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Gene: Slc26a9 MGI:2444594

Gene Summary

Name:

solute carrier family 26, member 9

Synonyms:

anion transporter/exchanger-9, E030002L01Rik

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	Allele	Zyg	Life Stage	P Value
preweaning lethality, incomplete penetrance	Slc26a9^em1(IMPC)Mbp	HOM	Early adult	0.00
hemorrhage	Slc26a9^em1(IMPC)Mbp	HOM	E18.5	0.00
abnormal kidney morphology	Slc26a9^em1(IMPC)Mbp	HET	Early adult	0.00
enlarged spleen	Slc26a9^em1(IMPC)Mbp	HET	Early adult	0.00
corneal opacity	Slc26a9^em1(IMPC)Mbp	HET	Early adult	9.56×10^-07
abnormal spleen morphology	Slc26a9^em1(IMPC)Mbp	HET	Early adult	0.00
enlarged kidney	Slc26a9^em1(IMPC)Mbp	HET	Early adult	0.00
no spontaneous movement	Slc26a9^em1(IMPC)Mbp	HET	E18.5	0.00
abnormal blood vessel morphology	Slc26a9^em1(IMPC)Mbp	HOM	E18.5	0.00
no spontaneous movement	Slc26a9^em1(IMPC)Mbp	HOM	E18.5	0.00

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

80 Images

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X-ray

XRay Images Whole Body Lateral Orientation

40 Images

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MicroCT E18.5

Embryo reconstruction

8 Images

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Gross Morphology Embryo E18.5

Images

2 Images

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Human diseases caused by Slc26a9 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 Slc26a9 (1 diseases)
Human diseases predicted to be associated with Slc26a9 (602 diseases)

The table below shows human diseases associated to Slc26a9 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Cystic Fibrosis		Steatorrhea, Rectal prolapse, Gastroesophageal reflux, Meconium ileus, Exocrine pancreatic insuff...	ORPHA:586

The table below shows human diseases predicted to be associated to Slc26a9 by phenotypic similarity.

