Gene Summary

Name:
solute carrier family 26, member 9
Synonyms:
anion transporter/exchanger-9,  E030002L01Rik

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
corneal opacity Slc26a9em1(IMPC)Mbp HET Early adult 1.58×10-06
no spontaneous movement Slc26a9em1(IMPC)Mbp HOM E18.5 0.00
abnormal cornea morphology Slc26a9em1(IMPC)Mbp HET   Early adult 4.32×10-05
enlarged kidney Slc26a9em1(IMPC)Mbp HET Early adult 0.00
abnormal spleen morphology Slc26a9em1(IMPC)Mbp HET Early adult 0.00
enlarged spleen Slc26a9em1(IMPC)Mbp HET Early adult 0.00
abnormal kidney morphology Slc26a9em1(IMPC)Mbp HET Early adult 0.00
no spontaneous movement Slc26a9em1(IMPC)Mbp HET E18.5 0.00
preweaning lethality, incomplete penetrance Slc26a9em1(IMPC)Mbp HOM   Early adult 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

60 Images

X-ray

XRay Images Whole Body Lateral Orientation

20 Images

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.

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Cystic Fibrosis
Exocrine pancreatic insufficiency, Malabsorption ORPHA:586

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Polyposis of gastric fundus without polyposis coli
Abnormal gastric mucosa morphology, Multiple gastric polyps OMIM:175505
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal opacity, Corneal dystrophy OMIM:300779
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Polyposis, gastric
Multiple gastric polyps OMIM:175020
Corneal Degeneration, Band-Shaped Spheroid
Corneal degeneration OMIM:217520
Corneal Dystrophy, Lisch Epithelial
Corneal dystrophy OMIM:300778
Corneal Dystrophy, Fuchs Endothelial, 8
Corneal dystrophy OMIM:615523
Dermoids Of Cornea
Corneal opacity OMIM:304730
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal opacity, Corneal dystrophy ORPHA:1490
Ménétrier Disease
Nausea, Gastrointestinal hemorrhage, Giant hypertrophic gastritis, Helicobacter pylori infection,... ORPHA:2494
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Corneal opacity, Hepatomegaly ORPHA:2432
Cataract-Microcornea Syndrome
Corneal dystrophy, Microcornea, Cataract, Corneal opacity, Iris coloboma ORPHA:1377
Nk-Cell Enteropathy
Hematochezia, Gastric ulcer, Intestinal polyp, Constipation, Gastroesophageal reflux, Colonic div... ORPHA:263665
Fetal Cytomegalovirus Syndrome
Anemia, Splenomegaly, Hepatomegaly ORPHA:294
Oculogastrointestinal Muscular Dystrophy
Abnormality of the gastrointestinal tract, Gastroparesis, Abnormal gastric mucosa morphology, Mal... ORPHA:1876
Glaucoma 3, Primary Congenital, D
Corneal opacity, Ectopia lentis, Primary congenital glaucoma OMIM:613086
Bilateral Striopallidodentate Calcinosis
Corneal opacity, Abnormality of the liver, Thrombocytopenia, Hepatomegaly ORPHA:1980
Immunodeficiency, Common Variable, 6
Enlarged kidney, Mesangial Immune complex deposition, Hydronephrosis, Autoimmune thrombocytopenia... OMIM:613496
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Granular corneal dystrophy, Nodular corneal dystrophy, Cataract OMIM:121900
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
Inflammatory Bowel Disease (Crohn Disease) 30
Bloody diarrhea, Pancolitis, Chronic diarrhea, Ileitis, Abnormal intestine morphology, Protein-lo... OMIM:619079
Congenital Megacalycosis
Enlarged kidney, Renal cyst, Nephrolithiasis, Hematuria, Hydronephrosis, Tubulointerstitial nephr... ORPHA:93109
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal opacity, Corneal dystrophy ORPHA:3177
Diffuse Gastric And Lobular Breast Cancer Syndrome
Stomach cancer, Atrophic gastritis, Cleft palate OMIM:137215
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Absence of intrinsic factor OMIM:243320
Corneal Dystrophy, Epithelial Basement Membrane
Map-dot-fingerprint corneal dystrophy, Recurrent corneal erosions, Corneal dystrophy OMIM:121820
Nephronophthisis 16
Enlarged kidney, Cholestasis, Polycystic kidney dysplasia, Renal insufficiency, Nephronophthisis,... OMIM:615382
Central Cloudy Dystrophy Of Francois
Corneal dystrophy, Central corneal dystrophy OMIM:217600
Schnyder Corneal Dystrophy
Crystalline corneal dystrophy, Corneal dystrophy OMIM:121800
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Fish-Eye Disease
Lymphadenopathy, Corneal opacity, Splenomegaly, Hepatomegaly ORPHA:79292
Pyloric Atresia
Congenital pyloric atresia OMIM:265950
Morquio Syndrome C
Corneal opacity OMIM:252300
Galactosialidosis
Corneal opacity ORPHA:351
Thiel-Behnke Corneal Dystrophy
Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Opacification of the cor... ORPHA:98960
Lattice Corneal Dystrophy Type I
Abnormal cornea morphology, Corneal scarring, Subepithelial corneal opacities, Astigmatism, Corne... ORPHA:98964
Dubin-Johnson Syndrome
Abnormal gastric mucosa morphology ORPHA:234
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Splenomegaly, Elevated urinary delta-aminolevulinic acid, Jaundice OMIM:206400
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Keratitis, Hereditary
Opacification of the corneal stroma, Keratitis OMIM:148190
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Renal cyst, Portal hypertension, Pancreatic cysts, Periportal fibrosis, Splenome... OMIM:263200
Corneal Degeneration, Ribbonlike, With Deafness
Band keratopathy, Ribbonlike corneal degeneration OMIM:121450
Ring Dermoid Of Cornea
Abnormal cornea morphology, Abnormal conjunctiva morphology, Conjunctival dermolipoma, Abnormalit... OMIM:180550
Pyloric Stenosis, Infantile Hypertrophic, 1
Projectile vomiting, Pyloric stenosis OMIM:179010
Macular Dystrophy, Corneal
Recurrent corneal erosions, Corneal dystrophy, Punctate opacification of the cornea OMIM:217800
Galactose Epimerase Deficiency
Cataract, Splenomegaly, Hepatomegaly, Jaundice, Aminoaciduria ORPHA:79238
Hemoglobin H Disease
Splenomegaly, Hepatomegaly, HbH hemoglobin, Hemolytic anemia, Reduced alpha/beta synthesis ratio OMIM:613978
Aa Amyloidosis
Enlarged kidney, Nephrotic syndrome, Cholestasis, Acute kidney injury, Proteinuria, Abnormality o... ORPHA:85445
Corneal Dystrophy And Perceptive Deafness
Opacification of the corneal stroma, Corneal dystrophy OMIM:217400
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly, Hepatomegaly ORPHA:46532
Corneal Dystrophy, Reis-Bucklers Type
Opacification of the corneal stroma, Corneal opacity, Corneal erosion, Corneal dystrophy OMIM:608470
Renal-Hepatic-Pancreatic Dysplasia 2
Enlarged kidney, Cystic renal dysplasia, Cholestasis, Hepatomegaly, Asplenia, Hepatic fibrosis OMIM:615415
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Renal Dysplasia
Pelvic mass, Ureteral atresia, Functional abnormality of the bladder, Hydronephrosis, Multicystic... ORPHA:93108
Lecithin:Cholesterol Acyltransferase Deficiency
Proteinuria, Hemolytic anemia, Renal insufficiency, Opacification of the corneal stroma, Normochr... OMIM:245900
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach
Fundic gland polyposis, Gastric adenocarcinoma, Melena OMIM:619182
Cap Polyposis
Colorectal polyposis, Hematochezia, Constipation, Atrophic gastritis, Diarrhea ORPHA:160148
Hurler-Scheie Syndrome
Abnormality of the tonsils, Corneal opacity, Splenomegaly, Hepatomegaly ORPHA:93476
Spinocerebellar Degeneration And Corneal Dystrophy
