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Gene: Extl3 MGI:1860765

Gene Summary

Name:

exostosin-like glycosyltransferase 3

Synonyms:

2900009G18Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage
embryonic lethality prior to organogenesis	Extl3^em1(IMPC)Mbp	HOM	E9.5
small testis	Extl3^em1(IMPC)Mbp	HET	Late adult
abnormal spleen morphology	Extl3^em1(IMPC)Mbp	HET	Late adult
abnormal kidney morphology	Extl3^em1(IMPC)Mbp	HET	Late adult
small kidney	Extl3^em1(IMPC)Mbp	HET	Late adult
abnormal testis morphology	Extl3^em1(IMPC)Mbp	HET	Late adult
enlarged liver	Extl3^em1(IMPC)Mbp	HET	Late adult
microphthalmia	Extl3^em1(IMPC)Mbp	HET	Early adult
abnormal liver morphology	Extl3^em1(IMPC)Mbp	HET	Late adult
abnormal skin morphology	Extl3^em1(IMPC)Mbp	HET	Late adult
enlarged spleen	Extl3^em1(IMPC)Mbp	HET	Late adult
preweaning lethality, complete penetrance	Extl3^em1(IMPC)Mbp	HOM	Early adult
abnormal prostate gland morphology	Extl3^em1(IMPC)Mbp	HET	Late adult
abnormal eye morphology	Extl3^em1(IMPC)Mbp	HET	Early adult

Download data as: TSV XLS

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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

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X-ray

XRay Images Whole Body Dorso Ventral

108 Images

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X-ray

XRay Images Whole Body Lateral Orientation

60 Images

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X-ray

XRay Images Whole Body Lateral Orientation

12 Images

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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.

Human diseases associated with Extl3 (2 diseases)
Human diseases predicted to be associated with Extl3 (812 diseases)

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		Hepatomegaly, Decreased proportion of CD8-positive T cells, T lymphocytopenia, Decreased proporti...	ORPHA:508533
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities		Eosinophilia, Hepatic cysts, Lymphopenia	OMIM:617425

