Genes Phenotypes Help, News, Blog

Please enable javascript if you want to log in to follow or stop following this gene.

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

Download data as: TSV XLS

Select physiological systems to view:

Viewing: all phenotypes

Select physiological systems to view:

Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

60 Images

View images

X-ray

XRay Images Whole Body Dorso Ventral

36 Images

View images

X-ray

XRay Images Whole Body Lateral Orientation

12 Images

View images

X-ray

XRay Images Whole Body Dorso Ventral

108 Images

View 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.

Human diseases associated with Extl3 (2 diseases)
Human diseases predicted to be associated with Extl3 (794 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, Hypereosinophilia, Horseshoe kidney, ...	ORPHA:508533
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities		Lymphopenia, Eosinophilia, Hepatic cysts	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
Fetal Cytomegalovirus Syndrome	Splenomegaly, Hepatomegaly, Anemia	ORPHA:294
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Splenomegaly, Hepatomegaly	ORPHA:2274
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Microphthalmia, Isolated, With 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	Elevated hepatic transaminase, Hepatomegaly	OMIM:606664
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
Microphthalmia, Isolated, With Coloboma 7	Microphthalmia	OMIM:614497
Gombo Syndrome	Microphthalmia	OMIM:233270
Cholestasis, Progressive Familial Intrahepatic, 11	Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated circulating a...	OMIM:619874
Microphthalmia, Isolated, With Coloboma 3	Microphthalmia	OMIM:610092
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia	OMIM:251700
Tyrosinemia Type 1	Acute hepatic failure, Hepatomegaly, Splenomegaly, Generalized aminoaciduria, Hepatocellular carc...	ORPHA:882
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Hepatomegaly	ORPHA:79281
Microphthalmia, Isolated, With Coloboma 5	Microphthalmia, Anophthalmia, Bilateral microphthalmos	OMIM:611638
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia	ORPHA:46532
Microphthalmia, Isolated, With Coloboma 10	Microphthalmia, Anophthalmia	OMIM:616428
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise...	OMIM:616217
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly, 3-Methylglutaconic aciduria	OMIM:619813
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid	OMIM:206400
Hemoglobin H Disease	Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Microphthalmia, Isolated 4	Microphthalmia	OMIM:613094
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Nanophthalmos 4	Microphthalmia	OMIM:615972
Nanophthalmos	Microphthalmia	ORPHA:35612
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia	OMIM:611038
Hypogonadism, Male	Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy	OMIM:241100
Hemochromatosis, Type 2B	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Secondary amenorrhea, Hepatic fibrosis...	OMIM:613313
Neonatal Severe Primary Hyperparathyroidism	Hepatomegaly, Abnormality of the thyroid gland, Splenomegaly, Abnormal circulating calcium-phosph...	ORPHA:417
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Hepatomegaly	OMIM:619175
Cholestasis, Progressive Familial Intrahepatic, 12	Hepatomegaly, Proteinuria, Elevated circulating aspartate aminotransferase concentration, Splenom...	OMIM:620010
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Hepatomegaly, Lymphocytosis	OMIM:606445
Hemochromatosis, Type 1	Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Ca...	OMIM:235200
Hypertriglyceridemia, Transient Infantile	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic steatosis	OMIM:614480
Congenital Disorder Of Glycosylation, Type Iir	Decreased proportion of CD4-positive T cells, Hepatomegaly, Elevated hepatic transaminase, Hyposp...	OMIM:301045
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen...	OMIM:615285
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Encephalopathy Due To Prosaposin Deficiency	Splenomegaly, Hepatomegaly	ORPHA:139406
Hemochromatosis, Type 2A	Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Azoospermia, Infertility, Cirrhosis, A...	OMIM:602390
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated circulating a...	OMIM:605911
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery...	OMIM:603902
Galactosemia Iii	Hepatomegaly, Splenomegaly, Jaundice, Aminoaciduria, Galactosuria	OMIM:230350
Spermatogenic Failure, X-Linked, 2	Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest	OMIM:309120
Galactose Epimerase Deficiency	Splenomegaly, Hepatomegaly, Jaundice, Aminoaciduria	ORPHA:79238
Hyperbilirubinemia, Shunt, Primary	Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid...	OMIM:237800
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro...	OMIM:133180
Congenital Primary Aphakia	Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia	ORPHA:83461
Immunodeficiency 104	Splenomegaly, Hepatomegaly, T lymphocytopenia, Lymphadenopathy	OMIM:608971
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:52416
Immunodeficiency 42	Splenomegaly, Hepatomegaly, Hypoplasia of the thymus	OMIM:616622
Retinitis Pigmentosa 59	Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Cryptorchidism, Micropenis	OMIM:613861
Sea-Blue Histiocyte Disease	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating...	OMIM:269600
Testicular Regression Syndrome	Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male...	ORPHA:983
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Splenomegaly, Hepatomegaly, Fetal ascites	OMIM:619462
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion	OMIM:183350
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Alaninuria, Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated c...	OMIM:615158
Amyloidosis, Familial Visceral	Hepatomegaly, Proteinuria, Splenomegaly, Cholestasis, Hematuria, Nephrotic syndrome, Nephropathy	OMIM:105200
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Azoospermia, Hypogonadism, Poikilo...	OMIM:615234
Congenital Bile Acid Synthesis Defect Type 1	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, C...	ORPHA:79301
Splenoportal Vascular Anomalies	Diabetes mellitus, Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosi...	OMIM:271500
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microphthalmia	ORPHA:2432
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis	OMIM:118830
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy	OMIM:618852
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Lymphadenopathy, Neph...	ORPHA:100024
Bilateral Striopallidodentate Calcinosis	Hepatomegaly, Abnormality of the liver, Thrombocytopenia	ORPHA:1980
Portal Hypertension, Noncirrhotic, 1	Splenomegaly, Hepatomegaly, Portal hypertension, Elevated hepatic transaminase	OMIM:617068
Cholestasis, Progressive Familial Intrahepatic, 3	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Po...	OMIM:602347
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c...	OMIM:619658
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:610293
Trimethylaminuria	Trimethylaminuria, Splenomegaly, Anemia, Neutropenia	OMIM:602079
Isolated Follicle Stimulating Hormone Deficiency	Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib...	ORPHA:52901
Hypereosinophilic Syndrome, Idiopathic	Splenomegaly, Hepatomegaly, Eosinophilia, Myeloproliferative disorder	OMIM:607685
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenome...	OMIM:616860
Isolated Splenogonadal Fusion	Abnormal penis morphology, Unilateral cryptorchidism, Bilateral cryptorchidism, Increased circula...	ORPHA:457083
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundi...	OMIM:619868
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Hepatomegaly, Ectopic kidney, Cystic renal dysplasia, Cryptorchidism	OMIM:613730
Bile Acid Synthesis Defect, Congenital, 5	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de...	OMIM:616278
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit...	ORPHA:444463
Immunodeficiency 48	Absence of CD8-positive T cells, Hepatomegaly, Splenomegaly	OMIM:269840
Congenital Disorder Of Glycosylation, Type Iio	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Copper accumulation in liver, Hepatosp...	OMIM:616828
Microphthalmia, Isolated 6	Microphthalmia	OMIM:613517
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ...	ORPHA:846
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest...	OMIM:619849
Congenital Disorder Of Glycosylation, Type Ik	Splenomegaly, Hepatomegaly, Hypogonadism	OMIM:608540
