banner
Genes Phenotypes Help, News, Blog

Gene: Gpatch3 MGI:2442492

Log in to follow

Gene Summary

Name:
G patch domain containing 3
Synonyms:
D930035B09Rik,  Gpatc3

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal spleen morphology Gpatch3em1(IMPC)Mbp HOM Early adult 0.00
microphthalmia Gpatch3em1(IMPC)Mbp HOM Early adult 0.00
small spleen Gpatch3em1(IMPC)Mbp HOM Early adult 0.00
blind uterus Gpatch3em1(IMPC)Mbp HOM Early adult 0.00
abnormal eye morphology Gpatch3em1(IMPC)Mbp HOM Early adult 0.00
enlarged spleen Gpatch3em1(IMPC)Mbp HOM Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

35 Images

View images
X-ray

XRay Images Whole Body Lateral Orientation

13 Images

View images

Human diseases caused by Gpatch3 mutations

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

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

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

The table below shows human diseases predicted to be associated to Gpatch3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
Tuftsin Deficiency
Abnormality of the spleen OMIM:191150
Fetal Cytomegalovirus Syndrome
Splenomegaly, Hepatomegaly, Anemia ORPHA:294
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly OMIM:619813
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia ORPHA:46532
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia OMIM:206400
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia, Hepatomegaly ORPHA:2432
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Immunodeficiency 16
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia OMIM:615593
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Hepatomegaly, Lymphocytosis OMIM:606445
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly OMIM:619175
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery... OMIM:603902
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Microphthalmia, Isolated, With Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Gombo Syndrome
Microphthalmia OMIM:233270
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... OMIM:133180
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... OMIM:237800
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Encephalopathy Due To Prosaposin Deficiency
Splenomegaly, Hepatomegaly ORPHA:139406
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... ORPHA:444463
Microphthalmia, Isolated 4
Microphthalmia, Absent testis OMIM:613094
Tyrosinemia Type 1
Splenomegaly, Hepatomegaly, Hepatocellular carcinoma ORPHA:882
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Reticulocytosis, Intermittent jaundice OMIM:179700
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Splenomegaly, Hepatomegaly, Fetal ascites OMIM:619462
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Immunodeficiency 104
Splenomegaly, Hepatomegaly, T lymphocytopenia, Lymphadenopathy OMIM:608971
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy OMIM:618852
Ceroid storage disease
Abnormality of the spleen OMIM:214200
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Trimethylaminuria
Splenomegaly, Anemia, Neutropenia OMIM:602079
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Splenomegaly, Unilateral microphthalmos, Anemia, Thrombocytopenia OMIM:615085
Fanconi Anemia, Complementation Group G
Anemia, Neutropenia, Microphthalmia, Leukemia, Thrombocytopenia OMIM:614082
Immunodeficiency 84
Splenomegaly, B lymphocytopenia OMIM:619437
Hypereosinophilic Syndrome, Idiopathic
Splenomegaly, Hepatomegaly, Eosinophilia, Myeloproliferative disorder OMIM:607685
Portal Hypertension, Noncirrhotic, 1
Splenomegaly, Hepatomegaly, Portal hypertension OMIM:617068
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Anophthalmia, Bilateral microphthalmos OMIM:611638
Sea-Blue Histiocyte Disease
Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis OMIM:269600
Immunodeficiency 42
Splenomegaly, Hepatomegaly, Hypoplasia of the thymus OMIM:616622
Congenital Toxoplasmosis
Hepatomegaly, Cardiomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Microphthalmia, Ascites,... ORPHA:858
Gracile Bone Dysplasia
Asplenia, Micropenis, Aniridia, Microphthalmia, Hypoplastic spleen, Ascites OMIM:602361
Hypertriglyceridemia, Transient Infantile
Splenomegaly, Hepatomegaly, Hepatic fibrosis, Hepatic steatosis OMIM:614480
Nanophthalmos
Microphthalmia ORPHA:35612
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis ORPHA:66661
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... OMIM:615285
Splenoportal Vascular Anomalies
Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites OMIM:271500
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... ORPHA:846
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis OMIM:224100
Immunodeficiency 48
Absence of CD8-positive T cells, Hepatomegaly, Splenomegaly OMIM:269840
Immunodeficiency 69
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia OMIM:618963
Microphthalmia, Isolated 2
Microphthalmia OMIM:610093
Fanconi Anemia, Complementation Group J
Microphthalmia, Bone marrow hypocellularity OMIM:609054
Neonatal Severe Primary Hyperparathyroidism
Splenomegaly, Hepatomegaly ORPHA:417
Galactose Epimerase Deficiency
Splenomegaly, Hepatomegaly, Jaundice ORPHA:79238
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia, Bicornuate uterus, Cryptorchidism OMIM:615524
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Nanophthalmos 4
Microphthalmia OMIM:615972
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Matthew-Wood Syndrome
Anophthalmia, Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Abnormal spleen morphology, Abn... ORPHA:2470
Biemond Syndrome Type 2
Hypogonadism, Microphthalmia, Hypogonadotropic hypogonadism, Hypospadias ORPHA:141333
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Hemochromatosis, Type 2B
Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hypogonadism, Cirrhosis, Anemia OMIM:613313
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia, Hypogonadism ORPHA:2528
Mmep Syndrome
Microphthalmia, Cryptorchidism ORPHA:3434
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia OMIM:610092
Galactosemia Iii
Splenomegaly, Hepatomegaly, Jaundice OMIM:230350
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:86893
Immunodeficiency 76
Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia OMIM:619164
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... OMIM:617514
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Hepatomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia... OMIM:614470
B-Cell Expansion With Nfkb And T-Cell Anergy
Splenomegaly, Increased B cell count OMIM:616452
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Thr... OMIM:603552
Cholestasis, Progressive Familial Intrahepatic, 12
Splenomegaly, Hepatomegaly, Jaundice, Cholestasis OMIM:620010
Alpha-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Lymphadenopathy, Ascites, Anemia ORPHA:100025
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt... OMIM:615513
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Anemia ORPHA:100024
Gray Platelet Syndrome
Splenomegaly, Thrombocytopenia ORPHA:721
Ghosal Hematodiaphyseal Dysplasia
Splenomegaly, Anemia ORPHA:1802
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... OMIM:615631
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Azoospermia, Hypogonadism, Poikilo... OMIM:615234
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... OMIM:612690
Congenital Rubella Syndrome
Hepatomegaly, Splenomegaly, Jaundice, Aplasia/Hypoplasia of the iris, Anemia, Microphthalmia, Thr... ORPHA:290
