Gene Summary

Name:
exostosin-like glycosyltransferase 3
Synonyms:
2900009G18Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal spleen morphology Extl3em1(IMPC)Mbp HET Late adult 0.00
small kidney Extl3em1(IMPC)Mbp HET Late adult 0.00
embryonic lethality prior to organogenesis Extl3em1(IMPC)Mbp HOM   E9.5 0.00
abnormal liver morphology Extl3em1(IMPC)Mbp HET Late adult 0.00
small testis Extl3em1(IMPC)Mbp HET Late adult 0.00
abnormal testis morphology Extl3em1(IMPC)Mbp HET Late adult 0.00
preweaning lethality, complete penetrance Extl3em1(IMPC)Mbp HOM   Early adult 0.00
abnormal prostate gland morphology Extl3em1(IMPC)Mbp HET Late adult 0.00
abnormal skin morphology Extl3em1(IMPC)Mbp HET Late adult 0.00
abnormal eye morphology Extl3em1(IMPC)Mbp HET Early adult 0.00
abnormal kidney morphology Extl3em1(IMPC)Mbp HET Late adult 0.00
enlarged spleen Extl3em1(IMPC)Mbp HET Late adult 0.00
enlarged liver Extl3em1(IMPC)Mbp HET Late adult 0.00
microphthalmia Extl3em1(IMPC)Mbp HET Early adult 0.00

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

36 Images

X-ray

XRay Images Whole Body Dorso Ventral

84 Images

X-ray

XRay Images Whole Body Lateral Orientation

32 Images

X-ray

XRay Images Whole Body Lateral Orientation

12 Images

Human diseases caused by Extl3 mutations

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

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

The table below shows human diseases associated to Extl3 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Horseshoe kidney, Hepatomegaly, Hypereosinophilia, Decreased proportion of CD4-positive helper T ... ORPHA:508533
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Hepatic cysts, Eosinophilia, Lymphopenia OMIM:617425

