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Gene: Dnase1l3 MGI:1314633

Gene Summary

Name:

deoxyribonuclease 1-like 3

Synonyms:

DNasegamma

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	P Value
abnormal skin morphology	Dnase1l3^em1(IMPC)Mbp	HOM	Early adult	0.00
microphthalmia	Dnase1l3^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal testis morphology	Dnase1l3^em1(IMPC)Mbp	HOM	Early adult	0.00
enlarged spleen	Dnase1l3^em1(IMPC)Mbp	HOM	Early adult	0.00
enlarged testis	Dnase1l3^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal eye morphology	Dnase1l3^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal liver morphology	Dnase1l3^em1(IMPC)Mbp	HOM	Early adult	0.00
increased red blood cell distribution width	Dnase1l3^em1(IMPC)Mbp	HOM	Early adult	0.000100
increased spleen weight	Dnase1l3^em1(IMPC)Mbp	HOM	Early adult	5.35×10^-06
abnormal spleen morphology	Dnase1l3^em1(IMPC)Mbp	HOM	Early adult	0.00
small liver	Dnase1l3^em1(IMPC)Mbp	HOM	Early adult	0.00

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 Lateral Orientation

16 Images

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X-ray

XRay Images Whole Body Dorso Ventral

48 Images

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Human diseases caused by Dnase1l3 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 Dnase1l3 (2 diseases)
Human diseases predicted to be associated with Dnase1l3 (772 diseases)

The table below shows human diseases associated to Dnase1l3 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Hypocomplementemic Urticarial Vasculitis		Hepatomegaly, Splenomegaly, Ascites, Lymphadenopathy	ORPHA:36412
Systemic Lupus Erythematosus 16			OMIM:614420

The table below shows human diseases predicted to be associated to Dnase1l3 by phenotypic similarity.