Disease	Matching phenotypes	Source
Polyposis of gastric fundus without polyposis coli	Abnormal gastric mucosa morphology, Multiple gastric polyps	OMIM:175505
Polycystic Kidney Disease 5	Enlarged kidney, Polycystic kidney dysplasia, Hepatosplenomegaly, Hyperechogenic kidneys, Reduced...	OMIM:617610
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Cataract, 3-Methylglutaconic aciduria, Splenomegaly	OMIM:619813
Cephalin Lipidosis	Abnormality of the spleen	OMIM:212800
Hepatorenocardiac Degenerative Fibrosis	Cirrhosis, Jaundice, Enlarged kidney, Tubular luminal dilatation, Hepatocellular carcinoma, Renal...	OMIM:619902
Corneal Dystrophy, Endothelial, X-Linked	Band keratopathy, Corneal dystrophy, Corneal opacity	OMIM:300779
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Enlarged kidney, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Leukopenia, Extramedullary...	OMIM:615285
Corneal Dystrophy, Posterior Polymorphous, 2	Corneal dystrophy, Corneal opacity	OMIM:609140
Ménétrier Disease	Gastrointestinal hemorrhage, Gastroesophageal reflux, Stomach cancer, Giant hypertrophic gastriti...	ORPHA:2494
Nk-Cell Enteropathy	Duodenal ulcer, Gastroesophageal reflux, Diarrhea, Abnormal gastric mucosa morphology, Constipati...	ORPHA:263665
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Splenomegaly	ORPHA:2274
Oculogastrointestinal Muscular Dystrophy	Abnormality of the gastrointestinal tract, Gastroparesis, Intestinal pseudo-obstruction, Abnormal...	ORPHA:1876
Congenital Megacalycosis	Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph...	ORPHA:93109
Immunodeficiency, Common Variable, 6	Enlarged kidney, Hepatomegaly, Nephrotic range proteinuria, Abnormal T cell count, Mesangial Immu...	OMIM:613496
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microcornea, Hepatomegaly, Corneal opacity	ORPHA:2432
Cataract-Microcornea Syndrome	Microcornea, Corneal dystrophy, Corneal opacity, Cataract, Iris coloboma	ORPHA:1377
Diffuse Gastric And Lobular Breast Cancer Syndrome	Cleft palate, Atrophic gastritis, Stomach cancer	OMIM:137215
Inflammatory Bowel Disease (Crohn Disease) 30	Protein-losing enteropathy, Gastritis, Pancolitis, Chronic diarrhea, Abnormal intestine morpholog...	OMIM:619079
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Corneal Dystrophy-Perceptive Deafness Syndrome	Corneal dystrophy, Corneal opacity	ORPHA:1490
Dermoids Of Cornea	Corneal opacity	OMIM:304730
Nephronophthisis 16	Enlarged kidney, Nephronophthisis, Periportal fibrosis, Polycystic kidney dysplasia, Cholestasis,...	OMIM:615382
Bilateral Striopallidodentate Calcinosis	Abnormality of the liver, Corneal opacity, Hepatomegaly, Thrombocytopenia	ORPHA:1980
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of	Absence of intrinsic factor	OMIM:243320
Glaucoma 3, Primary Congenital, D	Primary congenital glaucoma, Ectopia lentis, Corneal opacity	OMIM:613086
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia	OMIM:206400
Pyloric Atresia	Congenital pyloric atresia	OMIM:265950
Corneal Dystrophy, Groenouw Type I	Cataract, Nodular corneal dystrophy, Granular corneal dystrophy, Punctate corneal dystrophy	OMIM:121900
Dubin-Johnson Syndrome	Abnormal gastric mucosa morphology	ORPHA:234
Neutrophilia, Hereditary	Neutrophilia, Splenomegaly	OMIM:162830
Nephronophthisis 3	Polyuria, Enlarged kidney, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Enuresis, Re...	OMIM:604387
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome	Corneal dystrophy, Corneal opacity	ORPHA:3177
Fish-Eye Disease	Splenomegaly, Hepatomegaly, Corneal opacity, Lymphadenopathy	ORPHA:79292
Hemoglobin H Disease	HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia	OMIM:613978
Pyloric Stenosis, Infantile Hypertrophic, 1	Pyloric stenosis, Projectile vomiting	OMIM:179010
Lattice Corneal Dystrophy Type I	Recurrent corneal erosions, Astigmatism, Central posterior corneal opacity, Central opacification...	ORPHA:98964
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Pancytopenia	OMIM:183350
Thiel-Behnke Corneal Dystrophy	Recurrent corneal erosions, Astigmatism, Subepithelial corneal opacities, Central corneal dystrop...	ORPHA:98960
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Enlarged kidney, Hepatomegaly, Periportal fibrosis, Tubulointerstitial fibrosis, Polycystic kidne...	OMIM:263200
Aa Amyloidosis	Acute kidney injury, Enlarged kidney, Hepatomegaly, Abnormality of the kidney, Cholestasis, Nephr...	ORPHA:85445
Nephronophthisis 19	Hepatomegaly, Nephronophthisis, Cholestasis, Bile duct proliferation, Hyperechogenic kidneys, Spl...	OMIM:616217
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis	OMIM:118830
Anterior Segment Dysgenesis 8	Microphakia, Iris transillumination defect, Iridodonesis, Corneal stromal edema, Corneal opacity,...	OMIM:617319
Cataract 21, Multiple Types	Microcornea, Corneal opacity, Cortical pulverulent cataract, Peters anomaly, Cerulean cataract, I...	OMIM:610202
Galactose Epimerase Deficiency	Jaundice, Hepatomegaly, Splenomegaly, Cataract, Aminoaciduria	ORPHA:79238
Central Cloudy Dystrophy Of Francois	Corneal dystrophy, Central corneal dystrophy	OMIM:217600
Schnyder Corneal Dystrophy	Corneal dystrophy, Crystalline corneal dystrophy	OMIM:121800
Renal Dysplasia	Pelvic mass, Enlarged kidney, Urinary incontinence, Renal hypoplasia/aplasia, Abnormal nephron mo...	ORPHA:93108
Galactosialidosis	Corneal opacity	ORPHA:351
Cap Polyposis	Colorectal polyposis, Diarrhea, Constipation, Hematochezia, Atrophic gastritis	ORPHA:160148
Keratitis, Hereditary	Opacification of the corneal stroma, Keratitis	OMIM:148190
Mucous Membrane Pemphigoid	Corneal opacity	ORPHA:46486
Morquio Syndrome C	Corneal opacity	OMIM:252300
X-Linked Corneal Dermoid	Corneal opacity, Abnormal pupil morphology	ORPHA:1661
Macular Dystrophy, Corneal	Recurrent corneal erosions, Corneal dystrophy, Punctate opacification of the cornea	OMIM:217800
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:52416
Renal-Hepatic-Pancreatic Dysplasia 1	Enlarged kidney, Hyperechogenic pancreas, Cholestasis, Biliary cirrhosis, Splenomegaly, Stage 5 c...	OMIM:208540
Persistent Polyclonal B-Cell Lymphocytosis	Lymphocytosis, Hepatomegaly, Splenomegaly	OMIM:606445
Immunodeficiency 16	Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia	OMIM:615593
Gastritis, Familial Giant Hypertrophic	Giant hypertrophic gastritis	OMIM:137280
Tyrosinemia Type 1	Splenomegaly, Hepatomegaly, Hepatocellular carcinoma, Generalized aminoaciduria	ORPHA:882
Nephronophthisis 2	Chronic tubulointerstitial nephritis, Enlarged kidney, Nephronophthisis, Renal cortical microcyst...	OMIM:602088
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E...	OMIM:603902
Proteasome-Associated Autoinflammatory Syndrome 5	Hepatomegaly, Splenomegaly	OMIM:619175
Cornea Plana 2, Autosomal Recessive	Corneal arcus, Decreased corneal thickness, Corneal opacity, Sclerocornea, Flat cornea	OMIM:217300
Corneal Dystrophy, Fuchs Endothelial, 3	Corneal stromal edema, Corneal opacity, Corneal guttata	OMIM:613267
Reynolds Syndrome	Abnormal gastric mucosa morphology, Dysphagia, Xerostomia, Gastroesophageal reflux	ORPHA:779
Ring Dermoid Of Cornea	Abnormal cornea morphology, Abnormal corneal limbus morphology, Corneal astigmatism, Abnormal con...	OMIM:180550
Chronic Intestinal Pseudoobstruction	Pyloric stenosis, Intestinal malrotation, Abnormal intestine morphology	ORPHA:2978
Spinocerebellar Degeneration And Corneal Dystrophy	Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma	OMIM:271310
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach	Fundic gland polyposis, Melena, Gastric adenocarcinoma	OMIM:619182
Hurler-Scheie Syndrome	Abnormality of the tonsils, Hepatomegaly, Corneal opacity, Splenomegaly	ORPHA:93476
Amyloidosis, Familial Visceral	Hepatomegaly, Hematuria, Cholestasis, Nephrotic syndrome, Splenomegaly, Proteinuria, Renal amyloi...	OMIM:105200
Trimethylaminuria	Trimethylaminuria, Anemia, Splenomegaly, Neutropenia	OMIM:602079
Anterior Segment Dysgenesis 7	Ocular anterior segment dysgenesis, Microcornea, Corneal opacity, Sclerocornea, Cataract, Buphtha...	OMIM:269400
Erythroleukemia, Familial, Susceptibility To	Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplas...	OMIM:133180
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Renal-Hepatic-Pancreatic Dysplasia 2	Enlarged kidney, Hepatomegaly, Cholestasis, Asplenia, Hepatic cysts, Hepatic fibrosis, Malformati...	OMIM:615415
Corneal Dystrophy, Reis-Bucklers Type	Opacification of the corneal stroma, Corneal dystrophy, Corneal opacity, Corneal erosion	OMIM:608470
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:231393
Hyperbilirubinemia, Shunt, Primary	Jaundice, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Splenomegaly, Erythroid...	OMIM:237800
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Hematuria, Corneal opacity, Posterior embryotoxon, Cataract, Iris coloboma	ORPHA:1473
Hemoglobin D Disease	Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ...	ORPHA:90039
Autosomal Dominant Polycystic Kidney Disease	Enlarged kidney, Hematuria, Decreased glomerular filtration rate, Calcium oxalate nephrolithiasis...	ORPHA:730
Sialidosis Type 2	Hepatomegaly, Corneal opacity, Ascites, Splenomegaly, Nephropathy	ORPHA:87876
X-Linked Endothelial Corneal Dystrophy	Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy	ORPHA:293621
Corneal Dystrophy And Perceptive Deafness	Opacification of the corneal stroma, Corneal dystrophy	OMIM:217400
Corneal Dystrophy, Posterior Polymorphous, 1	Abnormal corneal endothelium morphology, Band keratopathy, Iris atrophy, Corneal opacity, Abnorma...	OMIM:122000
Meckel Syndrome, Type 8	Polycystic kidney dysplasia, Enlarged kidney, Hyperechogenic kidneys	OMIM:613885
Winchester Syndrome	Corneal opacity	OMIM:277950
Red Cell Phospholipid Defect With Hemolysis	Intermittent jaundice, Splenomegaly, Reticulocytosis	OMIM:179700
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Cataract, Aplasia/Hypoplasia of the iris, Corneal opacity, Persistent pupillary membrane	ORPHA:1067
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Fetal ascites, Hepatomegaly, Splenomegaly	OMIM:619462
Lcat Deficiency	Acute kidney injury, Decreased glomerular filtration rate, Corneal opacity, Proteinuria, Stage 5 ...	ORPHA:650
Encephalopathy Due To Prosaposin Deficiency	Hepatomegaly, Splenomegaly	ORPHA:139406