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia OMIM:610539
Congenital Fibrinogen Deficiency
Hemorrhagic ovarian cyst, Splenic rupture, Left ventricular hypertrophy, Microphthalmia, Micropen... ORPHA:335
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Congenital Bile Acid Synthesis Defect Type 1
Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, Cirrhosis, Neonatal cholestatic ... ORPHA:79301
Thrombocythemia 1
Splenomegaly, Thrombocytosis OMIM:187950
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia OMIM:616570
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula... OMIM:616860
Follicular Lymphoma
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:545
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Splenomegaly, Jaundice, Cholestasis, Hepatic fibrosis, Hepatic bridging fibrosis OMIM:619658
Progressive Familial Intrahepatic Cholestasis
Splenomegaly, Hepatomegaly, Jaundice, Cholestasis ORPHA:172
Hemochromatosis, Type 2A
Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Azoospermia, Cirrhosis OMIM:602390
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... OMIM:619849
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Microcytic anemia, Microphthalmia, Hepatic steatosis, Pancreatitis OMIM:618805
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cryptorchidism, Microphthalmia, Hepatomegaly OMIM:613730
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Anemia, Hemophagocytosis, Thrombocytopenia OMIM:613101
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... ORPHA:766
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Neonatal cholestatic liver disease OMIM:214900
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Hypoplasia of penis, Hypospadias, Splenomegaly, Ascites, Anemia ORPHA:1046
Nephronophthisis 19
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... OMIM:616217
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Cryohydrocytosis
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185020
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Splenomegaly, Jaundice, Acholic stools, Portal fibrosis OMIM:619868
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia OMIM:617441
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi... OMIM:616278
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... ORPHA:2585
Amyloidosis, Familial Visceral
Splenomegaly, Hepatomegaly, Cholestasis OMIM:105200
Xk Aprosencephaly Syndrome
Microphthalmia, Abnormal external genitalia ORPHA:3469
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia, Hypogonadism, External genital hypoplasia, Cryptorchidism ORPHA:363741
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ... ORPHA:75564
Congenital Disorder Of Glycosylation, Type Iio
Hepatomegaly, Splenomegaly, Copper accumulation in liver, Hepatosplenomegaly, Cholestatic liver d... OMIM:616828
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Splenomegaly, Hepatomegaly ORPHA:2204
Dehydrated Hereditary Stomatocytosis 2
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase... OMIM:616689
Facial Clefting, Oblique, 1
Microphthalmia OMIM:600251
Adams-Oliver Syndrome 4
Microphthalmia OMIM:615297
X-Linked Sideroblastic Anemia
Splenomegaly, Anemia ORPHA:75563
Immunodeficiency 109 With Lymphoproliferation
Splenomegaly, Pancytopenia, Generalized lymphadenopathy, Absent circulating B cells OMIM:620282
Cofs Syndrome
Microphthalmia, Hypogonadism ORPHA:1466
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Congenital Primary Aphakia
Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia ORPHA:83461
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... OMIM:314050
Fish-Eye Disease
Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:79292
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N... OMIM:235700
Glycogen Storage Disease Ixb
Splenomegaly, Hepatomegaly, Increased hepatic glycogen content OMIM:261750
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia OMIM:278780
Congenital Varicella Syndrome
Microphthalmia ORPHA:291
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Abnor... OMIM:612840
Pfapa Syndrome
Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:42642
Alpha-1-Antitrypsin Deficiency
Splenomegaly, Cirrhosis, Hepatocellular carcinoma OMIM:613490
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:612653
Beta-Thalassemia
Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Thrombocytop... ORPHA:848
Immunodeficiency 27A
Splenomegaly, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Enlarged mesenteric lymph node, ... OMIM:209950
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia OMIM:274270
Cholesteryl Ester Storage Disease
Splenomegaly, Hepatomegaly, Jaundice, Cirrhosis ORPHA:75234
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,... OMIM:619313
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia OMIM:120433
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenom... OMIM:619375
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B... ORPHA:1414
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia OMIM:600776
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis OMIM:182900
46,Xy Sex Reversal 3
Penoscrotal hypospadias, Hypoplasia of the uterus, Sex reversal, Gonadal dysgenesis, Exaggerated ... OMIM:612965
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatitis, Hemophagocytosis OMIM:300635
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Elliptocytosis 1
Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis OMIM:611804
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Splenomegaly, Pancytopenia OMIM:614979
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A... OMIM:601859
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:616649
Lipodystrophy, Congenital Generalized, Type 3
Splenomegaly, Hepatomegaly, Hepatic steatosis, Hepatosplenomegaly OMIM:612526
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenomegaly, Hepat... OMIM:619463
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Meckel Syndrome, Type 8
Ambiguous genitalia, Microphthalmia, Anophthalmia, Enlarged kidney OMIM:613885
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammation, Portal fibro... OMIM:602347
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microphthalmia OMIM:616171
Indolent Systemic Mastocytosis
Hepatomegaly, Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytos... ORPHA:98848
Ornithine Transcarbamylase Deficiency
Splenomegaly ORPHA:664
2Q24 Microdeletion Syndrome
Microphthalmia ORPHA:1617
Sea-Blue Histiocytosis
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia ORPHA:158029
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Decreased CD4:CD8 ratio OMIM:618495
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia, Hypogonadism, Cryptorchidism OMIM:601794
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, Intermitte... OMIM:150550
Lymphoproliferative Syndrome 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, H... OMIM:615122
Warburg Micro Syndrome 1
Microphthalmia, External genital hypoplasia, Cryptorchidism OMIM:600118
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Spherocytosis ORPHA:66518
Joubert Syndrome 33
Splenomegaly OMIM:617767
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen ORPHA:89844
Oculogastrointestinal Neurodevelopmental Syndrome
Vaginal fistula, Bilateral microphthalmos, Unilateral microphthalmos OMIM:619318
Oculocerebrocutaneous Syndrome
Microphthalmia, Anophthalmia, Cryptorchidism OMIM:164180