Disease	Matching phenotypes	Source
Anemia, Congenital Dyserythropoietic, Type Ib	Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos...	OMIM:615631
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Erythroid hyperplasi...	OMIM:616860
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol...	ORPHA:766
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Splenomegaly	ORPHA:2274
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Hypochromic anemia, Cryptorchidism, Anemia of inadequate production, Anisocytosis, Poikilocytosis...	ORPHA:67044
Hemoglobin D Disease	Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno...	ORPHA:90039
Hemoglobin H Disease	HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia	OMIM:613978
Overhydrated Hereditary Stomatocytosis	Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis...	ORPHA:3203
Anemia, Congenital Dyserythropoietic, Type Iv	Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato...	OMIM:613673
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Anemia, Hepatomegaly, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Beta-Thalassemia, Dominant Inclusion Body Type	Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat...	OMIM:603902
Anemia, Congenital Dyserythropoietic, Type Ia	Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequate...	OMIM:224120
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Poikilocytosis, Oval macrocytosis, Anemia of inadequate production, Anisocytosis	OMIM:603529
Hyperbilirubinemia, Shunt, Primary	Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Hepatomega...	OMIM:237800
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Erythroleukemia, Familial, Susceptibility To	Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen...	OMIM:133180
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Intellectual Developmental Disorder, X-Linked 14	Macroorchidism	OMIM:300062
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Bone marrow hypocellularity, Abnormal neutrophil morphology, Leukopenia, Abnormal erythrocyte mor...	ORPHA:86841
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome	Macroorchidism	ORPHA:85320
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly...	OMIM:300908
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia	OMIM:206400
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Cardiomegaly, Macroorchidism	OMIM:300886
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Hepatomegaly, Microphthalmia	ORPHA:2432
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin	ORPHA:231393
Intellectual Developmental Disorder, X-Linked 2	Macroorchidism	OMIM:300428
Familial Peripheral Male-Limited Precocious Puberty	Precocious puberty, Macroorchidism, Long penis, Oligozoospermia	ORPHA:3000
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly	OMIM:619813
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Sea-Blue Histiocyte Disease	Sea-blue histiocytosis, Elevated circulating aspartate aminotransferase concentration, Splenomega...	OMIM:269600
Proteasome-Associated Autoinflammatory Syndrome 5	Hepatomegaly, Splenomegaly	OMIM:619175
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Decreased helper T cell proportion, Pancytopenia, Splenomegaly, Hypersplenism	OMIM:183350
Persistent Polyclonal B-Cell Lymphocytosis	Hepatomegaly, Lymphocytosis, Splenomegaly	OMIM:606445
Anemia, Congenital Dyserythropoietic, Type Ii	Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice	OMIM:224100
Dominant Beta-Thalassemia	Hepatic fibrosis, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F...	ORPHA:231226
Mental retardation, x-linked, syndromic, Turner type	Macroorchidism	OMIM:300706
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hepatitis, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Autoimmune th...	ORPHA:444463
Hemochromatosis, Type 2B	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hypogonadism, Splenome...	OMIM:613313
Hemoglobin E Disease	Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega...	ORPHA:2133
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:52416
Immunodeficiency 16	Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly	OMIM:615593
Autoinflammation With Episodic Fever And Lymphadenopathy	Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly	OMIM:618852
Tyrosinemia Type 1	Hepatomegaly, Splenomegaly, Acute hepatic failure, Hepatocellular carcinoma	ORPHA:882
Hypertriglyceridemia, Transient Infantile	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Spl...	OMIM:614480
Encephalopathy Due To Prosaposin Deficiency	Hepatomegaly, Splenomegaly	ORPHA:139406
Osteopetrosis, Autosomal Recessive 8	Unilateral microphthalmos, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia	OMIM:615085
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Recurrent pancreatitis, Splenomegaly	OMIM:118830
Rh Deficiency Syndrome	Stomatocytosis, Hepatosplenomegaly, Reticulocytosis, Macrocytic anemia, Anisocytosis, Spherocytos...	ORPHA:71275
Congenital Toxoplasmosis	Elevated circulating hepatic transaminase concentration, Ascites, Cardiomegaly, Hepatomegaly, Lym...	ORPHA:858
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Hepatomegaly, Thrombocytopenia, Neutropen...	OMIM:615285
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hypogonadism, Sideroblastic anemia, Azoospermia, Splenomegaly, Hepatomegaly, Hypochromia, Poikilo...	OMIM:615234
Microphthalmia, Isolated 4	Absent testis, Microphthalmia	OMIM:613094
Iron-Refractory Iron Deficiency Anemia	Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis	OMIM:206200
Partington Syndrome	Macroorchidism	ORPHA:94083
Immunodeficiency 104	Hepatomegaly, T lymphocytopenia, Splenomegaly, Lymphadenopathy	OMIM:608971
Prolactin Deficiency With Obesity And Enlarged Testes	Macroorchidism, Reduced circulating prolactin concentration	OMIM:264120
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy...	ORPHA:251380
Trimethylaminuria	Anemia, Splenomegaly, Neutropenia	OMIM:602079
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Cholelithiasis, Splenomegaly, Reticulocytosis, Cholecystitis, Nonspherocytic h...	OMIM:235700
Cholestasis, Progressive Familial Intrahepatic, 12	Cholestasis, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevate...	OMIM:620010
Dehydrated Hereditary Stomatocytosis 2	Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy...	OMIM:616689
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Isolated Splenogonadal Fusion	Abnormal penis morphology, Testicular mass, Polysplenia, Bilateral cryptorchidism, Abnormal scrot...	ORPHA:457083
Intellectual Developmental Disorder, X-Linked, Syndromic, Shashi Type	Macroorchidism	OMIM:300238
Megalencephaly	Macroorchidism, Long penis	ORPHA:2477
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Hepatomegaly, Fetal ascites, Splenomegaly	OMIM:619462
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis, Intermittent jaundice	OMIM:179700
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Abnormal reticulocyte morphology, Bone marrow hypocellularity, Elliptocytosis, Macrocytic anemia,...	OMIM:300835
Congenital Bile Acid Synthesis Defect Type 1	Elevated circulating hepatic transaminase concentration, Neonatal cholestatic liver disease, Sple...	ORPHA:79301
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Elevated circulating aspartate aminotra...	OMIM:619658
Bile Acid Synthesis Defect, Congenital, 5	Hepatic fibrosis, Hepatic failure, Portal fibrosis, Elevated circulating hepatic transaminase con...	OMIM:616278
Polyembryoma	Isosexual precocious puberty, Macroorchidism, Abdominal mass, Abnormal peritoneum morphology	ORPHA:180229
Immunodeficiency 42	Hepatomegaly, Hypoplasia of the thymus, Splenomegaly	OMIM:616622
Congenital Dyserythropoietic Anemia Type Iii	Elevated circulating hepatic transaminase concentration, Increased mean corpuscular volume, Abnor...	ORPHA:98870
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hemophagocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Neutropenia, Ane...	OMIM:603552
Hypereosinophilic Syndrome, Idiopathic	Hepatomegaly, Eosinophilia, Myeloproliferative disorder, Splenomegaly	OMIM:607685
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ...	ORPHA:75564
Splenoportal Vascular Anomalies	Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis, Anomalous splenoportal venous system	OMIM:271500
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Portal hypertension, Splen...	OMIM:617068
Wolman Disease	Hepatomegaly, Splenomegaly, Acute hepatic failure	OMIM:620151
Alpha-Heavy Chain Disease	Ascites, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia	ORPHA:100025
Ras-Associated Autoimmune Leukoproliferative Disorder	Pancytopenia, Splenomegaly, Follicular hyperplasia, Hepatomegaly, Lymphocytosis, Neutropenia, Mon...	OMIM:614470
17Q11.2 Microduplication Syndrome	Macroorchidism	ORPHA:139474
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
Immunodeficiency 69	Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Thrombocytosis, A...	OMIM:618963
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Howell-Jolly bodies, Sideroblastic anemia, Pappenheimer bodies, Erythroid hyperplasia, Cryptorchi...	OMIM:301310
Nephronophthisis 19	Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Splenomegaly, Hepatomega...	OMIM:616217
Fanconi Anemia, Complementation Group G	Microphthalmia, Anemia, Neutropenia, Thrombocytopenia, Leukemia	OMIM:614082
Fragile X Syndrome	Macroorchidism, postpubertal, Congenital macroorchidism	OMIM:300624
Galactose Epimerase Deficiency	Hepatomegaly, Jaundice, Splenomegaly	ORPHA:79238
Atkin-Flaitz Syndrome	Macroorchidism	ORPHA:1193
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:610293
Erythrocytosis, Familial, 8	Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,...	OMIM:222800
Combined Saposin Deficiency	Hepatomegaly, Splenomegaly	OMIM:611721
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Hepatomegaly, Cryptorchidism, Microphthalmia	OMIM:613730
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Pyruvate Kinase Deficiency Of Red Cells	Cholelithiasis, Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Reticulocytosis, S...	OMIM:266200
Mu-Heavy Chain Disease	Abnormal B cell count, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia	ORPHA:100024
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Hepatomegaly, Anisocytosis	OMIM:604273
Neonatal Severe Primary Hyperparathyroidism	Hepatomegaly, Splenomegaly	ORPHA:417
Spherocytosis, Type 5	Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ...	OMIM:612690
Cholestasis, Progressive Familial Intrahepatic, 3	Intrahepatic cholestasis, Portal fibrosis, Portal inflammation, Elevated circulating hepatic tran...	OMIM:602347
Intellectual Developmental Disorder, X-Linked 21	Macroorchidism	OMIM:300143
Cholestasis, Progressive Familial Intrahepatic, 10	Portal fibrosis, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Ele...	OMIM:619868
Niemann-Pick Disease, Type B	Sea-blue histiocytosis, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Bone-marrow foam cells	OMIM:607616
Mccune-Albright Syndrome	Precocious puberty, Bone marrow hypocellularity, Hepatitis, Increased circulating prolactin conce...	ORPHA:562
Gombo Syndrome	Microphthalmia	OMIM:233270
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hypersplenism, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia	OMIM:610539
Triokinase And Fmn Cyclase Deficiency Syndrome	Microcytic anemia, Hepatic steatosis, Pancreatitis, Elevated circulating alanine aminotransferase...	OMIM:618805
Mast Cell Sarcoma	Mastocytosis, Splenomegaly, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy	ORPHA:66661
Beta-Thalassemia	Cholelithiasis, Hepatitis, Microcytic anemia, Abnormal hemoglobin, Splenomegaly, Hypogonadotropic...	ORPHA:848