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

Disease	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	Microphthalmia, Anophthalmia	ORPHA:85275
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Splenomegaly	ORPHA:2274
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Microphthalmia/Coloboma 6	Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
Glycine N-Methyltransferase Deficiency	Hepatomegaly, Elevated circulating hepatic transaminase concentration	OMIM:606664
Congenital Disorder Of Glycosylation, Type Icc	Hepatomegaly	OMIM:301031
Microphthalmia/Coloboma 4	Microphthalmia	OMIM:251505
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Microphthalmia/Coloboma 7	Microphthalmia	OMIM:614497
Gombo Syndrome	Microphthalmia	OMIM:233270
Microphthalmia/Coloboma 3	Microphthalmia	OMIM:610092
Cholestasis, Progressive Familial Intrahepatic, 11	Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated circulating a...	OMIM:619874
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia	OMIM:251700
Neutropenia, Severe Congenital, 9, Autosomal Dominant	3-Methylglutaconic aciduria, Splenomegaly	OMIM:619813
Nephronophthisis 19	Hepatomegaly, Nephronophthisis, Cholestasis, Bile duct proliferation, Splenomegaly, Hepatic fibro...	OMIM:616217
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Hepatomegaly	ORPHA:79281
Microphthalmia/Coloboma 10	Microphthalmia, Anophthalmia	OMIM:616428
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Microphthalmia/Coloboma 5	Bilateral microphthalmos, Microphthalmia, Anophthalmia	OMIM:611638
Tyrosinemia Type 1	Hepatomegaly, Generalized aminoaciduria, Hepatocellular carcinoma, Acute hepatic failure, Splenom...	ORPHA:882
Hemoglobin H Disease	HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia	OMIM:613978
Hemochromatosis, Type 2B	Cirrhosis, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, Seconda...	OMIM:613313
Microphthalmia, Isolated 4	Microphthalmia	OMIM:613094
Isolated Splenogonadal Fusion	Abnormal epididymis morphology, Ectopia of the spleen, Bilateral cryptorchidism, Unilateral crypt...	ORPHA:457083
Nanophthalmos 4	Microphthalmia	OMIM:615972
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Neonatal Severe Primary Hyperparathyroidism	Abnormal circulating calcium-phosphate regulating hormone concentration, Hepatomegaly, Splenomega...	ORPHA:417
Hypogonadism, Male	Testicular atrophy, Male hypogonadism, Micropenis, Hypospadias	OMIM:241100
Nanophthalmos	Microphthalmia	ORPHA:35612
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia	OMIM:611038
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia	OMIM:206400
Proteasome-Associated Autoinflammatory Syndrome 5	Hepatomegaly, Splenomegaly	OMIM:619175
Cholestasis, Progressive Familial Intrahepatic, 12	Jaundice, Hepatomegaly, Cholestasis, Elevated circulating alanine aminotransferase concentration,...	OMIM:620010
Neutrophilia, Hereditary	Neutrophilia, Splenomegaly	OMIM:162830
Persistent Polyclonal B-Cell Lymphocytosis	Lymphocytosis, Hepatomegaly, Splenomegaly	OMIM:606445
Congenital Disorder Of Glycosylation, Type Iir	Decreased liver function, Jaundice, Hepatomegaly, Hypospadias, Elevated circulating hepatic trans...	OMIM:301045
Hypertriglyceridemia, Transient Infantile	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly, Hepatic fibr...	OMIM:614480
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Enlarged kidney, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Leukopenia, Extramedullary...	OMIM:615285
Encephalopathy Due To Prosaposin Deficiency	Hepatomegaly, Splenomegaly	ORPHA:139406
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E...	OMIM:603902
Hemochromatosis, Type 1	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Azoospermia, He...	OMIM:235200
Galactose Epimerase Deficiency	Aminoaciduria, Jaundice, Splenomegaly, Hepatomegaly	ORPHA:79238
Hyperbilirubinemia, Shunt, Primary	Jaundice, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Splenomegaly, Erythroid...	OMIM:237800
Erythroleukemia, Familial, Susceptibility To	Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplas...	OMIM:133180
Galactosemia Iv	Prolonged neonatal jaundice, Hepatomegaly	OMIM:618881
Galactosemia Iii	Jaundice, Hepatomegaly, Galactosuria, Splenomegaly, Aminoaciduria	OMIM:230350
Immunodeficiency 42	Splenomegaly, Hepatomegaly, Hypoplasia of the thymus	OMIM:616622
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:52416
Retinitis Pigmentosa 59	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Micropenis, Cryptorchidism...	OMIM:613861
Wolman Disease	Hepatomegaly, Acute hepatic failure, Splenomegaly, Adrenal calcification	OMIM:620151
Immunodeficiency 104	Splenomegaly, Hepatomegaly, Lymphadenopathy, T lymphocytopenia	OMIM:608971
Hemochromatosis, Type 2A	Cirrhosis, Hepatomegaly, Azoospermia, Infertility, Splenomegaly, Amenorrhea, Hypogonadotropic hyp...	OMIM:602390
Sclerosing Cholangitis, Neonatal	Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Vesic...	OMIM:617394
Sea-Blue Histiocyte Disease	Cirrhosis, Sea-blue histiocytosis, Elevated circulating alanine aminotransferase concentration, T...	OMIM:269600
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Fetal ascites, Hepatomegaly, Splenomegaly	OMIM:619462
Congenital Bile Acid Synthesis Defect Type 1	Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Bilia...	ORPHA:79301
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Pancytopenia	OMIM:183350
Splenoportal Vascular Anomalies	Cirrhosis, Anomalous splenoportal venous system, Ascites, Splenomegaly, Hepatic fibrosis, Diabete...	OMIM:271500
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Hepatomegaly, Alaninuria, Elevated circulating alanine aminotransferase concentration, Elevated c...	OMIM:615158
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microphthalmia	ORPHA:2432
Cholestasis, Progressive Familial Intrahepatic, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Portal fibrosis, Hepatomegaly, Elevated circulatin...	OMIM:602347
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Splenomegaly, Microcytic anemia	OMIM:618852
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis	OMIM:118830
Mu-Heavy Chain Disease	Hepatomegaly, Anemia, Lymphadenopathy, Bence Jones Proteinuria, Splenomegaly, Abnormal B cell cou...	ORPHA:100024
Bilateral Striopallidodentate Calcinosis	Abnormality of the liver, Hepatomegaly, Thrombocytopenia	ORPHA:1980
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly, Portal hyper...	OMIM:617068
Amyloidosis, Familial Visceral	Hepatomegaly, Hematuria, Cholestasis, Nephrotic syndrome, Splenomegaly, Proteinuria, Nephropathy	OMIM:105200
Isolated Follicle Stimulating Hormone Deficiency	Delayed puberty, Azoospermia, Decreased female libido, Oligozoospermia, Testicular atrophy, Delay...	ORPHA:52901
Trimethylaminuria	Trimethylaminuria, Anemia, Splenomegaly, Neutropenia	OMIM:602079
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Jaundice, Cholestasis, Elevated circulating alanine aminotransferase concentration, Hepatic bridg...	OMIM:619658
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Cirrhosis, Jaundice, Anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentratio...	OMIM:616860
Congenital Disorder Of Glycosylation, Type Ik	Hepatomegaly, Splenomegaly, Hypogonadism	OMIM:608540
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Splenomegaly, Portal hypertension	OMIM:610293
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Hepatomegaly, Ectopic kidney, Cystic renal dysplasia, Cryptorchidism	OMIM:613730
Hypereosinophilic Syndrome, Idiopathic	Eosinophilia, Hepatomegaly, Myeloproliferative disorder, Splenomegaly	OMIM:607685
Hemoglobin D Disease	Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ...	ORPHA:90039
Cholestasis, Progressive Familial Intrahepatic, 10	Jaundice, Portal fibrosis, Hepatomegaly, Elevated circulating alanine aminotransferase concentrat...	OMIM:619868
Bile Acid Synthesis Defect, Congenital, 5	Jaundice, Portal fibrosis, Iron deficiency anemia, Hepatomegaly, Elevated circulating hepatic tra...	OMIM:616278
Anemia, Congenital Dyserythropoietic, Type Ii	Jaundice, Cholelithiasis, Anemia of inadequate production, Reticulocytosis, Splenomegaly	OMIM:224100
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune thrombocytope...	ORPHA:444463
Microphthalmia, Isolated 6	Microphthalmia	OMIM:613517
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Anemia, Azoospermia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Elevated he...	OMIM:615234
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Neona...	OMIM:214900
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase con...	OMIM:616828
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Anemia, Hypospadias, Hypoplasia of penis, Ascites, Abnormality of the ureter, Splenomegaly	ORPHA:1046
Familial Partial Lipodystrophy, Köbberling Type	Hepatomegaly, Pancreatitis, Hyperinsulinemia, Polycystic ovaries, Diabetes mellitus, Hepatic stea...	ORPHA:79084
Cholestasis, Progressive Familial Intrahepatic, 9	Jaundice, Intrahepatic cholestasis, Hepatomegaly, Fibro-obliterative bile-duct lesion, Portal hyp...	OMIM:619849
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Abnormality of the lymphatic system, Portal hypertension, Abno...	ORPHA:1414
Coproporphyria, Hereditary	Elevated urinary delta-aminolevulinic acid, Jaundice, Hepatomegaly, Increased urinary porphobilin...	OMIM:121300
Spermatogenic Failure, X-Linked, 2	Male infertility, Spermatogenesis maturation arrest, Testicular atrophy, Azoospermia	OMIM:309120
Foveal Hypoplasia 2	Microphthalmia, Hypoplasia of the fovea	OMIM:609218
Progressive Familial Intrahepatic Cholestasis	Jaundice, Cholestasis, Splenomegaly, Hepatomegaly	ORPHA:172
Mast Cell Sarcoma	Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Splenomegaly	ORPHA:66661
Microphthalmia, Isolated, With Corectopia	Microphthalmia	OMIM:156900
Facial Clefting, Oblique, 1	Microphthalmia	OMIM:600251
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:86893
Isolated Polycystic Liver Disease	Hepatomegaly, Abnormality of the pancreas, Multiple renal cysts, Polycystic liver disease	ORPHA:2924
Congenital Varicella Syndrome	Microphthalmia	ORPHA:291
Immunodeficiency 16	Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia	OMIM:615593
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:231393
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Jaundice, Hemophagocytosis, Anemia, Lymphadenopathy, Thrombocytopenia, Splenomegaly...	OMIM:603552
Cholesteryl Ester Storage Disease	Cirrhosis, Jaundice, Hepatomegaly, Splenomegaly, Adrenal calcification, Hepatic failure	ORPHA:75234
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatomegaly, Hepatic bridging fibrosis, Splenomegaly, Hepatic fibrosis, Hepatic failure	OMIM:616719
Alpha-Heavy Chain Disease	Hepatomegaly, Anemia, Lymphadenopathy, Ascites, Splenomegaly	ORPHA:100025
Cerebrooculofacioskeletal Syndrome 3	Microphthalmia	OMIM:616570
Glycogen Storage Disease Vi	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Increased hepatic glycogen...	OMIM:232700
Galactosemia I	Decreased liver function, Cirrhosis, Hepatomegaly, Premature ovarian insufficiency, Galactosuria,...	OMIM:230400
Dyskeratosis Congenita, Autosomal Recessive 2	Cirrhosis, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Testicular atrophy	OMIM:613987
