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Gene: Slfn14 MGI:2684866

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Gene Summary

Name:
schlafen 14
Synonyms:
Slfn14-ps,  LOC237890

Order Alleles

IMPC Data Collections

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 System Allele Zyg Sex Life Stage P Value
cataract Slfn14em1(IMPC)Tcp HOM   Early adult 3.51×10-05
abnormal stomach morphology Slfn14em1(IMPC)Tcp HOM Early adult 0.00
increased mean corpuscular hemoglobin concentration Slfn14em1(IMPC)Tcp HOM Early adult 1.54×10-07
abnormal retinal vasculature morphology Slfn14em1(IMPC)Tcp HOM   Early adult 5.75×10-06
decreased mean corpuscular volume Slfn14em1(IMPC)Tcp HOM Early adult 7.65×10-10
decreased hematocrit Slfn14em1(IMPC)Tcp HOM   Early adult 1.77×10-05
increased red blood cell distribution width Slfn14em1(IMPC)Tcp HOM Early adult 9.33×10-08
increased mean platelet volume Slfn14em1(IMPC)Tcp HOM Early adult 1.87×10-08
abnormal lens morphology Slfn14em1(IMPC)Tcp HOM Early adult 4.67×10-07
abnormal retinal blood vessel morphology Slfn14em1(IMPC)Tcp HOM   Early adult 5.08×10-06

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

Eye Morphology

Images Slit Lamp

96 Images

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Eye Morphology

Images Ophthalmoscopy

102 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Gross Pathology and Tissue Collection

Images

8 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Electrocardiogram (ECG)

Waveform Image

1 Images

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Human diseases caused by Slfn14 mutations

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

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

The table below shows human diseases associated to Slfn14 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Bleeding Disorder, Platelet-Type, 20
Thrombocytopenia OMIM:616913

