Gene: Ugt1a6b MGI:3580629
Log in to followHuman diseases caused by Ugt1a6b mutations
The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.
Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.
The table below shows human diseases predicted to be associated to Ugt1a6b by phenotypic similarity.
Disease | Similarity of phenotypes |
Matching phenotypes | Source |
---|---|---|---|
Nanophthalmos 1 | Bilateral microphthalmos | OMIM:600165 | |
Microphthalmia, Isolated 7 | Microphthalmia | OMIM:613704 | |
Nanophthalmos 2 | Microphthalmia | OMIM:609549 | |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome | Anophthalmia, Microphthalmia | ORPHA:85275 | |
Microphthalmia, Isolated 1 | Anophthalmia, Microphthalmia | OMIM:251600 | |
Microphthalmia, Isolated, With Coloboma 7 | Microphthalmia | OMIM:614497 | |
Microphthalmia, Isolated, With Coloboma 10 | Anophthalmia, Microphthalmia | OMIM:616428 | |
Microphthalmia, Isolated 3 | Anophthalmia, Microphthalmia | OMIM:611038 | |
Macrosomia With Microphthalmia, Lethal | Microphthalmia | OMIM:248110 | |
Premature Ovarian Failure 12 | Microphthalmia | OMIM:616947 | |
Nanophthalmos 4 | Microphthalmia | OMIM:615972 | |
Microphthalmia, Isolated, With Coloboma 5 | Anophthalmia, Bilateral microphthalmos, Microphthalmia | OMIM:611638 | |
Microphthalmia, Isolated, With Cataract 1 | Microphthalmia | OMIM:156850 | |
Microphthalmia, Isolated, With Coloboma 4 | Microphthalmia | OMIM:251505 | |
Microphthalmia, Isolated, With Coloboma 6 | Bilateral microphthalmos, Hypoplasia of the fovea, Optic disc hypoplasia | OMIM:613703 | |
Microphthalmia, Isolated, With Coloboma 3 | Microphthalmia | OMIM:610092 | |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 | Microphthalmia | OMIM:616335 | |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies | Microphthalmia | OMIM:251700 | |
Gombo Syndrome | Microphthalmia | OMIM:233270 | |
Fryns Microphthalmia Syndrome | Anophthalmia, Microphthalmia | OMIM:600776 | |
Microphthalmia, Isolated 4 | Microphthalmia | OMIM:613094 | |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 | Microphthalmia | OMIM:615771 | |
Microphthalmia, Isolated 8 | Optic nerve hypoplasia, Anophthalmia, True anophthalmia, Microphthalmia | OMIM:615113 | |
Cataract 11, Multiple Types | Microphthalmia | OMIM:610623 | |
Dextrocardia With Unusual Facies And Microphthalmia | Anophthalmia, Microphthalmia | OMIM:221950 | |
Nanophthalmos | Microphthalmia | ORPHA:35612 | |
Microphthalmia, Syndromic 12 | Anophthalmia, Microphthalmia | OMIM:615524 | |
Anencephaly 2 | Anophthalmia | OMIM:619452 | |
Congenital Primary Aphakia | Congenital aphakia, Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye | ORPHA:83461 | |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome | Microphthalmia | ORPHA:1574 | |
Microphthalmia, Isolated, With Corectopia | Microphthalmia | OMIM:156900 | |
Microphthalmia, Isolated 6 | Microphthalmia | OMIM:613517 | |
Meckel Syndrome, Type 8 | Anophthalmia, Microphthalmia | OMIM:613885 | |
Manitoba Oculotrichoanal Syndrome | Anophthalmia, Microphthalmia | OMIM:248450 | |
Foveal Hypoplasia 2 | Hypoplasia of the fovea, Microphthalmia | OMIM:609218 | |
Macrosomia-Microphthalmia-Cleft Palate Syndrome | Microphthalmia | ORPHA:2432 | |
Congenital Varicella Syndrome | Microphthalmia | ORPHA:291 | |
Cerebrooculofacioskeletal Syndrome 3 | Microphthalmia | OMIM:616570 | |
Oculocerebrocutaneous Syndrome | Anophthalmia, Microphthalmia | OMIM:164180 | |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development | Microphthalmia | OMIM:120433 | |
Cryptophthalmos, Unilateral Or Bilateral, Isolated | Microphthalmia | OMIM:123570 | |
Mmep Syndrome | Microphthalmia | ORPHA:3434 | |
Myopia 27, Autosomal Dominant | Increased axial length of the globe | OMIM:618827 | |