Cholestasis-Lymphedema Syndrome	Elevated circulating hepatic transaminase concentration, Neonatal cholestatic liver disease, Sple...	OMIM:214900
Mmep Syndrome	Cryptorchidism, Microphthalmia	ORPHA:3434
Galactosemia Iii	Hepatomegaly, Jaundice, Splenomegaly	OMIM:230350
Congenital Rubella Syndrome	Splenomegaly, Aplasia/Hypoplasia of the iris, Hepatomegaly, Thrombocytopenia, Microphthalmia, Ane...	ORPHA:290
Sandhoff Disease	Hepatomegaly, Splenomegaly	ORPHA:796
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati...	OMIM:616828
Progressive Familial Intrahepatic Cholestasis	Cholestasis, Hepatomegaly, Jaundice, Splenomegaly	ORPHA:172
Spherocytosis, Type 1	Cholelithiasis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:182900
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia	ORPHA:231401
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:86893
Rh-Null, Amorph Type	Stomatocytosis, Hemolytic anemia, Reticulocytosis, Anisocytosis	OMIM:617970
Cholestasis, Progressive Familial Intrahepatic, 9	Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta...	OMIM:619849
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hepatocellular necrosis, Hepatosplenomegaly, Elliptocytosis, Reticulocytosis, Leukocytosis, Aniso...	OMIM:618278
X-Linked Intellectual Disability, Shashi Type	Macroorchidism	ORPHA:85286
Ghosal Hematodiaphyseal Dysplasia	Anemia, Splenomegaly	ORPHA:1802
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Macroorchidism	ORPHA:3077
Sclerosing Cholangitis, Neonatal	Hepatic bridging fibrosis, Hepatic failure, Portal fibrosis, Biliary cirrhosis, Cholestasis, Asci...	OMIM:617394
47,Xyy Syndrome	Varicocele, Azoospermia, Cryptorchidism, Micropenis, Oligozoospermia, Increased circulating gonad...	ORPHA:8
Osteopetrosis, Autosomal Dominant 3	Anemia, Hyperparathyroidism, Splenomegaly, Hepatomegaly	OMIM:618107
Aicardi-Goutieres Syndrome 6	Hepatomegaly, Hemolytic anemia, Splenomegaly, Thrombocytopenia	OMIM:615010
Clark-Baraitser syndrome	Macroorchidism	OMIM:300602
Non-Functioning Pituitary Adenoma	Secondary growth hormone deficiency, Male hypogonadism, Hypopituitarism, Decreased response to gr...	ORPHA:91349
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatic bridging fibrosis, Hepatic fibrosis, Hepatic failure, Splenomegaly, Hepatomegaly	OMIM:616719
Alpha-Thalassemia	Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenome...	ORPHA:846
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Splenomegaly, Cholecystitis, No...	OMIM:613470
Dehydrated Hereditary Stomatocytosis	Cholelithiasis, Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemog...	ORPHA:3202
Matthew-Wood Syndrome	Annular pancreas, Abnormality of the uterus, Cryptorchidism, Anophthalmia, Abnormal spleen morpho...	ORPHA:2470
Immunodeficiency 84	Splenomegaly, B lymphocytopenia	OMIM:619437
Xp22.13P22.2 Duplication Syndrome	Macroorchidism, Polycystic ovaries	ORPHA:284180
Alpha-1-Antitrypsin Deficiency	Cirrhosis, Splenomegaly, Elevated circulating hepatic transaminase concentration, Hepatocellular ...	OMIM:613490
Congenital Disorder Of Glycosylation, Type Ik	Hypogonadism, Hepatomegaly, Splenomegaly	OMIM:608540
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Hepatitis, Splenomegaly, Inc...	OMIM:194380
Microphthalmia/Coloboma 6	Hypoplasia of the fovea, Optic disc hypoplasia, Bilateral microphthalmos	OMIM:613703
Thrombocytopenia With Beta-Thalassemia, X-Linked	Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,...	OMIM:314050
Functioning Gonadotropic Adenoma	Pituitary gonadotropic cell adenoma, Decreased response to growth hormone stimulation test, Panhy...	ORPHA:91348
Lujan-Fryns Syndrome	Macroorchidism	ORPHA:776
Hemochromatosis, Type 2A	Azoospermia, Splenomegaly, Hypogonadotropic hypogonadism, Cirrhosis, Hepatomegaly	OMIM:602390
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Ascites, Splenomegaly, Anemia, Hypoplasia of penis, Hypospadias	ORPHA:1046
Fragile X Syndrome	Macroorchidism	ORPHA:908
Immunodeficiency 48	Abnormal B cell count, Splenomegaly, Impaired lymphocyte transformation with phytohemagglutinin, ...	OMIM:269840
Congenital Fibrinogen Deficiency	Hemorrhagic ovarian cyst, Decreased testicular size, Left ventricular hypertrophy, Splenic ruptur...	ORPHA:335
Immunodeficiency 52	Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell count, Decreased propor...	OMIM:617514
X-Linked Sideroblastic Anemia	Anemia, Elevated circulating hepatic transaminase concentration, Splenomegaly	ORPHA:75563
Portal Hypertension, Noncirrhotic, 2	Nodular regenerative hyperplasia of liver, Elevated circulating hepatic transaminase concentratio...	OMIM:619463
Microphthalmia, Syndromic 12	Bicornuate uterus, Cryptorchidism, Anophthalmia, Microphthalmia	OMIM:615524
Beta-Thalassemia Intermedia	Cholelithiasis, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypogonadism, Increase...	ORPHA:231222
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Anemia	OMIM:613101
Gray Platelet Syndrome	Splenomegaly, Thrombocytopenia	ORPHA:721
Retinitis Pigmentosa And Erythrocytic Microcytosis	Leukopenia, Elliptocytosis, Anisocytosis, Hypochromia, Poikilocytosis, Anemia, Thrombocytopenia, ...	OMIM:616959
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Male hypogonadism, Macroorchidism	OMIM:300055
Cholesteryl Ester Storage Disease	Hepatic failure, Splenomegaly, Cirrhosis, Hepatomegaly, Jaundice	ORPHA:75234
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Abnormal female external genitalia morphology, Endometrial carcinoma, Adrenal hyperplasia, Male p...	ORPHA:90790
Cholestasis-Lymphedema Syndrome	Portal hypertension, Splenomegaly, Neonatal cholestatic liver disease, Biliary tract abnormality,...	ORPHA:1414
Spherocytosis, Type 2	Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:616649
Microphthalmia/Coloboma 4	Microphthalmia	OMIM:251505
Hepatoportal Sclerosis	Nodular regenerative hyperplasia of liver, Periportal fibrosis, Abnormality of the hepatic vascul...	ORPHA:64743
Orotic Aciduria	Folate-unresponsive megaloblastic anemia, Anisocytosis, Hypochromia, Poikilocytosis, Pyrimidine-r...	OMIM:258900
Testicular Regression Syndrome	Abnormal morphology of female internal genitalia, Decreased testicular size, Agonadism, Male pseu...	ORPHA:983
Spherocytosis, Type 4	Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:612653
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome	Macroorchidism, Elevated circulating growth hormone concentration	ORPHA:85327
Aicardi-Goutieres Syndrome 4	Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Pancytopenia, Spleno...	OMIM:610333
Isolated Follicle Stimulating Hormone Deficiency	Male hypogonadism, Decreased testicular size, Azoospermia, Gonadotropin deficiency, Hypogonadotro...	ORPHA:52901
Leukocyte Adhesion Deficiency, Type Iii	Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocytosis, S...	OMIM:612840
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Hypopl...	ORPHA:2585
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Decreased proportion of class-switched memory B cells, Increased proportion of tran...	OMIM:615513
Immunodeficiency 76	Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia	OMIM:619164
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Cardiomegaly, Macroorchidism	ORPHA:324410
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Anophthalmia, Microphthalmia	ORPHA:85275
Cholesteryl Ester Storage Disease	Hepatic bridging fibrosis, Hepatic fibrosis, Periportal fibrosis, Hepatic failure, Increased hepa...	OMIM:278000
Overhydrated Hereditary Stomatocytosis	Stomatocytosis, Increased mean corpuscular volume, Splenomegaly, Reticulocytosis, Hepatomegaly, P...	OMIM:185000
Autoimmune Lymphoproliferative Syndrome	Chronic noninfectious lymphadenopathy, Autoimmune hemolytic anemia, Splenomegaly, Follicular hype...	OMIM:601859
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ...	OMIM:615559
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Splenomegaly, Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic an...	OMIM:619375
Microcephaly-Microcornea Syndrome, Seemanova Type	Hypogonadism, Microphthalmia	ORPHA:2528
Harderoporphyria	Splenomegaly, Reticulocytosis, Hepatomegaly, Prolonged neonatal jaundice, Hemolytic anemia	OMIM:618892
B-Cell Expansion With Nfkb And T-Cell Anergy	Increased B cell count, Splenomegaly	OMIM:616452
Follicular Lymphoma	Mediastinal lymphadenopathy, Splenomegaly, Abnormal peritoneum morphology, Lymphadenopathy	ORPHA:545
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Macroorchidism, Hypospadias, Unilateral microphthalmos	OMIM:618874
Bile Acid Synthesis Defect, Congenital, 3	Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatic failure, Hepatitis, Elevated circula...	OMIM:613812
Coproporphyria, Hereditary	Hepatomegaly, Jaundice, Splenomegaly	OMIM:121300
Schnitzler Syndrome	Leukocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia	ORPHA:37748
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis	OMIM:617441
Glut1 Deficiency Syndrome 2	Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:612126
Amyloidosis, Hereditary Systemic 2	Cholestasis, Hepatomegaly, Splenomegaly	OMIM:105200
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Hepatomegaly, Splenomegaly	ORPHA:2204
Gaucher Disease Type 2	Hepatomegaly, Splenomegaly	ORPHA:77260
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia	OMIM:251700
Gracile Bone Dysplasia	Ascites, Aniridia, Microphthalmia, Micropenis, Asplenia, Hypoplastic spleen	OMIM:602361
Immunodeficiency 27A	Hepatosplenomegaly, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombocytosis, Anemia, Enlarged...	OMIM:209950
Joubert Syndrome 37	Decreased testicular size, Cryptorchidism, Hepatomegaly, Microphthalmia, Micropenis	OMIM:619185
Cryohydrocytosis	Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis	OMIM:185020
Polycythemia Vera	Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul...	OMIM:263300
Biemond Syndrome Type 2	Hypogonadism, Hypogonadotropic hypogonadism, Hypospadias, Microphthalmia	ORPHA:141333
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Reduced natural killer cell count, Hepatic failure, Elevated circulating hepatic transaminase con...	ORPHA:158057
Lymphoproliferative Syndrome, X-Linked, 2	Aplastic anemia, Hemophagocytosis, Hepatitis, Pancytopenia, Splenomegaly, Hepatomegaly	OMIM:300635
Spastic Paraplegia-Precocious Puberty Syndrome	Hyperplasia of the Leydig cells, Precocious puberty in males	ORPHA:2826
Hb Bart'S Hydrops Fetalis	Anemia, Hepatomegaly, Splenomegaly, Abnormal hemoglobin	ORPHA:163596
Hemochromatosis, Type 1	Elevated circulating hepatic transaminase concentration, Ascites, Azoospermia, Splenomegaly, Card...	OMIM:235200
Glycogen Storage Disease Ixb	Hepatomegaly, Splenomegaly, Increased hepatic glycogen content	OMIM:261750
Nanophthalmos	Microphthalmia	ORPHA:35612
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Cervica...	OMIM:618534
Pfapa Syndrome	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:42642
Babesiosis	Hepatic failure, Leukopenia, Splenomegaly, Thrombocytopenia, Hepatomegaly, Jaundice, Hemolytic an...	ORPHA:108
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Decreased CD4:CD8 ratio, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly	OMIM:618495
Microphthalmia, Isolated 1	Anophthalmia, Microphthalmia	OMIM:251600
Indolent Systemic Mastocytosis	Mastocytosis, Increased proportion of CD25+ mast cells, Splenomegaly, Lymphadenopathy, Hepatomega...	ORPHA:98848
Glycogen Storage Disease Ixc	Elevated circulating hepatic transaminase concentration, Splenomegaly, Increased hepatic glycogen...	OMIM:613027
Primary Myelofibrosis	Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm...	ORPHA:824
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Hypogonadism, External genital hypoplasia, Cryptorchidism, Microphthalmia	ORPHA:363741
Thrombocythemia 1	Splenomegaly, Thrombocytosis	OMIM:187950
