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Gene: Gm10800 MGI:3641657

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Gene Summary

Name:
predicted gene 10800
Synonyms:
N/A

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IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
enlarged heart Gm10800em1(IMPC)Mbp HOM Late adult 0.00
enlarged spleen Gm10800em1(IMPC)Mbp HOM Late adult 0.00
abnormal kidney morphology Gm10800em1(IMPC)Mbp HOM Late adult 0.00
abnormal skin morphology Gm10800em1(IMPC)Mbp HOM Late adult 0.00
abnormal lymph node morphology Gm10800em1(IMPC)Mbp HOM Late adult 0.00
microphthalmia Gm10800em1(IMPC)Mbp HOM Late adult 0.00
abnormal urinary bladder morphology Gm10800em1(IMPC)Mbp HOM Late adult 0.00
abnormal spleen morphology Gm10800em1(IMPC)Mbp HOM Late adult 0.00
abnormal eye morphology Gm10800em1(IMPC)Mbp HOM Late adult 0.00
abnormal heart morphology Gm10800em1(IMPC)Mbp HOM Late adult 0.00
enlarged urinary bladder Gm10800em1(IMPC)Mbp HOM Late adult 0.00
enlarged lymph nodes Gm10800em1(IMPC)Mbp HOM Late adult 0.00
enlarged kidney Gm10800em1(IMPC)Mbp HOM Late 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 Lateral Orientation