Microphthalmia, Syndromic 11 | Microphthalmia | OMIM:614402 | |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 | Microphthalmia | OMIM:614830 | |
Oculotrichoanal Syndrome | Anophthalmia, Microphthalmia | ORPHA:2717 | |
Xeroderma Pigmentosum, Complementation Group G | Microphthalmia | OMIM:278780 | |
Faciothoracogenital Syndrome | Microphthalmia | OMIM:227320 | |
Fanconi Anemia, Complementation Group J | Microphthalmia | OMIM:609054 | |
Microcephaly-Microcornea Syndrome, Seemanova Type | Microphthalmia | ORPHA:2528 | |
Adams-Oliver Syndrome 4 | Microphthalmia | OMIM:615297 | |
Ehlers-Danlos Syndrome, Beasley-Cohen Type | Bilateral microphthalmos | OMIM:608763 | |
Cataract 9, Multiple Types | Microphthalmia | OMIM:604219 | |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma | Microphthalmia | OMIM:267760 | |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome | Anophthalmia | ORPHA:411986 | |
Idiopathic Uveal Effusion Syndrome | Microphthalmia | ORPHA:209956 | |
Biemond Syndrome Type 2 | Microphthalmia | ORPHA:141333 | |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 | Microphthalmia | OMIM:616171 | |
Fanconi Anemia, Complementation Group G | Microphthalmia | OMIM:614082 | |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy | Microphthalmia | OMIM:212550 | |
Microphthalmia, Syndromic 5 | Optic nerve hypoplasia, Anophthalmia, Microphthalmia | OMIM:610125 | |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis | Microphthalmia | OMIM:610023 | |
Anterior Segment Dysgenesis 7 | Buphthalmos, Microphthalmia | OMIM:269400 | |
Dihydropyrimidine Dehydrogenase Deficiency | Microphthalmia | OMIM:274270 | |
Microphthalmia, Syndromic 13 | Microphthalmia | OMIM:300915 | |
Anophthalmia Plus Syndrome | Anophthalmia | ORPHA:1104 | |
Microcephaly 20, Primary, Autosomal Recessive | Optic nerve hypoplasia, Microphthalmia | OMIM:617914 | |
Craniotelencephalic Dysplasia | Optic nerve hypoplasia, Microphthalmia | OMIM:218670 | |
Solitary Median Maxillary Central Incisor | Anophthalmia, Microphthalmia | OMIM:147250 | |
Xk Aprosencephaly Syndrome | Microphthalmia | ORPHA:3469 | |
Microphthalmia With Brain And Digit Anomalies | Anophthalmia, Microphthalmia | ORPHA:139471 | |
Isolated Optic Nerve Hypoplasia/Aplasia | Optic nerve hypoplasia, Aplasia/Hypoplasia of the iris, Optic disc hypoplasia, Unilateral microph... | ORPHA:137902 | |
Trisomy 13 | Aplasia/Hypoplasia of the iris, Anophthalmia, Microphthalmia | ORPHA:3378 | |
2Q24 Microdeletion Syndrome | Microphthalmia | ORPHA:1617 | |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome | Anophthalmia, Microphthalmia | ORPHA:77298 | |
Hydrolethalus | Anophthalmia, Microphthalmia | ORPHA:2189 | |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome | Microphthalmia | ORPHA:324416 | |
Cerebrooculonasal Syndrome | Anophthalmia | ORPHA:66625 | |
Microphthalmia With Limb Anomalies | Anophthalmia, Microphthalmia | OMIM:206920 | |
Matthew-Wood Syndrome | Anophthalmia, Microphthalmia | ORPHA:2470 | |
Craniotelencephalic Dysplasia | Septo-optic dysplasia, Microphthalmia | ORPHA:1528 | |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome | Microphthalmia | OMIM:601794 | |
Cofs Syndrome | Microphthalmia | ORPHA:1466 | |
Cat-Eye Syndrome | Microphthalmia | ORPHA:195 | |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome | Microphthalmia | ORPHA:231736 | |
Microphthalmia, Syndromic 8 | Microphthalmia | OMIM:601349 | |
Anterior Segment Dysgenesis 5 | Rieger anomaly, Microphthalmia, Hypoplasia of the fovea, Hypoplasia of the iris | OMIM:604229 | |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome | Microphthalmia | ORPHA:363741 | |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome | Microphthalmia | ORPHA:1135 | |