Beta-Thalassemia	Hepatomegaly, Anemia, Cholelithiasis, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin, Hypogo...	ORPHA:848
Hepatic Veno-Occlusive Disease	Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Ascites, Renal i...	ORPHA:890
Ras-Associated Autoimmune Leukoproliferative Disorder	Hepatomegaly, Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocyto...	OMIM:614470
Peroxisome Biogenesis Disorder 6A (Zellweger)	Decreased liver function, Hepatomegaly, Renal cyst	OMIM:614870
Beta-Thalassemia Intermedia	Decreased liver function, Proximal tubulopathy, Anemia of inadequate production, Splenomegaly, Hy...	ORPHA:231222
Biliary Atresia, Extrahepatic	Cirrhosis, Jaundice, Hepatomegaly, Portal fibrosis, Elevated circulating hepatic transaminase con...	OMIM:210500
Combined Oxidative Phosphorylation Deficiency 34	Elevated circulating thyroid-stimulating hormone concentration, Hepatomegaly, Pancytopenia, Hyper...	OMIM:617872
Mmep Syndrome	Microphthalmia	ORPHA:3434
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Thyroiditis...	OMIM:619375
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Delayed puberty, Cirrhosis, Hepatomegaly, Portal fibrosis, Elevated circulating hepatic transamin...	ORPHA:369
Autoimmune Lymphoproliferative Syndrome, Type Iii	Autoimmune hemolytic anemia, Stage 5 chronic kidney disease, Hepatomegaly, Mediastinal lymphadeno...	OMIM:615559
Anemia, Congenital Dyserythropoietic, Type Ib	Jaundice, Anemia, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Poikilocytosis,...	OMIM:615631
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Hypersplenism	OMIM:610539
Microphthalmia, Isolated 8	Optic nerve hypoplasia, Microphthalmia, True anophthalmia, Anophthalmia	OMIM:615113
Red Cell Phospholipid Defect With Hemolysis	Intermittent jaundice, Splenomegaly, Reticulocytosis	OMIM:179700
Diffuse Neonatal Hemangiomatosis	Hepatomegaly, Anemia, Abnormal vagina morphology, Ascites, Thrombocytopenia, Renal insufficiency	ORPHA:2123
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Microphthalmia	OMIM:120433
Cyanosis, Transient Neonatal	Jaundice, Anemia, Hepatomegaly, Reticulocytosis, Methemoglobinemia	OMIM:613977
Niemann-Pick Disease, Type B	Sea-blue histiocytosis, Anemia, Hepatomegaly, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly	OMIM:607616
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Unilateral renal agenesis, Azoospermia, Decreased circulating follicle stimulating hormone concen...	OMIM:308700
Bile Acid Synthesis Defect, Congenital, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Acholic stools, Elevated circulating...	OMIM:613812
Lipodystrophy, Congenital Generalized, Type 3	Hepatomegaly, Hepatosplenomegaly, Splenomegaly, Primary amenorrhea, Diabetes mellitus, Hepatic st...	OMIM:612526
Microcephaly-Microcornea Syndrome, Seemanova Type	Microphthalmia	ORPHA:2528
Kallmann Syndrome With Spastic Paraplegia	Unilateral renal agenesis, Decreased circulating follicle stimulating hormone concentration, Decr...	OMIM:308750
Immunodeficiency, Common Variable, 6	Enlarged kidney, Hepatomegaly, Nephrotic range proteinuria, Abnormal T cell count, Hydronephrosis...	OMIM:613496
Symptomatic Form Of Hfe-Related Hemochromatosis	Cirrhosis, Hepatomegaly, Erectile dysfunction, Hepatocellular carcinoma, Chronic hepatic failure,...	ORPHA:465508
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Harderoporphyria	Hepatomegaly, Increased urine harderoporphyrin level, Increased urinary porphobilinogen, Red urin...	OMIM:618892
Fryns Microphthalmia Syndrome	Microphthalmia, Anophthalmia	OMIM:600776
Immunodeficiency 48	Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Splenomegaly, Abnormal ...	OMIM:269840
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatocellular carcinoma, ...	OMIM:619463
Gray Platelet Syndrome	Thrombocytopenia, Splenomegaly, Abnormality of the menstrual cycle	ORPHA:721
Osteopetrosis, Autosomal Dominant 3	Hepatomegaly, Anemia, Splenomegaly, Hyperparathyroidism	OMIM:618107
Cholesteryl Ester Storage Disease	Leukopenia, Splenomegaly, Acute hepatic failure, Hepatic steatosis, Increased hepatic echogenicit...	OMIM:278000
Alpha-1-Antitrypsin Deficiency	Cirrhosis, Hepatocellular carcinoma, Elevated circulating hepatic transaminase concentration, Spl...	OMIM:613490
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia	OMIM:614830
Xeroderma Pigmentosum, Complementation Group G	Microphthalmia	OMIM:278780
Desmoplastic Small Round Cell Tumor	Hepatomegaly, Anemia, Lymphadenopathy, Neoplasm of the pancreas, Abnormal peritoneum morphology, ...	ORPHA:83469
Hepatitis, Fulminant Viral, Susceptibility To	Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Fulminant hepati...	OMIM:618549
Adams-Oliver Syndrome 4	Microphthalmia	OMIM:615297
Renal-Hepatic-Pancreatic Dysplasia 1	Stage 5 chronic kidney disease, Cirrhosis, Hyperechogenic pancreas, Hepatomegaly, Enlarged kidney...	OMIM:208540
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Jaundice, Hepatomegaly, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Incr...	OMIM:194380
Cystic Echinococcosis	Cholestatic liver disease, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase conc...	ORPHA:400
Glycogen Storage Disease Ixc	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Increased hepat...	OMIM:613027
Immunodeficiency 69	Anemia, Hemophagocytosis, Pancytopenia, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Thrombocy...	OMIM:618963
Spinocerebellar Ataxia 32	Infertility, Testicular atrophy, Azoospermia	OMIM:613909
Kennedy Disease	Decreased fertility, Type II diabetes mellitus, Erectile dysfunction, Testicular atrophy	ORPHA:481
Meckel Syndrome, Type 3	Hepatomegaly, Bile duct proliferation, Hepatic fibrosis, Multicystic kidney dysplasia, Malformati...	OMIM:607361
Spinocerebellar Ataxia Type 32	Male infertility, Testicular atrophy, Azoospermia	ORPHA:276183
Dietary Iron Overload Disease	Abnormal adrenal morphology, Hepatomegaly, Abnormal pancreas morphology, Hepatocellular carcinoma...	ORPHA:139507
Craniotelencephalic Dysplasia	Optic nerve hypoplasia, Microphthalmia	OMIM:218670
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Enlarged kidney, Hepatomegaly, Periportal fibrosis, Tubulointerstitial fibrosis, Polycystic kidne...	OMIM:263200
Pyruvate Kinase Deficiency Of Red Cells	Chronic hemolytic anemia, Jaundice, Reduced red cell pyruvate kinase level, Cholelithiasis, Hepat...	OMIM:266200
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Hepatomegaly, Splenomegaly	ORPHA:2204
Gaucher Disease Type 2	Hepatomegaly, Splenomegaly	ORPHA:77260
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Jaundice, Normochromic anemia, Cholelithiasis, Nonspherocytic hemolytic anemia...	OMIM:235700
Sickle Cell Disease	Jaundice, Hepatomegaly, Hematuria, Cholelithiasis, Splenic infarction, Leukocytosis, Target cells...	OMIM:603903
Immunodeficiency 54	Hepatomegaly, Lymphadenopathy, Adrenocorticotropic hormone excess, Splenomegaly, Reduced natural ...	OMIM:609981
Aicardi-Goutieres Syndrome 4	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Pancytopenia, Thrombocytop...	OMIM:610333
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Anemia, Acute myeloid leukemia, Hemophagocytosis, Pancytopenia, Elevated circulating hepatic tran...	ORPHA:158057
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia	OMIM:267760
Immunodeficiency 84	B lymphocytopenia, Splenomegaly	OMIM:619437
Cataract 9, Multiple Types	Microphthalmia	OMIM:604219
Babesiosis	Jaundice, Hepatomegaly, Leukopenia, Splenomegaly, Thrombocytopenia, Renal insufficiency, Hemolyti...	ORPHA:108
Caroli Disease	Cirrhosis, Intrahepatic cholestasis, Jaundice, Cholangitis, Cholelithiasis, Hepatomegaly, Liver a...	ORPHA:53035
Idiopathic Uveal Effusion Syndrome	Microphthalmia	ORPHA:209956
Glycogen Storage Disease Ixb	Hepatomegaly, Splenomegaly, Increased hepatic glycogen content	OMIM:261750
Pfapa Syndrome	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:42642
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemi...	ORPHA:75564
Cholestasis, Progressive Familial Intrahepatic, 1	Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis with episodic jaundic...	OMIM:211600
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Fanconi Anemia, Complementation Group J	Microphthalmia	OMIM:609054
Microphthalmia, Syndromic 12	Microphthalmia, Anophthalmia	OMIM:615524
Mulibrey Nanism	Hepatomegaly	ORPHA:2576
Galactose Mutarotase Deficiency	Decreased liver function, Hepatomegaly, Cholestasis	ORPHA:570422
Cold Agglutinin Disease	Hepatomegaly, Lymphadenopathy, Splenomegaly, Abnormal urinary color, Hemolytic anemia	ORPHA:56425
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R...	ORPHA:251380
Hepatoportal Sclerosis	Abnormal liver parenchyma morphology, Jaundice, Anemia, Elevated circulating hepatic transaminase...	ORPHA:64743
Dihydropyrimidine Dehydrogenase Deficiency	Microphthalmia	OMIM:274270
Dubin-Johnson Syndrome	Jaundice, Hepatomegaly, Biliary tract abnormality, Abnormality of the liver, Abnormal urinary color	ORPHA:234
Classic Galactosemia	Delayed puberty, Premature ovarian insufficiency, Jaundice, Elevated circulating hepatic transami...	ORPHA:79239
Wolman Disease	Hepatomegaly, Anemia, Bone-marrow foam cells, Ascites, Adrenal insufficiency, Splenomegaly, Adren...	ORPHA:75233
Cholestasis, Progressive Familial Intrahepatic, 2	Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Hepatocellular carcinoma, Intermittent jaundic...	OMIM:601847
Immunodeficiency 52	Lymphadenopathy, Abnormal natural killer cell count, T lymphocytopenia, Splenomegaly, Abnormal B ...	OMIM:617514
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased proportion of t...	OMIM:615513
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Jaundice, Cholelithiasis, Spontaneous hemolytic crises, Nonspherocytic hemolytic anemia, Impaired...	OMIM:613470
Lymphoproliferative Syndrome, X-Linked, 2	Aplastic anemia, Hepatomegaly, Hemophagocytosis, Pancytopenia, Splenomegaly, Hepatitis	OMIM:300635
Follicular Lymphoma	Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Abnormal peritoneum morphology	ORPHA:545
Immunodeficiency 76	Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Splenomegaly, Lymphopenia	OMIM:619164
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Microphthalmia	OMIM:610023
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Jaundice, Hepatomegaly, Cholestasis, Portal hypertension, Splenomegaly	ORPHA:59303
Biemond Syndrome Type 2	Microphthalmia	ORPHA:141333
Craniotelencephalic Dysplasia	Microphthalmia, Septo-optic dysplasia	ORPHA:1528
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia	OMIM:615771
Microphthalmia, Syndromic 13	Microphthalmia	OMIM:300915
Fanconi Anemia, Complementation Group G	Microphthalmia	OMIM:614082
Heme Oxygenase 1 Deficiency	Hepatomegaly, Hematuria, Lymphadenopathy, Elevated circulating alanine aminotransferase concentra...	OMIM:614034
Anemia, Congenital Dyserythropoietic, Type Iv	Hepatomegaly, Anemia, Reduced hematocrit, Hypospadias, Anemia of inadequate production, Persisten...	OMIM:613673
Hereditary Amyloidosis With Primary Renal Involvement	Decreased liver function, Male infertility, Hepatomegaly, Abnormal lymph node morphology, Lymphad...	ORPHA:85450
Bile Acid Synthesis Defect, Congenital, 1	Cirrhosis, Jaundice, Intrahepatic cholestasis, Giant cell hepatitis, Hepatomegaly, Elevated circu...	OMIM:607765