The table below shows human diseases predicted to be associated to Extl3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:294
Macrosomia With Microphthalmia, Lethal
Microphthalmia OMIM:248110
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Nanophthalmos 4
Microphthalmia OMIM:615972
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Retinitis Pigmentosa 59
Hepatomegaly, Micropenis, Elevated hepatic transaminase, Cryptorchidism, Renal insufficiency OMIM:613861
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Microphthalmia, Isolated, With Coloboma 6
Optic disc hypoplasia, Bilateral microphthalmos, Hypoplasia of the fovea OMIM:613703
Glycine N-Methyltransferase Deficiency
Elevated hepatic transaminase, Hepatomegaly OMIM:606664
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Congenital Disorder Of Glycosylation, Type Icc
Hepatomegaly OMIM:301031
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Gombo Syndrome
Microphthalmia OMIM:233270
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia OMIM:610092
Microphthalmia, Isolated, With Coloboma 10
Anophthalmia, Microphthalmia OMIM:616428
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Nephronophthisis 19
Hepatomegaly, Hepatic fibrosis, Bile duct proliferation, Nephronophthisis, Stage 5 chronic kidney... OMIM:616217
Tyrosinemia Type 1
Hepatomegaly, Generalized aminoaciduria, Hepatocellular carcinoma, Splenomegaly, Acute hepatic fa... ORPHA:882
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Hypochromia, Azoospermia, Anemia, Splenomegaly, Hypogonadism, Poikilocytosis, Decre... OMIM:615234
Microphthalmia, Isolated, With Coloboma 5
Anophthalmia, Bilateral microphthalmos, Microphthalmia OMIM:611638
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly ORPHA:79281
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid, Splenomegaly OMIM:206400
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Hepatic fibrosis, Splenomegaly, Hepatic steatosis, Elevated hepatic transaminase OMIM:614480
Hemoglobin H Disease
Hepatomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Splenomegaly, Hemolytic anemia OMIM:613978
Hemochromatosis, Type 2B
Hepatomegaly, Secondary amenorrhea, Hepatic fibrosis, Anemia, Splenomegaly, Cirrhosis, Hypogonadi... OMIM:613313
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Hypogonadism, Male
Testicular atrophy, Micropenis, Male hypogonadism, Hypospadias OMIM:241100
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Splenomegaly, Abnormal calcium-phosphate regulating hormone level, Abnormality of t... ORPHA:417
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cystic renal dysplasia, Hepatomegaly, Cryptorchidism, Ectopic kidney OMIM:613730
Immunodeficiency 48
Hepatomegaly, Splenomegaly OMIM:269840
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Isolated Splenogonadal Fusion
Abnormal penis morphology, Unilateral cryptorchidism, Abnormality of the scrotum, Abnormality of ... ORPHA:457083
Microphthalmia, Isolated 3
Anophthalmia, Microphthalmia OMIM:611038
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Congenital Disorder Of Glycosylation, Type Iir
Hypospadias, Hepatomegaly, Ascites, Micronodular cirrhosis, Decreased liver function, Hepatic ste... OMIM:301045
Nanophthalmos
Microphthalmia ORPHA:35612
Glycogen Storage Disease Ixb
Hepatomegaly, Increased hepatic glycogen content OMIM:261750
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Lymphadenopathy, Hepatomegaly, T lymphocytopenia, Splenomegaly OMIM:608971
Galactosemia Iii
Hepatomegaly, Splenomegaly, Aminoaciduria, Galactosuria, Jaundice OMIM:230350
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Lymphadenopathy, Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly OMIM:618495
Hemochromatosis, Type 1
Testicular atrophy, Hepatomegaly, Hepatocellular carcinoma, Ascites, Amenorrhea, Azoospermia, Hyp... OMIM:235200
Sea-Blue Histiocyte Disease
Cirrhosis, Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Alpha-Heavy Chain Disease
Hepatomegaly, Ascites, Lymphadenopathy, Anemia, Splenomegaly, Premature ovarian insufficiency ORPHA:100025
Hyperlipoproteinemia, Type Id
Hepatomegaly, Splenomegaly OMIM:615947
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy, Bone marrow hypocellularity, Cirrhosis, Pancytopenia, Thrombocytopenia OMIM:613987
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Persistence of hemoglobin F, Splenomegaly, Microcytic anemia, Erythrocyte inclusion... OMIM:603902
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly ORPHA:52416
Hyperbilirubinemia, Shunt, Primary
Hepatomegaly, Erythroid hyperplasia, Splenomegaly, Reticulocytosis, Anemia of inadequate producti... OMIM:237800
Galactose Epimerase Deficiency
Jaundice, Hepatomegaly, Aminoaciduria, Splenomegaly ORPHA:79238
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Primary adrenal insufficiency, Hypogonadism, Hepatic steatosis, Hepatic failure, Pa... OMIM:617872
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Erythroid hyperplasia, Leukemia, Anemia, Splenomegaly, Acute myeloid leukemia, Thro... OMIM:133180
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Amyloidosis, Familial Visceral
Hepatomegaly, Nephrotic syndrome, Hematuria, Splenomegaly, Cholestasis, Nephropathy, Proteinuria OMIM:105200
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Hemochromatosis, Type 2A
Hepatomegaly, Infertility, Amenorrhea, Azoospermia, Hypogonadotropic hypogonadism, Splenomegaly, ... OMIM:602390
Congenital Primary Aphakia
Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Microphthalmia ORPHA:83461
Congenital Bile Acid Synthesis Defect Type 1
Hepatomegaly, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Elevated hepatic trans... ORPHA:79301
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Hypersplenism, Decreased helper T cell proportion, Splenomegaly OMIM:183350
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Neutropenia, Leukopenia, Anemia, Splenomegaly, Extramedullary hematopoiesis, Thromb... OMIM:615285
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Hepatomegaly OMIM:605911
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Portal fibrosis, Bile duct proliferation, Splenomegaly, Cirrhosis, Elevated hepatic... OMIM:602347
Splenoportal Vascular Anomalies
Anomalous splenoportal venous system, Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis, Diabete... OMIM:271500
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Lymphadenopathy, Bence Jones Proteinuria, Anemia, Splenomega... ORPHA:100024
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hepatomegaly, Splenomegaly OMIM:618541
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia ORPHA:2432
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Lymphadenopathy, Splenomegaly, Microcytic anemia, Recurrent tonsillitis OMIM:618852
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia OMIM:616570
Bilateral Striopallidodentate Calcinosis
Abnormality of the liver, Hepatomegaly, Thrombocytopenia ORPHA:1980
Portal Hypertension, Noncirrhotic, 1
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Isolated Follicle Stimulating Hormone Deficiency
Oligospermia, Abnormal sperm morphology, Testicular atrophy, Oligomenorrhea, Azoospermia, Hypogon... ORPHA:52901
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Congenital Disorder Of Glycosylation, Type Ik
Hypogonadism, Hepatomegaly, Splenomegaly OMIM:608540
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hepatic fibrosis, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, El... OMIM:619658