Microphthalmia, Isolated 5 | Microphthalmia | OMIM:611040 | |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability | Microphthalmia | ORPHA:1473 | |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 | Microphthalmia | OMIM:251270 | |
Frontonasal Dysplasia 3 | Microphthalmia | OMIM:613456 | |
Cockayne Syndrome Type 2 | Anophthalmia | ORPHA:90322 | |
Braddock-Carey Syndrome 2 | Microphthalmia | OMIM:619981 | |
Walker-Warburg Syndrome | Anophthalmia, Microphthalmia | ORPHA:899 | |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness | Microphthalmia | OMIM:617306 | |
Oculopalatocerebral Syndrome | Microphthalmia | OMIM:257910 | |
Oculogastrointestinal Neurodevelopmental Syndrome | Bilateral microphthalmos, Unilateral microphthalmos | OMIM:619318 | |
Pierpont Syndrome | Microphthalmia | ORPHA:487825 | |
Trisomy 1Q | Anophthalmia | ORPHA:261344 | |
Joubert Syndrome 22 | Microphthalmia | OMIM:615665 | |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 | Optic nerve hypoplasia, Microphthalmia | OMIM:615181 | |
Autosomal Dominant Keratitis | Hypoplastic iris stroma, Hypoplasia of the fovea, Bilateral microphthalmos, Macular hypoplasia, A... | ORPHA:2334 | |
Microphthalmia-Microtia-Fetal Akinesia Syndrome | Microphthalmia | ORPHA:2547 | |
Hartsfield Syndrome | Microphthalmia | ORPHA:2117 | |
Warburg Micro Syndrome 1 | Microphthalmia | OMIM:600118 | |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome | Microphthalmia | ORPHA:48431 | |
Lissencephaly 8 | Microphthalmia | OMIM:617255 | |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome | Anophthalmia, Microphthalmia | OMIM:615877 | |
Temtamy Syndrome | Microphthalmia | ORPHA:1777 | |
Pierpont Syndrome | Microphthalmia | OMIM:602342 | |
17Q12 Microduplication Syndrome | Microphthalmia | ORPHA:261272 | |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome | Microphthalmia | OMIM:602501 | |
Congenital Toxoplasmosis | Microphthalmia | ORPHA:858 | |
Anterior Segment Dysgenesis 2 | Congenital aphakia, Anterior segment of eye aplasia, Aniridia, Microphthalmia | OMIM:610256 | |
Adams-Oliver Syndrome 2 | Microphthalmia | OMIM:614219 | |
Seckel Syndrome 2 | Microphthalmia | OMIM:606744 | |
Triokinase And Fmn Cyclase Deficiency Syndrome | Microphthalmia | OMIM:618805 | |
Developmental Delay With Variable Neurologic And Brain Abnormalities | Microphthalmia | OMIM:619694 | |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome | Microphthalmia | ORPHA:93267 | |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures | Optic nerve hypoplasia, Microphthalmia | OMIM:614833 | |
Meckel Syndrome, Type 5 | Microphthalmia | OMIM:611561 | |
Methylmalonate Semialdehyde Dehydrogenase Deficiency | Microphthalmia | OMIM:614105 | |
Developmental And Epileptic Encephalopathy 1 | Microphthalmia | OMIM:308350 | |
Baraitser-Winter Syndrome 2 | Microphthalmia | OMIM:614583 | |
Nance-Horan Syndrome | Microphthalmia | ORPHA:627 | |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome | Anophthalmia, Microphthalmia | ORPHA:2250 | |
Congenital Rubella Syndrome | Aplasia/Hypoplasia of the iris, Microphthalmia | ORPHA:290 | |
Microphthalmia, Syndromic 3 | Optic nerve hypoplasia, Optic nerve aplasia, Anophthalmia, Microphthalmia | OMIM:206900 | |
Microphthalmia, Syndromic 9 | Anophthalmia, Bilateral microphthalmos | OMIM:601186 | |
Rodrigues Blindness | Microphthalmia | OMIM:268320 | |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 | Microphthalmia | OMIM:613153 | |
Cerebrooculofacioskeletal Syndrome 2 | Microphthalmia | OMIM:610756 | |
Bartsocas-Papas Syndrome 2 | Microphthalmia | OMIM:619339 | |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome | Anophthalmia, Aniridia | ORPHA:1101 | |
Osteoporosis-Pseudoglioma Syndrome | Microphthalmia | ORPHA:2788 | |