Mu-Heavy Chain Disease	Hepatomegaly, Anemia, Lymphadenopathy, Bence Jones Proteinuria, Splenomegaly, Abnormal B cell cou...	ORPHA:100024
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune thrombocytope...	ORPHA:444463
Serrated Polyposis Syndrome	Ovarian neoplasm, Pancreatic adenocarcinoma, Gastric diverticulum, Colorectal polyposis, Biliary ...	ORPHA:157798
Granular Corneal Dystrophy Type Ii	Recurrent corneal erosions, Granular corneal dystrophy, Central opacification of the cornea, Sube...	ORPHA:98963
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Splenomegaly, Microcytic anemia	OMIM:618852
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Nephroblastoma, Enlarged kidney	OMIM:618272
Immunodeficiency 57 With Autoinflammation	Diarrhea, Perianal abscess, Gastritis, Inflammation of the large intestine	OMIM:618108
Galactosemia Iii	Jaundice, Hepatomegaly, Galactosuria, Splenomegaly, Aminoaciduria	OMIM:230350
Congenital Hereditary Endothelial Dystrophy Type Ii	Corneal stromal edema, Corneal opacity, Abnormal Descemet membrane morphology, Increased corneal ...	ORPHA:293603
Neonatal Severe Primary Hyperparathyroidism	Aminoaciduria, Hepatomegaly, Splenomegaly	ORPHA:417
Kaposiform Lymphangiomatosis	Enlarged kidney, Anemia, Abnormality of the lymphatic system, Abnormal spleen morphology, Abnorma...	ORPHA:464329
Immunodeficiency 104	Splenomegaly, Hepatomegaly, Lymphadenopathy, T lymphocytopenia	OMIM:608971
Corneal Endothelial Dystrophy	Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat...	OMIM:217700
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Enlarged kidney, Enlarged polycystic ovaries	ORPHA:90301
Congenital Rubella Syndrome	Jaundice, Anemia, Hepatomegaly, Corneal opacity, Thrombocytopenia, Splenomegaly, Cataract, Aplasi...	ORPHA:290
Peters Anomaly	Developmental glaucoma, Central opacification of the cornea, Subcapsular cataract, Thinning of De...	ORPHA:708
Anterior Segment Dysgenesis 6	Corneal neovascularization, Developmental glaucoma, Corneal opacity, Abnormal Descemet membrane m...	OMIM:617315
Familial Pterygium Of The Conjunctiva	Opacification of the corneal stroma	ORPHA:2989
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Splenomegaly, Portal hypertension	OMIM:610293
Congenital Anomalies Of Kidney And Urinary Tract 3	Ectopic kidney, Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis, Multicystic kidney dyspl...	OMIM:618270
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Splenomegaly, Portal hypertension	OMIM:617068
Stickler Syndrome Type 2	Cataract, Corneal opacity	ORPHA:90654
Limbal Stem Cell Deficiency	Opacification of the corneal epithelium, Corneal neovascularization, Cornea verticillata, Corneal...	ORPHA:171673
Mucopolysaccharidosis-Plus Syndrome	Enlarged kidney, Hepatomegaly, Macrovesicular hepatic steatosis, Anemia, Focal segmental glomerul...	OMIM:617303
Anterior Segment Dysgenesis 2	Aniridia, Microcornea, Corneal opacity, Congenital aphakia, Anterior segment of eye aplasia, Scle...	OMIM:610256
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Corneal opacity, Developmental cataract, Micropenis, Hypospadias	OMIM:618815
Syndromic Recessive X-Linked Ichthyosis	Acute leukemia, Corneal opacity, Renal insufficiency, Unilateral renal agenesis	ORPHA:281090
Megalocornea	Corneal arcus, Iris transillumination defect, Iridodonesis, Astigmatism, Mosaic corneal dystrophy...	OMIM:309300
Hypereosinophilic Syndrome, Idiopathic	Eosinophilia, Hepatomegaly, Myeloproliferative disorder, Splenomegaly	OMIM:607685
Mast Cell Sarcoma	Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Splenomegaly	ORPHA:66661
Immunodeficiency 84	B lymphocytopenia, Splenomegaly	OMIM:619437
Immunodeficiency 42	Splenomegaly, Hepatomegaly, Hypoplasia of the thymus	OMIM:616622
Sea-Blue Histiocyte Disease	Cirrhosis, Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly	OMIM:269600
Hypertriglyceridemia, Transient Infantile	Hepatic fibrosis, Hepatomegaly, Hepatic steatosis, Splenomegaly	OMIM:614480
Corneal Dystrophy, Fuchs Endothelial, 1	Corneal degeneration, Corneal stromal edema, Corneal dystrophy, Descemet Membrane Folds, Corneal ...	OMIM:136800
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Anemia, Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Renal hypoplasia, Renal ...	OMIM:613092
Cholestasis, Progressive Familial Intrahepatic, 12	Jaundice, Hepatomegaly, Cholestasis, Proteinuria, Splenomegaly	OMIM:620010
Splenoportal Vascular Anomalies	Cirrhosis, Anomalous splenoportal venous system, Ascites, Splenomegaly, Hepatic fibrosis	OMIM:271500
Glycogen Storage Disease Ib	Enlarged kidney, Hepatomegaly, Pancreatitis, Decreased glomerular filtration rate, Hepatocellular...	OMIM:232220
Granular Corneal Dystrophy Type I	Recurrent corneal erosions, Abnormal corneal epithelium morphology, Central opacification of the ...	ORPHA:98962
Lecithin:Cholesterol Acyltransferase Deficiency	Corneal arcus, Normochromic anemia, Proteinuria, Renal insufficiency, Hemolytic anemia	OMIM:245900
Anemia, Congenital Dyserythropoietic, Type Ii	Jaundice, Cholelithiasis, Anemia of inadequate production, Reticulocytosis, Splenomegaly	OMIM:224100
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Jaundice, Hemophagocytosis, Anemia, Lymphadenopathy, Thrombocytopenia, Splenomegaly...	OMIM:603552
Keratoendotheliitis Fugax Hereditaria	Conjunctival hyperemia, Opacification of the corneal stroma, Keratitis	OMIM:148200
Multicystic Dysplastic Kidney	Enlarged kidney, Unilateral renal agenesis, Ureterovesical junction obstruction, Vesicoureteral r...	ORPHA:1851
Microphthalmia, Isolated 2	Opacification of the corneal stroma	OMIM:610093
Anterior Segment Dysgenesis 5	Microcornea, Hypoplasia of the iris, Rieger anomaly, Posterior embryotoxon, Developmental catarac...	OMIM:604229
Macular Corneal Dystrophy	Recurrent corneal erosions, Decreased corneal thickness, Punctate opacification of the cornea, Hy...	ORPHA:98969
Fuchs Endothelial Corneal Dystrophy	Abnormal Descemet membrane morphology, Abnormal corneal endothelium morphology, Reduced number of...	ORPHA:98974
Acrocephalopolydactylous Dysplasia	Enlarged kidney, Hepatomegaly, Cystic renal dysplasia, Ascites, Hepatic fibrosis, Pancreatic fibr...	OMIM:200995
Alpha-1-Antitrypsin Deficiency	Gastric varix, Hepatocellular carcinoma	OMIM:613490
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Enlarged kidney, Hepatomegaly, Macrovesicular hepatic steatosis, Ureteral duplication, Long-chain...	OMIM:608836
Gómez-López-Hernández Syndrome	Corneal opacity	ORPHA:1532
Esophageal Ring, Lower	Dysphagia, Hiatus hernia	OMIM:133240
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Renal hypoplasia/aplasia, Anemia, Hypospadias, Hypoplasia of penis, Ascites, Abnormality of the u...	ORPHA:1046
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R...	ORPHA:251380
Scheie Syndrome	Mucopolysacchariduria, Hepatomegaly, Corneal opacity, Splenomegaly	ORPHA:93474
Erythrocytosis, Familial, 8	Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo...	OMIM:222800
Nephronophthisis 13	Nephronophthisis, Glomerular sclerosis, Multilamellation of medullary peritubular capillary basem...	OMIM:614377
Autosomal Recessive Polycystic Kidney Disease	Enlarged kidney, Cholestasis, Ascites, Biliary hyperplasia, Splenomegaly, Oliguria, Abnormal intr...	ORPHA:731
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Abnormal T cell morphology, Nephrotic syndrome, Mucopolysacchariduria, Macronodular cirrhosis, Pr...	OMIM:215250
Mucolipidosis Iv	Opacification of the corneal stroma, Corneal opacity, Abnormal abdomen morphology	OMIM:252650
Corneal Dystrophy, Meesmann, 1	Punctate opacification of the cornea, Corneal dystrophy	OMIM:122100
Tyrosinemia, Type I	Elevated urinary delta-aminolevulinic acid, Cirrhosis, Hepatomegaly, Anemia, Enlarged kidney, Glo...	OMIM:276700
Multicentric Carpotarsal Osteolysis Syndrome	Corneal opacity, Proteinuria, Bilateral renal atrophy, Stage 5 chronic kidney disease, Renal insu...	OMIM:166300
Immunodeficiency 69	Anemia, Hemophagocytosis, Pancytopenia, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Thrombocy...	OMIM:618963
Epithelial Recurrent Erosion Dystrophy	Recurrent corneal erosions, Corneal dystrophy, Subepithelial corneal opacities, Corneal scarring,...	ORPHA:293381
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets	Duodenal ulcer, Esophageal ulceration, Gastric ulcer	OMIM:618372
Wolman Disease	Hepatomegaly, Splenomegaly	OMIM:620151
Posterior Polymorphous Corneal Dystrophy	Astigmatism, Corneal stromal edema, Corneal opacity, Abnormal Descemet membrane morphology, Incre...	ORPHA:98973
Ras-Associated Autoimmune Leukoproliferative Disorder	Hepatomegaly, Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocyto...	OMIM:614470
Coproporphyria, Hereditary	Elevated urinary delta-aminolevulinic acid, Jaundice, Hepatomegaly, Increased urinary porphobilin...	OMIM:121300
Alpha-Mannosidosis	Cataract, Hepatomegaly, Corneal opacity, Splenomegaly	ORPHA:61
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:86893
Immunodeficiency, Common Variable, 12, With Autoimmunity	Atrophic gastritis	OMIM:616576
H Syndrome	Corneal arcus, Abnormality of the kidney, Enlarged kidney, Lymphadenopathy, Hepatosplenomegaly, M...	ORPHA:168569
Autosomal Dominant Keratitis	Corneal neovascularization, Aniridia, Limbal stem cell deficiency, Microcornea, Abnormal corneal ...	ORPHA:2334
Diaphanospondylodysostosis	Enlarged kidney, Abnormal liver lobulation, Nephroblastomatosis, Nephrogenic rest, Horseshoe kidn...	OMIM:608022
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Corneal opacity	ORPHA:2370
Alpha-Heavy Chain Disease	Hepatomegaly, Anemia, Lymphadenopathy, Ascites, Splenomegaly	ORPHA:100025
Brittle Cornea Syndrome 2	Keratoglobus, Keratoconus, Decreased corneal thickness, Megalocornea, Sclerocornea, Flat cornea, ...	OMIM:614170
Immunodeficiency 76	Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Splenomegaly, Lymphopenia	OMIM:619164
Autoimmune Lymphoproliferative Syndrome, Type Iii	Autoimmune hemolytic anemia, Stage 5 chronic kidney disease, Hepatomegaly, Mediastinal lymphadeno...	OMIM:615559
B-Cell Expansion With Nfkb And T-Cell Anergy	Increased B cell count, Splenomegaly	OMIM:616452
Glycogen Storage Disease Ia	Enlarged kidney, Hepatomegaly, Pancreatitis, Decreased glomerular filtration rate, Hepatocellular...	OMIM:232200