Leishmaniasis	Elevated circulating hepatic transaminase concentration, Pancytopenia, Leukopenia, Splenomegaly, ...	ORPHA:507
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Immunodeficiency 7	Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia, Hepat...	OMIM:615387
Sea-Blue Histiocytosis	Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia, Hepatomegaly, Mediastinal lymphadenopathy	ORPHA:158029
Aromatase Deficiency	Ambiguous genitalia, female, Female pseudohermaphroditism, Cryptorchidism, Hepatic steatosis, Enl...	ORPHA:91
Cold Agglutinin Disease	Hepatomegaly, Hemolytic anemia, Splenomegaly, Lymphadenopathy	ORPHA:56425
Elliptocytosis 1	Jaundice, Hemolytic anemia, Splenomegaly, Elliptocytosis	OMIM:611804
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, Splenomegaly, Decre...	OMIM:300853
Osteopetrosis, Autosomal Recessive 4	Splenomegaly, Reticulocytosis, Hepatomegaly, Thrombocytopenia, Anemia	OMIM:611490
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Exocrine pancreatic insufficiency, Splenomegaly, Anemia of inadequate production, Hepatomegaly, J...	OMIM:612714
Sickle Cell Disease	Splenic infarction, Cholelithiasis, Increased red cell sickling tendency, Leukocytosis, Splenomeg...	OMIM:603903
Cholestasis, Progressive Familial Intrahepatic, 2	Intrahepatic cholestasis, Splenomegaly, Intermittent jaundice, Cirrhosis, Hepatomegaly, Hepatocel...	OMIM:601847
Microphthalmia/Coloboma 5	Anophthalmia, Bilateral microphthalmos, Microphthalmia	OMIM:611638
Lipodystrophy, Congenital Generalized, Type 3	Hepatomegaly, Hepatosplenomegaly, Splenomegaly, Hepatic steatosis	OMIM:612526
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Cholestasis, Portal hypertension, Splenomegaly, Hepatomegaly, Jaundice	ORPHA:59303
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Anemia, Hepatomegaly, Splenomegaly	OMIM:620296
Wolman Disease	Hepatic failure, Ascites, Splenomegaly, Hepatomegaly, Anemia, Bone-marrow foam cells	ORPHA:75233
Immunodeficiency 54	Reduced natural killer cell count, Splenomegaly, Adrenocorticotropic hormone excess, Lymphadenopa...	OMIM:609981
Gaucher Disease, Type Iii	Hepatomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia	OMIM:231000
Cerebrooculofacioskeletal Syndrome 3	Microphthalmia	OMIM:616570
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Absent circulating B cells, Splenomegaly, Generalized lymphadenopathy	OMIM:620282
Cholestasis, Progressive Familial Intrahepatic, 1	Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jaundice, Hepatom...	OMIM:211600
Immunodeficiency 32B	Impaired oxidative burst, Splenomegaly, Hepatomegaly, Eosinophilia, Monocytopenia, Thrombocytopen...	OMIM:226990
Lymphoproliferative Syndrome 2	Aplastic anemia, Hemophagocytosis, Ascites, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Lymph...	OMIM:615122
Transaldolase Deficiency	Hepatic fibrosis, Clitoral hypertrophy, Micronodular cirrhosis, Decreased liver function, Hepatos...	OMIM:606003
Erythrocytosis, Familial, 1	Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red...	OMIM:133100
Microphthalmia/Coloboma 10	Anophthalmia, Microphthalmia	OMIM:616428
Nanophthalmos 4	Microphthalmia	OMIM:615972
Isolated Thyroid-Stimulating Hormone Deficiency	Increased circulating prolactin concentration, Goiter, Prolonged neonatal jaundice, Pituitary hyp...	ORPHA:90674
Fish-Eye Disease	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:79292
Lymphoproliferative Syndrome 1	Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, ...	OMIM:613011
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
Griscelli Syndrome Type 2	Hemophagocytosis, Pancytopenia, Splenomegaly, Lymphadenopathy, Neutropenia, Hepatomegaly, Jaundice	ORPHA:79477
Bile Acid Synthesis Defect, Congenital, 1	Intrahepatic cholestasis, Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic tra...	OMIM:607765
Lymphoproliferative Syndrome, X-Linked, 1	Abnormal T cell count, Hepatic failure, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal...	OMIM:308240
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Splenomegaly, Hepatomegaly, Pancreatitis, Thrombocytopenia, Neutropenia, Anemia	ORPHA:79312
Bile Acid Synthesis Defect, Congenital, 2	Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio...	OMIM:235555
Classic Mycosis Fungoides	Hepatomegaly, Abnormal lymphocyte morphology, Splenomegaly, Lymphadenopathy	ORPHA:2584
Hereditary Elliptocytosis	Cholelithiasis, Stomatocytosis, Abnormal erythrocyte morphology, Congenital hemolytic anemia, Ret...	ORPHA:288
Autoimmune Lymphoproliferative Syndrome, Type Iia	Chronic noninfectious lymphadenopathy, Autoimmune hemolytic anemia, Splenomegaly, Follicular hype...	OMIM:603909
Oculocerebrocutaneous Syndrome	Cryptorchidism, Anophthalmia, Microphthalmia	OMIM:164180
Hereditary Spherocytosis	Spontaneous hemolytic crises, Cholelithiasis, Increased mean corpuscular hemoglobin concentration...	ORPHA:822
Immunodeficiency, Common Variable, 2	Abnormal T cell count, Splenomegaly, Follicular hyperplasia, Lymphadenopathy, Hepatomegaly	OMIM:240500
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome	Hypogonadism, Cryptorchidism, Microphthalmia	OMIM:601794
Chronic Myeloid Leukemia	Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb...	ORPHA:521
Immunodeficiency, Common Variable, 1	Abnormal T cell count, Splenomegaly, Decreased proportion of class-switched memory B cells, Lymph...	OMIM:607594
Warburg Micro Syndrome 1	External genital hypoplasia, Cryptorchidism, Microphthalmia	OMIM:600118
Glycogen Storage Disease Ixa1	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly	OMIM:306000
Trisomy 20P	Macroorchidism, Hypospadias, Cryptorchidism	ORPHA:261318
Xk Aprosencephaly Syndrome	Abnormal external genitalia, Microphthalmia	ORPHA:3469
Wilson Disease	Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failure, Acute ...	ORPHA:905
Cofs Syndrome	Hypogonadism, Microphthalmia	ORPHA:1466
Pierpont Syndrome	Cryptorchidism, Microphthalmia	ORPHA:487825
Fetal Cytomegalovirus Syndrome	Elevated circulating hepatic transaminase concentration, Hepatitis, Splenomegaly, Hepatomegaly, T...	ORPHA:294
Hurler-Scheie Syndrome	Hepatomegaly, Abnormality of the tonsils, Splenomegaly	ORPHA:93476
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Abnormally low T cell receptor excision circle level, Genital ulcers, Lymphopenia, Lymph node hyp...	OMIM:602450
Congenital Disorder Of Glycosylation, Type Iij	Hepatic failure, Elevated circulating hepatic transaminase concentration, Splenomegaly, Cirrhosis...	OMIM:613489
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Nodular regenerative hyperplasia of liver, Hepatic failure, Increased mean corpuscular volume, Po...	OMIM:620367
Microphthalmia, Syndromic 8	Cryptorchidism, Microphthalmia	OMIM:601349
Short Fifth Metacarpals-Insulin Resistance Syndrome	Spherocytosis, Splenomegaly	ORPHA:66518
Gamma-Heavy Chain Disease	Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, Hepatomegaly, Lymphade...	ORPHA:100026
Cystic Echinococcosis	Cholestatic liver disease, Peritoneal abscess, Abnormality of the testis size, Elevated circulati...	ORPHA:400
Pierpont Syndrome	Micropenis, Cryptorchidism, Microphthalmia	OMIM:602342
Myelofibrosis	Hemophagocytosis, Extramedullary hematopoiesis, Splenomegaly, Hepatomegaly, Myeloproliferative di...	OMIM:254450
Neonatal Lupus Erythematosus	Hepatic failure, Elevated circulating hepatic transaminase concentration, Aplastic anemia, Pancyt...	ORPHA:398124
Budd-Chiari Syndrome	Elevated circulating hepatic transaminase concentration, Ascites, Acute hepatic failure, Portal h...	ORPHA:131
Fanconi Anemia, Complementation Group J	Bone marrow hypocellularity, Microphthalmia	OMIM:609054
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Niemann-Pick Disease, Type A	Sea-blue histiocytosis, Microcytic anemia, Ascites, Elevated circulating aspartate aminotransfera...	OMIM:257200
Ornithine Transcarbamylase Deficiency	Hepatic failure, Splenomegaly	ORPHA:664
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Immunodeficiency 98 With Autoinflammation, X-Linked	Bone marrow hypocellularity, Hemophagocytosis, Agranulocytosis, Autoimmune hemolytic anemia, Sple...	OMIM:301078
Activated Pi3K-Delta Syndrome	Recurrent tonsillitis, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Hepatomegaly	ORPHA:397596
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abnormal CD4:CD8 ratio, Splenomegaly, Lymphadenopathy, Neutropenia, B lymphocytopenia, Intermitte...	OMIM:150550
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Microphthalmia/Coloboma 7	Microphthalmia	OMIM:614497
Omenn Syndrome	Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Hepatomegaly, Lymphadenopathy, Thro...	OMIM:603554
Immunodeficiency 114, Folate-Responsive	Lymphopenia, Splenomegaly, Megaloblastic anemia, Thrombocytopenia, Hepatomegaly	OMIM:620603
Infantile Liver Failure Syndrome 3	Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Cholestasis, ...	OMIM:618641
Meckel Syndrome, Type 8	Ambiguous genitalia, Enlarged kidney, Anophthalmia, Microphthalmia	OMIM:613885
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Macroorchidism	OMIM:309520
Caroli Disease	Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Cholestasis, Ascit...	ORPHA:53035
Deafness-Lymphedema-Leukemia Syndrome	Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombo...	ORPHA:3226
Fryns Microphthalmia Syndrome	Unicornuate uterus, Anophthalmia, Microphthalmia	OMIM:600776
Classic Hodgkin Lymphoma	Hepatomegaly, Bone marrow hypocellularity, Splenomegaly, Lymphadenopathy	ORPHA:391
Beta-Thalassemia Major	Hepatic fibrosis, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F...	ORPHA:231214
Foveal Hypoplasia 2	Hypoplasia of the fovea, Microphthalmia	OMIM:609218
Glycogen Storage Disease Xii	Normocytic anemia, Cholelithiasis, Splenomegaly, Cholecystitis, Decreased erythrocyte fructose-1,...	OMIM:611881
Microphthalmia/Coloboma 3	Microphthalmia	OMIM:610092
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Pancytopenia, Splenomegaly	OMIM:614979
Adams-Oliver Syndrome 4	Microphthalmia	OMIM:615297
Macrophage Activation Syndrome	Hemophagocytosis, Hepatitis, Decreased liver function, Elevated circulating aspartate aminotransf...	ORPHA:158061
Neurooculocardiogenitourinary Syndrome	Cardiomegaly, Microphthalmia, Bilateral cryptorchidism	OMIM:618652
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatic failure, Abnormally large globe, Abnormality of the uterus, Pancreatic lymphangiectasis, ...	ORPHA:1655
Agammaglobulinemia 8B, Autosomal Recessive	B Acute Lymphoblastic Leukemia, Pancytopenia, Splenomegaly, Increased proportion of effector memo...	OMIM:619824
Fetal Gaucher Disease	Abnormality of the spleen, Pancytopenia, Splenomegaly, Thrombocytopenia, Hepatomegaly	ORPHA:85212
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatic fibrosis, Hepatic failure, Cholestasis, Portal hypertension, Splenomegaly, Sclerosing cho...	OMIM:607626
Tafro Syndrome	Ascites, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Thrombocy...	ORPHA:457077
Congenital Pulmonary Lymphangiectasia	Ascites, Hepatomegaly, Splenomegaly	ORPHA:2414
Joubert Syndrome 33	Splenomegaly	OMIM:617767
Griscelli Syndrome	Bone marrow hypocellularity, Hepatitis, Ascites, Leukopenia, Splenomegaly, Lymphadenopathy, Throm...	ORPHA:381
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Microphthalmia	OMIM:616171
Microphthalmia, Isolated 6	Microphthalmia	OMIM:613517
Renal-Hepatic-Pancreatic Dysplasia 1	Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrhosis, Polysplenia, Chole...	OMIM:208540
Dihydropyrimidine Dehydrogenase Deficiency	Microphthalmia	OMIM:274270
Gaucher Disease Type 1	Splenic infarction, Cholelithiasis, Hepatic failure, Ascites, Hepatosplenomegaly, Pancytopenia, H...	ORPHA:77259
Familial Cold Autoinflammatory Syndrome 2	Leukocytosis, Splenomegaly, Lymphadenopathy	OMIM:611762