Dehydrated Hereditary Stomatocytosis 2	Anisopoikilocytosis, Jaundice, Hepatomegaly, Increased mean corpuscular hemoglobin concentration,...	OMIM:616689
Hemochromatosis, Type 4	Cirrhosis, Hepatomegaly, Anemia, Impotence, Diabetes mellitus, Hepatic steatosis	OMIM:606069
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Abnormal lymph node morphology, Anemia, Leukocytosis, Hepatosplenomegaly, Splenomeg...	OMIM:612840
Galactokinase Deficiency	Premature ovarian insufficiency, Hyperinsulinemia, Hepatomegaly, Hypergonadotropic hypogonadism, ...	ORPHA:79237
Bile Acid Conjugation Defect 1	Jaundice, Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated cir...	OMIM:619232
Indolent Systemic Mastocytosis	Hepatomegaly, Increased proportion of CD25+ mast cells, Lymphadenopathy, Mastocytosis, Splenomega...	ORPHA:98848
Adams-Oliver Syndrome 6	Renal hypoplasia, Hepatic fibrosis, Splenomegaly, Portal hypertension	OMIM:616589
Cholestasis, Benign Recurrent Intrahepatic, 2	Jaundice, Intrahepatic cholestasis, Cholelithiasis, Hepatomegaly	OMIM:605479
Cholestasis, Progressive Familial Intrahepatic, 8	Cirrhosis, Jaundice, Hepatomegaly, Sclerosing cholangitis, Cholestasis, Portal hypertension, Bile...	OMIM:619662
B-Cell Expansion With Nfkb And T-Cell Anergy	Increased B cell count, Splenomegaly	OMIM:616452
Schnitzler Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Splenomegaly	ORPHA:37748
2Q24 Microdeletion Syndrome	Microphthalmia	ORPHA:1617
Microphthalmia, Syndromic 11	Microphthalmia	OMIM:614402
Fish-Eye Disease	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:79292
Bile Acid Synthesis Defect, Congenital, 2	Jaundice, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Hepa...	OMIM:235555
Akt2-Related Familial Partial Lipodystrophy	Hepatomegaly, Decreased serum leptin, Oligomenorrhea, Decreased adiponectin level, Polycystic ova...	ORPHA:79085
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Microphthalmia	OMIM:616171
Spherocytosis, Type 1	Jaundice, Cholelithiasis, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:182900
Ornithine Transcarbamylase Deficiency	Aminoaciduria, Splenomegaly, Hepatic failure	ORPHA:664
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Anemia, Lymphadenopathy, Hemophagocytosis, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly	OMIM:613101
Cardiomyopathy, Familial Restrictive, 6	Hepatic artery hyperplasia, Hepatomegaly, Portal vein hypoplasia, Ascites	OMIM:619433
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Neutropenia in presence of ant...	OMIM:601859
Microphthalmia, Isolated 5	Microphthalmia	OMIM:611040
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Decreased CD4:CD8 ratio	OMIM:618495
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Genital ulcers, Hepatomegaly, Aplasia of the thymus, B lymphocytopenia, Eosinophilia, Lymph node ...	OMIM:602450
Joubert Syndrome 37	Hepatomegaly, Decreased testicular size, Hydronephrosis, Cryptorchidism, Micropenis	OMIM:619185
Immunodeficiency 64 With Lymphoproliferation	Autoimmune hemolytic anemia, Cervical lymphadenopathy, Mediastinal lymphadenopathy, Lymphadenopat...	OMIM:618534
Lymphoproliferative Syndrome 2	Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Ascites, Hepatosp...	OMIM:615122
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Anemia, Pancreatitis, Thrombocytopenia, Splenomegaly, Renal insufficiency, Neutropenia	ORPHA:79312
Sea-Blue Histiocytosis	Sea-blue histiocytosis, Mediastinal lymphadenopathy, Hepatomegaly, Thrombocytopenia, Splenomegaly	ORPHA:158029
Transaldolase Deficiency	Decreased liver function, Cirrhosis, Hepatomegaly, Anemia, Clitoral hypertrophy, Pancytopenia, He...	OMIM:606003
Vitamin B12-Responsive Methylmalonic Acidemia	Hepatomegaly, Anemia, Renal insufficiency	ORPHA:28
Osteopetrosis, Autosomal Recessive 8	Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly	OMIM:615085
X-Linked Sideroblastic Anemia	Elevated circulating hepatic transaminase concentration, Anemia, Splenomegaly	ORPHA:75563
Immunodeficiency, Common Variable, 2	Hepatomegaly, Lymphadenopathy, Abnormal T cell count, Splenomegaly, Follicular hyperplasia	OMIM:240500
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil...	ORPHA:766
Macrocephaly/Autism Syndrome	Hepatomegaly, Splenomegaly, Lymphopenia, Penile freckling, Hydrocele testis	OMIM:605309
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia	ORPHA:231401
Isolated Biliary Atresia	Decreased liver function, Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transam...	ORPHA:30391
Budd-Chiari Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Ascit...	ORPHA:131
Myotonic Dystrophy 1	Hypogonadism, Testicular atrophy, Cholelithiasis	OMIM:160900
Renal-Hepatic-Pancreatic Dysplasia 2	Enlarged kidney, Hepatomegaly, Cholestasis, Asplenia, Hepatic cysts, Hepatic fibrosis, Malformati...	OMIM:615415
Xk Aprosencephaly Syndrome	Microphthalmia	ORPHA:3469
Propionic Acidemia	Hepatomegaly, Organic aciduria	ORPHA:35
Wilson Disease	Cirrhosis, Jaundice, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentratio...	ORPHA:905
Lig4 Syndrome	Acute leukemia, Hepatomegaly, Lymphadenopathy, Pancytopenia, Hypoplasia of penis, Leukocytosis, H...	ORPHA:99812
Glycogen Storage Disease Ixa1	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly	OMIM:306000
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Elevated circulating alani...	OMIM:615381
Aa Amyloidosis	Acute kidney injury, Enlarged kidney, Hepatomegaly, Cholestasis, Nephrotic syndrome, Hypothyroidi...	ORPHA:85445
Cofs Syndrome	Microphthalmia	ORPHA:1466
Immunodeficiency 7	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Hypereosinophilia, Neut...	OMIM:615387
Wolfram Syndrome 1	Hydroureter, Diabetes insipidus, Megaloblastic anemia, Neurogenic bladder, Hypothyroidism, Sidero...	OMIM:222300
Immunodeficiency 27A	Anemia, Thrombocytosis, Lymphadenopathy, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Enlarged...	OMIM:209950
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Decreased fertility, Testicular atrophy	OMIM:313200
Hemoglobin E Disease	Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H...	ORPHA:2133
Griscelli Syndrome Type 2	Jaundice, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Splenomegaly, Neutropenia	ORPHA:79477
Hurler-Scheie Syndrome	Abnormality of the tonsils, Hepatomegaly, Splenomegaly	ORPHA:93476
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Nephronophthisis, Cholestasis, Splenomegaly, Chronic kidney disease, Hepatic fibros...	OMIM:615630
Immunodeficiency, Common Variable, 1	Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, B lymphocyt...	OMIM:607594
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Lymphadenopathy, Neutropenia i...	OMIM:603909
Pparg-Related Familial Partial Lipodystrophy	Cirrhosis, Hepatomegaly, Pancreatitis, Maternal diabetes, Secondary amenorrhea, Oligomenorrhea, D...	ORPHA:79083
Cidec-Related Familial Partial Lipodystrophy	Hepatomegaly, Pancreatitis, Decreased serum leptin, Oligomenorrhea, Decreased adiponectin level, ...	ORPHA:435651
Gaucher Disease, Type Iii	Hepatomegaly, Thrombocytopenia, Splenomegaly, Pancytopenia	OMIM:231000
Tafro Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Ascites, Thrombocytopenia, Splenomegaly, Hep...	ORPHA:457077
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Delayed puberty, Hepatocellular adenoma, Cirrhosis, Portal fibrosis, Hepatomegaly, Anemia, Renal ...	ORPHA:264580
Leishmaniasis	Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concentration, P...	ORPHA:507
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Abnormal fallopian tube morphology, Pancreatic lymphangiectasis, Ascites, Hydroneph...	ORPHA:1655
Infantile Liver Failure Syndrome 3	Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cholestasis, Hep...	OMIM:618641
Lymphoproliferative Syndrome, X-Linked, 1	Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Lymphocytosis, Fu...	OMIM:308240
Coach Syndrome 1	Cirrhosis, Hepatomegaly, Nephronophthisis, Unilateral renal agenesis, Elevated circulating hepati...	OMIM:216360
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Jaundice, Hepatomegaly, Sclerosing cholangitis, Intrahepatic biliary atresia, Cholestasis, Portal...	OMIM:607626
Polycystic Liver Disease 2 With Or Without Kidney Cysts	Hepatic cysts, Hepatomegaly	OMIM:617004
Spherocytosis, Type 5	Jaundice, Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia...	OMIM:612690
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Microphthalmia	ORPHA:324416
Neuraminidase Deficiency	Hepatomegaly, Vacuolated lymphocytes, Bone-marrow foam cells, Ascites, Urinary excretion of sialy...	OMIM:256550
Alpha-Thalassemia	Anisopoikilocytosis, Hemoglobin Barts, Jaundice, Anemia, Cholelithiasis, Reticulocytosis, Hepatos...	ORPHA:846
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Cholestatic liver disease, Jaundice, Giant cell hepatitis, Hepatomegaly, Elevated circulating hep...	OMIM:613404
Gaucher Disease Type 1	Delayed puberty, Cirrhosis, Hepatomegaly, Anemia, Hematuria, Cholelithiasis, Pancytopenia, Biliar...	ORPHA:77259
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Jaundice, Hepatomegaly, Anemia of inadequate production, Exocrine pancreatic insufficiency, Splen...	OMIM:612714
Erythrocytosis, Familial, 8	Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo...	OMIM:222800
Congenital Disorder Of Glycosylation, Type Ib	Cirrhosis, Lymphangiectasis, Hepatomegaly, Proximal tubulopathy, Renal cyst, Hyperinsulinemic hyp...	OMIM:602579
Severe Combined Immunodeficiency, X-Linked	Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the thymu...	OMIM:300400
Classic Hodgkin Lymphoma	Bone marrow hypocellularity, Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:391
Thrombocythemia 1	Thrombocytosis, Splenomegaly	OMIM:187950
Primary Myelofibrosis	Hepatomegaly, Anemia, Thrombocytosis, Lymphadenopathy, Pancytopenia, Leukocytosis, Portal hyperte...	ORPHA:824
Alpha-1-Antitrypsin Deficiency	Cirrhosis, Jaundice, Hepatomegaly, Hepatocellular carcinoma, Cholestasis, Nephrotic syndrome, Hep...	ORPHA:60
Congenital Disorder Of Glycosylation, Type Ih	Decreased liver function, Hepatomegaly, Anemia, Cholestasis, Ascites, Hypothyroidism, Thrombocyto...	OMIM:608104
Parenteral Nutrition-Associated Cholestasis	Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chole...	ORPHA:567983
Caroli Syndrome	Cirrhosis, Intrahepatic cholestasis, Jaundice, Cholangitis, Pancreatitis, Hepatomegaly, Liver abs...	ORPHA:480520
Oculocerebrocutaneous Syndrome	Microphthalmia, Anophthalmia	OMIM:164180
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:163596
Cat-Eye Syndrome	Microphthalmia	ORPHA:195
Cryoglobulinemic Vasculitis	Hepatomegaly, Mediastinal lymphadenopathy, Hematuria, Viral hepatitis, Splenomegaly, Proteinuria,...	ORPHA:91138
Cholestasis, Benign Recurrent Intrahepatic, 1	Intrahepatic cholestasis with episodic jaundice, Hepatomegaly, Pancreatitis, Intermittent jaundice	OMIM:243300
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Thyroiditis, Abnormal lymphocyte morphology, Leukocytosis,...	ORPHA:39041
Niemann-Pick Disease, Type A	Sea-blue histiocytosis, Hepatomegaly, Lymphadenopathy, Bone-marrow foam cells, Ascites, Elevated ...	OMIM:257200
Congenital Pulmonary Lymphangiectasia	Ascites, Hepatomegaly, Splenomegaly	ORPHA:2414