Coproporphyria, Hereditary	Hepatomegaly, Splenomegaly, Jaundice, Increased urinary porphobilinogen, Elevated urinary delta-a...	OMIM:121300
Anemia, Congenital Dyserythropoietic, Type Ii	Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis	OMIM:224100
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B...	ORPHA:1414
Cholestasis-Lymphedema Syndrome	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Neonatal cholesta...	OMIM:214900
Facial Clefting, Oblique, 1	Microphthalmia	OMIM:600251
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Hypoplasia of penis, Hypospadias, Splenomegaly, Abnormality of the ureter, Ascites, Anemia	ORPHA:1046
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis	ORPHA:66661
Foveal Hypoplasia 2	Hypoplasia of the fovea, Microphthalmia	OMIM:609218
Isolated Polycystic Liver Disease	Hepatomegaly, Polycystic liver disease, Multiple renal cysts, Abnormality of the pancreas	ORPHA:2924
Fryns Microphthalmia Syndrome	Microphthalmia, Anophthalmia	OMIM:600776
Congenital Varicella Syndrome	Microphthalmia	ORPHA:291
Microphthalmia, Isolated, With Corectopia	Microphthalmia	OMIM:156900
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:86893
Immunodeficiency 16	Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia	OMIM:615593
Familial Partial Lipodystrophy, Köbberling Type	Hepatomegaly, Diabetes mellitus, Hyperinsulinemia, Polycystic ovaries, Hepatic steatosis, Pancrea...	ORPHA:79084
Progressive Familial Intrahepatic Cholestasis	Splenomegaly, Hepatomegaly, Jaundice, Cholestasis	ORPHA:172
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Thr...	OMIM:603552
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia	ORPHA:231393
Cholesteryl Ester Storage Disease	Hepatomegaly, Adrenal calcification, Splenomegaly, Jaundice, Cirrhosis, Hepatic failure	ORPHA:75234
Alpha-1-Antitrypsin Deficiency	Hepatomegaly, Jaundice, Hepatitis, Nephrotic syndrome, Hepatic failure	ORPHA:60
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic failure, Hepatic bridging fibrosis	OMIM:616719
Dyskeratosis Congenita, Autosomal Recessive 2	Pancytopenia, Bone marrow hypocellularity, Cirrhosis, Testicular atrophy, Thrombocytopenia	OMIM:613987
Cerebrooculofacioskeletal Syndrome 3	Microphthalmia	OMIM:616570
Alpha-Heavy Chain Disease	Hepatomegaly, Splenomegaly, Lymphadenopathy, Ascites, Anemia	ORPHA:100025
Spinocerebellar Ataxia Type 32	Male infertility, Azoospermia, Testicular atrophy	ORPHA:276183
Hepatic Veno-Occlusive Disease	Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Jaundice, Ascites	ORPHA:890
Spinocerebellar Ataxia 32	Azoospermia, Testicular atrophy, Infertility	OMIM:613909
Glycogen Storage Disease Vi	Elevated hepatic transaminase, Hepatomegaly, Increased hepatic glycogen content	OMIM:232700
Mmep Syndrome	Microphthalmia	ORPHA:3434
Peroxisome Biogenesis Disorder 6A (Zellweger)	Hepatomegaly, Decreased liver function, Renal cyst	OMIM:614870
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia	OMIM:610539
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Hepatomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia...	OMIM:614470
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly...	OMIM:615559
Biliary Atresia, Extrahepatic	Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres...	OMIM:210500
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune throm...	OMIM:619375
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Portal fibrosis, Hepatic fibrosis, Cirr...	ORPHA:369
Anemia, Congenital Dyserythropoietic, Type Ib	Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund...	OMIM:615631
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio...	OMIM:308700
Beta-Thalassemia Intermedia	Extramedullary hematopoiesis, Abnormality of the liver, Elevated hepatic iron concentration, Eryt...	ORPHA:231222
Microphthalmia, Isolated 8	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia	OMIM:615113
Lipodystrophy, Congenital Generalized, Type 3	Hepatomegaly, Diabetes mellitus, Splenomegaly, Primary amenorrhea, Hepatosplenomegaly, Hepatic st...	OMIM:612526
Gray Platelet Syndrome	Splenomegaly, Thrombocytopenia, Abnormality of the menstrual cycle	ORPHA:721
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis, Intermittent jaundice	OMIM:179700
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Microphthalmia	OMIM:120433
Cyanosis, Transient Neonatal	Reticulocytosis, Hepatomegaly, Jaundice, Methemoglobinemia, Anemia	OMIM:613977
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Intrahepatic cholest...	OMIM:613812
Galactosemia I	Hemolytic anemia, Hepatomegaly, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, ...	OMIM:230400
Niemann-Pick Disease, Type B	Hepatomegaly, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly, Sea-blue histiocytosis, Anemia	OMIM:607616
Microcephaly-Microcornea Syndrome, Seemanova Type	Microphthalmia	ORPHA:2528
Beta-Thalassemia	Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Thrombocytop...	ORPHA:848
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Harderoporphyria	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Increased urine harderoporphyrin level, Splenome...	OMIM:618892
Portal Hypertension, Noncirrhotic, 2	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasi...	OMIM:619463
Combined Oxidative Phosphorylation Deficiency 34	Hepatomegaly, Pancytopenia, Hypergonadotropic hypogonadism, Elevated circulating thyroid-stimulat...	OMIM:617872
Diffuse Neonatal Hemangiomatosis	Hepatomegaly, Renal insufficiency, Abnormal vagina morphology, Anemia, Ascites, Thrombocytopenia	ORPHA:2123
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia	OMIM:614830
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Cholangiocarcinoma, Diabetes mellitus, Hypogonadotropic hypogonadism, Portal hypert...	ORPHA:465508
Aicardi-Goutieres Syndrome 6	Splenomegaly, Hemolytic anemia, Thrombocytopenia, Hepatomegaly	OMIM:615010
Immunodeficiency, Common Variable, 6	Hepatomegaly, Glomerulonephritis, Autoimmune thrombocytopenia, Stage 5 chronic kidney disease, Ma...	OMIM:613496
Xeroderma Pigmentosum, Complementation Group G	Microphthalmia	OMIM:278780
Desmoplastic Small Round Cell Tumor	Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Testicular neoplasm, Medi...	ORPHA:83469
Cholesteryl Ester Storage Disease	Acute hepatic failure, Adrenal calcification, Bone-marrow foam cells, Leukopenia, Hepatic fibrosi...	OMIM:278000
Immunodeficiency 69	Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia	OMIM:618963
Adams-Oliver Syndrome 4	Microphthalmia	OMIM:615297
Glycogen Storage Disease Ixc	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, In...	OMIM:613027
Osteopetrosis, Autosomal Dominant 3	Splenomegaly, Hepatomegaly, Hyperparathyroidism, Anemia	OMIM:618107
Alpha-1-Antitrypsin Deficiency	Elevated hepatic transaminase, Splenomegaly, Cirrhosis, Hepatocellular carcinoma	OMIM:613490
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Renal insufficiency, Pancreatic fibrosis, Malformation of the hepatic ductal plate,...	OMIM:208540
Kallmann Syndrome With Spastic Paraplegia	Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Unilateral...	OMIM:308750
Hepatitis, Fulminant Viral, Susceptibility To	Elevated hepatic transaminase, Hepatomegaly, Jaundice, Fulminant hepatitis, Type I diabetes melli...	OMIM:618549
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc...	OMIM:194380
Cystic Echinococcosis	Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Hepatic cysts, Eosin...	ORPHA:400
Kennedy Disease	Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction	ORPHA:481
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Elevated hepatic transaminase, Pancytopenia, Hepatocellular carcinoma, Th...	ORPHA:158057
Meckel Syndrome, Type 3	Hepatomegaly, Multicystic kidney dysplasia, Malformation of the hepatic ductal plate, Bile duct p...	OMIM:607361
Glycogen Storage Disease Ixb	Splenomegaly, Hepatomegaly, Increased hepatic glycogen content	OMIM:261750
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Splenomegaly, Hepatomegaly	ORPHA:2204
Craniotelencephalic Dysplasia	Microphthalmia, Optic nerve hypoplasia	OMIM:218670
Sickle Cell Disease	Hemolytic anemia, Hepatomegaly, Renal insufficiency, Cardiomegaly, Splenomegaly, Jaundice, Leukoc...	OMIM:603903
Aicardi-Goutieres Syndrome 4	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Thro...	OMIM:610333
Dietary Iron Overload Disease	Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Micronodular cirrhosi...	ORPHA:139507
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe...	OMIM:263200
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase...	OMIM:617514
Pyruvate Kinase Deficiency Of Red Cells	Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina...	OMIM:266200