Foveal Hypoplasia 2
Microphthalmia, Hypoplasia of the fovea OMIM:609218
Hemoglobin D Disease
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... ORPHA:90039
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Hypochromia, Type II diabetes mellitus, Elevated hepatic iron concentration, Erythr... OMIM:616860
Trimethylaminuria
Trimethylaminuria, Neutropenia, Anemia, Splenomegaly OMIM:602079
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Eosinophilia, Myeloproliferative disorder, Splenomegaly OMIM:607685
Alpha-Thalassemia
Anemia, Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hypersplenism, Microcytic anemia, Hemo... ORPHA:846
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphadenopathy, Hepatitis, Splenomegaly, Autoimmune thrombocytopenia, Lymphopenia, Hemolytic ane... ORPHA:444463
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Splenomegaly, Reticulocytosis, Anemia of inadequate production, Jaundice OMIM:224100
Bone Marrow Failure Syndrome 5
Testicular atrophy, Pure red cell aplasia, Anemia, Hypogonadism OMIM:618165
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Iron deficiency anemia, Splenomegaly, Hepatic fa... OMIM:616278
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Polycystic ovaries, Pancreatitis, Hepatic steatosis, Diabetes mellitus, Hyperinsuli... ORPHA:79084
Systemic Primary Carnitine Deficiency
Elevated hepatic transaminase, Hepatomegaly ORPHA:158
Mast Cell Sarcoma
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Mastocytosis ORPHA:66661
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hepatomegaly OMIM:615158
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Erythroid hyperplasia, Anemia, Splenomegaly, Reticulocytosis, Anemia of inadequate ... OMIM:613673
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatomegaly, Hepatic fibrosis, Hepatic failure, Splenomegaly OMIM:616719
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Elevated hepatic trans... OMIM:214900
Peroxisome Biogenesis Disorder 6A (Zellweger)
Decreased liver function, Hepatomegaly, Renal cyst OMIM:614870
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Acholic stools, Biliary tract abnormality, Abnormality of urine homeostasis, Abnorm... ORPHA:1414
Glycogen Storage Disease Vi
Elevated hepatic transaminase, Hepatomegaly, Increased hepatic glycogen content OMIM:232700
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Splenomegaly, Cirrhosis, Cholestasis, Elevated hepatic transaminase, Biliary cirrho... OMIM:617394
Congenital Varicella Syndrome
Microphthalmia ORPHA:291
Glycogen Storage Disease Ixa1
Elevated hepatic transaminase, Hepatomegaly OMIM:306000
Congenital Disorder Of Glycosylation, Type Ii
Hepatomegaly OMIM:607906
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Hypospadias, Abnormality of the ureter, Ascites, Anemia, Splenomegaly, Hypoplasia of penis ORPHA:1046
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:86893
Isolated Polycystic Liver Disease
Hepatomegaly, Multiple renal cysts, Polycystic liver disease, Abnormality of the pancreas ORPHA:2924
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly OMIM:609016
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Decreased proportion of class-switched memory B cells, Decreased proportion of marg... OMIM:619375
Niemann-Pick Disease, Type B
Hepatomegaly, Bone-marrow foam cells, Sea-blue histiocytosis, Splenomegaly OMIM:607616
Coproporphyria, Hereditary
Hepatomegaly, Splenomegaly, Increased urinary porphobilinogen, Elevated urinary delta-aminolevuli... OMIM:121300
Combined Saposin Deficiency
Hepatomegaly, Splenomegaly OMIM:611721
Congenital Disorder Of Glycosylation, Type Iio
Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Cirrhosis, Cholestatic liver disease, ... OMIM:616828
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Splenomegaly, Hypogonadism, Decreased testicular size, Decreased serum testosterone... OMIM:201100
Sandhoff Disease
Hepatomegaly, Splenomegaly ORPHA:796
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Neutropenia, Lymphadenopathy, Anemia, Splenomegaly, Thrombocytopenia, Hemophagocyto... OMIM:603552
Cholesteryl Ester Storage Disease
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatic failure, Adrenal calcification, Jaundice ORPHA:75234
Immunodeficiency 16
Coombs-positive hemolytic anemia, Pancytopenia, Splenomegaly OMIM:615593
Glycosylphosphatidylinositol Biosynthesis Defect 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Fryns Microphthalmia Syndrome
Anophthalmia, Microphthalmia OMIM:600776
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Progressive Familial Intrahepatic Cholestasis
Jaundice, Hepatomegaly, Cholestasis, Splenomegaly ORPHA:172
Alpha-1-Antitrypsin Deficiency
Hepatomegaly, Nephrotic syndrome, Hepatitis, Hepatic failure, Jaundice ORPHA:60
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Microphthalmia OMIM:120433
Mmep Syndrome
Microphthalmia ORPHA:3434
Galactosemia I
Hepatomegaly, Aminoaciduria, Increased level of galactitol in urine, Cirrhosis, Decreased liver f... OMIM:230400
Beta-Thalassemia
Hepatomegaly, Hypogonadotropic hypogonadism, Hepatitis, Abnormal hemoglobin, Cholelithiasis, Anem... ORPHA:848
Peroxisome Biogenesis Disorder 8A (Zellweger)
Jaundice, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration OMIM:614876
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Hypospadias, Hepatomegaly, Cryptorchidism, 3-Methylglutaconic aciduria OMIM:604273
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Pancreatic cysts, Hepatic cysts, Tubulointerstitial fibrosis, Renal cyst, Splenomeg... OMIM:263200
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased B cell count, Hepatomegaly, Decreased proportion of class-switched memory B cells, Medi... OMIM:615559
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia OMIM:278780
Beta-Thalassemia Intermedia
Adrenal insufficiency, Splenomegaly, Hepatosplenomegaly, Diabetes mellitus, Anemia of inadequate ... ORPHA:231222
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Increased hepatic glycogen content, Hepatocellul... ORPHA:369
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Neutropenia, Monocytosis, Leukemia, Splenomegaly, Autoimmune thrombocytopenia, Lymp... OMIM:614470
Hepatic Veno-Occlusive Disease
Hepatomegaly, Ascites, Elevated hepatic transaminase, Renal insufficiency, Jaundice ORPHA:890
Spermatogenic Failure, X-Linked, 2
Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Anemia, Congenital Dyserythropoietic, Type Ib
Hepatomegaly, Erythroid hyperplasia, Anemia, Splenomegaly, Anisocytosis, Poikilocytosis, Reticulo... OMIM:615631
Biliary Atresia, Extrahepatic
Hepatomegaly, Portal fibrosis, Acholic stools, Atretic gallbladder, Bile duct proliferation, Cirr... OMIM:210500
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Anemia, Splenomegaly, Hypersplenism, Thrombocytopenia OMIM:610539
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Splenomegaly, Hepatic steatosis, Hepatosplenomegaly, Primary amenorrhea, Diabetes m... OMIM:612526
Diffuse Neonatal Hemangiomatosis
Hepatomegaly, Abnormal vagina morphology, Ascites, Anemia, Thrombocytopenia, Renal insufficiency ORPHA:2123
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Splenomegaly OMIM:179700
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Elevated hepatic transaminase, Hepatomegaly, Lymphadenopathy OMIM:615895
Symptomatic Form Of Hemochromatosis Type 1