The table below shows human diseases predicted to be associated to Slfn14 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hemoglobin D Disease
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... ORPHA:90039
Bleeding Disorder, Platelet-Type, 16
Anemia, Giant platelets, Thrombocytopenia, Macrothrombocytopenia, Platelet anisocytosis, Impaired... OMIM:187800
Bleeding Disorder, Platelet-Type, 24
Impaired epinephrine-induced platelet aggregation, Increased mean platelet volume, Impaired arach... OMIM:619271
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Increased mean platelet volume, Platelet anisocytosis OMIM:615193
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocytopenia, Anemia of inadequate pro... ORPHA:67044
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Anisocytosis, Poikilocytosis, Oval macrocytosis, Anemia of inadequate production OMIM:603529
Giant platelet syndrome with thrombocytopenia
Thrombocytopenia, Gastrointestinal hemorrhage, Giant platelets OMIM:137560
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Giant platelets OMIM:608404
Macrothrombocytopenia and progressive sensorineural deafness
Thrombocytopenia, Macrothrombocytopenia, Giant platelets OMIM:600208
Myh9-Related Disease
Presenile cataracts, Neutrophil inclusion bodies, Increased mean platelet volume, Giant platelets... ORPHA:182050
Intrinsic Factor Deficiency
Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Megaloblastic anemia, Mal... OMIM:261000
Fechtner syndrome
Developmental cataract, Neutrophil inclusion bodies, Leukocyte inclusion bodies, Giant platelets,... OMIM:153640
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... OMIM:300835
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Congenital hemolytic anemia, Reduced red cell pyruvate kinase level, Anemia, Splenomegaly, Anisoc... ORPHA:766
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Absence of intrinsic factor, Megaloblastic anemia OMIM:243320
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal platelet function, Anemia, Abnormal hemoglobin, Splenomegaly, Thrombocytopenia ORPHA:231393
Sebastian syndrome
Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets, Leukocyte inclusion bodies OMIM:605249
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Pyloric stenosis, Increased mean platelet volume, Intestinal pseudo-obstruction, Congenital short... OMIM:300048
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related
Macrothrombocytopenia OMIM:613112
Anemia, Congenital Dyserythropoietic, Type Ia
Erythroid hyperplasia, Splenomegaly, Anisocytosis, Poikilocytosis, Reticulocytosis, Macrocytic dy... OMIM:224120
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Anemia, Congenital Dyserythropoietic, Type Ib
Erythroid hyperplasia, Anemia, Splenomegaly, Anisocytosis, Poikilocytosis, Reticulocytosis, Anemi... OMIM:615631
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract, Rod-cone dystrophy OMIM:300719
Cataract 20, Multiple Types
Cataract, Membranous cataract OMIM:116100
Retinitis Pigmentosa And Erythrocytic Microcytosis
Optic disc pallor, Photoreceptor layer loss on macular OCT, Anemia, Retinal pigment epithelial at... OMIM:616959
Iron-Refractory Iron Deficiency Anemia
Anisocytosis, Poikilocytosis, Hypochromic microcytic anemia OMIM:206200
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Thrombocytosis, Macrocytic anemia, Leukopenia, Erythroid hypoplasia, Acute myeloid leukemia, Anis... ORPHA:86841
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Chorioretinal coloboma, Cataract OMIM:274205
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly OMIM:613978
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets, Leukocyte inclusion bodies OMIM:155100
Beta-Thalassemia, Dominant Inclusion Body Type
Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion bodies, Decre... OMIM:603902
Bernard-Soulier Syndrome
Thrombocytopenia, Gastrointestinal hemorrhage, Giant platelets, Impaired ristocetin-induced plate... OMIM:231200
X-Linked Retinoschisis
Retinoschisis, Cataract ORPHA:792
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Fava bean-induced hemolytic anemia, Cataract OMIM:618660
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly ORPHA:46532
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Abnormal mean corpuscular volume, Splenomegaly, Anisocytosis, Reticulocytosis, He... ORPHA:3203
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Anemia, Abnormal hemoglobin ORPHA:3319
Thanatophoric Dysplasia, Glasgow Variant
Hepatosplenomegaly, Anemia, Cataract OMIM:273680
Delta-Beta-Thalassemia
Microcytic anemia, Anemia, Abnormal hemoglobin ORPHA:231237
Foveal Hypoplasia-Presenile Cataract Syndrome
Optic atrophy, Cataract ORPHA:2253
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Slc35A1-Cdg
Thrombocytopenia, Abnormal platelet granules, Giant platelets, Neutropenia ORPHA:238459
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 36
Cataract OMIM:613887
Cataract 18
Cataract OMIM:610019
Cataract 29
Cataract OMIM:115800
Cataract 35
Cataract OMIM:609376
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Hemoglobin E Disease
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... ORPHA:2133
Chronic Intestinal Pseudoobstruction
Pyloric stenosis, Abnormal intestine morphology, Abnormal platelet morphology, Intestinal malrota... ORPHA:2978
Aniridia 3
Cataract OMIM:617142
Wagner Vitreoretinopathy
Optic atrophy, Vitreoretinopathy, Exudative vitreoretinopathy, Optically empty vitreous, Retinal ... OMIM:143200