17 Images

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X-ray

XRay Images Whole Body Dorso Ventral

47 Images

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X-ray

XRay Images Whole Body Dorso Ventral

24 Images

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X-ray

XRay Images Whole Body Lateral Orientation

8 Images

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Human diseases caused by Gm10800 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Gm10800 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Polycystic Kidney Disease 5
Enlarged kidney, Polycystic kidney dysplasia, Hepatosplenomegaly, Hyperechogenic kidneys, Reduced... OMIM:617610
Hepatorenocardiac Degenerative Fibrosis
Enlarged kidney, Jaundice, Cirrhosis, Tubular luminal dilatation, Hepatocellular carcinoma, Renal... OMIM:619902
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Absence of lymph node germinal center, Endocardial fibrosis OMIM:235550
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Enlarged kidney, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Leukopenia, Extramedullary... OMIM:615285
Nephronophthisis 16
Situs inversus totalis, Enlarged kidney, Nephronophthisis, Periportal fibrosis, Polycystic kidney... OMIM:615382
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Ethanolaminosis
Cardiomegaly OMIM:227150
Immunodeficiency, Common Variable, 6
Enlarged kidney, Hepatomegaly, Nephrotic range proteinuria, Abnormal T cell count, Mesangial Immu... OMIM:613496
Reticuloendotheliosis, X-Linked
Jaundice, Anemia, Lymphadenopathy, Hepatosplenomegaly OMIM:312500
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology OMIM:136580
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy, Axillary lymphadenopathy, Inguinal lymphadenopathy OMIM:616126
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Neutropenia, Severe Congenital, 9, Autosomal Dominant
3-Methylglutaconic aciduria, Splenomegaly OMIM:619813
Meckel Syndrome, Type 8
Enlarged kidney, Microphthalmia, Anophthalmia, Polycystic kidney dysplasia, Pericardial effusion,... OMIM:613885
Renal-Hepatic-Pancreatic Dysplasia 2
Situs inversus totalis, Enlarged kidney, Hepatomegaly, Truncus arteriosus, Cholestasis, Hypertrop... OMIM:615415
Aa Amyloidosis
Acute kidney injury, Enlarged kidney, Hepatomegaly, Abnormality of the kidney, Cholestasis, Nephr... ORPHA:85445
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Pulmonary Nodular Lymphoid Hyperplasia
Plasmacytosis, Mediastinal lymphadenopathy, Follicular hyperplasia ORPHA:60026
Gombo Syndrome
Microphthalmia, Abnormal heart morphology OMIM:233270
Immunodeficiency 75 With Lymphoproliferation
Follicular hyperplasia, Hepatosplenomegaly, Lymphadenopathy, Decreased proportion of class-switch... OMIM:619126
Renal-Hepatic-Pancreatic Dysplasia 1
Enlarged kidney, Hyperechogenic pancreas, Cholestasis, Biliary cirrhosis, Aortic valve stenosis, ... OMIM:208540
Congenital Megacalycosis
Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph... ORPHA:93109
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly OMIM:162830
Immunodeficiency 104
Splenomegaly, Hepatomegaly, Lymphadenopathy, T lymphocytopenia OMIM:608971
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Hepatomegaly, Periportal fibrosis, Tubulointerstitial fibrosis, Polycystic kidne... OMIM:263200
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune thrombocytope... ORPHA:444463
Mu-Heavy Chain Disease
Hepatomegaly, Bence Jones Proteinuria, Lymphadenopathy, Anemia, Splenomegaly, Abnormal B cell cou... ORPHA:100024
Congenital Toxoplasmosis
Microphthalmia, Jaundice, Anemia, Lymphadenopathy, Hepatomegaly, Ascites, Thrombocytopenia, Cardi... ORPHA:858
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia OMIM:206400
Nephronophthisis 2
Chronic tubulointerstitial nephritis, Enlarged kidney, Nephronophthisis, Situs inversus totalis, ... OMIM:602088
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Splenomegaly, Microcytic anemia OMIM:618852
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Hypereosinophilic Syndrome, Idiopathic
Endocardial fibrosis, Hepatomegaly, Restrictive cardiomyopathy, Myeloproliferative disorder, Sple... OMIM:607685
Nephronophthisis 3
Polyuria, Enlarged kidney, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Hepatic fibr... OMIM:604387
Hemoglobin H Disease
HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia OMIM:613978
Kaposiform Lymphangiomatosis
Enlarged kidney, Anemia, Abnormality of the lymphatic system, Abnormal spleen morphology, Abnorma... ORPHA:464329
Kerion Celsi
Lymphadenopathy ORPHA:499
Granulomatous Slack Skin
Acute kidney injury, Nephrocalcinosis, Abnormal lymph node morphology ORPHA:33111
Renal Dysplasia
Pelvic mass, Enlarged kidney, Urinary incontinence, Renal hypoplasia/aplasia, Abnormal nephron mo... ORPHA:93108
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia, Hepatomegaly ORPHA:2432
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Pancytopenia OMIM:183350
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:86893
Mast Cell Sarcoma
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Splenomegaly ORPHA:66661
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Trimethylaminuria
Trimethylaminuria, Anemia, Splenomegaly, Neutropenia OMIM:602079
Autosomal Dominant Polycystic Kidney Disease
Enlarged kidney, Hematuria, Decreased glomerular filtration rate, Calcium oxalate nephrolithiasis... ORPHA:730
Mucopolysaccharidosis-Plus Syndrome
Enlarged kidney, Hepatomegaly, Macrovesicular hepatic steatosis, Anemia, Focal segmental glomerul... OMIM:617303
Nephronophthisis 19
Nephronophthisis, Hepatomegaly, Cholestasis, Hepatic fibrosis, Bile duct proliferation, Hyperecho... OMIM:616217
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Autoimmune Lymphoproliferative Syndrome, Type Iii
Autoimmune hemolytic anemia, Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Decrease... OMIM:615559
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Alpha-Heavy Chain Disease
Hepatomegaly, Anemia, Lymphadenopathy, Ascites, Splenomegaly ORPHA:100025
Tyrosinemia Type 1
Splenomegaly, Hepatomegaly, Hepatocellular carcinoma, Generalized aminoaciduria ORPHA:882
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy OMIM:604765
Amyloidosis, Familial Visceral
Hepatomegaly, Hematuria, Cholestasis, Nephrotic syndrome, Proteinuria, Splenomegaly, Renal amyloi... OMIM:105200
Heterotaxy, Visceral, 1, X-Linked
Enlarged kidney, Biliary atresia, Pulmonic stenosis, Cardiomegaly, Right atrial isomerism, Transp... OMIM:306955
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Jaundice, Hemophagocytosis, Anemia, Lymphadenopathy, Thrombocytopenia, Splenomegaly... OMIM:603552
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Lymphadenopathy, Neutropenia in presence o... OMIM:619220
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Hepatomegaly, Splenomegaly OMIM:606445
Immunodeficiency 76
Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Splenomegaly, Lymphopenia OMIM:619164
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased proportion of t... OMIM:615513
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Nephroblastoma, Enlarged kidney OMIM:618272
Neonatal Severe Primary Hyperparathyroidism
Splenomegaly, Hepatomegaly, Aminoaciduria ORPHA:417
Hemoglobin D Disease
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... ORPHA:90039
Galactosemia Iii
Jaundice, Hepatomegaly, Galactosuria, Splenomegaly, Aminoaciduria OMIM:230350
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Microphthalmia, Hepatomegaly, Ectopic kidney, Ventricular septal defect, Cystic renal dysplasia OMIM:613730
Follicular Lymphoma
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Abnormal peritoneum morphology ORPHA:545
Galactose Epimerase Deficiency
Splenomegaly, Jaundice, Aminoaciduria, Hepatomegaly ORPHA:79238
Lymphoproliferative Syndrome 3
Reduced natural killer cell count, Hepatosplenomegaly, Lymphadenopathy OMIM:618261
Infantile Sialic Acid Storage Disease
Hepatomegaly, Vacuolated lymphocytes, Ascites, Nephrotic syndrome, Splenomegaly, Cardiomegaly OMIM:269920
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Immunodeficiency 16
Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia OMIM:615593
Meacham Syndrome
Enlarged kidney, Transposition of the great arteries, Dextrocardia, Cardiac total anomalous pulmo... OMIM:608978
Immunodeficiency 52
Lymphadenopathy, Abnormal natural killer cell count, T lymphocytopenia, Splenomegaly, Abnormal B ... OMIM:617514
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplas... OMIM:133180
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E... OMIM:603902
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231393
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Splenomegal... OMIM:619375
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Mediastinal lymphadenopathy, Lymphadenopathy, Decreased proportion of CD4-positive helper T cells... OMIM:300853
Hyperbilirubinemia, Shunt, Primary
Jaundice, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Splenomegaly, Erythroid... OMIM:237800
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Fetal ascites, Hepatomegaly, Splenomegaly OMIM:619462
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Renal cortical adenoma, Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy, Pa... ORPHA:97290
Cardiac-Urogenital Syndrome
Atrial septal defect, Enlarged kidney, Mesocardia, Penoscrotal hypospadias, Partial anomalous pul... OMIM:618280
Glycogen Storage Disease Ib
Enlarged kidney, Hepatomegaly, Pancreatitis, Decreased glomerular filtration rate, Hepatocellular... OMIM:232220
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Enlarged kidney, Transposition of the great arteries, Atrioventricular canal defect, Dextrocardia... OMIM:314390
Cholestasis, Progressive Familial Intrahepatic, 12
Jaundice, Hepatomegaly, Cholestasis, Splenomegaly, Proteinuria OMIM:620010
Congenital Rubella Syndrome
Microphthalmia, Jaundice, Anemia, Hepatomegaly, Aplasia/Hypoplasia of the iris, Thrombocytopenia,... ORPHA:290
Tyrosinemia, Type I
Elevated urinary delta-aminolevulinic acid, Enlarged kidney, Cirrhosis, Hepatomegaly, Anemia, Glo... OMIM:276700
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased B cell count, Hepatosplenomegaly, Lymphadenopathy, Increased proportion of memory T cells OMIM:618982
Mitochondrial Complex I Deficiency, Nuclear Type 39
Perimembranous ventricular septal defect, Anemia, Hypospadias, Hypertrophic cardiomyopathy, Cardi... OMIM:620135
Neuraminidase Deficiency
Hepatomegaly, Vacuolated lymphocytes, Bone-marrow foam cells, Cardiomyopathy, Ascites, Urinary ex... OMIM:256550
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocyto... OMIM:614470
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Abnormal lymph node morphology, Anemia, Leukocytosis, Hepatosplenomegaly, Splenomeg... OMIM:612840
Immunodeficiency 64 With Lymphoproliferation
Autoimmune hemolytic anemia, Cervical lymphadenopathy, Mediastinal lymphadenopathy, Lymphadenopat... OMIM:618534
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Ureteral duplication, Macrovesicular hepatic steatosis, Hepatomegaly, Long-chain... OMIM:608836
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Renal hypoplasia/aplasia, Anemia, Hypospadias, Hypoplasia of penis, Ascites, Abnormality of the u... ORPHA:1046
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Anemia, Lymphadenopathy, Hemophagocytosis, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly OMIM:613101
Pfapa Syndrome
Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:42642
Acrocephalopolydactylous Dysplasia
Enlarged kidney, Hepatomegaly, Ascites, Polysplenia, Hepatic fibrosis, Pancreatic fibrosis, Cysti... OMIM:200995
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Anemia, Unilateral microphthalmos, Thrombocytopenia, Splenomegaly OMIM:615085
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Hepatomegaly, Hepatic steatosis, Splenomegaly OMIM:614480
Coproporphyria, Hereditary
Elevated urinary delta-aminolevulinic acid, Jaundice, Hepatomegaly, Increased urinary porphobilin... OMIM:121300
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Incr... OMIM:619924
Cold Agglutinin Disease
Hepatomegaly, Lymphadenopathy, Splenomegaly, Abnormal urinary color, Hemolytic anemia ORPHA:56425
Immunodeficiency 27A
Anemia, Thrombocytosis, Lymphadenopathy, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Enlarged... OMIM:209950
Matthew-Wood Syndrome
Annular pancreas, Microphthalmia, Aplasia/Hypoplasia of the pancreas, Anophthalmia, Vesicouretera... ORPHA:2470
Igg4-Related Kidney Disease
Enlarged kidney, Sclerosing cholangitis, Pericarditis, Cholecystitis, Urinary bladder inflammatio... ORPHA:449395
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged kidney, Enlarged polycystic ovaries ORPHA:90301
Autosomal Recessive Polycystic Kidney Disease
Enlarged kidney, Cholestasis, Ascites, Biliary hyperplasia, Splenomegaly, Abnormal intrahepatic b... ORPHA:731
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Recurrent urinary tract infections, S... OMIM:618495
Attrv30M Amyloidosis
Cardiomegaly, Cardiomyopathy, Abnormal renal physiology, Nephropathy ORPHA:85447
Wolman Disease
Hepatomegaly, Splenomegaly OMIM:620151
Immunodeficiency 84
B lymphocytopenia, Splenomegaly OMIM:619437
Sickle Cell Disease
Hepatomegaly, Jaundice, Hematuria, Cholelithiasis, Leukocytosis, Splenic infarction, Target cells... OMIM:603903
Pseudo-Torch Syndrome 3
Acute kidney injury, Anemia, Leukocytosis, Lymphadenitis, Proteinuria, Cardiomegaly, Congenital t... OMIM:618886
Sea-Blue Histiocyte Disease
Cirrhosis, Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly OMIM:269600
Hurler-Scheie Syndrome
Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Cardiomyopathy, Spleno... ORPHA:93476
Red Cell Phospholipid Defect With Hemolysis
Intermittent jaundice, Splenomegaly, Reticulocytosis OMIM:179700
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Enlarged kidney, Anemia, Patent foramen ovale, Hypertrophic cardiomyopathy, Nephrotic syndrome, B... ORPHA:505248
Adams-Oliver Syndrome 4
Atrial septal defect, Ventricular septal defect, Microphthalmia OMIM:615297
Schnitzler Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Splenomegaly ORPHA:37748
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Aplasia of the thymus, B lymphocytopenia, Eosinophilia, Lymph node hypoplasia, Sple... OMIM:602450
Indolent Systemic Mastocytosis
Hepatomegaly, Increased proportion of CD25+ mast cells, Lymphadenopathy, Mastocytosis, Splenomega... ORPHA:98848
Microphthalmia/Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Hemochromatosis, Type 2B
Cirrhosis, Hepatomegaly, Anemia, Cardiomyopathy, Splenomegaly, Hepatic fibrosis OMIM:613313
Immunodeficiency, Common Variable, 2
Hepatomegaly, Lymphadenopathy, Abnormal T cell count, Splenomegaly, Follicular hyperplasia OMIM:240500
Lymphoid Interstitial Pneumonia
Enlarged kidney, Hepatomegaly, Mediastinal lymphadenopathy ORPHA:79128
Diaphanospondylodysostosis
Enlarged kidney, Abnormal liver lobulation, Nephroblastomatosis, Nephrogenic rest, Horseshoe kidn... OMIM:608022
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Asymmetric septal hypertrophy, Splenomegaly, Cardiomegaly, Heparan sulfate excretio... OMIM:252920
H Syndrome
Abnormality of the kidney, Enlarged kidney, Lymphadenopathy, Hepatosplenomegaly, Micropenis, Hist... ORPHA:168569
Heme Oxygenase 1 Deficiency
Hepatomegaly, Hematuria, Lymphadenopathy, Asplenia, Nephritis, Proteinuria, Coombs-positive hemol... OMIM:614034
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Splenomegaly, Portal hypertension OMIM:610293
Cat-Eye Syndrome
Renal hypoplasia/aplasia, Microphthalmia, Hydronephrosis, Abnormal localization of kidney ORPHA:195
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Lymphadenopathy, Neutropenia i... OMIM:603909
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Microphthalmia, Hepatomegaly, Hypertrophic cardiomyopathy, Renal hypoplasia, Ketonuria OMIM:619053
Classic Mycosis Fungoides
Lymphadenopathy, Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly ORPHA:2584
Fish-Eye Disease
Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:79292
Familial Papillary Or Follicular Thyroid Carcinoma
Papillary renal cell carcinoma, Abnormal lymph node morphology, Chronic noninfectious lymphadenop... ORPHA:319487
Nephroblastoma
Hematuria, Lymphadenopathy, Aniridia, Nephroblastoma, Neoplasm of the liver ORPHA:654
Burkitt Lymphoma
Abnormal lymph node morphology, Decreased proportion of CD4-positive helper T cells, Abnormality ... ORPHA:543
Immunodeficiency 42
Splenomegaly, Hepatomegaly, Hypoplasia of the thymus OMIM:616622
Immunodeficiency 109 With Lymphoproliferation
Absent circulating B cells, Generalized lymphadenopathy, Splenomegaly, Pancytopenia OMIM:620282
Adams-Oliver Syndrome 6
Truncus arteriosus, Portal hypertension, Renal hypoplasia, Splenomegaly, Hepatic fibrosis, Ventri... OMIM:616589
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Hypersplenism OMIM:610539
Splenoportal Vascular Anomalies
Cirrhosis, Anomalous splenoportal venous system, Ascites, Splenomegaly, Hepatic fibrosis OMIM:271500
Immunodeficiency 69
Anemia, Hemophagocytosis, Pancytopenia, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Thrombocy... OMIM:618963
Caspase 8 Deficiency
Splenomegaly, Decreased CD4:CD8 ratio, Lymphadenopathy OMIM:607271
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Microphthalmia/Coloboma 4
Microphthalmia OMIM:251505
Lymphoproliferative Syndrome 2
Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Ascites, Hepatosp... OMIM:615122
Mmep Syndrome
Microphthalmia, Ventricular septal defect ORPHA:3434
Familial Cold Autoinflammatory Syndrome 2
Lymphadenopathy, Leukocytosis, Splenomegaly OMIM:611762
Immunodeficiency 7
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Hypereosinophilia, Neut... OMIM:615387
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia, Uraciluria, Elevated urinary dihydrothymine level OMIM:274270
Congenital Fibrinogen Deficiency
Microphthalmia, Splenic rupture, Right ventricular hypertrophy, Left ventricular hypertrophy, Mic... ORPHA:335
Kimura Disease
Follicular hyperplasia, Eosinophilia, Lymphadenopathy ORPHA:482
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Jaundice, Hepatomegaly, Biliary tract abnormality, Splenomegaly, Neonatal cholestatic ... ORPHA:79301
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Anemia, Hepatomegaly, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly OMIM:607616
Immunodeficiency, Common Variable, 1
Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, B lymphocyt... OMIM:607594
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Splenomegaly, Portal hypertension OMIM:617068
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Lymphadenopathy, B lymphocytopenia, Splenomegaly, Intermittent thrombocytopenia, Abnormal CD4:CD8... OMIM:150550
Progressive Familial Intrahepatic Cholestasis
Jaundice, Cholestasis, Splenomegaly, Hepatomegaly ORPHA:172
Activated Pi3K-Delta Syndrome
Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, B lymphocytopenia, Splenomegaly ORPHA:397596
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R... ORPHA:251380
Gray Platelet Syndrome
Thrombocytopenia, Splenomegaly ORPHA:721
Glycogen Storage Disease Ia
Enlarged kidney, Hepatomegaly, Pancreatitis, Decreased glomerular filtration rate, Hepatocellular... OMIM:232200
Fanconi Anemia, Complementation Group I
Microphthalmia, Abnormal renal morphology, Patent foramen ovale, Vesicoureteral reflux, Optic ner... OMIM:609053
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Lymphoproliferative Syndrome 1
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopeni... OMIM:613011
Triokinase And Fmn Cyclase Deficiency Syndrome
Microphthalmia, Hepatomegaly, Pancreatitis, Dilated cardiomyopathy, Hepatic steatosis, Microcytic... OMIM:618805
Griscelli Syndrome Type 2
Jaundice, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Splenomegaly, Neutropenia ORPHA:79477
Paternal Uniparental Disomy Of Chromosome 1
Enlarged kidney, Episodic hemolytic anemia, Macroscopic hematuria, Proteinuria, Membranoprolifera... ORPHA:251004
Classic Hodgkin Lymphoma
Bone marrow hypocellularity, Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:391
Immunodeficiency 54
Lymphadenopathy, Reduced natural killer cell count, Splenomegaly, Hepatomegaly OMIM:609981
Beckwith-Wiedemann Syndrome
Enlarged kidney, Hepatomegaly, Cardiomegaly, Renal cortical cysts, Vesicoureteral reflux, Cardiom... OMIM:130650
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Hepatomegaly, Abnormality of the urinary system, Splenomegaly ORPHA:2204
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Pleural Mesothelioma
Hepatomegaly, Lymphadenopathy ORPHA:50251
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Hemolytic-uremic syndrome, Hemophagocytosis, Lymphadenopathy, Nephrotic syndrome, N... OMIM:619644
Microphthalmia, Syndromic 12
Hypoplastic left atrium, Microphthalmia, Ventricular septal defect, Anophthalmia OMIM:615524
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Abnormality of the lymphatic system, Portal hypertension, Abno... ORPHA:1414
Hemochromatosis, Type 2A
Cirrhosis, Hepatomegaly, Cardiomyopathy, Splenomegaly, Dilated cardiomyopathy OMIM:602390
Immunodeficiency 48
Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Splenomegaly, Abnormal ... OMIM:269840
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Lymphopenia, Decreased pr... OMIM:619846
Anemia, Congenital Dyserythropoietic, Type Ib
Jaundice, Anemia, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Poikilocytosis,... OMIM:615631
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Harderoporphyria
Increased urine harderoporphyrin level, Hepatomegaly, Red urine, Increased urinary porphobilinoge... OMIM:618892
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia, Hematuria OMIM:120433
Immunodeficiency 103, Susceptibility To Fungal Infections
Lymphadenopathy, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cells,... OMIM:212050
Familial Atrial Myxoma
Jaundice, Bacterial endocarditis, Cardiac myxoma, Cholestasis, Ascites, Pulmonic valve myxoma, Ca... ORPHA:615
Anemia, Congenital Dyserythropoietic, Type Ii
Jaundice, Cholelithiasis, Anemia of inadequate production, Reticulocytosis, Splenomegaly OMIM:224100
Hyperparathyroidism, Transient Neonatal
Enlarged kidney, Unilateral renal agenesis, Splenic cyst OMIM:618188
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Neutropenia in presence of ant... OMIM:601859
Hereditary Amyloidosis With Primary Renal Involvement
Renal interstitial amyloid deposits, Hepatomegaly, Anemia, Decreased glomerular filtration rate, ... ORPHA:85450
Neurooculocardiogenitourinary Syndrome
Microphthalmia, Patent foramen ovale, Cardiomegaly, Atrial septal defect, Ventricular septal defect OMIM:618652
Nanophthalmos
Microphthalmia ORPHA:35612
Multicystic Dysplastic Kidney
Enlarged kidney, Unilateral renal agenesis, Ureterovesical junction obstruction, Vesicoureteral r... ORPHA:1851
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Hemihyperplasia-Multiple Lipomatosis Syndrome
Nephroblastoma, Abnormality of the lymphatic system, Enlarged kidney ORPHA:276280
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Pancreatitis, Anemia, Cardiomyopathy, Thrombocytopenia, Splenomegaly, Renal insuffi... ORPHA:79312
Glycogen Storage Disease Of Heart, Lethal Congenital
Enlarged kidney, Cardiomyopathy, Ascites, Hypertrophic cardiomyopathy, Pericardial effusion, Card... OMIM:261740
Leishmaniasis
Hepatomegaly, Anemia, Lymphadenopathy, Pancytopenia, Abnormal macrophage morphology, Leukopenia, ... ORPHA:507
Ciliary Dyskinesia, Primary, 53
Abdominal situs inversus, Situs inversus totalis, Perimembranous ventricular septal defect, Paten... OMIM:620642
Immunodeficiency 10
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Recurrent urinary tract infections, A... OMIM:612783
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Abnormal lymph node morphology, Lymphadenopathy, Decreased proportio... ORPHA:911
Castleman Disease
Jaundice, Hematuria, Mediastinal lymphadenopathy, Anemia, Lymphadenopathy, Restrictive cardiomyop... ORPHA:160
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Hemochromatosis, Type 1
Cirrhosis, Hepatomegaly, Hepatocellular carcinoma, Cardiomyopathy, Ascites, Splenomegaly, Cardiom... OMIM:235200
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Lymphadenopathy, Recurrent tonsillitis, Acute pancreatitis, Lymphadenitis, Nephrotic syndrome, He... OMIM:618935
Primary Myelofibrosis
Hepatomegaly, Anemia, Thrombocytosis, Lymphadenopathy, Pancytopenia, Leukocytosis, Portal hyperte... ORPHA:824
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Jaundice, Cholestasis, Hepatic bridging fibrosis, Splenomegaly, Hepatic fibrosis OMIM:619658
Systemic-Onset Juvenile Idiopathic Arthritis
Pericarditis, Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:85414
Gracile Bone Dysplasia
Microphthalmia, Aniridia, Ascites, Asplenia, Hypoplastic spleen, Micropenis OMIM:602361
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Lymphocytosis, Fu... OMIM:308240
Combined Oxidative Phosphorylation Deficiency 8
Cardiomegaly, Hypertrophic cardiomyopathy OMIM:614096
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia ORPHA:231401
Hypocomplementemic Urticarial Vasculitis
Glomerulopathy, Hepatomegaly, Hematuria, Lymphadenopathy, Abnormal heart valve morphology, Ascite... ORPHA:36412
Tafro Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Ascites, Thrombocytopenia, Splenomegaly, Hep... ORPHA:457077
Cholestasis, Progressive Familial Intrahepatic, 10
Jaundice, Portal fibrosis, Hepatomegaly, Splenomegaly, Acholic stools OMIM:619868
Gaucher Disease Type 2
Hepatomegaly, Splenomegaly ORPHA:77260
Congenital Myopathy 8
Cardiomegaly OMIM:618654
Roifman Syndrome
Hepatomegaly, Lymphadenopathy, Noncompaction cardiomyopathy, Splenomegaly, Eosinophilia, Ventricu... OMIM:616651
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Deafness-Lymphedema-Leukemia Syndrome
Acute leukemia, Hepatomegaly, Lymphadenopathy, Abnormal neutrophil count, Myeloproliferative diso... ORPHA:3226
Fanconi Anemia, Complementation Group G
Microphthalmia, Anemia, Thrombocytopenia, Leukemia, Neutropenia OMIM:614082
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Microphthalmia, Focal segmental glomerulosclerosis, Nephrotic syndrome, Bone marrow hypocellulari... OMIM:301108
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia OMIM:616570
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Neonatal cholestatic liver disease, Splenomegaly OMIM:214900
Rosaï-Dorfman Disease
Anemia, Lymphadenopathy ORPHA:158014
Rhabdoid Tumor
Renal neoplasm, Hematuria, Lymphadenopathy, Anemia, Thrombocytopenia, Neoplasm of the liver ORPHA:69077
Legionnaires Disease
Myocarditis, Jaundice, Hematuria, Pancreatitis, Lymphadenopathy, Hepatitis, Bone marrow hypocellu... ORPHA:549
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Cirrhosis, Hepatomegaly, Prolonged neonatal jaundice, Copper accumulat... OMIM:616828
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatomegaly, Splenomegaly OMIM:616719
Microphthalmia, Syndromic 9
Renal malrotation, Multilobulated spleen, Bilateral microphthalmos, Anophthalmia, Hypoplastic lef... OMIM:601186
Scrub Typhus
Myocarditis, Lymphadenopathy, Renal insufficiency, Splenomegaly ORPHA:83317
Cardiomyopathy, Familial Hypertrophic, 27
Ventricular septal hypertrophy, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat... OMIM:618052
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia, Hydroureter, Hypoplasia of penis, Abnormality of the bladder, Abnormality of the ... ORPHA:2547
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Acute myelomonocytic leukemia, Hypopl... ORPHA:2585
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Cirrhosis, Jaundice, Anemia, Hepatomegaly, Hypochromia, Elevated hepatic iron concentration, Anis... OMIM:616860
Oculogastrointestinal Neurodevelopmental Syndrome
Bicuspid aortic valve, Unilateral microphthalmos, Bilateral microphthalmos, Horseshoe kidney OMIM:619318
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Mediastinal lymphadenopathy, Hepatomegaly, Thrombocytopenia, Splenomegaly ORPHA:158029
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Hepatomegaly, Recurrent urinary tract infections, Leukopenia, Splenomegaly, Lymphopenia, Ventricu... OMIM:620210
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormality of the kidney, Liver abscess, Abnormal lymph node morphology, Anemia, Abnormality of ... ORPHA:54251
Microphthalmia/Coloboma 5
Bilateral microphthalmos, Microphthalmia, Anophthalmia OMIM:611638
Hemoglobin E Disease
Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H... ORPHA:2133
Xk Aprosencephaly Syndrome
Atrial septal defect, Ventricular septal defect, Microphthalmia ORPHA:3469
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Elevated urinary inosine level, Neutropenia in presence of anti-neut... OMIM:613179
Immunodeficiency With Hyper-Igm, Type 5
Lymphadenopathy OMIM:608106
Alg9-Cdg
Atrial septal defect, Enlarged kidney, Hepatomegaly, Periportal fibrosis, Abnormal left ventricul... ORPHA:79328
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemi... ORPHA:75564
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Iron deficiency anemia, Hepatosplenomegaly, Cardiomegaly, Glomerulonephritis ORPHA:99931
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Nephroblastoma, Microphthalmia, Ventricular septal defect, Leukemia OMIM:602501
Biemond Syndrome Type 2
Microphthalmia, Hypospadias ORPHA:141333
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Omenn Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Leukocytosis, Nephrotic sy... ORPHA:39041
Ornithine Transcarbamylase Deficiency
Splenomegaly, Aminoaciduria ORPHA:664
Immunodeficiency With Hyper-Igm, Type 3
Absence of lymph node germinal center, Neutropenia OMIM:606843
Nanophthalmos 4
Microphthalmia OMIM:615972
Thrombocythemia 1
Thrombocytosis, Splenomegaly OMIM:187950
Fanconi Anemia, Complementation Group J
Bone marrow hypocellularity, Microphthalmia OMIM:609054
Mucolipidosis Ii Alpha/Beta
Enlarged kidney, Hepatomegaly, Hypertrophic cardiomyopathy, Mucopolysacchariduria, Splenomegaly, ... OMIM:252500
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Hepatocellular carcinoma, Splenomegaly OMIM:613490
Refsum Disease
Cardiomyopathy, Microphthalmia, Renal insufficiency, Splenomegaly ORPHA:773
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy OMIM:605258
Laryngeal Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100083
Carnitine Deficiency, Systemic Primary
Dicarboxylic aciduria, Hepatomegaly, Microvesicular hepatic steatosis, Decreased carnitine level ... OMIM:212140
X-Linked Sideroblastic Anemia
Anemia, Splenomegaly ORPHA:75563
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil... ORPHA:766
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Microphthalmia, Unilateral renal agenesis, Patent foramen ovale, Renal hypoplasia, Hydronephrosis... OMIM:618494
Microphthalmia/Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Congenital Pulmonary Lymphangiectasia
Hepatomegaly, Chylopericardium, Ascites, Pulmonic stenosis, Splenomegaly ORPHA:2414
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Mediastinal lymphadenopathy, Hemophagocytosis, Decreased proportion ... OMIM:619802
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Griscelli Syndrome
Jaundice, Hepatomegaly, Lymphadenopathy, Ascites, Bone marrow hypocellularity, Leukopenia, Spleno... ORPHA:381
American Trypanosomiasis
Myocarditis, Hepatomegaly, Lymphadenopathy, Cardiomyopathy, Splenomegaly ORPHA:3386
Erythrocytosis, Familial, 8
Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo... OMIM:222800
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Jaundice, Hepatomegaly, Decreased proportion of CD3-positive T cells, Decreased proportion of nai... ORPHA:276
Lymphoproliferative Syndrome, X-Linked, 2
Aplastic anemia, Hepatomegaly, Hemophagocytosis, Pancytopenia, Splenomegaly, Hepatitis OMIM:300635
Cinca Syndrome
Anemia, Lymphadenopathy, Leukocytosis, Hepatosplenomegaly, Eosinophilia OMIM:607115
Glut1 Deficiency Syndrome 2
Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:612126