Testicular atrophy, Hepatomegaly, Infertility, Cholangiocarcinoma, Hepatocellular carcinoma, Amen... ORPHA:465508
Dextrocardia With Unusual Facies And Microphthalmia
Anophthalmia, Microphthalmia OMIM:221950
Cyanosis, Transient Neonatal
Hepatomegaly, Methemoglobinemia, Anemia, Reticulocytosis, Jaundice OMIM:613977
Harderoporphyria
Hemolytic anemia, Hepatomegaly, Splenomegaly, Increased urinary porphobilinogen, Reticulocytosis,... OMIM:618892
Multiple Symmetric Lipomatosis
Hepatomegaly ORPHA:2398
Hepatitis, Fulminant Viral, Susceptibility To
Hepatomegaly, Fulminant hepatitis, Type I diabetes mellitus, Hepatic failure, Elevated hepatic tr... OMIM:618549
Osteopetrosis, Autosomal Dominant 3
Anemia, Hepatomegaly, Hyperparathyroidism, Splenomegaly OMIM:618107
Galactosemia
Hepatomegaly, Secondary amenorrhea, Oligomenorrhea, Decreased serum insulin-like growth factor 1,... ORPHA:352
Autoimmune Hemolytic Anemia, Cold Type
Hemolytic anemia, Abnormal leukocyte morphology, Splenomegaly ORPHA:228312
Gray Platelet Syndrome
Thrombocytopenia, Abnormality of the menstrual cycle, Splenomegaly ORPHA:721
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Acholic stools, Hepatitis, Splenomegaly, Cirrhosis, Hepatic failure, Elevated hepat... OMIM:613812
3-Methylglutaconic Aciduria Type 1
Hepatomegaly, 3-Methylglutaconic aciduria ORPHA:67046
Glycogen Storage Disease Ixc
Hepatomegaly, Increased hepatic glycogen content, Bile duct proliferation, Splenomegaly, Cirrhosi... OMIM:613027
Hodgkin Lymphoma
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:98293
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia ORPHA:2528
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Lysosomal Acid Lipase Deficiency
Adrenal insufficiency, Bone-marrow foam cells, Splenomegaly, Hypersplenism, Hepatosplenomegaly, P... OMIM:278000
Immunodeficiency, Common Variable, 6
Macroscopic hematuria, Hepatomegaly, Hydronephrosis, Stage 5 chronic kidney disease, Autoimmune t... OMIM:613496
Immunodeficiency 84
B lymphocytopenia, Splenomegaly OMIM:619437
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Ascites, Hepatocellular carcinoma, Nodular regenerative hyperplasia of liver, Splen... OMIM:619463
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hepatomegaly, Hemoglobinuria, Increased red cell hemolysis by shear stress, Hepatitis, Cholelithi... OMIM:194380
Microphthalmia, Syndromic 12
Anophthalmia, Microphthalmia OMIM:615524
Immunodeficiency 69
Thrombocytosis, Leukocytosis, Anemia, Splenomegaly, Hepatosplenomegaly, Pancytopenia OMIM:618963
Faciothoracogenital Syndrome
Microphthalmia OMIM:227320
Desmoplastic Small Round Cell Tumor
Ovarian neoplasm, Hepatomegaly, Mediastinal lymphadenopathy, Ascites, Lymphadenopathy, Neoplasm o... ORPHA:83469
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Hepatic fibrosis, Asplenia, Pancreatic cysts, Bile duct proliferation, Hepatic cyst... OMIM:208540
Erythrocytosis, Familial, 8
Normocytic anemia, Polycythemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocyti... OMIM:222800
Cystic Echinococcosis
Hepatomegaly, Splenic cyst, Peritoneal abscess, Biliary tract obstruction, Hepatic cysts, Membran... ORPHA:400
Kennedy Disease
Testicular atrophy, Type II diabetes mellitus, Erectile dysfunction, Decreased fertility ORPHA:481
Liver Failure, Infantile, Transient
Microvesicular hepatic steatosis, Hepatomegaly, Macrovesicular hepatic steatosis, Acute hepatic f... OMIM:613070
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute lymphoblastic leukemia, Neutropenia, Pancytopenia, Hepatocellular carcinoma, Abnormal renal... ORPHA:158057
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Azoospermia OMIM:613909
African Iron Overload
Hepatomegaly, Hepatic fibrosis, Elevated hepatic iron concentration, Hepatocellular carcinoma, Pe... ORPHA:139507
Spinocerebellar Ataxia Type 32
Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
Meckel Syndrome, Type 3
Hepatomegaly, Malformation of the hepatic ductal plate, Hepatic fibrosis, Bile duct proliferation... OMIM:607361
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Testicular atrophy, Azoospermia, Hypogonadotropic hypogonadism, Decreased circulating follicle st... OMIM:308700
Aicardi-Goutieres Syndrome 4
Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Elevated hepatic transaminase, Thro... OMIM:610333
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microphthalmia OMIM:616171
Ehlers-Danlos Syndrome, Beasley-Cohen Type
Bilateral microphthalmos OMIM:608763
Caroli Disease
Cholangitis, Hepatomegaly, Leukocytosis, Cholangiocarcinoma, Hepatic fibrosis, Ascites, Cholelith... ORPHA:53035
Dysplastic Cortical Hyperostosis
Hepatomegaly, Splenomegaly ORPHA:2204
Perlman Syndrome
Hepatomegaly, Abnormal pancreas morphology, Cryptorchidism, Hypoplasia of penis, Hyperinsulinemia ORPHA:2849
Microphthalmia, Syndromic 11
Microphthalmia OMIM:614402
Gaucher Disease Type 2
Hepatomegaly, Splenomegaly ORPHA:77260
Kallmann Syndrome With Spastic Paraplegia
Testicular atrophy, Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hor... OMIM:308750
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly OMIM:615085
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocytic hemolytic an... OMIM:235700
Cold Agglutinin Disease
Hepatomegaly, Lymphadenopathy, Splenomegaly, Abnormal urinary color, Hemolytic anemia ORPHA:56425
Mulibrey Nanism
Hepatomegaly ORPHA:2576
Galactose Mutarotase Deficiency
Decreased liver function, Hepatomegaly, Cholestasis ORPHA:570422
Babesiosis
Hepatomegaly, Leukopenia, Splenomegaly, Hepatic failure, Thrombocytopenia, Hemolytic anemia, Rena... ORPHA:108
Immunodeficiency 54
Hepatomegaly, Adrenal insufficiency, Lymphadenopathy, Splenomegaly, Reduced natural killer cell c... OMIM:609981
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hepatomegaly, Cholestasis, Hepatic failure, Elevated hepatic transaminase, Jaundice OMIM:618528
Dubin-Johnson Syndrome
Hepatomegaly, Abnormality of the liver, Abnormal urinary color, Biliary tract abnormality, Jaundice ORPHA:234
Combined Oxidative Phosphorylation Deficiency 47
Elevated hepatic transaminase, Hepatomegaly, Cryptorchidism OMIM:618958
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Peroxisome Biogenesis Disorder 3A (Zellweger)
Hepatomegaly, Polycystic kidney dysplasia OMIM:614859
Pfapa Syndrome
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:42642
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Microphthalmia, Isolated 8
Optic nerve hypoplasia, Microphthalmia OMIM:615113
Acquired Idiopathic Sideroblastic Anemia
Hepatomegaly, Leukocytosis, Thrombocytosis, Neutropenia, Normocytic anemia, Megaloblastic erythro... ORPHA:75564
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Pigment gallstones, Cholelithiasis, Splenomegaly, Impaired neutrophil bactericidal activity, Nons... OMIM:613470
Sickle Cell Anemia
Hepatomegaly, Leukocytosis, Priapism, Hematuria, Cardiomegaly, Cholelithiasis, Splenomegaly, Incr... OMIM:603903
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatomegaly, Myoglobinuria, Dysmenorrhea, Portal fibrosis, Hepatic fibrosis, Hepatocellular carc... ORPHA:370
Heme Oxygenase 1 Deficiency
Hemolytic anemia, Hepatomegaly, Thrombocytosis, Asplenia, Lymphadenopathy, Coombs-positive hemoly... OMIM:614034
Aicardi-Goutieres Syndrome 7
Hepatomegaly, Thrombocytopenia, Nephrotic syndrome, Splenomegaly OMIM:615846
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jau... OMIM:211600
Dehydrated Hereditary Stomatocytosis 2