Vacterl With Hydrocephalus | Anophthalmia, Microphthalmia | ORPHA:3412 | |
Joubert Syndrome 21 | Anophthalmia | OMIM:615636 | |
Spondylo-Ocular Syndrome | Aplasia/Hypoplasia of the lens, Microphthalmia | ORPHA:85194 | |
Ring Chromosome 10 Syndrome | Microphthalmia | ORPHA:1438 | |
Cockayne Syndrome Type 1 | Anophthalmia | ORPHA:90321 | |
Frontonasal Dysplasia 1 | Microphthalmia | OMIM:136760 | |
Bresek Syndrome | Optic nerve hypoplasia, Microphthalmia | ORPHA:85284 | |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 | Microphthalmia | OMIM:619053 | |
Subaortic Stenosis-Short Stature Syndrome | Microphthalmia | ORPHA:3191 | |
Coloboma, Ocular, Autosomal Dominant | Optic nerve aplasia, Microphthalmia | OMIM:120200 | |
Chromosome 17Q12 Duplication Syndrome | Microphthalmia | OMIM:614526 | |
Neurooculocardiogenitourinary Syndrome | Microphthalmia | OMIM:618652 | |
Fibular Hemimelia | Anophthalmia | ORPHA:93323 | |
Nasopalpebral Lipoma-Coloboma Syndrome | Microphthalmia | OMIM:167730 | |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia | Microphthalmia | OMIM:300863 | |
Pelvis-Shoulder Dysplasia | Microphthalmia | OMIM:169550 | |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 | Abnormally large globe, Microphthalmia | OMIM:615249 | |
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type | Bilateral microphthalmos | OMIM:600122 | |
Cerebrooculofacioskeletal Syndrome 1 | Microphthalmia | OMIM:214150 | |
Joubert Syndrome 14 | Microphthalmia | OMIM:614424 | |
Microgastria-Limb Reduction Defects Association | Anophthalmia | OMIM:156810 | |
Microphthalmia-Brain Atrophy Syndrome | Bilateral microphthalmos | ORPHA:77299 | |
Exudative Vitreoretinopathy 2, X-Linked | Microphthalmia | OMIM:305390 | |
Fanconi Anemia, Complementation Group S | Microphthalmia | OMIM:617883 | |
Congenital Disorder Of Glycosylation, Type Iq | Microphthalmia | OMIM:612379 | |
Cerebrooculonasal Syndrome | Optic nerve hypoplasia, Anophthalmia | OMIM:605627 | |
Holoprosencephaly | Anophthalmia, Microphthalmia | ORPHA:2162 | |
Microphthalmia, Isolated, With Coloboma 9 | Microphthalmia | OMIM:615145 | |
Joubert Syndrome 37 | Microphthalmia | OMIM:619185 | |
14Q22Q23 Microdeletion Syndrome | Optic nerve aplasia, Anophthalmia | ORPHA:264200 | |
Gracile Bone Dysplasia | Aniridia, Microphthalmia | OMIM:602361 | |
Monosomy 18P | Microphthalmia | ORPHA:1598 | |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation | Microphthalmia | OMIM:152950 | |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies | Optic nerve hypoplasia, Bilateral microphthalmos | OMIM:607597 | |
Vitreoretinochoroidopathy | Microphthalmia | OMIM:193220 | |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome | Lens coloboma, Microphthalmia | OMIM:618914 | |
Meckel Syndrome, Type 2 | Microphthalmia | OMIM:603194 | |
Stevenson-Carey Syndrome | Microphthalmia | OMIM:611961 | |
Holoprosencephaly 9 | Optic nerve hypoplasia, Anophthalmia, Microphthalmia | OMIM:610829 | |
Myoclonic-Astatic Epilepsy | Microphthalmia | ORPHA:1942 | |
Microgastria-Limb Reduction Defect Syndrome | Anophthalmia, Microphthalmia | ORPHA:2538 | |
Norrie Disease | Buphthalmos, Hypoplasia of the iris, Microphthalmia | OMIM:310600 | |
Meckel Syndrome | Aplasia/Hypoplasia of the iris, Anophthalmia, Microphthalmia | ORPHA:564 | |
Otodental Syndrome | Lens coloboma, Microphthalmia | ORPHA:2791 | |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type | Microphthalmia | ORPHA:163966 | |
Curry-Jones Syndrome | Microphthalmia | ORPHA:1553 | |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome | Microphthalmia | ORPHA:228390 | |
Sandestig-Stefanova Syndrome | Microphthalmia | OMIM:618804 | |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome | Microphthalmia | ORPHA:163649 | |
Baraitser-Winter Syndrome 1 | Microphthalmia | OMIM:243310 | |