Beckwith-Wiedemann Syndrome
Enlarged kidney, Ureteral duplication, Hepatomegaly, Abnormal pancreas morphology, Congenital meg... ORPHA:116
Bile Acid Synthesis Defect, Congenital, 5
Jaundice, Portal fibrosis, Iron deficiency anemia, Hepatomegaly, Portal hypertension, Splenomegal... OMIM:616278
Immunodeficiency 32A
Lymphadenitis, Lymphadenopathy OMIM:614893
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Absence of lymph node germinal center, Autoimmune thrombocytopenia OMIM:608184
Beta-Thalassemia
Hepatomegaly, Anemia, Cholelithiasis, Hypertrophic cardiomyopathy, Thrombocytopenia, Splenomegaly... ORPHA:848
Denys-Drash Syndrome
Enlarged kidney, Focal segmental glomerulosclerosis, Nephrotic syndrome, Diffuse mesangial sclero... OMIM:194080
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, B lymphocytopenia, Cervical lymphadenopathy OMIM:618987
Joubert Syndrome 22
Renal hypoplasia, Microphthalmia OMIM:615665
Niemann-Pick Disease, Type A
Sea-blue histiocytosis, Hepatomegaly, Lymphadenopathy, Bone-marrow foam cells, Ascites, Prolonged... OMIM:257200
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, B lymphocytopenia, ... OMIM:301078
Desmoplastic Small Round Cell Tumor
Hepatomegaly, Anemia, Lymphadenopathy, Neoplasm of the pancreas, Abnormal peritoneum morphology, ... ORPHA:83469
Cholestasis, Progressive Familial Intrahepatic, 9
Jaundice, Intrahepatic cholestasis, Hepatomegaly, Fibro-obliterative bile-duct lesion, Portal hyp... OMIM:619849
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Perimembranous ventricular septal defect OMIM:619170
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Cardiomegaly, Dilated cardiomyopathy, Hepatomegaly, Macrovesicular hepatic steatosis OMIM:600649
Cryoglobulinemic Vasculitis
Glomerulopathy, Hepatomegaly, Hematuria, Mediastinal lymphadenopathy, Viral hepatitis, Splenomega... ORPHA:91138
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia ORPHA:2528
Cholesteryl Ester Storage Disease
Cirrhosis, Jaundice, Splenomegaly, Hepatomegaly ORPHA:75234
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly OMIM:300886
Mulibrey Nanism
Hepatomegaly, Ascites, Pericardial constriction, Myocardial fibrosis, Cardiomegaly, Nephroblastoma OMIM:253250
Glycogen Storage Disease Ixb
Hepatomegaly, Splenomegaly, Increased hepatic glycogen content OMIM:261750
Gamma-Heavy Chain Disease
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morpholog... ORPHA:100026
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Anemia, Pericarditis, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Nephronophthisis, Hepatomegaly, Cholestasis, Splenomegaly, Chronic kidney disease, Hepatic fibros... OMIM:615630
Lipodystrophy, Congenital Generalized, Type 3
Hepatic steatosis, Hepatomegaly, Hepatosplenomegaly, Splenomegaly OMIM:612526
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal ventriculoarterial connection, Hepatomegaly, Ventricular septal defect, Anomalous pulmon... ORPHA:860
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
B lymphocytopenia, T lymphocytopenia, Absence of lymph node germinal center, Lymphopenia, Absent ... ORPHA:277
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Enlarged kidney, Hepatocellular adenoma, Pancreatitis, Hepatomegaly, Anemia, Increased hepatic gl... ORPHA:79259
Gaucher Disease, Type Iiic
Hepatomegaly, Pancytopenia, Mitral valve calcification, Mitral stenosis, Splenomegaly, Aortic val... OMIM:231005
Aggressive Systemic Mastocytosis
Anemia, Lymphadenopathy, Increased proportion of CD25+ mast cells, Pancytopenia, Leukocytosis, Po... ORPHA:98850
Roifman Syndrome
Eosinophilia, Noncompaction cardiomyopathy, Hepatosplenomegaly, Lymphadenopathy ORPHA:353298
Fanconi Anemia, Complementation Group R
Pelvic kidney, Microphthalmia, Anemia, Bone marrow hypocellularity OMIM:617244
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Linear Skin Defects With Multiple Congenital Anomalies 2
Atrial septal defect, Ventricular hypertrophy, Tetralogy of Fallot, Microphthalmia OMIM:300887
Meckel Syndrome, Type 4
Microphthalmia, Renal cyst, Bile duct proliferation, Atrial septal defect, Ventricular septal defect OMIM:611134
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Renal malrotation, Enlarged kidney, Abnormal right ventricle morphology, Chronic neutropenia, Tra... ORPHA:500095
Sézary Syndrome
Lymphadenopathy, Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly ORPHA:3162
Adult-Onset Still Disease
Myocarditis, Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Bone marrow hypocellularity, Pe... ORPHA:829
Proteasome-Associated Autoinflammatory Syndrome 4
Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly, Lymphadenopathy OMIM:619183
Sclerosing Cholangitis, Neonatal
Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Vesic... OMIM:617394
Spherocytosis, Type 5
Jaundice, Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia... OMIM:612690
Boutonneuse Fever
Lymphadenopathy, Thrombocytopenia, Leukopenia, Renal insufficiency, Cervical lymphadenopathy ORPHA:83313
Pseudomyxoma Peritonei
Ascites, Lymphadenopathy, Abnormal peritoneum morphology ORPHA:26790
Trisomy 13
Microphthalmia, Anophthalmia, Aplasia/Hypoplasia of the iris, Abnormality of the ureter, Hydronep... ORPHA:3378
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Cardiomegaly, Hepatomegaly OMIM:619064
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Hepatocellular carcinoma, Ascites, Portal hypertension, Thrombocytopenia, Splenomeg... OMIM:619463
Mosaic Trisomy 9
Microphthalmia, Abnormal liver lobulation, Dextrocardia, Hypoplasia of penis, Abnormal heart valv... ORPHA:99776
Pierpont Syndrome
Microphthalmia, Micropenis OMIM:602342
Felty Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Recurrent urinary tract infections, Abnormal lymphocyte mo... ORPHA:47612
Fanconi Anemia, Complementation Group F
Microphthalmia, Anemia, Pelvic kidney, Vesicoureteral reflux, Microphallus, Renal hypoplasia, Bon... OMIM:603467
Bresek Syndrome
Microphthalmia, Optic nerve hypoplasia, Vesicoureteral reflux, Hypoplasia of the bladder, Renal h... ORPHA:85284
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hepatomegaly, Lymphadenopathy, Hypoplasia of the iris, Thrombocytopenia, Splenomegaly, Hemolytic ... ORPHA:169090
Foveal Hypoplasia 2
Microphthalmia, Hypoplasia of the fovea OMIM:609218
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni... OMIM:314050
Joubert Syndrome 33
Splenomegaly OMIM:617767
Fanconi Anemia, Complementation Group A
Microphthalmia, Anemia, Ectopic kidney, Duplicated collecting system, Pancytopenia, Abnormal rena... OMIM:227650
Fanconi Anemia, Complementation Group N
Aplastic anemia, Microphthalmia, Unilateral renal agenesis, Ectopic kidney, Acute myeloid leukemi... OMIM:610832
Microphthalmia/Coloboma 7
Microphthalmia OMIM:614497
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Anemia, Acute myeloid leukemia, Hemophagocytosis, Pancytopenia, Hepatocellular carcinoma, Acute l... ORPHA:158057
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Tularemia
Cervical lymphadenopathy, Anemia, Lymphadenopathy, Mediastinal lymphadenopathy, Leukocytosis, Thr... ORPHA:3392
Joubert Syndrome 37
Microphthalmia, Hydronephrosis, Micropenis, Hepatomegaly OMIM:619185
Fanconi Anemia, Complementation Group E
Microphthalmia, Anemia, Ectopic kidney, Duplicated collecting system, Pancytopenia, Reticulocytop... OMIM:600901
Uruguay Faciocardiomusculoskeletal Syndrome
Left atrial enlargement, Ventricular hypertrophy, Cardiomyopathy, Hypertrophic cardiomyopathy, Le... OMIM:300280
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Renal dysplasia, Polycystic kidney dysplasia, Enlarged kidney, Micropenis OMIM:613091
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microphthalmia OMIM:616171
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Anemia, Lymphadenopathy, Vesicoureteral reflux, Cholestasis, Leukocytosis, Lymphade... OMIM:615895
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Microphthalmia, Hematuria ORPHA:1473
Gaucher Disease, Type Iii
Hepatomegaly, Thrombocytopenia, Splenomegaly, Pancytopenia OMIM:231000
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Lymphadenopathy, Retroperitoneal fibrosis, Pancreatic hypoplasia, Pulmonic stenosis... OMIM:602782
Klatskin Tumor
Jaundice, Hepatomegaly, Lymphadenopathy, Cholangiocarcinoma, Extrahepatic cholestasis ORPHA:99978
Cholestasis, Progressive Familial Intrahepatic, 3
Cirrhosis, Jaundice, Intrahepatic cholestasis, Portal fibrosis, Hepatomegaly, Portal inflammation... OMIM:602347
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Jaundice, Hepatomegaly, Increased mean corpuscular hemoglobin concentration,... OMIM:616689
Alpha-Thalassemia
Anisopoikilocytosis, Hemoglobin Barts, Jaundice, Anemia, Cholelithiasis, Reticulocytosis, Pericar... ORPHA:846
Omenn Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoplasia of the thymus, Severe B lymp... OMIM:603554
Microphthalmia/Coloboma 3
Microphthalmia OMIM:610092
Long-Olsen-Distelmaier Syndrome
Microspherophakia, Optic nerve hypoplasia, Secundum atrial septal defect, Cardiomegaly, Dilated c... OMIM:620609
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Jaundice, Hepatomegaly, Cholestasis, Portal hypertension, Splenomegaly ORPHA:59303
2Q24 Microdeletion Syndrome
Microphthalmia ORPHA:1617
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Anemia, Hypospadias, Reduced hematocrit, Anemia of inadequate production, Persisten... OMIM:613673
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune... OMIM:616100
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Jaundice, Normochromic anemia, Cholelithiasis, Nonspherocytic hemolytic anemia... OMIM:235700
Pediatric Systemic Lupus Erythematosus
Hematuria, Lymphadenopathy, Abnormality of the urinary system, Ascites, Nephrotic syndrome, Peric... ORPHA:93552
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly, Oligosacchariduria ORPHA:3137
Combined Oxidative Phosphorylation Deficiency 10
Cardiomegaly, Pericardial effusion, Ascites, Hypertrophic cardiomyopathy OMIM:614702
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Exercise-induced myoglobinuria, Dicarboxylic aciduria, Hepatomegaly, Periportal fibrosis, Hypertr... OMIM:201475
Cat Eye Syndrome
Microphthalmia, Tricuspid atresia, Biliary atresia, Vesicoureteral reflux, Total anomalous pulmon... OMIM:115470
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Microphthalmia, Patent foramen ovale, Pulmonic stenosis, Renal hypoplasia, Lens coloboma OMIM:618914
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Lymphadenopathy, Decreased proportion of CD3-positi... ORPHA:169154
Endocrine-Cerebroosteodysplasia
Enlarged kidney, Hyperechogenic kidneys, Hypospadias, Microphallus OMIM:612651
Cofs Syndrome
Microphthalmia ORPHA:1466
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Coach Syndrome 1
Cirrhosis, Nephronophthisis, Hepatomegaly, Unilateral renal agenesis, Abnormal abdomen morphology... OMIM:216360
Ogden Syndrome
Left atrial enlargement, Enlarged kidney, Jaundice, Macrovesicular hepatic steatosis, Iron defici... OMIM:300855
Osteopetrosis, Autosomal Dominant 3
Hepatomegaly, Anemia, Splenomegaly OMIM:618107
Seckel Syndrome 2
Microphthalmia, Ectopic kidney, Hypospadias OMIM:606744
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia OMIM:278780
Microcephaly 20, Primary, Autosomal Recessive
Microphthalmia, Optic nerve hypoplasia, Bilateral renal agenesis, Renal hypoplasia, Ureteral agen... OMIM:617914
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Anemia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Elevated hepatic iron co... OMIM:615234
Hepatoportal Sclerosis
Abnormal liver parenchyma morphology, Jaundice, Anemia, Periportal fibrosis, Hepatocellular carci... ORPHA:64743
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Splenomegaly, Pancytopenia OMIM:614979
Meckel Syndrome, Type 5
Microphthalmia, Renal cyst, Bile duct proliferation OMIM:611561
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular septal hypertrophy, Hepatomegaly, Muscular ventricular septal defect, Ventricular hyp... OMIM:115197
Diffuse Cutaneous Mastocytosis
Hepatomegaly, Lymphadenopathy, Lymphocytosis, Myeloproliferative disorder, Abnormality of the spl... ORPHA:79456
Adams-Oliver Syndrome 5
Patent foramen ovale, Right atrial enlargement, Portal vein thrombosis, Pulmonic stenosis, Spleno... OMIM:616028
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Dicarboxylic aciduria, Hepatomegaly, Cardiomegaly, Elevated urinary 3-hydroxybutyric acid, Hepati... ORPHA:42
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Microcytic anemia, Hepatosplenomegaly, Lymphadenopathy OMIM:619750
Fanconi Anemia, Complementation Group C
Microphthalmia, Anemia, Ectopic kidney, Duplicated collecting system, Pancytopenia, Reticulocytop... OMIM:227645
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Microphthalmia, Cardiomyopathy OMIM:613155
Drug Reaction With Eosinophilia And Systemic Symptoms
Myocarditis, Lymphadenopathy, Lymphocytosis, Hepatitis, Nephrotic syndrome, Eosinophilia, Renal i... ORPHA:139402
Polycythemia Vera
Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro... OMIM:263300
Papillorenal Syndrome
Microphthalmia, Hematuria, Horseshoe kidney, Vesicoureteral reflux, Mild proteinuria, Nephrolithi... OMIM:120330
Papa Syndrome
Lymphadenopathy, Proteinuria ORPHA:69126
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Jaundice, Hepatomegaly, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Incr... OMIM:194380
Cinca Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Abnormal granulocyte morphology, Splenomegal... ORPHA:1451
Mixed Connective Tissue Disease
Myocarditis, Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Pericarditis, Leukopenia... ORPHA:809
Microgastria-Limb Reduction Defect Syndrome
Microphthalmia, Hepatomegaly, Renal hypoplasia/aplasia, Anophthalmia, Truncus arteriosus, Renal a... ORPHA:2538
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Anemia, Lymphadenopathy, Decreased FOXP3-expressing T cell count, Thrombocytopenia, Coombs-positi... OMIM:304790
Developmental And Epileptic Encephalopathy 1
Microphthalmia, Micropenis OMIM:308350
Q Fever
Myocarditis, Hepatomegaly, Hematuria, Anemia, Lymphadenopathy, Abnormal heart valve morphology, P... ORPHA:781
Transaldolase Deficiency
Atrial septal defect, Cirrhosis, Hepatomegaly, Anemia, Pancytopenia, Patent foramen ovale, Hepato... OMIM:606003
Macrophage Activation Syndrome
Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell count, Lymphadenopathy, Thro... ORPHA:158061
Attrv122I Amyloidosis
Anemia, Cardiac amyloidosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Aortic valv... ORPHA:85451
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Abnormal urinary color, Splenomegaly ORPHA:90037
Glycogen Storage Disease Ixa1
Hepatomegaly, Splenomegaly OMIM:306000
Chronic Myeloid Leukemia
Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl... ORPHA:521
Sandhoff Disease
Urinary incontinence, Hepatomegaly, Increased urinary N-acetylglucosamine-rich oligosaccharide le... OMIM:268800
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Immunodeficiency 27B
Generalized lymphadenopathy OMIM:615978
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Microphthalmia, Left ventricular hypertrophy OMIM:613153
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Reduced renal corticomedullary differentiation, Hepatomegaly, Splenomegaly OMIM:618541
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Cardiomegaly, Ventricular hypertrophy, Hypertrophic cardiomyopathy OMIM:619051
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope... ORPHA:231154
Immune Dysregulation, Autoimmunity, And Autoinflammation
Anemia, Cervical lymphadenopathy, Inguinal lymphadenopathy OMIM:620514
Familial Hemophagocytic Lymphohistiocytosis
Cholestatic liver disease, Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Lymphadenopathy, Abn... ORPHA:540
Thrombocytopenia, Anemia, And Myelofibrosis
Anisopoikilocytosis, Thrombocytopenia, Anemia, Splenomegaly OMIM:617441
Pyruvate Kinase Deficiency Of Red Cells
Chronic hemolytic anemia, Jaundice, Reduced red cell pyruvate kinase level, Cholelithiasis, Hepat... OMIM:266200