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... OMIM:613470
46,Xx Ovotesticular Difference Of Sex Development
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... ORPHA:2138
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Genital ulcers, S... OMIM:602450
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Pierpont Syndrome
Microphthalmia, Cryptorchidism ORPHA:487825
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Pierpont Syndrome
Microphthalmia, Micropenis, Cryptorchidism OMIM:602342
Microphthalmia, Syndromic 9
Anophthalmia, Cryptorchidism, Bilateral microphthalmos, Multilobulated spleen, Hypoplasia of the ... OMIM:601186
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis ORPHA:59303
Craniotelencephalic Dysplasia
Microphthalmia, Optic nerve hypoplasia OMIM:218670
Microphthalmia, Syndromic 13
Microphthalmia OMIM:300915
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia OMIM:610023
Pyruvate Kinase Deficiency Of Red Cells
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... OMIM:266200
Craniotelencephalic Dysplasia
Microphthalmia, Septo-optic dysplasia ORPHA:1528
Immunodeficiency 7
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut... OMIM:615387
Hepatoportal Sclerosis
Portal hypertension, Nodular regenerative hyperplasia of liver, Portal vein thrombosis, Hypersple... ORPHA:64743
Braddock-Carey Syndrome 2
Microphthalmia, Thrombocytopenia OMIM:619981
Harderoporphyria
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Prolonged neonatal jaundice OMIM:618892
46,Xy Sex Reversal 11
Abnormal internal genitalia, Vanishing testis, Aplasia of the uterus, Gonadal dysgenesis with fem... OMIM:273250
Microphthalmia, Isolated 5
Microphthalmia OMIM:611040
Immunodeficiency, Common Variable, 1
Hepatomegaly, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased propo... OMIM:607594
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Microphthalmia, Leukemia OMIM:602501
Leydig Cell Hypoplasia
Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp... ORPHA:755
Cold Agglutinin Disease
Splenomegaly, Hemolytic anemia, Lymphadenopathy, Hepatomegaly ORPHA:56425
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia, Hypogonadotropic hypogonadism ORPHA:1135
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... OMIM:617394
Osteopetrosis, Autosomal Dominant 3
Splenomegaly, Hepatomegaly, Anemia OMIM:618107
Griscelli Syndrome Type 2
Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropenia ORPHA:79477
Joubert Syndrome 37
Hepatomegaly, Cryptorchidism, Microphthalmia, Micropenis, Decreased testicular size OMIM:619185
Hb Bart'S Hydrops Fetalis
Splenomegaly, Hepatomegaly, Abnormal hemoglobin, Anemia ORPHA:163596
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel... OMIM:601847
Microphthalmia, Isolated 8
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia OMIM:615113
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Microphthalmia, Hypogonadotropic hypogonadism ORPHA:48431
Microphthalmia, Syndromic 8
Microphthalmia, Cryptorchidism OMIM:601349
Stormorken Syndrome
Howell-Jolly bodies, Asplenia, Anemia, Hypoplastic spleen, Thrombocytopenia OMIM:185070
Mirage Syndrome
Hypospadias, Hypergonadotropic hypogonadism, Cryptorchidism, Anemia, Leukopenia, Microphallus, Sh... OMIM:617053
Glycogen Storage Disease Ixa1
Splenomegaly, Hepatomegaly OMIM:306000
Erythrocytosis, Familial, 1
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin OMIM:133100
Hemochromatosis, Type 1
Hepatomegaly, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Azoospermia, Cirrhosis, ... OMIM:235200
Fanconi Anemia, Complementation Group S
Microphthalmia, Ovarian carcinoma, Anemia, Ovarian neoplasm OMIM:617883
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Abnormally large globe, Splenomegaly, Pancreatic lymphangiectasis, Cryptorchidism, ... ORPHA:1655
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Streak ovary, Abnormality of female external genitalia, Testicular dysgenesis, Hypoplasia of the ... ORPHA:168563
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... OMIM:194380
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase... OMIM:185000
Primary Myelofibrosis
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Thrombocytopenia, ... ORPHA:824
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Lymphadenopathy, Acute leuke... ORPHA:3226
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Exocrine pancreatic insuff... OMIM:612714
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Splenomegaly, Hepatomegaly, Anemia OMIM:620296
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Microphthalmia ORPHA:324416
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Ambiguous genitalia, Microphthalmia ORPHA:93267
Cat-Eye Syndrome
Microphthalmia ORPHA:195
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia OMIM:611490
Developmental And Epileptic Encephalopathy 1
Microphthalmia, Micropenis OMIM:308350
Immunodeficiency 32B
Hepatomegaly, Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burs... OMIM:226990
Wolman Disease
Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Ascites, Anemia ORPHA:75233
Lymphoproliferative Syndrome 1
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Thrombocyto... OMIM:613011
Autoimmune Lymphoproliferative Syndrome, Type Iia
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A... OMIM:603909
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Microphthalmia, Hypoplasia of penis ORPHA:2547
Microcephaly 20, Primary, Autosomal Recessive
Hypoplasia of the uterus, Microphthalmia, Vaginal atresia, Optic nerve hypoplasia OMIM:617914
Ovarian Dysgenesis 6
Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:618078
Hydatidiform Mole
Enlarged uterus, Anemia ORPHA:99927
Myelofibrosis
Splenomegaly, Myeloproliferative disorder OMIM:254450
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone... OMIM:301078
Cholesteryl Ester Storage Disease
Hepatomegaly, Bone-marrow foam cells, Portal hypertension, Hypersplenism, Thrombocytopenia, Splen... OMIM:278000
Beta-Thalassemia Intermedia
Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate produ... ORPHA:231222
Neurooculocardiogenitourinary Syndrome
Bilateral cryptorchidism, Microphthalmia, Cardiomegaly OMIM:618652
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Cirrhosis,... OMIM:211600
Bile Acid Synthesis Defect, Congenital, 2
Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis OMIM:235555
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Hypospadias, Bilateral cryptorchidism, P... ORPHA:90797
Glycogen Storage Disease Ixc
Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, Increased hepatic glycogen content OMIM:613027
Transaldolase Deficiency
Hepatomegaly, Pancytopenia, Clitoral hypertrophy, Thrombocytopenia, Micronodular cirrhosis, Splen... OMIM:606003
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Microphthalmia, Hepatomegaly OMIM:619053
Complete Androgen Insensitivity Syndrome
Abnormal uterine cervix morphology, Testicular neoplasm, Bilateral cryptorchidism, Blind vagina, ... ORPHA:99429
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Hepatomegaly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, S... OMIM:224120
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microphthalmia OMIM:251270
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Splenomegaly, Leukocytosis OMIM:618042
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Microphthalmia ORPHA:1473
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ... OMIM:619802