Opacification of the corneal stroma, Corneal dystrophy OMIM:271310
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Hematuria, Posterior embryotoxon, Cataract, Corneal opacity, Iris coloboma ORPHA:1473
Winchester Syndrome
Corneal opacity OMIM:277950
Gastritis, Familial Giant Hypertrophic
Giant hypertrophic gastritis OMIM:137280
Renal-Hepatic-Pancreatic Dysplasia 1
Biliary cirrhosis, Enlarged kidney, Cholestasis, Pancreatic cysts, Bile duct proliferation, Urete... OMIM:208540
X-Linked Endothelial Corneal Dystrophy
Band keratopathy, Abnormal corneal endothelium morphology, Corneal opacity, Nuclear cataract ORPHA:293621
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Familial Pterygium Of The Conjunctiva
Opacification of the corneal stroma ORPHA:2989
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Corneal opacity, Aplasia/Hypoplasia of the iris, Persistent pupillary membrane ORPHA:1067
Microphthalmia, Isolated 2
Opacification of the corneal stroma OMIM:610093
Nephronophthisis 2
Nephronophthisis, Enlarged kidney, Renal cortical microcysts, Chronic tubulointerstitial nephriti... OMIM:602088
Reynolds Syndrome
Gastroesophageal reflux, Xerostomia, Dysphagia, Abnormal gastric mucosa morphology ORPHA:779
Sialidosis Type 2
Corneal opacity, Splenomegaly, Hepatomegaly, Nephropathy, Ascites ORPHA:87876
Corneal Dystrophy, Fuchs Endothelial, 1
Descemet Membrane Folds, Corneal dystrophy, Corneal guttata, Corneal stromal edema, Corneal degen... OMIM:136800
Chronic Intestinal Pseudoobstruction
Pyloric stenosis, Intestinal malrotation, Abnormal intestine morphology ORPHA:2978
Megalocornea
Corneal arcus, Iridodonesis, Cataract, Astigmatism, Lens subluxation, Mosaic corneal dystrophy, D... OMIM:309300
Corneal Dystrophy, Posterior Polymorphous, 1
Band keratopathy, Polymorphous posterior corneal dystrophy, Anterior synechiae of the anterior ch... OMIM:122000
Congenital Hereditary Endothelial Dystrophy Type Ii
Irregular astigmatism, Increased corneal thickness, Abnormal Descemet membrane morphology, Cornea... ORPHA:293603
Sea-Blue Histiocyte Disease
Cirrhosis, Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia OMIM:269600
Tyrosinemia Type 1
Generalized aminoaciduria, Hepatocellular carcinoma, Splenomegaly, Hepatomegaly ORPHA:882
Corneal Endothelial Dystrophy
Congenital corneal dystrophy, Increased corneal thickness, Opacification of the corneal stroma, A... OMIM:217700
Lcat Deficiency
Proteinuria, Acute kidney injury, Decreased glomerular filtration rate, Corneal opacity, Hemolyti... ORPHA:650
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
Granular Corneal Dystrophy Type Ii
Subepithelial corneal opacities, Granular corneal dystrophy, Corneal crystals, Central opacificat... ORPHA:98963
Beta-Thalassemia, Dominant Inclusion Body Type
Microcytic anemia, Erythrocyte inclusion bodies, Decreased mean corpuscular hemoglobin concentrat... OMIM:603902
Immunodeficiency 48
Splenomegaly, Hepatomegaly OMIM:269840
Nephronophthisis 19
Nephronophthisis, Cholestasis, Bile duct proliferation, Splenomegaly, Hepatomegaly, Stage 5 chron... OMIM:616217
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly OMIM:619175
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Splenomegaly, Hepatomegaly OMIM:606445
Immunodeficiency 16
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly OMIM:615593
Immunodeficiency 104
Lymphadenopathy, T lymphocytopenia, Splenomegaly, Hepatomegaly OMIM:608971
Autosomal Dominant Polycystic Kidney Disease
Enlarged kidney, Pyelonephritis, Renal cyst, Nephrolithiasis, Pancreatic cysts, Hematuria, Decrea... ORPHA:730
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly, Recurrent urinary tract infections, Lymp... OMIM:618495
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Decreased mean corpuscular hemoglobin concentration, Sickled ... ORPHA:90039
Trimethylaminuria
Neutropenia, Anemia, Splenomegaly, Trimethylaminuria OMIM:602079
Anterior Segment Dysgenesis 6
Developmental glaucoma, Abnormal Descemet membrane morphology, Corneal opacity, Posterior synechi... OMIM:617315
Congenital Rubella Syndrome
Cataract, Corneal opacity, Splenomegaly, Hepatomegaly, Jaundice, Anemia, Aplasia/Hypoplasia of th... ORPHA:290
Peters Anomaly
Subcapsular cataract, Anterior synechiae of the anterior chamber, Developmental glaucoma, Peters ... ORPHA:708
Congenital Corneal Opacities, Cornea Guttata, And Corectopia
Corneal opacity, Ectopia pupillae OMIM:608484
Amyloidosis, Familial Visceral
Nephrotic syndrome, Hematuria, Cholestasis, Proteinuria, Splenomegaly, Hepatomegaly, Nephropathy OMIM:105200
Erythroleukemia, Familial, Susceptibility To
Leukemia, Acute myeloid leukemia, Splenomegaly, Hepatomegaly, Anemia, Erythroid hyperplasia, Thro... OMIM:133180
Hyperbilirubinemia, Shunt, Primary
Splenomegaly, Hepatomegaly, Jaundice, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequat... OMIM:237800
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Anemia, Splenomegaly, Thrombocytopenia ORPHA:231393
Anterior Segment Dysgenesis 7
Sclerocornea, Microcornea, Cataract, Ocular anterior segment dysgenesis, Buphthalmos OMIM:269400
Cataract 47
Glycosuria, Microcornea, Cataract OMIM:612018
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231242
Intrinsic Factor Deficiency
Absence of intrinsic factor, Malabsorption OMIM:261000
Serrated Polyposis Syndrome
Colorectal polyposis, Neoplasm of the large intestine, Biliary tract neoplasm, Ovarian neoplasm, ... ORPHA:157798
Limbal Stem Cell Deficiency
Corneal perforation, Corneal scarring, Opacification of the corneal epithelium, Cornea verticilla... ORPHA:171673
Hypertriglyceridemia, Transient Infantile
Hepatic steatosis, Hepatic fibrosis, Splenomegaly, Hepatomegaly OMIM:614480
Keratoendotheliitis Fugax Hereditaria
Opacification of the corneal stroma, Conjunctival hyperemia, Keratitis OMIM:148200
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Corneal opacity, Developmental cataract, Hypospadias, Micropenis OMIM:618815
Granular Corneal Dystrophy Type I
Subepithelial corneal opacities, Central corneal dystrophy, Corneal crystals, Central opacificati... ORPHA:98962
Syndromic Recessive X-Linked Ichthyosis
Unilateral renal agenesis, Corneal opacity, Acute leukemia, Renal insufficiency ORPHA:281090
Galactosemia Iii
Splenomegaly, Hepatomegaly, Jaundice, Aminoaciduria, Galactosuria OMIM:230350
Fuchs Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Corneal opacity, Reduced number of corneal endothelial c... ORPHA:98974
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Hemolytic anemia, Lymphad... ORPHA:444463
Corneal Dystrophy, Meesmann, 1
Corneal dystrophy, Punctate opacification of the cornea OMIM:122100
Mu-Heavy Chain Disease
Splenomegaly, Hepatomegaly, Abnormal B cell count, Anemia, Bence Jones Proteinuria, Lymphadenopat... ORPHA:100024
Kaposiform Lymphangiomatosis
Enlarged kidney, Hepatosplenomegaly, Lymphangioma, Pancreatic cysts, Splenomegaly, Abnormal splee... ORPHA:464329
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Splenomegaly, Hepatomegaly, Neutropenia, Anemia, Thrombocytopenia, Extramedullary hem... OMIM:615285
Macular Corneal Dystrophy
Punctate opacification of the cornea, Hyperopic astigmatism, Decreased corneal thickness, Corneal... ORPHA:98969
Anterior Segment Dysgenesis 5