Galactosialidosis	Conjunctival telangiectasia, Opacification of the corneal stroma, Visceromegaly, Hepatosplenomegaly	OMIM:256540
Anemia, Congenital Dyserythropoietic, Type Ib	Jaundice, Anemia, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Poikilocytosis,...	OMIM:615631
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased proportion of t...	OMIM:615513
Intrinsic Factor Deficiency	Absence of intrinsic factor	OMIM:261000
Spherocytosis, Type 5	Jaundice, Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia...	OMIM:612690
Gray Platelet Syndrome	Thrombocytopenia, Splenomegaly	ORPHA:721
Sialidosis Type 1	Increased urinary O-linked sialopeptides, Corneal opacity, Urinary excretion of sialylated oligos...	ORPHA:812
Congenital Bile Acid Synthesis Defect Type 1	Cirrhosis, Jaundice, Hepatomegaly, Biliary tract abnormality, Splenomegaly, Neonatal cholestatic ...	ORPHA:79301
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Anterior Segment Dysgenesis 1	Ocular anterior segment dysgenesis, Microcornea, Posterior polar cataract, Opacification of the c...	OMIM:107250
Mucolipidosis Type Iii	Corneal opacity	ORPHA:577
Alpha-Mannosidosis, Adult Form	Pancytopenia, Corneal opacity, Hepatosplenomegaly, Cataract, Oligosacchariduria	ORPHA:309288
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Cirrhosis, Jaundice, Anemia, Hepatomegaly, Hypochromia, Elevated hepatic iron concentration, Anis...	OMIM:616860
Hemoglobin E Disease	Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H...	ORPHA:2133
Harderoporphyria	Hepatomegaly, Increased urine harderoporphyrin level, Increased urinary porphobilinogen, Red urin...	OMIM:618892
Ghosal Hematodiaphyseal Dysplasia	Anemia, Splenomegaly	ORPHA:1802
Thrombocythemia 1	Thrombocytosis, Splenomegaly	OMIM:187950
Immunodeficiency 52	Lymphadenopathy, Abnormal natural killer cell count, T lymphocytopenia, Splenomegaly, Abnormal B ...	OMIM:617514
Lymphoid Interstitial Pneumonia	Enlarged kidney, Hepatomegaly, Mediastinal lymphadenopathy, Keratoconjunctivitis sicca	ORPHA:79128
Igg4-Related Kidney Disease	Enlarged kidney, Sclerosing cholangitis, Cholecystitis, Urinary bladder inflammation, Acute kidne...	ORPHA:449395
Paternal Uniparental Disomy Of Chromosome 1	Enlarged kidney, Episodic hemolytic anemia, Proteinuria, Macroscopic hematuria, Membranoprolifera...	ORPHA:251004
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia	ORPHA:231401
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome	Diarrhea, Gastritis	ORPHA:2575
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia	Esophageal stenosis, Congenital pyloric atresia	OMIM:619817
Follicular Lymphoma	Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Abnormal peritoneum morphology	ORPHA:545
Gm1-Gangliosidosis, Type Iii	Opacification of the corneal stroma, Hepatomegaly, Splenomegaly	OMIM:230650
Immunodeficiency 48	Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Splenomegaly, Abnormal ...	OMIM:269840
Niemann-Pick Disease, Type B	Sea-blue histiocytosis, Anemia, Hepatomegaly, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly	OMIM:607616
Progressive Familial Intrahepatic Cholestasis	Jaundice, Cholestasis, Splenomegaly, Hepatomegaly	ORPHA:172
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Splenomegal...	OMIM:619375
Brachyolmia Type 1, Hobaek Type	Opacification of the corneal stroma, Corneal opacity	OMIM:271530
Cholestasis, Progressive Familial Intrahepatic, 9	Jaundice, Intrahepatic cholestasis, Hepatomegaly, Fibro-obliterative bile-duct lesion, Portal hyp...	OMIM:619849
Multiple Sulfatase Deficiency	Hepatomegaly, Corneal opacity, Mucopolysacchariduria, Splenomegaly, Cataract	ORPHA:585
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Jaundice, Cholestasis, Hepatic bridging fibrosis, Splenomegaly, Hepatic fibrosis	OMIM:619658
Amoebic Keratitis	Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal ulceration,...	ORPHA:67043
Mevalonic Aciduria	Cataract, Splenomegaly	ORPHA:29
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Enlarged kidney, Hydronephrosis, Urethral atresia	OMIM:314390
Juvenile Sialidosis Type 2	Abnormality of the kidney, Hepatomegaly, Visceromegaly, Corneal opacity, Hepatosplenomegaly, Cata...	ORPHA:93399
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Developmental glaucoma, Corneal opacity, Unilateral renal agenesis, Aniridia	ORPHA:1064
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Hepatomegaly, Abnormality of the urinary system, Splenomegaly	ORPHA:2204
Ornithine Transcarbamylase Deficiency	Aminoaciduria, Splenomegaly	ORPHA:664
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Jaundice, Hepatomegaly, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Conj...	OMIM:194380
Hemochromatosis, Type 2B	Cirrhosis, Hepatomegaly, Anemia, Splenomegaly, Hepatic fibrosis	OMIM:613313
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Neonatal cholestatic liver disease, Splenomegaly	OMIM:214900
Rutherfurd Syndrome	Opacification of the corneal stroma, Corneal dystrophy	OMIM:180900
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Abnormality of the lymphatic system, Portal hypertension, Abno...	ORPHA:1414
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil...	ORPHA:766
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Anemia, Lymphadenopathy, Hemophagocytosis, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly	OMIM:613101
Hurler-Scheie Syndrome	Hepatomegaly, Corneal opacity, Dermatan sulfate excretion in urine, Splenomegaly, Heparan sulfate...	OMIM:607015
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Enlarged kidney, Anemia, Nephrotic syndrome, Bone marrow hypocellularity, Conjunctivitis, Thrombo...	ORPHA:505248
Wilson Disease	Cirrhosis, Jaundice, Hepatomegaly, Anemia, Acute hepatitis, Kayser-Fleischer ring, Hepatitis, Thr...	ORPHA:905
Thrombocytopenia, Anemia, And Myelofibrosis	Anisopoikilocytosis, Thrombocytopenia, Anemia, Splenomegaly	OMIM:617441
Griscelli Syndrome Type 2	Jaundice, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Iris hypopigmentation, S...	ORPHA:79477
Bile Acid Synthesis Defect, Congenital, 5	Jaundice, Portal fibrosis, Iron deficiency anemia, Hepatomegaly, Portal hypertension, Splenomegal...	OMIM:616278
Erythrokeratodermia Variabilis	Cataract, Corneal opacity	ORPHA:317
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemi...	ORPHA:75564
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Jaundice, Normochromic anemia, Cholelithiasis, Nonspherocytic hemolytic anemia...	OMIM:235700
Fish-Eye Disease	Opacification of the corneal stroma	OMIM:136120
Denys-Drash Syndrome	Enlarged kidney, Focal segmental glomerulosclerosis, Nephrotic syndrome, Diffuse mesangial sclero...	OMIM:194080
Cholestasis, Progressive Familial Intrahepatic, 10	Jaundice, Portal fibrosis, Hepatomegaly, Splenomegaly, Acholic stools	OMIM:619868
Cystinosis	Nephropathy, Corneal opacity, Portal hypertension, Proteinuria, Renal insufficiency, Aminoaciduri...	ORPHA:213
Dehydrated Hereditary Stomatocytosis 2	Anisopoikilocytosis, Jaundice, Hepatomegaly, Increased mean corpuscular hemoglobin concentration,...	OMIM:616689
Immunodeficiency 64 With Lymphoproliferation	Autoimmune hemolytic anemia, Cervical lymphadenopathy, Mediastinal lymphadenopathy, Lymphadenopat...	OMIM:618534
Corneal Dystrophy, Thiel-Behnke Type	Juvenile epithelial corneal dystrophy, Corneal dystrophy, Corneal scarring	OMIM:602082
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Acute myelomonocytic leukemia, Hypopl...	ORPHA:2585
Dyschondrosteosis-Nephritis Syndrome	Corneal opacity, Hematuria, Proteinuria, Nephropathy	ORPHA:1765
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Cirrhosis, Hepatomegaly, Prolonged neonatal jaundice, Copper accumulat...	OMIM:616828
Neuraminidase Deficiency	Hepatomegaly, Vacuolated lymphocytes, Bone-marrow foam cells, Ascites, Cataract, Urinary excretio...	OMIM:256550
Arteriosclerosis, Severe Juvenile	Gastric ulcer	OMIM:208060
Hyperparathyroidism, Transient Neonatal	Enlarged kidney, Unilateral renal agenesis, Splenic cyst	OMIM:618188
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Cataract, Corneal opacity, Left ventricular hypertrophy	OMIM:613153
Cryohydrocytosis	Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:185020
Cold Agglutinin Disease	Hepatomegaly, Lymphadenopathy, Splenomegaly, Abnormal urinary color, Hemolytic anemia	ORPHA:56425
Sclerosing Cholangitis, Neonatal	Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Vesic...	OMIM:617394
Congenital Sialidosis Type 2	Abnormality of the kidney, Hepatomegaly, Corneal opacity, Ascites, Developmental cataract, Hepato...	ORPHA:93400
Mucopolysaccharidosis Type 7	Corneal opacity, Ascites, Mucopolysacchariduria, Splenomegaly, Hepatitis	ORPHA:584
Immunodeficiency 27A	Anemia, Thrombocytosis, Lymphadenopathy, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Enlarged...	OMIM:209950
Thrombocytopenia With Beta-Thalassemia, X-Linked	Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni...	OMIM:314050
Zellweger Syndrome	Jaundice, Hepatomegaly, Hypospadias, Corneal opacity, Posterior embryotoxon, Hydronephrosis, Brus...	ORPHA:912
Congenital Anomalies Of Kidney And Urinary Tract 1	Unilateral renal agenesis, Vesicoureteral reflux, Renal hypoplasia, Ureteropelvic junction obstru...	OMIM:610805
Adams-Oliver Syndrome 6	Renal hypoplasia, Hepatic fibrosis, Splenomegaly, Portal hypertension	OMIM:616589
Immunodeficiency, Common Variable, 2	Hepatomegaly, Lymphadenopathy, Abnormal T cell count, Splenomegaly, Conjunctivitis, Follicular hy...	OMIM:240500
Immunodeficiency 109 With Lymphoproliferation	Absent circulating B cells, Generalized lymphadenopathy, Splenomegaly, Pancytopenia	OMIM:620282
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Astigmatism, Myopic astigmatism, Microcornea, Corneal opacity, Cataract	OMIM:152950
Spherocytosis, Type 4	Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:612653
Pfapa Syndrome	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:42642
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Recurrent urinary tract infections, S...	OMIM:618495
Hemihyperplasia-Multiple Lipomatosis Syndrome	Nephroblastoma, Abnormality of the lymphatic system, Enlarged kidney	ORPHA:276280
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Abnormal lymph node morphology, Anemia, Leukocytosis, Hepatosplenomegaly, Splenomeg...	OMIM:612840