Triploidy	Abnormality of the gallbladder, Hepatomegaly, Hypospadias, Hypoplasia of penis, Ambiguous genital...	ORPHA:3376
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, B lymphocytopenia, ...	OMIM:301078
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Hepatomegaly, Anemia, Splenomegaly	OMIM:620296
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	3-Methylglutaconic aciduria, Hepatomegaly, Hypospadias, Cryptorchidism	ORPHA:1194
Pierpont Syndrome	Microphthalmia	ORPHA:487825
Pediatric Hepatocellular Carcinoma	Portal vein thrombosis, Hepatic fibrosis, Hepatomegaly, Hepatic necrosis	ORPHA:33402
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Hepatomegaly, Decreased testicular size, Splenomegaly, Hypogonadism, Decreased serum testosterone...	OMIM:201100
Bone Marrow Failure Syndrome 5	Anemia, Erythroid hypoplasia, Pure red cell aplasia, Hypogonadism, Testicular atrophy	OMIM:618165
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatocellular adenoma, Cirrhosis, Hepatomegaly, Anemia, Elevated circulating hepatic transaminas...	ORPHA:79240
Overhydrated Hereditary Stomatocytosis	Jaundice, Hepatomegaly, Increased mean corpuscular volume, Reticulocytosis, Prolonged neonatal ja...	OMIM:185000
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Chronic tubulointerstitial nephritis, Hepatomegaly, Renal hypoplasia, Proteinuria, Stage 5 chroni...	OMIM:614376
Deafness-Lymphedema-Leukemia Syndrome	Acute leukemia, Hepatomegaly, Lymphadenopathy, Abnormal neutrophil count, Myeloproliferative diso...	ORPHA:3226
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Pancreatic lymphangiectasis, Ascites, Hydronephrosis, Splenomegaly, Pulmonary lymph...	OMIM:235255
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia	ORPHA:1135
Anterior Segment Dysgenesis 5	Rieger anomaly, Microphthalmia, Hypoplasia of the fovea, Hypoplasia of the iris	OMIM:604229
Congenital Bile Acid Synthesis Defect Type 2	Jaundice, Giant cell hepatitis, Hepatomegaly, Elevated circulating hepatic transaminase concentra...	ORPHA:79303
Myelofibrosis	Hepatomegaly, Hemophagocytosis, Myeloproliferative disorder, Splenomegaly, Extramedullary hematop...	OMIM:254450
Autoimmune Hepatitis	Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Sclerosing cholangi...	ORPHA:2137
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Jaundice, Hepatomegaly, Microvesicular hepatic steatosis, Cholestasis, Elevated circulating alani...	OMIM:618528
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Microphthalmia	ORPHA:1473
Oculoskeletodental Syndrome	Hepatomegaly, Hypercalciuria, Mucopolysacchariduria, Hypothyroidism, Splenomegaly, Cryptorchidism	OMIM:618440
Immunodeficiency 32B	Hepatomegaly, Anemia, Monocytopenia, Neutrophilia, Thrombocytopenia, Splenomegaly, Eosinophilia, ...	OMIM:226990
Congenital Generalized Lipodystrophy	Cirrhosis, Hepatomegaly, Clitoral hypertrophy, Precocious puberty in females, Hyperinsulinemia, O...	ORPHA:528
Osteopetrosis, Autosomal Recessive 4	Hepatomegaly, Anemia, Reticulocytosis, Thrombocytopenia, Splenomegaly	OMIM:611490
Glycogen Storage Disease Xii	Delayed puberty, Normocytic anemia, Jaundice, Hepatomegaly, Decreased erythrocyte fructose-1,6-bi...	OMIM:611881
Pierpont Syndrome	Microphthalmia	OMIM:602342
Thrombocytopenia With Beta-Thalassemia, X-Linked	Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni...	OMIM:314050
Griscelli Syndrome	Jaundice, Hepatomegaly, Lymphadenopathy, Ascites, Bone marrow hypocellularity, Leukopenia, Spleno...	ORPHA:381
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Microphthalmia	OMIM:251270
Lymphoproliferative Syndrome 1	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopeni...	OMIM:613011
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Elevated circulating thyroid-stimulating hormone concentration, Hepatomegaly, Splenic cyst, Polyc...	OMIM:610199
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Generalized amin...	OMIM:251880
Congenital Primary Aphakia	Microphthalmia, Aniridia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenita...	ORPHA:83461
Familial Partial Lipodystrophy, Dunnigan Type	Hepatomegaly, Pancreatitis, Secondary amenorrhea, Dysmenorrhea, Splenomegaly, Polycystic ovaries,...	ORPHA:2348
Klatskin Tumor	Jaundice, Hepatomegaly, Lymphadenopathy, Cholangiocarcinoma, Extrahepatic cholestasis	ORPHA:99978
Microphthalmia, Syndromic 8	Microphthalmia	OMIM:601349
Dominant Beta-Thalassemia	Delayed puberty, Splenomegaly, Decreased mean corpuscular volume, Adrenal insufficiency, Jaundice...	ORPHA:231226
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Reduced renal corticomedullary differentiation, Hepatomegaly, Splenomegaly	OMIM:618541
Fetal Cytomegalovirus Syndrome	Jaundice, Anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Thromboc...	ORPHA:294
Beta-Thalassemia Major	Delayed puberty, Anemia of inadequate production, Splenomegaly, Decreased mean corpuscular volume...	ORPHA:231214
Warburg Micro Syndrome 1	Microphthalmia	OMIM:600118
Lipe-Related Familial Partial Lipodystrophy	Abnormal labia majora morphology, Hepatomegaly, Decreased serum leptin, Oligomenorrhea, Decreased...	ORPHA:435660
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoplasia of the thymus, Severe B lymp...	OMIM:603554
Lipodystrophy, Familial Partial, Type 5	Hepatomegaly, Decreased serum leptin, Decreased adiponectin level, Diabetic ketoacidosis, Hepatic...	OMIM:615238
Aredyld Syndrome	Hepatomegaly, Abnormality of the ureter, Splenomegaly, Type II diabetes mellitus, Type I diabetes...	ORPHA:1133
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Hepatomegaly, Micropenis, Hydrocele testis	OMIM:618810
Meckel Syndrome, Type 8	Microphthalmia, Anophthalmia	OMIM:613885
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Optic nerve hypoplasia, Microphthalmia	OMIM:615181
Neonatal Lupus Erythematosus	Aplastic anemia, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, P...	ORPHA:398124
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Microphthalmia	OMIM:601794
Glycogen Storage Disease Ib	Delayed puberty, Enlarged kidney, Hepatomegaly, Pancreatitis, Decreased glomerular filtration rat...	OMIM:232220
Congenital Disorder Of Glycosylation, Type Iiaa	Hepatomegaly, Unilateral renal agenesis, Cholestasis, Biliary cirrhosis, Hydronephrosis, Elevated...	OMIM:620454
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Lymphadenopathy, B lymphocytopenia, Splenomegaly, Intermittent thrombocytopenia, Abnormal CD4:CD8...	OMIM:150550
Overhydrated Hereditary Stomatocytosis	Decreased mean corpuscular hemoglobin concentration, Intermittent jaundice, Reticulocytosis, Abno...	ORPHA:3203
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Microphthalmia	OMIM:613155
Kaposiform Lymphangiomatosis	Enlarged kidney, Anemia, Abnormality of the lymphatic system, Abnormal spleen morphology, Abnorma...	ORPHA:464329
Macrophage Activation Syndrome	Decreased liver function, Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell co...	ORPHA:158061
Peroxisome Biogenesis Disorder 2A (Zellweger)	Clitoral hypertrophy, Jaundice, Hepatomegaly, Polycystic kidney dysplasia, Intrahepatic biliary d...	OMIM:214110
Anemia, Congenital Dyserythropoietic, Type Ia	Hepatomegaly, Macrocytic dyserythropoietic anemia, Anemia of inadequate production, Bite cells, R...	OMIM:224120
Fanconi-Bickel Syndrome	Hepatomegaly, Generalized aminoaciduria, Increased hepatic glycogen content, Renal tubular acidos...	ORPHA:2088
Mpi-Cdg	Decreased liver function, Hepatomegaly, Portal hypertension, Hypothyroidism, Hyperinsulinemic hyp...	ORPHA:79319
Short Fifth Metacarpals-Insulin Resistance Syndrome	Hyperinsulinemia, Spherocytosis, Splenomegaly	ORPHA:66518
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
Congenital Toxoplasmosis	Microphthalmia	ORPHA:858
Temtamy Syndrome	Microphthalmia	ORPHA:1777
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Microphthalmia	ORPHA:48431
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Dehydrated Hereditary Stomatocytosis	Macrocytic anemia, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Increased...	ORPHA:3202
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morpholog...	ORPHA:100026
Spherocytosis, Type 4	Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:612653
Developmental Delay With Variable Neurologic And Brain Abnormalities	Microphthalmia	OMIM:619694
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia	ORPHA:363741
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Jaundice, Hepatomegaly, Anemia, Abnormal natural killer cell count, Pancytopenia, Elevated circul...	ORPHA:79124
Autosomal Dominant Keratitis	Bilateral microphthalmos, Aniridia, Hypoplastic iris stroma, Hypoplasia of the fovea, Macular hyp...	ORPHA:2334
Polycythemia Vera	Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro...	OMIM:263300
Liver Failure, Infantile, Transient	Jaundice, Macrovesicular hepatic steatosis, Hepatomegaly, Dicarboxylic aciduria, Elevated circula...	OMIM:613070
Joubert Syndrome 22	Microphthalmia	OMIM:615665
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
Braddock-Carey Syndrome 2	Microphthalmia	OMIM:619981
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Jaundice, Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Prol...	OMIM:300908
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Microphthalmia	OMIM:602501
Oculogastrointestinal Neurodevelopmental Syndrome	Bilateral microphthalmos, Unilateral microphthalmos	OMIM:619318
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Lymphadenopathy, Recurrent tonsillitis, Acute pancreatitis, Lymphadenitis, Nephrotic syndrome, He...	OMIM:618935
Spherocytosis, Type 2	Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia	OMIM:616649
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Renal hypoplasia, Hepatomegaly, Ketonuria	OMIM:619053
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microphthalmia	ORPHA:231736
Hereditary Spherocytosis	Jaundice, Hepatomegaly, Anemia, Cholelithiasis, Spontaneous hemolytic crises, Increased mean corp...	ORPHA:822
Cog5-Cdg	Hepatomegaly, Urinary incontinence, Elevated circulating hepatic transaminase concentration, Neur...	ORPHA:263487
Hartsfield Syndrome	Microphthalmia	ORPHA:2117
Chronic Myeloid Leukemia	Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl...	ORPHA:521
Acrocephalopolydactylous Dysplasia	Enlarged kidney, Hepatomegaly, Cystic renal dysplasia, Ascites, Hepatic fibrosis, Pancreatic fibr...	OMIM:200995
Developmental And Epileptic Encephalopathy 1	Microphthalmia	OMIM:308350
8P11.2 Deletion Syndrome	Hypoplasia of penis, Azoospermia, Spherocytosis, Abnormality of the hypothalamus-pituitary axis, ...	ORPHA:251066
Wolcott-Rallison Syndrome	Hepatomegaly, Jaundice, Iron deficiency anemia, Elevated circulating hepatic transaminase concent...	ORPHA:1667
Linear Skin Defects With Multiple Congenital Anomalies 2	Microphthalmia	OMIM:300887
Thrombocytopenia, Anemia, And Myelofibrosis	Anisopoikilocytosis, Thrombocytopenia, Anemia, Splenomegaly	OMIM:617441
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope...	ORPHA:231154
Proteasome-Associated Autoinflammatory Syndrome 4	Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly, Lymphadenopathy	OMIM:619183
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Microphthalmia	ORPHA:93267