Congenital Dyserythropoietic Anemia Type Iii
Increased mean corpuscular volume, Anemia, Melena, Anisocytosis, Poikilocytosis, Abnormal erythro... ORPHA:98870
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Increased mean corpuscular volume, Anemia, Acute myeloid leukemia, Pancytopenia, Thr... OMIM:619041
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Stomatocytosis, Hemolytic anemia, Increased mean platelet volume, Splenomegaly OMIM:153670
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hypochromia, Erythroid hyperplasia, Anemia, Splenomegaly, Hepatosplenomegaly, Anisocytosis, Decre... OMIM:616860
Bleeding Disorder, Platelet-Type, 19
Macrothrombocytopenia, Anemia OMIM:616176
Sitosterolemia 1
Stomatocytosis, Episodic hemolytic anemia, Splenomegaly, Giant platelets, Chronic hemolytic anemi... OMIM:210250
Birdshot Chorioretinopathy
Photoreceptor layer loss on macular OCT, Optic disc pallor, Vitreous floaters, Choroidal neovascu... ORPHA:179
Oculocerebral Hypopigmentation Syndrome Of Preus
High, narrow palate, High palate, Cataract, Hypochromic anemia OMIM:257790
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Optic disc pallor, Cataract OMIM:165300
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Retinal dystrophy, Cataract OMIM:610156
Bardet-Biedl Syndrome 18
Retinal dystrophy, Cataract, Rod-cone dystrophy OMIM:615995
Central Retinal Vein Occlusion
Intraretinal hemorrhage, Abnormal anterior eye segment morphology, Macular edema, Macular degener... ORPHA:411527
Retinal Venous Beading
Neutropenia, Retinal infarction, Retinal neovascularization, Vitreous hemorrhage, Saccular conjun... OMIM:180080
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Coats Disease
Aplasia/Hypoplasia of the iris, Abnormal retinal vascular morphology, Retinal detachment, Catarac... ORPHA:190
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Stickler Syndrome Type 2
Cleft palate, Abnormal vitreous humor morphology, Retinal detachment, Corneal opacity, Cataract, ... ORPHA:90654
Familial Exudative Vitreoretinopathy
Rhegmatogenous retinal detachment, Tractional retinal detachment, Vitreous floaters, Vitreoretino... ORPHA:891
Pelger-Huet Anomaly
Neutropenia, Hyposegmentation of neutrophil nuclei, Median cleft palate, Giant platelets, Thrombo... OMIM:169400
Exudative Vitreoretinopathy 6
Exudative vitreoretinopathy, Retinal detachment, Posterior vitreous detachment, Cataract, Chorior... OMIM:616468
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Retinitis Pigmentosa 84
Macular coloboma, Macular atrophy, Cataract, Rod-cone dystrophy OMIM:618220
Corneal Dystrophy, Groenouw Type I
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy OMIM:121900
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Increased mean corpuscular volume, Acanthocytosis, Splenomegaly, Increased m... OMIM:616689
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Heinz bodies, Splenomegaly, Fava bean-induced hemolytic anemia, Anisocytosis, Poiki... OMIM:300908
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal exudate, Retinal detach... OMIM:133780
Leg, Absence Deformity Of, With Congenital Cataract
Anal atresia, Developmental cataract, Optic nerve dysplasia, Progressive cataract OMIM:246000
Cone-Rod Dystrophy 16
Macular atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, ... OMIM:614500
Polycythemia Vera
Thrombocytosis, Leukocytosis, Increased red blood cell mass, Splenomegaly, Gastrointestinal hemor... OMIM:263300
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Diamond-Blackfan Anemia 3
Macrocytic anemia, Reticulocytopenia, Increased mean corpuscular volume, Persistence of hemoglobin F OMIM:610629
Ceroid Lipofuscinosis, Neuronal, 3
Optic atrophy, Vacuolated lymphocytes, Rod-cone dystrophy, Macular degeneration, Cataract OMIM:204200
Alpha-Thalassemia
Anemia, Abnormal hemoglobin, Splenomegaly, Hypersplenism, Microcytic anemia, Hemolytic anemia ORPHA:846
Sickle Cell Anemia
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Increased mean corpuscular volume, Iron ... ORPHA:232
Megalocornea
Decreased corneal thickness, Corneal arcus, Lens subluxation, Iris transillumination defect, Irid... OMIM:309300
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Macular atrophy, Chorioretinal coloboma, Retinal dystrophy, Iris coloboma, Retinal detachment, Ca... OMIM:212550
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Decreased mean platelet volume, Thrombocytopenia, Inflammation of the large intestine, Lymphocytosis OMIM:617718
Retinitis Pigmentosa 9
Macular atrophy, Bone spicule pigmentation of the retina, Macular edema, Rod-cone dystrophy, Cata... OMIM:180104
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin ORPHA:231401
Diamond-Blackfan Anemia 8
Macrocytic anemia, Neutropenia, Increased mean corpuscular volume OMIM:612563
Orotic Aciduria
Hypochromia, Anisocytosis, Poikilocytosis, Pyrimidine-responsive megaloblastic anemia, Folate-unr... OMIM:258900
Bone Marrow Failure Syndrome 6
Neutropenia, Increased mean corpuscular volume, Anemia, Persistence of hemoglobin F, Squamous cel... OMIM:618849
Erythrocytosis, Familial, 3
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin OMIM:609820
Bernard-Soulier Syndrome
Decreased platelet glycoprotein Ib-IX-V, Impaired ristocetin-induced platelet aggregation, Macrot... ORPHA:274
Retinitis Pigmentosa 37
Cataract, Cystoid macular degeneration, Rod-cone dystrophy, Pigmentary retinopathy OMIM:611131