2Q24 Microdeletion Syndrome	Microphthalmia	ORPHA:1617
Xeroderma Pigmentosum, Complementation Group G	Microphthalmia	OMIM:278780
Parenteral Nutrition-Associated Cholestasis	Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc...	ORPHA:567983
Meckel Syndrome, Type 5	Bile duct proliferation, Microphthalmia	OMIM:611561
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hypoplasia of the iris, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Hepatomegaly, Hemolytic ...	ORPHA:169090
Proteasome-Associated Autoinflammatory Syndrome 4	Hepatomegaly, Lymphadenopathy, Splenomegaly, Autoimmune hemolytic anemia	OMIM:619183
Congenital Erythropoietic Porphyria	Leukopenia, Erythroid hyperplasia, Reticulocytosis, Splenomegaly, Anisocytosis, Thrombocytopenia,...	ORPHA:79277
Macrocephaly/Autism Syndrome	Lymphopenia, Penile freckling, Splenomegaly, Hepatomegaly, Hydrocele testis	OMIM:605309
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Hepatomegaly, Microphthalmia	OMIM:619053
Fanconi Anemia, Complementation Group S	Anemia, Ovarian neoplasm, Ovarian carcinoma, Microphthalmia	OMIM:617883
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Mediasti...	OMIM:619802
Carney Complex	Euthyroid multinodular goiter, Precocious puberty, Leydig cell neoplasia, Sertoli cell neoplasm, ...	ORPHA:1359
Adams-Oliver Syndrome 6	Hepatic fibrosis, Portal hypertension, Splenomegaly	OMIM:616589
Isolated Biliary Atresia	Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Decreased liver fun...	ORPHA:30391
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Anemia, Splenomegaly, Pancytopenia, Hemophagocytosis	OMIM:618398
Braddock-Carey Syndrome 2	Thrombocytopenia, Microphthalmia	OMIM:619981
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Leukemia, Microphthalmia	OMIM:602501
Idiopathic Uveal Effusion Syndrome	Microphthalmia	ORPHA:209956
Immunodeficiency 10	Hypoplasia of the iris, Splenomegaly, Autoimmune hemolytic anemia, Abnormal lymphocyte count, Lym...	OMIM:612783
Farber Lipogranulomatosis	Hepatomegaly, Splenomegaly, Lipogranulomatosis	OMIM:228000
Bresek Syndrome	Decreased testicular size, Optic nerve hypoplasia, Cryptorchidism, Microphthalmia	ORPHA:85284
Gaucher Disease, Type I	Pancytopenia, Hypersplenism, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia	OMIM:230800
Congenital Disorder Of Glycosylation, Type Iq	Microcytic anemia, Elevated circulating hepatic transaminase concentration, Microphthalmia	OMIM:612379
Subaortic Stenosis-Short Stature Syndrome	Microphthalmia, Biliary tract abnormality	ORPHA:3191
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Depletion of mitochondrial DNA in liver, Periportal fibrosis, Hepatic failure, Elevated circulati...	OMIM:251880
Facial Clefting, Oblique, 1	Microphthalmia	OMIM:600251
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Microphthalmia	OMIM:120433
Omenn Syndrome	Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Hepatomegaly, Eosinophilia, Lymphaden...	ORPHA:39041
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Hypogonadotropic hypogonadism, Microphthalmia	ORPHA:1135
Aspartylglucosaminuria	Hepatomegaly, Macroorchidism, Splenomegaly	ORPHA:93
Trichothiodystrophy 3, Photosensitive	Bilateral cryptorchidism, Lymphopenia, Abdominal adhesions, Neutropenia, Microphthalmia	OMIM:616395
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Chole...	ORPHA:264580
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Ambiguous genitalia, Microphthalmia	ORPHA:93267
Fanconi Anemia, Complementation Group E	Pancytopenia, Microphthalmia, Cryptorchidism, Anemia, Reticulocytopenia, Neutropenia, Thrombocyto...	OMIM:600901
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Hypogonadotropic hypogonadism, Microphthalmia	ORPHA:48431
Prolidase Deficiency	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Prolonged neonatal j...	OMIM:170100
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Acute pancreatitis, Recurrent tonsillitis, Lymphadenitis, Lymphopenia, Hepatosplenomegaly, Impair...	OMIM:618935
Developmental And Epileptic Encephalopathy 1	Micropenis, Microphthalmia	OMIM:308350
Congenital Varicella Syndrome	Microphthalmia	ORPHA:291
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia	OMIM:614830
Cataract 9, Multiple Types	Microphthalmia	OMIM:604219
Meckel Syndrome	Accessory spleen, Cryptorchidism, Congenital hepatic fibrosis, True hermaphroditism, Anophthalmia...	ORPHA:564
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Lymphopenia, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly, Autoimmune...	OMIM:616100
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia	OMIM:615771
Microphthalmia, Isolated 5	Microphthalmia	OMIM:611040
Triosephosphate Isomerase Deficiency	Normocytic anemia, Cholelithiasis, Splenomegaly, Macrocytic anemia, Cholecystitis, Prolonged neon...	OMIM:615512
Microphthalmia, Syndromic 5	Ectopic posterior pituitary, Cryptorchidism, Anophthalmia, Microphthalmia, Micropenis, Optic nerv...	OMIM:610125
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Hypogonadism, Decreased testicular size, Splenomegaly, Hepatomegaly	OMIM:201100
Sézary Syndrome	Hepatomegaly, Abnormal lymphocyte morphology, Splenomegaly, Lymphadenopathy	ORPHA:3162
Microphthalmia, Syndromic 13	Microphthalmia	OMIM:300915
Fanconi Anemia, Complementation Group F	Bone marrow hypocellularity, Microphallus, Decreased response to growth hormone stimulation test,...	OMIM:603467
Immunodeficiency With Hyper-Igm, Type 1	Absence of lymph node germinal center, Hepatitis, Chronic hepatitis, Splenomegaly, Sclerosing cho...	OMIM:308230
Fanconi Anemia, Complementation Group A	Pancytopenia, Microphthalmia, Cryptorchidism, Anemia, Reticulocytopenia, Neutropenia, Thrombocyto...	OMIM:227650
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Microphthalmia	OMIM:610023
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:85414
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Hypoplasia of penis, Microphthalmia	ORPHA:2547
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Hepatic fibrosis, Severe B lymphocytopenia, Elevated circulating hepatic transa...	OMIM:620005
Craniotelencephalic Dysplasia	Septo-optic dysplasia, Microphthalmia	ORPHA:1528
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia	OMIM:267760
Immunodeficiency 47	Accessory spleen, Normocytic anemia, Hepatic bridging fibrosis, Hepatic fibrosis, Elevated circul...	OMIM:300972
Drug-Induced Autoimmune Hemolytic Anemia	Splenomegaly, Autoimmune hemolytic anemia	ORPHA:90037
Chediak-Higashi Syndrome	Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Hepatomegaly, Macular hypo...	OMIM:214500
Refsum Disease	Splenomegaly, Microphthalmia	ORPHA:773
Autoimmune Hepatitis	Elevated circulating hepatic transaminase concentration, Viral hepatitis, Ascites, Splenomegaly, ...	ORPHA:2137
Symptomatic Form Of Hfe-Related Hemochromatosis	Portal hypertension, Splenomegaly, Cardiomegaly, Hypogonadotropic hypogonadism, Hepatomegaly, Cir...	ORPHA:465508
Warburg Micro Syndrome 4	Small scrotum, Decreased testicular size, Cryptorchidism, Microphthalmia, Micropenis	OMIM:615663
Familial Hemophagocytic Lymphohistiocytosis	Cholestatic liver disease, Elevated circulating hepatic transaminase concentration, Hemophagocyto...	ORPHA:540
Cryoglobulinemic Vasculitis	Abnormality of the liver, Splenomegaly, Hepatomegaly, Mediastinal lymphadenopathy, Viral hepatitis	ORPHA:91138
Proteus Syndrome	Long penis, Thymus hyperplasia, Neoplasm of the thymus, Splenomegaly, Lymphangioma, Enlarged poly...	ORPHA:744
Fanconi Anemia, Complementation Group C	Bone marrow hypocellularity, Pancytopenia, Microphthalmia, Cryptorchidism, Anemia, Reticulocytope...	OMIM:227645
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Microphthalmia, Bone marrow hypocellularity, Decreased pineal volume	OMIM:301108
Sitosterolemia 1	Stomatocytosis, Giant platelets, Reticulocytosis, Splenomegaly, Episodic hemolytic anemia, Thromb...	OMIM:210250
Mosaic Trisomy 9	Hypoplastic female external genitalia, Abnormality of the uterus, Cryptorchidism, Abnormal fallop...	ORPHA:99776
Trisomy 13	Abnormal morphology of female internal genitalia, Cryptorchidism, Anophthalmia, Displacement of t...	ORPHA:3378
Craniotelencephalic Dysplasia	Optic nerve hypoplasia, Microphthalmia	OMIM:218670
Felty Syndrome	Bone marrow hypocellularity, Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly, Lymphade...	ORPHA:47612
Meckel Syndrome, Type 2	Bile duct proliferation, Microphthalmia	OMIM:603194
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Leukocytosis, Splenomegaly	OMIM:618042
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Cryptorchidism, Anophthalmia, Microphthalmia, Hypoplasia of penis, Hypospadias	ORPHA:77298
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Splenomegaly, Polycyst...	ORPHA:79240
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Hypogonadism, Small scrotum, Cryptorchidism, Microphthalmia	ORPHA:228390
Fanconi Anemia, Complementation Group R	Anemia, Bone marrow hypocellularity, Microphthalmia	OMIM:617244
Cerebrooculofacioskeletal Syndrome 1	Cryptorchidism, Microphthalmia	OMIM:214150
Cerebrooculofacioskeletal Syndrome 2	Micropenis, Small scrotum, Microphthalmia	OMIM:610756
Oculogastrointestinal Neurodevelopmental Syndrome	Vaginal fistula, Unilateral microphthalmos, Bilateral microphthalmos	OMIM:619318
Cat-Eye Syndrome	Microphthalmia	ORPHA:195
Mcleod Syndrome	Elevated circulating aspartate aminotransferase concentration, Acanthocytosis, Splenomegaly, Elev...	OMIM:300842
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatic failure, Pancreatic lymphangiectasis, Ascites, Splenomegaly, Cryptorchidism, Thyroid lymp...	OMIM:235255
Autoimmune Hemolytic Anemia, Warm Type	Chronic lymphatic leukemia, Jaundice, Splenomegaly, Autoimmune hemolytic anemia	ORPHA:90033
Aspartylglucosaminuria	Hepatomegaly, Vacuolated lymphocytes, Macroorchidism, Neutropenia	OMIM:208400
Hemophagocytic Lymphohistiocytosis, Familial, 2	Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Leukopenia, Hepatosple...	OMIM:603553
Moebius Syndrome	Micropenis, Decreased testicular size, Hypogonadotropic hypogonadism, Microphthalmia	OMIM:157900
Hydrolethalus	Abnormal fallopian tube morphology, Cryptorchidism, Anophthalmia, Microphthalmia	ORPHA:2189
Acute Panmyelosis With Myelofibrosis	Bone marrow hypocellularity, Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Acute mye...	ORPHA:86843
Kaposiform Lymphangiomatosis	Hepatosplenomegaly, Splenomegaly, Lymphangioma, Abnormality of the lymphatic system, Abnormal lym...	ORPHA:464329
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated circulating hepatic transaminase concentration, Lymphopenia, Splenomegaly, Hepatomegaly,...	OMIM:617591
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Microphthalmia	ORPHA:324416
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Neutropenia in presence of anti-neutr...	ORPHA:436159
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic...	ORPHA:98849
8P11.2 Deletion Syndrome	Hypogonadism, Azoospermia, Cryptorchidism, Splenomegaly, Hypogonadotropic hypogonadism, Spherocyt...	ORPHA:251066
Adams-Oliver Syndrome	Ascites, Leukopenia, Portal hypertension, Congenital hepatic fibrosis, Cirrhosis, Thrombocytopeni...	ORPHA:974
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatic fibrosis, Periportal fibrosis, Portal hypertension, Splenomegaly, Hepatic cysts, Hepatome...	OMIM:263200
Microphthalmia, Syndromic 11	Agenesis of pineal gland, Microphthalmia	OMIM:614402
Adult-Onset Still Disease	Bone marrow hypocellularity, Elevated circulating hepatic transaminase concentration, Hepatitis, ...	ORPHA:829
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Precocious puberty, Macroorchidism	OMIM:619950