X-Linked Sideroblastic Anemia	Anemia, Splenomegaly	ORPHA:75563
Free Sialic Acid Storage Disease	Hepatomegaly, Ascites, Nephrotic syndrome, Iris hypopigmentation, Proteinuria, Splenomegaly	ORPHA:834
Beckwith-Wiedemann Syndrome	Enlarged kidney, Hepatomegaly, Cardiomegaly, Renal cortical cysts, Vesicoureteral reflux, Nephrol...	OMIM:130650
Immunodeficiency, Common Variable, 1	Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, B lymphocyt...	OMIM:607594
Stromme Syndrome	Accessory spleen, Microcornea, Hydronephrosis, Sclerocornea, Bilateral renal hypoplasia, Cataract...	OMIM:243605
Overhydrated Hereditary Stomatocytosis	Decreased mean corpuscular hemoglobin concentration, Intermittent jaundice, Reticulocytosis, Abno...	ORPHA:3203
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Duodenal ulcer, Rectal prolapse, Esophageal food impaction, Gastroesophageal reflux, Diarrhea, In...	OMIM:147060
Mucolipidosis Ii Alpha/Beta	Enlarged kidney, Hepatomegaly, Megalocornea, Mucopolysacchariduria, Splenomegaly, Cardiomegaly, O...	OMIM:252500
Multiple Sulfatase Deficiency	Mucopolysacchariduria, Hepatomegaly, Corneal opacity, Splenomegaly	OMIM:272200
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Hepatomegaly, Astigmatism, Hypospadias, Duplicated collecting system, Vesicoureteral reflux, Corn...	OMIM:301056
Atopic Keratoconjunctivitis	Corneal neovascularization, Corneal opacity, Corneal scarring, Chemosis, Conjunctival hyperemia, ...	ORPHA:163934
Cryoglobulinemic Vasculitis	Glomerulopathy, Hepatomegaly, Mediastinal lymphadenopathy, Hematuria, Viral hepatitis, Splenomega...	ORPHA:91138
Norrie Disease	Buphthalmos, Corneal opacity, Hypoplasia of the iris, Shallow anterior chamber, Leukocoria, Catar...	OMIM:310600
Spherocytosis, Type 1	Jaundice, Cholelithiasis, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:182900
Cholesteryl Ester Storage Disease	Cirrhosis, Jaundice, Splenomegaly, Hepatomegaly	ORPHA:75234
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hepatocellular adenoma, Hepatomegaly, Pancreatitis, Anemia, Enlarged kidney, Increased hepatic gl...	ORPHA:79259
Cholestasis, Progressive Familial Intrahepatic, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Portal fibrosis, Hepatomegaly, Portal inflammation...	OMIM:602347
Schimke Immuno-Osseous Dysplasia	Pancreatitis, Anemia, Abnormal proportion of naive CD4 T cells, Minimal change glomerulonephritis...	ORPHA:1830
Chronic Myeloid Leukemia	Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl...	ORPHA:521
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Hepatocellular carcinoma, Ascites, Portal hypertension, Thrombocytopenia, Splenomeg...	OMIM:619463
Harel-Yoon Syndrome	Developmental cataract, Corneal opacity	OMIM:617183
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Neutropenia in presence of ant...	OMIM:601859
Bronchogenic Cyst	Abnormal stomach morphology, Abnormal esophagus morphology, Dysphagia	ORPHA:2357
Indolent Systemic Mastocytosis	Hepatomegaly, Increased proportion of CD25+ mast cells, Lymphadenopathy, Mastocytosis, Splenomega...	ORPHA:98848
Spherocytosis, Type 2	Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia	OMIM:616649
Glycogen Storage Disease Ixb	Hepatomegaly, Splenomegaly, Increased hepatic glycogen content	OMIM:261750
Elliptocytosis 1	Elliptocytosis, Jaundice, Splenomegaly, Hemolytic anemia	OMIM:611804
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Lymphadenopathy, Neutropenia i...	OMIM:603909
Brachyolmia Type 1, Toledo Type	Increased urinary disaccharide excretion, Opacification of the corneal stroma	OMIM:271630
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Enlarged kidney, Astigmatism, Chronic neutropenia, Cataract, Transient neutropenia, Bifid ureter,...	ORPHA:500095
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope...	ORPHA:231154
Lipodystrophy, Congenital Generalized, Type 3	Hepatic steatosis, Hepatomegaly, Hepatosplenomegaly, Splenomegaly	OMIM:612526
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Diarrhea, Crohn's disease, Atrophic gastritis, Lymphocytic infiltration of the colorectal mucosa	OMIM:616100
Ophthalmomandibulomelic Dysplasia	Corneal opacity, Megalocornea	ORPHA:2741
Sickle Cell Disease	Jaundice, Hepatomegaly, Hematuria, Cholelithiasis, Splenic infarction, Leukocytosis, Target cells...	OMIM:603903
Al-Gazali Syndrome	Sclerocornea, Hydronephrosis, Corneal opacity	OMIM:609465
Sea-Blue Histiocytosis	Sea-blue histiocytosis, Mediastinal lymphadenopathy, Hepatomegaly, Thrombocytopenia, Splenomegaly	ORPHA:158029
Gelatinous Drop-Like Corneal Dystrophy	Conjunctival amyloidosis, Corneal neovascularization, Subepithelial corneal opacities, Central op...	ORPHA:98957
Fucosidosis	Abnormality of the gallbladder, Hepatomegaly, Corneal opacity, Mucopolysacchariduria, Cardiomegaly	ORPHA:349
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Splenomegaly, Pancytopenia	OMIM:614979
Lymphoproliferative Syndrome 2	Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Ascites, Hepatosp...	OMIM:615122
Tangier Disease	Opacification of the corneal stroma, Hepatomegaly, Splenomegaly, Left ventricular hypertrophy	OMIM:205400
Polycythemia Vera	Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro...	OMIM:263300
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Cataract, 3-Methylglutaconic aciduria, Corneal opacity	ORPHA:496790
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Anemia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Elevated hepatic iron co...	OMIM:615234
Familial Dysautonomia	Abnormality of the kidney, Glomerulopathy, Corneal erosion, Abnormal peritoneum morphology, Corne...	ORPHA:1764
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Jaundice, Cholelithiasis, Spontaneous hemolytic crises, Nonspherocytic hemolytic anemia, Impaired...	OMIM:613470
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Microcornea, Corneal opacity, Persistent pupillary membrane, Shallow anterior chamber, Leukocoria...	OMIM:221900
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Lymphadenopathy, B lymphocytopenia, Splenomegaly, Intermittent thrombocytopenia, Abnormal CD4:CD8...	OMIM:150550
Osteopetrosis, Autosomal Recessive 8	Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly	OMIM:615085
Immunodeficiency 7	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Hypereosinophilia, Neut...	OMIM:615387
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Renal dysplasia, Polycystic kidney dysplasia, Enlarged kidney, Micropenis	OMIM:613091
Pseudo-Torch Syndrome 1	Jaundice, Hepatomegaly, Thrombocytopenia, Splenomegaly, Cataract, Opacification of the corneal st...	OMIM:251290
Pyruvate Kinase Deficiency Of Red Cells	Chronic hemolytic anemia, Jaundice, Reduced red cell pyruvate kinase level, Cholelithiasis, Hepat...	OMIM:266200
Congenital Primary Aphakia	Developmental glaucoma, Aniridia, Aplasia/Hypoplasia affecting the anterior segment of the eye, C...	ORPHA:83461
Bartsocas-Papas Syndrome 2	Popliteal pterygium, Axillary pterygium, Antecubital pterygium, Corneal opacity	OMIM:619339
Short Fifth Metacarpals-Insulin Resistance Syndrome	Spherocytosis, Splenomegaly	ORPHA:66518
Hurler Syndrome	Hepatomegaly, Corneal opacity, Dermatan sulfate excretion in urine, Enlarged tonsils, Hepatosplen...	OMIM:607014
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Jaundice, Hepatomegaly, Cholestasis, Portal hypertension, Splenomegaly	ORPHA:59303
Hepatoportal Sclerosis	Abnormal liver parenchyma morphology, Jaundice, Anemia, Periportal fibrosis, Hepatocellular carci...	ORPHA:64743
Beta-Thalassemia	Hepatomegaly, Anemia, Cholelithiasis, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin, Hepati...	ORPHA:848
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development	Opacification of the corneal stroma	OMIM:204850
Microphthalmia/Coloboma 12	Vesicoureteral reflux, Corneal opacity, Peters anomaly	OMIM:120200
Tangier Disease	Anemia, Corneal opacity, Chronic noninfectious lymphadenopathy, Orange discolored tonsils, Thromb...	ORPHA:31150
Tafro Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Ascites, Thrombocytopenia, Splenomegaly, Hep...	ORPHA:457077
Myelofibrosis	Hepatomegaly, Hemophagocytosis, Myeloproliferative disorder, Splenomegaly, Extramedullary hematop...	OMIM:254450
Griscelli Syndrome	Jaundice, Hepatomegaly, Lymphadenopathy, Ascites, Bone marrow hypocellularity, Iris hypopigmentat...	ORPHA:381
Heterotaxy, Visceral, 1, X-Linked	Enlarged kidney, Hepatomegaly, Biliary atresia, Polysplenia, Asplenia, Renal agenesis, Cardiomega...	OMIM:306955
Meacham Syndrome	Enlarged kidney, Horseshoe kidney, Accessory spleen	OMIM:608978
Glycogen Storage Disease Of Heart, Lethal Congenital	Cardiomegaly, Enlarged kidney, Ascites, Cataract	OMIM:261740
Beckwith-Wiedemann Syndrome	Enlarged kidney, Hepatomegaly, Ureteral duplication, Abnormal pancreas morphology, Congenital meg...	ORPHA:116
Short Syndrome	Abnormal anterior chamber morphology, Corneal opacity, Megalocornea, Hypoplasia of the iris, Post...	ORPHA:3163
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult	Gastric hypertrophy, Gastric ulcer	OMIM:161700
Primary Myelofibrosis	Hepatomegaly, Anemia, Thrombocytosis, Lymphadenopathy, Pancytopenia, Leukocytosis, Portal hyperte...	ORPHA:824
Osteopetrosis, Autosomal Dominant 3	Hepatomegaly, Anemia, Splenomegaly	OMIM:618107
Endocrine-Cerebroosteodysplasia	Enlarged kidney, Hyperechogenic kidneys, Hypospadias, Microphallus	OMIM:612651
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:163596
Microphthalmia, Syndromic 16	Sclerocornea	OMIM:611038
Alpha-Thalassemia	Anisopoikilocytosis, Hemoglobin Barts, Jaundice, Anemia, Cholelithiasis, Reticulocytosis, Hepatos...	ORPHA:846
Farber Disease	Anemia, Lymphadenopathy, Intrahepatic cholestasis with episodic jaundice, Corneal opacity, Ascite...	ORPHA:333
Sjogren-Larsson Syndrome	Opacification of the corneal epithelium, Astigmatism	OMIM:270200
Alg9-Cdg	Enlarged kidney, Hepatomegaly, Periportal fibrosis, Abnormal renal artery morphology, Ureteral hy...	ORPHA:79328
Immunodeficiency 10	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Recurrent urinary tract infections, A...	OMIM:612783
Cholestasis, Progressive Familial Intrahepatic, 2	Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Hepatocellular carcinoma, Intermittent jaundic...	OMIM:601847