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Optic atrophy, Macular atrophy, Optic disc pallor, Retinopathy, Cataract, Microcornea OMIM:616171
Intellectual Developmental Disorder And Retinitis Pigmentosa
Optic disc pallor, Cataract, Peripapillary atrophy, Macular degeneration OMIM:618195
Lathosterolosis
High palate, Anisopoikilocytosis, Schistocytosis, Increased mean platelet volume, Acanthocytosis,... OMIM:607330
Rh Deficiency Syndrome
Hemolytic anemia, Macrocytic anemia, Hypochromia, Stomatocytosis, Hepatosplenomegaly, Anisocytosi... ORPHA:71275
Trichomegaly
Cataract OMIM:190330
Erythrocytosis, Familial, 4
Polycythemia, Increased hematocrit, Increased hemoglobin OMIM:611783
Morm Syndrome
Retinal dystrophy, Cataract, Retinal atrophy ORPHA:75858
Vitreoretinal Degeneration, Snowflake Type
Retinal dots, Corneal guttata, Optically empty vitreous, Retinal detachment, Cataract, Snowflake ... OMIM:193230
Erythrocytosis, Familial, 5
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617907
Erythrocytosis, Familial, 6
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617980
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Bilateral cleft lip and palate, Optic atrophy, Chorioretinal coloboma, Posterior embryotoxon, Iri... ORPHA:1473
Microphthalmia, Isolated 5
Foveoschisis, Drusen, Optic disc drusen, Bone spicule pigmentation of the retina, Rod-cone dystro... OMIM:611040
Storage Pool Platelet Disease
Decreased mean platelet volume, Acute leukemia OMIM:185050
Cataract-Microcornea Syndrome
Corneal dystrophy, Iris coloboma, Corneal opacity, Cataract, Microcornea ORPHA:1377
Vitreoretinochoroidopathy
Microcornea, Abnormality of chorioretinal pigmentation, Retinal detachment, Vitreous hemorrhage, ... OMIM:193220
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Developmental cataract, Cataract OMIM:613076
Retinitis Pigmentosa 2
Pigmentary retinopathy, Cataract, Rod-cone dystrophy, Chorioretinal degeneration OMIM:312600
Exudative Vitreoretinopathy 2, X-Linked
Subretinal exudate, Exudative vitreoretinopathy, Retinal hole, Peripheral vitreous opacities, Ret... OMIM:305390
Dehydrated Hereditary Stomatocytosis
Congenital hemolytic anemia, Macrocytic anemia, Schistocytosis, Increased mean corpuscular volume... ORPHA:3202
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Leber Congenital Amaurosis 6
Keratoconus, Cataract, Attenuation of retinal blood vessels OMIM:613826
Familial Pseudohyperkalemia
Stomatocytosis, Episodic hemolytic anemia, Reticulocytosis, Increased mean corpuscular volume ORPHA:90044
Retinitis Pigmentosa 4
Cataract, Rod-cone dystrophy, Pigmentary retinopathy OMIM:613731
Exfoliation Syndrome
Mydriasis, Abnormality of the lens, Lens subluxation, Phakodonesis, Iris hypoperfusion, Retinal v... OMIM:177650
Leber Congenital Amaurosis 2
Keratoconus, Cataract, Fundus atrophy, Pigmentary retinopathy OMIM:204100
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Thrombocytopenia 3
Decreased mean platelet volume, Thrombocytopenia OMIM:273900
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of retinal pigmentation, Optic disc pallor, Retinal fold, Retinal dystrophy, Choriore... OMIM:251270
Takenouchi-Kosaki Syndrome
Optic atrophy, Increased mean platelet volume, Thrombocytopenia OMIM:616737
3-Methylglutaconic Aciduria, Type Vii
Neutropenia, Cataract OMIM:616271
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Anisocytosis, Poikilocytosis, Chronic hemolytic anemia, Reticulocytosis, Decreased mean corpuscul... OMIM:618278
Eales Disease
Rhegmatogenous retinal detachment, Optic disc pallor, Tractional retinal detachment, Vitreous flo... ORPHA:40923
Dominant Beta-Thalassemia
Hypochromic microcytic anemia, Hepatocellular carcinoma, Splenomegaly, Persistence of hemoglobin ... ORPHA:231226
Galactosemia Iv
Cataract OMIM:618881
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Peripheral vitreoretinal degeneration, Cataract, Lens subluxation OMIM:614292
Oslam Syndrome
Abnormality of neutrophils, Increased mean corpuscular volume ORPHA:2760
Cataract 9, Multiple Types
Developmental cataract, Progressive cataract, Iris coloboma, Cataract, Microcornea OMIM:604219
3-Methylglutaconic Aciduria Type 4
Thrombocytopenia, Iris hypopigmentation, Cataract ORPHA:67048
Syndromic Recessive X-Linked Ichthyosis
Acute leukemia, Corneal opacity, Abnormal stomach morphology ORPHA:281090
Norrie Disease
Optic atrophy, Retinal fold, Shallow anterior chamber, Retinal dysplasia, Hypoplasia of the iris,... OMIM:310600
Congenital Rubella Syndrome
Abnormality of retinal pigmentation, Anemia, Aplasia/Hypoplasia of the iris, Splenomegaly, Cornea... ORPHA:290
Ectopia Lentis Et Pupillae
Retinal detachment, Persistent pupillary membrane, Cataract, Ectopia lentis OMIM:225200
Erythrocytosis, Familial, 1
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin, Splenomegaly OMIM:133100
Anterior Segment Dysgenesis 8
Persistent pupillary membrane, Hypoplasia of the iris, Ectopia lentis, Microphakia, Iris transill... OMIM:617319
Leber Congenital Amaurosis 8
Choriocapillaris atrophy, Cataract, Keratoconus OMIM:613835
Diamond-Blackfan Anemia 6
Macrocytic anemia, Cleft palate, Increased mean corpuscular volume, Bifid uvula, Persistence of h... OMIM:612561
Syndromic Diarrhea
Thrombocytosis, Increased mean platelet volume, Villous atrophy, Hypoplasia of the thymus, Hepato... ORPHA:84064
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Microcornea, Cataract, Rod-cone dystrophy OMIM:619082
Cronkhite-Canada Syndrome