Hepatomegaly, Anisopoikilocytosis, Increased mean corpuscular volume, Acanthocytosis, Splenomegal... OMIM:616689
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Ascites, Anemia, Decreased liver function, Cholestasis, Hypothyroidism, Thrombocyto... OMIM:608104
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Generalized aminoaciduria, Hepatocellular necrosis, Ascites, Depletion of mitochond... OMIM:251880
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia OMIM:274270
Hemochromatosis, Type 4
Hepatomegaly, Anemia, Cirrhosis, Hepatic steatosis, Diabetes mellitus, Impotence OMIM:606069
Immunodeficiency 52
Lymphadenopathy, Increased proportion of gamma-delta T cells, Coombs-positive hemolytic anemia, S... OMIM:617514
Immunodeficiency 76
B lymphocytopenia, Lymphadenopathy, Splenomegaly, Lymphopenia, T lymphocytopenia OMIM:619164
Wolman Disease
Hepatomegaly, Adrenal insufficiency, Ascites, Anemia, Bone-marrow foam cells, Splenomegaly, Hepat... ORPHA:75233
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Left ventricular hypertrophy, Hepatic steatosis, Elevated circulating alanine amino... OMIM:619048
Fanconi Anemia, Complementation Group J
Microphthalmia OMIM:609054
Biemond Syndrome Type 2
Microphthalmia ORPHA:141333
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Leukocytosis, Anemia, Abnormality of the lymph nodes, Splenomegaly, Hepatosplenomeg... OMIM:612840
Galactokinase Deficiency
Hepatomegaly, Increased level of galactitol in urine, Hepatosplenomegaly, Premature ovarian insuf... ORPHA:79237
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Bile Acid Conjugation Defect 1
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:619232
Renal-Hepatic-Pancreatic Dysplasia 2
Cystic renal dysplasia, Hepatomegaly, Hepatic fibrosis, Asplenia, Cholestasis, Enlarged kidney OMIM:615415
Classic Galactosemia
Hepatomegaly, Secondary amenorrhea, Oligomenorrhea, Decreased serum insulin-like growth factor 1,... ORPHA:79239
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Cirrhosis, Intrahepatic cholestasis, Interm... OMIM:601847
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Hepatomegaly, Splenomegaly, Cholestasis, Portal hypertension, Jaundice ORPHA:59303
Congenital Toxoplasmosis
Hepatomegaly, Ascites, Lymphadenopathy, Cardiomegaly, Anemia, Elevated hepatic transaminase, Thro... ORPHA:858
Follicular Lymphoma
Lymphadenopathy, Mediastinal lymphadenopathy, Abnormality of the peritoneum, Splenomegaly ORPHA:545
Hemoglobin E Disease
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Spontaneous abortion,... ORPHA:2133
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Hepatitis, Splenomegaly, Pancytopenia, Aplastic anemia, Hemophagocytosis OMIM:300635
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Hepatic steatosis OMIM:615238
Hereditary Amyloidosis With Primary Renal Involvement
Oligospermia, Hepatomegaly, Tubulointerstitial nephritis, Nephrotic syndrome, Lymphadenopathy, De... ORPHA:85450
Hepatoportal Sclerosis
Hepatocellular carcinoma, Ascites, Leukopenia, Anemia, Nodular regenerative hyperplasia of liver,... ORPHA:64743
Indolent Systemic Mastocytosis
Hepatomegaly, Lymphadenopathy, Abnormal mast cell morphology, Splenomegaly, Increased proportion ... ORPHA:98848
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Spherocytosis, Type 1
Hemolytic anemia, Cholelithiasis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice OMIM:182900
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Microphthalmia OMIM:212550
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia OMIM:610023
Schnitzler Syndrome
Hepatomegaly, Leukocytosis, Lymphadenopathy, Anemia, Splenomegaly ORPHA:37748
Fanconi Anemia, Complementation Group G
Microphthalmia OMIM:614082
Immunodeficiency 14A, Autosomal Dominant
Increased proportion of transitional B cells, Decreased proportion of class-switched memory B cel... OMIM:615513
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Lymphadenopathy, Anemia, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia, Hemophagocytosis OMIM:613101
Bile Acid Synthesis Defect, Congenital, 1
Hepatomegaly, Giant cell hepatitis, Acholic stools, Splenomegaly, Cirrhosis, Hepatic failure, Ele... OMIM:607765
Anemia, Congenital Dyserythropoietic, Type Ia
Erythroid hyperplasia, Splenomegaly, Anisocytosis, Poikilocytosis, Reticulocytosis, Prolonged neo... OMIM:224120
Glycogen Storage Disease Xii
Normocytic anemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocytic hemolytic an... OMIM:611881
Omenn Syndrome
Hepatomegaly, B lymphocytopenia, Lymphadenopathy, Hypoplasia of the thymus, Anemia, Splenomegaly,... OMIM:603554
Ornithine Transcarbamylase Deficiency
Aminoaciduria, Hepatic failure, Splenomegaly ORPHA:664
Spondylometaphyseal Dysplasia, Axial
Reduced sperm motility, Splenomegaly OMIM:602271
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Hepatic fibrosis, Bile duct proliferation, Cirrhosis, Elevated circulating aspartat... OMIM:619662
Infantile Sialic Acid Storage Disease
Hepatomegaly, Nephrotic syndrome, Ascites, Vacuolated lymphocytes, Cardiomegaly, Splenomegaly OMIM:269920
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, F... OMIM:601859
Wilson Disease
Hepatomegaly, Abnormality of the menstrual cycle, Hepatitis, Anemia, Acute hepatitis, Splenomegal... ORPHA:905
Meckel Syndrome, Type 8
Anophthalmia, Microphthalmia OMIM:613885
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Nephrotic syndrome, Cardiomegaly, Left ventricular hypertrophy, Hypothyroidism, Ele... OMIM:617713
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Neutropenia, Lymphadenopathy, Fulminant hepatitis, Splenomegaly, Lymphocytosis, Hep... OMIM:308240
Fish-Eye Disease
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:79292
Osteopetrosis, Autosomal Recessive 4
Hepatomegaly, Anemia, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Thrombocytopenia OMIM:611490
Cholestasis, Benign Recurrent Intrahepatic, 2
Intrahepatic cholestasis, Hepatomegaly, Cholelithiasis, Jaundice OMIM:605479
Bile Acid Synthesis Defect, Congenital, 2
Hepatomegaly, Splenomegaly, Hepatic failure, Elevated hepatic transaminase, Intrahepatic cholesta... OMIM:235555
Lymphoproliferative Syndrome 2
Hepatomegaly, Ascites, Lymphadenopathy, Splenomegaly, Hepatosplenomegaly, Pancytopenia, Aplastic ... OMIM:615122
Peroxisome Biogenesis Disorder 5A (Zellweger)
Hepatomegaly, Intrahepatic biliary dysgenesis, Renal cyst, Splenomegaly, Clitoral hypertrophy, He... OMIM:614866
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Stomatocytosis, Splenomegaly, Reticulocytosis, Hemolytic anemia, Jaundice OMIM:185000
Transaldolase Deficiency
Hepatomegaly, Hepatic fibrosis, Micronodular cirrhosis, Anemia, Splenomegaly, Cirrhosis, Decrease... OMIM:606003
Microphthalmia, Syndromic 13
Microphthalmia OMIM:300915
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Increased pro... OMIM:618534
X-Linked Sideroblastic Anemia
Elevated hepatic transaminase, Anemia, Splenomegaly ORPHA:75563
Myotonic Dystrophy 1
Testicular atrophy, Cholelithiasis, Hypogonadism OMIM:160900
Classic Mycosis Fungoides
Lymphadenopathy, Hepatomegaly, Abnormal lymphocyte morphology, Splenomegaly ORPHA:2584
Joubert Syndrome 37
Hepatomegaly, Hydronephrosis, Micropenis, Cryptorchidism, Decreased testicular size OMIM:619185
2Q24 Microdeletion Syndrome
Microphthalmia ORPHA:1617
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Congenital hemolytic anemia, Reduced red cell pyruvate kinase level, Anemia, Splenomegaly, Anisoc... ORPHA:766