Drug-Induced Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Abnormal urinary color, Splenomegaly	ORPHA:90037
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Hepatomegaly, Anemia, Splenomegaly	OMIM:620296
Coach Syndrome 1	Cirrhosis, Hepatomegaly, Nephronophthisis, Unilateral renal agenesis, Abnormal abdomen morphology...	OMIM:216360
Lymphoproliferative Syndrome, X-Linked, 1	Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Lymphocytosis, Fu...	OMIM:308240
Mietens Syndrome	Cataract, Microcornea, Sclerocornea, Corneal opacity	ORPHA:2557
Lowry-Maclean Syndrome	Developmental glaucoma, Hypospadias, Corneal opacity, Megalocornea, Abnormality of the abdominal ...	ORPHA:2409
Overhydrated Hereditary Stomatocytosis	Jaundice, Hepatomegaly, Increased mean corpuscular volume, Reticulocytosis, Prolonged neonatal ja...	OMIM:185000
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Lymphadenopathy, Recurrent tonsillitis, Acute pancreatitis, Lymphadenitis, Nephrotic syndrome, He...	OMIM:618935
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Jaundice, Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Prol...	OMIM:300908
Mosaic Trisomy 9	Abnormal liver lobulation, Hypoplasia of penis, Corneal opacity, Asplenia, Hydronephrosis, Multip...	ORPHA:99776
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia	Keratitis, Corneal opacity, Conjunctivitis	OMIM:602562
Erythrocytosis, Familial, 1	Increased circulating hemoglobin concentration, Increased red blood cell mass, Splenomegaly, Incr...	OMIM:133100
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Jaundice, Hepatomegaly, Anemia of inadequate production, Exocrine pancreatic insufficiency, Splen...	OMIM:612714
Osteoporosis-Pseudoglioma Syndrome	Corneal opacity	ORPHA:2788
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Corneal opacity	OMIM:618961
Bartsocas-Papas Syndrome	Popliteal pterygium, Renal hypoplasia/aplasia, Corneal opacity	ORPHA:1234
Anemia, Congenital Dyserythropoietic, Type Iv	Hepatomegaly, Anemia, Reduced hematocrit, Hypospadias, Anemia of inadequate production, Persisten...	OMIM:613673
Ichthyosis, X-Linked	Opacification of the corneal stroma	OMIM:308100
Cutis Laxa, Autosomal Dominant 3	Developmental cataract, Corneal opacity, Unilateral renal agenesis	OMIM:616603
Caroli Disease	Cirrhosis, Intrahepatic cholestasis, Jaundice, Cholangitis, Cholelithiasis, Hepatomegaly, Liver a...	ORPHA:53035
Deafness-Lymphedema-Leukemia Syndrome	Acute leukemia, Hepatomegaly, Lymphadenopathy, Abnormal neutrophil count, Myeloproliferative diso...	ORPHA:3226
Peroxisome Biogenesis Disorder 2A (Zellweger)	Jaundice, Hepatomegaly, Polycystic kidney dysplasia, Intrahepatic biliary dysgenesis, Hypoplasia ...	OMIM:214110
Glycogen Storage Disease Ixa1	Hepatomegaly, Splenomegaly	OMIM:306000
Gaucher Disease, Type Iiic	Hepatomegaly, Pancytopenia, Splenomegaly, Cardiomegaly, Opacification of the corneal stroma	OMIM:231005
Lymphoproliferative Syndrome 1	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopeni...	OMIM:613011
Xp22.3 Microdeletion Syndrome	Opacification of the corneal stroma	ORPHA:1643
Congenital Pulmonary Lymphangiectasia	Ascites, Hepatomegaly, Splenomegaly	ORPHA:2414
Hereditary Orotic Aciduria	Oroticaciduria, Anemia, Abnormality of the ureter, Orotic acid crystalluria, Splenomegaly, Aminoa...	ORPHA:30
Immunodeficiency 32B	Hepatomegaly, Anemia, Monocytopenia, Neutrophilia, Thrombocytopenia, Splenomegaly, Eosinophilia, ...	OMIM:226990
Wolman Disease	Hepatomegaly, Anemia, Bone-marrow foam cells, Ascites, Splenomegaly	ORPHA:75233
Autoinflammation With Arthritis And Dyskeratosis	Autoimmune hemolytic anemia, Corneal neovascularization, Hepatomegaly, Punctate keratitis, Spleno...	OMIM:617388
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Perianal abscess, Anoperineal fistula, Diarrhea, Chronic gastritis, Esophagitis, Inflammation of ...	OMIM:301074
Wagro Syndrome	Aniridia, Corneal opacity, Cataract, Proteinuria, Nephroblastoma	OMIM:612469
Osteopetrosis, Autosomal Recessive 4	Hepatomegaly, Anemia, Reticulocytosis, Thrombocytopenia, Splenomegaly	OMIM:611490
Cholesteryl Ester Storage Disease	Cirrhosis, Hepatomegaly, Anemia, Periportal fibrosis, Bone-marrow foam cells, Portal hypertension...	OMIM:278000
Oculocerebral Hypopigmentation Syndrome, Cross Type	Anemia, Corneal opacity, Ureteral stenosis, Iris hypopigmentation, Cataract, Abnormality of the u...	ORPHA:2719
Recessive X-Linked Ichthyosis	Opacification of the corneal stroma	ORPHA:461
Wolfram Syndrome	Constipation, Gastrointestinal hemorrhage, Gastric ulcer	ORPHA:3463
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Mediastinal lymphadenopathy, Hemophagocytosis, Decreased proportion ...	OMIM:619802
Hereditary Bullous Dystrophy, Macular Type	Cataract, Corneal opacity	ORPHA:1867
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, B lymphocytopenia, ...	OMIM:301078
Microphthalmia/Coloboma 9	Ocular anterior segment dysgenesis, Sclerocornea, Microcornea, Iris coloboma	OMIM:615145
Mucopolysaccharidosis, Type Ivb	Hepatomegaly, Keratan sulfate excretion in urine, Corneal opacity, Chondroitin sulfate excretion ...	OMIM:253010
Beta-Thalassemia Intermedia	Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Proximal tubulopathy, Anemia of inadequate pro...	ORPHA:231222
Ectodermal Dysplasia-Blindness Syndrome	Corneal dystrophy, Microcornea, Sclerocornea, Cataract, Keratoconjunctivitis sicca	ORPHA:1806
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Aplasia of the thymus, B lymphocytopenia, Eosinophilia, Lymph node hypoplasia, Sple...	OMIM:602450
Mucolipidosis Type Iii Alpha/Beta	Keratan sulfate excretion in urine, Oligosacchariduria, Corneal opacity, Right ventricular hypert...	ORPHA:423461
Cholestasis, Progressive Familial Intrahepatic, 1	Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis with episodic jaundic...	OMIM:211600
Persistent Hyperplastic Primary Vitreous	Microcornea, Corneal opacity, Persistent pupillary membrane, Shallow anterior chamber, Developmen...	ORPHA:91495
Anemia, Congenital Dyserythropoietic, Type Ia	Hepatomegaly, Macrocytic dyserythropoietic anemia, Anemia of inadequate production, Bite cells, R...	OMIM:224120
Gaucher Disease Type 1	Cirrhosis, Hepatomegaly, Anemia, Hematuria, Cholelithiasis, Pancytopenia, Pinguecula, Biliary tra...	ORPHA:77259
8Q21.11 Microdeletion Syndrome	Hypoplasia of penis, Corneal opacity, Iris hypopigmentation, Sclerocornea, Cataract	ORPHA:284160
Walker-Warburg Syndrome	Hypoplasia of penis, Microcornea, Corneal opacity, Cataract, Iris coloboma	ORPHA:899
Bile Acid Synthesis Defect, Congenital, 2	Jaundice, Intrahepatic cholestasis, Splenomegaly, Hepatomegaly	OMIM:235555
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Leukocytosis, Nephrotic sy...	ORPHA:39041
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morpholog...	ORPHA:100026
Mucopolysaccharidosis, Type Vii	Hepatomegaly, Corneal opacity, Dermatan sulfate excretion in urine, Splenomegaly, Urinary glycosa...	OMIM:253220
Schimmelpenning-Feuerstein-Mims Syndrome	Hyperphosphaturia, Corneal opacity, Horseshoe kidney	OMIM:163200
Gm1 Gangliosidosis	Corneal opacity, Hepatosplenomegaly, Splenomegaly	ORPHA:354
Glycogen Storage Disease Ixc	Cirrhosis, Hepatomegaly, Increased hepatic glycogen content, Bile duct proliferation, Splenomegaly	OMIM:613027
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Developmental glaucoma, Splenic cyst, Polycystic kidney dysplasia, Pancreatic hypop...	OMIM:610199
Mucopolysaccharidosis Type 6	Mucopolysacchariduria, Opacification of the corneal stroma, Splenomegaly	ORPHA:583
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Leukocytosis	OMIM:618042
Olmsted Syndrome 1	Opacification of the corneal stroma, Corneal opacity	OMIM:614594
Schimke Immunoosseous Dysplasia	Abnormal T cell morphology, Astigmatism, Anemia, Pancytopenia, Focal segmental glomerulosclerosis...	OMIM:242900
Ogden Syndrome	Enlarged kidney, Jaundice, Macrovesicular hepatic steatosis, Iron deficiency anemia, Microvesicul...	OMIM:300855
Mucopolysaccharidosis Type 1	Mucopolysacchariduria, Abnormality of the tonsils, Corneal opacity, Splenomegaly	ORPHA:579
Meckel Syndrome	Ureteral duplication, Multicystic kidney dysplasia, Accessory spleen, Microcornea, Asplenia, Cong...	ORPHA:564
Bile Acid Synthesis Defect, Congenital, 1	Cirrhosis, Jaundice, Intrahepatic cholestasis, Giant cell hepatitis, Hepatomegaly, Splenomegaly, ...	OMIM:607765
Budd-Chiari Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Ascites, Portal hypertension, Splenomegaly, Peritonitis, Chole...	ORPHA:131
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Stage 5 chronic kidney disease, Corneal crystals, Proteinuria	OMIM:219900
Helsmoortel-Van Der Aa Syndrome	Enuresis nocturna, Recurrent urinary tract infections, Enlarged kidney, Astigmatism	OMIM:615873
Cardiac-Urogenital Syndrome	Enlarged kidney, Penoscrotal hypospadias, Accessory spleen, Patent urachus, Hepatopulmonary fusio...	OMIM:618280
Dermochondrocorneal Dystrophy	Corneal dystrophy, Subepithelial corneal opacities, Anterior cortical cataract	OMIM:221800
Rodrigues Blindness	Microcornea, Sclerocornea	OMIM:268320
Microphthalmia With Brain And Digit Anomalies	Cataract, Microcornea, Sclerocornea, Iris coloboma	ORPHA:139471
Bile Acid Synthesis Defect, Congenital, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Acholic stools, Bile duct proliferat...	OMIM:613812
Fabry Disease	Abnormal renal tubule morphology, Glomerulopathy, Cornea verticillata, Hematuria, Anemia, Corneal...	ORPHA:324
Dehydrated Hereditary Stomatocytosis	Macrocytic anemia, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Increased...	ORPHA:3202
Proteasome-Associated Autoinflammatory Syndrome 4	Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly, Lymphadenopathy	OMIM:619183
3Mc Syndrome 3	Penoscrotal hypospadias, Corneal opacity, Micropenis, Horseshoe kidney	OMIM:248340
Autoimmune Hemolytic Anemia, Warm Type	Autoimmune hemolytic anemia, Jaundice, Chronic lymphatic leukemia, Splenomegaly, Abnormal urinary...	ORPHA:90033
Encephalocraniocutaneous Lipomatosis	Pelvic kidney, Hypoplasia of the iris, Hydronephrosis, Sclerocornea, Limbal dermoid	OMIM:613001
Hurler Syndrome	Hepatomegaly, Abnormality of the tonsils, Corneal opacity, Mucopolysacchariduria, Splenomegaly	ORPHA:93473