Stomach cancer, Gastrointestinal carcinoma, Anemia, Furrowed tongue, Malabsorption, Splenomegaly,... ORPHA:2930
Beta-Thalassemia
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia, Thrombocytopenia ORPHA:848
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Cataract, Retinopathy OMIM:183800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Optic atrophy, Cataract, Retinal dysplasia OMIM:613154
Maternally-Inherited Diabetes And Deafness
Macular dystrophy, Malabsorption, Cataract, Retinopathy, Abnormal chorioretinal morphology ORPHA:225
Vitreoretinopathy, Neovascular Inflammatory
Vitreoretinopathy, Large hyperpigmented retinal spots, Peripheral retinal neovascularization, Ret... OMIM:193235
Ménétrier Disease
Stomach cancer, Helicobacter pylori infection, Abnormal gastric mucosa morphology, Hypochromic mi... ORPHA:2494
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Exudative Vitreoretinopathy 4
Tractional retinal detachment, Exudative vitreoretinopathy, Peripheral retinal avascularization, ... OMIM:601813
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Thrombocytopenia, Paris-Trousseau Type
Pyloric stenosis, Thrombocytopenia OMIM:188025
Leber Congenital Amaurosis 1
Keratoconus, Cataract, Fundus atrophy, Pigmentary retinopathy OMIM:204000
Trichohepatoenteric Syndrome 1
Thrombocytosis, Increased mean platelet volume, Villous atrophy, Bifid uvula OMIM:222470
Absence Deformity Of Leg-Cataract Syndrome
Cataract, Anal atresia ORPHA:2310
Autosomal Dominant Keratitis
Abnormality of the corneal limbus, Hypoplasia of the fovea, Aniridia, Hypoplastic iris stroma, Li... ORPHA:2334
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Chorioretinal coloboma, Cataract ORPHA:2489
Hb Bart'S Hydrops Fetalis
Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:163596
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Thrombocytopenia 1
Decreased mean platelet volume, Congenital thrombocytopenia, Intermittent thrombocytopenia OMIM:313900
Srd5A3-Cdg
Optic atrophy, Optic disc hypoplasia, Rod-cone dystrophy, Microcytic anemia, Cataract ORPHA:324737
Leber Congenital Amaurosis 16
Optic disc pallor, Cataract OMIM:614186
Hemochromatosis, Type 4
Anemia, Cataract OMIM:606069
Galactose Epimerase Deficiency
Cataract, Splenomegaly ORPHA:79238
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Dysphagia, Corneal scarring, Spontaneous esophageal perforation, Anemia, Esophageal stricture, Ca... OMIM:226600
Erythrocytosis, Familial, 2
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin OMIM:263400
Morning Glory Disc Anomaly
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Optic disc coloboma ORPHA:35737
Wiskott-Aldrich Syndrome, Autosomal Dominant
Absent microvilli on the surface of peripheral blood lymphocytes, Inflammation of the large intes... OMIM:600903
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Polycythemia, Methemoglobinemia OMIM:250800
Autosomal Recessive Stickler Syndrome
Cleft palate, Vitreoretinopathy, Retinal detachment, Cataract, Astigmatism ORPHA:250984
Congenital Erythropoietic Porphyria
Hemolytic anemia, Increased fecal coproporphyrin 1, Leukopenia, Erythroid hyperplasia, Increased ... ORPHA:79277
Isolated Aniridia
Aplasia/Hypoplasia of the macula, Cataract, Peters anomaly, Aniridia ORPHA:250923
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Xerostomia, Gastrointestinal carcinoma, Anemia, Malabsorption, Cataract, Glossitis, Hamartomatous... OMIM:175500
Stickler Syndrome, Type Ii
High, narrow palate, Cleft palate, Bifid uvula, Abnormal vitreous humor morphology, Retinal detac... OMIM:604841
Leber Congenital Amaurosis
Keratoconus, Abnormality of retinal pigmentation, Abnormality of the optic disc, Cataract ORPHA:65
Hepatoportal Sclerosis
Esophageal varix, Hepatocellular carcinoma, Leukopenia, Anemia, Gastric varix, Splenomegaly, Gast... ORPHA:64743
Dwarfism With Stiff Joints And Ocular Abnormalities
Retinal detachment, Cataract OMIM:127200
Amoebic Keratitis
Corneal perforation, Decreased corneal sensation, Corneal stromal edema, Iris atrophy, Abnormal p... ORPHA:67043
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Blindness-Scoliosis-Arachnodactyly Syndrome
Abnormality of retinal pigmentation, Lens subluxation, Microphakia, Retinal detachment, Cataract ORPHA:171844
Pyloric Atresia
Congenital pyloric atresia OMIM:265950
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Optic atrophy, Increased mean platelet volume, Thrombocytopenia ORPHA:487796
16Q24.3 Microdeletion Syndrome
Dysphagia, High palate, Increased mean corpuscular volume, Thrombocytopenia, Optic nerve hypoplas... ORPHA:261250
Senior-Loken Syndrome
Retinal dystrophy, Abnormality of retinal pigmentation, Cataract ORPHA:3156
Blackfan-Diamond Anemia
Thrombocytosis, Developmental cataract, High palate, Neutropenia, Elevated red cell adenosine dea... ORPHA:124
Triokinase And Fmn Cyclase Deficiency Syndrome
Microcytic anemia, Cataract OMIM:618805
Wiskott-Aldrich Syndrome
Absent microvilli on the surface of peripheral blood lymphocytes, Impaired lymphocyte transformat... OMIM:301000
Retinopathy, Pigmentary, And Mental Retardation
Cataract, Pigmentary retinopathy OMIM:268050
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Rectal polyposis, Adenomatous colonic polyposis, Multiple gastric polyps, Anemia, Duodenal polypo... ORPHA:329971
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Cataract, Retinal thinning, Asteroid hyalosis OMIM:132450
Gastrointestinal Stromal Tumor