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hepatomegaly, Hypogonadism, Hepatic steatosis, Diabetes mellitus, Elevated hepatic transaminase, ... OMIM:615381
Microcephaly 20, Primary, Autosomal Recessive
Optic nerve hypoplasia, Microphthalmia OMIM:617914
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Oligomenorrhea, Insulin-resistant diabetes mellitus, Polycystic ovaries, Hepatic st... ORPHA:79085
Congenital Disorder Of Glycosylation, Type Iij
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatic failure, Elevated hepatic transaminase OMIM:613489
Craniotelencephalic Dysplasia
Optic nerve hypoplasia, Microphthalmia OMIM:218670
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Splenomegaly, Chronic hemolytic anemia, Cholecystitis, Reticulocytosis, Jaundice OMIM:266200
Immunodeficiency, Common Variable, 1
Hepatomegaly, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Neutropen... OMIM:607594
Wolfram Syndrome 1
Testicular atrophy, Hydronephrosis, Diabetes insipidus, Megaloblastic anemia, Sideroblastic anemi... OMIM:222300
Cerebrooculofacioskeletal Syndrome 2
Microphthalmia OMIM:610756
Sea-Blue Histiocytosis
Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis ORPHA:158029
Sialidosis Type 2
Hepatomegaly, Nephropathy, Ascites, Splenomegaly ORPHA:87876
Budd-Chiari Syndrome
Hepatomegaly, Ascites, Peritonitis, Splenomegaly, Cirrhosis, Acute hepatic failure, Cholecystitis... ORPHA:131
Isolated Biliary Atresia
Hepatomegaly, Acholic stools, Elevated hepatic transaminase, Atretic gallbladder, Bile duct proli... ORPHA:30391
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Lig4 Syndrome
Hepatomegaly, Leukocytosis, Type II diabetes mellitus, Acute leukemia, Lymphadenopathy, Hypothyro... ORPHA:99812
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Lymphangiectasis, Hepatic fibrosis, Hyperinsulinemic hypoglycemia, Cirrhosis, Hepat... OMIM:602579
Gaucher Disease, Type Iii
Pancytopenia, Hepatomegaly, Thrombocytopenia, Splenomegaly OMIM:231000
Infantile Liver Failure Syndrome 3
Hepatomegaly, Splenomegaly, Hepatic steatosis, Acute hepatic failure, Cholestasis, Elevated hepat... OMIM:618641
Isolated Optic Nerve Hypoplasia/Aplasia
Optic disc hypoplasia, Optic nerve hypoplasia, Unilateral microphthalmos, Aplasia/Hypoplasia of t... ORPHA:137902
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Myoglobinuria, Dysmenorrhea, Portal fibrosis, Hepatic fibrosis, Oligomenorrhea, Ren... ORPHA:264580
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin ORPHA:231401
Immunodeficiency, Common Variable, 2
Lymphadenopathy, Hepatomegaly, Follicular hyperplasia, Splenomegaly OMIM:240500
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia OMIM:269400
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Neutropenia, Anemia, Pancreatitis, Splenomegaly, Thrombocytopenia, Renal insufficiency ORPHA:79312
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Hydronephrosis, Neutropenia, Leukopenia, Monocytosis, Hypoplasia of the thymus, Ane... OMIM:612541
Xk Aprosencephaly Syndrome
Microphthalmia ORPHA:3469
Aa Amyloidosis
Hepatomegaly, Adrenal insufficiency, Nephrotic syndrome, Acute kidney injury, Cholestasis, Hypoth... ORPHA:85445
Vitamin B12-Responsive Methylmalonic Acidemia
Anemia, Hepatomegaly, Renal insufficiency ORPHA:28
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Hepatic fibrosis, Nephronophthisis, Splenomegaly, Cholestasis, Hepatic failure, Chr... OMIM:615630
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Microphthalmia ORPHA:324416
Propionic Acidemia
Hepatomegaly, Organic aciduria ORPHA:35
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Autoimmune thrombocytopenia, Decrease... OMIM:300853
Polycystic Liver Disease 2 With Or Without Kidney Cysts
Hepatomegaly, Hepatic cysts OMIM:617004
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Hurler-Scheie Syndrome
Hepatomegaly, Abnormality of the tonsils, Splenomegaly ORPHA:93476
Immunodeficiency 27A
Leukocytosis, Enlarged mesenteric lymph node, Thrombocytosis, Lymphadenopathy, Anemia, Splenomega... OMIM:209950
Leishmaniasis
Hepatomegaly, Pancytopenia, Leukopenia, Lymphadenopathy, Anemia, Splenomegaly, Abnormal macrophag... ORPHA:507
Cidec-Related Familial Partial Lipodystrophy
Hepatomegaly, Oligomenorrhea, Insulin-resistant diabetes mellitus, Polycystic ovaries, Pancreatit... ORPHA:435651
Craniotelencephalic Dysplasia
Microphthalmia, Septo-optic dysplasia ORPHA:1528
Coach Syndrome 1
Hepatomegaly, Hepatic fibrosis, Nephronophthisis, Multiple small medullary renal cysts, Renal cys... OMIM:216360
Cofs Syndrome
Microphthalmia ORPHA:1466
Parenteral Nutrition-Associated Cholestasis
Hepatomegaly, Hepatic fibrosis, Cholelithiasis, Splenomegaly, Biliary hyperplasia, Cirrhosis, Hep... ORPHA:567983
Pparg-Related Familial Partial Lipodystrophy
Hepatomegaly, Secondary amenorrhea, Maternal diabetes, Dysmenorrhea, Oligomenorrhea, Insulin-resi... ORPHA:79083
Griscelli Syndrome Type 2
Hepatomegaly, Neutropenia, Lymphadenopathy, Splenomegaly, Pancytopenia, Hemophagocytosis, Jaundice ORPHA:79477
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal macrophage morphology, ... ORPHA:2585
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Nephrotic syndrome, Monocytosis, Lymphadenopathy, Hemolytic-uremic syndrome, Neutro... OMIM:619644
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased B cell count, Hepatomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-be... OMIM:603909
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Pulmonary lymphangiectasia, Hepatomegaly, Hydronephrosis, Ascites, Splenomegaly, Abnormality of t... ORPHA:1655
Neuraminidase Deficiency
Hepatomegaly, Ascites, Vacuolated lymphocytes, Cardiomegaly, Urinary excretion of sialylated olig... OMIM:256550
Caroli Syndrome
Abnormality of the intrahepatic bile duct, Cholangitis, Hepatomegaly, Leukocytosis, Cholangiocarc... ORPHA:480520
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Pancreatic hypoplasia, Hepatic fibrosis, Pancreatic cysts, Splenic cyst, Congenital... OMIM:610199
Bile Acid Synthesis Defect, Congenital, 4
Hepatomegaly, Giant cell hepatitis, Elevated hepatic transaminase, Hepatic failure, Prolonged neo... OMIM:214950
Macrocephaly/Autism Syndrome
Hepatomegaly, Lymphopenia, Splenomegaly OMIM:605309
Thrombocythemia 1
Thrombocytosis, Splenomegaly OMIM:187950
Manitoba Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia OMIM:248450
Immunodeficiency 32B
Splenomegaly OMIM:226990
Cryoglobulinemic Vasculitis
Hepatomegaly, Mediastinal lymphadenopathy, Hematuria, Splenomegaly, Abnormality of the liver, Vir... ORPHA:91138
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Hypospadias, Hepatomegaly, Cryptorchidism, 3-Methylglutaconic aciduria ORPHA:1194
Warburg Micro Syndrome 4
Microphthalmia OMIM:615663
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Myoglobinuria, Dysmenorrhea, Hepatic fibrosis, Hepatocellular carcinoma, Oligomenor... ORPHA:79240
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Hepatomegaly, Anemia, Splenomegaly, Anemia of inadequate production, Exocrine pancreatic insuffic... OMIM:612714
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Hepatomegaly, Hepatic fibrosis, Nephronophthisis, Renal cyst, Stage 5 chronic kidney disease, Ane... OMIM:266920
Primary Myelofibrosis
Hepatomegaly, Leukocytosis, Thrombocytosis, Lymphadenopathy, Anemia, Splenomegaly, Hepatosplenome... ORPHA:824
Oculocerebrocutaneous Syndrome
Anophthalmia, Microphthalmia OMIM:164180