Moebius Syndrome | Microphthalmia | OMIM:157900 | |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 | Buphthalmos, Microphthalmia | OMIM:616538 | |
Congenital Muscular Dystrophy With Cerebellar Involvement | Optic nerve hypoplasia, Microphthalmia | ORPHA:370959 | |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome | Anophthalmia, Microphthalmia | ORPHA:2526 | |
Congenital Fibrinogen Deficiency | Microphthalmia | ORPHA:335 | |
Rere-Related Neurodevelopmental Syndrome | Microphthalmia | ORPHA:494344 | |
Fanconi Anemia, Complementation Group I | Optic nerve hypoplasia, Microphthalmia | OMIM:609053 | |
Meckel Syndrome, Type 4 | Microphthalmia | OMIM:611134 | |
Curry-Jones Syndrome | Microphthalmia | OMIM:601707 | |
Nasopalpebral Lipoma-Coloboma Syndrome | Bilateral microphthalmos, Microphthalmia | ORPHA:2399 | |
Frontofacionasal Dysplasia | Microphthalmia | ORPHA:1791 | |
Kapur-Toriello Syndrome | Microphthalmia | ORPHA:2328 | |
Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects | Microphthalmia | OMIM:600123 | |
Refsum Disease | Microphthalmia | ORPHA:773 | |
Skin Creases, Congenital Symmetric Circumferential, 2 | Microphthalmia | OMIM:616734 | |
Warburg Micro Syndrome 4 | Microphthalmia | OMIM:615663 | |
Familial Exudative Vitreoretinopathy | Microphthalmia | ORPHA:891 | |
Fetal Alcohol Syndrome | Microphthalmia | ORPHA:1915 | |
Warburg Micro Syndrome 3 | Microphthalmia | OMIM:614222 | |
Trichothiodystrophy 3, Photosensitive | Microphthalmia | OMIM:616395 | |
Microphthalmia With Linear Skin Defects Syndrome | Anophthalmia, Microphthalmia | ORPHA:2556 | |
Proboscis Lateralis | Optic nerve hypoplasia, Anophthalmia, Microphthalmia | ORPHA:141099 | |
Heart And Brain Malformation Syndrome | Microphthalmia | OMIM:616920 | |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency | Microphthalmia | ORPHA:404440 | |
Ectodermal Dysplasia-Blindness Syndrome | Microphthalmia | ORPHA:1806 | |
Trichothiodystrophy 4, Nonphotosensitive | Microphthalmia | OMIM:234050 | |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type | Microphthalmia | ORPHA:2728 | |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome | Microphthalmia | ORPHA:1352 | |
Nance-Horan Syndrome | Microphthalmia | OMIM:302350 | |
Ritscher-Schinzel Syndrome 3 | Microphthalmia | OMIM:619135 | |
Warburg Micro Syndrome 2 | Microphthalmia | OMIM:614225 | |
Microphthalmia, Syndromic 2 | Phthisis bulbi, Anophthalmia, Microphthalmia | OMIM:300166 | |
3P25.3 Microdeletion Syndrome | Microphthalmia | ORPHA:435638 | |
Marden-Walker Syndrome | Microphthalmia | OMIM:248700 | |
Persistent Hyperplastic Primary Vitreous | Buphthalmos, Macular hypoplasia, Phthisis bulbi, Microphthalmia | ORPHA:91495 | |
3Q29 Microduplication Syndrome | Aniridia, Microphthalmia | ORPHA:251038 | |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive | Buphthalmos, Phthisis bulbi, Microphthalmia | OMIM:221900 | |
Microcephaly-Micromelia Syndrome | Microphthalmia | OMIM:251230 | |
Multiple Benign Circumferential Skin Creases On Limbs | Microphthalmia | ORPHA:2505 | |
Charge Syndrome | Anophthalmia, Microphthalmia | ORPHA:138 | |
Encephalocraniocutaneous Lipomatosis | Hypoplasia of the iris, Microphthalmia | OMIM:613001 | |
Fraser Syndrome 1 | Anophthalmia, Bilateral microphthalmos | OMIM:219000 | |
Oculofaciocardiodental Syndrome | Microphthalmia | ORPHA:2712 | |
Chromosome 1Q41-Q42 Deletion Syndrome | Microphthalmia | OMIM:612530 | |
Tetraamelia-Multiple Malformations Syndrome | Septo-optic dysplasia, Microphthalmia | ORPHA:3301 | |
Focal Dermal Hypoplasia | Aniridia, Anophthalmia, Microphthalmia | OMIM:305600 | |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency | Bilateral microphthalmos | ORPHA:369891 | |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies | Microphthalmia | OMIM:618571 | |