Anterior synechiae of the anterior chamber, Developmental cataract, Hypoplasia of the iris, Poste... OMIM:604229
Immunodeficiency 57 With Autoinflammation
Diarrhea, Gastritis, Perianal abscess, Inflammation of the large intestine OMIM:618108
Mucopolysaccharidosis-Plus Syndrome
Enlarged kidney, Leukopenia, Bone marrow hypocellularity, Nephrotic syndrome, Proteinuria, Spleno... OMIM:617303
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Enlarged kidney ORPHA:90301
Encephalopathy Due To Prosaposin Deficiency
Splenomegaly, Hepatomegaly ORPHA:139406
Autoinflammation With Episodic Fever And Lymphadenopathy
Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Hepatomegaly, Lymphadenopathy OMIM:618852
Ichthyosis, X-Linked
Opacification of the corneal stroma OMIM:308100
Gómez-López-Hernández Syndrome
Corneal opacity ORPHA:1532
Neonatal Severe Primary Hyperparathyroidism
Aminoaciduria, Splenomegaly, Hepatomegaly ORPHA:417
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Splenomegaly OMIM:179700
Mucolipidosis Iv
Opacification of the corneal stroma, Corneal opacity, Abnormal abdomen morphology OMIM:252650
Tyrosinemia, Type I
Enlarged kidney, Nephrocalcinosis, Glomerular sclerosis, Renal Fanconi syndrome, Ascites, Pancrea... OMIM:276700
Corneal Dystrophy, Fuchs Endothelial, 6
Corneal dystrophy, Abnormal Descemet membrane morphology, Corneal guttata, Corneal stromal edema,... OMIM:613270
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Nephrotic syndrome, Proteinuria, Macronodular cirrhosis, Mucopolysacchariduria, Opacification of ... OMIM:215250
Scheie Syndrome
Corneal opacity, Splenomegaly, Hepatomegaly, Mucopolysacchariduria ORPHA:93474
Multicentric Carpotarsal Osteolysis Syndrome
Proteinuria, Corneal opacity, Bilateral renal atrophy, Renal insufficiency, Stage 5 chronic kidne... OMIM:166300
Epithelial Recurrent Erosion Dystrophy
Irregular astigmatism, Subepithelial corneal opacities, Corneal dystrophy, Corneal scarring, Kera... ORPHA:293381
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Hepatomegaly, Jaundice, Neutropenia, Anemia, Lymphadenopathy, Thr... OMIM:603552
Immunodeficiency 84
Splenomegaly, B lymphocytopenia OMIM:619437
Anterior Segment Dysgenesis 1
Microcornea, Peters anomaly, Ocular anterior segment dysgenesis, Opacification of the corneal str... OMIM:107250
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Corneal opacity ORPHA:2370
Isolated Optic Nerve Hypoplasia/Aplasia
Corneal opacity, Vesicoureteral reflux, Aplasia/Hypoplasia of the iris ORPHA:137902
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Ureteral duplication, Hydronephrosis, Cataract, Lipid accumulation in hepatocyte... OMIM:608836
Posterior Polymorphous Corneal Dystrophy
Anterior synechiae of the anterior chamber, Increased corneal curvature, Uveal ectropion, Abnorma... ORPHA:98973
Autosomal Dominant Keratitis
Microcornea, Cataract, Aniridia, Abnormality of the corneal limbus, Hypoplastic iris stroma, Kera... ORPHA:2334
Cornea Plana 2, Autosomal Recessive
Flat cornea, Corneal arcus, Decreased corneal thickness OMIM:217300
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Splenomegaly, Hemolytic anemia ORPHA:228312
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Splenomegaly, Hepatomegaly OMIM:618541
Corneal Dystrophy, Fuchs Endothelial, 2
Corneal guttata, Corneal dystrophy, Corneal degeneration OMIM:610158
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Hydronephrosis, Enlarged kidney, Urethral atresia OMIM:314390
Acrocephalopolydactylous Dysplasia
Enlarged kidney, Cystic renal dysplasia, Ascites, Hepatomegaly, Pancreatic fibrosis, Polysplenia,... OMIM:200995
Rutherfurd Syndrome
Opacification of the corneal stroma, Corneal dystrophy OMIM:180900
Alpha-Mannosidosis
Cataract, Corneal opacity, Splenomegaly, Hepatomegaly ORPHA:61
Galactosialidosis
Opacification of the corneal stroma, Hepatosplenomegaly, Conjunctival telangiectasia, Visceromegaly OMIM:256540
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Mediastinal lymphadenopathy ORPHA:66661
H Syndrome
Microcytic anemia, Enlarged kidney, Corneal arcus, Hepatosplenomegaly, Histiocytosis, Micropenis,... ORPHA:168569
Hypereosinophilic Syndrome, Idiopathic
Eosinophilia, Myeloproliferative disorder, Splenomegaly, Hepatomegaly OMIM:607685
Brittle Cornea Syndrome 2
Keratoglobus, Sclerocornea, Decreased corneal thickness, Flat cornea, Keratoconus, Megalocornea OMIM:614170
Esophageal Ring, Lower
Hiatus hernia, Dysphagia OMIM:133240
Autosomal Recessive Polycystic Kidney Disease
Hepatoblastoma, Cholestasis, Cholangitis, Polycystic kidney dysplasia, Recurrent urinary tract in... ORPHA:731
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Proteinuria, Renal hypoplasia, Chronic kidney disease, Tubulointerstitial fibrosis, Anemia, Renal... OMIM:613092
Congenital Primary Aphakia
Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea ORPHA:83461
Anterior Segment Dysgenesis 2
Sclerocornea, Microcornea, Cataract, Congenital aphakia, Peters anomaly, Anterior segment of eye ... OMIM:610256
Mucolipidosis Type Iii
Corneal opacity ORPHA:577
Portal Hypertension, Noncirrhotic, 1
Portal hypertension, Hepatomegaly, Splenomegaly OMIM:617068
Alpha-Thalassemia
Cholelithiasis, Microcytic anemia, Splenomegaly, Jaundice, Anemia, Hemolytic anemia, Abnormal hem... ORPHA:846
Fish-Eye Disease
Opacification of the corneal stroma OMIM:136120
Amoebic Keratitis
Corneal ulceration, Abnormal anterior chamber morphology, Abnormal cornea morphology, Corneal per... ORPHA:67043
Mucopolysaccharidoses, Unclassified Types
Opacification of the corneal stroma, Mucopolysacchariduria OMIM:252700
Immunodeficiency 69
Pancytopenia, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Splenomegaly, Anemia OMIM:618963
Anemia, Hypochromic Microcytic, With Iron Overload 2
Poikilocytosis, Splenomegaly, Hepatomegaly, Anemia, Decreased mean corpuscular volume, Hypochromia OMIM:615234
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Splenomegaly, Jaundice, Reticulocytosis, Anemia of inadequate production OMIM:224100
Splenoportal Vascular Anomalies
Splenomegaly, Anomalous splenoportal venous system, Ascites, Cirrhosis, Hepatic fibrosis OMIM:271500
Congenital Anomalies Of Kidney And Urinary Tract 2
Cystic renal dysplasia, Nephrotic syndrome, Renal sarcoma, Renal hypoplasia, Hydronephrosis, Mult... OMIM:143400
Sialidosis Type 1
Urinary excretion of sialylated oligosaccharides, Cataract, Corneal opacity, Splenomegaly, Increa... ORPHA:812
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Abnormality of the ureter, Renal hypoplasia/aplasia, Splenomegaly, Hypoplasia of penis, Anemia, A... ORPHA:1046
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Duodenal ulcer, Gastric ulcer, Esophageal ulceration OMIM:618372
Glycogen Storage Disease Ib
Enlarged kidney, Nephrolithiasis, Proteinuria, Decreased glomerular filtration rate, Hepatomegaly... OMIM:232220
Mevalonic Aciduria
Cataract, Splenomegaly ORPHA:29
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal hypertension, Hepatomegaly, Splenomegaly OMIM:610293
Bilateral Acute Depigmentation Of The Iris
Abnormal iris pigmentation, Abnormal anterior chamber morphology, Iris pigment dispersion, Abnorm... ORPHA:69736
