogenesis Imperfecta	Osteopenia, Corneal opacity, Osteoporosis, Abnormal cortical bone morphology, Decreased skull oss...	ORPHA:666
Ivic Syndrome	Leukocytosis, Thrombocytopenia	OMIM:147750
Digeorge Syndrome	Sclerocornea, Thrombocytopenia, Splenomegaly, Hypoplasia of the thymus, Blepharophimosis, Posteri...	OMIM:188400
Wiskott-Aldrich Syndrome	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m...	OMIM:301000
Thrombocytopenia-Absent Radius Syndrome	Thrombocytopenia	ORPHA:3320
Osteopetrosis With Renal Tubular Acidosis	Pancytopenia, Anemia, Leukopenia, Elliptocytosis, Osteopetrosis, Thrombocytopenia	ORPHA:2785
Insulin-Resistance Syndrome Type B	Thrombocytopenia, Leukopenia, Alopecia, Hirsutism	ORPHA:2298
Brucellosis	Anterior uveitis, Hypersplenism, Thrombocytopenia, Leukocytosis, Splenomegaly, Chorioretinitis, L...	ORPHA:1304
Q Fever	Splenomegaly, Thrombocytopenia, Anemia, Hepatosplenomegaly	ORPHA:781
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Normochromic anemia, Thrombocytopenia	OMIM:254900
Neuroleptic Malignant Syndrome	Thrombocytosis, Leukocytosis, Thrombocytopenia	ORPHA:94093
Retinoblastoma	Leukocoria, Uveitis, Leukemia, Hypopyon, Heterochromia iridis	ORPHA:790
Leptospirosis	Thrombocytopenia, Chorioretinitis, Conjunctival hyperemia, Uveitis	ORPHA:509
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Neutropenia, Thrombocytopenia, Megaloblastic anemia	ORPHA:79282
Tick-Borne Encephalitis	Leukopenia, Leukocytosis, Thrombocytopenia	ORPHA:297
Lysinuric Protein Intolerance	Osteopenia, Osteoporosis, Hepatosplenomegaly, Anemia, Leukopenia, Hemophagocytosis, Thrombocytopenia	ORPHA:470
Retinoblastoma	Leukemia, Leukocoria	OMIM:180200
Aicardi-Goutieres Syndrome 7	Hemolytic anemia, Pancytopenia, Splenomegaly, Anemia, Thrombocytopenia	OMIM:615846
Neurooculorenal Syndrome	Iris atrophy, Highly arched eyebrow	OMIM:620305
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Splenomegaly, Thrombocytopenia	OMIM:301072
Crimean-Congo Hemorrhagic Fever	Pancytopenia, Neutrophilia, Splenomegaly, Leukocytosis, Leukopenia, Conjunctivitis, Thrombocytopenia	ORPHA:99827
Hardikar Syndrome	Lacrimal duct stenosis, Hypersplenism, Splenomegaly, Osteoporosis, Hepatosplenomegaly, Thrombocyt...	OMIM:301068
Immunodeficiency 87 And Autoimmunity	Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic...	OMIM:619573
Systemic Lupus Erythematosus	Leukopenia, Alopecia, Hemolytic anemia, Thrombocytopenia	ORPHA:536
Chronic Visceral Acid Sphingomyelinase Deficiency	Osteopenia, Autoimmune thrombocytopenia, Hypersplenism, Splenomegaly, Osteoporosis, Acute promyel...	ORPHA:77293
Noonan Syndrome 1	Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Epicanthus, Low posterior hai...	OMIM:163950
Congenital Disorder Of Glycosylation, Type Iiw	Microcytic anemia, Splenomegaly, Osteoporosis, Anemia, Thrombocytopenia	OMIM:619525
Hemorrhagic Fever-Renal Syndrome	Thrombocytopenia, Leukocytosis, Anemia	ORPHA:340
Striate Palmoplantar Keratoderma	Abnormal hair morphology	ORPHA:50942
Liver Disease, Severe Congenital	Dry hair, Epicanthus, Splenomegaly, Anemia, Leukopenia, Nail dystrophy, Lymphocytosis, Thrombocyt...	OMIM:619991
Infection-Related Hemolytic Uremic Syndrome	Hemolytic anemia, Leukocytosis, Thrombocytopenia	ORPHA:544482
Vascular Ehlers-Danlos Syndrome	Keratoconus, Alopecia, Telecanthus, Hypoplastic lacrimal duct, Epicanthus, Abnormality of hair te...	ORPHA:286
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Iris atrophy, Telecanthus, Cataract, Epicanthus, Highly arched eyebrow, Asplenia, Abnormal pupil ...	ORPHA:261552
Autosomal Recessive Polycystic Kidney Disease	Hypersplenism, Splenomegaly, Thrombocytopenia, Hepatosplenomegaly	ORPHA:731
Exercise-Induced Malignant Hyperthermia	Thrombocytopenia	ORPHA:466650
Yellow Fever	Leukocytosis, Neutrophilia, Thrombocytopenia	ORPHA:99829
Acute Liver Failure	Thrombocytopenia	ORPHA:90062
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Sparse hair	OMIM:615508
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse	Yellow nails, Nail dystrophy	OMIM:148700

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Dsg1b

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Dsg1b.

There are 4 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation.	G3 (Bethesda, Md.) (June 2020)	Dsg1b^{tm1a(KOMP)Wtsi}	PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Dsg1b^{tm1a(KOMP)Wtsi}	PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Dsg1b^{tm1a(KOMP)Wtsi}	PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation.	Scientific data (September 2017)	Dsg1b^{tm1a(KOMP)Wtsi}	PMC5827107

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All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Dsg1b^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Dsg1b^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Dsg1b MGI:2664357

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

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Legacy Phenotype Associated Images

Human diseases caused by Dsg1b mutations

Histopathology

IMPC related publications

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