Immunodeficiency 84	Splenomegaly, B lymphocytopenia	OMIM:619437
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia	OMIM:267760
Cataract 9, Multiple Types	Microphthalmia	OMIM:604219
Galactose Mutarotase Deficiency	Hepatomegaly, Decreased liver function, Cholestasis	ORPHA:570422
Dihydropyrimidine Dehydrogenase Deficiency	Microphthalmia	OMIM:274270
Immunodeficiency 54	Hepatomegaly, Splenomegaly, Adrenocorticotropic hormone excess, Lymphadenopathy, Adrenal insuffic...	OMIM:609981
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Hepatoportal Sclerosis	Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Po...	ORPHA:64743
Mulibrey Nanism	Hepatomegaly	ORPHA:2576
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel...	OMIM:601847
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Hemochromatosis, Type 4	Hepatomegaly, Diabetes mellitus, Impotence, Cirrhosis, Hepatic steatosis, Anemia	OMIM:606069
Microphthalmia, Syndromic 12	Microphthalmia, Anophthalmia	OMIM:615524
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ...	ORPHA:75564
Babesiosis	Hemolytic anemia, Hepatomegaly, Renal insufficiency, Splenomegaly, Jaundice, Leukopenia, Hepatic ...	ORPHA:108
Pfapa Syndrome	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:42642
Cholestasis, Progressive Familial Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Cirrhosis,...	OMIM:211600
Cold Agglutinin Disease	Hemolytic anemia, Abnormal urinary color, Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:56425
Fanconi Anemia, Complementation Group J	Microphthalmia	OMIM:609054
Caroli Disease	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c...	ORPHA:53035
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt...	OMIM:615513
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N...	OMIM:235700
Dubin-Johnson Syndrome	Hepatomegaly, Abnormal urinary color, Jaundice, Biliary tract abnormality, Abnormality of the liver	ORPHA:234
Heme Oxygenase 1 Deficiency	Hemolytic anemia, Hepatomegaly, Proteinuria, Elevated circulating aspartate aminotransferase conc...	OMIM:614034
Immunodeficiency 76	Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia	OMIM:619164
Follicular Lymphoma	Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:545
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatitis, Hemophagocytosis	OMIM:300635
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis	ORPHA:59303
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Microphthalmia	OMIM:610023
Biemond Syndrome Type 2	Microphthalmia	ORPHA:141333
Craniotelencephalic Dysplasia	Microphthalmia, Septo-optic dysplasia	ORPHA:1528
Fanconi Anemia, Complementation Group G	Microphthalmia	OMIM:614082
Hereditary Amyloidosis With Primary Renal Involvement	Male infertility, Hepatomegaly, Renal insufficiency, Primary testicular failure, Proteinuria, Noc...	ORPHA:85450
Bile Acid Synthesis Defect, Congenital, 1	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Splenomegaly, Jaundice, Intrah...	OMIM:607765
Microphthalmia, Syndromic 13	Microphthalmia	OMIM:300915
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia	OMIM:615771
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple...	OMIM:613470
Wolman Disease	Hepatomegaly, Adrenal calcification, Bone-marrow foam cells, Splenomegaly, Adrenal insufficiency,...	ORPHA:75233
Dehydrated Hereditary Stomatocytosis 2	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase...	OMIM:616689
Bile Acid Conjugation Defect 1	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated c...	OMIM:619232
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Abnor...	OMIM:612840
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,...	OMIM:619662
Classic Galactosemia	Male infertility, Hepatomegaly, Decreased serum insulin-like growth factor 1, Premature ovarian i...	ORPHA:79239
Schnitzler Syndrome	Hepatomegaly, Splenomegaly, Leukocytosis, Lymphadenopathy, Anemia	ORPHA:37748
Bile Acid Synthesis Defect, Congenital, 2	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, He...	OMIM:235555
Adams-Oliver Syndrome 6	Splenomegaly, Hepatic fibrosis, Renal hypoplasia, Portal hypertension	OMIM:616589
Ornithine Transcarbamylase Deficiency	Splenomegaly, Aminoaciduria, Hepatic failure	ORPHA:664
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Anemia, Hemophagocytosis, Thrombocytopenia	OMIM:613101
Fish-Eye Disease	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:79292
2Q24 Microdeletion Syndrome	Microphthalmia	ORPHA:1617
B-Cell Expansion With Nfkb And T-Cell Anergy	Splenomegaly, Increased B cell count	OMIM:616452
Indolent Systemic Mastocytosis	Hepatomegaly, Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytos...	ORPHA:98848
Cholestasis, Benign Recurrent Intrahepatic, 2	Hepatomegaly, Jaundice, Intrahepatic cholestasis, Cholelithiasis	OMIM:605479
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Microphthalmia	OMIM:616171
Microphthalmia, Syndromic 11	Microphthalmia	OMIM:614402
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A...	OMIM:601859
Joubert Syndrome 37	Decreased testicular size, Hepatomegaly, Cryptorchidism, Micropenis, Hydronephrosis	OMIM:619185
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Decreased CD4:CD8 ratio	OMIM:618495
Osteopetrosis, Autosomal Recessive 8	Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia	OMIM:615085
Glycogen Storage Disease Ixa1	Splenomegaly, Hepatomegaly, Elevated hepatic transaminase	OMIM:306000
Wilson Disease	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Abnormality of the menstrual ...	ORPHA:905
Microphthalmia, Isolated 5	Microphthalmia	OMIM:611040
Immunodeficiency, Common Variable, 2	Splenomegaly, Hepatomegaly, Follicular hyperplasia, Lymphadenopathy	OMIM:240500
X-Linked Sideroblastic Anemia	Elevated hepatic transaminase, Splenomegaly, Anemia	ORPHA:75563
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis	OMIM:182900
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Sea-Blue Histiocytosis	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia	ORPHA:158029
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Renal insufficiency, Splenomegaly, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia	ORPHA:79312
Vitamin B12-Responsive Methylmalonic Acidemia	Hepatomegaly, Renal insufficiency, Anemia	ORPHA:28
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Genital ulcers, S...	OMIM:602450
Lymphoproliferative Syndrome 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, H...	OMIM:615122
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Hepatic fibrosis, ...	OMIM:615415
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ...	ORPHA:766
Wolfram Syndrome 1	Sideroblastic anemia, Neurogenic bladder, Diabetes mellitus, Diabetes insipidus, Hydroureter, Meg...	OMIM:222300
Xk Aprosencephaly Syndrome	Microphthalmia	ORPHA:3469
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Myotonic Dystrophy 1	Hypogonadism, Cholelithiasis, Testicular atrophy	OMIM:160900
Propionic Acidemia	Hepatomegaly, Organic aciduria	ORPHA:35
Galactokinase Deficiency	Hepatomegaly, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Hyperinsulinemia, ...	ORPHA:79237
Budd-Chiari Syndrome	Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Portal hypertension, Splenome...	ORPHA:131
Transaldolase Deficiency	Hepatomegaly, Pancytopenia, Clitoral hypertrophy, Thrombocytopenia, Micronodular cirrhosis, Splen...	OMIM:606003
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Splenomegaly, Chronic kidney disease, Cholestasis, Hepatic fibrosis, Nephronophthis...	OMIM:615630
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Testicular atrophy, Decreased fertility	OMIM:313200
Isolated Biliary Atresia	Elevated hepatic transaminase, Hepatomegaly, Dark yellow urine, Atretic gallbladder, Splenomegaly...	ORPHA:30391
Cofs Syndrome	Microphthalmia	ORPHA:1466
Gaucher Disease, Type Iii	Splenomegaly, Hepatomegaly, Pancytopenia, Thrombocytopenia	OMIM:231000
Hurler-Scheie Syndrome	Splenomegaly, Hepatomegaly, Abnormality of the tonsils	ORPHA:93476
Infantile Liver Failure Syndrome 3	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole...	OMIM:618641
Macrocephaly/Autism Syndrome	Hepatomegaly, Penile freckling, Splenomegaly, Hydrocele testis, Lymphopenia	OMIM:605309
Akt2-Related Familial Partial Lipodystrophy	Hepatomegaly, Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes mel...	ORPHA:79085
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Cryptorchidism, Elevated circulat...	OMIM:615381
Lig4 Syndrome	Hepatomegaly, Pancytopenia, Hypoplasia of penis, Cryptorchidism, Leukocytosis, Lymphadenopathy, A...	ORPHA:99812
Polycystic Liver Disease 2 With Or Without Kidney Cysts	Hepatomegaly, Hepatic cysts	OMIM:617004
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count...	OMIM:612690