Oculomaxillofacial Dysostosis	Corneal opacity	ORPHA:1794
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoplasia of the thymus, Severe B lymp...	OMIM:603554
Distal Deletion 6P	Abnormal anterior chamber morphology, Corneal opacity, Hypoplasia of the iris, Posterior embryoto...	ORPHA:96125
Leprechaunism	Enlarged kidney, Hepatomegaly, Long penis, Hypercalciuria, Nephrocalcinosis, Enlarged ovaries	ORPHA:508
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Iris coloboma, Sclerocornea, Hypospadias, Hypoplasia of penis	ORPHA:77298
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Splenomegaly, Anemia, Hemophagocytosis, Pancytopenia	OMIM:618398
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hepatomegaly, Lymphadenopathy, Hypoplasia of the iris, Thrombocytopenia, Splenomegaly, Hemolytic ...	ORPHA:169090
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Lymphocytosis, Bone marrow hypocellularity, Splenomegaly, A...	ORPHA:86843
Cranial Dysinnervation Disorder, Congenital, With Absent Corneal Reflex And Developmental Delay	Corneal opacity	OMIM:620469
Autoimmune Polyendocrine Syndrome, Type Ii	Cirrhosis, Iron deficiency anemia, Band keratopathy, Keratoconjunctivitis, Asplenia, Chronic hepa...	OMIM:269200
Sitosterolemia 1	Corneal arcus, Chronic hemolytic anemia, Giant platelets, Anemia, Episodic hemolytic anemia, Reti...	OMIM:210250
Systemic-Onset Juvenile Idiopathic Arthritis	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:85414
Ophthalmomandibulomelic Dysplasia	Opacification of the corneal stroma, Megalocornea	OMIM:164900
Mucopolysaccharidosis Type 3	Hepatomegaly, Recurrent tonsillitis, Corneal opacity, Cataract, Mucopolysacchariduria, Splenomega...	ORPHA:581
Metachromatic Leukodystrophy	Neoplasm of the gallbladder, Bowel incontinence, Abnormal duodenum morphology, Abnormal stomach m...	ORPHA:512
Wilson Disease	Sunflower cataract, Portal fibrosis, Ascites, Splenomegaly, Hepatic steatosis, Jaundice, Hepatoce...	OMIM:277900
Ichthyosis, Congenital, Autosomal Recessive 11	Corneal opacity	OMIM:602400
Lathosterolosis	Anisopoikilocytosis, Intrahepatic cholestasis, Hepatomegaly, Hypoplasia of penis, Microcornea, Th...	ORPHA:46059
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Increased mean corpuscular volume, Portal hypertension, Thrombocytopenia, Splenomegaly, Nodular r...	OMIM:620367
Focal Dermal Hypoplasia	Renal hypoplasia/aplasia, Corneal opacity, Hypoplasia of the iris, Ectopia lentis, Hydronephrosis...	ORPHA:2092
Sanjad-Sakati Syndrome	Astigmatism, Corneal opacity, Hypoplasia of penis	ORPHA:2323
Proteus Syndrome	Enlarged kidney, Buphthalmos, Long penis, Neoplasm of the thymus, Renal cyst, Enlarged polycystic...	ORPHA:744
Immunodeficiency 36 With Lymphoproliferation	Chronic lymphatic leukemia, B lymphocytopenia, Increased proportion of transitional B cells, Decr...	OMIM:616005
Oculoauricular Syndrome	Microphakia, Ocular anterior segment dysgenesis, Iris cyst, Microcornea, Posterior embryotoxon, D...	OMIM:612109
Mucolipidosis Type Iv	Corneal opacity	ORPHA:578
Insensitivity To Pain, Congenital, With Anhidrosis	Recurrent corneal erosions, Corneal ulceration, Corneal scarring, Keratitis, Opacification of the...	OMIM:256800
Thrombocytopenia-Absent Radius Syndrome	Renal malrotation, Ureteral duplication, Anemia, Vesicoureteral reflux, Corneal opacity, Leukocyt...	OMIM:274000
Axenfeld-Rieger Syndrome, Type 2	Opacification of the corneal stroma, Microcornea, Hypospadias, Anterior chamber synechiae	OMIM:601499
Fryns Syndrome	Hypospadias, Vesicoureteral reflux, Corneal opacity, Hydronephrosis, Multicystic kidney dysplasia	ORPHA:2059
Aniridia 1	Corneal neovascularization, Aniridia, Corneal erosion, Hypoplasia of the iris, Anterior subcapsul...	OMIM:106210
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Astigmatism, Unilateral renal agenesis, Hypospadias, Pelvic kidney, Corneal opacity, Renal cyst, ...	ORPHA:464311
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Nephroblastoma, Renal hypoplasia, Splenomegaly	OMIM:612918
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Hypospadias, Microcornea, Sclerocornea, Ectopia pupillae, Cataract	OMIM:615877
Histiocytoid Cardiomyopathy	Hepatomegaly, Corneal opacity, Congenital aphakia, Renal cyst, Megalocornea, Cardiomegaly	ORPHA:137675
Oculocerebrocutaneous Syndrome	Corneal opacity, Iris coloboma	ORPHA:1647
Simpson-Golabi-Behmel Syndrome, Type 1	Enlarged kidney, Hepatomegaly, Hypospadias, Renal cyst, Hydronephrosis, Splenomegaly, Right ventr...	OMIM:312870
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Pancreatitis, Splenomegaly	OMIM:207750
Mixed Connective Tissue Disease	Gastroesophageal reflux, Gastrointestinal hemorrhage, Gastritis, Xerostomia	ORPHA:809
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Jaundice, Hepatomegaly, Splenomegaly, Cataract, Stomatocytosis, Nuclear cataract, Hemolytic anemia	OMIM:608885
Nasopalpebral Lipoma-Coloboma Syndrome	Cataract, Conjunctival hyperemia, Corneal opacity	ORPHA:2399
Mosaic Trisomy 8	Hydronephrosis, Corneal opacity, Vesicoureteral reflux	ORPHA:96061
Carpenter Syndrome 1	Hydroureter, Microcornea, Hydronephrosis, Opacification of the corneal stroma, Polysplenia	OMIM:201000
Dyrk1A-Related Intellectual Disability Syndrome	Astigmatism, Unilateral renal agenesis, Hypospadias, Pelvic kidney, Corneal opacity, Renal cyst, ...	ORPHA:464306
Systemic Sclerosis	Abnormality of the gastrointestinal tract, Gastroesophageal reflux, Gastroparesis, Gastrointestin...	ORPHA:90291
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Hypochromic microcytic anemia, B lymphocytopenia, Sideroblastic anemia, Nephrocalcinosis, Splenom...	OMIM:616084
Peroxisome Biogenesis Disorder 5A (Zellweger)	Jaundice, Hepatomegaly, Hypospadias, Intrahepatic biliary dysgenesis, Polycystic kidney dysplasia...	OMIM:614866
Williams Syndrome	Peptic ulcer, Rectal prolapse, Gastroesophageal reflux, Cholelithiasis, Tracheoesophageal fistula...	ORPHA:904
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Jaundice, Hepatomegaly, Sclerosing cholangitis, Intrahepatic biliary atresia, Cholestasis, Portal...	OMIM:607626
Alpha-Mannosidosis, Infantile Form	Astigmatism, Pancytopenia, Recurrent urinary tract infections, Corneal opacity, Hepatosplenomegal...	ORPHA:309282
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Renal artery stenosis, Renal hypoplasia, Nephrocalcinosis, Hydronephrosis, Splenomegaly, Cataract...	OMIM:617913
Spondyloepiphyseal Dysplasia, Maroteaux Type	Mucopolysacchariduria, Opacification of the corneal stroma	OMIM:184095
Oculocerebrorenal Syndrome Of Lowe	Abnormal renal tubule morphology, Glomerulopathy, Anemia, Hematuria, Hypercalciuria, Corneal opac...	ORPHA:534
Familial Tumoral Calcinosis	Hepatomegaly, Nephrocalcinosis, Splenomegaly	ORPHA:53715
Mucopolysaccharidosis Type 4	Mucopolysacchariduria, Corneal opacity	ORPHA:582
Mucopolysaccharidosis, Type Vi	Hepatomegaly, Corneal opacity, Splenomegaly, Dermatan sulfate excretion in urine	OMIM:253200
Gaucher Disease	Cirrhosis, Hepatomegaly, Anemia, Hematuria, Cholelithiasis, Pancytopenia, Corneal opacity, Spleni...	ORPHA:355
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Opacification of the corneal stroma	OMIM:601356
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Corneal opacity, Megalocornea, Cataract, Renal dysplasia, Buphthalmos, Peters anomaly	OMIM:236670
Scheie Syndrome	Corneal opacity	OMIM:607016
Mucoepithelial Dysplasia, Hereditary	Corneal neovascularization, Hematuria, Keratoconjunctivitis, Cataract, Eosinophilia, Opacificatio...	OMIM:158310
Mosaic Variegated Aneuploidy Syndrome	Corneal opacity, Ascites, Cataract, Acute lymphoblastic leukemia, Nephroblastoma, Multicystic kid...	ORPHA:1052
Congenital Disorder Of Deglycosylation 1	3-Methylglutaconic aciduria, Hepatomegaly, Corneal ulceration, Keratan sulfate excretion in urine...	OMIM:615273
Chromosome 6Pter-P24 Deletion Syndrome	Ocular anterior segment dysgenesis, Axenfeld anomaly, Posterior embryotoxon, Opacification of the...	OMIM:612582
Glycogen Storage Disease Xii	Normocytic anemia, Jaundice, Hepatomegaly, Decreased erythrocyte fructose-1,6-bisphosphate aldola...	OMIM:611881
Porphyria, Congenital Erythropoietic	Jaundice, Hepatomegaly, Red urine, Cholelithiasis, Corneal scarring, Thrombocytopenia, Splenomega...	OMIM:263700
Peroxisome Biogenesis Disorder 1A (Zellweger)	Hepatomegaly, Hypospadias, Intrahepatic biliary dysgenesis, Prolonged neonatal jaundice, Renal co...	OMIM:214100
Mucolipidosis Iii Alpha/Beta	Mucopolysacchariduria, Opacification of the corneal stroma, Hyperopic astigmatism, Hepatomegaly	OMIM:252600
Hyperparathyroidism, Neonatal Severe	Polyuria, Hepatomegaly, Anemia, Hypercalciuria, Hyperphosphaturia, Splenomegaly, Aminoaciduria	OMIM:239200
3Q29 Microduplication Syndrome	Cataract, Sclerocornea, Aniridia, Iris coloboma	ORPHA:251038
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Lens subluxation, Corneal opacity, Ectopia pupillae, Increased hepatic echogenicity	OMIM:608940
Hereditary Elliptocytosis	Jaundice, Cholelithiasis, Reticulocytosis, Poikilocytosis, Prolonged neonatal jaundice, Elliptocy...	ORPHA:288
Tyrosinemia Type 2	Corneal opacity	ORPHA:28378
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Anemia, Cholelithiasis, Pancytopenia, Corneal opacity, Hepatosplenomegaly, Abnormality of the spl...	ORPHA:2072
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Gastritis, Abnormal intestine morphology, Vomiting, Secretory diarrhea, Recurrent gastroenteritis...	ORPHA:37042
Zygomycosis	Hematemesis, Gastrointestinal hemorrhage, Gastritis, Melena, Diarrhea, Vomiting, Enterocolitis, N...	ORPHA:73263
Isolated Biliary Atresia	Cirrhosis, Jaundice, Hepatomegaly, Periportal fibrosis, Cholestasis, Bile duct proliferation, Atr...	ORPHA:30391
Ethylene Glycol Poisoning	Vomiting, Nausea, Gastritis	ORPHA:31826
Mucopolysaccharidosis Type 2, Severe Form	Corneal opacity, Dermatan sulfate excretion in urine, Enlarged tonsils, Hepatosplenomegaly, Splen...	ORPHA:217085
Ocular Cystinosis	Corneal crystals	ORPHA:411641
Congenital Tracheal Stenosis	Meckel diverticulum, Abnormal gastrointestinal tract morphology, Anal atresia, Tracheoesophageal ...	ORPHA:141127
Mucopolysaccharidosis Type 2, Attenuated Form	Corneal opacity, Dermatan sulfate excretion in urine, Enlarged tonsils, Hepatosplenomegaly, Splen...	ORPHA:217093