Dysphagia, Neoplasm of the rectum, Gastrointestinal stroma tumor, Neoplasm of the stomach, Neopla... ORPHA:44890
Gyrate Atrophy Of Choroid And Retina
Chorioretinal degeneration, Subcapsular cataract, Cataract, Chorioretinal atrophy, Chorioretinal ... ORPHA:414
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hemolytic anemia, Cataract, Splenomegaly OMIM:608885
Nk-Cell Enteropathy
Intestinal polyp, Duodenal ulcer, Gastric ulcer, Abnormal gastric mucosa morphology, Increased T ... ORPHA:263665
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Reduced beta/alpha synthesis ratio OMIM:609057
Aniridia-Intellectual Disability Syndrome
Aniridia, Optic nerve hypoplasia, Cataract, Ectopia lentis ORPHA:1068
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Persistent pupillary membrane, Corneal opacity, Cataract, Aplasia/Hypoplasia of the iris ORPHA:1067
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Cataract, Aplasia/Hypoplasia of the lens, Anal atresia ORPHA:1381
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cataract, Rod-cone dystrophy, Retinal coloboma OMIM:601794
Oculocerebral Hypopigmentation Syndrome, Preus Type
High palate, Ocular albinism, Hypochromic anemia, Cataract, Iris hypopigmentation, Abnormality of... ORPHA:2720
Congenital Tufting Enteropathy
Villous atrophy, Corneal erosion, Malabsorption, Punctate keratitis, Optic disc coloboma, Abnorma... ORPHA:92050
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Congenital Disorder Of Glycosylation, Type Iif
Decreased platelet glycoprotein Ib, Thrombocytopenia, Macrothrombocytopenia, Neutropenia OMIM:603585
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cataract, Rod-cone dystrophy, Retinal coloboma ORPHA:363741
Serrated Polyposis Syndrome
Colorectal polyposis, Adenomatous colonic polyposis, Biliary tract neoplasm, Neoplasm of the larg... ORPHA:157798
Stickler Syndrome Type 1
Abnormal vitreous humor morphology, Retinal detachment, Cleft palate, Cataract ORPHA:90653
Juvenile Polyposis Syndrome
Rectal prolapse, Neoplasm of the stomach, Multiple gastric polyps, Anemia, Intussusception, Duode... OMIM:174900
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Optic atrophy, Retinal fold, Myopic astigmatism, Chorioretinal dysplasia, Chorioretinal lacunae, ... OMIM:152950
Tempi Syndrome
Polycythemia, Increased hematocrit ORPHA:284227
Coloboma, Ocular, Autosomal Recessive
Lens subluxation, Retinal coloboma, Optic disc coloboma, Iris coloboma, Cataract OMIM:216820
Bardet-Biedl Syndrome 9
Retinal degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Cataract, Atte... OMIM:615986
Diamond-Blackfan Anemia 7
Macrocytic anemia, Cleft palate, Neutropenia, Increased mean corpuscular volume, Esophagitis OMIM:612562
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Megaloblastic anemia, Increased mean corpuscular volume OMIM:277410
Alg8-Cdg
Optic atrophy, Macroglossia, Anemia, Cataract, Retinopathy, Abnormality of the gastrointestinal t... ORPHA:79325
Cataract 47
Microcornea, Cataract OMIM:612018
Peroxisome Biogenesis Disorder 9B
Cataract, Rod-cone dystrophy OMIM:614879
Alpha-Mannosidosis, Adult Form
Optic disc pallor, Macroglossia, Hepatosplenomegaly, Corneal opacity, Cataract, Pancytopenia, Rec... ORPHA:309288
Autosomal Dominant Optic Atrophy, Classic Form
Optic atrophy, Dysphagia, Macrocytic anemia, Temporal optic disc pallor, Morning glory anomaly, C... ORPHA:98673
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Normocytic anemia, Normochromic anemia, Macular edema, Abnormal retinal vascular morphology, Reti... ORPHA:247691
Oculoauricular Syndrome
Iris cyst, Developmental cataract, Chorioretinal coloboma, Morning glory anomaly, Retinal colobom... OMIM:612109
Methylcobalamin Deficiency Type Cble
Pancytopenia, Macrocytic anemia, Neutropenia, Increased mean corpuscular volume ORPHA:2169
Intermediate Uveitis
Vitreous floaters, Macular edema, Optic neuritis, Vitreous snowballs, Cystoid macular edema, Epir... ORPHA:279914
Stromme Syndrome
Cleft palate, Duodenal atresia, Sclerocornea, Optic nerve hypoplasia, Peters anomaly, Jejunal atr... OMIM:243605
Woolly Hair
Abnormal pupil morphology, Cataract, Abnormal retinal morphology ORPHA:170
Galactosemia I
Hemolytic anemia, Cataract OMIM:230400
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, High palate, Microcytic anemia ORPHA:98791
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Aniridia, Microcornea, Cataract OMIM:106230
Polycystic Kidney, Cataract, And Congenital Blindness
Microcoria, Retinal dystrophy, Hypoplasia of the retina, Cataract OMIM:263100
Enhanced S-Cone Syndrome
Vitreoretinopathy, Macular edema, Cataract, Pigmentary retinopathy, Retinoschisis OMIM:268100
Posterior Column Ataxia With Retinitis Pigmentosa
Optic atrophy, Pigmentary retinopathy, Bone spicule pigmentation of the retina, Rod-cone dystroph... OMIM:609033
Anterior Segment Dysgenesis 7
Buphthalmos, Sclerocornea, Cataract, Microcornea, Ocular anterior segment dysgenesis OMIM:269400
Shwachman-Diamond Syndrome
Chronic neutropenia, Macrocytic anemia, Neutropenia, Normocytic anemia, Leukopenia, Increased mea... ORPHA:811
Aniridia 1
Hypoplasia of the fovea, Corneal erosion, Ectopia lentis, Anterior subcapsular cataract, Hypoplas... OMIM:106210
Beta-Thalassemia Intermedia
Leukocytosis, Hepatocellular carcinoma, Erythroid hyperplasia, Splenomegaly, Persistence of hemog... ORPHA:231222
Mevalonic Aciduria
Fluctuating splenomegaly, Nuclear cataract, Leukocytosis, Optic disc pallor, Normocytic hypoplast... OMIM:610377
Hereditary Leiomyomatosis And Renal Cell Cancer