Refsum Disease
Splenomegaly, Microphthalmia ORPHA:773
Gamma-Heavy Chain Disease
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... ORPHA:100026
46,Xy Sex Reversal 7
Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Sex reversal, Gonadobla... OMIM:233420
Trisomy 13
Anophthalmia, Displacement of the urethral meatus, Cryptorchidism, Aplasia/Hypoplasia of the iris... ORPHA:3378
Vaginal Atresia
Cervicitis, Vaginal hematocele, Abdominal mass, Pelvic mass, Transverse vaginal septum, Uterus di... ORPHA:65681
Systemic-Onset Juvenile Idiopathic Arthritis
Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:85414
Meckel Syndrome, Type 5
Microphthalmia, Bile duct proliferation OMIM:611561
Subaortic Stenosis-Short Stature Syndrome
Microphthalmia, Biliary tract abnormality ORPHA:3191
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Poikilocytosis, Prolonged ne... OMIM:300908
Hydrolethalus
Cryptorchidism, Microphthalmia, Anophthalmia, Abnormal fallopian tube morphology ORPHA:2189
Bile Acid Synthesis Defect, Congenital, 1
Hepatomegaly, Giant cell hepatitis, Splenomegaly, Jaundice, Intrahepatic cholestasis, Acholic sto... OMIM:607765
Developmental Delay With Variable Neurologic And Brain Abnormalities
Microphthalmia OMIM:619694
Cerebrooculofacioskeletal Syndrome 2
Microphthalmia, Micropenis, Small scrotum OMIM:610756
Sickle Cell Disease
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Jaundice, Leukocytosis, Splenic infar... OMIM:603903
Seckel Syndrome 2
Microphthalmia, Hypospadias OMIM:606744
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Acute pancreatitis, Lymphadenitis, Splenomegaly, Recurrent tonsillitis, Lymphad... OMIM:618935
Fanconi Anemia, Complementation Group R
Microphthalmia, Bone marrow hypocellularity, Anemia OMIM:617244
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Microphthalmia OMIM:613155
Diethylstilbestrol Syndrome
Hypospadias, Vaginal neoplasm, Abnormal reproductive system morphology, Cryptorchidism, Testicula... ORPHA:1916
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia, Isosexual precocious puberty ORPHA:2788
Lissencephaly 8
Microphthalmia OMIM:617255
Temtamy Syndrome
Microphthalmia ORPHA:1777
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Left ventricular hypertrophy, Microphthalmia OMIM:613153
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Microphthalmia, Optic nerve hypoplasia OMIM:615181
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Intrahepatic cholestasis, Splenomegaly, Jaundice, Hepatitis, Acholic stools, Bile d... OMIM:613812
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... ORPHA:3202
Budd-Chiari Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Peritonitis, Cholecystitis, Cirrhosis,... ORPHA:131
Drug-Induced Autoimmune Hemolytic Anemia
Splenomegaly, Autoimmune hemolytic anemia ORPHA:90037
Microphthalmia, Syndromic 11
Microphthalmia OMIM:614402
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... OMIM:603554
Trichothiodystrophy 3, Photosensitive
Bilateral cryptorchidism, Abdominal adhesions, Neutropenia, Microphthalmia, Lymphopenia OMIM:616395
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Splenomegaly, Pancytopenia, Hemophagocytosis, Anemia OMIM:618398
Proteasome-Associated Autoinflammatory Syndrome 4
Splenomegaly, Hepatomegaly, Autoimmune hemolytic anemia, Lymphadenopathy OMIM:619183
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy, Hypoplasia of the iris, Thrombocyt... ORPHA:169090
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy... ORPHA:86843
Bresek Syndrome
Decreased testicular size, Microphthalmia, Optic nerve hypoplasia, Cryptorchidism ORPHA:85284
Linear Skin Defects With Multiple Congenital Anomalies 2
Microphthalmia OMIM:300887
Mosaic Trisomy 9
Hypoplasia of penis, Asplenia, Cryptorchidism, Abnormal liver lobulation, Abnormality of the uter... ORPHA:99776
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia OMIM:604229
Hartsfield Syndrome
Microphthalmia ORPHA:2117
Joubert Syndrome 22
Microphthalmia OMIM:615665
Microphthalmia, Syndromic 5
Anophthalmia, Optic nerve hypoplasia, Cryptorchidism, Microphthalmia, Micropenis OMIM:610125
Immunodeficiency 36 With Lymphoproliferation
Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Increased proportion of transitional ... OMIM:616005
Congenital Disorder Of Glycosylation, Type Iq
Microphthalmia, Microcytic anemia OMIM:612379
Cerebrooculofacioskeletal Syndrome 1
Microphthalmia, Cryptorchidism OMIM:214150
46,Xx Sex Reversal 2
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... OMIM:278850
Baraitser-Winter Syndrome 2
Microphthalmia OMIM:614583
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hypoplasia of penis, Anophthalmia, Hypospadias, Cryptorchidism, Microphthalmia ORPHA:77298
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenop... OMIM:616100
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Microphthalmia, Small scrotum, Hypogonadism, Cryptorchidism ORPHA:228390
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma... ORPHA:288
Infantile Liver Failure Syndrome 3
Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Hepatic bridging fibrosis, Hepatic steatosis OMIM:618641
Mullerian Aplasia And Hyperandrogenism
Aplasia of the fallopian tube, Aplasia of the vagina, Abnormal external genitalia, Aplasia of the... OMIM:158330
Moebius Syndrome
Microphthalmia, Micropenis, Hypogonadotropic hypogonadism, Decreased testicular size OMIM:157900
Gaucher Disease, Type I
Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia OMIM:230800
Testicular Agenesis
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Hypoplasia o... ORPHA:325124
Meckel Syndrome
Accessory spleen, Anophthalmia, Pancreatic fibrosis, True hermaphroditism, Asplenia, Congenital h... ORPHA:564
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Pancreatic fibrosis, Malformation of the hepatic ductal plate, Portal hypertension,... OMIM:208540
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia, Vaginal atresia OMIM:248450
Warburg Micro Syndrome 4
Small scrotum, Cryptorchidism, Microphthalmia, Micropenis, Decreased testicular size OMIM:615663
Apolipoprotein C-Ii Deficiency
Splenomegaly, Hepatomegaly, Pancreatitis OMIM:207750
Fanconi Anemia, Complementation Group I
Bone marrow hypocellularity, Microphthalmia, Optic nerve hypoplasia, Neutropenia OMIM:609053
Tetraamelia Syndrome 1
Hypoplasia of the fallopian tube, Absent external genitalia, Asplenia, Microphthalmia, Vaginal at... OMIM:273395
Frontonasal Dysplasia 1
Microphthalmia OMIM:136760
Microphthalmia-Brain Atrophy Syndrome
Bilateral microphthalmos ORPHA:77299
Meckel Syndrome, Type 2
Microphthalmia, Bile duct proliferation OMIM:603194
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A... ORPHA:2334
Frontonasal Dysplasia 3
Microphthalmia OMIM:613456
Warburg Micro Syndrome 3
Small scrotum, Hypoplastic labia minora, Microphthalmia, Micropenis, Decreased testicular size OMIM:614222
Fanconi Anemia, Complementation Group E
Pancytopenia, Hypergonadotropic hypogonadism, Cryptorchidism, Reticulocytopenia, Anemia, Neutrope... OMIM:600901
Deafness, X-Linked 7
Unilateral microphthalmos OMIM:301018
Autoimmune Hemolytic Anemia, Warm Type
Splenomegaly, Autoimmune hemolytic anemia, Jaundice, Chronic lymphatic leukemia ORPHA:90033
Spondylo-Ocular Syndrome
Microphthalmia, Aplasia/Hypoplasia of the lens ORPHA:85194
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B... OMIM:607626
17Q12 Microduplication Syndrome
Microphthalmia ORPHA:261272