Neonatal Lupus Erythematosus
Aplastic anemia, Hepatomegaly, Anemia, Pancytopenia, Abnormal heart morphology, Thrombocytopenia,... ORPHA:398124
Fixed Subaortic Stenosis
Atrioventricular canal defect, Cardiomegaly, Bacterial endocarditis, Pulmonic stenosis, Abnormal ... ORPHA:3092
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Renal tubular epithelial necrosis, Dicarboxylic aciduria, Hepatomegaly, Myoglobinuria, Polycystic... ORPHA:228308
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, B lymphocytopenia, Lymphadenitis, T lymphocytopenia, Leukopenia, Hepatosplenomegaly... OMIM:618986
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypospadias, Ascites, Hypertrophic cardiomyopathy, Hydronephrosis, Cardiomegaly, Ventricular sept... OMIM:616897
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Jaundice, Hepatomegaly, Anemia of inadequate production, Exocrine pancreatic insufficiency, Splen... OMIM:612714
Cholestasis, Progressive Familial Intrahepatic, 2
Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Hepatocellular carcinoma, Intermittent jaundic... OMIM:601847
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Jaundice, Hepatomegaly, Anemia, Abnormal natural killer cell count, Pancytopenia, Ascites, Portal... ORPHA:79124
Pierpont Syndrome
Microphthalmia ORPHA:487825
Pulmonary Non-Tuberculous Mycobacterial Infection
Pericardial effusion, Lymphadenopathy ORPHA:411703
Refsum Disease, Classic
Cardiomegaly, Cardiomyopathy, Abnormal renal physiology OMIM:266500
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Jaundice, Cholelithiasis, Spontaneous hemolytic crises, Nonspherocytic hemolytic anemia, Impaired... OMIM:613470
Overhydrated Hereditary Stomatocytosis
Decreased mean corpuscular hemoglobin concentration, Intermittent jaundice, Reticulocytosis, Abno... ORPHA:3203
Fanconi Anemia, Complementation Group D2
Annular pancreas, Microphthalmia, Anemia, Ectopic kidney, Duplicated collecting system, Pancytope... OMIM:227646
Subaortic Stenosis-Short Stature Syndrome
Biliary tract abnormality, Microphthalmia, Membranous subvalvular aortic stenosis, Subvalvular ao... ORPHA:3191
Fraser Syndrome 2
Microphthalmia, Unilateral renal agenesis, Bilateral renal agenesis, Aplasia of the bladder, Hypo... OMIM:617666
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Hepatomegaly, Abnormal tricuspid valve annulus morphology, Patent foram... ORPHA:555874
Hereditary Orotic Aciduria
Anemia, Oroticaciduria, Abnormality of the ureter, Orotic acid crystalluria, Splenomegaly, Aminoa... ORPHA:30
Arterial Calcification, Generalized, Of Infancy, 2
Cardiomegaly, Nephrocalcinosis, Right atrial enlargement OMIM:614473
Rere-Related Neurodevelopmental Syndrome
Microphthalmia, Hypospadias, Vesicoureteral reflux, Abnormal heart morphology, Ventricular septal... ORPHA:494344
Erythrocytosis, Familial, 1
Increased circulating hemoglobin concentration, Increased red blood cell mass, Splenomegaly, Incr... OMIM:133100
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Abnormally large globe, Abnormal renal morphology, Pancreatic lymphangiectasis, Asc... ORPHA:1655
Immunodeficiency 32B
Hepatomegaly, Anemia, Monocytopenia, Neutrophilia, Thrombocytopenia, Splenomegaly, Eosinophilia, ... OMIM:226990
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Microphthalmia, Ventricular septal defect ORPHA:93267
Mucopolysaccharidosis, Type Iiia
Hepatomegaly, Splenomegaly, Heparan sulfate excretion in urine, Asymmetric septal hypertrophy OMIM:252900
Wolman Disease
Hepatomegaly, Anemia, Bone-marrow foam cells, Ascites, Splenomegaly ORPHA:75233
Facial Clefting, Oblique, 1
Microphthalmia OMIM:600251
Lig4 Syndrome
Acute leukemia, Hepatomegaly, Lymphadenopathy, Pancytopenia, Hypoplasia of penis, Leukocytosis ORPHA:99812
Immunodeficiency With Hyper-Igm, Type 1
Cirrhosis, Hepatomegaly, Sclerosing cholangitis, Chronic hepatitis, Enlarged tonsils, Thrombocyto... OMIM:308230
Spherocytosis, Type 4
Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia OMIM:612653
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Hepatomegaly, Anemia, Splenomegaly OMIM:620296
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Dicarboxylic aciduria, Renal tubular acidosis, Cardiomegaly, Hepatic steatosis, Ket... OMIM:255120
Osteopetrosis, Autosomal Recessive 4
Hepatomegaly, Anemia, Reticulocytosis, Thrombocytopenia, Splenomegaly OMIM:611490
Symptomatic Form Of Hfe-Related Hemochromatosis
Cirrhosis, Hepatomegaly, Hepatocellular carcinoma, Cardiomyopathy, Portal hypertension, Splenomeg... ORPHA:465508
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Mycosis Fungoides
Lymphadenopathy OMIM:254400
Encephalocraniocutaneous Lipomatosis
Microphthalmia, Pelvic kidney, Hypoplasia of the iris, Hydronephrosis, Atrial septal defect, Vent... OMIM:613001
Short Fifth Metacarpals-Insulin Resistance Syndrome
Spherocytosis, Splenomegaly ORPHA:66518
Cryohydrocytosis
Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:185020
Cholesteryl Ester Storage Disease
Cirrhosis, Hepatomegaly, Anemia, Periportal fibrosis, Bone-marrow foam cells, Portal hypertension... OMIM:278000
Microphthalmia, Isolated 5
Microphthalmia OMIM:611040
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Cardiomyopathy, Nephrotic syndrome, Left ventricular hypertrophy, Cardiomegaly OMIM:617713
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Spherocytosis, Type 1
Jaundice, Cholelithiasis, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia OMIM:182900
Congenital Varicella Syndrome
Microphthalmia ORPHA:291
Simpson-Golabi-Behmel Syndrome, Type 1
Enlarged kidney, Hepatomegaly, Transposition of the great arteries, Hypospadias, Ventricular sept... OMIM:312870
Chediak-Higashi Syndrome
Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Lymphadenopathy, Leukopenia, Splenomegaly, Impa... OMIM:214500
Acute Monoblastic/Monocytic Leukemia
Anemia, Lymphocytosis, Acute monocytic leukemia, Leukocytosis, Hypochromic anemia, Oliguria, Cerv... ORPHA:514
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Anemia OMIM:618838
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Jaundice, Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Prol... OMIM:300908
Beta-Thalassemia Intermedia
Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Proximal tubulopathy, Anemia of inadequate pro... ORPHA:231222
Spherocytosis, Type 2
Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia OMIM:616649
Microphthalmia, Syndromic 13
Microphthalmia OMIM:300915
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Atrial septal defect, Multiple bladder diverticula, Proteinuria, Microphthalmia ORPHA:2728
Thymic Neuroendocrine Tumor
Mediastinal lymphadenopathy, Pancreatic islet cell adenoma, Neoplasm of the thymus, Chronic nonin... ORPHA:97289
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia OMIM:610023
Helsmoortel-Van Der Aa Syndrome
Enlarged kidney, Recurrent urinary tract infections, Enuresis nocturna, Abnormal heart morphology... OMIM:615873
Myelofibrosis
Hepatomegaly, Hemophagocytosis, Myeloproliferative disorder, Splenomegaly, Extramedullary hematop... OMIM:254450
Warburg Micro Syndrome 1
Microphthalmia OMIM:600118
Hsd10 Disease, Infantile Type
Cardiomegaly, Abnormal concentration of acylcarnitine in the urine, Abnormality of the lower urin... ORPHA:391428
Craniotelencephalic Dysplasia
Microphthalmia, Septo-optic dysplasia ORPHA:1528
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Microphthalmia, Hypospadias, Anophthalmia, Hypoplasia of penis, Ventricular septal defect ORPHA:77298
Mevalonic Aciduria
Fluctuating splenomegaly, Anemia, Lymphadenopathy, Leukocytosis, Normocytic hypoplastic anemia, H... OMIM:610377
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Neutropenia in presence of anti-neutr... ORPHA:436159
Cholestasis, Progressive Familial Intrahepatic, 1
Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis with episodic jaundic... OMIM:211600
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Meckel Syndrome, Type 2
Microphthalmia, Renal cyst, Bile duct proliferation OMIM:603194
Hyper-Igd Syndrome
Lymphadenopathy, Leukocytosis, Lymphadenitis, Neutrophilia, Hepatosplenomegaly, Splenomegaly, Ele... OMIM:260920
Cantu Syndrome
Cardiomegaly, Bicuspid aortic valve, Pericardial effusion, Congenital hypertrophy of left ventricle OMIM:239850
Leprechaunism
Enlarged kidney, Hepatomegaly, Long penis, Hypercalciuria, Hypertrophic cardiomyopathy, Nephrocal... ORPHA:508
Pseudotrisomy 13 Syndrome
Microphthalmia, Tricuspid atresia, Dextrocardia, Renal agenesis, Renal hypoplasia, Atrial septal ... OMIM:264480
Stromme Syndrome
Microphthalmia, Accessory spleen, Optic nerve hypoplasia, Hydronephrosis, Bilateral renal hypoplasia OMIM:243605
Timothy Syndrome
Cardiomegaly, Patent foramen ovale, Ventricular septal defect, Tetralogy of Fallot OMIM:601005
Bile Acid Synthesis Defect, Congenital, 2
Jaundice, Intrahepatic cholestasis, Splenomegaly, Hepatomegaly OMIM:235555
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Hypochromic microcytic anemia, B lymphocytopenia, Cardiomyopathy, Sideroblastic anemia, Nephrocal... OMIM:616084
Lymphatic Filariasis
Abnormality of the kidney, Lymphangiectasis, Hematuria, Lymphadenopathy, Urethral obstruction, Ab... ORPHA:2035
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Elevated urinary aminoisobutyric acid, Microphthalmia, Beta-alaninuria, Elevated urinary 3-hydrox... OMIM:614105
Gaucher Disease, Type I
Hepatomegaly, Anemia, Pancytopenia, Aortic valve stenosis, Thrombocytopenia, Splenomegaly, Hypers... OMIM:230800
Hemophagocytic Lymphohistiocytosis, Familial, 2
Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Pancytopenia, Lymphadenopathy, Leukopenia, Sple... OMIM:603553
Coronary Arterial Fistula
Atrial septal defect, Cardiomegaly, Bacterial endocarditis, Patent foramen ovale, Aortic valve st... ORPHA:2041
Caroli Disease
Cirrhosis, Jaundice, Intrahepatic cholestasis, Cholangitis, Cholelithiasis, Hepatomegaly, Liver a... ORPHA:53035
Meckel Syndrome
Situs inversus totalis, Microphthalmia, Ureteral duplication, Accessory spleen, Anophthalmia, Pan... ORPHA:564
Glycogen Storage Disease Ixc
Cirrhosis, Hepatomegaly, Increased hepatic glycogen content, Bile duct proliferation, Splenomegaly OMIM:613027
Marden-Walker Syndrome
Microphthalmia, Dextrocardia, Hypospadias, Renal hypoplasia, Micropenis OMIM:248700
Elliptocytosis 1
Elliptocytosis, Jaundice, Splenomegaly, Hemolytic anemia OMIM:611804
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hepatomegaly, Jaundice, Hemophagocytosis, Anemia, Lymphadenopathy, Leukopenia, Splenomegaly, Thro... OMIM:267700
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic l... ORPHA:98849
Autoimmune Hemolytic Anemia, Warm Type
Autoimmune hemolytic anemia, Jaundice, Chronic lymphatic leukemia, Splenomegaly, Abnormal urinary... ORPHA:90033
Craniotelencephalic Dysplasia
Optic nerve hypoplasia, Microphthalmia OMIM:218670
Baraitser-Winter Syndrome 1
Aortic valve stenosis, Bicuspid aortic valve, Microphthalmia, Micropenis OMIM:243310
Overhydrated Hereditary Stomatocytosis
Jaundice, Hepatomegaly, Increased mean corpuscular volume, Reticulocytosis, Prolonged neonatal ja... OMIM:185000
Melkersson-Rosenthal Syndrome
Oligosacchariduria, Lymphadenopathy ORPHA:2483
Kapur-Toriello Syndrome
Microphthalmia, Ventricular septal defect, Tetralogy of Fallot, Hypoplasia of penis ORPHA:2328
Gaucher Disease Type 1
Cirrhosis, Hepatomegaly, Hematuria, Anemia, Cholelithiasis, Pancytopenia, Biliary tract obstructi... ORPHA:77259
Sarcoidosis, Susceptibility To, 2
Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly OMIM:612387
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Enlarged tons... OMIM:606367
Cyclic Neutropenia
Lymphadenopathy, Recurrent tonsillitis, Decreased eosinophil count, Thrombocytopenia, Peritonitis... ORPHA:2686
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Splenic cyst, Polycystic kidney dysplasia, Pancreatic hypoplasia, Cholestasis, Panc... OMIM:610199
Cirrhotic Cardiomyopathy
Left atrial enlargement, Cirrhosis, Jaundice, Hepatomegaly, Ascites, Right atrial enlargement, Le... ORPHA:57777
Proteasome-Associated Autoinflammatory Syndrome 2
Lymphadenopathy, B lymphocytopenia, Thrombocytopenia, Decreased proportion of memory B cells, Inc... OMIM:618048
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
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Splenomegaly, Leukocytosis OMIM:618042
Bile Acid Synthesis Defect, Congenital, 1
Cirrhosis, Jaundice, Intrahepatic cholestasis, Giant cell hepatitis, Hepatomegaly, Splenomegaly, ... OMIM:607765
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Anemia, Lymphadenopathy, Thrombocytopenia, Splenomegaly, Lymphopenia OMIM:617591
Anemia, Congenital Dyserythropoietic, Type Ia
Hepatomegaly, Macrocytic dyserythropoietic anemia, Anemia of inadequate production, Bite cells, R... OMIM:224120
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Atrial septal defect, Microphthalmia, Anemia, Accessory spleen, Patent foramen ovale, Portal hype... OMIM:620005
Immunodeficiency, Common Variable, 8, With Autoimmunity
Autoimmune hemolytic anemia, Lymphadenopathy, Pancytopenia, Decreased proportion of class-switche... OMIM:614700
Congenital Disorder Of Glycosylation, Type It
Intrahepatic cholestasis, Hepatomegaly, Increased hepatic glycogen content, Hepatitis, Chronic he... OMIM:614921
Frontonasal Dysplasia 1
Microphthalmia, Tetralogy of Fallot OMIM:136760
17Q12 Microduplication Syndrome
Atrial septal defect, Microphthalmia ORPHA:261272
Meige Disease
Absence of lymph node germinal center, Lymph node hypoplasia ORPHA:90186
Duane-Radial Ray Syndrome
Renal malrotation, Microphthalmia, Optic disc hypoplasia, Vesicoureteral reflux, Renal agenesis, ... OMIM:607323
Acute Promyelocytic Leukemia
Hematuria, Anemia, Lymphadenopathy, Pancytopenia, Leukocytosis, Leukopenia, Thrombocytopenia, Neu... ORPHA:520
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Microphthalmia ORPHA:324416
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Microphthalmia ORPHA:48431
Kaposi Sarcoma
Abnormality of the liver, Generalized lymphadenopathy, Abnormality of the spleen ORPHA:33276
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Anemia, Ascites, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly, Cardiomegaly OMIM:608013
Budd-Chiari Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Ascites, Portal hypertension, Splenomegaly, Peritonitis, Chole... ORPHA:131
Fucosidosis
Mucopolysacchariduria, Abnormality of the gallbladder, Cardiomegaly, Hepatomegaly ORPHA:349
Oculocerebrocutaneous Syndrome
Microphthalmia, Anophthalmia OMIM:164180
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative bur... OMIM:233690
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Cholestatic liver disease, Cirrhosis, Hepatomegaly, Anemia, Lymphadenopathy, Accessory spleen, Mi... OMIM:619418
Immunodeficiency 36 With Lymphoproliferation
Chronic lymphatic leukemia, B lymphocytopenia, Increased proportion of transitional B cells, Decr... OMIM:616005
Fetal Cytomegalovirus Syndrome
Jaundice, Anemia, Hepatomegaly, Thrombocytopenia, Splenomegaly, Hepatitis ORPHA:294
Developmental Delay With Variable Neurologic And Brain Abnormalities
Microphthalmia OMIM:619694
Middle Ear Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100084
Spondylo-Ocular Syndrome
Microphthalmia, Ventricular septal defect, Aplasia/Hypoplasia of the lens ORPHA:85194
Cerebrooculofacioskeletal Syndrome 2
Microphthalmia, Micropenis OMIM:610756
Isolated Right Ventricular Hypoplasia
Muscular ventricular septal defect, Patent foramen ovale, Right atrial enlargement, Cardiomegaly,... ORPHA:439
Acquired Hypertrichosis Lanuginosa
Lymphadenopathy ORPHA:2221
Agammaglobulinemia, X-Linked
Anemia, B lymphocytopenia, Recurrent urinary tract infections, Hepatocellular carcinoma, Enterovi... OMIM:300755
Lymphangioleiomyomatosis
Renal neoplasm, Hematuria, Lymphadenopathy, Chylopericardium, Abnormality of the lymphatic system... ORPHA:538
Multiple Myeloma
Acute kidney injury, Anemia, Lymphadenopathy, Abnormality of the bladder, Nephrotic syndrome, Spl... ORPHA:29073
Bile Acid Synthesis Defect, Congenital, 3
Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Acholic stools, Bile duct proliferat... OMIM:613812
Hereditary Spherocytosis
Jaundice, Hepatomegaly, Anemia, Cholelithiasis, Spontaneous hemolytic crises, Increased mean corp... ORPHA:822
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microphthalmia OMIM:251270
Hyperimmunoglobulinemia D With Periodic Fever
Hepatomegaly, Lymphadenopathy, Peritonitis ORPHA:343
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Abnormal atrioventricular valve morphology, Cardiomegaly, Mitral valve pro... ORPHA:324410
Familial Mediterranean Fever
Pancreatitis, Lymphadenopathy, Leukocytosis, Ascites, Nephrotic syndrome, Pericarditis, Nephrocal... ORPHA:342
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Chronic hemolytic anemia, Microvesicular hepatic steatosis, Ventricular hypertrophy... OMIM:618278
Lethal Congenital Contracture Syndrome 10
Cardiomegaly, Overriding aorta, Ventricular septal defect, Hypoplasia of the thymus OMIM:617022
Mogs-Cdg
Hepatomegaly, Thrombocytopenia, Hepatosplenomegaly, Left ventricular hypertrophy, Cardiomegaly, A... ORPHA:79330
Glycogen Storage Disease Ii
Cardiomegaly, Urinary incontinence, Splenomegaly, Hepatomegaly OMIM:232300
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Splenomegaly, Anemia, Hemophagocytosis, Pancytopenia OMIM:618398
Scheie Syndrome
Mucopolysacchariduria, Hepatomegaly, Splenomegaly ORPHA:93474
Poems Syndrome
Hepatomegaly, Lymphadenopathy, Visceromegaly, Ascites, Pericardial effusion, Polycythemia, Spleno... ORPHA:2905
Proteus Syndrome
Enlarged kidney, Long penis, Neoplasm of the thymus, Renal cyst, Enlarged polycystic ovaries, Lym... ORPHA:744
Temtamy Syndrome
Microphthalmia ORPHA:1777
Dehydrated Hereditary Stomatocytosis
Macrocytic anemia, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Increased... ORPHA:3202
Waldenström Macroglobulinemia
Normocytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Abnormality of neutrophils, Renal... ORPHA:33226
Braddock-Carey Syndrome 2
Microphthalmia, Thrombocytopenia OMIM:619981
Autoimmune Hepatitis
Cirrhosis, Jaundice, Sclerosing cholangitis, Acute hepatitis, Fulminant hepatitis, Hepatocellular... ORPHA:2137
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Pancytopenia, Lymphocytosis, Bone marrow hypocellularity, Splenomegaly, A... ORPHA:86843
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia OMIM:600776
Neuroendocrine Tumor Of The Colon
Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulmonary valve cusp morphology ORPHA:100080
Basel-Vanagaite-Smirin-Yosef Syndrome
Microphthalmia, Hypospadias, Hydronephrosis, Atrial septal defect, Ventricular septal defect OMIM:616449
Infantile Liver Failure Syndrome 3
Jaundice, Hepatomegaly, Cholestasis, Hepatic bridging fibrosis, Splenomegaly, Hepatic steatosis OMIM:618641
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Nephroblastoma, Renal hypoplasia, Splenomegaly OMIM:612918
Syndromic Diarrhea
Bicuspid aortic valve, Cirrhosis, Hepatomegaly, Atrial septal defect, Polycystic kidney dysplasia... ORPHA:84064
Squamous Cell Carcinoma Of The Anal Canal
Neoplasm of the liver, Lymphadenopathy ORPHA:424019
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Situs inversus totalis, Microphthalmia, Optic nerve hypoplasia OMIM:614833
Joubert Syndrome 14
Microphthalmia, Ventricular septal defect, Renal cyst OMIM:614424
Aorta Coarctation
Perimembranous ventricular septal defect, Cardiomegaly, Abnormal left ventricular outflow tract m... ORPHA:1457
Acute Generalized Exanthematous Pustulosis
Lymphadenopathy, Cholestasis, Leukocytosis, Neutrophilia, Eosinophilia, Renal insufficiency, Neut... ORPHA:293173
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, 3-Methylglutaconic aciduria, Cardiomyopathy, Increased hepatic glycogen content OMIM:619259
Familial Pancreatic Carcinoma
Jaundice, Lymphadenopathy, Peritoneal abscess, Hepatosplenomegaly, Exocrine pancreatic insufficie... ORPHA:1333
Stevenson-Carey Syndrome
Recurrent urinary tract infections, Atrial septal defect, Microphthalmia OMIM:611961
Adams-Oliver Syndrome
Cirrhosis, Microphthalmia, Ascites, Portal hypertension, Thrombocytopenia, Leukopenia, Congenital... ORPHA:974
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Urachus fistula, Hepatomegaly, Anemia, Erythroid hypoplasia, Recurrent urinary tract infections, ... OMIM:612541
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Increased mean corpuscular volume, Portal hypertension, Thrombocytopenia, Splenomegaly, Nodular r... OMIM:620367
Lissencephaly 8
Microphthalmia OMIM:617255
Ring Chromosome 10 Syndrome
Microphthalmia, Renal hypoplasia/aplasia ORPHA:1438
Sandestig-Stefanova Syndrome
Perimembranous ventricular septal defect, Muscular ventricular septal defect, Microphthalmia OMIM:618804
Kikuchi-Fujimoto Disease
Myocarditis, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymph node morphology, Lymphocytosis... ORPHA:50918
Aregenerative Anemia
Erythroid hypoplasia, Lymphadenopathy, Pancytopenia, Abnormal proportion of CD8-positive T cells,... ORPHA:101096
Chronic Granulomatous Disease
Liver abscess, Mediastinal lymphadenopathy, Hepatomegaly, Splenomegaly, Abnormality of neutrophils ORPHA:379
Periodic Fever, Familial, Autosomal Dominant
Hepatic amyloidosis, Hepatomegaly, Cervical lymphadenopathy OMIM:142680
Gaucher Disease Type 3
Hepatomegaly, Hematuria, Anemia, Pancytopenia, Abnormal heart valve morphology, Aortic valve calc... ORPHA:77261
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Optic nerve hypoplasia, Microphthalmia OMIM:615181
Thyroid Lymphoma
Lymphadenopathy ORPHA:97285
Familial Tumoral Calcinosis
Nephrocalcinosis, Splenomegaly, Hepatomegaly ORPHA:53715
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Pancytopenia, Renal artery aneurysm, Leukocytosis, Portal ... OMIM:615688
Kapur-Toriello Syndrome
Microphthalmia, Micropenis, Atrial septal defect, Ventricular septal defect, Abnormality of the u... OMIM:244300
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Mosaic Trisomy 1
Microphthalmia, Renal cortical cysts, Renal cyst, Hepatic agenesis, Penile hypospadias, Ventricul... ORPHA:1692
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Increased B cell count, Absent peripheral lymph nodes in presence of infection, Increased T cell ... ORPHA:98813
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia ORPHA:1135
Cockayne Syndrome Type 3
Microphthalmia, Hepatomegaly, Hydroureter, Unilateral renal agenesis, Neurogenic bladder, Cardiom... ORPHA:90324
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Hepatomegaly, Mediastinal lymphadenopathy, Hilar lymph node enlargement, Cholestasis, Leukocytosi... OMIM:620233
Fucosidosis
Hepatomegaly, Vacuolated lymphocytes, Glycopeptiduria, Splenomegaly, Cardiomegaly, Oligosaccharid... OMIM:230000
Baraitser-Winter Syndrome 2
Microphthalmia OMIM:614583
Congenital Syphilis
Myocarditis, Pancreatitis, Anemia, Lymphadenopathy, Nephrotic syndrome, Prolonged neonatal jaundi... ORPHA:499009
Autoimmune Lymphoproliferative Syndrome
Lymphocytosis, Reticulocytosis, Bone marrow hypocellularity, Splenomegaly, Lymphopenia, Hepatocel... ORPHA:3261
Acro-Renal-Ocular Syndrome
Microphthalmia, Renal hypoplasia/aplasia, Optic disc hypoplasia, Vesicoureteral reflux, Tetralogy... ORPHA:959
Fryns Syndrome
Microphthalmia, Hypospadias, Vesicoureteral reflux, Hydronephrosis, Tetralogy of Fallot, Multicys... ORPHA:2059
Moebius Syndrome
Microphthalmia, Micropenis OMIM:157900
Hennekam Syndrome
Ectopic kidney, Lymphadenopathy, Ascites, Pericardial effusion, Lymphangioma, Splenomegaly, Pulmo... ORPHA:2136
Microphthalmia, Syndromic 8
Microphthalmia OMIM:601349
Beck-Fahrner Syndrome
Cardiomegaly, Ventricular septal defect OMIM:618798
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly OMIM:613320
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Microphthalmia, Abnormal heart morphology, Ventricular septal defect ORPHA:404440
Beta-Thalassemia Major
Anisopoikilocytosis, Cirrhosis, Jaundice, Hepatomegaly, Hypochromic microcytic anemia, Decreased ... ORPHA:231214
Hartsfield Syndrome
Microphthalmia ORPHA:2117
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Microphthalmia, Oligosacchariduria ORPHA:163649
Tangier Disease
Anemia, Chronic noninfectious lymphadenopathy, Coronary artery stenosis, Orange discolored tonsil... ORPHA:31150
Hardikar Syndrome
Intrahepatic bile duct dilatation, Cholestasis, Prolonged neonatal jaundice, Splenomegaly, Hypers... OMIM:301068
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Jaundice, Hepatomegaly, Sclerosing cholangitis, Intrahepatic biliary atresia, Cholestasis, Portal... OMIM:607626
Congenital Muscular Dystrophy With Cerebellar Involvement
Optic nerve hypoplasia, Microphthalmia, Cardiomyopathy ORPHA:370959
Cerebrooculofacioskeletal Syndrome 1
Microphthalmia OMIM:214150
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Jaundice, Hepatomegaly, Generalized aminoaciduria, Periportal fibrosis, Ascites, Portal hypertens... OMIM:251880
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Bilateral microphthalmos, Patent foramen ovale, Abnormal heart morphology, Ventricular septal defect ORPHA:369891
Meckel Syndrome 14
Polycystic kidney dysplasia, Hepatic fibrosis, Microphthalmia, Single ventricle OMIM:619879
Granulomatous Disease, Chronic, X-Linked
Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Ascites, Splenomegaly, Impaired oxid... OMIM:306400
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia ORPHA:2788
Common Variable Immunodeficiency
Lymphadenopathy, Splenomegaly, Lymphopenia, Abnormality of the liver, Autoimmune thrombocytopenia... ORPHA:1572
Anaplastic Thyroid Carcinoma
Lymphadenopathy ORPHA:142
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Perimembranous ventricular septal defect, Atrioventricular canal defect, Microphthalmia, Hypospad... ORPHA:508498
Neuroendocrine Tumor Of The Rectum
Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulmonary valve cusp morphology ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulmonary valve cusp morphology ORPHA:100082
Neuroblastoma
Elevated urinary catecholamine level, Elevated urinary vanillylmandelic acid, Lymphadenopathy, An... ORPHA:635
Acute Interstitial Pneumonia
Pericardial effusion, Reduced hematocrit, Lymphadenopathy ORPHA:79126
Craniofaciofrontodigital Syndrome
Cardiomegaly, Abnormal heart valve morphology, Aortic valve stenosis, Pericardial effusion, Bicus... ORPHA:363705
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomegaly, Urinary incontinence, Cardiomyopathy OMIM:105210
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Renal dysplasia, Microphthalmia, Abnormal heart morphology OMIM:618571
Glycogen Storage Disease Xii
Normocytic anemia, Jaundice, Hepatomegaly, Decreased erythrocyte fructose-1,6-bisphosphate aldola... OMIM:611881
3Q29 Microdeletion Syndrome
Microphthalmia, Subvalvular aortic stenosis, Horseshoe kidney, Hypospadias ORPHA:65286
Microphthalmia, Isolated 8
Optic nerve hypoplasia, Microphthalmia, True anophthalmia, Anophthalmia OMIM:615113
Hyperparathyroidism, Neonatal Severe
Polyuria, Hepatomegaly, Anemia, Hypercalciuria, Hyperphosphaturia, Splenomegaly, Aminoaciduria OMIM:239200
Medullary Thyroid Carcinoma
Abnormal liver parenchyma morphology, Lymphadenopathy ORPHA:1332
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Cardiomegaly, Abnormal thymus morphology ORPHA:2463
Congenital Disorder Of Glycosylation, Type Iq
Microphthalmia, Microcytic anemia OMIM:612379
Microphthalmia, Syndromic 5
Optic nerve hypoplasia, Microphthalmia, Micropenis, Anophthalmia OMIM:610125
Chromosome 17Q12 Duplication Syndrome
Atrial septal defect, Microphthalmia OMIM:614526
Familial Mediterranean Fever
Hepatomegaly, Leukocytosis, Nephrotic syndrome, Pericarditis, Neutrophilia, Splenomegaly, Periton... OMIM:249100
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Complete Atrioventricular Septal Defect
Displacement of the papillary muscles, Hepatomegaly, Primum atrial septal defect, Right ventricul... ORPHA:1329
Teebi-Shaltout Syndrome
Microphthalmia, Ureteral stenosis, Aortic valve stenosis, Hydronephrosis, Ventricular septal defe... OMIM:272950
Micro Syndrome
Abnormal localization of kidney, Hydronephrosis, Microphthalmia, Hypoplasia of penis ORPHA:2510
Basel-Vanagaite-Smirin-Yosef Syndrome
Microphthalmia, Hypospadias, Cholelithiasis, Male urethral meatus stenosis, Hydronephrosis, Atria... ORPHA:464738
Bronchial Neuroendocrine Tumor
Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulmonary valve cusp morphology ORPHA:97287
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Cardiomegaly, Oligosacch... ORPHA:308552
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Autoimmune hemolytic anemia, Iron deficiency anemia, Lymphadenopathy, Reduced proportion of CD4-n... ORPHA:37042
Ileal Neuroendocrine Tumor
Lymphadenopathy, Iron deficiency anemia, Tricuspid stenosis, Pulmonic stenosis, Hydronephrosis, E... ORPHA:100078
Mucopolysaccharidosis Type 3
Hepatomegaly, Abnormal aortic valve morphology, Recurrent tonsillitis, Mucopolysacchariduria, Abn... ORPHA:581
Brucellosis
Myocarditis, Liver abscess, Anemia, Hepatomegaly, Lymphadenopathy, Abnormal aortic valve morpholo... ORPHA:1304
Graft Versus Host Disease
Jaundice, Lymphadenopathy, Hemophagocytosis, Acute hepatitis, Chronic hepatitis, Hepatosplenomegaly ORPHA:39812
Fanconi Anemia, Complementation Group L
Microphthalmia, Anemia, Unilateral renal agenesis, Renal hypoplasia, Bone marrow hypocellularity,... OMIM:614083
Histiocytoid Cardiomyopathy
Microphthalmia, Hepatomegaly, Congenital aphakia, Renal cyst, Cardiomegaly, Ventricular septal de... ORPHA:137675
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Pancreatitis, Splenomegaly OMIM:207750
Microphthalmia, Lenz Type
Microphthalmia, Renal hypoplasia/aplasia, Hydroureter, Hypospadias, Hydronephrosis ORPHA:568
Chromosome 13Q33-Q34 Deletion Syndrome
Penoscrotal transposition, Microphthalmia, Hypospadias, Pulmonic stenosis, Left ventricular hyper... OMIM:619148
Fryns Syndrome
Microphthalmia, Ureteral duplication, Hypospadias, Renal cyst, Renal agenesis, Hydronephrosis, Ec... OMIM:229850
Degcags Syndrome
Microphthalmia, Cholestasis, Abnormal spleen morphology, Pulmonic stenosis, Leukopenia, Congenita... OMIM:619488
Gray Platelet Syndrome
Thrombocytopenia, Splenomegaly, Abnormal number of alpha granules OMIM:139090
Meckel Syndrome, Type 1
Microphthalmia, Accessory spleen, Polycystic kidney dysplasia, Abnormality of the ureter, Aspleni... OMIM:249000
Pancreatoblastoma
Jaundice, Abnormal lymph node morphology, Pancreatic calcification ORPHA:677
Focal Dermal Hypoplasia
Microphthalmia, Renal hypoplasia/aplasia, Hypoplasia of the iris, Hydronephrosis, Ventricular sep... ORPHA:2092
Warburg Micro Syndrome 4
Microphthalmia, Micropenis OMIM:615663
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
3P25.3 Microdeletion Syndrome
Pulmonic stenosis, Atrial septal defect, Ventricular septal defect, Microphthalmia ORPHA:435638
Pulmonary Capillary Hemangiomatosis
Pericardial effusion, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:199241
Trichothiodystrophy 3, Photosensitive
Microphthalmia, Neutropenia, Abdominal adhesions, Lymphopenia OMIM:616395
Isolated Biliary Atresia
Cirrhosis, Jaundice, Hepatomegaly, Periportal fibrosis, Cholestasis, Bile duct proliferation, Atr... ORPHA:30391
Danon Disease
Myocardial necrosis, Hypertrophic cardiomyopathy, Myocardial fibrosis, Cardiomegaly, Dilated card... OMIM:300257
Arterial Calcification, Generalized, Of Infancy, 1
Cardiomegaly, Dilated cardiomyopathy, Renal artery stenosis OMIM:208000
Pallister-Hall Syndrome
Microphthalmia, Hydroureter, Ectopic kidney, Renal cyst, Distal urethral duplication, Renal hypop... OMIM:146510
Microphthalmia/Coloboma 12
Optic nerve aplasia, Microphthalmia, Vesicoureteral reflux OMIM:120200
Farber Disease
Anemia, Lymphadenopathy, Intrahepatic cholestasis with episodic jaundice, Ascites, Hepatosplenome... ORPHA:333
Fanconi Anemia, Complementation Group S
Microphthalmia, Anemia OMIM:617883
Liver Disease, Severe Congenital
Left atrial enlargement, Lymphocytosis, Ascites, Biliary hyperplasia, Leukopenia, Splenomegaly, C... OMIM:619991