Barrett esophagus, Esophageal neoplasm, Cataract ORPHA:523
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Retinal nonattachment, Shallow anterior chamber, Retinal fold, Persistent pupillary ... OMIM:221900
Persistent Hyperplastic Primary Vitreous
Buphthalmos, Retinal fold, Tractional retinal detachment, Persistent pupillary membrane, Shallow ... ORPHA:91495
Joubert Syndrome 9
Retinal dystrophy, Astigmatism, Cataract OMIM:612285
Griscelli Syndrome
Pyloric stenosis, Leukopenia, Splenomegaly, Iris hypopigmentation, Thrombocytopenia, Abnormality ... ORPHA:381
Scleroderma
Abnormality of the small intestine, Abnormal large intestine morphology, Abnormal stomach morphol... ORPHA:801
Nance-Horan Syndrome
Microcornea, Retinal detachment, Cataract ORPHA:627
Idiopathic Panuveitis
Conjunctival hyperemia, Vitreous floaters, Choroidal neovascularization, Vitreous snowballs, Cyst... ORPHA:280921
Peters Anomaly
Opacification of the corneal stroma, Thinning of Descemet membrane, Peters anomaly, Developmental... ORPHA:708
Microphthalmia With Brain And Digit Anomalies
High palate, Chorioretinal coloboma, Sclerocornea, Retinal dystrophy, Iris coloboma, Cataract, Mi... ORPHA:139471
Pseudo-Torch Syndrome 1
High palate, Thrombocytopenia, Splenomegaly, Cataract, Opacification of the corneal stroma OMIM:251290
Cataract 15, Multiple Types
Nuclear cataract, Developmental cataract, Lamellar cataract, Cortical cataract, Cataract OMIM:615274
Ornithine Transcarbamylase Deficiency
Pyloric stenosis, Splenomegaly ORPHA:664
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Optic atrophy, Aganglionic megacolon, Macroglossia, Volvulus, Abnormal hemoglobin, Anemia, Gastro... ORPHA:847
Anterior Segment Dysgenesis 2
Anterior segment of eye aplasia, Sclerocornea, Congenital aphakia, Aniridia, Peters anomaly, Post... OMIM:610256
Juvenile Sialidosis Type 2
Optic atrophy, Dysphagia, Cherry red spot of the macula, Hepatosplenomegaly, Corneal opacity, Cat... ORPHA:93399
Papillorenal Syndrome
Morning glory anomaly, Macular hyperpigmentation, Retinal coloboma, Optic disc coloboma, Macular ... OMIM:120330
Hereditary Mucoepithelial Dysplasia
Corneal dystrophy, Furrowed tongue, Anorectal anomaly, Tracheoesophageal fistula, Cataract ORPHA:1839
Autoimmune Polyendocrine Syndrome, Type Ii
Asplenia, Iron deficiency anemia, Steatorrhea, Cataract, Band keratopathy, Keratoconjunctivitis OMIM:269200
Congenital Sialidosis Type 2
Optic atrophy, Developmental cataract, Hypoplasia of the fovea, Cherry red spot of the macula, He... ORPHA:93400
Thymoma
Imbalanced hemoglobin synthesis, Neoplasm of the gastrointestinal tract, Leukemia, Pure red cell ... ORPHA:99867
Beta-Thalassemia Major
Anisopoikilocytosis, Hypochromic microcytic anemia, Hepatocellular carcinoma, Splenomegaly, Persi... ORPHA:231214
Proximal Myotonic Myopathy
Cataract ORPHA:606
Shwachman-Diamond Syndrome 1
Neutropenia, Anemia, Persistence of hemoglobin F, Acute myeloid leukemia, Steatorrhea, Pancytopen... OMIM:260400
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
Reduced alpha/beta synthesis ratio, High palate, Hypochromic microcytic anemia, Macroglossia, HbH... OMIM:141750
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Zellweger Syndrome
Pyloric stenosis, Optic atrophy, High palate, Posterior embryotoxon, Brushfield spots, Malabsorpt... ORPHA:912
Vogt-Koyanagi-Harada Disease
Retinal detachment, Cataract ORPHA:3437
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization, Cleft palate OMIM:619074
Aniridia 2
Aniridia, Cataract OMIM:617141
Multiple Sulfatase Deficiency
Optic atrophy, Abnormality of retinal pigmentation, Splenomegaly, Corneal opacity, Cataract ORPHA:585
Oculogastrointestinal Muscular Dystrophy
Abnormal gastric mucosa morphology, Intestinal pseudo-obstruction, Spontaneous esophageal perfora... ORPHA:1876
Duodenal Neuroendocrine Tumor
Gastrointestinal obstruction, Functional intestinal obstruction, Iron deficiency anemia, Melena, ... ORPHA:100076
Oculocerebral Hypopigmentation Syndrome, Cross Type
Choroideremia, Ocular albinism, Anemia, Corneal opacity, Cataract, Iris hypopigmentation ORPHA:2719
Proteus-Like Syndrome
Limbal dermoid, Thymus hyperplasia, Splenomegaly, Heterochromia iridis, Abnormal pupil morphology... ORPHA:2969
Lathosterolosis
High palate, Anisopoikilocytosis, Thrombocytopenia, Abnormal platelet morphology, Cataract, Opaci... ORPHA:46059
Bronchogenic Cyst
Dysphagia, Abnormal stomach morphology, Abnormal esophagus morphology ORPHA:2357
Knobloch Syndrome
Pyloric stenosis, Ectopia lentis, Vitreoretinopathy, Macular degeneration, Abnormal vitreous humo... ORPHA:1571
Hereditary Cryohydrocytosis With Reduced Stomatin
Stomatocytosis, Zonular cataract, Hepatosplenomegaly, Cataract, Spontaneous hemolytic crises ORPHA:168577
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Asplenia, Malabsorption, Cataract, Pigmentary retinopathy, Keratoconjunctivitis, Perifoveal ring ... OMIM:240300
Werner Syndrome
Retinal degeneration, Cataract OMIM:277700
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
B lymphocytopenia, Neutropenia, Leukopenia, Anemia, Reticulocytopenia, Lymphopenia, Cataract, Thr... ORPHA:508542
Aniridia And Absent Patella
Aniridia, Cataract OMIM:106220
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Cataract, Corneal erosion, Ulcerative colitis OMIM:614878
Hermansky-Pudlak Syndrome
Abnormality of the optic nerve, Abnormality of thrombocytes, Neutropenia, Ocular albinism, Malabs... ORPHA:79430