Baraitser-Winter Syndrome 1
Microphthalmia, Micropenis, Cryptorchidism OMIM:243310
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Microphthalmia, Optic nerve hypoplasia OMIM:614833
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Fanconi Anemia, Complementation Group F
Thrombocytopenia, Cryptorchidism, Leukopenia, Bone marrow hypocellularity, Microphallus, Micropht... OMIM:603467
Kapur-Toriello Syndrome
Hypoplastic labia majora, Microphthalmia, Hypoplasia of penis ORPHA:2328
Caroli Disease
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c... ORPHA:53035
Rere-Related Neurodevelopmental Syndrome
Microphthalmia, Hypospadias, Cryptorchidism ORPHA:494344
Microphthalmia With Brain And Digit Anomalies
Microphthalmia, Anophthalmia, Cryptorchidism ORPHA:139471
Multiple Benign Circumferential Skin Creases On Limbs
Small scrotum, Hypospadias, Cryptorchidism, Abnormality of the scrotum, Microphthalmia ORPHA:2505
Fanconi Anemia, Complementation Group A
Pancytopenia, Hypergonadotropic hypogonadism, Cryptorchidism, Reticulocytopenia, Anemia, Neutrope... OMIM:227650
Adams-Oliver Syndrome
Portal hypertension, Congenital hepatic fibrosis, Leukopenia, Cirrhosis, Microphthalmia, Ascites,... ORPHA:974
Hereditary Spherocytosis
Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Spleno... ORPHA:822
Ring Chromosome 10 Syndrome
Microphthalmia ORPHA:1438
Warburg Micro Syndrome 2
Small scrotum, Cryptorchidism, Hypoplastic labia majora, Microphthalmia, Micropenis OMIM:614225
Fanconi Anemia, Complementation Group C
Pancytopenia, Hypergonadotropic hypogonadism, Cryptorchidism, Reticulocytopenia, Anemia, Bone mar... OMIM:227645
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Microphthalmia, Cryptorchidism OMIM:618494
Meckel Syndrome 14
Ambiguous genitalia, Microphthalmia, Hepatic fibrosis, Aplasia of the uterus OMIM:619879
Anterior Segment Dysgenesis 2
Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia OMIM:610256
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Gray Platelet Syndrome
Splenomegaly, Thrombocytopenia, Abnormal number of alpha granules OMIM:139090
Meckel Syndrome, Type 4
Microphthalmia, Bile duct proliferation OMIM:611134
Micro Syndrome
Hypoplasia of penis, Cryptorchidism, Hypoplastic labia minora, Clitoral hypoplasia, Microphthalmia ORPHA:2510
Nance-Horan Syndrome
Microphthalmia ORPHA:627
Adams-Oliver Syndrome 2
Microphthalmia OMIM:614219
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Microphthalmia OMIM:614105
Cornea Plana 2, Autosomal Recessive
Microphthalmia OMIM:217300
Tetraamelia-Multiple Malformations Syndrome
Microphthalmia, Septo-optic dysplasia, Vaginal atresia, Cryptorchidism ORPHA:3301
Renal And Mullerian Duct Hypoplasia
Hydrocele testis, Anteriorly displaced urethral meatus, Aplasia of the uterus OMIM:266810
Bartsocas-Papas Syndrome 2
Microphthalmia OMIM:619339
Anterior Segment Dysgenesis 7
Buphthalmos, Microphthalmia OMIM:269400
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Microphthalmia OMIM:152950
Monosomy 18P
Microphthalmia ORPHA:1598
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Microphthalmia, Abnormally large globe OMIM:615249
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia OMIM:167730
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Buphthalmos, Microphthalmia OMIM:212550
Hyperlipoproteinemia, Type I
Splenomegaly, Jaundice, Pancreatitis, Hepatosplenomegaly OMIM:238600
Stromme Syndrome
Accessory spleen, Microphthalmia, Optic nerve hypoplasia OMIM:243605
Marden-Walker Syndrome
Microphthalmia, Micropenis, Hypospadias, Cryptorchidism OMIM:248700
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Hepatitis, Cholestasis, Buphth... OMIM:610199
Congenital Muscular Dystrophy With Cerebellar Involvement
Microphthalmia, Optic nerve hypoplasia ORPHA:370959
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Microphthalmia ORPHA:163649
Myoclonic-Astatic Epilepsy
Microphthalmia ORPHA:1942
Temtamy Syndrome
Microphthalmia OMIM:218340
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Microphthalmia, Lens coloboma OMIM:618914
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Microphthalmia, Cryptorchidism ORPHA:404440
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microphthalmia ORPHA:231736
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hypoplasia of the uterus, Aplasia of the vagina OMIM:277000
Microgastria-Limb Reduction Defect Syndrome
Hepatomegaly, Anophthalmia, Abnormality of the spleen, Perineal fistula, Rectovaginal fistula, Mi... ORPHA:2538
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Severe B lymphocytopenia, Portal hypertension, Thrombocytopenia, Cryptorchidism... OMIM:620005
Microphthalmia With Limb Anomalies
Microphthalmia, Anophthalmia, Unilateral cryptorchidism OMIM:206920
Pearson Syndrome
Hepatomegaly, Reticulocytosis, Pancytopenia, Pancreatic fibrosis, Thrombocytopenia, Splenomegaly,... ORPHA:699
Sandestig-Stefanova Syndrome
Microphthalmia OMIM:618804
Kapur-Toriello Syndrome
Hypoplastic labia majora, Microphthalmia, Micropenis, Cryptorchidism OMIM:244300
Fanconi Anemia, Complementation Group L
Bone marrow hypocellularity, Aplasia of the uterus, Microphthalmia, Micropenis, Anemia OMIM:614083
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Microphthalmia OMIM:300863
Basel-Vanagaite-Smirin-Yosef Syndrome
Microphthalmia, Hypospadias, Clitoral hypertrophy OMIM:616449
Walker-Warburg Syndrome
Microphthalmia, Hypoplasia of penis, Anophthalmia, Cryptorchidism ORPHA:899
Fanconi Anemia, Complementation Group D2
Pancytopenia, Hypergonadotropic hypogonadism, Thrombocytopenia, Cryptorchidism, Reticulocytopenia... OMIM:227646
Chromosome 13Q33-Q34 Deletion Syndrome
Bifid scrotum, Hypospadias, Cryptorchidism, Penoscrotal transposition, Left ventricular hypertrop... OMIM:619148
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur... OMIM:233710
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Increased mean platelet volume, Splenomegaly, Stomatocytosis, Thrombocytopenia OMIM:153670
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Microphthalmia, Small scrotum, Cryptorchidism ORPHA:2728
Parenteral Nutrition-Associated Cholestasis
Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomegaly, Jaundice, Hepatic fibrosis,... ORPHA:567983
Rodrigues Blindness
Microphthalmia OMIM:268320
Jacobsen Syndrome
Hypospadias, Cryptorchidism, Clitoral hypoplasia, Macular hypoplasia, Labial hypoplasia, Micropht... OMIM:147791
Stevenson-Carey Syndrome
Microphthalmia OMIM:611961
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Hypospadias, Precocious puberty in females, Bilateral cryptorchidism, Ovarian cyst... ORPHA:90793
Solitary Median Maxillary Central Incisor
Microphthalmia, Anophthalmia OMIM:147250
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Microphthalmia, Micropenis, Cryptorchidism OMIM:241410
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Cryptorchidism, Bilateral microphthalmos ORPHA:369891
Fraser Syndrome 2
Ambiguous genitalia, Microphthalmia, Hypoplasia of the thymus OMIM:617666
Blepharophimosis, Ptosis, And Epicanthus Inversus
Hypoplasia of the uterus, Microphthalmia OMIM:110100
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur... OMIM:233690
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Periportal fibrosis, Hepatic f... OMIM:263200
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
Meckel Syndrome, Type 1
Accessory spleen, External genital hypoplasia, Malformation of the hepatic ductal plate, Asplenia... OMIM:249000