Systemic-Onset Juvenile Idiopathic Arthritis	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:85414
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Microphthalmia	ORPHA:2547
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Splenomegaly, Pancytopenia	OMIM:614979
Immunodeficiency 10	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Abnormal lymphocyte count, Nephrotic ...	OMIM:612783
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Testicular atrophy	OMIM:601163
Poems Syndrome	Hepatomegaly, Erectile dysfunction, Lymphadenopathy, Abnormality of the endocrine system, Viscero...	ORPHA:2905
Cornea Plana 2, Autosomal Recessive	Microphthalmia	OMIM:217300
Familial Hemophagocytic Lymphohistiocytosis	Cholestatic liver disease, Decreased liver function, Jaundice, Hepatomegaly, Hemophagocytosis, An...	ORPHA:540
Joubert Syndrome With Hepatic Defect	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Renal insuffici...	ORPHA:1454
Frontonasal Dysplasia 3	Microphthalmia	OMIM:613456
Drug-Induced Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Abnormal urinary color, Splenomegaly	ORPHA:90037
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Ketonuria, Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Hepatic ste...	OMIM:261680
Hyperparathyroidism, Neonatal Severe	Polyuria, Elevated circulating parathyroid hormone level, Hepatomegaly, Anemia, Hypercalciuria, P...	OMIM:239200
Anterior Segment Dysgenesis 2	Microphthalmia, Anterior segment of eye aplasia, Congenital aphakia, Aniridia	OMIM:610256
Lipodystrophy, Congenital Generalized, Type 1	Cirrhosis, Hepatomegaly, Clitoral hypertrophy, Elevated circulating hepatic transaminase concentr...	OMIM:608594
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Glycosuria, Hyperphosphatu...	OMIM:616026
Tyrosinemia, Type I	Elevated urinary delta-aminolevulinic acid, Cirrhosis, Hepatomegaly, Anemia, Enlarged kidney, Glo...	OMIM:276700
Beckwith-Wiedemann Syndrome	Enlarged kidney, Hepatomegaly, Cardiomegaly, Adrenocortical carcinoma, Renal cortical cysts, Vesi...	OMIM:130650
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Jaundice, Hepatomegaly, Polycystic kidney dysplasia, Multiple renal cysts, Hepatic cysts, Stage 5...	OMIM:613095
Baraitser-Winter Syndrome 2	Microphthalmia	OMIM:614583
Primary Sclerosing Cholangitis	Elevated circulating hepatic transaminase concentration, Cholestasis, Ascites, Acute hepatic fail...	ORPHA:171
Autosomal Recessive Polycystic Kidney Disease	Enlarged kidney, Cholestasis, Ascites, Biliary hyperplasia, Splenomegaly, Oliguria, Abnormal intr...	ORPHA:731
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hyperglycinuria, Elevated ...	OMIM:201450
Elliptocytosis 1	Elliptocytosis, Jaundice, Splenomegaly, Hemolytic anemia	OMIM:611804
Triokinase And Fmn Cyclase Deficiency Syndrome	Microphthalmia	OMIM:618805
Cryohydrocytosis	Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:185020
Lipodystrophy, Congenital Generalized, Type 2	Decreased fertility, Cirrhosis, Hepatomegaly, Clitoral hypertrophy, Elevated circulating hepatic ...	OMIM:269700
Erythrocytosis, Familial, 1	Increased circulating hemoglobin concentration, Increased red blood cell mass, Splenomegaly, Incr...	OMIM:133100
Scheie Syndrome	Mucopolysacchariduria, Hepatomegaly, Splenomegaly	ORPHA:93474
Bile Acid Synthesis Defect, Congenital, 4	Intrahepatic cholestasis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ...	OMIM:214950
Immunodeficiency 47	Normocytic anemia, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentrati...	OMIM:300972
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune...	OMIM:616100
Carnitine Palmitoyltransferase I Deficiency	Hepatomegaly, Dicarboxylic aciduria, Elevated circulating hepatic transaminase concentration, Ren...	OMIM:255120
Anterior Segment Dysgenesis 7	Buphthalmos, Microphthalmia	OMIM:269400
Interstitial Lung And Liver Disease	Cirrhosis, Hepatomegaly, Anemia, Cholestasis, Elevated circulating alanine aminotransferase conce...	OMIM:615486
17Q12 Microduplication Syndrome	Microphthalmia	ORPHA:261272
Lesch-Nyhan Syndrome	Megaloblastic anemia, Nephrolithiasis, Nephrocalcinosis, Hyperuricosuria, Testicular atrophy	OMIM:300322
Congenital Rubella Syndrome	Microphthalmia, Aplasia/Hypoplasia of the iris	ORPHA:290
Immunodeficiency With Hyper-Igm, Type 1	Cirrhosis, Hepatomegaly, Sclerosing cholangitis, Chronic hepatitis, Enlarged tonsils, Thrombocyto...	OMIM:308230
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos	ORPHA:77299
Gaucher Disease, Type I	Hepatomegaly, Anemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hypersplenism	OMIM:230800
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Hepatomegaly, Dicarboxylic aciduria, Elevated circulating hepatic transaminase concentration, Ele...	OMIM:605911
Adult-Onset Still Disease	Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concentration, L...	ORPHA:829
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Microphthalmia	OMIM:613153
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concentration, V...	OMIM:615895
Histiocytosis-Lymphadenopathy Plus Syndrome	Decreased response to growth hormone stimulation test, Hepatomegaly, Lymphadenopathy, Azoospermia...	OMIM:602782
Aarskog-Scott Syndrome	Delayed puberty, Bilateral cryptorchidism, Elevated circulating follicle stimulating hormone leve...	OMIM:305400
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia	ORPHA:2788
Primary Hepatic Neuroendocrine Carcinoma	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Biliary tract obstruction,...	ORPHA:100085
Autoimmune Hemolytic Anemia, Warm Type	Autoimmune hemolytic anemia, Jaundice, Chronic lymphatic leukemia, Splenomegaly, Abnormal urinary...	ORPHA:90033
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Buphthalmos, Microphthalmia	OMIM:212550
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Autoimmune hemolytic anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentratio...	ORPHA:331206
Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	ORPHA:2717
Acquired Generalized Lipodystrophy	Cirrhosis, Hepatomegaly, Hyperinsulinemia, Acute pancreatitis, Proteinuria, Polycystic ovaries, H...	ORPHA:79086
Campomelia, Cumming Type	Hepatomegaly, Pancreatic cysts, Multiple renal cysts, Multicystic kidney dysplasia, Abnormality o...	ORPHA:1318
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Hepatomegaly, Anemia, Erythroid hypoplasia, Hypoplasia of the thymus, Cryptorchidism, Hydronephro...	OMIM:612541
Frontonasal Dysplasia 1	Microphthalmia	OMIM:136760
Hardikar Syndrome	Decreased liver function, Elevated circulating hepatic transaminase concentration, Intrahepatic b...	OMIM:301068
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Optic nerve hypoplasia, Microphthalmia	OMIM:614833
Spondylo-Ocular Syndrome	Microphthalmia, Aplasia/Hypoplasia of the lens	ORPHA:85194
Peroxisome Biogenesis Disorder 1B	Cirrhosis, Hepatomegaly, Hyperoxaluria, Renal cyst, Hepatic fibrosis	OMIM:601539
Niemann-Pick Disease, Type C1	Sea-blue histiocytosis, Hepatomegaly, Bone-marrow foam cells, Prolonged neonatal jaundice, Spleno...	OMIM:257220
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Pancreatitis, Splenomegaly	OMIM:207750
Familial Mediterranean Fever	Hepatomegaly, Leukocytosis, Nephrotic syndrome, Neutrophilia, Splenomegaly, Peritonitis, Orchitis...	OMIM:249100
Hereditary Elliptocytosis	Jaundice, Cholelithiasis, Reticulocytosis, Poikilocytosis, Prolonged neonatal jaundice, Elliptocy...	ORPHA:288
Cerebrooculofacioskeletal Syndrome 1	Microphthalmia	OMIM:214150
Oculopalatocerebral Syndrome	Microphthalmia	OMIM:257910
Hereditary Orotic Aciduria	Oroticaciduria, Anemia, Abnormality of the ureter, Orotic acid crystalluria, Splenomegaly, Aminoa...	ORPHA:30
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Cholestatic liver disease, Cirrhosis, Hepatomegaly, Anemia, Lymphadenopathy, Accessory spleen, Mi...	OMIM:619418
Nance-Horan Syndrome	Microphthalmia	ORPHA:627
Ring Chromosome 10 Syndrome	Microphthalmia	ORPHA:1438
Seckel Syndrome 2	Microphthalmia	OMIM:606744
Familial Tumoral Calcinosis	Hepatomegaly, Nephrocalcinosis, Splenomegaly	ORPHA:53715
Bresek Syndrome	Optic nerve hypoplasia, Microphthalmia	ORPHA:85284
Neurooculocardiogenitourinary Syndrome	Microphthalmia	OMIM:618652
Autoinflammatory Disease, Systemic, With Vasculitis	Jaundice, Hepatomegaly, Anemia, Congenital hydrocele, Parotitis, Increased B cell count, Cholesta...	OMIM:620376
Glycogen Storage Disease Ia	Delayed puberty, Enlarged kidney, Hepatomegaly, Pancreatitis, Decreased glomerular filtration rat...	OMIM:232200
Meckel Syndrome, Type 5	Microphthalmia	OMIM:611561
Trisomy 13	Microphthalmia, Aplasia/Hypoplasia of the iris, Anophthalmia	ORPHA:3378
Microphthalmia, Syndromic 5	Optic nerve hypoplasia, Microphthalmia, Anophthalmia	OMIM:610125
Chronic Granulomatous Disease	Liver abscess, Mediastinal lymphadenopathy, Hepatomegaly, Splenomegaly, Abnormality of neutrophils	ORPHA:379
Subaortic Stenosis-Short Stature Syndrome	Microphthalmia	ORPHA:3191
Cerebrooculofacioskeletal Syndrome 2	Microphthalmia	OMIM:610756
Syndromic Diarrhea	Cirrhosis, Hepatomegaly, Polycystic kidney dysplasia, Hypoplasia of the thymus, Hypothyroidism, I...	ORPHA:84064
Ppoma	Intrahepatic cholestasis, Neoplasm of the pancreas, Hepatomegaly, Cholelithiasis, Increased circu...	ORPHA:97278
Bartsocas-Papas Syndrome 2	Microphthalmia	OMIM:619339
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia	OMIM:167730
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Autoimmune hemolytic anemia, Reduced red cell adenosine deaminase level, Hepatomegaly, B lymphocy...	OMIM:102700
Rodrigues Blindness	Microphthalmia	OMIM:268320
Adams-Oliver Syndrome 2	Microphthalmia	OMIM:614219
Somatostatinoma	Intrahepatic cholestasis, Hepatomegaly, Neoplasm of the pancreas, Gallbladder dysfunction, Hypoch...	ORPHA:97283
Vipoma	Neoplasm of the pancreas, Normochromic anemia, Ascites, Pituitary adenoma, Parathyroid adenoma, N...	ORPHA:97282
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Microphthalmia, Abnormally large globe	OMIM:615249
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Lymphocytosis, Bone marrow hypocellularity, Splenomegaly, A...	ORPHA:86843
Pearson Syndrome	Elevated circulating hepatic transaminase concentration, Reticulocytosis, Bone marrow hypocellula...	ORPHA:699
Grfoma	Intrahepatic cholestasis, Neoplasm of the pancreas, Hepatomegaly, Cholelithiasis, Increased circu...	ORPHA:97261
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Microphthalmia	OMIM:301108
Proteasome-Associated Autoinflammatory Syndrome 3	Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concentration, T...	OMIM:617591
Argininemia	Hepatomegaly, Portal fibrosis, Reduced erythrocyte arginase activity, Oroticaciduria, Cholestasis...	OMIM:207800
Pearson Marrow-Pancreas Syndrome	Hepatomegaly, Refractory sideroblastic anemia, Anemia, Elevated circulating hepatic transaminase ...	OMIM:557000
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Splenomegaly, Anemia, Hemophagocytosis, Pancytopenia	OMIM:618398
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Microphthalmia	OMIM:614105
Congenital Disorder Of Glycosylation, Type Iq	Microphthalmia	OMIM:612379
Gray Platelet Syndrome	Menorrhagia, Thrombocytopenia, Splenomegaly, Abnormal number of alpha granules	OMIM:139090
Hydrolethalus	Microphthalmia, Anophthalmia	ORPHA:2189