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Abnormally large globe, Patent foramen ovale, Mitral valve prolapse, Left ... OMIM:245600
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Lymphadenopathy, Leukocytosis, Pericarditis, Splenomegaly, Peritonitis, Abnormal myocardium morph... ORPHA:32960
1Q21.1 Microdeletion Syndrome
Abnormal cardiac septum morphology, Microphthalmia, Hydronephrosis, Vesicoureteral reflux ORPHA:250989
Primary Hepatic Neuroendocrine Carcinoma
Hepatomegaly, Biliary tract obstruction, Intrahepatic cholestasis with episodic jaundice, Intermi... ORPHA:100085
Autoinflammatory Disease, Systemic, With Vasculitis
Jaundice, Hepatomegaly, Anemia, Increased B cell count, Cholestasis, Increased T cell count, Leuk... OMIM:620376
22Q11.2 Deletion Syndrome
Microphthalmia, Tricuspid atresia, Abnormal aortic valve morphology, Hypospadias, Cholelithiasis,... ORPHA:567
Fanconi Anemia
Microphthalmia, Renal hypoplasia/aplasia, Abnormal renal morphology, Leukopenia, Abnormal cardiac... ORPHA:84
Oculofaciocardiodental Syndrome
Microphthalmia, Mitral valve prolapse, Abnormal cardiac septum morphology ORPHA:2712
Chédiak-Higashi Syndrome
Jaundice, Anemia, Hemophagocytosis, Increased proportion of CD25+ mast cells, Pancytopenia, Abnor... ORPHA:167
Holoprosencephaly
Microphthalmia, Hypoplasia of penis, Anophthalmia, Tetralogy of Fallot, Abnormality of the spleen... ORPHA:2162
Hereditary Elliptocytosis
Jaundice, Cholelithiasis, Reticulocytosis, Poikilocytosis, Prolonged neonatal jaundice, Elliptocy... ORPHA:288
Adams-Oliver Syndrome 2
Microphthalmia OMIM:614219
Martsolf Syndrome 1
Cardiomyopathy, Microphthalmia, Micropenis OMIM:212720
Tetraamelia-Multiple Malformations Syndrome
Microphthalmia, Multicystic kidney dysplasia, Septo-optic dysplasia ORPHA:3301
Immunodeficiency 31C
Autoimmune hemolytic anemia, Hepatomegaly, Impaired lymphocyte transformation with phytohemagglut... OMIM:614162
Anterior Segment Dysgenesis 5
Rieger anomaly, Microphthalmia, Hypoplasia of the fovea, Hypoplasia of the iris OMIM:604229
Warburg Micro Syndrome 3
Microphthalmia, Micropenis OMIM:614222
Neurodegeneration And Seizures Due To Copper Transport Defect
Glandular hypospadias, Cardiomegaly OMIM:620306
Microphthalmia, Syndromic 11
Microphthalmia OMIM:614402
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Pancreatitis, Vacuolated lymphocytes, Renal artery atherosclerosis, Cardiomyopathy,... ORPHA:565612
Heart And Brain Malformation Syndrome
Microphthalmia, Ventricular septal defect OMIM:616920
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Renal artery stenosis, Renal hypoplasia, Nephrocalcinosis, Hydronephrosis, Splenomegaly, Aminoaci... OMIM:617913
Naxos Disease
Right ventricular cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Abnormal h... OMIM:601214
Joubert Syndrome 2
Microphthalmia, Nephronophthisis, Renal insufficiency, Renal cyst OMIM:608091
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Cardiomegaly, Pollakisuria, Right ventricular hypertrophy ORPHA:268
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Autoimmune hemolytic anemia, Hepatomegaly, Minimal change glomerulonephritis, Leukocytosis, Neutr... OMIM:620565
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Microphthalmia, Transposition of the great arteries, Pulmonic stenosis, Myocardial fibrosis, Atri... OMIM:253800
Galloway-Mowat Syndrome 3
Microphthalmia, Glomerular sclerosis, Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuri... OMIM:617729
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Microphthalmia OMIM:152950
Monosomy 18P
Microphthalmia ORPHA:1598
Walker-Warburg Syndrome
Microphthalmia, Anophthalmia, Hypoplasia of penis ORPHA:899
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Lymphadenopathy, Neutrophilia, Leukocytosis, Increased proportion of CD4-positive T cells OMIM:617099
Malakoplakia
Hematuria, Dysuria, Urinary hesitancy, Urinary urgency, Proteinuria, Follicular hyperplasia, Urin... ORPHA:556
X-Linked Dominant Chondrodysplasia Punctata
Microphthalmia, Hydronephrosis ORPHA:35173
Frontonasal Dysplasia 3
Microphthalmia OMIM:613456
Fetal Alcohol Syndrome
Atrial septal defect, Microphthalmia ORPHA:1915
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia OMIM:601794
Truncus Arteriosus
Transposition of the great arteries, Abnormal heart valve morphology, Truncus arteriosus, Hypopla... ORPHA:3384
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia ORPHA:363741
Spondyloenchondrodysplasia With Immune Dysregulation
Lymphadenopathy, Tubulointerstitial fibrosis, T lymphocytopenia, Lymphopenia, Autoimmune thromboc... OMIM:607944
Myoclonic-Astatic Epilepsy
Microphthalmia ORPHA:1942
Temtamy Syndrome
Microphthalmia OMIM:218340
Coccidioidomycosis
Abnormality of the kidney, Mediastinal lymphadenopathy, Pancreatitis, Lymphadenopathy, Abnormalit... ORPHA:228123
Cantú Syndrome
Cardiomegaly, Abnormal heart valve morphology, Hypertrophic cardiomyopathy ORPHA:1517
Holoprosencephaly-Postaxial Polydactyly Syndrome
Microphthalmia, Renal hypoplasia/aplasia, Hypospadias, Hypoplasia of penis, Abnormal localization... ORPHA:2166
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Increased mean platelet volume, Thrombocytopenia, Splenomegaly, Stomatocytosis, Hemolytic anemia OMIM:153670
Tetraamelia Syndrome 1
Renal agenesis, Asplenia, Microphthalmia, Urethral atresia OMIM:273395
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Microphthalmia, Micropenis OMIM:241410
Garg-Mishra Progeroid Syndrome
Microvesicular hepatic steatosis, Microphthalmia OMIM:620601
Double Outlet Left Ventricle
Pulmonary valve atresia, Double outlet left ventricle, Tricuspid atresia, Bicuspid pulmonary valv... ORPHA:3427
Linear Skin Defects With Multiple Congenital Anomalies 1
Microphthalmia, Hypospadias, Histiocytoid cardiomyopathy, Chordee, Overriding aorta, Atrial septa... OMIM:309801
Cerebrooculofacioskeletal Syndrome 4
Bilateral microphthalmos, Abnormal heart morphology OMIM:610758
Ritscher-Schinzel Syndrome 3
Microphthalmia, Atrioventricular canal defect OMIM:619135
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Portal hypertension, Biliary hyperplasia, Sple... ORPHA:567983
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia OMIM:167730
Jacobsen Syndrome
Annular pancreas, Microphthalmia, Hypospadias, Thrombocytopenia, Atrial septal defect, Ventricula... OMIM:147791
Nance-Horan Syndrome
Microphthalmia ORPHA:627
Mycophenolate Mofetil Embryopathy
Microphthalmia, Ventricular septal defect, Ectopic kidney ORPHA:268249
Cutaneous Neuroendocrine Carcinoma
Lymphoid leukemia, Chronic noninfectious lymphadenopathy ORPHA:79140
Aicardi-Goutieres Syndrome 7
Hepatomegaly, Anemia, Pancytopenia, Hypertrophic cardiomyopathy, Hepatitis, Nephrotic syndrome, P... OMIM:615846
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Microphthalmia, Abnormal cardiac septum morphology ORPHA:1352
Microphthalmia, Syndromic 3
Microphthalmia, Hypospadias, Anophthalmia, Optic nerve hypoplasia, Optic nerve aplasia, Ventricul... OMIM:206900
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Microphthalmia, Abnormally large globe OMIM:615249
Mosaic Variegated Aneuploidy Syndrome
Microphthalmia, Ascites, Acute lymphoblastic leukemia, Nephroblastoma, Atrial septal defect, Mult... ORPHA:1052
Multiple Benign Circumferential Skin Creases On Limbs
Microphthalmia, Hypospadias ORPHA:2505
Joubert Syndrome 21
Hyperechogenic kidneys, Splenomegaly, Renal cyst, Anophthalmia OMIM:615636
Steinfeld Syndrome
Absent gallbladder, Microphthalmia, Abnormal heart morphology, Unilateral renal dysplasia OMIM:184705
Idiopathic Hypereosinophilic Syndrome
Portal fibrosis, Cholangitis, Generalized lymphadenopathy, Pancreatitis, Anemia, Myocardial eosin... ORPHA:3260
Trichothiodystrophy 4, Nonphotosensitive
Microphthalmia, Ventricular septal defect OMIM:234050
T-Cell Immunodeficiency With Thymic Aplasia
Lymphadenopathy, Recurrent urinary tract infections, Decreased proportion of naive T cells, T lym... ORPHA:83471
Chromosome 1Q41-Q42 Deletion Syndrome
Microphthalmia, Ventricular septal defect OMIM:612530
Galloway-Mowat Syndrome 1
Microphthalmia, Focal segmental glomerulosclerosis, Hypoplasia of the iris, Nephrotic syndrome, P... OMIM:251300
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Cardiomegaly, Partial atrioventricular canal defect, Secundum atrial septal defect, Bicuspid aort... OMIM:620066
Autosomal Dominant Keratitis
Bilateral microphthalmos, Aniridia, Hypoplastic iris stroma, Hypoplasia of the fovea, Macular hyp... ORPHA:2334
Pierson Syndrome
Microphthalmia, Hypoplasia of the ciliary body, Hypoplasia of the iris, Nephrotic syndrome, Riege... OMIM:609049
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Unilateral microphthalmos, Hypospadias, Mitral valve prolapse OMIM:618874
Neuroendocrine Tumor Of Stomach
Hepatomegaly, Iron deficiency anemia, Chronic noninfectious lymphadenopathy, Abnormal pulmonary v... ORPHA:100075
Immunodeficiency 87 And Autoimmunity
Autoimmune hemolytic anemia, Atrial septal defect, Jaundice, Hepatomegaly, Decreased CD4:CD8 rati... OMIM:619573
Deafness, X-Linked 7
Unilateral microphthalmos OMIM:301018
Bartsocas-Papas Syndrome 2
Microphthalmia OMIM:619339
Hydrolethalus
Microphthalmia, Anophthalmia ORPHA:2189
Behçet Disease
Glomerulopathy, Pancreatitis, Lymphadenopathy, Pericarditis, Endocarditis, Splenomegaly, Abnormal... ORPHA:117
Lethal Acantholytic Erosive Disorder
Cardiomegaly, Cardiomyopathy ORPHA:158687
Warburg Micro Syndrome 2
Microphthalmia, Micropenis OMIM:614225
Cockayne Syndrome B
Microphthalmia, Hepatomegaly, Renal insufficiency, Hypoplasia of the iris, Splenomegaly, Proteinu... OMIM:133540
Hyperlipoproteinemia, Type Id
Hepatomegaly, Pancreatitis, Splenomegaly, Recurrent pancreatitis OMIM:615947
Hyperlipoproteinemia, Type I
Jaundice, Acute pancreatitis, Splenomegaly, Hepatosplenomegaly OMIM:238600
3Q29 Microduplication Syndrome
Microphthalmia, Ventricular septal defect, Aniridia ORPHA:251038
Trisomy 18
Microphthalmia, Abnormality of the upper urinary tract, Hydronephrosis, Atrial septal defect, Ven... ORPHA:3380
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Annular pancreas, Microphthalmia, Hypospadias, Patent foramen ovale, Vesicoureteral reflux, Renal... OMIM:616975
Developmental And Epileptic Encephalopathy 95
Cardiomegaly, Hepatomegaly OMIM:618143
Hydrolethalus Syndrome 1
Microphthalmia, Hypospadias, Accessory spleen, Hydronephrosis, Ventricular septal defect, Complet... OMIM:236680
Okamoto Syndrome
Urinary incontinence, Abnormal left ventricle morphology, Abnormally large globe, Primum atrial s... ORPHA:2729
Gallbladder Neuroendocrine Tumor
Biliary tract obstruction, Intermittent jaundice, Chronic noninfectious lymphadenopathy, Ascites,... ORPHA:100086
Igg4-Related Submandibular Gland Disease
Abnormality of the kidney, Cholangitis, Abnormal pancreas morphology, Renal insufficiency, Lympha... ORPHA:449432
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Microphthalmia OMIM:300863
Chondrodysplasia Punctata 2, X-Linked Dominant
Microphthalmia, Hydronephrosis OMIM:302960
Congenital Primary Aphakia
Microphthalmia, Aniridia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenita... ORPHA:83461
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Microphthalmia ORPHA:228390
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent peripheral lymph nodes in pres... OMIM:600802
Cohen Syndrome
Microphthalmia, Ventricular septal defect, Mitral valve prolapse, Neutropenia ORPHA:193
Cockayne Syndrome
Microphthalmia, Urinary incontinence, Hepatomegaly, Unilateral renal agenesis, Neurogenic bladder... ORPHA:191
Microphthalmia With Limb Anomalies
Microphthalmia, Anophthalmia OMIM:206920
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Pancreatitis, Splenic cyst, Patent foramen ovale, Hepatic sinusoidal dilatation, Cardiomegaly OMIM:620371
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Atrial septal dilatation, Abnormality of the hepatic vasculature, Right atrial enla... ORPHA:1677
Otodental Syndrome
Microphthalmia, Lens coloboma ORPHA:2791
Sarcoidosis
Abnormal liver parenchyma morphology, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymph node ... ORPHA:797
Immunodeficiency 55
Absent natural killer cells, Neutropenia, Lymphadenopathy, Lymphopenia OMIM:617827
Microphthalmia With Brain And Digit Anomalies
Microphthalmia, Anophthalmia ORPHA:139471
Frontofacionasal Dysplasia
Microphthalmia ORPHA:1791
Selective Igm Deficiency
Decreased proportion of CD8-positive T cells, Lymphadenopathy, Decreased proportion of CD3-positi... ORPHA:331235
Carney Triad
Lymphadenopathy, Ascites, Mediastinal lymphadenopathy, Anemia ORPHA:139411
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Anemia, Lymphadenopathy, Splenomegaly, Abnormal pulmonary valve morphology ORPHA:667
Aicardi-Goutières Syndrome
Chronic lymphatic leukemia, Neonatal alloimmune thrombocytopenia, Hypertrophic cardiomyopathy, Pr... ORPHA:51
Charge Syndrome
Atrial septal defect, Microphthalmia, Anophthalmia, Dysplastic tricuspid valve, Unilateral microp... OMIM:214800
Lipodystrophy, Congenital Generalized, Type 2
Cirrhosis, Hepatomegaly, Ventricular septal hypertrophy, Acute pancreatitis, Nephrolithiasis, Hyp... OMIM:269700
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Lymphadenopathy, Hepatosplenomegaly, Anemia ORPHA:85408
Blau Syndrome
Anemia, Lymphadenopathy, Pericarditis, Clear cell renal cell carcinoma, Splenomegaly, Abnormality... ORPHA:90340
Anterior Segment Dysgenesis 2
Microphthalmia, Anterior segment of eye aplasia, Congenital aphakia, Aniridia OMIM:610256
Malt Lymphoma
Mediastinal lymphadenopathy, Anemia, Lymphadenopathy ORPHA:52417
Kawasaki Disease
Myocarditis, Cervical lymphadenopathy, Jaundice, Abnormal heart valve morphology, Leukocytosis, D... ORPHA:2331
8Q21.11 Microdeletion Syndrome
Microphthalmia, Hypoplasia of penis ORPHA:284160
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Buphthalmos, Microphthalmia OMIM:212550
Bohring-Opitz Syndrome
Annular pancreas, Cholelithiasis, Cardiomegaly, Urinary retention, Nephroblastoma, Abnormal cardi... ORPHA:97297
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Renal hypoplasia, Microphthalmia, Renal cyst OMIM:616300
Crimean-Congo Hemorrhagic Fever
Myocarditis, Jaundice, Hematuria, Hepatomegaly, Lymphadenopathy, Pancytopenia, Acute pancreatitis... ORPHA:99827
Solitary Median Maxillary Central Incisor
Microphthalmia, Anophthalmia OMIM:147250
Cornea Plana 2, Autosomal Recessive
Microphthalmia OMIM:217300
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Microphthalmia, Renal hypoplasia/aplasia, Tetralogy of Fallot, Abnormal localization of kidney, A... ORPHA:3186
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia OMIM:269400
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Microphthalmia, Tetralogy of Fallot, Absent gallbladder, Micropenis, Complete atrioventricular ca... OMIM:617925
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Microphthalmia ORPHA:163966
Atelis Syndrome 2
Microphthalmia, Anemia, Supravalvar pulmonary stenosis, Pulmonic stenosis, Thrombocytopenia OMIM:620185
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Lymphadenopathy, Lymphocytosis, Decreased mean platelet volume, Thrombocytopenia, Cervical lympha... OMIM:617718
Sarcoidosis, Susceptibility To, 1
Hepatomegaly, Mediastinal lymphadenopathy, Pancytopenia, Hypercalciuria, Pericardial effusion, Sp... OMIM:181000
Tropical Endomyocardial Fibrosis
Left atrial enlargement, Endocardial fibrosis, Hepatomegaly, Right ventricular cardiomyopathy, Re... ORPHA:75565
Chromosome 8Q21.11 Deletion Syndrome
Microphthalmia, Micropenis OMIM:614230
Abetalipoproteinemia
Cirrhosis, Hepatomegaly, Anemia, Reticulocytosis, Cardiomegaly, Hepatic fibrosis, Hepatic steatos... ORPHA:14
Congenital Tracheomalacia
Abnormal heart morphology, Tetralogy of Fallot, Partial anomalous pulmonary venous return, Cardio... ORPHA:95430
Exudative Vitreoretinopathy 2, X-Linked
Microphthalmia OMIM:305390
Linear Skin Defects With Multiple Congenital Anomalies 3
Histiocytoid cardiomyopathy, Dilated cardiomyopathy, Microphthalmia OMIM:300952
Williams Syndrome
Hypoplasia of penis, Pulmonic stenosis, Nephrocalcinosis, Multiple renal cysts, Mitral valve prol... ORPHA:904