Otodental Syndrome
Microphthalmia, Lens coloboma ORPHA:2791
Hyperlipoproteinemia, Type Id
Splenomegaly, Hepatomegaly, Recurrent pancreatitis, Pancreatitis OMIM:615947
Lumbar Syndrome
Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Hypoplastic labia majora, Ambiguous gen... ORPHA:83628
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Hypoplasia of penis, Anophthalmia, External genital hypoplasia, Cryptorchidism, Hypogonadism, Mic... ORPHA:2250
Linear Skin Defects With Multiple Congenital Anomalies 1
Hypospadias, Ovotestis, Hypoplasia of the uterus, Chordee, Microphthalmia, Micropenis, Clitoral h... OMIM:309801
Pseudotrisomy 13 Syndrome
Microphthalmia, Micropenis, Bicornuate uterus, Cryptorchidism OMIM:264480
Pelvis-Shoulder Dysplasia
Microphthalmia OMIM:169550
Exudative Vitreoretinopathy 2, X-Linked
Microphthalmia OMIM:305390
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Bilateral microphthalmos, Optic nerve hypoplasia OMIM:607597
Chromosome 17Q12 Duplication Syndrome
Microphthalmia OMIM:614526
Martsolf Syndrome 1
Microphthalmia, Micropenis, Hypogonadotropic hypogonadism, Cryptorchidism OMIM:212720
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Microphthalmia ORPHA:163966
Chromosome 1Q41-Q42 Deletion Syndrome
Microphthalmia, Cryptorchidism OMIM:612530
Frontofacionasal Dysplasia
Microphthalmia ORPHA:1791
Ritscher-Schinzel Syndrome 3
Microphthalmia, Cryptorchidism OMIM:619135
Mosaic Trisomy 1
Microphthalmia, Micropenis, Penile hypospadias, Hepatic agenesis ORPHA:1692
Gaucher Disease, Type Iiic
Splenomegaly, Hepatomegaly, Pancytopenia, Cardiomegaly OMIM:231005
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Female external genitalia in individual with 46,XY karyotype, Cryptorchidism, Male pseudohermaphr... ORPHA:168558
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Precocious puberty, Microphthalmia, Anophthalmia, Hypospadias OMIM:615877
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia, Bilateral microphthalmos ORPHA:2399
Vacterl With Hydrocephalus
Cryptorchidism, Microphthalmia, Anophthalmia, Abnormal fallopian tube morphology ORPHA:3412
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Female external genitalia in individual with 46,XY karyotype, Cryptorchidism, Male pseudohermaphr... ORPHA:289548
Heart And Brain Malformation Syndrome
Microphthalmia OMIM:616920
Microphthalmia, Syndromic 3
Optic nerve aplasia, Anophthalmia, Hypogonadotropic hypogonadism, Optic nerve hypoplasia, Hypospa... OMIM:206900
Vitreoretinochoroidopathy
Microphthalmia OMIM:193220
3P25.3 Microdeletion Syndrome
Microphthalmia ORPHA:435638
Fryns Syndrome
Bifid scrotum, Ectopic pancreatic tissue, Hypospadias, Cryptorchidism, Bicornuate uterus, Polyspl... OMIM:229850
Curry-Jones Syndrome
Microphthalmia ORPHA:1553
Encephalocraniocutaneous Lipomatosis
Hypoplasia of the iris, Microphthalmia, Cryptorchidism OMIM:613001
Fryns Syndrome
Microphthalmia, Bicornuate uterus, Hypospadias, Cryptorchidism ORPHA:2059
Oculopalatocerebral Syndrome
Microphthalmia OMIM:257910
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Microphthalmia OMIM:617306
Microphthalmia, Isolated, With Coloboma 9
Microphthalmia OMIM:615145
Coloboma, Ocular, Autosomal Dominant
Microphthalmia, Optic nerve aplasia OMIM:120200
Basel-Vanagaite-Smirin-Yosef Syndrome
Microphthalmia, Cholelithiasis, Male urethral meatus stenosis, Hypospadias ORPHA:464738
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Absent gallbladder, Septate vagina, Uterus didelphys, Microphthalmia, Micropenis OMIM:617925
Fetal Alcohol Syndrome
Microphthalmia ORPHA:1915
Cohen Syndrome
Cryptorchidism, Microphthalmia, Neutropenia ORPHA:193
Histiocytoid Cardiomyopathy
Hepatomegaly, Cardiomegaly, Polycystic ovaries, Microphthalmia, Congenital aphakia ORPHA:137675
Fanconi Anemia
Pyridoxine-responsive sideroblastic anemia, Hypospadias, Abnormal preputium morphology, Cryptorch... ORPHA:84
Joubert Syndrome 14
Microphthalmia OMIM:614424
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Aplasia of the uterus, Aplasia of the vagina, Uterus didelphys, Septate vagina OMIM:146255
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Microphthalmia OMIM:620098
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Buphthalmos, Microphthalmia OMIM:616538
Treacher-Collins Syndrome
Hypoplasia of penis, Small scrotum, Cryptorchidism, Hypoplasia of the thymus, Rectovaginal fistul... ORPHA:861
8Q21.11 Microdeletion Syndrome
Microphthalmia, Hypoplasia of penis, Cryptorchidism ORPHA:284160
Ohdo Syndrome, X-Linked
Small scrotum, Cryptorchidism, Shawl scrotum, Microphthalmia, Micropenis OMIM:300895
Familial Exudative Vitreoretinopathy
Microphthalmia ORPHA:891
Microphthalmia, Lenz Type
Microphthalmia, Hypospadias, Cryptorchidism ORPHA:568
Holoprosencephaly
Hypoplasia of penis, Anophthalmia, Abnormality of the spleen, Cryptorchidism, Microphthalmia ORPHA:2162
Hydrolethalus Syndrome 1
Accessory spleen, Hypospadias, Bifid uterus, Microphthalmia, Abnormal vagina morphology OMIM:236680
Norrie Disease
Hypoplasia of the iris, Microphthalmia, Buphthalmos OMIM:310600
Oculofaciocardiodental Syndrome
Microphthalmia ORPHA:2712
Chromosome 8Q21.11 Deletion Syndrome
Microphthalmia, Micropenis, Cryptorchidism OMIM:614230
Trichothiodystrophy 4, Nonphotosensitive
Microphthalmia OMIM:234050
Xeroderma Pigmentosum, Complementation Group B
Microphthalmia, Hypogonadism OMIM:610651
Trichothiodystrophy 1, Photosensitive
Microphthalmia, Hypogonadism OMIM:601675
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Microphthalmia OMIM:618571
Cockayne Syndrome B
Hepatomegaly, Splenomegaly, Cryptorchidism, Hypoplasia of the iris, Microphthalmia, Micropenis OMIM:133540
Ectodermal Dysplasia-Blindness Syndrome
Microphthalmia ORPHA:1806
Dubowitz Syndrome
Aplastic anemia, Hypospadias, Cryptorchidism, Hypoplasia of the iris, Acute lymphoblastic leukemi... OMIM:223370
3Q29 Microduplication Syndrome
Aniridia, Microphthalmia ORPHA:251038
Mosaic Variegated Aneuploidy Syndrome
Vaginal neoplasm, Acute lymphoblastic leukemia, Ambiguous genitalia, Microphthalmia, Ascites ORPHA:1052
Frontonasal Dysplasia 2
Bilateral cryptorchidism, Microphthalmia OMIM:613451
X-Linked Dominant Chondrodysplasia Punctata
Microphthalmia ORPHA:35173
Cerebrooculofacioskeletal Syndrome 4
Bilateral microphthalmos OMIM:610758
3Q29 Microdeletion Syndrome
Microphthalmia, Hypospadias ORPHA:65286
Bartsocas-Papas Syndrome 1
Absent external genitalia, Bilateral cryptorchidism, Hypoplastic labia majora, Bicornuate uterus,... OMIM:263650
Atelis Syndrome 2
Microphthalmia, Thrombocytopenia, Anemia OMIM:620185
Bosma Arhinia Microphthalmia Syndrome
Hypogonadotropic hypogonadism, Hypospadias, Cryptorchidism, Hypoplastic labia majora, Microphthal... OMIM:603457
Joubert Syndrome 2
Microphthalmia, Hypoplastic male external genitalia OMIM:608091
Townes-Brocks Syndrome 2
Rectovaginal fistula, Hypospadias, Bifid uterus OMIM:617466
Cardiac-Urogenital Syndrome
Accessory spleen, Bifid scrotum, Penoscrotal hypospadias, Unilateral cryptorchidism, Cryptorchidi... OMIM:618280
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Macroorchidism, Hypospadias, Unilateral microphthalmos OMIM:618874
Cousin Syndrome
Microphthalmia, Ambiguous genitalia, female, Ambiguous genitalia, male OMIM:260660
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Optic nerve hypoplasia, Cryptorchidism, Buphthalmos, Hypoplastic male external genitalia, Microph... OMIM:236670
Nance-Horan Syndrome
Microphthalmia OMIM:302350