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Unilateral renal agenesis, Corneal opacity, Aniridia, Developmental glaucoma ORPHA:1064
Glycogen Storage Disease Ia
Enlarged kidney, Nephrolithiasis, Proteinuria, Decreased glomerular filtration rate, Hepatomegaly... OMIM:232200
Corneal Dystrophy, Thiel-Behnke Type
Juvenile epithelial corneal dystrophy, Corneal scarring, Corneal dystrophy OMIM:602082
Alpha-Mannosidosis, Adult Form
Pancytopenia, Hepatosplenomegaly, Oligosacchariduria, Cataract, Corneal opacity ORPHA:309288
Sclerocornea, Autosomal Dominant
Sclerocornea OMIM:181700
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cataract, Corneal opacity, Left ventricular hypertrophy OMIM:613153
Autoimmune Lymphoproliferative Syndrome, Type Iii
Decreased proportion of memory B cells, Hepatosplenomegaly, Stage 5 chronic kidney disease, Nephr... OMIM:615559
Herpes Simplex Virus Stromal Keratitis
Descemet Membrane Folds, Corneal perforation, Herpetiform corneal ulceration, Corneal stromal ede... ORPHA:137599
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:86893
Cataract 1, Multiple Types
Developmental cataract, Microcornea, Pulverulent cataract, Nuclear cataract, Posterior subcapsula... OMIM:116200
Diaphanospondylodysostosis
Enlarged kidney, Cystic renal dysplasia, Nephrogenic rest, Abnormal liver lobulation, Nephroblast... OMIM:608022
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Monocytosis, Leukemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatomegaly, Neu... OMIM:614470
Multiple Sulfatase Deficiency
Cataract, Corneal opacity, Splenomegaly, Hepatomegaly, Mucopolysacchariduria ORPHA:585
Lymphoid Interstitial Pneumonia
Keratoconjunctivitis sicca, Mediastinal lymphadenopathy, Hepatomegaly, Enlarged kidney ORPHA:79128
Immunodeficiency, Common Variable, 12, With Autoimmunity
Atrophic gastritis OMIM:616576
Immunodeficiency 76
T lymphocytopenia, Splenomegaly, B lymphocytopenia, Lymphadenopathy, Lymphopenia OMIM:619164
Paternal Uniparental Disomy Of Chromosome 1
Enlarged kidney, Proteinuria, Macroscopic hematuria, Membranoproliferative glomerulonephritis, Ep... ORPHA:251004
Juvenile Sialidosis Type 2
Hepatosplenomegaly, Cataract, Corneal opacity, Visceromegaly, Hepatomegaly, Abnormality of the ki... ORPHA:93399
Igg4-Related Kidney Disease
Proteinuria, Hydronephrosis, Membranous nephropathy, Renal interstitial immunoglobulin deposits, ... ORPHA:449395
Coproporphyria, Hereditary
Splenomegaly, Hepatomegaly, Jaundice, Increased urinary porphobilinogen, Elevated urinary delta-a... OMIM:121300
Cutis Laxa, Autosomal Dominant 3
Corneal opacity, Unilateral renal agenesis, Developmental cataract OMIM:616603
Dyschondrosteosis-Nephritis Syndrome
Corneal opacity, Nephropathy, Hematuria, Proteinuria ORPHA:1765
Brachyolmia Type 1, Toledo Type
Opacification of the corneal stroma, Increased urinary disaccharide excretion OMIM:271630
Anemia, Congenital Dyserythropoietic, Type Ib
Anisocytosis, Splenomegaly, Hepatomegaly, Jaundice, Anemia, Erythroid hyperplasia, Reticulocytosi... OMIM:615631
Corneal Dystrophy, Fuchs Endothelial, 4
Corneal guttata, Corneal dystrophy OMIM:613268
Wilson Disease
Hepatic steatosis, Cirrhosis, Kayser-Fleischer ring, Splenomegaly, Hepatomegaly, Jaundice, Anemia... ORPHA:905
Erythrokeratodermia Variabilis
Cataract, Corneal opacity ORPHA:317
Hurler-Scheie Syndrome
Corneal opacity, Splenomegaly, Hepatomegaly, Heparan sulfate excretion in urine, Dermatan sulfate... OMIM:607015
Immunodeficiency 52
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenopathy, Inc... OMIM:617514
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Splenomegaly, Hepatomegaly, Anemia, Hypersplenism, Thrombocytopenia OMIM:610539
Olmsted Syndrome 1
Opacification of the corneal stroma, Corneal opacity OMIM:614594
Harderoporphyria
Red urine, Splenomegaly, Hepatomegaly, Increased urinary porphobilinogen, Increased urine hardero... OMIM:618892
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome
Diarrhea, Gastritis ORPHA:2575
Congenital Bile Acid Synthesis Defect Type 1
Splenomegaly, Hepatomegaly, Jaundice, Biliary tract abnormality, Cirrhosis, Neonatal cholestatic ... ORPHA:79301
Alport Syndrome 2, Autosomal Recessive
Nephrotic syndrome, Hematuria, Proteinuria, Cataract, Anterior lenticonus, Thickened glomerular b... OMIM:203780
Cystinosis
Portal hypertension, Renal tubular dysfunction, Proteinuria, Corneal opacity, Aminoaciduria, Neph... ORPHA:213
B-Cell Expansion With Nfkb And T-Cell Anergy
Splenomegaly, Increased B cell count OMIM:616452
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Immunodeficiency 14A, Autosomal Dominant
T lymphocytopenia, Splenomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B... OMIM:615513
Gray Platelet Syndrome
Splenomegaly, Thrombocytopenia ORPHA:721
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Exercise-induced hemolysis, Splenomegaly, Hepatomegaly, Jaundice, Increased mean ... OMIM:194380
Alpha-Heavy Chain Disease
Splenomegaly, Hepatomegaly, Anemia, Lymphadenopathy, Ascites ORPHA:100025
Niemann-Pick Disease, Type B
Splenomegaly, Hepatomegaly, Anemia, Bone-marrow foam cells, Thrombocytopenia, Sea-blue histiocytosis OMIM:607616
Atopic Keratoconjunctivitis
Corneal opacity, Keratoconjunctivitis sicca, Chemosis, Keratitis, Corneal neovascularization ORPHA:163934
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Enlarged kidney, Hepatosplenomegaly, Leukopenia, Bone marrow hypocellularity, Proteinuria, Nephro... ORPHA:505248
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Glomerulonephritis, Splenomegaly, ... OMIM:619375
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Microcornea, Astigmatism, Corneal opacity, Cataract, Myopic astigmatism OMIM:152950
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatosplenomegaly, Anisocytosis, Hepatomegaly, Jaundice, Splenomegaly, Anemia, Elevated hepatic ... OMIM:616860
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Colitis, Inflammation of the large intestine, Dysphagia, Chronic gastritis, Diarrhea OMIM:608809
Tangier Disease
Opacification of the corneal stroma, Left ventricular hypertrophy, Splenomegaly, Hepatomegaly OMIM:205400
Mucopolysaccharidosis Type 7
Mucopolysacchariduria, Corneal opacity, Splenomegaly, Hepatitis, Ascites ORPHA:584
Anemia, Congenital Dyserythropoietic, Type Ia
Poikilocytosis, Splenomegaly, Anisocytosis, Prolonged neonatal jaundice, Erythroid hyperplasia, R... OMIM:224120
Follicular Lymphoma
Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly, Abnormality of the peritoneum ORPHA:545
Ophthalmomandibulomelic Dysplasia
Corneal opacity, Megalocornea ORPHA:2741
Neuraminidase Deficiency
Urinary excretion of sialylated oligosaccharides, Vacuolated lymphocytes, Proteinuria, Cataract, ... OMIM:256550
Griscelli Syndrome Type 2
Pancytopenia, Hemophagocytosis, Splenomegaly, Hepatomegaly, Jaundice, Neutropenia, Lymphadenopath... ORPHA:79477
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic fibrosis, Splenomegaly, Hepatomegaly OMIM:616719
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Opacification of the corneal stroma OMIM:204850
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, HbH hemoglobin, Neutropenia, Acute leukemia, Thrombocytopenia ORPHA:231401
Zellweger Syndrome