Immunodeficiency 27A	Splenomegaly, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Enlarged mesenteric lymph node, ...	OMIM:209950
Leishmaniasis	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Spleno...	ORPHA:507
Coach Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Unilateral renal agenesis, Abno...	OMIM:216360
Immunodeficiency 7	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut...	OMIM:615387
Immunodeficiency, Common Variable, 1	Hepatomegaly, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased propo...	OMIM:607594
Griscelli Syndrome Type 2	Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropenia	ORPHA:79477
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Microphthalmia	ORPHA:324416
Neuraminidase Deficiency	Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Proteinuria, Bone-marrow foam cel...	OMIM:256550
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B...	OMIM:607626
Autoimmune Lymphoproliferative Syndrome, Type Iia	Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A...	OMIM:603909
Aa Amyloidosis	Hepatomegaly, Proteinuria, Chronic kidney disease, Cholestasis, Nephrotic syndrome, Adrenal insuf...	ORPHA:85445
Cardiomyopathy, Familial Restrictive, 6	Hepatomegaly, Ascites, Portal vein hypoplasia	OMIM:619433
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Proteinuria, Nephrogenic diabe...	OMIM:613404
Caroli Syndrome	Elevated hepatic transaminase, Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Port...	ORPHA:480520
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Fulminant hepatitis, Lymphadenopathy, ...	OMIM:308240
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Splenomegaly, Pancreatic lymphangiectasis, Cryptorchidism, Pulmonary lymphangiectas...	ORPHA:1655
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Dysmenorrhea, Abnormal erythrocyte enzyme level, Spl...	ORPHA:264580
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Exocrine pancreatic insuff...	OMIM:612714
Pediatric Hepatocellular Carcinoma	Portal vein thrombosis, Hepatomegaly, Hepatic fibrosis, Hepatic necrosis	ORPHA:33402
Congenital Disorder Of Glycosylation, Type Ib	Hepatomegaly, Renal cyst, Proximal tubulopathy, Hepatic fibrosis, Cirrhosis, Hyperinsulinemic hyp...	OMIM:602579
Cholestasis, Benign Recurrent Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Pancreatitis, Intermittent jaundice	OMIM:243300
Thrombocythemia 1	Splenomegaly, Thrombocytosis	OMIM:187950
Pparg-Related Familial Partial Lipodystrophy	Hepatomegaly, Diabetes mellitus, Dysmenorrhea, Maternal diabetes, Splenomegaly, Insulin-resistant...	ORPHA:79083
Severe Combined Immunodeficiency, X-Linked	Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Hypoplasia of the ...	OMIM:300400
Hb Bart'S Hydrops Fetalis	Splenomegaly, Hepatomegaly, Abnormal hemoglobin, Anemia	ORPHA:163596
Cryoglobulinemic Vasculitis	Hepatomegaly, Viral hepatitis, Renal insufficiency, Proteinuria, Splenomegaly, Mediastinal lympha...	ORPHA:91138
Oculocerebrocutaneous Syndrome	Microphthalmia, Anophthalmia	OMIM:164180
Niemann-Pick Disease, Type A	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Bone-marrow foam cel...	OMIM:257200
Cat-Eye Syndrome	Microphthalmia	ORPHA:195
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomega...	ORPHA:567983
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr...	OMIM:618528
Classic Hodgkin Lymphoma	Splenomegaly, Hepatomegaly, Bone marrow hypocellularity, Lymphadenopathy	ORPHA:391
Cidec-Related Familial Partial Lipodystrophy	Hepatomegaly, Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes mel...	ORPHA:435651
Omenn Syndrome	Hepatomegaly, Eosinophilia, Splenomegaly, Leukocytosis, Thyroiditis, Lymphadenopathy, Nephrotic s...	ORPHA:39041
Triploidy	Hepatomegaly, Hypoplasia of penis, Hypospadias, Abnormality of the pancreas, Cryptorchidism, Abno...	ORPHA:3376
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr...	OMIM:251880
Bone Marrow Failure Syndrome 5	Pure red cell aplasia, Erythroid hypoplasia, Hypogonadism, Testicular atrophy, Anemia	OMIM:618165
Pierpont Syndrome	Microphthalmia	ORPHA:487825
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Lymphadenopathy, Acute leuke...	ORPHA:3226
Primary Myelofibrosis	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Thrombocytopenia, ...	ORPHA:824
Congenital Bile Acid Synthesis Defect Type 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, ...	ORPHA:79303
Overhydrated Hereditary Stomatocytosis	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase...	OMIM:185000
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone...	OMIM:301078
Osteopetrosis, Autosomal Recessive 4	Reticulocytosis, Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia	OMIM:611490
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Hepatomegaly, Splenomegaly, Hypogonadism, Decreased serum testosterone concentration, Decreased t...	OMIM:201100
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Thyroid lymphangiectasia, Splenomegaly, Pancreatic lymphangiectasis, Cryptorchidism...	OMIM:235255
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia	OMIM:604229
Autoimmune Hepatitis	Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic steatosis, Glomerulonephritis, Sp...	ORPHA:2137
Griscelli Syndrome	Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Leu...	ORPHA:381
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Splenomegaly, Hepatomegaly, Anemia	OMIM:620296
Immunodeficiency 32B	Hepatomegaly, Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burs...	OMIM:226990
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Dysmenorrhea, Splenomegaly, Irregular menstruation, ...	ORPHA:79240
Neonatal Lupus Erythematosus	Elevated hepatic transaminase, Hepatomegaly, Hemolytic anemia, Pancytopenia, Aplastic anemia, Thr...	ORPHA:398124
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Microphthalmia	ORPHA:1473
Klatskin Tumor	Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy	ORPHA:99978
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu...	OMIM:314050
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Thrombocyto...	OMIM:613011
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Splenomegaly, Hepatomegaly, Reduced renal corticomedullary differentiation	OMIM:618541
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Hepatomegaly, Proteinuria, Glomerulonephritis, Supernumerary nipple, Stage 5 chronic kidney disea...	OMIM:614376
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Microphthalmia	OMIM:251270
Pierpont Syndrome	Microphthalmia	OMIM:602342
Lipodystrophy, Familial Partial, Type 5	Hepatomegaly, Decreased adiponectin level, Decreased serum leptin, Irregular menstruation, Diabet...	OMIM:615238
Microphthalmia, Syndromic 8	Microphthalmia	OMIM:601349
Gaucher Disease Type 1	Hepatomegaly, Pancytopenia, Proteinuria, Hypersplenism, Thrombocytopenia, Splenomegaly, Hematuria...	ORPHA:77259
Congenital Pulmonary Lymphangiectasia	Splenomegaly, Hepatomegaly, Ascites	ORPHA:2414
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia	ORPHA:1135
Warburg Micro Syndrome 1	Microphthalmia	OMIM:600118
Macrophage Activation Syndrome	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Thrombocytopenia, Sp...	ORPHA:158061
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Oculoskeletodental Syndrome	Hepatomegaly, Splenomegaly, Cryptorchidism, Hypercalciuria, Mucopolysacchariduria, Hypothyroidism	OMIM:618440
Glycogen Storage Disease Xii	Normocytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Elevated circulating alanine aminotransf...	OMIM:611881
Familial Partial Lipodystrophy, Dunnigan Type	Hepatomegaly, Diabetes mellitus, Dysmenorrhea, Splenomegaly, Secondary amenorrhea, Polycystic ova...	ORPHA:2348
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Diabetes mellitus, Portal hypertension, Pancreatic cysts, Splenomegaly, Elevated ci...	OMIM:610199
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop...	OMIM:603554
Mucopolysaccharidosis, Type Iiib	Splenomegaly, Hepatomegaly, Heparan sulfate excretion in urine, Cardiomegaly	OMIM:252920
Glycogen Storage Disease Ib	Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Proteinuria, Decreased glomerul...	OMIM:232220
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, Intermitte...	OMIM:150550
Combined Oxidative Phosphorylation Deficiency 19	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat...	OMIM:615595
Meckel Syndrome, Type 8	Microphthalmia, Anophthalmia	OMIM:613885
Carnitine Palmitoyltransferase I Deficiency	Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating aspartat...	OMIM:255120
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Hydrocele testis, Hepatomegaly, Micropenis	OMIM:618810