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Microphthalmia ORPHA:1352
Persistent Hyperplastic Primary Vitreous
Buphthalmos, Microphthalmia, Phthisis bulbi, Macular hypoplasia ORPHA:91495
Trisomy 18
Microphthalmia, Abnormal morphology of female internal genitalia, Cryptorchidism ORPHA:3380
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus, Thrombocytopenia ORPHA:3320
Incontinentia Pigmenti
Hypoplasia of the fovea, Microphthalmia, Leukocytosis, Eosinophilia OMIM:308300
22Q11.2 Deletion Syndrome
Hypospadias, Abnormality of the tonsils, Splenomegaly, Cryptorchidism, Hypoplasia of the thymus, ... ORPHA:567
Degcags Syndrome
Hepatomegaly, Pancytopenia, Hypospadias, Congenital hypoplastic anemia, Cryptorchidism, Cholestas... OMIM:619488
Oculodentodigital Dysplasia, Autosomal Recessive
Microphthalmia OMIM:257850
Rothmund-Thomson Syndrome, Type 2
Microphthalmia, Annular pancreas, Hypogonadism, Cryptorchidism OMIM:268400
Mayer-Rokitansky-Küster-Hauser Syndrome
Hypoplasia of the vagina, Aplasia of the uterus ORPHA:3109
Skin Creases, Congenital Symmetric Circumferential, 1
Microphthalmia OMIM:156610
Microphthalmia With Linear Skin Defects Syndrome
Abnormal penis morphology, Anophthalmia, Hypospadias, Epispadias, Male pseudohermaphroditism, Abn... ORPHA:2556
Fraser Syndrome
Hypoplasia of penis, Anophthalmia, Small scrotum, Hypospadias, Cryptorchidism, Bicornuate uterus,... ORPHA:2052
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Microphthalmia, Phthisis bulbi OMIM:221900
Cat Eye Syndrome
Microphthalmia, Biliary atresia OMIM:115470
Holoprosencephaly-Postaxial Polydactyly Syndrome
Hypoplasia of penis, Hypospadias, Cryptorchidism, Ambiguous genitalia, Microphthalmia ORPHA:2166
Pallister-Hall Syndrome
Precocious puberty, Cryptorchidism, Microphthalmia, Micropenis, Decreased testicular size OMIM:146510
Chondrodysplasia Punctata 2, X-Linked Dominant
Microphthalmia OMIM:302960
Oeis Complex
Bifid uterus, Epispadias, Cryptorchidism, Ambiguous genitalia, female, Vesicovaginal fistula, Amb... OMIM:258040
Steinfeld Syndrome
Microphthalmia, Absent gallbladder OMIM:184705
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Buphthalmos, Microphthalmia OMIM:613150
Pelvis-Shoulder Dysplasia
Ambiguous genitalia, Bilateral microphthalmos ORPHA:2839
Cockayne Syndrome Type 3
Splenomegaly, Microphthalmia, Hepatomegaly ORPHA:90324
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Ambiguous genitalia, Microphthalmia, Cryptorchidism OMIM:616300
Roberts Syndrome
Thrombocytopenia, Cryptorchidism, Long penis, Microphthalmia, Clitoral hypertrophy ORPHA:3103
Microcephaly-Micromelia Syndrome
Microphthalmia OMIM:251230
Hallermann-Streiff Syndrome
Microphthalmia, Abdominal situs inversus, Cryptorchidism ORPHA:2108
1Q21.1 Microdeletion Syndrome
Microphthalmia, Cryptorchidism ORPHA:250989
Frontorhiny
Microphthalmia ORPHA:391474
2Q31.1 Microdeletion Syndrome
Microphthalmia, Cryptorchidism ORPHA:251014
Kenny-Caffey Syndrome, Type 2
Microphthalmia, Anemia OMIM:127000
Basal Cell Nevus Syndrome 1
Microphthalmia, Ovarian fibroma, Ovarian carcinoma OMIM:109400
Duane-Radial Ray Syndrome
Microphthalmia, Optic disc hypoplasia OMIM:607323
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Microphthalmia OMIM:253800
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Microphthalmia OMIM:618727
Fraser Syndrome 1
Anophthalmia, Hypospadias, Cryptorchidism, Bilateral microphthalmos, Abnormal thymus morphology, ... OMIM:219000
Trichothiodystrophy
Cryptorchidism, Bilateral microphthalmos, Increased mean corpuscular hemoglobin concentration, Go... ORPHA:33364
Galloway-Mowat Syndrome 1
Hypoplasia of the iris, Microphthalmia OMIM:251300
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Microphthalmia, Annular pancreas, Hypospadias, Cryptorchidism OMIM:616975
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Microphthalmia, Hypospadias, Optic nerve hypoplasia, Exocrine pancreatic insufficiency ORPHA:508498
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Microphthalmia, Optic nerve hypoplasia OMIM:614643
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Aplasia of the uterus, Vaginal atresia, Uterus didelphys, Septate vagina ORPHA:2237
Galloway-Mowat Syndrome 3
Microphthalmia OMIM:617729
Hallermann-Streiff Syndrome
Microphthalmia, Cryptorchidism OMIM:234100
Incontinentia Pigmenti
Microphthalmia, Eosinophilia ORPHA:464
Xeroderma Pigmentosum, Complementation Group D
Microphthalmia OMIM:278730
Thrombocytopenia-Absent Radius Syndrome
Eosinophilia, Pancreatic cysts, Leukocytosis, Hepatosplenomegaly, Anemia, Aplasia of the uterus, ... OMIM:274000
Aicardi Syndrome
Hepatoblastoma, Microphthalmia, Precocious puberty ORPHA:50
Monosomy 9Q22.3
Microphthalmia, Ovarian fibroma ORPHA:77301
Papillorenal Syndrome
Microphthalmia OMIM:120330
Focal Dermal Hypoplasia
Hypoplasia of the iris, Microphthalmia ORPHA:2092
Premature Aging Syndrome, Penttinen Type
Microphthalmia OMIM:601812
Oculoauricular Syndrome
Microphthalmia, Phthisis bulbi, Macular hypoplasia, Microphakia OMIM:612109
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Aplasia of the thymus, Hydrocele testis, Prolonged neonatal jaundice, Microphthalmia, Right ventr... OMIM:620186
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus ORPHA:2736
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Fused labia majora, Abnormal external genitalia, Hypogonadotropic hypogonadism, Precocious pubert... ORPHA:90794
Linear Skin Defects With Multiple Congenital Anomalies 3
Microphthalmia OMIM:300952
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Bifid scrotum, Hypospadias, Cryptorchidism, Clitoral hypoplasia, Microphthalmia, Micropenis OMIM:609945
Phace Association
Microphthalmia, Optic nerve hypoplasia OMIM:606519
Cockayne Syndrome
Splenomegaly, Microphthalmia, Cryptorchidism, Hepatomegaly ORPHA:191
Holoprosencephaly 9
Anophthalmia, Optic nerve hypoplasia, Cryptorchidism, Microphthalmia, Micropenis OMIM:610829
Aicardi Syndrome
Hepatoblastoma, Microphthalmia, Precocious puberty OMIM:304050
Pierson Syndrome
Rieger anomaly, Hypoplasia of the ciliary body, Hypoplasia of the iris, Macular hypoplasia, Micro... OMIM:609049
Momo Syndrome
Bilateral microphthalmos ORPHA:2563
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Microphthalmia ORPHA:85167
Charge Syndrome
Bifid scrotum, Anophthalmia, Hypogonadotropic hypogonadism, Cryptorchidism, Labial hypoplasia, Mi... ORPHA:138
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Microphthalmia, Leukemia, Anophthalmia ORPHA:2526
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Aplasia of the vagina, Aplasia of the uterus, Absent external genitalia OMIM:271520
Monosomy 9P
Ambiguous genitalia, Microphthalmia, Hypospadias, Cryptorchidism ORPHA:261112
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Microphthalmia ORPHA:364577
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Microphthalmia ORPHA:1236
Okamoto Syndrome
Splenomegaly, Bifid uterus, Abnormally large globe ORPHA:2729
Oculocerebrorenal Syndrome Of Lowe
Thrombocytopenia, Cryptorchidism, Buphthalmos, Azoospermia, Microphthalmia, Anemia ORPHA:534
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Aplasia of the vagina, Optic nerve hypoplasia, Aplasia of the uterus ORPHA:457284
Teebi-Shaltout Syndrome
Microphthalmia OMIM:272950
Yunis-Varon Syndrome
Hypospadias, Cardiomegaly, Cryptorchidism, Bilateral microphthalmos, Hypoplastic labia majora, Mi... ORPHA:3472
Curry-Jones Syndrome
Microphthalmia OMIM:601707
Pontocerebellar Hypoplasia Type 7
Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgenesis, Microphallus, Absent penis, Aplasi... ORPHA:284339
Lymphedema-Distichiasis Syndrome
Microphthalmia OMIM:153400
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Microphthalmia, Absent gallbladder ORPHA:3186
Charge Syndrome
Anophthalmia, Hypogonadotropic hypogonadism, External genital hypoplasia, Cryptorchidism, Unilate... OMIM:214800
Mycophenolate Mofetil Embryopathy
Microphthalmia ORPHA:268249
Microphthalmia, Syndromic 2
Anophthalmia, Hypospadias, Septate vagina, Cryptorchidism, Phthisis bulbi, Microphthalmia OMIM:300166
Wolf-Hirschhorn Syndrome
Accessory spleen, Rieger anomaly, Hypospadias, Precocious puberty, Cryptorchidism, Biliary tract ... OMIM:194190
Roberts-Sc Phocomelia Syndrome
Accessory spleen, Hypospadias, Enlarged labia minora, Cryptorchidism, Long penis, Biliary tract a... OMIM:268300
Acro-Renal-Ocular Syndrome
Microphthalmia, Optic disc hypoplasia ORPHA:959
Isolated Arrhinia
Microphthalmia ORPHA:1134
Oculo-Palato-Cerebral Syndrome
Microphthalmia ORPHA:2714
Skin Creases, Congenital Symmetric Circumferential, 2
Microphthalmia, Small scrotum, Hypospadias, Cryptorchidism OMIM:616734
Microphthalmia With Limb Anomalies
Microphthalmia, True anophthalmia, Cryptorchidism ORPHA:1106
Chromosome 17Q12 Deletion Syndrome
Cryptorchidism, Ovarian cyst, Aplasia of the vagina, Aplasia of the uterus, Unicornuate uterus OMIM:614527
Fontaine Progeroid Syndrome
Small scrotum, Cryptorchidism, Hypoplastic labia majora, Left ventricular hypertrophy, Microphtha... OMIM:612289
Autosomal Dominant Kenny-Caffey Syndrome
Bilateral microphthalmos, Decreased testicular size, Anemia ORPHA:93325
Linear Nevus Sebaceus Syndrome
Microphthalmia ORPHA:2612
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Hypospadias, Optic nerve hypoplasia, Cryptorchidism, Bilateral microphthalmos, Microphallus ORPHA:468631
Acrofrontofacionasal Dysostosis 1
Microphthalmia OMIM:201180
Mend Syndrome
Microphthalmia, Cryptorchidism ORPHA:401973
Oculodentodigital Dysplasia
Microphthalmia OMIM:164200
Pallister-Hall Syndrome
Small scrotum, Hypospadias, Precocious puberty, Cryptorchidism, Hydrometrocolpos, Aplasia/Hypopla... ORPHA:672
Phocomelia, Schinzel Type
Cryptorchidism, Hypoplasia of penis, Aplasia of the uterus ORPHA:2879
Townes-Brocks Syndrome
Bifid scrotum, Hypoplasia of penis, Rectoperineal fistula, Hypospadias, Cryptorchidism, Rectovagi... ORPHA:857
Proboscis Lateralis
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, External genital hypoplasia ORPHA:141099
Myhre Syndrome
Microphthalmia, Cryptorchidism OMIM:139210
Chromosome 13Q14 Deletion Syndrome
Microphthalmia, Micropenis, Cryptorchidism OMIM:613884
Adams-Oliver Syndrome 1
Microphthalmia, Imperforate hymen OMIM:100300
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Abnormal reproductive system morphology, Bifid uterus ORPHA:1521
Focal Dermal Hypoplasia
Anophthalmia, Cryptorchidism, Clitoral hypoplasia, Labial hypoplasia, Aniridia, Microphthalmia OMIM:305600
Holoprosencephaly 7
Microphthalmia, Bilateral microphthalmos OMIM:610828
Phace Syndrome
Microphthalmia, Lens coloboma, Optic nerve hypoplasia ORPHA:42775
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Microphthalmia OMIM:601552
Renpenning Syndrome 1
Microphthalmia, Hypospadias, Decreased testicular size, Phimosis OMIM:309500
Neu-Laxova Syndrome 1
Cryptorchidism, Microphthalmia, Bifid uterus OMIM:256520
Osteoporosis-Pseudoglioma Syndrome
Microphthalmia, Phthisis bulbi OMIM:259770
Branchiooculofacial Syndrome
Anophthalmia, Hypospadias, Cryptorchidism, Duplication of internal organs, Microphthalmia, Ectopi... OMIM:113620
Exstrophy-Epispadias Complex
Bifid scrotum, Bifid uterus, Epispadias, Cryptorchidism, Cystocele, Penoscrotal transposition, Ab... ORPHA:322
Norrie Disease
Aplasia/Hypoplasia of the lens, Cryptorchidism, Hypoplasia of the iris, Uterine rupture, Micropht... ORPHA:649
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Buphthalmos, Microphthalmia, Hypoplasia of the retina OMIM:253280
Limb-Mammary Syndrome
Aplasia of the uterus, Aplasia of the ovary ORPHA:69085
Ehlers-Danlos Syndrome, Vascular Type
Cryptorchidism, Cystocele, Cervical insufficiency, Uterine rupture, Uterine prolapse, Anemia OMIM:130050
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Microphthalmia OMIM:608670
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Bifid scrotum, Hypospadias, Webbed penis, Septate vagina, Asplenia, Cryptorchidism, Hydrocele tes... ORPHA:261537
Monosomy 13Q14
Microphthalmia ORPHA:1587
Witteveen-Kolk Syndrome
Hypospadias, Unilateral cryptorchidism, Phimosis, Male urethral meatus stenosis, Microphallus, Mi... OMIM:613406
Mowat-Wilson Syndrome
Bifid scrotum, Hypospadias, Webbed penis, Septate vagina, Asplenia, Cryptorchidism, Hydrocele tes... ORPHA:2152
Frontofacionasal Dysplasia
Microphthalmia OMIM:229400
Microphthalmia, Syndromic 6
Anophthalmia, Small scrotum, Female hypogonadism, Cryptorchidism, Microphthalmia OMIM:607932
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Microphthalmia OMIM:612474
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bifid scrotum, Hypospadias, Webbed penis, Septate vagina, Asplenia, Cryptorchidism, Hydrocele tes... ORPHA:261552
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Microphthalmia ORPHA:306542
Holoprosencephaly 1
Microphthalmia, Micropenis OMIM:236100
Neuroocular Syndrome
Hypoplasia of the fovea, Microphthalmia, Lens coloboma OMIM:619539
Lowe Oculocerebrorenal Syndrome
Microphthalmia, Cryptorchidism OMIM:309000
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Hypoplasia of the iris, Microphthalmia, Hemolytic anemia OMIM:175780
Coffin-Siris Syndrome 1
Cryptorchidism, Clitoral hypertrophy, Hypospadias, Aplasia of the uterus OMIM:135900
Mowat-Wilson Syndrome
Bifid scrotum, Microphthalmia, Hypospadias, Cryptorchidism OMIM:235730
8Q24.3 Microdeletion Syndrome
Bilateral microphthalmos, Optic nerve hypoplasia, Exocrine pancreatic insufficiency ORPHA:508488
Treacher Collins Syndrome 1
Cryptorchidism, Bilateral microphthalmos OMIM:154500
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Small scrotum, Hypospadias, Cryptorchidism, Anteriorly displaced genitalia, Aplasia of the uterus OMIM:276820
Townes-Brocks Syndrome 1
Bifid scrotum, Rectoperineal fistula, Hypospadias, Bifid uterus, Cryptorchidism, Rectovaginal fis... OMIM:107480
Loeys-Dietz Syndrome
Uterine rupture ORPHA:60030
Holoprosencephaly 2
Microphthalmia OMIM:157170
Vascular Ehlers-Danlos Syndrome
Hypospadias, Cryptorchidism, Cystocele, Uterine rupture, Uterine prolapse ORPHA:286
Microphthalmia, Syndromic 1
Microphthalmia, Anophthalmia, Hypospadias, Cryptorchidism OMIM:309800
Pallister-Killian Syndrome
Small scrotum, Hypospadias, Cryptorchidism, Hypoplastic labia majora, Aplasia of the upper vagina... OMIM:601803
Craniofacial Microsomia 1
Microphthalmia, Anophthalmia OMIM:164210

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 Gpatch3

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 Gpatch3.

No publications found that use IMPC mice or data for Gpatch3.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Gpatch3em1(IMPC)Mbp Exon Deletion Mice, Tissue
Gpatch3tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Gpatch3tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Gpatch3tm44407(L1L2_gt0) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

The IMPC Newsletter

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

Subscribe to newsletter