Pelvis-Shoulder Dysplasia	Opacification of the corneal stroma, Iris coloboma	OMIM:169550
Mucopolysaccharidosis, Type Iva	Keratan sulfate excretion in urine, Chondroitin sulfate excretion in urine, Hepatomegaly, Opacifi...	OMIM:253000
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Lens subluxation, Corneal opacity, Ectopia pupillae	ORPHA:85167
Gorlin-Chaudhry-Moss Syndrome	Astigmatism, Sclerocornea	ORPHA:2095
Chime Syndrome	Acute leukemia, Abnormality of the kidney, Hydronephrosis, Corneal opacity	ORPHA:3474
Mosaic Trisomy 1	Renal cortical cysts, Renal cyst, Hepatic agenesis, Penile hypospadias, Opacification of the corn...	ORPHA:1692
Incontinentia Pigmenti	Cataract, Eosinophilia, Corneal opacity, Keratitis	ORPHA:464
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative bur...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative bur...	OMIM:233710
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Increased mean platelet volume, Thrombocytopenia, Splenomegaly, Stomatocytosis, Hemolytic anemia	OMIM:153670
Kindler Epidermolysis Bullosa	Anemia, Phimosis, Corneal opacity, Conjunctivitis, Urethral stricture, Neoplasm of the urethra	ORPHA:2908
Parenteral Nutrition-Associated Cholestasis	Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Portal hypertension, Biliary hyperplasia, Sple...	ORPHA:567983
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Hypospadias, Corneal dystrophy, Corneal opacity, Renal cyst, Buphthalmos, Keratoconjunctivitis sicca	ORPHA:495875
Linear Skin Defects With Multiple Congenital Anomalies 1	Hypospadias, Chordee, Sclerocornea, Cataract, Peters anomaly, Micropenis, Iris coloboma	OMIM:309801
Chromosome 8Q21.11 Deletion Syndrome	Cataract, Sclerocornea, Micropenis	OMIM:614230
Syndromic Diarrhea	Intractable diarrhea, Gastritis, Colitis, Bloody diarrhea, Hypoplasia of the thymus, Hepatoblasto...	ORPHA:84064
Autoimmune Polyendocrinopathy Type 1	Cataract, Opacification of the corneal stroma	ORPHA:3453
Juvenile Nephropathic Cystinosis	Low-molecular-weight proteinuria, Renal phosphate wasting, Proximal tubulopathy, Microscopic hema...	ORPHA:411634
Gomez-Lopez-Hernandez Syndrome	Opacification of the corneal stroma	OMIM:601853
Tbck-Related Intellectual Disability Syndrome	Neurogenic bladder, Corneal opacity	ORPHA:488632
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative bur...	OMIM:233690
Multiple Myeloma	Acute kidney injury, Anemia, Lymphadenopathy, Abnormality of the bladder, Nephrotic syndrome, Spl...	ORPHA:29073
Hyperlipoproteinemia, Type I	Jaundice, Acute pancreatitis, Splenomegaly, Hepatosplenomegaly	OMIM:238600
Mucolipidosis Iii Gamma	Mucopolysacchariduria, Opacification of the corneal stroma	OMIM:252605
Premature Aging Syndrome, Penttinen Type	Corneal stromal edema, Corneal opacity	OMIM:601812
Multicentric Osteolysis, Nodulosis, And Arthropathy	Peripheral opacification of the cornea, Corneal opacity	OMIM:259600
Proboscis Lateralis	Unilateral renal agenesis, Microcornea, Corneal opacity, Ureteral agenesis, Cataract, Duplication...	ORPHA:141099
Galloway-Mowat Syndrome 1	Focal segmental glomerulosclerosis, Hypoplasia of the iris, Nephrotic syndrome, Proteinuria, Cata...	OMIM:251300
De Barsy Syndrome	Cataract, Corneal opacity	ORPHA:2962
Infantile Nephropathic Cystinosis	Low-molecular-weight proteinuria, Abnormal cornea morphology, Glycosuria, Hyperphosphaturia, Corn...	ORPHA:411629
Hyperlipoproteinemia, Type Id	Hepatomegaly, Pancreatitis, Splenomegaly, Recurrent pancreatitis	OMIM:615947
Cystinosis, Adult Nonnephropathic	Corneal crystals	OMIM:219750
Peters Plus Syndrome	Renal hypoplasia/aplasia, Ureteral duplication, Hypospadias, Microcornea, Corneal opacity, Hydron...	ORPHA:709
Mucopolysaccharidosis Type 2	Enlarged tonsils, Corneal opacity, Splenomegaly, Hepatomegaly	ORPHA:580
Fraser Syndrome 1	Renal hypoplasia/aplasia, Hypospadias, Corneal opacity, Renal hypoplasia, Abnormal thymus morphol...	OMIM:219000
Immunodeficiency 82 With Systemic Inflammation	Duodenal ulcer, Intractable diarrhea, Villous atrophy, Gastritis, Anoperineal fistula, Diarrhea, ...	OMIM:619381
Digeorge Syndrome	Anemia, Unilateral renal agenesis, Cholelithiasis, Renal insufficiency, Hypoplasia of the thymus,...	OMIM:188400
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Corneal neovascularization, Astigmatism, Polycoria, Microcornea, Corneal opacity, Hypoplasia of t...	OMIM:175780
Spondylodysplastic Ehlers-Danlos Syndrome	Posterior subcapsular cataract, Corneal opacity, Megalocornea, Iris coloboma	ORPHA:536471
Smith-Lemli-Opitz Syndrome	Abnormality of the gallbladder, Renal hypoplasia/aplasia, Hypospadias, Hypoplasia of penis, Hydro...	ORPHA:818
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Corneal opacity, Anemia	ORPHA:79396
Microphthalmia With Linear Skin Defects Syndrome	Epispadias, Hypospadias, Corneal opacity, Posterior embryotoxon, Sclerocornea, Abnormal penis mor...	ORPHA:2556
Cockayne Syndrome B	Hepatomegaly, Renal insufficiency, Microcornea, Hypoplasia of the iris, Developmental cataract, P...	OMIM:133540
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities	Corneal opacity	OMIM:620519
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Abnormality of the kidney, Astigmatism, Hydroureter, Corneal erosion, Corneal opacity, Abnormalit...	ORPHA:2273
Wolf-Hirschhorn Syndrome	Abnormality of the kidney, Abnormality of the gallbladder, Hypospadias, Megalocornea, Sclerocorne...	ORPHA:280
Ablepharon Macrostomia Syndrome	Corneal opacity, Corneal erosion, Hypoplasia of penis	ORPHA:920
Apolipoprotein A-I Deficiency	Opacification of the corneal stroma	ORPHA:425
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Corneal opacity	ORPHA:364577
Fryns Syndrome	Ureteral duplication, Hypospadias, Renal cyst, Renal agenesis, Hydronephrosis, Ectopic pancreatic...	OMIM:229850
Limb Body Wall Complex	Abnormality of the kidney, Corneal opacity, Abnormality of the liver, Lens subluxation, Iris colo...	ORPHA:2369
Autosomal Dominant Cutis Laxa	Unilateral renal agenesis, Corneal opacity, Developmental cataract, Bladder diverticulum, Pyelone...	ORPHA:90348
Cockayne Syndrome A	Hepatomegaly, Renal insufficiency, Thymic hormone decreased, Splenomegaly, Proteinuria, Cataract,...	OMIM:216400
Moebius Syndrome	Corneal opacity	ORPHA:570
Oculoectodermal Syndrome	Astigmatism, Microcornea, Bladder exstrophy, Limbal dermoid, Opacification of the corneal stroma	OMIM:600268
Microphthalmia, Syndromic 3	Cataract, Sclerocornea, Micropenis, Hypospadias	OMIM:206900
Neurofibromatosis Type 1	Corneal opacity, Heterochromia iridis, Abnormality of the upper urinary tract, Chronic myelogenou...	ORPHA:636
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Opacification of the corneal stroma	OMIM:313400
Encephalocraniocutaneous Lipomatosis	Corneal opacity, Iris coloboma	ORPHA:2396
Roberts-Sc Phocomelia Syndrome	Hypospadias, Long penis, Accessory spleen, Polycystic kidney dysplasia, Corneal opacity, Biliary ...	OMIM:268300
Hereditary Acrokeratotic Poikiloderma	Abnormal renal tubule morphology, Abnormal preputium morphology, Keratoconjunctivitis, Opacificat...	ORPHA:2907
Coffin-Siris Syndrome 1	Duodenal ulcer, High palate, Intestinal malrotation, Cleft palate, Intussusception, Cryptorchidis...	OMIM:135900
Neurocardiofaciodigital Syndrome	Cataract, Vesicoureteral reflux, Sclerocornea	OMIM:619869
Osteogenesis Imperfecta	Hypercalciuria, Corneal opacity, Thrombocytopenia, Nephrolithiasis	ORPHA:666
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Cardiomegaly, Opacification of the corneal stroma	ORPHA:79280
Norrie Disease	Aplasia/Hypoplasia of the lens, Corneal opacity, Hypoplasia of the iris, Ectopia lentis, Scleroco...	ORPHA:649
Linear Skin Defects With Multiple Congenital Anomalies 3	Sclerocornea	OMIM:300952
Larsen Syndrome	Corneal opacity	OMIM:150250
Wiedemann-Rautenstrauch Syndrome	Hypospadias, Dilatation of renal calices, Recurrent urinary tract infections, Vesicoureteral refl...	ORPHA:3455
Bartsocas-Papas Syndrome 1	Popliteal pterygium, Axillary pterygium, Ectopic kidney, Pterygium, Corneal ulceration, Opacifica...	OMIM:263650
Phace Syndrome	Heterochromia iridis, Sclerocornea, Lens coloboma, Cataract, Iris coloboma	ORPHA:42775
Van Den Ende-Gupta Syndrome	Dilatation of the renal pelvis, Sclerocornea	OMIM:600920
Xeroderma Pigmentosum	Pterygium, Conjunctival telangiectasia, Keratitis, Cataract, Opacification of the corneal stroma,...	ORPHA:910
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Corneal opacity	OMIM:608670
Yunis-Varon Syndrome	Hypospadias, Renal artery stenosis, Cataract, Renovascular hypertension, Sclerocornea, Cardiomega...	ORPHA:3472
Stuve-Wiedemann Syndrome 1	Opacification of the corneal stroma	OMIM:601559
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Opacification of the corneal stroma, Hydronephrosis, Multicystic kidney dysplasia, Micropenis	OMIM:615287
Hutchinson-Gilford Progeria Syndrome	Corneal opacity, Corneal ulceration	ORPHA:740
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Recurrent corneal erosions, Corneal neovascularization, Unilateral renal agenesis, Hypospadias, R...	OMIM:308205
Microphthalmia, Syndromic 6	Renal hypoplasia, Microcornea, Sclerocornea	OMIM:607932
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Cataract, Opacification of the corneal stroma, Buphthalmos, Megalocornea	OMIM:253280
Yunis-Varon Syndrome	Cataract, Sclerocornea, Micropenis, Hypospadias	OMIM:216340
Cystic Fibrosis	Steatorrhea, Rectal prolapse, Gastroesophageal reflux, Meconium ileus, Exocrine pancreatic insuff...	ORPHA:586

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 Slc26a9

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

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 Slc26a9.

No publications found that use IMPC mice or data for Slc26a9.

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MGI Allele	Allele Type	Produced
Slc26a9^em1(IMPC)Mbp	Exon Deletion	Mice, Tissue
Slc26a9^{tm55424(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

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: Slc26a9 MGI:2444594

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

MicroCT E18.5

Gross Morphology Embryo E18.5

Human diseases caused by Slc26a9 mutations

Histopathology

IMPC related publications

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Access Data Release 21.0 Data