Beta-Thalassemia Major	Extramedullary hematopoiesis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism, Hepatomegaly,...	ORPHA:231214
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Anisocytosis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism,...	ORPHA:231226
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Microphthalmia	ORPHA:48431
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Microphthalmia	OMIM:601794
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Microphthalmia, Optic nerve hypoplasia	OMIM:615181
Congenital Generalized Lipodystrophy	Hepatomegaly, Overgrowth of external genitalia, Diabetes mellitus, Precocious puberty in females,...	ORPHA:528
Fanconi-Bickel Syndrome	Hepatomegaly, Hyperphosphaturia, Diabetes mellitus, Elevated circulating aspartate aminotransfera...	ORPHA:2088
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Hepatomegaly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, S...	OMIM:224120
Peroxisome Biogenesis Disorder 2A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Cryptorchidism, Jaundice, Aminoaciduria, Hypoplasi...	OMIM:214110
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Systemic-Onset Juvenile Idiopathic Arthritis	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:85414
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:612653
Congenital Toxoplasmosis	Microphthalmia	ORPHA:858
Gamma-Heavy Chain Disease	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto...	ORPHA:100026
Lissencephaly 8	Microphthalmia	OMIM:617255
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Microphthalmia	OMIM:613155
Lipe-Related Familial Partial Lipodystrophy	Hepatomegaly, Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes mel...	ORPHA:435660
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc...	ORPHA:3202
Liver Failure, Infantile, Transient	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, 3-hydroxydicarboxylic aciduri...	OMIM:613070
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia	ORPHA:363741
Developmental Delay With Variable Neurologic And Brain Abnormalities	Microphthalmia	OMIM:619694
Temtamy Syndrome	Microphthalmia	ORPHA:1777
Mpi-Cdg	Hepatomegaly, Portal hypertension, Hepatic fibrosis, Decreased liver function, Hyperinsulinemic h...	ORPHA:79319
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Spherocytosis, Hyperinsulinemia	ORPHA:66518
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Hemoglobinuria, Poikilocytos...	OMIM:300908
Braddock-Carey Syndrome 2	Microphthalmia	OMIM:619981
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Oculogastrointestinal Neurodevelopmental Syndrome	Bilateral microphthalmos, Unilateral microphthalmos	OMIM:619318
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Portal hype...	ORPHA:79124
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:616649
Autosomal Dominant Keratitis	Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A...	ORPHA:2334
Kaposiform Lymphangiomatosis	Metrorrhagia, Pancreatic cysts, Splenomegaly, Abnormality of the lymphatic system, Hepatosplenome...	ORPHA:464329
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Microphthalmia	OMIM:602501
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Lymphadenitis, Splenomegaly, Recurrent tonsillitis, Lymphad...	OMIM:618935
Joubert Syndrome 22	Microphthalmia	OMIM:615665
Adult-Onset Still Disease	Elevated hepatic transaminase, Hepatomegaly, Neutrophilia, Generalized lymphadenopathy, Splenomeg...	ORPHA:829
Hartsfield Syndrome	Microphthalmia	ORPHA:2117
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Hepatomegaly, Ketonuria, Renal hypoplasia	OMIM:619053
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Testicular atrophy	OMIM:601163
Cog5-Cdg	Elevated hepatic transaminase, Hepatomegaly, Neurogenic bladder, Urinary incontinence, Cryptorchi...	ORPHA:263487
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Hereditary Spherocytosis	Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Spleno...	ORPHA:822
Developmental And Epileptic Encephalopathy 1	Microphthalmia	OMIM:308350
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia	OMIM:617441
8P11.2 Deletion Syndrome	Hemolytic anemia, Hypoplasia of penis, Hypogonadotropic hypogonadism, Splenomegaly, Cryptorchidis...	ORPHA:251066
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microphthalmia	ORPHA:231736
Acrocephalopolydactylous Dysplasia	Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Polysplenia, Ascites, Cystic renal dysplasia...	OMIM:200995
Linear Skin Defects With Multiple Congenital Anomalies 2	Microphthalmia	OMIM:300887
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Microphthalmia	ORPHA:2547
Proteasome-Associated Autoinflammatory Syndrome 4	Splenomegaly, Hepatomegaly, Autoimmune hemolytic anemia, Lymphadenopathy	OMIM:619183
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Elevated hepatic transaminase, Hepatomegaly, Hyperglycinuria, Medium chain dicarboxylic aciduria,...	OMIM:201450
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Splenomegaly, Pancytopenia	OMIM:614979
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatomegaly, Ketonuria, Elevated circulating alanine aminotransferase concentration, Increased h...	OMIM:261680
Familial Hemophagocytic Lymphohistiocytosis	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Cho...	ORPHA:540
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Microphthalmia	ORPHA:93267
Wolcott-Rallison Syndrome	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Renal insufficiency, Neonatal...	ORPHA:1667
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma...	ORPHA:288
Anterior Segment Dysgenesis 2	Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia	OMIM:610256
Cornea Plana 2, Autosomal Recessive	Microphthalmia	OMIM:217300
Elliptocytosis 1	Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis	OMIM:611804
Hyperparathyroidism, Neonatal Severe	Hepatomegaly, Hyperphosphaturia, Polyuria, Splenomegaly, Primary hyperparathyroidism, Hypercalciu...	OMIM:239200
Tyrosinemia, Type I	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Renal insufficiency, Splenome...	OMIM:276700
Frontonasal Dysplasia 3	Microphthalmia	OMIM:613456
Testicular Agenesis	Decreased serum testosterone concentration, Abnormal vas deferens morphology, Urethrovaginal fist...	ORPHA:325124
Joubert Syndrome With Hepatic Defect	Elevated hepatic transaminase, Hepatomegaly, Multicystic kidney dysplasia, Renal insufficiency, P...	ORPHA:1454
Drug-Induced Autoimmune Hemolytic Anemia	Splenomegaly, Autoimmune hemolytic anemia, Abnormal urinary color	ORPHA:90037
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Jaundice, Stage 5 chronic kidney disease, Multiple renal cysts...	OMIM:613095
Bile Acid Synthesis Defect, Congenital, 4	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Elevated circulating aspartate...	OMIM:214950
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H...	ORPHA:731
Triokinase And Fmn Cyclase Deficiency Syndrome	Microphthalmia	OMIM:618805
Lesch-Nyhan Syndrome	Megaloblastic anemia, Nephrolithiasis, Hyperuricosuria, Nephrocalcinosis, Testicular atrophy	OMIM:300322
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Elevated hepatic transaminase, Hepatomegaly, Hyperphosphaturia, Diabetes mellitus, Proteinuria, N...	OMIM:616026
Baraitser-Winter Syndrome 2	Microphthalmia	OMIM:614583
Immunodeficiency 47	Normocytic anemia, Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Elevated circul...	OMIM:300972
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenop...	OMIM:616100
Erythrocytosis, Familial, 1	Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin	OMIM:133100
Anterior Segment Dysgenesis 7	Buphthalmos, Microphthalmia	OMIM:269400
Immunodeficiency With Hyper-Igm, Type 1	Hepatomegaly, Hemolytic anemia, Absence of lymph node germinal center, Splenomegaly, Enlarged ton...	OMIM:308230
Primary Sclerosing Cholangitis	Acute hepatic failure, Abnormal eosinophil morphology, Hepatic fibrosis, Neoplasm of the gallblad...	ORPHA:171
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatomegaly, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation te...	OMIM:602782
17Q12 Microduplication Syndrome	Microphthalmia	ORPHA:261272
Congenital Rubella Syndrome	Aplasia/Hypoplasia of the iris, Microphthalmia	ORPHA:290
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos	ORPHA:77299
Gaucher Disease, Type I	Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia	OMIM:230800
Lipodystrophy, Congenital Generalized, Type 1	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Decreased ser...	OMIM:608594
Scheie Syndrome	Splenomegaly, Hepatomegaly, Mucopolysacchariduria	ORPHA:93474
Beckwith-Wiedemann Syndrome	Hepatomegaly, Overgrowth of external genitalia, Adrenocortical cytomegaly, Cardiomegaly, Cryptorc...	OMIM:130650