Posterior embryotoxon, Hydronephrosis, Cataract, Corneal opacity, Hepatomegaly, Jaundice, Multicy... ORPHA:912
Thrombocythemia 1
Thrombocytosis, Splenomegaly OMIM:187950
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Cholestasis, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Hepatic fibrosis OMIM:619658
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Cataract, Splenomegaly, Hepatomegaly, Jaundice, Hemolytic anemia OMIM:608885
Wilson Disease
Glycosuria, Renal tubular dysfunction, Nephrolithiasis, Proteinuria, Kayser-Fleischer ring, Hyper... OMIM:277900
Congenital Sialidosis Type 2
Developmental cataract, Hepatosplenomegaly, Cataract, Corneal opacity, Abnormality of the kidney,... ORPHA:93400
Hemochromatosis, Type 2B
Splenomegaly, Hepatomegaly, Anemia, Cirrhosis, Hepatic fibrosis OMIM:613313
Progressive Familial Intrahepatic Cholestasis
Jaundice, Splenomegaly, Hepatomegaly, Cholestasis ORPHA:172
Sjogren-Larsson Syndrome
Opacification of the corneal epithelium OMIM:270200
Hodgkin Lymphoma
Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:98293
Microphthalmia, Isolated 3
Sclerocornea OMIM:611038
Immunodeficiency, Common Variable, 1
Splenomegaly, Hepatomegaly, Neutropenia in presence of anti-neutropil antibodies, Lymphadenopathy... OMIM:607594
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hepatosplenomegaly, Hemophagocytosis, Splenomegaly, Anemia, Lymphadenopathy, Thrombocytopenia OMIM:613101
Felty Syndrome
Neutropenia, Splenomegaly OMIM:134750
Dysplastic Cortical Hyperostosis
Abnormality of the urinary system, Splenomegaly, Hepatomegaly ORPHA:2204
Multiple Sulfatase Deficiency
Corneal opacity, Splenomegaly, Hepatomegaly, Mucopolysacchariduria OMIM:272200
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Sclerocornea, Microcornea, Cataract, Ectopia pupillae, Hypospadias OMIM:615877
Cholestasis-Lymphedema Syndrome
Portal hypertension, Splenomegaly, Hepatomegaly, Jaundice, Abnormality of urine homeostasis, Bili... ORPHA:1414
Peroxisome Biogenesis Disorder 5A (Zellweger)
Renal cyst, Hepatosplenomegaly, Renal cortical microcysts, Cataract, Splenomegaly, Hepatomegaly, ... OMIM:614866
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Splenomegaly, Anisocytosis, Reduced red cell pyruvate kinase level, Anemia, Prolonged neonatal ja... ORPHA:766
Corneal Dystrophy, Posterior Polymorphous, 3
Corneal guttata, Corneal dystrophy OMIM:609141
Stromme Syndrome
Accessory spleen, Sclerocornea, Microcornea, Cataract, Hydronephrosis, Peters anomaly, Bilateral ... OMIM:243605
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Enlarged kidney, Bifid ureter, Renal malrotation, Transient neutropenia, Chronic neutropenia, Cat... ORPHA:500095
Cholestasis-Lymphedema Syndrome
Splenomegaly, Hepatomegaly, Jaundice, Cirrhosis, Neonatal cholestatic liver disease OMIM:214900
Hemihyperplasia-Multiple Lipomatosis Syndrome
Enlarged kidney, Abnormality of the lymphatic system, Nephroblastoma ORPHA:276280
Spherocytosis, Type 5
Splenomegaly, Jaundice, Spherocytosis, Hemolytic anemia, Reticulocytosis OMIM:612690
Immunodeficiency 64
Hepatosplenomegaly, Abnormal CD4:CD8 ratio, Autoimmune thrombocytopenia, Autoimmune hemolytic ane... OMIM:618534
Wolfram Syndrome 2
Gastric ulcer OMIM:604928
Arteriosclerosis, Severe Juvenile
Gastric ulcer OMIM:208060
Ornithine Transcarbamylase Deficiency
Aminoaciduria, Splenomegaly ORPHA:664
Immunodeficiency, Common Variable, 2
Splenomegaly, Hepatomegaly, Follicular hyperplasia, Lymphadenopathy, Conjunctivitis OMIM:240500
Bartsocas-Papas Syndrome 2
Axillary pterygium, Corneal opacity, Popliteal pterygium, Antecubital pterygium OMIM:619339
Erythrocytosis, Familial, 8
Cholelithiasis, Normocytic anemia, Cholecystitis, Splenomegaly, Jaundice, Nonspherocytic hemolyti... OMIM:222800
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular hemoglobin concentration, Splenomegaly, Acanthocytosis, Hepatomegaly, ... OMIM:616689
Vernal Keratoconjunctivitis
Punctate keratitis, Corneal neovascularization, Abnormal cornea morphology, Abnormal conjunctiva ... ORPHA:70476
Acquired Idiopathic Sideroblastic Anemia
Pancytopenia, Hypochromic anemia, Leukocytosis, Granulocytopenia, Normocytic anemia, Bone marrow ... ORPHA:75564
Immunodeficiency 32B
Splenomegaly OMIM:226990
Cryoglobulinemic Vasculitis
Viral hepatitis, Abnormality of the liver, Hematuria, Proteinuria, Splenomegaly, Hepatomegaly, Ke... ORPHA:91138
Coloboma, Ocular, Autosomal Dominant
Corneal opacity, Vesicoureteral reflux, Peters anomaly OMIM:120200
Fucosidosis
Abnormality of the gallbladder, Corneal opacity, Hepatomegaly, Mucopolysacchariduria, Cardiomegaly ORPHA:349
Bile Acid Synthesis Defect, Congenital, 5
Portal hypertension, Splenomegaly, Hepatomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi... OMIM:616278
Endocrine-Cerebroosteodysplasia
Enlarged kidney, Micropenis, Hyperechogenic kidneys, Microphallus, Hypospadias OMIM:612651
Scheie Syndrome
Corneal opacity OMIM:607016
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Autoimmune thrombocytopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper... OMIM:300853
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Shallow anterior chamber, Persistent pupillary membrane, Microcornea, Cataract, Corneal opacity, ... OMIM:221900
Aicardi-Goutieres Syndrome 7
Nephrotic syndrome, Thrombocytopenia, Hepatomegaly, Splenomegaly OMIM:615846
Hemoglobin E Disease
Splenomegaly, Increased red blood cell count, Abnormal hemoglobin, Anemia of inadequate productio... ORPHA:2133
Schimke Immuno-Osseous Dysplasia
Bone marrow hypocellularity, Proteinuria, Abnormal proportion of naive CD4 T cells, Corneal opaci... ORPHA:1830
Sclerosing Cholangitis, Neonatal
Biliary cirrhosis, Sclerosing cholangitis, Portal hypertension, Cholestasis, Splenomegaly, Hepato... OMIM:617394
Al-Gazali Syndrome
Sclerocornea, Hydronephrosis, Corneal opacity OMIM:609465
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Hypoplastic anemia, Splenomegaly, Abnormality of ne... ORPHA:2585
Osteopetrosis, Autosomal Recessive 8
Anemia, Splenomegaly, Hepatomegaly, Thrombocytopenia OMIM:615085
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Pancytopenia, Splenomegaly OMIM:614979
Cold Agglutinin Disease
Abnormal urinary color, Splenomegaly, Hepatomegaly, Hemolytic anemia, Lymphadenopathy ORPHA:56425
Beckwith-Wiedemann Syndrome
Hepatoblastoma, Nephrocalcinosis, Renal cortical cysts, Enlarged kidney, Nephrolithiasis, Pancrea... OMIM:130650
Congenital Disorder Of Glycosylation, Type Iio
Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Prolonged neonatal jaundice, Cholestatic liver di... OMIM:616828
Immunodeficiency 27A
Hepatosplenomegaly, Leukocytosis, Histiocytosis, Thrombocytosis, Splenomegaly, Enlarged mesenteri... OMIM:209950
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Leukopenia, Micropenis, Hydronephrosis, Astigmatism, Corneal opacity, Hepatomegaly, Duplicated co... OMIM:301056
Recessive X-Linked Ichthyosis
Opacification of the corneal stroma ORPHA:461
Cryohydrocytosis
Reticulocytosis, Splenomegaly, Hemolytic anemia, Stomatocytosis OMIM:185020
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatic steatosis, Nephrocalcinosis, Enlarged kidney, Nephrolithiasis, Proteinuria, Chronic neutr... ORPHA:79259