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:163596
Infantile Liver Failure Syndrome 1
Hepatomegaly, Macrocytic anemia, Anemia, Hepatic steatosis, Acute hepatic failure, Elevated hepat... OMIM:615438
Cholestasis, Benign Recurrent Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Intermittent jaundice, Pancreatitis OMIM:243300
Klatskin Tumor
Hepatomegaly, Cholangiocarcinoma, Lymphadenopathy, Extrahepatic cholestasis, Jaundice ORPHA:99978
Gaucher Disease, Type Ii
Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly OMIM:230900
Omenn Syndrome
Hepatomegaly, Leukocytosis, Nephrotic syndrome, Lymphadenopathy, Abnormal lymphocyte morphology, ... ORPHA:39041
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Pulmonary lymphangiectasia, Hepatomegaly, Hydronephrosis, Ascites, Splenomegaly, Thyroid lymphang... OMIM:235255
Spherocytosis, Type 5
Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice OMIM:612690
Cat-Eye Syndrome
Microphthalmia ORPHA:195
Triploidy
Hypospadias, Hepatomegaly, Abnormality of the gallbladder, Abnormality of the pancreas, Ambiguous... ORPHA:3376
Classic Hodgkin Lymphoma
Lymphadenopathy, Hepatomegaly, Bone marrow hypocellularity, Splenomegaly ORPHA:391
Congenital Generalized Lipodystrophy
Hepatomegaly, Precocious puberty in females, Oligomenorrhea, Amenorrhea, Polycystic ovaries, Cirr... ORPHA:528
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hepatomegaly, Renal tubular dysfunction, Neutropenia, Anemia, Pancreatitis, Thrombocytopenia, Ren... ORPHA:289916
Severe Combined Immunodeficiency, X-Linked
Hepatomegaly, Hypoplasia of the thymus, Impaired lymphocyte transformation with phytohemagglutini... OMIM:300400
Congenital Bile Acid Synthesis Defect Type 2
Abnormality of the intrahepatic bile duct, Hepatomegaly, Giant cell hepatitis, Elevated hepatic t... ORPHA:79303
Autoimmune Hepatitis
Hepatocellular carcinoma, Ascites, Fulminant hepatitis, Acute hepatitis, Splenomegaly, Diffuse he... ORPHA:2137
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Leukocytosis, Acute leukemia, Lymphadenopathy, Bone marrow hypocellularity, Splenom... ORPHA:3226
Microphthalmia, Isolated 5
Microphthalmia OMIM:611040
Pierpont Syndrome
Microphthalmia ORPHA:487825
Familial Partial Lipodystrophy, Dunnigan Type
Hepatomegaly, Secondary amenorrhea, Dysmenorrhea, Polycystic ovaries, Pancreatitis, Splenomegaly,... ORPHA:2348
Congenital Rubella Syndrome
Hepatomegaly, Anemia, Splenomegaly, Type I diabetes mellitus, Thrombocytopenia, Jaundice ORPHA:290
Griscelli Syndrome
Hepatomegaly, Ascites, Leukopenia, Lymphadenopathy, Hepatitis, Bone marrow hypocellularity, Splen... ORPHA:381
Fanconi-Bickel Syndrome
Hepatomegaly, Hyperphosphaturia, Generalized aminoaciduria, Hepatocellular carcinoma, Increased h... ORPHA:2088
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Hepatomegaly, Elevated hepatic transaminase, Macrovesicular hep... OMIM:256810
Macrophage Activation Syndrome
Hepatomegaly, Neutropenia, Lymphadenopathy, Hepatitis, Anemia, Splenomegaly, Decreased liver func... ORPHA:158061
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Jaundice, Hepatomegaly, Hemolytic anemia, Splenomegaly OMIM:608885
Beta-Thalassemia Major
Adrenal insufficiency, Anisopoikilocytosis, Splenomegaly, Hypersplenism, Hepatosplenomegaly, Diab... ORPHA:231214
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Microphthalmia ORPHA:1473
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Pancreatitis, Hepatic steatosis, Elevated circulating alanine aminotransferase conc... OMIM:618805
Anterior Segment Dysgenesis 5
Rieger anomaly, Microphthalmia, Hypoplasia of the fovea, Hypoplasia of the iris OMIM:604229
Gaucher Disease Type 1
Hepatomegaly, Ascites, Leukopenia, Biliary tract obstruction, Hematuria, Anemia, Splenomegaly, Ci... ORPHA:77259
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Hepatomegaly, Renal hypoplasia, Chronic tubulointerstitial nephritis, Stage 5 chronic kidney dise... OMIM:614376
Oculoskeletodental Syndrome
Hepatomegaly, Mucopolysacchariduria, Splenomegaly, Hypothyroidism, Cryptorchidism, Hypercalciuria OMIM:618440
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microphthalmia OMIM:251270
Peroxisome Biogenesis Disorder 2A (Zellweger)
Hepatomegaly, Aminoaciduria, Hypoplasia of the thymus, Intrahepatic biliary dysgenesis, Clitoral ... OMIM:214110
Dominant Beta-Thalassemia
Adrenal insufficiency, Splenomegaly, Hypersplenism, Hepatosplenomegaly, Diabetes mellitus, Decrea... ORPHA:231226
Cerebrooculofacioskeletal Syndrome 1
Microphthalmia OMIM:214150
Primary Lipodystrophy
Type II diabetes mellitus, Polycystic ovaries, Pancreatitis, Menometrorrhagia, Splenomegaly, Cirr... ORPHA:90970
Tyrosinemia, Type I
Hepatomegaly, Renal Fanconi syndrome, Hepatocellular carcinoma, Ascites, Nephrocalcinosis, Glomer... OMIM:276700
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Abnormal mean corpuscular volume, Splenomegaly, Anisocytosis, Reticulocytosis, He... ORPHA:3203
Pierpont Syndrome
Microphthalmia OMIM:602342
Lipe-Related Familial Partial Lipodystrophy
Hepatomegaly, Oligomenorrhea, Insulin-resistant diabetes mellitus, Polycystic ovaries, Hepatic st... ORPHA:435660
Microphthalmia, Syndromic 8
Microphthalmia OMIM:601349
Aredyld Syndrome
Hepatomegaly, Abnormality of the ureter, Type II diabetes mellitus, Splenomegaly, Type I diabetes... ORPHA:1133
Pseudo-Torch Syndrome 1
Hepatomegaly, Splenomegaly, Decreased liver function, Elevated hepatic transaminase, Thrombocytop... OMIM:251290
Wilson Disease
Hemolytic anemia, Hepatomegaly, Hypoparathyroidism, Renal tubular dysfunction, Hyperphosphaturia,... OMIM:277900
Warburg Micro Syndrome 1
Microphthalmia OMIM:600118
Short Fifth Metacarpals-Insulin Resistance Syndrome
Spherocytosis, Hyperinsulinemia, Splenomegaly ORPHA:66518
Felty Syndrome
Neutropenia, Splenomegaly OMIM:134750
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia ORPHA:1135
Spherocytosis, Type 4
Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice OMIM:612653
Neonatal Lupus Erythematosus
Hepatomegaly, Neutropenia, Pancytopenia, Anemia, Splenomegaly, Abnormality of the liver, Aplastic... ORPHA:398124
Lymphoproliferative Syndrome 1
Hepatomegaly, Leukopenia, Lymphadenopathy, Anemia, Splenomegaly, Autoimmune thrombocytopenia, Dec... OMIM:613011
Fetal Gaucher Disease
Abnormality of the spleen, Hepatomegaly, Splenomegaly, Pancytopenia, Thrombocytopenia ORPHA:85212
Systemic-Onset Juvenile Idiopathic Arthritis
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:85414
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hyperphosphaturia, Hepatomegaly, Nephrocalcinosis, Glycosuria, Diabetes mellitus, Aminoaciduria, ... OMIM:616026
Farber Lipogranulomatosis
Hepatomegaly, Lipogranulomatosis, Splenomegaly OMIM:228000
Pediatric Hepatocellular Carcinoma
Hepatomegaly, Hepatic necrosis, Hepatic fibrosis ORPHA:33402
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Tubulointerstitial nephritis, Hepatic steatosis, Elevated circulating alanine amino... OMIM:614582
Immunodeficiency With Hyper-Igm, Type 1
Hepatomegaly, Neutropenia, Thrombocytopenia, Hepatitis, Absence of lymph node germinal center, Sp... OMIM:308230
Cardiomyopathy, Familial Restrictive, 6
Hepatomegaly, Ascites OMIM:619433
Congenital Pulmonary Lymphangiectasia
Hepatomegaly, Ascites, Splenomegaly ORPHA:2414
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Pancytopenia, Splenomegaly OMIM:614979
Mucopolysaccharidosis, Type Iiia
Hepatomegaly, Heparan sulfate excretion in urine, Splenomegaly OMIM:252900