Isolated Arrhinia | Microphthalmia | ORPHA:1134 | |
Cerebrooculofacioskeletal Syndrome 4 | Bilateral microphthalmos | OMIM:610758 | |
Skin Creases, Congenital Symmetric Circumferential, 1 | Microphthalmia | OMIM:156610 | |
Xeroderma Pigmentosum, Complementation Group B | Microphthalmia | OMIM:610651 | |
X-Linked Dominant Chondrodysplasia Punctata | Microphthalmia | ORPHA:35173 | |
Fraser Syndrome | Anophthalmia, Microphthalmia | ORPHA:2052 | |
Xeroderma Pigmentosum, Complementation Group D | Microphthalmia | OMIM:278730 | |
Micro Syndrome | Microphthalmia | ORPHA:2510 | |
Kapur-Toriello Syndrome | Microphthalmia | OMIM:244300 | |
Adams-Oliver Syndrome | Microphthalmia | ORPHA:974 | |
Osteoporosis-Pseudoglioma Syndrome | Phthisis bulbi, Microphthalmia | OMIM:259770 | |
Microphthalmia With Limb Anomalies | True anophthalmia, Microphthalmia | ORPHA:1106 | |
Phace Association | Optic nerve hypoplasia, Microphthalmia | OMIM:606519 | |
Oculodentodigital Dysplasia, Autosomal Recessive | Microphthalmia | OMIM:257850 | |
Frontorhiny | Microphthalmia | ORPHA:391474 | |
Martsolf Syndrome 1 | Microphthalmia | OMIM:212720 | |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies | Microphthalmia | OMIM:618727 | |
Blepharophimosis, Ptosis, And Epicanthus Inversus | Microphthalmia | OMIM:110100 | |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 | Buphthalmos, Microphthalmia | OMIM:613150 | |
Chromosome 13Q33-Q34 Deletion Syndrome | Microphthalmia | OMIM:619148 | |
Subaortic Stenosis--Short Stature Syndrome | Microphthalmia | OMIM:271960 | |
Trichothiodystrophy 1, Photosensitive | Microphthalmia | OMIM:601675 | |
Chondrodysplasia Punctata 2, X-Linked Dominant | Microphthalmia | OMIM:302960 | |
8Q21.11 Microdeletion Syndrome | Microphthalmia | ORPHA:284160 | |
Frontonasal Dysplasia 2 | Microphthalmia | OMIM:613451 | |
Oculoauricular Syndrome | Microphakia, Phthisis bulbi, Macular hypoplasia, Microphthalmia | OMIM:612109 | |
Chromosome 8Q21.11 Deletion Syndrome | Microphthalmia | OMIM:614230 | |
3Q29 Microdeletion Syndrome | Microphthalmia | ORPHA:65286 | |
Charge Syndrome | Anophthalmia, Unilateral microphthalmos, Microphthalmia | OMIM:214800 | |
Microphthalmia, Lenz Type | Microphthalmia | ORPHA:568 | |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 | Optic nerve hypoplasia, Microphthalmia | OMIM:614643 | |
Stromme Syndrome | Optic nerve hypoplasia, Microphthalmia | OMIM:243605 | |
Microphthalmia, Syndromic 6 | Anophthalmia, Microphthalmia | OMIM:607932 | |
Pierson Syndrome | Microphthalmia, Rieger anomaly, Hypoplasia of the iris, Hypoplasia of the ciliary body, Macular h... | OMIM:609049 | |
Pseudotrisomy 13 Syndrome | Microphthalmia | OMIM:264480 | |
Mosaic Trisomy 1 | Microphthalmia | ORPHA:1692 | |
Galloway-Mowat Syndrome 3 | Microphthalmia | OMIM:617729 | |
Fanconi Anemia, Complementation Group F | Microphthalmia | OMIM:603467 | |
Meckel Syndrome 14 | Microphthalmia | OMIM:619879 | |
Oculo-Palato-Cerebral Syndrome | Microphthalmia | ORPHA:2714 | |
Cousin Syndrome | Microphthalmia | OMIM:260660 | |
Mosaic Trisomy 9 | Microphthalmia | ORPHA:99776 | |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb | Unilateral microphthalmos | OMIM:618874 | |
Fanconi Anemia, Complementation Group E | Microphthalmia | OMIM:600901 | |
Joubert Syndrome 2 | Microphthalmia | OMIM:608091 | |
Duane-Radial Ray Syndrome | Optic disc hypoplasia, Microphthalmia | OMIM:607323 | |
Branchiooculofacial Syndrome | Anophthalmia, Microphthalmia | OMIM:113620 | |
Cohen Syndrome | Microphthalmia | ORPHA:193 | |
Fryns Syndrome | Microphthalmia | ORPHA:2059 | |
Momo Syndrome | Bilateral microphthalmos | ORPHA:2563 | |
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome | Microphthalmia | ORPHA:1236 | |