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Anemia, Abnormality of the lymph no... OMIM:612840
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Renal cyst, Micropenis, Hydronephrosis, Renal dysplasia, Opacification of the corneal stroma OMIM:615287
Tangier Disease
Hepatosplenomegaly, Corneal opacity, Orange discolored tonsils, Anemia, Chronic noninfectious lym... ORPHA:31150
Norrie Disease
Cataract, Shallow anterior chamber, Opacification of the corneal stroma, Hypoplasia of the iris OMIM:310600
Gaucher Disease Type 2
Splenomegaly, Hepatomegaly ORPHA:77260
Short Syndrome
Abnormal anterior chamber morphology, Hypoplasia of the iris, Posterior embryotoxon, Corneal opac... ORPHA:3163
Familial Dysautonomia
Heterochromia iridis, Corneal opacity, Abnormality of the kidney, Abnormal pupil morphology, Glom... ORPHA:1764
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis OMIM:617441
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Cholelithiasis, Normocytic anemia, Cholecystitis, Splenomegaly, Jaundice, Nonspherocytic hemolyti... OMIM:235700
Autoimmune Lymphoproliferative Syndrome
Eosinophilia, Coombs-positive hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocy... OMIM:601859
Pfapa Syndrome
Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:42642
X-Linked Sideroblastic Anemia
Anemia, Splenomegaly ORPHA:75563
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Corneal opacity OMIM:618961
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Crohn's disease, Lymphocytic infiltration of the colorectal mucosa, Atrophic gastritis, Diarrhea OMIM:616100
Pseudo-Torch Syndrome 1
Cataract, Splenomegaly, Hepatomegaly, Jaundice, Renal insufficiency, Opacification of the corneal... OMIM:251290
Xp22.3 Microdeletion Syndrome
Opacification of the corneal stroma ORPHA:1643
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Cataract, Corneal opacity, 3-Methylglutaconic aciduria ORPHA:496790
Indolent Systemic Mastocytosis
Abnormal mast cell morphology, Mastocytosis, Splenomegaly, Hepatomegaly, Increased proportion of ... ORPHA:98848
Cholestasis, Progressive Familial Intrahepatic, 3
Bile duct proliferation, Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis, Portal f... OMIM:602347
Cholesteryl Ester Storage Disease
Cirrhosis, Splenomegaly, Hepatomegaly, Jaundice ORPHA:75234
Aicardi-Goutieres Syndrome 4
Pancytopenia, Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Thrombocytopenia OMIM:610333
Overhydrated Hereditary Stomatocytosis
Splenomegaly, Hepatomegaly, Jaundice, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185000
Microphthalmia, Isolated, With Coloboma 9
Sclerocornea, Microcornea, Iris coloboma, Ocular anterior segment dysgenesis OMIM:615145
Babesiosis
Leukopenia, Splenomegaly, Hepatomegaly, Jaundice, Hemolytic anemia, Renal insufficiency, Thromboc... ORPHA:108
Mietens Syndrome
Sclerocornea, Microcornea, Cataract, Corneal opacity ORPHA:2557
Corneal Dystrophy, Posterior Amorphous
Iris coloboma, Ectopia pupillae, Corneal dystrophy OMIM:612868
Lipodystrophy, Congenital Generalized, Type 3
Hepatic steatosis, Hepatosplenomegaly, Hepatomegaly, Splenomegaly OMIM:612526
Spherocytosis, Type 4
Splenomegaly, Jaundice, Spherocytosis, Hemolytic anemia, Reticulocytosis OMIM:612653
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Corneal crystals, Stage 5 chronic kidney disease, Proteinuria OMIM:219900
Lymphoproliferative Syndrome, X-Linked, 2
Pancytopenia, Hemophagocytosis, Splenomegaly, Hepatomegaly, Hepatitis, Aplastic anemia OMIM:300635
Alport Syndrome
Proteinuria, Mesangial hypercellularity, Thin glomerular basement membrane, Microscopic hematuria... ORPHA:63
Overhydrated Hereditary Stomatocytosis
Decreased mean corpuscular hemoglobin concentration, Splenomegaly, Anisocytosis, Abnormal mean co... ORPHA:3203
Osteopetrosis, Autosomal Recessive 4
Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Anemia, Reticulocytosis, Thrombocytopenia OMIM:611490
Ichthyosis, Congenital, Autosomal Recessive 11
Corneal opacity OMIM:602400
Schnitzler Syndrome
Leukocytosis, Splenomegaly, Hepatomegaly, Anemia, Lymphadenopathy ORPHA:37748
Bronchogenic Cyst
Abnormal stomach morphology, Abnormal esophagus morphology, Dysphagia ORPHA:2357
Infantile Sialic Acid Storage Disease
Nephrotic syndrome, Vacuolated lymphocytes, Splenomegaly, Hepatomegaly, Ascites, Cardiomegaly OMIM:269920
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Micropenis, Enlarged kidney, Renal dysplasia, Polycystic kidney dysplasia OMIM:613091
Griscelli Syndrome
Leukopenia, Bone marrow hypocellularity, Splenomegaly, Hepatomegaly, Jaundice, Abnormality of neu... ORPHA:381
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Keratitis, Corneal opacity, Conjunctivitis OMIM:602562
Hurler Syndrome
Hepatosplenomegaly, Corneal opacity, Splenomegaly, Hepatomegaly, Urinary glycosaminoglycan excret... OMIM:607014
Spherocytosis, Type 1
Cholelithiasis, Splenomegaly, Jaundice, Spherocytosis, Hemolytic anemia, Reticulocytosis OMIM:182900
Free Sialic Acid Storage Disease
Nephrotic syndrome, Proteinuria, Splenomegaly, Hepatomegaly, Iris hypopigmentation, Ascites ORPHA:834
Lymphoproliferative Syndrome 2
Pancytopenia, Hepatosplenomegaly, Hemophagocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, ... OMIM:615122
Schimke Immunoosseous Dysplasia
Nephrotic syndrome, Proteinuria, Astigmatism, Thrombocytopenia, Neutropenia, Anemia, Focal segmen... OMIM:242900
Autoimmune Lymphoproliferative Syndrome, Type Iia
Eosinophilia, Nephrotic syndrome, Coombs-positive hemolytic anemia, Autoimmune hemolytic anemia, ... OMIM:603909
Portal Hypertension, Noncirrhotic, 2
Portal hypertension, Splenomegaly, Hepatomegaly, Nodular regenerative hyperplasia of liver, Ascit... OMIM:619463
Chronic Myeloid Leukemia
Leukocytosis, Thrombocytosis, Myeloproliferative disorder, Splenomegaly, Thrombocytopenia, Abnorm... ORPHA:521
Osteoporosis-Pseudoglioma Syndrome
Corneal opacity ORPHA:2788
Spherocytosis, Type 2
Splenomegaly, Acanthocytosis, Jaundice, Spherocytosis, Hemolytic anemia, Reticulocytosis OMIM:616649
Elliptocytosis 1
Hemolytic anemia, Elliptocytosis, Splenomegaly, Jaundice OMIM:611804
Gaucher Disease, Type Iiic
Pancytopenia, Splenomegaly, Hepatomegaly, Opacification of the corneal stroma, Cardiomegaly OMIM:231005
Lowry-Maclean Syndrome
Abnormality of the abdominal organs, Developmental glaucoma, Corneal opacity, Megalocornea, Hypos... ORPHA:2409
Sea-Blue Histiocytosis
Splenomegaly, Hepatomegaly, Mediastinal lymphadenopathy, Thrombocytopenia, Sea-blue histiocytosis ORPHA:158029
Generalized Eruptive Keratoacanthoma
Keratoconjunctivitis sicca, Abnormal cornea morphology, Conjunctivitis ORPHA:411777
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Pancytopenia, Hepatosplenomegaly, Hemophagocytosis, Acute myeloid leukemia, Splenomegaly, Neutrop... ORPHA:158057
Classic Mycosis Fungoides
Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:2584
Beckwith-Wiedemann Syndrome
Exocrine pancreatic insufficiency, Hepatoblastoma, Enlarged kidney, Multiple renal cysts, Nephrol... ORPHA:116
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Splenomegaly, Hepatomegaly, Neutropenia, Anemia, Pancreatitis, Renal insufficiency, Thrombocytopenia ORPHA:79312
Polycythemia Vera