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Microphthalmia, Optic nerve hypoplasia	OMIM:614833
Seckel Syndrome 2	Microphthalmia	OMIM:606744
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Elevated hepatic transaminase, Hepatomegaly, Lymphadenitis, Leukocytosis, Splenomegaly, Cholestas...	OMIM:615895
Aarskog-Scott Syndrome	Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Elevate...	OMIM:305400
Autoimmune Hemolytic Anemia, Warm Type	Abnormal urinary color, Autoimmune hemolytic anemia, Splenomegaly, Jaundice, Chronic lymphatic le...	ORPHA:90033
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Elevated hepatic transaminase, Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoim...	ORPHA:331206
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Microphthalmia	OMIM:613153
Interstitial Lung And Liver Disease	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hypothyroidism, Elev...	OMIM:615486
Lipodystrophy, Congenital Generalized, Type 2	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Elevated hemoglobin A1c, Decreas...	OMIM:269700
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Buphthalmos, Microphthalmia	OMIM:212550
Idiopathic Uveal Effusion Syndrome	Microphthalmia	ORPHA:209956
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia	ORPHA:2788
Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	ORPHA:2717
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vesicoureteral reflux, Bladder exstr...	OMIM:301068
Familial Mediterranean Fever	Hepatomegaly, Neutrophilia, Orchitis, Splenomegaly, Leukocytosis, Peritonitis, Stage 5 chronic ki...	OMIM:249100
Wilson Disease	Acute hepatic failure, Aminoaciduria, Hepatic steatosis, Hypoparathyroidism, Hepatomegaly, Hemoly...	OMIM:277900
Frontonasal Dysplasia 1	Microphthalmia	OMIM:136760
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Microvesicular hepatic steatosis, Splenomegaly, Macronodular cirr...	OMIM:619418
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Hepatomegaly, Intermittent thrombocytopenia, Erythroid hypoplasia, Thrombocytopenia, Splenomegaly...	OMIM:612541
Niemann-Pick Disease, Type C1	Hepatomegaly, Fatal liver failure in infancy, Fetal ascites, Bone-marrow foam cells, Splenomegaly...	OMIM:257220
Apolipoprotein C-Ii Deficiency	Splenomegaly, Hepatomegaly, Pancreatitis	OMIM:207750
Spondylo-Ocular Syndrome	Microphthalmia, Aplasia/Hypoplasia of the lens	ORPHA:85194
Hereditary Orotic Aciduria	Orotic acid crystalluria, Splenomegaly, Abnormality of the ureter, Aminoaciduria, Oroticaciduria,...	ORPHA:30
Cerebrooculofacioskeletal Syndrome 1	Microphthalmia	OMIM:214150
Oculopalatocerebral Syndrome	Microphthalmia	OMIM:257910
Nance-Horan Syndrome	Microphthalmia	ORPHA:627
Familial Tumoral Calcinosis	Splenomegaly, Hepatomegaly, Nephrocalcinosis	ORPHA:53715
Bresek Syndrome	Microphthalmia, Optic nerve hypoplasia	ORPHA:85284
Ring Chromosome 10 Syndrome	Microphthalmia	ORPHA:1438
Acquired Generalized Lipodystrophy	Hepatomegaly, Acute pancreatitis, Proteinuria, Insulin-resistant diabetes mellitus, Hyperinsuline...	ORPHA:79086
Peroxisome Biogenesis Disorder 1B	Hepatomegaly, Hyperoxaluria, Renal cyst, Hepatic fibrosis, Cirrhosis	OMIM:601539
Meckel Syndrome, Type 5	Microphthalmia	OMIM:611561
Bartsocas-Papas Syndrome 2	Microphthalmia	OMIM:619339
Trisomy 13	Aplasia/Hypoplasia of the iris, Microphthalmia, Anophthalmia	ORPHA:3378
Glycogen Storage Disease Ia	Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Hepatocellular carcinoma, Decreased glo...	OMIM:232200
Microphthalmia, Syndromic 5	Microphthalmia, Anophthalmia, Optic nerve hypoplasia	OMIM:610125
Neurooculocardiogenitourinary Syndrome	Microphthalmia	OMIM:618652
Subaortic Stenosis-Short Stature Syndrome	Microphthalmia	ORPHA:3191
Cerebrooculofacioskeletal Syndrome 2	Microphthalmia	OMIM:610756
Syndromic Diarrhea	Hepatomegaly, Increased mean platelet volume, Splenomegaly, Renal hypoplasia, Abnormality of the ...	ORPHA:84064
Chronic Granulomatous Disease	Hepatomegaly, Liver abscess, Abnormality of neutrophils, Splenomegaly, Mediastinal lymphadenopathy	ORPHA:379
Rodrigues Blindness	Microphthalmia	OMIM:268320
Gray Platelet Syndrome	Splenomegaly, Thrombocytopenia, Menorrhagia, Abnormal number of alpha granules	OMIM:139090
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia	OMIM:167730
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, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy...	ORPHA:86843
Ppoma	Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Abnorm...	ORPHA:97278
Adams-Oliver Syndrome 2	Microphthalmia	OMIM:614219
Familial Mediterranean Fever	Acute hepatic failure, Proteinuria, Orchitis, Splenomegaly, Peritonitis, Lymphadenopathy, Nephroc...	ORPHA:342
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Microphthalmia	OMIM:614105
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Adrenal cortical sclerosis, Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia, ...	OMIM:102700
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Lymphadenopathy, Anemia, Lymphopenia, ...	OMIM:617591
Myelofibrosis	Splenomegaly, Myeloproliferative disorder	OMIM:254450
Congenital Disorder Of Glycosylation, Type Iq	Microphthalmia	OMIM:612379
Pearson Syndrome	Decreased response to growth hormone stimulation test, Renal cyst, Abnormality of the liver, Neut...	ORPHA:699
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Splenomegaly, Pancytopenia, Hemophagocytosis, Anemia	OMIM:618398
Pearson Marrow-Pancreas Syndrome	Elevated hepatic transaminase, Hepatomegaly, Sideroblastic anemia, Pancytopenia, Pancreatic fibro...	OMIM:557000
Hydrolethalus	Microphthalmia, Anophthalmia	ORPHA:2189
Autoimmune Lymphoproliferative Syndrome	Thyroid carcinoma, Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD...	ORPHA:3261
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Microphthalmia	OMIM:152950
Somatostatinoma	Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Elevated circulating growth hormone co...	ORPHA:97283
Argininemia	Hepatomegaly, Micronodular cirrhosis, Cholestasis, Diaminoaciduria, Portal fibrosis, Oroticaciduria	OMIM:207800
Solitary Median Maxillary Central Incisor	Microphthalmia, Anophthalmia	OMIM:147250
Monosomy 18P	Microphthalmia	ORPHA:1598
Grfoma	Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Neopla...	ORPHA:97261
Microphthalmia With Brain And Digit Anomalies	Microphthalmia, Anophthalmia	ORPHA:139471
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Microphthalmia	OMIM:300863
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Microphthalmia, Lens coloboma	OMIM:618914
Hyperzincemia With Functional Zinc Depletion	Hepatomegaly	OMIM:601979
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur...	OMIM:233710
Temtamy Syndrome	Microphthalmia	OMIM:218340
Congenital Muscular Dystrophy With Cerebellar Involvement	Microphthalmia, Optic nerve hypoplasia	ORPHA:370959
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Microphthalmia	ORPHA:163649
Myoclonic-Astatic Epilepsy	Microphthalmia	ORPHA:1942
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Microphthalmia	OMIM:618494
Pelvis-Shoulder Dysplasia	Microphthalmia	OMIM:169550
Sandestig-Stefanova Syndrome	Microphthalmia	OMIM:618804
Vipoma	Hepatomegaly, Follicular thyroid carcinoma, Intermittent jaundice, Neoplasm of the liver, Increas...	ORPHA:97282
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Microphthalmia, Anophthalmia	ORPHA:77298
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Nephrocalcinosis, Hypothyroidism, Hepatic steatosis, Tubulointerstitial fibrosis, Hepatomegaly, D...	ORPHA:79259
Moebius Syndrome	Microphthalmia	OMIM:157900
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur...	OMIM:233690
Coloboma, Ocular, Autosomal Dominant	Microphthalmia, Optic nerve aplasia	OMIM:120200
Fanconi Anemia, Complementation Group S	Microphthalmia	OMIM:617883
Chromosome 17Q12 Duplication Syndrome	Microphthalmia	OMIM:614526
Stevenson-Carey Syndrome	Microphthalmia	OMIM:611961
Baraitser-Winter Syndrome 1	Microphthalmia	OMIM:243310
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia	OMIM:305390
Rere-Related Neurodevelopmental Syndrome	Microphthalmia	ORPHA:494344
Otodental Syndrome	Microphthalmia, Lens coloboma	ORPHA:2791
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Bilateral microphthalmos, Optic nerve hypoplasia	OMIM:607597
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	OMIM:248450
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Increased mean platelet volume, Splenomegaly, Stomatocytosis, Menorrhagia, Thro...	OMIM:153670
Microcephaly 20, Primary, Autosomal Recessive	Microphthalmia, Optic nerve hypoplasia	OMIM:617914