Combined Oxidative Phosphorylation Deficiency 11
Hepatomegaly, Renal hypoplasia, Renal tubular acidosis, Renal cyst, Decreased liver function, Hep... OMIM:614922
Anterior Segment Dysgenesis 2
Anterior segment of eye aplasia, Congenital aphakia, Microphthalmia, Aniridia OMIM:610256
Spherocytosis, Type 2
Hemolytic anemia, Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice OMIM:616649
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hepatomegaly, Macrocytic anemia, Leukopenia, Anemia, Pancreatitis, Thrombocytopenia, Renal insuff... ORPHA:27
Mpi-Cdg
Hepatomegaly, Hepatic fibrosis, Hyperinsulinemic hypoglycemia, Decreased liver function, Hypothyr... ORPHA:79319
Kaposiform Lymphangiomatosis
Pancreatic cysts, Abnormal lymphatic vessel morphology, Lymphangioma, Abnormality of the lymphati... ORPHA:464329
Niemann-Pick Disease, Type A
Hepatomegaly, Ascites, Lymphadenopathy, Bone-marrow foam cells, Splenomegaly, Elevated circulatin... OMIM:257200
Free Sialic Acid Storage Disease
Hepatomegaly, Nephrotic syndrome, Ascites, Splenomegaly, Proteinuria ORPHA:834
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hepatomegaly, Pancytopenia, Ascites, Inappropriate antidiuretic hormone secretion, Urinary retent... ORPHA:79124
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia OMIM:601794
Hereditary Elliptocytosis
Congenital hemolytic anemia, Stomatocytosis, Cholelithiasis, Splenomegaly, Elliptocytosis, Poikil... ORPHA:288
Polycythemia Vera
Thrombocytosis, Leukocytosis, Increased red blood cell mass, Splenomegaly, Increased hematocrit, ... OMIM:263300
Hereditary Spherocytosis
Hepatomegaly, Anemia, Cholelithiasis, Splenomegaly, Extramedullary hematopoiesis, Increased mean ... ORPHA:822
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Ascites, Anemia, Decreased osteoclast count, Splenomegaly, Absence of renal cortico... OMIM:259720
Adult-Onset Still Disease
Hepatomegaly, Leukocytosis, Hepatitis, Bone marrow hypocellularity, Splenomegaly, Neutrophilia, G... ORPHA:829
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hepatomegaly, Micropenis, Hydrocele testis OMIM:618810
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Lymphadenopathy, Splenomegaly, Intermitte... OMIM:150550
Oculogastrointestinal Neurodevelopmental Syndrome
Bilateral microphthalmos, Unilateral microphthalmos OMIM:619318
8P11.2 Deletion Syndrome
Hemolytic anemia, Azoospermia, Hypogonadotropic hypogonadism, Abnormality of the hypothalamus-pit... ORPHA:251066
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Microphthalmia ORPHA:48431
Norrie Disease
Microphthalmia, Hypoplasia of the iris OMIM:310600
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly OMIM:252920
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Renal tubular acidosis, Cardiomegaly, Hepatic steatosis, Elevated hepatic transaminase OMIM:255120
Elliptocytosis 1
Jaundice, Hemolytic anemia, Elliptocytosis, Splenomegaly OMIM:611804
Acrocephalopolydactylous Dysplasia
Cystic renal dysplasia, Hepatomegaly, Hepatic fibrosis, Ascites, Pancreatic fibrosis, Polysplenia... OMIM:200995
Aicardi-Goutieres Syndrome 9
Hemolytic anemia, Hepatomegaly, Hepatic fibrosis, Ascites, Glomerular sclerosis, Stage 5 chronic ... OMIM:619487
Chronic Myeloid Leukemia
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Sple... ORPHA:521
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Thrombocytopenia, Hemolytic anemia, Splenomegaly OMIM:314050
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Microphthalmia OMIM:602501
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Aniridia, Hypoplastic iris stroma, Macular hypoplasia, Bilateral microph... ORPHA:2334
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia ORPHA:363741
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Nephrotic syndrome, Lymphadenopathy, Lymphadenitis, Splenomegaly, Hepatosplenomegaly, Impaired ox... OMIM:618935
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Optic nerve hypoplasia, Microphthalmia OMIM:615181
Dehydrated Hereditary Stomatocytosis
Congenital hemolytic anemia, Macrocytic anemia, Schistocytosis, Increased mean corpuscular volume... ORPHA:3202
Thrombocytopenia, Anemia, And Myelofibrosis
Thrombocytopenia, Anisopoikilocytosis, Anemia, Splenomegaly OMIM:617441
Hartsfield Syndrome
Microphthalmia ORPHA:2117
Temtamy Syndrome
Microphthalmia ORPHA:1777
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Hemoglobinuria, Heinz bodies, Splenomegaly, Fava bean-induced hemolytic anemia, Ani... OMIM:300908
Muckle-Wells Syndrome
Hepatomegaly, Nephrotic syndrome, Anemia, Splenomegaly, Nephropathy, Delayed puberty ORPHA:575
Congenital Disorder Of Glycosylation, Type Iil
Hepatomegaly, Pancytopenia, Proximal tubulopathy, Splenomegaly, Cirrhosis, Cholestasis, Unilatera... OMIM:614576
Frontonasal Dysplasia 3
Microphthalmia OMIM:613456
Warburg Micro Syndrome 3
Microphthalmia OMIM:614222
Gamma-Heavy Chain Disease
Hepatomegaly, Lymphadenopathy, Abnormal lymphocyte morphology, Anemia, Splenomegaly, Autoimmune t... ORPHA:100026
Joubert Syndrome 22
Microphthalmia OMIM:615665
Hyperparathyroidism, Neonatal Severe
Elevated circulating parathyroid hormone level, Hepatomegaly, Hyperphosphaturia, Aminoaciduria, A... OMIM:239200
Autoimmune Hemolytic Anemia
Hemolytic anemia, Abnormal urinary color, Abnormal leukocyte morphology, Splenomegaly ORPHA:98375
Cog5-Cdg
Hepatomegaly, Hepatosplenomegaly, Micropenis, Urinary incontinence, Elevated hepatic transaminase... ORPHA:263487
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Hepatomegaly, Lymphadenopathy, Splenomegaly, Autoimmune thrombocytopenia, Lymphopenia, Autoimmune... OMIM:616100
Familial Cold Autoinflammatory Syndrome 2
Lymphadenopathy, Leukocytosis, Splenomegaly OMIM:611762
Proteasome-Associated Autoinflammatory Syndrome 4
Lymphadenopathy, Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly OMIM:619183
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia ORPHA:2547
Drug-Induced Autoimmune Hemolytic Anemia
Abnormal urinary color, Autoimmune hemolytic anemia, Splenomegaly ORPHA:90037
Chromosome 1Q41-Q42 Deletion Syndrome
Microphthalmia OMIM:612530
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Microphthalmia ORPHA:93267
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Macrovesicular hepatic steatosis, Hepatomegaly, Cardiomegaly, Elevated hepatic transaminase OMIM:600649
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hepatomegaly, Medium chain dicarboxylic aciduria, Hepatic steatosis, Hyperglycinuria, Elevated he... OMIM:201450
Cryohydrocytosis
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Splenomegaly OMIM:185020
Lipodystrophy, Congenital Generalized, Type 1
Hepatomegaly, Insulin-resistant diabetes mellitus at puberty, Polycystic ovaries, Labial hypertro... OMIM:608594
Autosomal Recessive Polycystic Kidney Disease
Abnormality of the intrahepatic bile duct, Cholangitis, Cholangiocarcinoma, Splenomegaly, Biliary... ORPHA:731
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Hepatomegaly, Renal hypoplasia, Ketonuria OMIM:619053
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microphthalmia ORPHA:231736
Familial Hemophagocytic Lymphohistiocytosis
Hepatomegaly, Neutropenia, Lymphadenopathy, Abnormal renal physiology, Anemia, Splenomegaly, Decr... ORPHA:540
Lipodystrophy, Congenital Generalized, Type 2
Hepatomegaly, Insulin-resistant diabetes mellitus at puberty, Polycystic ovaries, Labial hypertro... OMIM:269700
Caspase 8 Deficiency