Leukocytosis, Increased hemoglobin, Increased hematocrit, Thrombocytosis, Splenomegaly, Increased... OMIM:263300
Bartsocas-Papas Syndrome
Corneal opacity, Popliteal pterygium, Renal hypoplasia/aplasia ORPHA:1234
Gm1-Gangliosidosis, Type Iii
Opacification of the corneal stroma OMIM:230650
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Renal cyst, Portal hypertension, Buphthalmos, Cholestasis, Pancreatic cysts, Developmental glauco... OMIM:610199
Hereditary Bullous Dystrophy, Macular Type
Cataract, Corneal opacity ORPHA:1867
Farber Disease
Hepatosplenomegaly, Intrahepatic cholestasis with episodic jaundice, Abnormal conjunctiva morphol... ORPHA:333
Mosaic Trisomy 9
Horseshoe kidney, Hydronephrosis, Corneal opacity, Abnormal liver lobulation, Hypoplasia of penis... ORPHA:99776
Peroxisome Biogenesis Disorder 2A (Zellweger)
Opacification of the corneal stroma, Cataract, Hepatomegaly, Intrahepatic biliary dysgenesis, Jau... OMIM:214110
Dermochondrocorneal Dystrophy
Anterior cortical cataract, Subepithelial corneal opacities, Corneal dystrophy OMIM:221800
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Hemophagocytosis, Splenomegaly, Hepatomegaly, Neutropenia, Lymphadenopathy, Aplasti... OMIM:308240
Ectodermal Dysplasia-Blindness Syndrome
Corneal dystrophy, Sclerocornea, Microcornea, Cataract, Keratoconjunctivitis sicca ORPHA:1806
Encephalocraniocutaneous Lipomatosis
Abnormal anterior chamber morphology, Hypoplasia of the iris, Sclerocornea, Hydronephrosis, Limba... OMIM:613001
Alg9-Cdg
Enlarged kidney, Ureteral hypoplasia, Periportal fibrosis, Hydronephrosis, Hepatomegaly, Abnormal... ORPHA:79328
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neu... ORPHA:231154
Meacham Syndrome
Enlarged kidney, Horseshoe kidney, Accessory spleen OMIM:608978
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Cholelithiasis, Cholecystitis, Splenomegaly, Jaundice, Impaired neutrophil bactericidal activity,... OMIM:613470
Mucopolysaccharidosis, Type Vii
Corneal opacity, Splenomegaly, Hepatomegaly, Urinary glycosaminoglycan excretion, Heparan sulfate... OMIM:253220
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Splenomegaly, Thrombocytopenia, Hemolytic anemia OMIM:314050
Autoinflammation With Arthritis And Dyskeratosis
Punctate keratitis, Hypereosinophilia, Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly, K... OMIM:617388
Hemochromatosis, Type 2A
Cirrhosis, Splenomegaly, Hepatomegaly OMIM:602390
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Gastric hypertrophy, Gastric ulcer OMIM:161700
Beta-Thalassemia
Microcytic anemia, Cholelithiasis, Splenomegaly, Hepatomegaly, Anemia, Hepatitis, Abnormal hemogl... ORPHA:848
Oculocerebral Hypopigmentation Syndrome, Cross Type
Ureteral stenosis, Cataract, Corneal opacity, Anemia, Ocular albinism, Abnormality of the urinary... ORPHA:2719
Gaucher Disease, Type Iii
Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly OMIM:231000
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Portal hypertension, Cholestasis, Splenomegaly, Hepatomegaly, Jaundice ORPHA:59303
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Splenomegaly, Neutropenia, Lymphadenopathy... OMIM:150550
Omenn Syndrome
Eosinophilia, Splenomegaly, Hepatomegaly, Severe B lymphocytopenia, Anemia, Lymphadenopathy, B ly... OMIM:603554
Caroli Disease
Cholelithiasis, Biliary cirrhosis, Portal hypertension, Leukocytosis, Cholestasis, Cholangitis, C... ORPHA:53035
Rodrigues Blindness
Sclerocornea, Microcornea OMIM:268320
Mucopolysaccharidosis Type 6
Opacification of the corneal stroma, Splenomegaly, Mucopolysacchariduria ORPHA:583
Neurotrophic Keratopathy
Corneal ulceration, Corneal perforation, Corneal scarring, Astigmatism, Corneal stromal edema, Re... ORPHA:137596
Persistent Hyperplastic Primary Vitreous
Shallow anterior chamber, Developmental cataract, Persistent pupillary membrane, Microcornea, Cat... ORPHA:91495
Wolfram Syndrome
Constipation, Gastric ulcer, Gastrointestinal hemorrhage, Malabsorption ORPHA:3463
Short Fifth Metacarpals-Insulin Resistance Syndrome
Spherocytosis, Splenomegaly ORPHA:66518
Hepatoportal Sclerosis
Intrahepatic portal vein sclerosis, Leukopenia, Portal hypertension, Periportal fibrosis, Splenom... ORPHA:64743
Osteopetrosis, Autosomal Dominant 3
Anemia, Splenomegaly, Hepatomegaly OMIM:618107
Schimmelpenning-Feuerstein-Mims Syndrome
Corneal opacity, Horseshoe kidney, Hyperphosphaturia OMIM:163200
Primary Myelofibrosis
Pancytopenia, Portal hypertension, Hepatosplenomegaly, Leukocytosis, Thrombocytosis, Splenomegaly... ORPHA:824
Sickle Cell Anemia
Cholelithiasis, Increased red cell sickling tendency, Leukocytosis, Hematuria, Splenomegaly, Hepa... OMIM:603903
Coach Syndrome 1
Unilateral renal agenesis, Nephronophthisis, Renal cyst, Portal hypertension, Multiple small medu... OMIM:216360
Chromosome 8Q21.11 Deletion Syndrome
Opacification of the corneal stroma OMIM:614230
8Q21.11 Microdeletion Syndrome
Sclerocornea, Cataract, Corneal opacity, Hypoplasia of penis, Iris hypopigmentation ORPHA:284160
Neuropathy, Hereditary Sensory And Autonomic, Type Viii
Corneal ulceration, Corneal scarring OMIM:616488
Heterotaxy, Visceral, 1, X-Linked
Renal agenesis, Enlarged kidney, Horseshoe kidney, Hepatomegaly, Abdominal situs inversus, Biliar... OMIM:306955
Leishmaniasis
Pancytopenia, Abnormal macrophage morphology, Leukopenia, Splenomegaly, Hepatomegaly, Anemia, Lym... ORPHA:507
3Mc Syndrome 3
Micropenis, Penoscrotal hypospadias, Corneal opacity, Horseshoe kidney OMIM:248340
Walker-Warburg Syndrome
Microcornea, Cataract, Corneal opacity, Hypoplasia of penis, Iris coloboma ORPHA:899
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Cholecystitis, Splenomegaly, Jaundice, Chronic hemolytic anemia, Reticulocytosis OMIM:266200
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Abnormal urinary color, Splenomegaly ORPHA:90037
Oculomaxillofacial Dysostosis
Corneal opacity ORPHA:1794
Bile Acid Synthesis Defect, Congenital, 3
Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis, Hepatitis, Acholic stools, Cirrhosis OMIM:613812
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Acute pancreatitis, Hepatosplenomegaly, Lymphadenitis, Nephrotic syndrome, Splenomegaly, Recurren... OMIM:618935
Brachymesomelia-Renal Syndrome
Opacification of the corneal stroma, Renal insufficiency OMIM:113470
Microphthalmia With Brain And Digit Anomalies
Sclerocornea, Microcornea, Cataract, Iris coloboma ORPHA:139471
Ophthalmomandibulomelic Dysplasia
Opacification of the corneal stroma, Megalocornea OMIM:164900
Anemia, Congenital Dyserythropoietic, Type Iv
Schistocytosis, Reticulocytosis, Circulating nucleated red blood cells, Hepatosplenomegaly, Poiki... OMIM:613673
Macrocephaly/Autism Syndrome
Lymphopenia, Splenomegaly, Hepatomegaly OMIM:605309
Hb Bart'S Hydrops Fetalis
Abnormal hemoglobin, Anemia, Splenomegaly, Hepatomegaly ORPHA:163596
Cholestasis, Progressive Familial Intrahepatic, 2
Splenomegaly, Hepatomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel... OMIM:601847
Erythrocytosis, Familial, 1
Splenomegaly, Increased red blood cell mass, Increased hemoglobin, Increased hematocrit OMIM:133100
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Leukocytosis, Anisocytosis, Splenomegaly, Hemoglobinuria, Pro... OMIM:300908