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia, Macroglossia, Protruding tongu... OMIM:301040
Microphthalmia, Syndromic 5
Cleft palate, Retinal dystrophy, Optic nerve hypoplasia, Cataract, Microcornea OMIM:610125
Chronic Granulomatous Disease
Pyloric stenosis, Malabsorption, Splenomegaly, Tracheoesophageal fistula, Abnormality of neutrophils ORPHA:379
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Optic atrophy, Dysphagia, High palate, Cataract, Gastroesophageal reflux OMIM:617913
Systemic Sclerosis
Dysphagia, Abnormality of the small intestine, Abnormal large intestine morphology, Abnormal stom... ORPHA:90291
Microcephalic Primordial Dwarfism, Montreal Type
Congenital pyloric atresia ORPHA:2617
Microgastria-Limb Reduction Defect Syndrome
Microgastria, Perineal fistula, Abnormality of the spleen, Rectovaginal fistula, Esophagitis, Eso... ORPHA:2538
Cataract 5, Multiple Types
Nuclear cataract, Anterior polar cataract, Lamellar cataract, Zonular cataract, Pulverulent cataract OMIM:116800
Gaisböck Syndrome
Increased red blood cell count, Increased mean corpuscular hemoglobin concentration, Increased he... ORPHA:90041
Incontinentia Pigmenti
Optic atrophy, Leukocytosis, Hypoplasia of the fovea, Retinal vascular proliferation, Keratitis, ... OMIM:308300
Mucoepithelial Dysplasia, Hereditary
Melena, Cataract, Opacification of the corneal stroma, Eosinophilia, Keratoconjunctivitis, Cornea... OMIM:158310
Pyloric Stenosis, Infantile Hypertrophic, 1
Pyloric stenosis OMIM:179010
Jacobsen Syndrome
Pyloric stenosis, Optic atrophy, Chorioretinal coloboma, Iris coloboma, Macular hypoplasia, Throm... OMIM:147791
Epidermolysis Bullosa Junctionalis With Pyloric Atresia
Axillary pterygium, Congenital pyloric atresia, Esophageal atresia OMIM:226730
Oculo-Palato-Cerebral Syndrome
High, narrow palate, Cleft palate, Retinal detachment, Cataract, Remnants of the hyaloid vascular... ORPHA:2714
Dyskeratosis Congenita, X-Linked
Optic atrophy, Pterygium, Leukopenia, Anemia, Acute myeloid leukemia, Esophageal stricture, Catar... OMIM:305000
Microgastria-Limb Reduction Defects Association
Microgastria, Aganglionic megacolon, Asplenia, Splenogonadal fusion, Intestinal malrotation, Gast... OMIM:156810
Reynolds Syndrome
Keratoconjunctivitis sicca, Dysphagia, Abnormal gastric mucosa morphology, Xerostomia, Gastroesop... ORPHA:779
Tubulointerstitial Nephritis And Uveitis Syndrome
Reduced hematocrit, Abnormality of retinal pigmentation, Normocytic anemia, Choroidal neovascular... ORPHA:91500
Lead Poisoning
Abnormal T cell morphology, Imbalanced hemoglobin synthesis, Anemia ORPHA:330015
Bleeding Disorder, Platelet-Type, 20
Thrombocytopenia OMIM:616913
Blau Syndrome
Abnormal salivary gland morphology, Abnormality of the optic nerve, Retrobulbar optic neuritis, X... ORPHA:90340
Cornelia De Lange Syndrome 1
Pyloric stenosis, Optic atrophy, High, narrow palate, Cleft palate, High palate, Thrombocytopenia... OMIM:122470
Hardikar Syndrome
Bilateral cleft lip and palate, Esophageal varix, Celiac disease, Cleft soft palate, Gastric vari... OMIM:301068
Congenital Tracheal Stenosis
Meckel diverticulum, Duodenal atresia, Morphological abnormality of the gastrointestinal tract, D... ORPHA:141127
Metachromatic Leukodystrophy
Abnormal duodenum morphology, Intussusception, Neoplasm of the gallbladder, Abnormal stomach morp... ORPHA:512
Jacobsen Syndrome
Pyloric stenosis, Duodenal atresia, Ectopic anus, Abnormality of the anus, Intestinal malrotation... ORPHA:2308
Linear Skin Defects With Multiple Congenital Anomalies 1
Sclerocornea, Iris coloboma, Anal atresia, Cataract, Pigmentary retinopathy, Anteriorly placed anus OMIM:309801
Dubin-Johnson Syndrome
Abnormal gastric mucosa morphology ORPHA:234
Harrod Syndrome
Pyloric stenosis, High, narrow palate, Aganglionic megacolon, High palate, Malrotation of small b... OMIM:601095
Autosomal Dominant Optic Atrophy And Cataract
Optic atrophy, Cerulean cataract, Posterior subcapsular cataract, Anterior subcapsular cataract, ... ORPHA:67036
Esophageal Atresia
Pyloric stenosis, Dysphagia, Cleft palate, Duodenal atresia, Morphological abnormality of the gas... ORPHA:1199
Junctional Epidermolysis Bullosa With Pyloric Atresia
Intestinal atresia, Congenital pyloric atresia, Pterygium ORPHA:79403
Viss Syndrome
High, narrow palate, Dysphagia, High palate, Malposition of the stomach, Celiac disease, Macroglo... OMIM:619472
Eisenmenger Syndrome
Iron deficiency anemia, Increased mean corpuscular volume, Hypochromic microcytic anemia ORPHA:97214
Williams Syndrome
Blue irides, Retinal arteriolar tortuosity, Flat cornea, Rectal prolapse, Posterior embryotoxon, ... ORPHA:904
Mowat-Wilson Syndrome
Pyloric stenosis, Cleft palate, Chorioretinal coloboma, Aganglionic megacolon, Abnormality of ent... OMIM:235730
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Gastric hypertrophy, Gastric ulcer OMIM:161700
Epidermolysis Bullosa Simplex With Pyloric Atresia
Congenital pyloric atresia ORPHA:158684
Microphthalmia, Syndromic 1
Pyloric stenosis, High, narrow palate, Rectal prolapse, Chorioretinal coloboma, High palate, Agan... OMIM:309800

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 Slfn14

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 Slfn14.

No publications found that use IMPC mice or data for Slfn14.

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MGI Allele Allele Type Produced
Slfn14em1(IMPC)Tcp Inter-exon deletion Mice

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