Galloway-Mowat Syndrome 1 | Hypoplasia of the iris, Microphthalmia | OMIM:251300 | |
Papillorenal Syndrome | Microphthalmia | OMIM:120330 | |
Fanconi Anemia, Complementation Group A | Microphthalmia | OMIM:227650 | |
Linear Nevus Sebaceus Syndrome | Microphthalmia | ORPHA:2612 | |
Basel-Vanagaite-Smirin-Yosef Syndrome | Microphthalmia | ORPHA:464738 | |
Steinfeld Syndrome | Microphthalmia | OMIM:184705 | |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 | Microphthalmia | OMIM:253800 | |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly | Microphthalmia | OMIM:616300 | |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome | Microphthalmia | ORPHA:85167 | |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 | Buphthalmos, Optic nerve hypoplasia, Microphthalmia | OMIM:236670 | |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome | Microphthalmia | ORPHA:364577 | |
Focal Dermal Hypoplasia | Hypoplasia of the iris, Microphthalmia | ORPHA:2092 | |
Teebi-Shaltout Syndrome | Microphthalmia | OMIM:272950 | |
Pelvis-Shoulder Dysplasia | Bilateral microphthalmos | ORPHA:2839 | |
1Q21.1 Microdeletion Syndrome | Microphthalmia | ORPHA:250989 | |
Acrofrontofacionasal Dysostosis 1 | Microphthalmia | OMIM:201180 | |
Mycophenolate Mofetil Embryopathy | Microphthalmia | ORPHA:268249 | |
2Q31.1 Microdeletion Syndrome | Microphthalmia | ORPHA:251014 | |
Fanconi Anemia, Complementation Group C | Microphthalmia | OMIM:227645 | |
Jacobsen Syndrome | Macular hypoplasia, Microphthalmia | OMIM:147791 | |
Cat Eye Syndrome | Microphthalmia | OMIM:115470 | |
Kenny-Caffey Syndrome, Type 2 | Microphthalmia | OMIM:127000 | |
Dubowitz Syndrome | Hypoplasia of the iris, Microphthalmia | OMIM:223370 | |
Acro-Renal-Ocular Syndrome | Optic disc hypoplasia, Microphthalmia | ORPHA:959 | |
Incontinentia Pigmenti | Hypoplasia of the fovea, Microphthalmia | OMIM:308300 | |
Trisomy 18 | Microphthalmia | ORPHA:3380 | |
Hallermann-Streiff Syndrome | Microphthalmia | OMIM:234100 | |
Incontinentia Pigmenti | Microphthalmia | ORPHA:464 | |
Oculodentodigital Dysplasia | Microphthalmia | OMIM:164200 | |
Monosomy 9Q22.3 | Microphthalmia | ORPHA:77301 | |
Histiocytoid Cardiomyopathy | Congenital aphakia, Microphthalmia | ORPHA:137675 | |
Basal Cell Nevus Syndrome | Microphthalmia | OMIM:109400 | |
Pallister-Hall Syndrome | Microphthalmia | OMIM:146510 | |
Phace Syndrome | Optic nerve hypoplasia, Lens coloboma, Microphthalmia | ORPHA:42775 | |
Fanconi Anemia, Complementation Group L | Microphthalmia | OMIM:614083 | |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome | Optic nerve hypoplasia, Microphthalmia | ORPHA:508498 | |
Fanconi Anemia, Complementation Group D2 | Microphthalmia | OMIM:227646 | |
Rothmund-Thomson Syndrome, Type 2 | Microphthalmia | OMIM:268400 | |
Hallermann-Streiff Syndrome | Microphthalmia | ORPHA:2108 | |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs | Microphthalmia | OMIM:601552 | |
Short-Rib Thoracic Dysplasia 20 With Polydactyly | Microphthalmia | OMIM:617925 | |
Aicardi Syndrome | Microphthalmia | ORPHA:50 | |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome | Microphthalmia | OMIM:620005 | |
Cockayne Syndrome B | Hypoplasia of the iris, Microphthalmia | OMIM:133540 | |
Mosaic Variegated Aneuploidy Syndrome | Microphthalmia | ORPHA:1052 | |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart | Microphthalmia | OMIM:616975 | |
Holoprosencephaly-Postaxial Polydactyly Syndrome | Microphthalmia | ORPHA:2166 | |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome | Microphthalmia | ORPHA:3186 | |
Bosma Arhinia Microphthalmia Syndrome | Microphthalmia | OMIM:603457 | |
Linear Skin Defects With Multiple Congenital Anomalies 1 | Microphthalmia | OMIM:309801 | |