Immunodeficiency 60 And Autoimmunity	Decreased proportion of memory B cells, Pancytopenia, Decreased basophil count, Splenomegaly	OMIM:618394
Osteoporosis-Pseudoglioma Syndrome	Isosexual precocious puberty, Microphthalmia	ORPHA:2788
Sarcoidosis, Susceptibility To, 2	Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly	OMIM:612387
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatic fibrosis, Pancreatic hypoplasia, Hepatitis, Cholestasis, Portal hypertension, Splenic cys...	OMIM:610199
Fanconi Anemia, Complementation Group D2	Bone marrow hypocellularity, Annular pancreas, Leukemia, Pancytopenia, Microphthalmia, Cryptorchi...	OMIM:227646
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Left ventricular hypertrophy, Microphthalmia	OMIM:613153
Meckel Syndrome, Type 4	Bile duct proliferation, Microphthalmia	OMIM:611134
Immunodeficiency 36 With Lymphoproliferation	Lymphopenia, Splenomegaly, Chronic lymphatic leukemia, Increased proportion of transitional B cel...	OMIM:616005
Multiple Benign Circumferential Skin Creases On Limbs	Small scrotum, Abnormal scrotum morphology, Cryptorchidism, Microphthalmia, Hypospadias	ORPHA:2505
Niemann-Pick Disease, Type C1	Fetal ascites, Sea-blue histiocytosis, Splenomegaly, Fatal liver failure in infancy, Prolonged ne...	OMIM:257220
Developmental Delay With Variable Neurologic And Brain Abnormalities	Microphthalmia	OMIM:619694
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Pancreatitis, Splenomegaly	OMIM:207750
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Microphthalmia	OMIM:251270
Microphthalmia, Syndromic 16	Anophthalmia, Microphthalmia	OMIM:611038
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Microphthalmia	ORPHA:1473
Microphthalmia With Brain And Digit Anomalies	Cryptorchidism, Anophthalmia, Microphthalmia	ORPHA:139471
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Stomatocytosis, Splenomegaly, Thrombocytopenia, Hemolytic anemia, Increased mean platelet volume	OMIM:153670
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hemophagocytosis, Leukopenia, Splenomegaly, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Anem...	OMIM:267700
Baraitser-Winter Syndrome 1	Micropenis, Cryptorchidism, Microphthalmia	OMIM:243310
Chronic Granulomatous Disease	Splenomegaly, Hepatomegaly, Abnormality of neutrophils, Mediastinal lymphadenopathy, Liver abscess	ORPHA:379
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Lymphadenitis, Cholest...	OMIM:615895
Warburg Micro Syndrome 3	Small scrotum, Decreased testicular size, Microphthalmia, Micropenis, Hypoplastic labia minora	OMIM:614222
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Microphthalmia	OMIM:613155
Seckel Syndrome 2	Hypospadias, Microphthalmia	OMIM:606744
Temtamy Syndrome	Microphthalmia	ORPHA:1777
Rere-Related Neurodevelopmental Syndrome	Hypospadias, Cryptorchidism, Microphthalmia	ORPHA:494344
Fanconi Anemia, Complementation Group I	Bone marrow hypocellularity, Decreased response to growth hormone stimulation test, Neutropenia, ...	OMIM:609053
Autoinflammation With Arthritis And Dyskeratosis	Hepatomegaly, Splenomegaly, Hypereosinophilia, Autoimmune hemolytic anemia	OMIM:617388
Nodular Non-Suppurative Panniculitis	Hepatomegaly, Splenomegaly	ORPHA:33577
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Lymphopenia, Hepatosplenomegaly, Leukopenia, Cryptorchidism, Splenomegaly, Erythroid hypoplasia, ...	OMIM:612541
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Cryptorchidism, Microphthalmia	OMIM:618494
Autoinflammatory Disease, Systemic, With Vasculitis	Hepatic fibrosis, Parotitis, Cholestasis, Elevated circulating aspartate aminotransferase concent...	OMIM:620376
Linear Skin Defects With Multiple Congenital Anomalies 2	Microphthalmia	OMIM:300887
Lissencephaly 8	Microphthalmia	OMIM:617255
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Cholestatic liver disease, Polysplenia, Exocrine pancreatic insufficiency, Sple...	OMIM:619418
Microphthalmia, Syndromic 9	Multilobulated spleen, Bilateral microphthalmos, Cryptorchidism, Anophthalmia, Hypoplasia of the ...	OMIM:601186
Garg-Mishra Progeroid Syndrome	Microphthalmia, Microvesicular hepatic steatosis	OMIM:620601
Gray Platelet Syndrome	Splenomegaly, Abnormal number of alpha granules, Thrombocytopenia	OMIM:139090
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Optic nerve hypoplasia, Microphthalmia	OMIM:615181
Common Variable Immunodeficiency	Elevated circulating hepatic transaminase concentration, Lymphopenia, Abnormality of the liver, S...	ORPHA:1572
Scheie Syndrome	Hepatomegaly, Splenomegaly	ORPHA:93474
Warburg Micro Syndrome 2	Small scrotum, Cryptorchidism, Hypoplastic labia majora, Microphthalmia, Micropenis	OMIM:614225
Hemophagocytic Syndrome Associated With An Infection	Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Pancytopenia, Abnormal...	ORPHA:158048
Adams-Oliver Syndrome 5	Portal vein thrombosis, Hypersplenism, Right ventricular hypertrophy, Splenomegaly	OMIM:616028
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Stomatocytosis, Splenomegaly, Hepatomegaly, Jaundice, Hemolytic anemia	OMIM:608885
Microphthalmia, Isolated 8	True anophthalmia, Optic nerve hypoplasia, Anophthalmia, Microphthalmia	OMIM:615113
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Decreased response to growth hormone stimulation test, Cryptorchidism, Congenital hypoparathyroid...	OMIM:241410
Baraitser-Winter Syndrome 2	Microphthalmia	OMIM:614583
Primary Sclerosing Cholangitis	Hepatic fibrosis, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Hepati...	ORPHA:171
Hartsfield Syndrome	Microphthalmia	ORPHA:2117
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Lymphadenitis, Impaired oxidative burst, Splenomegaly, Granulomatosis, Lymphadenopathy, Hepatomeg...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Lymphadenitis, Impaired oxidative burst, Splenomegaly, Granulomatosis, Lymphadenopathy, Hepatomeg...	OMIM:233710
Hyperparathyroidism, Neonatal Severe	Anemia, Hepatomegaly, Splenomegaly, Primary hyperparathyroidism	OMIM:239200
Micro Syndrome	Cryptorchidism, Microphthalmia, Hypoplasia of penis, Hypoplastic labia minora, Clitoral hypoplasia	ORPHA:2510
Jacobsen Syndrome	Annular pancreas, Cryptorchidism, Macular hypoplasia, Labial hypoplasia, Thrombocytopenia, Microp...	OMIM:147791
Marden-Walker Syndrome	Micropenis, Hypospadias, Cryptorchidism, Microphthalmia	OMIM:248700
Joubert Syndrome 22	Microphthalmia	OMIM:615665
Meckel Syndrome 14	Hepatic fibrosis, Aplasia of the uterus, Ambiguous genitalia, Microphthalmia	OMIM:619879
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Cryptorchidism, Microphthalmia	ORPHA:404440
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Small scrotum, Cryptorchidism, Microphthalmia	ORPHA:2728
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Lymphadenitis, Impaired oxidative burst, Splenomegaly, Granulomatosis, Lymphadenopathy, Hepatomeg...	OMIM:233690
Frontonasal Dysplasia 1	Microphthalmia	OMIM:136760
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Lymphopenia, Autoimmune hemolytic anemia, Splenomegaly, Reduced red cell adenosine deaminase leve...	OMIM:102700
Microcephaly 20, Primary, Autosomal Recessive	Vaginal atresia, Hypoplasia of the uterus, Optic nerve hypoplasia, Microphthalmia	OMIM:617914
Microphthalmia With Limb Anomalies	Unilateral cryptorchidism, Anophthalmia, Microphthalmia	OMIM:206920
Niemann-Pick Disease, Type C2	Fetal ascites, Sea-blue histiocytosis, Splenomegaly, Hepatomegaly, Prolonged neonatal jaundice, J...	OMIM:607625
Histiocytosis-Lymphadenopathy Plus Syndrome	Pancreatic hypoplasia, Decreased response to growth hormone stimulation test, Cervical lymphadeno...	OMIM:602782
Polycythemia Vera	Acute leukemia, Polycythemia, Leukocytosis, Splenomegaly, Portal hypertension, Portal vein thromb...	ORPHA:729
Chromosome 13Q33-Q34 Deletion Syndrome	Penoscrotal transposition, Bifid scrotum, Cryptorchidism, Left ventricular hypertrophy, Microphth...	OMIM:619148
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Elevated circulating hepatic transaminase concentration, Polycythemia, Micronodular cirrhosis, Ab...	ORPHA:309854
Walker-Warburg Syndrome	Hypoplasia of penis, Cryptorchidism, Anophthalmia, Microphthalmia	ORPHA:899
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Splenomegaly, B lymphocytopenia, Hypochromic microcytic anemia, Schistocytosis	OMIM:616084
Microgastria-Limb Reduction Defect Syndrome	Abnormality of the spleen, Anophthalmia, Perineal fistula, Microphthalmia, Hepatomegaly, Rectovag...	ORPHA:2538
Tetraamelia Syndrome 1	Absent external genitalia, Adrenal gland agenesis, Microphthalmia, Vaginal atresia, Asplenia, Hyp...	OMIM:273395
Kapur-Toriello Syndrome	Micropenis, Hypoplastic labia majora, Cryptorchidism, Microphthalmia	OMIM:244300
Spondylo-Ocular Syndrome	Aplasia/Hypoplasia of the lens, Microphthalmia	ORPHA:85194
Hypocomplementemic Urticarial Vasculitis	Hepatomegaly, Splenomegaly, Ascites, Lymphadenopathy	ORPHA:36412
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos	ORPHA:77299
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Cryptorchidism, Bilateral microphthalmos	ORPHA:369891
Autosomal Recessive Polycystic Kidney Disease	Hepatic fibrosis, Periportal fibrosis, Cholestasis, Ascites, Hepatosplenomegaly, Hypersplenism, P...	ORPHA:731
Gaucher Disease, Type Iiic	Cardiomegaly, Hepatomegaly, Pancytopenia, Splenomegaly	OMIM:231005
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Rieger anomaly, Microphthalmia, Hypoplasia of the iris	OMIM:604229
Tetraamelia-Multiple Malformations Syndrome	Vaginal atresia, Septo-optic dysplasia, Cryptorchidism, Microphthalmia	ORPHA:3301
Fanconi Anemia	Abnormality of the uterus, Hypogonadism, Azoospermia, Leukopenia, Abnormality of the liver, Crypt...	ORPHA:84
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Neutrophilia, Hepatitis, Leukocytosis, Autoimmune hemolytic anemia, Splenomegaly, Monocytosis, He...	OMIM:620565
Ritscher-Schinzel Syndrome 3	Cryptorchidism, Microphthalmia	OMIM:619135
Glycogen Storage Disease Ib	Elevated circulating hepatic transaminase concentration, Splenomegaly, Pancreatitis, Neutropenia,...	OMIM:232220
Meckel Syndrome, Type 1	Accessory spleen, Malformation of the hepatic ductal plate, Abnormality of the uterus, Ambiguous ...	OMIM:249000
Chromosome 1Q41-Q42 Deletion Syndrome	Microphthalmia, Cryptorchidism, Supernumerary nipple	OMIM:612530
Hyperlipoproteinemia, Type Id	Hepatomegaly, Recurrent pancreatitis, Pancreatitis, Splenomegaly	OMIM:615947
Hereditary Orotic Aciduria	Anemia, Splenomegaly	ORPHA:30
Kapur-Toriello Syndrome	Hypoplastic labia majora, Hypoplasia of penis, Microphthalmia	ORPHA:2328
Stromme Syndrome	Accessory spleen, Optic nerve hypoplasia, Microphthalmia	OMIM:243605
Mosaic Trisomy 1	Micropenis, Hepatic agenesis, Penile hypospadias, Microphthalmia	ORPHA:1692
Familial Mediterranean Fever	Leukocytosis, Splenomegaly, Orchitis, Peritonitis, Neutrophilia, Hepatomegaly	OMIM:249100
Porphyria, Congenital Erythropoietic	Cholelithiasis, Splenomegaly, Hepatomegaly, Thrombocytopenia, Reduced erythrocyte uroporphyrinoge...	OMIM:263700
Primary Biliary Cholangitis	Hepatic fibrosis, Hepatic failure, Biliary cirrhosis, Hepatitis, Ascites, Portal hypertension, Sp...	ORPHA:186
Ring Chromosome 10 Syndrome	Microphthalmia	ORPHA:1438
Gaucher Disease, Type Ii	Anemia, Hepatomegaly, Splenomegaly, Thrombocytopenia	OMIM:230900
Solitary Median Maxillary Central Incisor	Decreased response to growth hormone stimulation test, Anterior hypopituitarism, Anophthalmia, Mi...	OMIM:147250
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Hypogonadism, External genital hypoplasia, Cryptorchidism, Anophthalmia, Microphthalmia, Hypoplas...	ORPHA:2250
Adams-Oliver Syndrome 2	Microphthalmia	OMIM:614219
Martsolf Syndrome 1	Micropenis, Hypogonadotropic hypogonadism, Cryptorchidism, Microphthalmia	OMIM:212720