Wilson Disease	Portal fibrosis, Ascites, Acute hepatic failure, Splenomegaly, Hepatic steatosis, Jaundice, Hepat...	OMIM:277900
Monosomy 18P	Microphthalmia	ORPHA:1598
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Microphthalmia, Lens coloboma	OMIM:618914
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Microphthalmia	OMIM:152950
Primary Biliary Cholangitis	Cirrhosis, Jaundice, Hepatomegaly, Hepatocellular carcinoma, Biliary cirrhosis, Portal hypertensi...	ORPHA:186
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Microphthalmia	OMIM:300863
Temtamy Syndrome	Microphthalmia	OMIM:218340
Solitary Median Maxillary Central Incisor	Microphthalmia, Anophthalmia	OMIM:147250
Microphthalmia With Brain And Digit Anomalies	Microphthalmia, Anophthalmia	ORPHA:139471
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Delayed puberty, Hepatocellular adenoma, Enlarged kidney, Tubulointerstitial fibrosis, Chronic ne...	ORPHA:79259
Congenital Muscular Dystrophy With Cerebellar Involvement	Optic nerve hypoplasia, Microphthalmia	ORPHA:370959
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Microphthalmia	OMIM:618494
Myoclonic-Astatic Epilepsy	Microphthalmia	ORPHA:1942
Pelvis-Shoulder Dysplasia	Microphthalmia	OMIM:169550
Hyperzincemia With Functional Zinc Depletion	Hepatomegaly	OMIM:601979
Chromosome 17Q12 Duplication Syndrome	Microphthalmia	OMIM:614526
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
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Microphthalmia	ORPHA:163649
Sandestig-Stefanova Syndrome	Microphthalmia	OMIM:618804
Autoimmune Lymphoproliferative Syndrome	Lymphocytosis, Reticulocytosis, Bone marrow hypocellularity, Splenomegaly, Lymphopenia, Thyroid c...	ORPHA:3261
Moebius Syndrome	Microphthalmia	OMIM:157900
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Microphthalmia, Anophthalmia	ORPHA:77298
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Autoimmune hemolytic anemia, Hepatomegaly, Minimal change glomerulonephritis, Leukocytosis, Neutr...	OMIM:620565
Microphthalmia/Coloboma 12	Microphthalmia, Optic nerve aplasia	OMIM:120200
Stevenson-Carey Syndrome	Microphthalmia	OMIM:611961
Fanconi Anemia, Complementation Group S	Microphthalmia	OMIM:617883
Baraitser-Winter Syndrome 1	Microphthalmia	OMIM:243310
Familial Mediterranean Fever	Pancreatitis, Lymphadenopathy, Leukocytosis, Ascites, Nephrotic syndrome, Nephrocalcinosis, Acute...	ORPHA:342
Rere-Related Neurodevelopmental Syndrome	Microphthalmia	ORPHA:494344
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative bur...	OMIM:233690
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia	OMIM:305390
Otodental Syndrome	Microphthalmia, Lens coloboma	ORPHA:2791
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Optic nerve hypoplasia, Bilateral microphthalmos	OMIM:607597
Porphyria, Congenital Erythropoietic	Jaundice, Hepatomegaly, Red urine, Cholelithiasis, Thrombocytopenia, Splenomegaly, Pink urine, Re...	OMIM:263700
Microcephaly 20, Primary, Autosomal Recessive	Optic nerve hypoplasia, Microphthalmia	OMIM:617914
Gracile Bone Dysplasia	Microphthalmia, Aniridia	OMIM:602361
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Microphthalmia	ORPHA:228390
Matthew-Wood Syndrome	Microphthalmia, Anophthalmia	ORPHA:2470
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Increased mean platelet volume, Menorrhagia, Thrombocytopenia, Splenomegaly, Stomatocytosis, Hemo...	OMIM:153670
Hyperlipoproteinemia, Type Id	Hepatomegaly, Pancreatitis, Splenomegaly, Recurrent pancreatitis	OMIM:615947
Curry-Jones Syndrome	Microphthalmia	ORPHA:1553
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Microphthalmia	ORPHA:163966
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	OMIM:248450
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Microphthalmia	ORPHA:404440
Meckel Syndrome, Type 2	Microphthalmia	OMIM:603194
Fanconi Anemia, Complementation Group I	Optic nerve hypoplasia, Microphthalmia	OMIM:609053
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Premature ovarian insufficiency, Secondary amenorrhea, Hypergonadotropic hypogonadism, Primary am...	OMIM:157640
Vitreoretinochoroidopathy	Microphthalmia	OMIM:193220
Norrie Disease	Buphthalmos, Microphthalmia, Hypoplasia of the iris	OMIM:310600
Gaucher Disease, Type Iiic	Cardiomegaly, Hepatomegaly, Splenomegaly, Pancytopenia	OMIM:231005
Microphthalmia With Limb Anomalies	Microphthalmia, Anophthalmia	OMIM:206920
Garg-Mishra Progeroid Syndrome	Microphthalmia	OMIM:620601
Cystic Fibrosis	Cirrhosis, Hepatomegaly, Pancreatitis, Male infertility, Hypercalciuria, Biliary cirrhosis, Hepat...	OMIM:219700
Frontofacionasal Dysplasia	Microphthalmia	ORPHA:1791
Congenital Fibrinogen Deficiency	Microphthalmia	ORPHA:335
Microphthalmia/Coloboma 9	Microphthalmia	OMIM:615145
Nasopalpebral Lipoma-Coloboma Syndrome	Bilateral microphthalmos, Microphthalmia	ORPHA:2399
Fanconi Anemia, Complementation Group R	Microphthalmia	OMIM:617244
Trichothiodystrophy 3, Photosensitive	Microphthalmia	OMIM:616395
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Renal hypoplasia, Splenomegaly	OMIM:612918
Glucagonoma	Intrahepatic cholestasis, Neoplasm of the pancreas, Hepatomegaly, Normochromic anemia, Increased ...	ORPHA:97280
Warburg Micro Syndrome 4	Microphthalmia	OMIM:615663
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Microphthalmia	OMIM:617306
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Bilateral microphthalmos	ORPHA:369891
Heart And Brain Malformation Syndrome	Microphthalmia	OMIM:616920
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Buphthalmos, Microphthalmia	OMIM:616538
Refsum Disease	Microphthalmia	ORPHA:773
Glycogen Storage Disease Ic	Delayed puberty, Hepatomegaly, Chronic pancreatitis, Decreased glomerular filtration rate, Hematu...	OMIM:232240
Beckwith-Wiedemann Syndrome	Enlarged kidney, Ureteral duplication, Splenomegaly, Multiple renal cysts, Cardiomegaly, Abnormal...	ORPHA:116
Ectodermal Dysplasia And Immunodeficiency 2	Hepatomegaly, Aplasia of the sweat glands, Splenomegaly	OMIM:612132
Walker-Warburg Syndrome	Microphthalmia, Anophthalmia	ORPHA:899
Warburg Micro Syndrome 3	Microphthalmia	OMIM:614222
3P25.3 Microdeletion Syndrome	Microphthalmia	ORPHA:435638
Meckel Syndrome, Type 4	Microphthalmia	OMIM:611134
Fetal Alcohol Syndrome	Microphthalmia	ORPHA:1915
Granulomatous Disease, Chronic, X-Linked	Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Ascites, Splenomegaly, Impaired oxid...	OMIM:306400
Marden-Walker Syndrome	Microphthalmia	OMIM:248700
Kapur-Toriello Syndrome	Microphthalmia	ORPHA:2328
Familial Exudative Vitreoretinopathy	Microphthalmia	ORPHA:891
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Precocious puberty, Cardiomegaly, Cryptorchidism, Labial hypertrophy, Neonatal insu...	ORPHA:96191
Chronic Visceral Acid Sphingomyelinase Deficiency	Decreased liver function, Delayed puberty, Cirrhosis, Hepatomegaly, Cholelithiasis, Acute promyel...	ORPHA:77293
Reynolds Syndrome	Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cholestasis, Bil...	OMIM:613471
Hyperlipoproteinemia, Type I	Jaundice, Acute pancreatitis, Splenomegaly, Hepatosplenomegaly	OMIM:238600
Liver Disease, Severe Congenital	Elevated circulating hepatic transaminase concentration, Lymphocytosis, Ascites, Biliary hyperpla...	OMIM:619991
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Microphthalmia	OMIM:620098
Joubert Syndrome 14	Microphthalmia	OMIM:614424
Persistent Hyperplastic Primary Vitreous	Phthisis bulbi, Microphthalmia, Buphthalmos, Macular hypoplasia	ORPHA:91495
Trichothiodystrophy 4, Nonphotosensitive	Microphthalmia	OMIM:234050
Chromosome 1Q41-Q42 Deletion Syndrome	Microphthalmia	OMIM:612530
Ectodermal Dysplasia-Blindness Syndrome	Microphthalmia	ORPHA:1806
3Q29 Microduplication Syndrome	Microphthalmia, Aniridia	ORPHA:251038
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Microphthalmia	OMIM:241410
Oculofaciocardiodental Syndrome	Microphthalmia	ORPHA:2712
Basel-Vanagaite-Smirin-Yosef Syndrome	Microphthalmia	OMIM:616449
Nance-Horan Syndrome	Microphthalmia	OMIM:302350
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Phthisis bulbi, Microphthalmia, Buphthalmos	OMIM:221900
Tetraamelia-Multiple Malformations Syndrome	Microphthalmia, Septo-optic dysplasia	ORPHA:3301
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microphthalmia	OMIM:618571
Ritscher-Schinzel Syndrome 3	Microphthalmia	OMIM:619135
X-Linked Intellectual Disability, Snyder Type	Ectopic kidney, Hypospadias, Abnormality of the Leydig cells, Cryptorchidism, Testicular atrophy	ORPHA:3063
Multiple Benign Circumferential Skin Creases On Limbs	Microphthalmia	ORPHA:2505
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Microphthalmia	ORPHA:1352
Encephalocraniocutaneous Lipomatosis	Microphthalmia, Hypoplasia of the iris	OMIM:613001
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Microphthalmia	ORPHA:2728
X-Linked Dominant Chondrodysplasia Punctata	Microphthalmia	ORPHA:35173
Martsolf Syndrome 1	Microphthalmia	OMIM:212720
Micro Syndrome	Microphthalmia	ORPHA:2510
Cerebrooculofacioskeletal Syndrome 4	Bilateral microphthalmos	OMIM:610758
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Hydrometrocolpos, Hepatomegaly, Splenomegaly, Vaginal atresia, Horseshoe kidney	OMIM:617088
Warburg Micro Syndrome 2	Microphthalmia	OMIM:614225
Sarcoidosis	Decreased liver function, Increased T cell count, Nephrocalcinosis, Leukopenia, Abnormal reproduc...	ORPHA:797
Adams-Oliver Syndrome	Microphthalmia	ORPHA:974
Chromosome 13Q33-Q34 Deletion Syndrome	Microphthalmia	OMIM:619148
Johanson-Blizzard Syndrome	Clitoral hypertrophy, Primary hypothyroidism, Ascites, Urethrovaginal fistula, Splenomegaly, Sept...	OMIM:243800
Skin Creases, Congenital Symmetric Circumferential, 1	Microphthalmia	OMIM:156610
Kapur-Toriello Syndrome	Microphthalmia	OMIM:244300
Oculodentodigital Dysplasia, Autosomal Recessive	Microphthalmia	OMIM:257850
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Microphthalmia, Anophthalmia	OMIM:615877
Fructose Intolerance, Hereditary	Bicarbonaturia, Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase conc...	OMIM:229600
Steinert Myotonic Dystrophy	Decreased response to growth hormone stimulation test, Hyperinsulinemia, Elevated circulating hep...	ORPHA:273
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Buphthalmos, Microphthalmia	OMIM:613150
Trichothiodystrophy 1, Photosensitive	Microphthalmia	OMIM:601675
Frontonasal Dysplasia 2	Microphthalmia	OMIM:613451
Microcephaly-Micromelia Syndrome	Microphthalmia	OMIM:251230
Microphthalmia, Lenz Type	Microphthalmia	ORPHA:568
Xeroderma Pigmentosum, Complementation Group B	Microphthalmia	OMIM:610651
Chondrodysplasia Punctata 2, X-Linked Dominant	Microphthalmia	OMIM:302960
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Microphthalmia	OMIM:618727
Frontorhiny	Microphthalmia	ORPHA:391474
Xeroderma Pigmentosum, Complementation Group D	Microphthalmia	OMIM:278730
Oculoauricular Syndrome	Microphakia, Phthisis bulbi, Microphthalmia, Macular hypoplasia	OMIM:612109
8Q21.11 Microdeletion Syndrome	Microphthalmia	ORPHA:284160
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Microphthalmia	OMIM:253800
3Q29 Microdeletion Syndrome	Microphthalmia	ORPHA:65286
Microphthalmia, Syndromic 3	Optic nerve hypoplasia, Microphthalmia, Optic nerve aplasia, Anophthalmia	OMIM:206900