Treacher-Collins Syndrome | Microphthalmia | ORPHA:861 | |
Mend Syndrome | Microphthalmia | ORPHA:401973 | |
Craniofacial Microsomia | Anophthalmia, Microphthalmia | OMIM:164210 | |
Aicardi Syndrome | Microphthalmia | OMIM:304050 | |
Monosomy 13Q14 | Microphthalmia | ORPHA:1587 | |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 | Hypoplasia of the retina, Buphthalmos, Microphthalmia | OMIM:253280 | |
Frontofacionasal Dysplasia | Microphthalmia | OMIM:229400 | |
Bartsocas-Papas Syndrome 1 | Microphthalmia | OMIM:263650 | |
Microphthalmia, Syndromic 1 | Anophthalmia, Microphthalmia | OMIM:309800 | |
Cockayne Syndrome Type 3 | Microphthalmia | ORPHA:90324 | |
Trichothiodystrophy | Bilateral microphthalmos | ORPHA:33364 | |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia | Microphthalmia | OMIM:609945 | |
Monosomy 9P | Microphthalmia | ORPHA:261112 | |
Roberts Syndrome | Microphthalmia | ORPHA:3103 | |
Fanconi Anemia | Aplasia/Hypoplasia of the iris, Microphthalmia | ORPHA:84 | |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome | Microphthalmia | ORPHA:306542 | |
Tetraamelia Syndrome 1 | Microphthalmia | OMIM:273395 | |
Myhre Syndrome | Microphthalmia | OMIM:139210 | |
Oculocerebrorenal Syndrome Of Lowe | Buphthalmos, Microphthalmia | ORPHA:534 | |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency | Optic nerve hypoplasia, Bilateral microphthalmos | ORPHA:468631 | |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly | Microphthalmia | OMIM:608670 | |
22Q11.2 Deletion Syndrome | Microphthalmia | ORPHA:567 | |
Chromosome 13Q14 Deletion Syndrome | Microphthalmia | OMIM:613884 | |
Cockayne Syndrome | Microphthalmia | ORPHA:191 | |
Holoprosencephaly 7 | Bilateral microphthalmos | OMIM:610828 | |
Fryns Syndrome | Microphthalmia | OMIM:229850 | |
Adams-Oliver Syndrome 1 | Microphthalmia | OMIM:100300 | |
Meckel Syndrome, Type 1 | Microphthalmia | OMIM:249000 | |
Degcags Syndrome | Microphthalmia | OMIM:619488 | |
Fontaine Progeroid Syndrome | Microphthalmia | OMIM:612289 | |
Yunis-Varon Syndrome | Bilateral microphthalmos, Microphthalmia | ORPHA:3472 | |
Renpenning Syndrome 1 | Microphthalmia | OMIM:309500 | |
Autosomal Dominant Kenny-Caffey Syndrome | Bilateral microphthalmos | ORPHA:93325 | |
Lowe Oculocerebrorenal Syndrome | Microphthalmia | OMIM:309000 | |
Neu-Laxova Syndrome 1 | Microphthalmia | OMIM:256520 | |
Neuroocular Syndrome | Hypoplasia of the fovea, Lens coloboma, Microphthalmia | OMIM:619539 | |
Treacher Collins Syndrome 1 | Bilateral microphthalmos | OMIM:154500 | |
Hydrolethalus Syndrome 1 | Microphthalmia | OMIM:236680 | |
Norrie Disease | Hypoplasia of the iris, Aplasia/Hypoplasia of the lens, Microphthalmia | ORPHA:649 | |
Holoprosencephaly 1 | Microphthalmia | OMIM:236100 | |
Witteveen-Kolk Syndrome | Microphthalmia | OMIM:613406 | |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies | Hypoplasia of the iris, Microphthalmia | OMIM:175780 | |
Holoprosencephaly 2 | Microphthalmia | OMIM:157170 | |
Pallister-Hall Syndrome | Microphthalmia | ORPHA:672 | |
Townes-Brocks Syndrome | Microphthalmia | ORPHA:857 | |
Mowat-Wilson Syndrome | Microphthalmia | OMIM:235730 | |
Roberts-Sc Phocomelia Syndrome | Microphthalmia | OMIM:268300 | |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 | Microphthalmia | ORPHA:261537 | |
Mowat-Wilson Syndrome | Microphthalmia | ORPHA:2152 | |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation | Microphthalmia | ORPHA:261552 | |
8Q24.3 Microdeletion Syndrome | Optic nerve hypoplasia, Bilateral microphthalmos | ORPHA:508488 |
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MGI Allele | Allele Type | Produced |
---|---|---|
Ugt1a6bem1(IMPC)Bay | Intra-exon deletion | Mice |
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