Tyrosinemia, Type I	Hepatic failure, Elevated circulating hepatic transaminase concentration, Ascites, Acute hepatic ...	OMIM:276700
Frontonasal Dysplasia 3	Microphthalmia	OMIM:613456
17Q12 Microduplication Syndrome	Microphthalmia	ORPHA:261272
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Microphthalmia	OMIM:614105
Hyperlipoproteinemia, Type I	Jaundice, Hepatosplenomegaly, Acute pancreatitis, Splenomegaly	OMIM:238600
Encephalocraniocutaneous Lipomatosis	Hypoplasia of the iris, Cryptorchidism, Microphthalmia	OMIM:613001
Microphthalmia, Syndromic 3	Optic nerve aplasia, Cryptorchidism, Anophthalmia, Hypogonadotropic hypogonadism, Anterior pituit...	OMIM:206900
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Microphthalmia	OMIM:152950
Monosomy 18P	Microphthalmia	ORPHA:1598
Congenital Muscular Dystrophy With Cerebellar Involvement	Optic nerve hypoplasia, Microphthalmia	ORPHA:370959
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Optic nerve hypoplasia, Microphthalmia	OMIM:614833
Hardikar Syndrome	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Porta...	OMIM:301068
Lipodystrophy, Congenital Generalized, Type 2	Clitoral hypertrophy, Elevated circulating hepatic transaminase concentration, Labial hypertrophy...	OMIM:269700
Cockayne Syndrome B	Hypoplasia of the iris, Splenomegaly, Cryptorchidism, Hepatomegaly, Microphthalmia, Micropenis	OMIM:133540
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Microphthalmia	ORPHA:163649
Fryns Syndrome	Hypospadias, Bifid scrotum, Polysplenia, Cryptorchidism, Shawl scrotum, Microphthalmia, Bicornuat...	OMIM:229850
Myoclonic-Astatic Epilepsy	Microphthalmia	ORPHA:1942
Temtamy Syndrome	Microphthalmia	OMIM:218340
Cohen Syndrome	Cryptorchidism, Neutropenia, Microphthalmia	ORPHA:193
Nance-Horan Syndrome	Microphthalmia	ORPHA:627
Fanconi Anemia, Complementation Group L	Bone marrow hypocellularity, Aplasia of the uterus, Anemia, Microphthalmia, Micropenis	OMIM:614083
Granulomatous Disease, Chronic, X-Linked	Lymphadenitis, Ascites, Impaired oxidative burst, Splenomegaly, Granulomatosis, Lymphadenopathy, ...	OMIM:306400
Autosomal Dominant Keratitis	Bilateral microphthalmos, Aniridia, Hypoplasia of the fovea, Macular hypoplasia, Hypoplastic iris...	ORPHA:2334
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia	OMIM:167730
Syndromic Diarrhea	Hepatic fibrosis, Lymphopenia, Abnormality of the liver, Splenomegaly, Hypoplasia of the thymus, ...	ORPHA:84064
Basel-Vanagaite-Smirin-Yosef Syndrome	Cholelithiasis, Hypospadias, Male urethral meatus stenosis, Microphthalmia	ORPHA:464738
Lipodystrophy, Congenital Generalized, Type 1	Clitoral hypertrophy, Elevated circulating hepatic transaminase concentration, Labial hypertrophy...	OMIM:608594
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Lens coloboma, Microphthalmia	OMIM:618914
8Q21.11 Microdeletion Syndrome	Hypoplasia of penis, Cryptorchidism, Microphthalmia	ORPHA:284160
Microphthalmia, Lenz Type	Hypospadias, Cryptorchidism, Microphthalmia	ORPHA:568
Sandestig-Stefanova Syndrome	Microphthalmia	OMIM:618804
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Abnormally large globe, Microphthalmia	OMIM:615249
Microphthalmia, Isolated, With Corectopia	Microphthalmia	OMIM:156900
Familial Tumoral Calcinosis	Hepatomegaly, Splenomegaly	ORPHA:53715
Ohdo Syndrome, X-Linked	Small scrotum, Cryptorchidism, Shawl scrotum, Microphthalmia, Micropenis	OMIM:300895
Basel-Vanagaite-Smirin-Yosef Syndrome	Clitoral hypertrophy, Hypospadias, Microphthalmia	OMIM:616449
Holoprosencephaly	Panhypopituitarism, Abnormality of the spleen, Cryptorchidism, Anophthalmia, Microphthalmia, Hypo...	ORPHA:2162
Congenital Primary Aphakia	Aniridia, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Phthi...	ORPHA:83461
Chromosome 8Q21.11 Deletion Syndrome	Micropenis, Cryptorchidism, Microphthalmia	OMIM:614230
Histiocytoid Cardiomyopathy	Microphthalmia, Polycystic ovaries, Cardiomegaly, Congenital aphakia, Hepatomegaly	ORPHA:137675
Pseudotrisomy 13 Syndrome	Micropenis, Bicornuate uterus, Cryptorchidism, Microphthalmia	OMIM:264480
Degcags Syndrome	Cholestasis, Hepatosplenomegaly, Pancytopenia, Leukopenia, Cryptorchidism, Hepatomegaly, Chordee,...	OMIM:619488
Bartsocas-Papas Syndrome 2	Microphthalmia	OMIM:619339
Fraser Syndrome 2	Hypoplasia of the thymus, Ambiguous genitalia, Microphthalmia	OMIM:617666
Reynolds Syndrome	Biliary cirrhosis, Elevated circulating hepatic transaminase concentration, Cholestasis, Lymphope...	OMIM:613471
Kikuchi-Fujimoto Disease	Elevated circulating hepatic transaminase concentration, Abnormal lymph node morphology, Cervical...	ORPHA:50918
Kenny-Caffey Syndrome, Type 2	Hypoparathyroidism, Anemia, Microphthalmia	OMIM:127000
Treacher-Collins Syndrome	Small scrotum, Cryptorchidism, Hypoplasia of the thymus, Microphthalmia, Hypoplasia of penis, Rec...	ORPHA:861
Dubowitz Syndrome	Aplastic anemia, Hypoplasia of the iris, Cryptorchidism, Microphthalmia, Acute lymphoblastic leuk...	OMIM:223370
Stevenson-Carey Syndrome	Microphthalmia	OMIM:611961
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Microphthalmia	OMIM:300863
Manitoba Oculotrichoanal Syndrome	Vaginal atresia, Anophthalmia, Microphthalmia	OMIM:248450
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Microphthalmia, Supernumerary nipple	OMIM:620098
Frontonasal Dysplasia 2	Microphthalmia, Bilateral cryptorchidism	OMIM:613451
Incontinentia Pigmenti	Supernumerary nipple, Breast aplasia, Breast hypoplasia, Leukocytosis, Hypoplasia of the fovea, H...	OMIM:308300
Fryns Syndrome	Bicornuate uterus, Hypospadias, Cryptorchidism, Microphthalmia	ORPHA:2059
Vacterl With Hydrocephalus	Abnormal fallopian tube morphology, Cryptorchidism, Anophthalmia, Microphthalmia	ORPHA:3412
Anterior Segment Dysgenesis 2	Microphthalmia, Aniridia, Anterior segment of eye aplasia, Congenital aphakia	OMIM:610256
Rothmund-Thomson Syndrome, Type 2	Hypogonadism, Annular pancreas, Cryptorchidism, Microphthalmia	OMIM:268400
Hallermann-Streiff Syndrome	Cryptorchidism, Abdominal situs inversus, Microphthalmia	ORPHA:2108
Otodental Syndrome	Lens coloboma, Microphthalmia	ORPHA:2791
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Buphthalmos, Microphthalmia	OMIM:212550
Cornea Plana 2, Autosomal Recessive	Microphthalmia	OMIM:217300
Anterior Segment Dysgenesis 7	Buphthalmos, Microphthalmia	OMIM:269400
Holoprosencephaly-Postaxial Polydactyly Syndrome	Hypospadias, Cryptorchidism, Ambiguous genitalia, Microphthalmia, Hypoplasia of penis, Thyroid hy...	ORPHA:2166
Ectodermal Dysplasia And Immunodeficiency 2	Aplasia of the sweat glands, Hepatomegaly, Splenomegaly	OMIM:612132
Chronic Visceral Acid Sphingomyelinase Deficiency	Cholelithiasis, Hepatic failure, Decreased liver function, Hypersplenism, Splenomegaly, Hepatomeg...	ORPHA:77293
Frontofacionasal Dysplasia	Microphthalmia	ORPHA:1791
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Uterus didelphys, Septate vagina, Absent gallbladder, Microphthalmia, Micropenis	OMIM:617925
Steinfeld Syndrome	Absent gallbladder, Microphthalmia	OMIM:184705
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Precocious puberty, Hypospadias, Anophthalmia, Microphthalmia	OMIM:615877
3P25.3 Microdeletion Syndrome	Microphthalmia	ORPHA:435638
Fanconi Anemia, Complementation Group N	Acute myeloid leukemia, Aplastic anemia, Microphthalmia	OMIM:610832
Pallister-Hall Syndrome	Precocious puberty, Decreased response to growth hormone stimulation test, Decreased testicular s...	OMIM:146510
Chromosome 17Q12 Duplication Syndrome	Microphthalmia	OMIM:614526
Autosomal Dominant Kenny-Caffey Syndrome	Anemia, Decreased testicular size, Congenital hypoparathyroidism, Bilateral microphthalmos	ORPHA:93325
Atelis Syndrome 2	Anemia, Thrombocytopenia, Microphthalmia	OMIM:620185
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Microphthalmia	ORPHA:163966
Heart And Brain Malformation Syndrome	Microphthalmia	OMIM:616920
Rodrigues Blindness	Microphthalmia	OMIM:268320
Bosma Arhinia Microphthalmia Syndrome	Cryptorchidism, Hypogonadotropic hypogonadism, Hypoplastic labia majora, Microphthalmia, Micropen...	OMIM:603457
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Cryptorchidism, Microphthalmia, Buphthalmos, Hypoplastic male external genitalia, Optic nerve hyp...	OMIM:236670
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Absent nipple, Aplasia of the thymus, Hypoplastic nipples, Microphthalmia, Prolonged neonatal jau...	OMIM:620186
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia	OMIM:305390
22Q11.2 Deletion Syndrome	Cholelithiasis, Abnormality of the uterus, Cryptorchidism, Splenomegaly, Hypoplasia of the thymus...	ORPHA:567
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Bilateral microphthalmos, Optic nerve hypoplasia	OMIM:607597
Pelvis-Shoulder Dysplasia	Microphthalmia	OMIM:169550
Cockayne Syndrome Type 3	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly, Microphthalmia	ORPHA:90324
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Increased hepatic echogenicity, Microphthalmia	OMIM:608940
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microphthalmia	ORPHA:231736
Nasopalpebral Lipoma-Coloboma Syndrome	Bilateral microphthalmos, Microphthalmia	ORPHA:2399
Cat Eye Syndrome	Microphthalmia, Biliary atresia	OMIM:115470
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Hypospadias, Cryptorchidism, Annular pancreas, Microphthalmia	OMIM:616975
Vitreoretinochoroidopathy	Microphthalmia	OMIM:193220
Joubert Syndrome 2	Hypoplastic male external genitalia, Microphthalmia	OMIM:608091
1Q21.1 Microdeletion Syndrome	Cryptorchidism, Microphthalmia	ORPHA:250989
Curry-Jones Syndrome	Microphthalmia	ORPHA:1553
Trichothiodystrophy	Increased mean corpuscular hemoglobin concentration, Bilateral microphthalmos, Gonadal dysgenesis...	ORPHA:33364
Linear Skin Defects With Multiple Congenital Anomalies 1	Clitoral hypertrophy, Ovotestis, Chordee, Microphthalmia, Micropenis, Hypoplasia of the uterus, H...	OMIM:309801
Trichothiodystrophy 1, Photosensitive	Hypogonadism, Microphthalmia	OMIM:601675
Joubert Syndrome 14	Microphthalmia	OMIM:614424
Roberts Syndrome	Clitoral hypertrophy, Long penis, Cryptorchidism, Thrombocytopenia, Microphthalmia	ORPHA:3103
Skin Creases, Congenital Symmetric Circumferential, 1	Hypoplastic nipples, Microphthalmia	OMIM:156610
Fetal Alcohol Syndrome	Microphthalmia	ORPHA:1915
3Q29 Microdeletion Syndrome	Hypospadias, Microphthalmia	ORPHA:65286
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Mosaic Variegated Aneuploidy Syndrome	Ascites, Vaginal neoplasm, Ambiguous genitalia, Microphthalmia, Acute lymphoblastic leukemia	ORPHA:1052
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Microphthalmia	OMIM:617306
Xeroderma Pigmentosum, Complementation Group B	Hypogonadism, Microphthalmia	OMIM:610651
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Ambiguous genitalia, Cryptorchidism, Microphthalmia	OMIM:616300
2Q31.1 Microdeletion Syndrome	Cryptorchidism, Microphthalmia	ORPHA:251014
Bartsocas-Papas Syndrome 1	Absent external genitalia, Bilateral cryptorchidism, Hypoplastic labia majora, Ambiguous genitali...	OMIM:263650
Oculofaciocardiodental Syndrome	Microphthalmia	ORPHA:2712
Hydrolethalus Syndrome 1	Accessory spleen, Abnormal vagina morphology, Adrenal gland dysgenesis, Microphthalmia, Bifid ute...	OMIM:236680
Cockayne Syndrome	Elevated circulating hepatic transaminase concentration, Splenomegaly, Cryptorchidism, Microphtha...	ORPHA:191
Microphthalmia With Linear Skin Defects Syndrome	Abnormal penis morphology, Clitoral hypertrophy, Anophthalmia, Male pseudohermaphroditism, Ambigu...	ORPHA:2556
Familial Exudative Vitreoretinopathy	Microphthalmia	ORPHA:891
Microphthalmia/Coloboma 9	Microphthalmia	OMIM:615145
Trisomy 18	Microphthalmia, Cryptorchidism, Abnormal morphology of female internal genitalia	ORPHA:3380