Rodrigues Blindness
Microphthalmia OMIM:268320
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microphthalmia, Hypospadias, Anophthalmia OMIM:615877
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Optic nerve hypoplasia, Bilateral microphthalmos OMIM:607597
Joint Contractures, Osteochondromas, And B-Cell Lymphoma
Generalized lymphadenopathy OMIM:620232
Oculocerebrorenal Syndrome Of Lowe
Abnormal renal tubule morphology, Glomerulopathy, Microphthalmia, Hematuria, Anemia, Hypercalciur... ORPHA:534
Microphthalmia With Linear Skin Defects Syndrome
Epispadias, Tricuspid valve prolapse, Microphthalmia, Hypospadias, Anophthalmia, Hypertrophic car... ORPHA:2556
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Microphthalmia OMIM:620098
Nasopalpebral Lipoma-Coloboma Syndrome
Bilateral microphthalmos, Microphthalmia ORPHA:2399
Interatrial Communication
Atrial septal defect, Sinus venosus atrial septal defect, Primum atrial septal defect, Secundum a... ORPHA:1478
Pelvis-Shoulder Dysplasia
Microphthalmia OMIM:169550
Absence Of The Pulmonary Artery
Patent foramen ovale, Truncus arteriosus, Abnormal heart morphology, Tetralogy of Fallot, Cardiom... ORPHA:980
Renpenning Syndrome 1
Situs inversus totalis, Microphthalmia, Hypospadias, Phimosis, Renal hypoplasia, Tetralogy of Fal... OMIM:309500
Pelvis-Shoulder Dysplasia
Bilateral microphthalmos, Hydronephrosis ORPHA:2839
Vitreoretinochoroidopathy
Microphthalmia OMIM:193220
Primary Sjögren Syndrome
Abnormality of the kidney, Normocytic anemia, Lymphadenopathy, Normochromic anemia, Chronic activ... ORPHA:289390
Curry-Jones Syndrome
Microphthalmia ORPHA:1553
Townes-Brocks Syndrome
Abnormality of the kidney, Microphthalmia, Hypospadias, Ectopic kidney, Hypoplasia of penis, Vesi... ORPHA:857
Proteasome-Associated Autoinflammatory Syndrome 1
Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Splenomegaly, Cardiomegaly, Microcytic anemia OMIM:256040
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microphthalmia ORPHA:231736
Treacher-Collins Syndrome
Microphthalmia, Hypoplasia of the thymus, Hypoplasia of penis ORPHA:861
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Microphthalmia OMIM:617306
Systemic Lupus Erythematosus
Hematuria, Lymphadenopathy, Pyuria, Leukopenia, Proteinuria, Thrombocytopenia, Hemolytic anemia, ... ORPHA:536
Leptospirosis
Acute kidney injury, Jaundice, Hepatomegaly, Lymphadenopathy, Cellular urinary casts, Pericarditi... ORPHA:509
Fraser Syndrome 1
Bilateral microphthalmos, Renal hypoplasia/aplasia, Hypospadias, Anophthalmia, Renal hypoplasia, ... OMIM:219000
Dubowitz Syndrome
Aplastic anemia, Microphthalmia, Hypospadias, Hypoplasia of the iris, Acute lymphoblastic leukemia OMIM:223370
Ohdo Syndrome, X-Linked
Microphthalmia, Micropenis OMIM:300895
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Microphthalmia, Patent foramen ovale, Prolonged neonatal jaundice, Right ventricular hypertrophy,... OMIM:620186
Cousin Syndrome
Microphthalmia, Hydronephrosis OMIM:260660
Yunis-Varon Syndrome
Microphthalmia, Bilateral microphthalmos, Hypospadias, Renal artery stenosis, Cardiomyopathy, Ren... ORPHA:3472
Familial Exudative Vitreoretinopathy
Microphthalmia ORPHA:891
2Q31.1 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect, Microphthalmia ORPHA:251014
Proboscis Lateralis
Microphthalmia, Unilateral renal agenesis, Anophthalmia, Optic nerve hypoplasia, Ureteral agenesi... ORPHA:141099
Microphthalmia, Syndromic 2
Microphthalmia, Hypospadias, Dextrocardia, Anophthalmia, Pulmonic stenosis, Aortic valve stenosis... OMIM:300166
Microphthalmia/Coloboma 9
Microphthalmia OMIM:615145
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Microphthalmia, Hypospadias, Total anomalous pulmonary venous return, Atrial septal defect, Micro... OMIM:609945
Oculodentodigital Dysplasia
Atrial septal defect, Neurogenic bladder, Microphthalmia OMIM:164200
Phace Association
Optic nerve hypoplasia, Microphthalmia, Ventricular septal defect OMIM:606519
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hepatomegaly, Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Cardiomegaly, Oligosacch... ORPHA:365
Vacterl With Hydrocephalus
Renal agenesis, Microphthalmia, Renal hypoplasia/aplasia, Anophthalmia ORPHA:3412
Lymphedema-Distichiasis Syndrome
Microphthalmia, Ventricular septal defect, Tetralogy of Fallot OMIM:153400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Microphthalmia OMIM:616538
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Microphthalmia, Anophthalmia, Hypoplasia of penis ORPHA:2250
Bartsocas-Papas Syndrome 1
Patent foramen ovale, Microphthalmia, Micropenis, Ectopic kidney OMIM:263650
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Phace Syndrome
Microphthalmia, Optic nerve hypoplasia, Abnormal heart morphology, Tetralogy of Fallot, Lens colo... ORPHA:42775
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Patent foramen ovale, Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, R... OMIM:300967
Ectodermal Dysplasia-Blindness Syndrome
Microphthalmia ORPHA:1806
Immunodeficiency 82 With Systemic Inflammation
Anemia, Lymphadenopathy, B lymphocytopenia, Decreased proportion of naive T cells, T lymphocytope... OMIM:619381
Marburg Hemorrhagic Fever
Jaundice, Pancreatitis, Lymphadenopathy, Neutrophilia in presence of infection, Abnormal lymphocy... ORPHA:99826
Monosomy 9Q22.3
Cardiac fibroma, Microphthalmia, Nephroblastoma ORPHA:77301
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
Oculodentodigital Dysplasia, Autosomal Recessive
Microphthalmia OMIM:257850
8Q24.3 Microdeletion Syndrome
Abnormality of the kidney, Bilateral microphthalmos, Atrioventricular canal defect, Unilateral re... ORPHA:508488
Paternal Uniparental Disomy Of Chromosome 6
Cardiomegaly, Hepatomegaly, Ventricular septal defect ORPHA:96191
Charge Syndrome
Microphthalmia, Abnormal aortic valve morphology, Anophthalmia, Vesicoureteral reflux, Hydronephr... ORPHA:138
Adams-Oliver Syndrome 1
Microphthalmia, Pulmonic stenosis, Aortic valve stenosis, Tetralogy of Fallot, Bicuspid aortic va... OMIM:100300
Neuroendocrine Neoplasm Of Appendix
Tricuspid stenosis, Hepatomegaly, Chronic noninfectious lymphadenopathy ORPHA:100079
Frontonasal Dysplasia 2
Microphthalmia OMIM:613451
Trichothiodystrophy 1, Photosensitive
Microphthalmia OMIM:601675
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Renal dysplasia, Optic nerve hypoplasia, Microphthalmia, Buphthalmos OMIM:236670
Chromosome 13Q14 Deletion Syndrome
Patent foramen ovale, Ventricular septal defect, Micropenis, Microphthalmia OMIM:613884
Roberts Syndrome
Polycystic kidney dysplasia, Microphthalmia, Thrombocytopenia, Long penis ORPHA:3103
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Abnormal renal collecting system morphology, Bilateral microphthalmos, Unilateral renal agenesis,... ORPHA:468631
Skin Creases, Congenital Symmetric Circumferential, 1
Microphthalmia OMIM:156610
Multiple Endocrine Neoplasia Type 2
Elevated urinary catecholamine level, Elevated urinary vanillylmandelic acid, Hypercalciuria, Ele... ORPHA:653
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Cardiomegaly ORPHA:91387
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Norrie Disease
Buphthalmos, Microphthalmia, Hypoplasia of the iris OMIM:310600
Basal Cell Nevus Syndrome 1
Cardiac fibroma, Microphthalmia, Cardiac rhabdomyoma OMIM:109400
Congenital Total Pulmonary Venous Return Anomaly
Infracardiac total anomalous pulmonary venous connection, Atrial situs ambiguous, Transposition o... ORPHA:99125
Cherubism
Submandibular lymph node enlargement OMIM:118400
Trichothiodystrophy
Bilateral microphthalmos, Anemia, Increased mean corpuscular hemoglobin concentration, Cardiomyop... ORPHA:33364
Incontinentia Pigmenti
Hypoplasia of the fovea, Eosinophilia, Microphthalmia, Leukocytosis OMIM:308300
Nance-Horan Syndrome
Microphthalmia OMIM:302350
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Microphthalmia, Increased hepatic echogenicity OMIM:608940
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Buphthalmos, Microphthalmia OMIM:613150
Persistent Hyperplastic Primary Vitreous
Phthisis bulbi, Microphthalmia, Buphthalmos, Macular hypoplasia ORPHA:91495
Microcephaly-Micromelia Syndrome
Microphthalmia OMIM:251230
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Atrial septal defect, Microphthalmia, Leukemia, Anophthalmia ORPHA:2526
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia OMIM:248450
African Trypanosomiasis
Myocarditis, Jaundice, Urinary incontinence, Lymphadenopathy, Hepatomegaly, Pericarditis, Hepatos... ORPHA:3385
Mend Syndrome
Aortic valve stenosis, Microphthalmia, Abnormal heart morphology ORPHA:401973
Microphthalmia With Limb Anomalies
Microphthalmia, True anophthalmia, Horseshoe kidney ORPHA:1106
Frontorhiny
Microphthalmia ORPHA:391474
Fontaine Progeroid Syndrome
Microphthalmia, Abnormal heart morphology, Left ventricular hypertrophy, Bicuspid aortic valve, A... OMIM:612289
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Medullary nephrocalcinosis, Ascites, Hyperphosphaturia, Pericardial effu... ORPHA:51608
Premature Aging Syndrome, Penttinen Type
Microphthalmia OMIM:601812
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Microphthalmia OMIM:618727
Incontinentia Pigmenti
Eosinophilia, Microphthalmia ORPHA:464
Roberts-Sc Phocomelia Syndrome
Microphthalmia, Hypospadias, Long penis, Accessory spleen, Polycystic kidney dysplasia, Biliary t... OMIM:268300
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Microphthalmia, Urinary incontinence, Hypospadias, Multicystic kidney dysplasia, Pelvic kidney, V... ORPHA:261537
Oculopalatocerebral Syndrome
Microphthalmia OMIM:257910
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Optic nerve hypoplasia, Microphthalmia OMIM:614643
Monosomy 9P
Microphthalmia, Ureteropelvic junction obstruction, Hypospadias ORPHA:261112
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Phthisis bulbi, Microphthalmia, Buphthalmos OMIM:221900
Myhre Syndrome
Microphthalmia, Aortic valve stenosis, Pericardial effusion, Atrial septal defect, Ventricular se... OMIM:139210
Hallermann-Streiff Syndrome
Microphthalmia OMIM:234100
Igg4-Related Dacryoadenitis And Sialadenitis
Thrombocytopenia, Retroperitoneal fibrosis, Lymphadenopathy, Tubulointerstitial nephritis ORPHA:79078
Mowat-Wilson Syndrome
Abnormality of the kidney, Microphthalmia, Urinary incontinence, Hypospadias, Multicystic kidney ... ORPHA:2152
Skin Creases, Congenital Symmetric Circumferential, 2
Ureterocele, Microphthalmia, Hypospadias OMIM:616734
Xeroderma Pigmentosum, Complementation Group B
Microphthalmia OMIM:610651
Bosma Arhinia Microphthalmia Syndrome
Microphthalmia, Micropenis, Hypospadias OMIM:603457
Lowe Oculocerebrorenal Syndrome
Low-molecular-weight proteinuria, Bicarbonaturia, Microphthalmia, Hyperphosphaturia, Renal Fancon... OMIM:309000
Oculoauricular Syndrome
Microphakia, Phthisis bulbi, Microphthalmia, Macular hypoplasia OMIM:612109
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Microphthalmia, Urinary incontinence, Hypospadias, Multicystic kidney dysplasia, Pelvic kidney, V... ORPHA:261552
Igg4-Related Ophthalmic Disease
Abnormality of the kidney, Pancreatitis, Cholangitis, Lymphadenopathy, Eosinophilia, Retroperiton... ORPHA:449563
Xeroderma Pigmentosum, Complementation Group D
Microphthalmia OMIM:278730
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Microphthalmia ORPHA:85167
Momo Syndrome
Bilateral microphthalmos ORPHA:2563
Branchiooculofacial Syndrome
Microphthalmia, Hypospadias, Anophthalmia, Duplication of internal organs, Renal cyst, Renal agen... OMIM:113620
Hallermann-Streiff Syndrome
Microphthalmia, Abdominal situs inversus ORPHA:2108
Rothmund-Thomson Syndrome, Type 2
Annular pancreas, Microphthalmia OMIM:268400
Traboulsi Syndrome
Microphthalmia, Homocystinuria OMIM:601552
Holoprosencephaly 1
Microphthalmia, Micropenis, Single ventricle OMIM:236100
Adenocarcinoma Of The Anal Canal
Neoplasm of the liver, Lymphadenopathy ORPHA:424016
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Microphthalmia ORPHA:364577
Pallister-Hall Syndrome
Microphthalmia, Atrioventricular canal defect, Ectopic kidney, Hypospadias, Unilateral renal agen... ORPHA:672
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Microphthalmia, Ventricular septal hypertrophy, Ventricular septal defect OMIM:608670
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Microphthalmia ORPHA:1236
Focal Dermal Hypoplasia
Microphthalmia, Ureteral duplication, Aniridia, Anophthalmia, Hydronephrosis, Bifid ureter, Horse... OMIM:305600
Curry-Jones Syndrome
Microphthalmia OMIM:601707
Plague
Hepatomegaly, Lymphadenitis, Splenomegaly, Enlarged mesenteric lymph node, Endocarditis ORPHA:707
Blepharophimosis, Ptosis, And Epicanthus Inversus
Microphthalmia OMIM:110100
Osteoporosis-Pseudoglioma Syndrome
Phthisis bulbi, Microphthalmia, Ventricular septal defect OMIM:259770
Kenny-Caffey Syndrome, Type 2
Microphthalmia, Anemia OMIM:127000
Mowat-Wilson Syndrome
Abnormality of the kidney, Microphthalmia, Hypospadias, Pulmonic stenosis, Abnormal heart morphol... OMIM:235730
Aicardi Syndrome
Hepatoblastoma, Microphthalmia ORPHA:50
Chikungunya
Cervical lymphadenopathy, Lymphadenopathy ORPHA:324625
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Perimembranous ventricular septal defect, Transposition of the great arteries, Muscular ventricul... OMIM:612474
Cushing Syndrome Due To Ectopic Acth Secretion
Abnormal lymph node morphology, Pancreatic adenocarcinoma, Decreased eosinophil count, Leukocytos... ORPHA:99889
Fraser Syndrome
Microphthalmia, Renal hypoplasia/aplasia, Hypospadias, Hypoplasia of penis, Anophthalmia, Urethra... ORPHA:2052
Aicardi Syndrome
Hepatoblastoma, Microphthalmia OMIM:304050
Holoprosencephaly 9
Optic nerve hypoplasia, Microphthalmia, Micropenis, Anophthalmia OMIM:610829
Neu-Laxova Syndrome 1
Microphthalmia, Transposition of the great arteries, Patent foramen ovale, Renal agenesis, Ventri... OMIM:256520
Acrofrontofacionasal Dysostosis 1
Microphthalmia OMIM:201180
Oculo-Palato-Cerebral Syndrome
Microphthalmia ORPHA:2714
Linear Nevus Sebaceus Syndrome
Microphthalmia ORPHA:2612
Craniofacial Microsomia 1
Microphthalmia, Ectopic kidney, Anophthalmia, Vesicoureteral reflux, Renal agenesis, Ureteropelvi... OMIM:164210
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Microphthalmia, Tetralogy of Fallot ORPHA:306542
Holoprosencephaly 7
Bilateral microphthalmos, Microphthalmia OMIM:610828
Isolated Arrhinia
Microphthalmia ORPHA:1134
Witteveen-Kolk Syndrome
Microphthalmia, Hypospadias, Phimosis, Microphallus, Male urethral meatus stenosis OMIM:613406
Microphthalmia, Syndromic 6
Renal hypoplasia, Microphthalmia, Anophthalmia OMIM:607932
Neuroocular Syndrome
Patent foramen ovale, Microphthalmia, Hypoplasia of the fovea, Lens coloboma OMIM:619539
Microphthalmia, Syndromic 1
Microphthalmia, Renal hypoplasia/aplasia, Hydroureter, Hypospadias, Anophthalmia, Renal hypoplasi... OMIM:309800
Treacher Collins Syndrome 1
Bilateral microphthalmos, Abnormal heart morphology OMIM:154500
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Buphthalmos, Microphthalmia, Hypoplasia of the retina OMIM:253280
Singleton-Merten Syndrome 1
Mitral valve calcification, Aortic valve stenosis, Aortic valve calcification, Cardiomegaly, Subv... OMIM:182250
Monosomy 13Q14
Microphthalmia ORPHA:1587
Autosomal Dominant Kenny-Caffey Syndrome
Bilateral microphthalmos, Anemia ORPHA:93325
Frontofacionasal Dysplasia
Microphthalmia OMIM:229400
Holoprosencephaly 2
Microphthalmia, Single ventricle OMIM:157170
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Microphthalmia, Hemolytic anemia, Hypoplasia of the iris OMIM:175780
Norrie Disease
Microphthalmia, Hypoplasia of the iris, Aplasia/Hypoplasia of the lens ORPHA:649

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 Gm10800

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 Gm10800.

No publications found that use IMPC mice or data for Gm10800.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Gm10800em1(IMPC)Mbp Whole-gene deletion Mice, Tissue

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