Immunodeficiency, Common Variable, 7
Recurrent urinary tract infections, Splenomegaly OMIM:614699
Autoimmune Hemolytic Anemia
Abnormal leukocyte morphology, Abnormal urinary color, Splenomegaly, Hemolytic anemia ORPHA:98375
Immunodeficiency 54
Lymphadenopathy, Splenomegaly, Hepatomegaly, Reduced natural killer cell count OMIM:609981
Autoimmune Polyendocrine Syndrome, Type Ii
Exocrine pancreatic insufficiency, Band keratopathy, Chronic hepatitis, Cataract, Keratoconjuncti... OMIM:269200
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Bone marrow hypocellularity, Abnormal neutrophil count, Myeloproliferative disorder... ORPHA:3226
Solute carrier family 4 (anion exchanger), member 1
Splenomegaly, Acanthocytosis, Jaundice, Spherocytosis, Hemolytic anemia, Elliptocytosis, Stomatoc... OMIM:109270
Familial Cold Autoinflammatory Syndrome 2
Leukocytosis, Lymphadenopathy, Splenomegaly OMIM:611762
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Cholestasis, Chronic kidney disease, Splenomegaly, Hepatomegaly, Nephronophthisis, Hepatic fibrosis OMIM:615630
Muckle-Wells Syndrome
Nephrotic syndrome, Splenomegaly, Hepatomegaly, Renal amyloidosis, Anemia, Nephropathy, Conjuncti... ORPHA:575
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Exocrine pancreatic insufficiency, Splenomegaly, Hepatomegaly, Jaundice, Anemia, Anemia of inadeq... OMIM:612714
Caspase 8 Deficiency
Decreased CD4:CD8 ratio, Splenomegaly, Lymphadenopathy OMIM:607271
Gm1 Gangliosidosis
Hepatosplenomegaly, Corneal opacity, Splenomegaly ORPHA:354
Meckel Syndrome
Accessory spleen, Pancreatic cysts, Sclerocornea, Microcornea, Cataract, Ureteral duplication, Mu... ORPHA:564
Gaucher Disease, Type Ii
Anemia, Thrombocytopenia, Hepatomegaly, Splenomegaly OMIM:230900
Classic Hodgkin Lymphoma
Lymphadenopathy, Bone marrow hypocellularity, Splenomegaly, Hepatomegaly ORPHA:391
Mucolipidosis Type Iv
Corneal opacity ORPHA:578
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Sclerocornea, Hypoplasia of penis, Iris coloboma, Hypospadias ORPHA:77298
Lysosomal Acid Lipase Deficiency
Hepatic steatosis, Leukopenia, Portal hypertension, Periportal fibrosis, Hepatosplenomegaly, Hepa... OMIM:278000
Glycogen Storage Disease Xii
Cholelithiasis, Normocytic anemia, Cholecystitis, Splenomegaly, Jaundice, Nonspherocytic hemolyti... OMIM:611881
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hypoplasia of the iris, Splenomegaly, Hepatomegaly, Hemolytic anemia, Lymphadenopathy, Thrombocyt... ORPHA:169090
Mucopolysaccharidosis Type 1
Abnormality of the tonsils, Corneal opacity, Splenomegaly, Mucopolysacchariduria ORPHA:579
Wolman Disease
Splenomegaly, Hepatomegaly, Anemia, Bone-marrow foam cells, Ascites ORPHA:75233
Distal Monosomy 6P
Anterior synechiae of the anterior chamber, Abnormal anterior chamber morphology, Hypoplasia of t... ORPHA:96125
Beta-Thalassemia Intermedia
Cholelithiasis, Abnormality of the liver, Hepatosplenomegaly, Leukocytosis, Cirrhosis, Proximal t... ORPHA:231222
Sanjad-Sakati Syndrome
Astigmatism, Corneal opacity, Hypoplasia of penis ORPHA:2323
Lymphoproliferative Syndrome 1
Pancytopenia, Leukopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Decreased pro... OMIM:613011
Insensitivity To Pain, Congenital, With Anhidrosis
Corneal ulceration, Corneal scarring, Keratitis, Opacification of the corneal stroma, Recurrent c... OMIM:256800
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Generalized aminoaciduria, Hepatic steatosis, Portal hypertension, Periportal fibrosis, Splenomeg... OMIM:251880
Hurler Syndrome
Corneal opacity, Splenomegaly, Hepatomegaly, Mucopolysacchariduria, Abnormality of the tonsils ORPHA:93473
Hereditary Orotic Aciduria
Oroticaciduria, Abnormality of the ureter, Splenomegaly, Anemia, Aminoaciduria, Orotic acid cryst... ORPHA:30
Brittle Cornea Syndrome 1
Keratoconus, Abnormal cornea morphology, Decreased corneal thickness, Keratoglobus OMIM:229200
Glycogen Storage Disease Ixc
Bile duct proliferation, Increased hepatic glycogen content, Splenomegaly, Hepatomegaly, Cirrhosis OMIM:613027
Fetal Gaucher Disease
Pancytopenia, Splenomegaly, Hepatomegaly, Abnormality of the spleen, Thrombocytopenia ORPHA:85212
Omenn Syndrome
Abnormal lymphocyte morphology, Eosinophilia, Leukocytosis, Nephrotic syndrome, Splenomegaly, Hep... ORPHA:39041
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Hepatomegaly, Jaun... OMIM:211600
Lathosterolosis
Horseshoe kidney, Microcornea, Cataract, Hepatomegaly, Hypoplasia of penis, Intrahepatic cholesta... ORPHA:46059
Oculoauricular Syndrome
Developmental cataract, Sclerocornea, Microcornea, Cataract, Posterior embryotoxon, Ocular anteri... OMIM:612109
Axenfeld-Rieger Syndrome, Type 2
Opacification of the corneal stroma, Microcornea, Anterior chamber synechiae, Hypospadias OMIM:601499
Hypocomplementemic Urticarial Vasculitis
Hematuria, Proteinuria, Ascites, Splenomegaly, Hepatomegaly, Glomerulopathy, Lymphadenopathy, Ren... ORPHA:36412
Iridocorneal Endothelial Syndrome
Polycoria, Central heterochromia, Anterior synechiae of the anterior chamber, Heterochromia iridi... ORPHA:64734
Leprechaunism
Enlarged kidney, Nephrocalcinosis, Hypercalciuria, Long penis, Hepatomegaly, Enlarged ovaries ORPHA:508
Oculoskeletodental Syndrome
Renal agenesis, Developmental cataract, Hypercalciuria, Splenomegaly, Hepatomegaly, Mucopolysacch... OMIM:618440
Systemic-Onset Juvenile Idiopathic Arthritis
Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:85414
Mucoepithelial Dysplasia, Hereditary
Eosinophilia, Hematuria, Cataract, Keratoconjunctivitis, Opacification of the corneal stroma, Cor... OMIM:158310
Bile Acid Synthesis Defect, Congenital, 2
Intrahepatic cholestasis, Splenomegaly, Hepatomegaly, Jaundice OMIM:235555
Myelofibrosis
Myeloproliferative disorder, Splenomegaly OMIM:254450
Aniridia 1
Anterior subcapsular cataract, Hypoplasia of the iris, Cataract, Aniridia, Ectopia pupillae, Opac... OMIM:106210
Gamma-Heavy Chain Disease
Abnormal lymphocyte morphology, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenom... ORPHA:100026
Focal Dermal Hypoplasia
Horseshoe kidney, Hypoplasia of the iris, Ectopia lentis, Hydronephrosis, Corneal opacity, Multic... ORPHA:2092
Nasopalpebral Lipoma-Coloboma Syndrome
Corneal opacity, Cataract, Conjunctival hyperemia ORPHA:2399
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Opacification of the corneal stroma OMIM:601356
Oculocerebrocutaneous Syndrome
Corneal opacity, Iris coloboma ORPHA:1647
Autoimmune Hemolytic Anemia, Warm Type
Abnormal urinary color, Autoimmune hemolytic anemia, Splenomegaly, Jaundice, Chronic lymphatic le... ORPHA:90033
Budd-Chiari Syndrome
Portal hypertension, Peritonitis, Cholecystitis, Splenomegaly, Hepatomegaly, Jaundice, Ascites, C... ORPHA:131
Mucopolysaccharidosis Type 3
Cataract, Corneal opacity, Adenoiditis, Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Urinar... ORPHA:581
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Unilateral renal agenesis, Opacification of the corneal stroma, Multicystic kidney dysplasia, Ren... OMIM:308205
Ocular Cystinosis
Corneal crystals ORPHA:411641
Congenital Pulmonary Lymphangiectasia
Splenomegaly, Hepatomegaly, Ascites ORPHA:2414
Fabry Disease