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microphthalmia	OMIM:618571
Trichothiodystrophy 4, Nonphotosensitive	Microphthalmia	OMIM:234050
X-Linked Dominant Chondrodysplasia Punctata	Microphthalmia	ORPHA:35173
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Buphthalmos, Microphthalmia	OMIM:616538
Oculotrichoanal Syndrome	Anophthalmia, Microphthalmia	ORPHA:2717
Cousin Syndrome	Ambiguous genitalia, male, Ambiguous genitalia, female, Microphthalmia	OMIM:260660
Blepharophimosis, Ptosis, And Epicanthus Inversus	Increased circulating gonadotropin level, Hypoplasia of the uterus, Microphthalmia	OMIM:110100
Hallermann-Streiff Syndrome	Cryptorchidism, Microphthalmia	OMIM:234100
Frontorhiny	Hypopituitarism, Microphthalmia	ORPHA:391474
Cerebrooculofacioskeletal Syndrome 4	Bilateral microphthalmos	OMIM:610758
Incontinentia Pigmenti	Microphthalmia, Eosinophilia, Supernumerary nipple	ORPHA:464
3Q29 Microduplication Syndrome	Aniridia, Microphthalmia	ORPHA:251038
Pelvis-Shoulder Dysplasia	Ambiguous genitalia, Bilateral microphthalmos	ORPHA:2839
Ectodermal Dysplasia-Blindness Syndrome	Microphthalmia	ORPHA:1806
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Exocrine pancreatic insufficiency, Optic nerve hypoplasia, Hypospadias, Microphthalmia	ORPHA:508498
Aicardi Syndrome	Precocious puberty, Hepatoblastoma, Microphthalmia	ORPHA:50
Microphthalmia/Coloboma 12	Optic nerve aplasia, Microphthalmia	OMIM:120200
Linear Skin Defects With Multiple Congenital Anomalies 3	Thyroid C cell hyperplasia, Microphthalmia	OMIM:300952
Oculodentodigital Dysplasia, Autosomal Recessive	Microphthalmia	OMIM:257850
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Absent gallbladder, Microphthalmia	ORPHA:3186
Focal Dermal Hypoplasia	Acute hepatic failure, Hypoplasia of the iris, Microphthalmia	ORPHA:2092
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Bifid scrotum, Cryptorchidism, Microphthalmia, Micropenis, Hypospadias, Clitoral hypoplasia	OMIM:609945
Phace Association	Microphthalmia, Optic nerve hypoplasia, Lingual thyroid	OMIM:606519
Norrie Disease	Hypoplasia of the iris, Buphthalmos, Microphthalmia	OMIM:310600
Oculocerebrorenal Syndrome Of Lowe	Hyperparathyroidism, Azoospermia, Cryptorchidism, Thrombocytopenia, Microphthalmia, Anemia, Bupht...	ORPHA:534
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Microphthalmia	ORPHA:1352
Monosomy 9P	Ambiguous genitalia, Hypospadias, Cryptorchidism, Microphthalmia	ORPHA:261112
Chondrodysplasia Punctata 2, X-Linked Dominant	Microphthalmia	OMIM:302960
Aicardi Syndrome	Precocious puberty, Hepatoblastoma, Microphthalmia	OMIM:304050
Nance-Horan Syndrome	Microphthalmia	OMIM:302350
Persistent Hyperplastic Primary Vitreous	Phthisis bulbi, Macular hypoplasia, Buphthalmos, Microphthalmia	ORPHA:91495
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Microphthalmia, Supernumerary nipple	ORPHA:1236
Skin Creases, Congenital Symmetric Circumferential, 2	Small scrotum, Hypospadias, Cryptorchidism, Microphthalmia	OMIM:616734
Charge Syndrome	Parathyroid hypoplasia, Aplasia/Hypoplasia of the thymus, Decreased response to growth hormone st...	OMIM:214800
Oculopalatocerebral Syndrome	Microphthalmia	OMIM:257910
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Microphthalmia	OMIM:253800
Basal Cell Nevus Syndrome 1	Ovarian fibroma, Ovarian carcinoma, Microphthalmia	OMIM:109400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Buphthalmos, Microphthalmia	OMIM:613150
Microcephaly-Micromelia Syndrome	Microphthalmia	OMIM:251230
Duane-Radial Ray Syndrome	Optic disc hypoplasia, Microphthalmia	OMIM:607323
Galloway-Mowat Syndrome 1	Hypoplasia of the iris, Microphthalmia	OMIM:251300
Holoprosencephaly 9	Anterior pituitary agenesis, Decreased response to growth hormone stimulation test, Panhypopituit...	OMIM:610829
Fraser Syndrome 1	Clitoral hypertrophy, Bilateral microphthalmos, Cryptorchidism, Anophthalmia, Micropenis, Abnorma...	OMIM:219000
Chromosome 13Q14 Deletion Syndrome	Micropenis, Microphthalmia, Cryptorchidism, Supernumerary nipple	OMIM:613884
Roberts-Sc Phocomelia Syndrome	Accessory spleen, Clitoral hypertrophy, Long penis, Enlarged labia minora, Cryptorchidism, Biliar...	OMIM:268300
Galloway-Mowat Syndrome 3	Microphthalmia	OMIM:617729
Mend Syndrome	Cryptorchidism, Microphthalmia	ORPHA:401973
Monosomy 9Q22.3	Ovarian fibroma, Microphthalmia	ORPHA:77301
Fraser Syndrome	Small scrotum, Abnormal vagina morphology, Female pseudohermaphroditism, Cryptorchidism, Anophtha...	ORPHA:2052
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Microphthalmia	OMIM:618727
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Phthisis bulbi, Buphthalmos, Microphthalmia	OMIM:221900
Yunis-Varon Syndrome	Clitoral hypertrophy, Bilateral microphthalmos, Cryptorchidism, Cardiomegaly, Hypoplastic labia m...	ORPHA:3472
Premature Aging Syndrome, Penttinen Type	Microphthalmia	OMIM:601812
Microphthalmia With Limb Anomalies	True anophthalmia, Cryptorchidism, Microphthalmia	ORPHA:1106
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Optic nerve hypoplasia, Microphthalmia	OMIM:614643
Papillorenal Syndrome	Microphthalmia	OMIM:120330
Fontaine Progeroid Syndrome	Small scrotum, Absent nipple, Cryptorchidism, Hypoplastic labia majora, Hypoplastic nipples, Left...	OMIM:612289
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Microphallus, Bilateral microphthalmos, Cryptorchidism, Hypospadias, Optic nerve hypoplasia	ORPHA:468631
Pallister-Hall Syndrome	Precocious puberty, Small scrotum, Secondary growth hormone deficiency, Aplasia/Hypoplasia of the...	ORPHA:672
Charge Syndrome	Bifid scrotum, Abnormal morphology of female internal genitalia, Cryptorchidism, Anophthalmia, Hy...	ORPHA:138
Oculoauricular Syndrome	Macular hypoplasia, Microphakia, Phthisis bulbi, Microphthalmia	OMIM:612109
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Leukemia, Anophthalmia, Microphthalmia	ORPHA:2526
Xeroderma Pigmentosum, Complementation Group D	Microphthalmia	OMIM:278730
Microphthalmia, Syndromic 2	Septate vagina, Cryptorchidism, Anophthalmia, Phthisis bulbi, Microphthalmia, Hypospadias	OMIM:300166
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Microphthalmia	ORPHA:85167
Momo Syndrome	Bilateral microphthalmos	ORPHA:2563
Linear Nevus Sebaceus Syndrome	Microphthalmia, Adenoma sebaceum	ORPHA:2612
Myhre Syndrome	Cryptorchidism, Microphthalmia	OMIM:139210
Renpenning Syndrome 1	Decreased testicular size, Hypospadias, Phimosis, Microphthalmia	OMIM:309500
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Microphthalmia	ORPHA:364577
Teebi-Shaltout Syndrome	Microphthalmia	OMIM:272950
Pierson Syndrome	Hypoplasia of the iris, Rieger anomaly, Macular hypoplasia, Hypoplasia of the ciliary body, Micro...	OMIM:609049
Curry-Jones Syndrome	Microphthalmia	OMIM:601707
Focal Dermal Hypoplasia	Supernumerary nipple, Aniridia, Cryptorchidism, Anophthalmia, Hypoplastic nipples, Labial hypopla...	OMIM:305600
Lymphedema-Distichiasis Syndrome	Microphthalmia	OMIM:153400
Phace Syndrome	Microphthalmia, Lens coloboma, Optic nerve hypoplasia, Ectopic thyroid	ORPHA:42775
Acro-Renal-Ocular Syndrome	Optic disc hypoplasia, Microphthalmia	ORPHA:959
Oculodentodigital Dysplasia	Microphthalmia	OMIM:164200
Branchiooculofacial Syndrome	Supernumerary nipple, Ectopic thymus tissue, Cryptorchidism, Anophthalmia, Microphthalmia, Duplic...	OMIM:113620
Mycophenolate Mofetil Embryopathy	Microphthalmia	ORPHA:268249
Holoprosencephaly 7	Panhypopituitarism, Bilateral microphthalmos, Microphthalmia	OMIM:610828
Proboscis Lateralis	External genital hypoplasia, Optic nerve hypoplasia, Anophthalmia, Microphthalmia	ORPHA:141099
Acrofrontofacionasal Dysostosis 1	Microphthalmia	OMIM:201180
Oculo-Palato-Cerebral Syndrome	Microphthalmia	ORPHA:2714
Townes-Brocks Syndrome	Abnormal vagina morphology, Abnormality of the uterus, Bifid scrotum, Cryptorchidism, Rectoperine...	ORPHA:857
Treacher Collins Syndrome 1	Bilateral microphthalmos, Cryptorchidism, Abnormal parotid gland morphology	OMIM:154500
Witteveen-Kolk Syndrome	Microphallus, Male urethral meatus stenosis, Decreased response to growth hormone stimulation tes...	OMIM:613406
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Webbed penis, Bifid scrotum, Septate vagina, Cryptorchidism, Chordee, Microphthalmia, Micropenis,...	ORPHA:261537
Microphthalmia, Syndromic 6	Small scrotum, Cryptorchidism, Anophthalmia, Microphthalmia, Female hypogonadism, Anterior hypopi...	OMIM:607932
Neu-Laxova Syndrome 1	Bifid uterus, Cryptorchidism, Microphthalmia	OMIM:256520
Adams-Oliver Syndrome 1	Microphthalmia, Imperforate hymen, Supernumerary nipple	OMIM:100300
Isolated Arrhinia	Microphthalmia	ORPHA:1134
Traboulsi Syndrome	Microphthalmia	OMIM:601552
Mowat-Wilson Syndrome	Webbed penis, Bifid scrotum, Septate vagina, Cryptorchidism, Chordee, Microphthalmia, Micropenis,...	ORPHA:2152
Lowe Oculocerebrorenal Syndrome	Cryptorchidism, Microphthalmia	OMIM:309000
Norrie Disease	Uterine rupture, Hypoplasia of the iris, Cryptorchidism, Aplasia/Hypoplasia of the lens, Micropht...	ORPHA:649
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Webbed penis, Bifid scrotum, Septate vagina, Cryptorchidism, Chordee, Microphthalmia, Micropenis,...	ORPHA:261552
Mowat-Wilson Syndrome	Bifid scrotum, Supernumerary nipple, Cryptorchidism, Microphthalmia, Hypospadias	OMIM:235730
Osteoporosis-Pseudoglioma Syndrome	Phthisis bulbi, Microphthalmia	OMIM:259770
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Microphthalmia	OMIM:608670
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hypoplasia of the iris, Hemolytic anemia, Microphthalmia	OMIM:175780
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Buphthalmos, Hypoplasia of the retina, Microphthalmia	OMIM:253280
8Q24.3 Microdeletion Syndrome	Ectopic posterior pituitary, Exocrine pancreatic insufficiency, Bilateral microphthalmos, Optic n...	ORPHA:508488
Holoprosencephaly 1	Micropenis, Microphthalmia	OMIM:236100
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Microphthalmia	OMIM:612474
Monosomy 13Q14	Microphthalmia	ORPHA:1587
Frontofacionasal Dysplasia	Microphthalmia	OMIM:229400
Neuroocular Syndrome 1	Hypoplasia of the fovea, Lens coloboma, Microphthalmia	OMIM:619539
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Microphthalmia	ORPHA:306542
Holoprosencephaly 2	Anterior pituitary agenesis, Microphthalmia	OMIM:157170
Microphthalmia, Syndromic 1	Hypospadias, Cryptorchidism, Anophthalmia, Microphthalmia	OMIM:309800
Craniofacial Microsomia 1	Anophthalmia, Microphthalmia	OMIM:164210
Systemic Lupus Erythematosus 16		OMIM:614420

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 Dnase1l3

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 Dnase1l3.

There are 2 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Deficiency of macrophage-derived Dnase1L3 causes lupus-like phenotypes in mice.	Journal of leukocyte biology (November 2023)	Dnase1l3^em1(IMPC)Mbp	37804110
Epistatic Interactions Between Mutations of Deoxyribonuclease 1-Like 3 and the Inhibitory Fc Gamma Receptor IIB Result in Very Early and Massive Autoantibodies Against Double-Stranded DNA.	Frontiers in Immunology (July 2018)	Dnase1l3^{tm1a(KOMP)Wtsi}	PMC6041390

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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
Dnase1l3^em1(IMPC)Mbp	Exon Deletion	Mice, Tissue
Dnase1l3^{tm42548(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Dnase1l3^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Dnase1l3^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

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: Dnase1l3 MGI:1314633

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

Human diseases caused by Dnase1l3 mutations

Histopathology

IMPC related publications

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Access Data Release 21.1 Data