Cohen Syndrome	Microphthalmia	ORPHA:193
Joubert Syndrome 2	Microphthalmia	OMIM:608091
Chromosome 8Q21.11 Deletion Syndrome	Microphthalmia	OMIM:614230
Mosaic Trisomy 1	Microphthalmia	ORPHA:1692
Phace Association	Optic nerve hypoplasia, Microphthalmia	OMIM:606519
Mosaic Trisomy 9	Microphthalmia	ORPHA:99776
Duane-Radial Ray Syndrome	Microphthalmia, Optic disc hypoplasia	OMIM:607323
Linear Skin Defects With Multiple Congenital Anomalies 3	Microphthalmia	OMIM:300952
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Optic nerve hypoplasia, Microphthalmia	OMIM:614643
Basel-Vanagaite-Smirin-Yosef Syndrome	Microphthalmia	ORPHA:464738
Galloway-Mowat Syndrome 3	Microphthalmia	OMIM:617729
Galloway-Mowat Syndrome 1	Microphthalmia, Hypoplasia of the iris	OMIM:251300
Pseudotrisomy 13 Syndrome	Microphthalmia	OMIM:264480
Stromme Syndrome	Optic nerve hypoplasia, Microphthalmia	OMIM:243605
Fanconi Anemia, Complementation Group N	Microphthalmia	OMIM:610832
Vacterl With Hydrocephalus	Microphthalmia, Anophthalmia	ORPHA:3412
Pierson Syndrome	Microphthalmia, Hypoplasia of the ciliary body, Hypoplasia of the iris, Rieger anomaly, Macular h...	OMIM:609049
Fryns Syndrome	Microphthalmia	ORPHA:2059
Meckel Syndrome 14	Microphthalmia	OMIM:619879
Fanconi Anemia, Complementation Group F	Microphthalmia	OMIM:603467
Papillorenal Syndrome	Microphthalmia	OMIM:120330
Focal Dermal Hypoplasia	Microphthalmia, Hypoplasia of the iris	ORPHA:2092
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Optic nerve hypoplasia, Microphthalmia, Buphthalmos	OMIM:236670
Ohdo Syndrome, X-Linked	Microphthalmia	OMIM:300895
Premature Aging Syndrome, Penttinen Type	Microphthalmia	OMIM:601812
Isolated Arrhinia	Microphthalmia	ORPHA:1134
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Microphthalmia, Anophthalmia	ORPHA:2250
2Q31.1 Microdeletion Syndrome	Microphthalmia	ORPHA:251014
Blepharophimosis, Ptosis, And Epicanthus Inversus	Microphthalmia	OMIM:110100
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Hepatomegaly, Decreased proportion of CD8-positive T cells, T lymphocytopenia, Decreased proporti...	ORPHA:508533
1Q21.1 Microdeletion Syndrome	Microphthalmia	ORPHA:250989
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Microphthalmia	ORPHA:85167
Fanconi Anemia, Complementation Group E	Microphthalmia	OMIM:600901
Momo Syndrome	Bilateral microphthalmos	ORPHA:2563
Hallermann-Streiff Syndrome	Microphthalmia	OMIM:234100
Pelvis-Shoulder Dysplasia	Bilateral microphthalmos	ORPHA:2839
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Microphthalmia	ORPHA:1236
Fanconi Anemia, Complementation Group A	Microphthalmia	OMIM:227650
Alström Syndrome	Urinary incontinence, Elevated circulating hepatic transaminase concentration, Precocious puberty...	ORPHA:64
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Unilateral microphthalmos	OMIM:618874
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Microphthalmia	ORPHA:364577
Atelis Syndrome 2	Microphthalmia	OMIM:620185
Curry-Jones Syndrome	Microphthalmia	OMIM:601707
Dubowitz Syndrome	Microphthalmia, Hypoplasia of the iris	OMIM:223370
Lymphedema-Distichiasis Syndrome	Microphthalmia	OMIM:153400
Cousin Syndrome	Microphthalmia	OMIM:260660
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Microphthalmia	OMIM:608940
Incontinentia Pigmenti	Microphthalmia	ORPHA:464
Oculo-Palato-Cerebral Syndrome	Microphthalmia	ORPHA:2714
Teebi-Shaltout Syndrome	Microphthalmia	OMIM:272950
Incontinentia Pigmenti	Microphthalmia, Hypoplasia of the fovea	OMIM:308300
Trisomy 18	Microphthalmia	ORPHA:3380
Holoprosencephaly	Microphthalmia, Anophthalmia	ORPHA:2162
Jacobsen Syndrome	Microphthalmia, Macular hypoplasia	OMIM:147791
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Microphthalmia	OMIM:616300
Cat Eye Syndrome	Microphthalmia	OMIM:115470
Mycophenolate Mofetil Embryopathy	Microphthalmia	ORPHA:268249
Fanconi Anemia, Complementation Group C	Microphthalmia	OMIM:227645
Acrofrontofacionasal Dysostosis 1	Microphthalmia	OMIM:201180
Pallister-Hall Syndrome	Microphthalmia	OMIM:146510
Monosomy 9Q22.3	Microphthalmia	ORPHA:77301
Linear Nevus Sebaceus Syndrome	Microphthalmia	ORPHA:2612
Acro-Renal-Ocular Syndrome	Microphthalmia, Optic disc hypoplasia	ORPHA:959
Basal Cell Nevus Syndrome 1	Microphthalmia	OMIM:109400
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Optic nerve hypoplasia, Microphthalmia	ORPHA:508498
Histiocytoid Cardiomyopathy	Microphthalmia, Congenital aphakia	ORPHA:137675
Microgastria-Limb Reduction Defect Syndrome	Microphthalmia, Anophthalmia	ORPHA:2538
Oculodentodigital Dysplasia	Microphthalmia	OMIM:164200
Microphthalmia, Syndromic 9	Bilateral microphthalmos, Anophthalmia	OMIM:601186
Kenny-Caffey Syndrome, Type 2	Microphthalmia	OMIM:127000
Hallermann-Streiff Syndrome	Microphthalmia	ORPHA:2108
Steinfeld Syndrome	Microphthalmia	OMIM:184705
Fanconi Anemia, Complementation Group L	Microphthalmia	OMIM:614083
Rothmund-Thomson Syndrome, Type 2	Microphthalmia	OMIM:268400
Fanconi Anemia, Complementation Group D2	Microphthalmia	OMIM:227646
Mosaic Variegated Aneuploidy Syndrome	Microphthalmia	ORPHA:1052
Cockayne Syndrome B	Microphthalmia, Hypoplasia of the iris	OMIM:133540
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Microphthalmia, Anophthalmia	ORPHA:2526
Fraser Syndrome 2	Microphthalmia	OMIM:617666
Meckel Syndrome	Microphthalmia, Aplasia/Hypoplasia of the iris, Anophthalmia	ORPHA:564
Bartsocas-Papas Syndrome 1	Microphthalmia	OMIM:263650
Phace Syndrome	Optic nerve hypoplasia, Microphthalmia, Lens coloboma	ORPHA:42775
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Microphthalmia	OMIM:616975
Treacher-Collins Syndrome	Microphthalmia	ORPHA:861
Holoprosencephaly-Postaxial Polydactyly Syndrome	Microphthalmia	ORPHA:2166
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Microphthalmia	OMIM:617925
Trichothiodystrophy	Bilateral microphthalmos	ORPHA:33364
Aicardi Syndrome	Microphthalmia	ORPHA:50
Traboulsi Syndrome	Microphthalmia	OMIM:601552
Cockayne Syndrome Type 3	Microphthalmia	ORPHA:90324
Microphthalmia With Limb Anomalies	Microphthalmia, True anophthalmia	ORPHA:1106
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Microphthalmia	OMIM:620005
Oculocerebrorenal Syndrome Of Lowe	Buphthalmos, Microphthalmia	ORPHA:534
Holoprosencephaly 7	Bilateral microphthalmos, Microphthalmia	OMIM:610828
Linear Skin Defects With Multiple Congenital Anomalies 1	Microphthalmia	OMIM:309801
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Microphthalmia	OMIM:609945
Fanconi Anemia	Microphthalmia, Aplasia/Hypoplasia of the iris	ORPHA:84
Osteoporosis-Pseudoglioma Syndrome	Phthisis bulbi, Microphthalmia	OMIM:259770
Aicardi Syndrome	Microphthalmia	OMIM:304050
Mend Syndrome	Microphthalmia	ORPHA:401973
Monosomy 9P	Microphthalmia	ORPHA:261112
Microphthalmia With Linear Skin Defects Syndrome	Microphthalmia, Anophthalmia	ORPHA:2556
Myhre Syndrome	Microphthalmia	OMIM:139210
Cockayne Syndrome	Microphthalmia	ORPHA:191
22Q11.2 Deletion Syndrome	Microphthalmia	ORPHA:567
Fryns Syndrome	Microphthalmia	OMIM:229850
Bosma Arhinia Microphthalmia Syndrome	Microphthalmia	OMIM:603457
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Optic nerve hypoplasia, Bilateral microphthalmos	ORPHA:468631
Roberts Syndrome	Microphthalmia	ORPHA:3103
Microphthalmia, Syndromic 2	Phthisis bulbi, Microphthalmia, Anophthalmia	OMIM:300166
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Microphthalmia	ORPHA:3186
Proboscis Lateralis	Optic nerve hypoplasia, Microphthalmia, Anophthalmia	ORPHA:141099
Degcags Syndrome	Microphthalmia	OMIM:619488
Skin Creases, Congenital Symmetric Circumferential, 2	Microphthalmia	OMIM:616734
Holoprosencephaly 9	Optic nerve hypoplasia, Microphthalmia, Anophthalmia	OMIM:610829
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Microphthalmia	OMIM:620186
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Buphthalmos, Microphthalmia, Hypoplasia of the retina	OMIM:253280
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Microphthalmia	OMIM:608670
Monosomy 13Q14	Microphthalmia	ORPHA:1587
Meckel Syndrome, Type 1	Microphthalmia	OMIM:249000
Frontofacionasal Dysplasia	Microphthalmia	OMIM:229400
Charge Syndrome	Microphthalmia, Anophthalmia	ORPHA:138
Fontaine Progeroid Syndrome	Microphthalmia	OMIM:612289
Yunis-Varon Syndrome	Bilateral microphthalmos, Microphthalmia	ORPHA:3472
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Microphthalmia	ORPHA:306542
Focal Dermal Hypoplasia	Microphthalmia, Aniridia, Anophthalmia	OMIM:305600
Chromosome 13Q14 Deletion Syndrome	Microphthalmia	OMIM:613884
Renpenning Syndrome 1	Microphthalmia	OMIM:309500
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Microphthalmia	OMIM:612474
Tetraamelia Syndrome 1	Microphthalmia	OMIM:273395
Neuroocular Syndrome	Microphthalmia, Hypoplasia of the fovea, Lens coloboma	OMIM:619539
Adams-Oliver Syndrome 1	Microphthalmia	OMIM:100300
Fraser Syndrome	Microphthalmia, Anophthalmia	ORPHA:2052
Autosomal Dominant Kenny-Caffey Syndrome	Bilateral microphthalmos	ORPHA:93325
Neu-Laxova Syndrome 1	Microphthalmia	OMIM:256520
Witteveen-Kolk Syndrome	Microphthalmia	OMIM:613406
Charge Syndrome	Microphthalmia, Unilateral microphthalmos, Anophthalmia	OMIM:214800
Lowe Oculocerebrorenal Syndrome	Microphthalmia	OMIM:309000
Norrie Disease	Microphthalmia, Hypoplasia of the iris, Aplasia/Hypoplasia of the lens	ORPHA:649
Fraser Syndrome 1	Bilateral microphthalmos, Anophthalmia	OMIM:219000
Holoprosencephaly 1	Microphthalmia	OMIM:236100
Microphthalmia, Syndromic 6	Microphthalmia, Anophthalmia	OMIM:607932
Pallister-Hall Syndrome	Microphthalmia	ORPHA:672
8Q24.3 Microdeletion Syndrome	Optic nerve hypoplasia, Bilateral microphthalmos	ORPHA:508488
Treacher Collins Syndrome 1	Bilateral microphthalmos	OMIM:154500
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Microphthalmia, Hypoplasia of the iris	OMIM:175780
Hydrolethalus Syndrome 1	Microphthalmia	OMIM:236680
Branchiooculofacial Syndrome	Microphthalmia, Anophthalmia	OMIM:113620
Mowat-Wilson Syndrome	Microphthalmia	OMIM:235730
Holoprosencephaly 2	Microphthalmia	OMIM:157170
Townes-Brocks Syndrome	Microphthalmia	ORPHA:857
Roberts-Sc Phocomelia Syndrome	Microphthalmia	OMIM:268300
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Microphthalmia	ORPHA:261537
Mowat-Wilson Syndrome	Microphthalmia	ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Microphthalmia	ORPHA:261552
Craniofacial Microsomia 1	Microphthalmia, Anophthalmia	OMIM:164210
Microphthalmia, Syndromic 1	Microphthalmia, Anophthalmia	OMIM:309800
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Eosinophilia, Hepatic cysts, Lymphopenia	OMIM:617425

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 Extl3

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

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Extl3.

No publications found that use IMPC mice or data for Extl3.

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MGI Allele	Allele Type	Produced
Extl3^em1(IMPC)Mbp	Intra-exon deletion	Mice, Tissue

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Extl3 MGI:1860765

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

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X-ray

Human diseases caused by Extl3 mutations

Histopathology

IMPC related publications

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Access Data Release 21.0 Data