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Microphthalmia	ORPHA:228390
Gracile Bone Dysplasia	Aniridia, Microphthalmia	OMIM:602361
Hyperlipoproteinemia, Type Id	Splenomegaly, Hepatomegaly, Recurrent pancreatitis, Pancreatitis	OMIM:615947
Matthew-Wood Syndrome	Microphthalmia, Anophthalmia	ORPHA:2470
Porphyria, Congenital Erythropoietic	Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Red urine, Cholelithiasis, Pink urine, Th...	OMIM:263700
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Microphthalmia	ORPHA:163966
Gaucher Disease, Type Iiic	Splenomegaly, Hepatomegaly, Pancytopenia, Cardiomegaly	OMIM:231005
Meckel Syndrome, Type 2	Microphthalmia	OMIM:603194
Fanconi Anemia, Complementation Group I	Microphthalmia, Optic nerve hypoplasia	OMIM:609053
Norrie Disease	Hypoplasia of the iris, Microphthalmia, Buphthalmos	OMIM:310600
Curry-Jones Syndrome	Microphthalmia	ORPHA:1553
Vitreoretinochoroidopathy	Microphthalmia	OMIM:193220
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Microphthalmia	ORPHA:404440
Microphthalmia With Limb Anomalies	Microphthalmia, Anophthalmia	OMIM:206920
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am...	OMIM:157640
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia, Bilateral microphthalmos	ORPHA:2399
Microphthalmia, Isolated, With Coloboma 9	Microphthalmia	OMIM:615145
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Splenomegaly, Renal hypoplasia	OMIM:612918
Frontofacionasal Dysplasia	Microphthalmia	ORPHA:1791
Congenital Fibrinogen Deficiency	Microphthalmia	ORPHA:335
Trichothiodystrophy 3, Photosensitive	Microphthalmia	OMIM:616395
Warburg Micro Syndrome 4	Microphthalmia	OMIM:615663
Hyperlipoproteinemia, Type I	Splenomegaly, Jaundice, Pancreatitis, Hepatosplenomegaly	OMIM:238600
Fanconi Anemia, Complementation Group R	Microphthalmia	OMIM:617244
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Microphthalmia	OMIM:617306
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
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Bilateral microphthalmos	ORPHA:369891
Glucagonoma	Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Elevated circulating growth hormone co...	ORPHA:97280
Cystic Fibrosis	Male infertility, Hepatomegaly, Biliary cirrhosis, Hypercalciuria, Hepatosplenomegaly, Cirrhosis,...	OMIM:219700
3P25.3 Microdeletion Syndrome	Microphthalmia	ORPHA:435638
Warburg Micro Syndrome 3	Microphthalmia	OMIM:614222
Meckel Syndrome, Type 4	Microphthalmia	OMIM:611134
Marden-Walker Syndrome	Microphthalmia	OMIM:248700
Fetal Alcohol Syndrome	Microphthalmia	ORPHA:1915
Walker-Warburg Syndrome	Microphthalmia, Anophthalmia	ORPHA:899
Beckwith-Wiedemann Syndrome	Ureteral duplication, Cardiomegaly, Vesicoureteral reflux, Hepatoblastoma, Nephropathy, Hypothyro...	ORPHA:116
Kapur-Toriello Syndrome	Microphthalmia	ORPHA:2328
Granulomatous Disease, Chronic, X-Linked	Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur...	OMIM:306400
Glycogen Storage Disease Ic	Hepatomegaly, Renal insufficiency, Proteinuria, Cyclic neutropenia, Chronic pancreatitis, Hematur...	OMIM:232240
Familial Exudative Vitreoretinopathy	Microphthalmia	ORPHA:891
Chronic Visceral Acid Sphingomyelinase Deficiency	Hepatomegaly, Decreased serum insulin-like growth factor 1, Autoimmune thrombocytopenia, Hyperspl...	ORPHA:77293
Ectodermal Dysplasia And Immunodeficiency 2	Splenomegaly, Hepatomegaly, Aplasia of the sweat glands	OMIM:612132
Joubert Syndrome 14	Microphthalmia	OMIM:614424
Trichothiodystrophy 4, Nonphotosensitive	Microphthalmia	OMIM:234050
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Microphthalmia	OMIM:620098
Ectodermal Dysplasia-Blindness Syndrome	Microphthalmia	ORPHA:1806
Reynolds Syndrome	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary cirrhosis, Cholestas...	OMIM:613471
X-Linked Intellectual Disability, Snyder Type	Hypospadias, Ectopic kidney, Cryptorchidism, Abnormality of the Leydig cells, Testicular atrophy	ORPHA:3063
Chromosome 1Q41-Q42 Deletion Syndrome	Microphthalmia	OMIM:612530
Oculofaciocardiodental Syndrome	Microphthalmia	ORPHA:2712
3Q29 Microduplication Syndrome	Aniridia, Microphthalmia	ORPHA:251038
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Microphthalmia	OMIM:241410
Persistent Hyperplastic Primary Vitreous	Buphthalmos, Microphthalmia, Phthisis bulbi, Macular hypoplasia	ORPHA:91495
Tetraamelia-Multiple Malformations Syndrome	Microphthalmia, Septo-optic dysplasia	ORPHA:3301
Basel-Vanagaite-Smirin-Yosef Syndrome	Microphthalmia	OMIM:616449
Nance-Horan Syndrome	Microphthalmia	OMIM:302350
Ritscher-Schinzel Syndrome 3	Microphthalmia	OMIM:619135
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microphthalmia	OMIM:618571
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Buphthalmos, Microphthalmia, Phthisis bulbi	OMIM:221900
Multiple Benign Circumferential Skin Creases On Limbs	Microphthalmia	ORPHA:2505
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Microphthalmia	ORPHA:2728
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Microphthalmia	ORPHA:1352
X-Linked Dominant Chondrodysplasia Punctata	Microphthalmia	ORPHA:35173
Encephalocraniocutaneous Lipomatosis	Hypoplasia of the iris, Microphthalmia	OMIM:613001
Micro Syndrome	Microphthalmia	ORPHA:2510
Cerebrooculofacioskeletal Syndrome 4	Bilateral microphthalmos	OMIM:610758
Martsolf Syndrome 1	Microphthalmia	OMIM:212720
Warburg Micro Syndrome 2	Microphthalmia	OMIM:614225
Adams-Oliver Syndrome	Microphthalmia	ORPHA:974
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Hepatomegaly, Splenomegaly, Hydrometrocolpos, Horseshoe kidney, Vaginal atresia	OMIM:617088
Chromosome 13Q33-Q34 Deletion Syndrome	Microphthalmia	OMIM:619148
Fructose Intolerance, Hereditary	Elevated hepatic transaminase, Hepatomegaly, Transient aminoaciduria, Hyperphosphaturia, Jaundice...	OMIM:229600
Kapur-Toriello Syndrome	Microphthalmia	OMIM:244300
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Microphthalmia, Anophthalmia	OMIM:615877
Skin Creases, Congenital Symmetric Circumferential, 1	Microphthalmia	OMIM:156610
Oculodentodigital Dysplasia, Autosomal Recessive	Microphthalmia	OMIM:257850
Steinert Myotonic Dystrophy	Elevated hepatic transaminase, Endometrial carcinoma, Diabetes mellitus, Hypergonadotropic hypogo...	ORPHA:273
Johanson-Blizzard Syndrome	Hepatic fibrosis, Micropenis, Hypothyroidism, Hepatomegaly, Hypospadias, Elevated circulating asp...	OMIM:243800
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
Chondrodysplasia Punctata 2, X-Linked Dominant	Microphthalmia	OMIM:302960
Microcephaly-Micromelia Syndrome	Microphthalmia	OMIM:251230
Frontorhiny	Microphthalmia	ORPHA:391474
Microphthalmia, Lenz Type	Microphthalmia	ORPHA:568
Xeroderma Pigmentosum, Complementation Group D	Microphthalmia	OMIM:278730
Xeroderma Pigmentosum, Complementation Group B	Microphthalmia	OMIM:610651
8Q21.11 Microdeletion Syndrome	Microphthalmia	ORPHA:284160
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Microphthalmia	OMIM:618727
3Q29 Microdeletion Syndrome	Microphthalmia	ORPHA:65286
Microphthalmia, Syndromic 3	Microphthalmia, Optic nerve aplasia, Anophthalmia, Optic nerve hypoplasia	OMIM:206900
Chromosome 8Q21.11 Deletion Syndrome	Microphthalmia	OMIM:614230
Mosaic Trisomy 1	Microphthalmia	ORPHA:1692
Cohen Syndrome	Microphthalmia	ORPHA:193
Phace Association	Microphthalmia, Optic nerve hypoplasia	OMIM:606519
Oculoauricular Syndrome	Microphthalmia, Phthisis bulbi, Macular hypoplasia, Microphakia	OMIM:612109
Mosaic Trisomy 9	Microphthalmia	ORPHA:99776
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Microphthalmia	OMIM:253800
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	Microphthalmia, Optic nerve hypoplasia	OMIM:614643
Blepharophimosis, Ptosis, And Epicanthus Inversus	Microphthalmia	OMIM:110100
Joubert Syndrome 2	Microphthalmia	OMIM:608091
Pseudotrisomy 13 Syndrome	Microphthalmia	OMIM:264480
Galloway-Mowat Syndrome 1	Hypoplasia of the iris, Microphthalmia	OMIM:251300
Stromme Syndrome	Microphthalmia, Optic nerve hypoplasia	OMIM:243605
Basel-Vanagaite-Smirin-Yosef Syndrome	Microphthalmia	ORPHA:464738
Galloway-Mowat Syndrome 3	Microphthalmia	OMIM:617729
Vacterl With Hydrocephalus	Microphthalmia, Anophthalmia	ORPHA:3412
Pierson Syndrome	Rieger anomaly, Hypoplasia of the ciliary body, Hypoplasia of the iris, Macular hypoplasia, Micro...	OMIM:609049
Papillorenal Syndrome	Microphthalmia	OMIM:120330
Fryns Syndrome	Microphthalmia	ORPHA:2059
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Buphthalmos, Microphthalmia, Optic nerve hypoplasia	OMIM:236670
Meckel Syndrome 14	Microphthalmia	OMIM:619879
Fanconi Anemia, Complementation Group F	Microphthalmia	OMIM:603467
Isolated Arrhinia	Microphthalmia	ORPHA:1134
Focal Dermal Hypoplasia	Hypoplasia of the iris, Microphthalmia	ORPHA:2092
Ohdo Syndrome, X-Linked	Microphthalmia	OMIM:300895
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Microphthalmia, Anophthalmia	ORPHA:2250
Premature Aging Syndrome, Penttinen Type	Microphthalmia	OMIM:601812
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Hepatomegaly, Decreased proportion of CD8-positive T cells, Hypereosinophilia, Horseshoe kidney, ...	ORPHA:508533
2Q31.1 Microdeletion Syndrome	Microphthalmia	ORPHA:251014
Fanconi Anemia, Complementation Group E	Microphthalmia	OMIM:600901
1Q21.1 Microdeletion Syndrome	Microphthalmia	ORPHA:250989
Momo Syndrome	Bilateral microphthalmos	ORPHA:2563
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Microphthalmia	ORPHA:85167
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Microphthalmia	ORPHA:1236
Pelvis-Shoulder Dysplasia	Bilateral microphthalmos	ORPHA:2839
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Unilateral microphthalmos	OMIM:618874
Fanconi Anemia, Complementation Group A	Microphthalmia	OMIM:227650
Hallermann-Streiff Syndrome	Microphthalmia	OMIM:234100
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Microphthalmia	ORPHA:364577
Atelis Syndrome 2	Microphthalmia	OMIM:620185
Curry-Jones Syndrome	Microphthalmia	OMIM:601707
Lymphedema-Distichiasis Syndrome	Microphthalmia	OMIM:153400
Cousin Syndrome	Microphthalmia	OMIM:260660
Teebi-Shaltout Syndrome	Microphthalmia	OMIM:272950
Incontinentia Pigmenti	Hypoplasia of the fovea, Microphthalmia	OMIM:308300
Trisomy 18	Microphthalmia	ORPHA:3380
Dubowitz Syndrome	Hypoplasia of the iris, Microphthalmia	OMIM:223370
Holoprosencephaly	Microphthalmia, Anophthalmia	ORPHA:2162
Jacobsen Syndrome	Microphthalmia, Macular hypoplasia	OMIM:147791
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Microphthalmia	OMIM:616300
Oculo-Palato-Cerebral Syndrome	Microphthalmia	ORPHA:2714
Incontinentia Pigmenti	Microphthalmia	ORPHA:464
Mycophenolate Mofetil Embryopathy	Microphthalmia	ORPHA:268249
Cat Eye Syndrome	Microphthalmia	OMIM:115470
Alström Syndrome	Decreased response to growth hormone stimulation test, Urinary incontinence, Elevated circulating...	ORPHA:64
Pallister-Hall Syndrome	Microphthalmia	OMIM:146510
Fanconi Anemia, Complementation Group C	Microphthalmia	OMIM:227645
Linear Nevus Sebaceus Syndrome	Microphthalmia	ORPHA:2612
Monosomy 9Q22.3	Microphthalmia	ORPHA:77301
Acro-Renal-Ocular Syndrome	Microphthalmia, Optic disc hypoplasia	ORPHA:959
Acrofrontofacionasal Dysostosis 1	Microphthalmia	OMIM:201180
Steinfeld Syndrome	Microphthalmia	OMIM:184705
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Microphthalmia, Optic nerve hypoplasia	ORPHA:508498
Basal Cell Nevus Syndrome 1	Microphthalmia	OMIM:109400
Histiocytoid Cardiomyopathy	Microphthalmia, Congenital aphakia	ORPHA:137675
Microphthalmia, Syndromic 9	Anophthalmia, Bilateral microphthalmos	OMIM:601186
Holoprosencephaly 9	Microphthalmia, Anophthalmia, Optic nerve hypoplasia	OMIM:610829
Oculodentodigital Dysplasia	Microphthalmia	OMIM:164200
Microgastria-Limb Reduction Defect Syndrome	Microphthalmia, Anophthalmia	ORPHA:2538
Fanconi Anemia, Complementation Group L	Microphthalmia	OMIM:614083
Rothmund-Thomson Syndrome, Type 2	Microphthalmia	OMIM:268400
Fanconi Anemia, Complementation Group D2	Microphthalmia	OMIM:227646
Kenny-Caffey Syndrome, Type 2	Microphthalmia	OMIM:127000
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Microphthalmia, Anophthalmia	ORPHA:2526
Fraser Syndrome 2	Microphthalmia	OMIM:617666
Meckel Syndrome	Aplasia/Hypoplasia of the iris, Microphthalmia, Anophthalmia	ORPHA:564
Mosaic Variegated Aneuploidy Syndrome	Microphthalmia	ORPHA:1052
Hallermann-Streiff Syndrome	Microphthalmia	ORPHA:2108
Bartsocas-Papas Syndrome 1	Microphthalmia	OMIM:263650
Cockayne Syndrome B	Hypoplasia of the iris, Microphthalmia	OMIM:133540
Phace Syndrome	Microphthalmia, Lens coloboma, Optic nerve hypoplasia	ORPHA:42775
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Microphthalmia	OMIM:616975
Holoprosencephaly-Postaxial Polydactyly Syndrome	Microphthalmia	ORPHA:2166
Treacher-Collins Syndrome	Microphthalmia	ORPHA:861
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Microphthalmia	OMIM:617925
Trichothiodystrophy	Bilateral microphthalmos	ORPHA:33364
Microphthalmia With Limb Anomalies	Microphthalmia, True anophthalmia	ORPHA:1106
Aicardi Syndrome	Microphthalmia	ORPHA:50
Oculocerebrorenal Syndrome Of Lowe	Buphthalmos, Microphthalmia	ORPHA:534
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Microphthalmia	OMIM:620005
Linear Skin Defects With Multiple Congenital Anomalies 1	Microphthalmia	OMIM:309801
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Microphthalmia	OMIM:601552
Holoprosencephaly 7	Microphthalmia, Bilateral microphthalmos	OMIM:610828
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia, Phthisis bulbi	OMIM:259770
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Microphthalmia	OMIM:609945
Cockayne Syndrome Type 3	Microphthalmia	ORPHA:90324
Aicardi Syndrome	Microphthalmia	OMIM:304050
Fanconi Anemia	Aplasia/Hypoplasia of the iris, Microphthalmia	ORPHA:84
Monosomy 9P	Microphthalmia	ORPHA:261112
Mend Syndrome	Microphthalmia	ORPHA:401973
22Q11.2 Deletion Syndrome	Microphthalmia	ORPHA:567
Fryns Syndrome	Microphthalmia	OMIM:229850
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Buphthalmos, Microphthalmia, Hypoplasia of the retina	OMIM:253280
Myhre Syndrome	Microphthalmia	OMIM:139210
Microphthalmia With Linear Skin Defects Syndrome	Microphthalmia, Anophthalmia	ORPHA:2556
Roberts Syndrome	Microphthalmia	ORPHA:3103
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Microphthalmia	ORPHA:3186
Bosma Arhinia Microphthalmia Syndrome	Microphthalmia	OMIM:603457
Cockayne Syndrome	Microphthalmia	ORPHA:191
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Bilateral microphthalmos, Optic nerve hypoplasia	ORPHA:468631
Proboscis Lateralis	Microphthalmia, Anophthalmia, Optic nerve hypoplasia	ORPHA:141099
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Microphthalmia	OMIM:620186
Meckel Syndrome, Type 1	Microphthalmia	OMIM:249000
Microphthalmia, Syndromic 2	Microphthalmia, Phthisis bulbi, Anophthalmia	OMIM:300166
Degcags Syndrome	Microphthalmia	OMIM:619488
Monosomy 13Q14	Microphthalmia	ORPHA:1587
Skin Creases, Congenital Symmetric Circumferential, 2	Microphthalmia	OMIM:616734
Frontofacionasal Dysplasia	Microphthalmia	OMIM:229400
Charge Syndrome	Microphthalmia, Anophthalmia	ORPHA:138
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Microphthalmia	OMIM:608670
Fontaine Progeroid Syndrome	Microphthalmia	OMIM:612289
Yunis-Varon Syndrome	Microphthalmia, Bilateral microphthalmos	ORPHA:3472
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Microphthalmia	ORPHA:306542
Focal Dermal Hypoplasia	Aniridia, Microphthalmia, Anophthalmia	OMIM:305600
Chromosome 13Q14 Deletion Syndrome	Microphthalmia	OMIM:613884
Tetraamelia Syndrome 1	Microphthalmia	OMIM:273395
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Microphthalmia	OMIM:612474
Renpenning Syndrome 1	Microphthalmia	OMIM:309500
Neuroocular Syndrome	Hypoplasia of the fovea, Microphthalmia, 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
Charge Syndrome	Microphthalmia, Anophthalmia, Unilateral microphthalmos	OMIM:214800
Lowe Oculocerebrorenal Syndrome	Microphthalmia	OMIM:309000
Witteveen-Kolk Syndrome	Microphthalmia	OMIM:613406
Fraser Syndrome 1	Anophthalmia, Bilateral microphthalmos	OMIM:219000
Norrie Disease	Hypoplasia of the iris, Microphthalmia, Aplasia/Hypoplasia of the lens	ORPHA:649
Holoprosencephaly 1	Microphthalmia	OMIM:236100
Microphthalmia, Syndromic 6	Microphthalmia, Anophthalmia	OMIM:607932
Pallister-Hall Syndrome	Microphthalmia	ORPHA:672
8Q24.3 Microdeletion Syndrome	Bilateral microphthalmos, Optic nerve hypoplasia	ORPHA:508488
Treacher Collins Syndrome 1	Bilateral microphthalmos	OMIM:154500
Hydrolethalus Syndrome 1	Microphthalmia	OMIM:236680
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hypoplasia of the iris, Microphthalmia	OMIM:175780
Branchiooculofacial Syndrome	Microphthalmia, Anophthalmia	OMIM:113620
Holoprosencephaly 2	Microphthalmia	OMIM:157170
Mowat-Wilson Syndrome	Microphthalmia	OMIM:235730
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	Lymphopenia, Eosinophilia, Hepatic cysts	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.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

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

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us

Gene: Extl3 MGI:1860765

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

X-ray

X-ray

Human diseases caused by Extl3 mutations

Histopathology

IMPC related publications

Order Mouse and ES Cells

The IMPC Newsletter

Access Data Release 20.1 Data