Gene Summary

Name:
polymerase (DNA directed), epsilon 2 (p59 subunit)
Synonyms:
DNA polymerase epsilon small subunit

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
enlarged spleen Pole2em1(IMPC)Mbp HET Late adult 0.00
enlarged seminal vesicle Pole2em1(IMPC)Mbp HET Late adult 0.00
abnormal neural tube closure Pole2em1(IMPC)Mbp HET E9.5 0.00
increased prepulse inhibition Pole2em1(IMPC)Mbp HET Early adult 7.99×10-05
small testis Pole2em1(IMPC)Mbp HET Late adult 0.00
abnormal heart morphology Pole2em1(IMPC)Mbp HET Late adult 0.00
abnormal uterus morphology Pole2em1(IMPC)Mbp HET Late adult 0.00
abnormal neural tube morphology Pole2em1(IMPC)Mbp HET E9.5 0.00
absent seminal vesicle Pole2em1(IMPC)Mbp HET Late adult 0.00
preweaning lethality, complete penetrance Pole2em1(IMPC)Mbp HOM   Early adult 0.00
abnormal embryo turning Pole2em1(IMPC)Mbp HET E9.5 0.00
abnormal hindbrain development Pole2em1(IMPC)Mbp HET E9.5 0.00
microphthalmia Pole2em1(IMPC)Mbp HET Late adult 0.00
abnormal liver morphology Pole2em1(IMPC)Mbp HET Late adult 0.00
small heart Pole2em1(IMPC)Mbp HET Late adult 0.00
blind uterus Pole2em1(IMPC)Mbp HET Late adult 0.00
embryonic lethality prior to organogenesis Pole2em1(IMPC)Mbp HOM   E9.5 0.00
abnormal spleen morphology Pole2em1(IMPC)Mbp HET Late adult 0.00
abnormal eye morphology Pole2em1(IMPC)Mbp HET Late adult 0.00
abnormal skin morphology Pole2em1(IMPC)Mbp HET Late adult 0.00
impaired glucose tolerance Pole2em1(IMPC)Mbp HET Late adult 2.90×10-05

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

39 Images

X-ray

XRay Images Whole Body Dorso Ventral

30 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

13 Images

Human diseases caused by Pole2 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 Pole2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Neural Tube Defects, X-Linked
Spina bifida, Anencephaly OMIM:301410
Gombo Syndrome
Abnormal heart morphology, Microphthalmia, Delayed puberty OMIM:233270
Microphthalmia, Syndromic 12
Ventricular septal defect, Hypoplastic left atrium, Microphthalmia, Anophthalmia, Bicornuate uter... OMIM:615524
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:294
Mmep Syndrome
Ventricular septal defect, Cryptorchidism, Microphthalmia ORPHA:3434
Hemochromatosis, Type 1
Testicular atrophy, Hepatomegaly, Amenorrhea, Azoospermia, Hepatocellular carcinoma, Ascites, Hyp... OMIM:235200
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Microphthalmia, Isolated 4
Microphthalmia, Absent testis OMIM:613094
Hemochromatosis, Type 2B
Secondary amenorrhea, Hepatomegaly, Hepatic fibrosis, Anemia, Cardiomyopathy, Splenomegaly, Hypog... OMIM:613313
Hemochromatosis, Type 2A
Dilated cardiomyopathy, Hepatomegaly, Infertility, Amenorrhea, Azoospermia, Hypogonadotropic hypo... OMIM:602390
Leydig Cell Hypoplasia
Hypospadias, Secondary amenorrhea, Aplasia of the uterus, Abnormal external genitalia, Micropenis... ORPHA:755
Faciothoracogenital Syndrome
Prominent scrotal raphe, Shawl scrotum, Microphthalmia, Glandular hypospadias OMIM:227320
Ovarian Dysgenesis 2
Secondary amenorrhea, Delayed puberty, Abnormality of the uterus, Primary amenorrhea, Premature o... OMIM:300510
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Absent testis, Agonadism, Abnormality of male i... ORPHA:983
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Hypochromia, Azoospermia, Anemia, Splenomegaly, Hypogonadism, Poikilocytosis, Decre... OMIM:615234
Biemond Syndrome Type 2
Hypospadias, Microphthalmia, Hypogonadotropic hypogonadism, Hypogonadism, Delayed puberty ORPHA:141333
46,Xy Sex Reversal 11
Gonadal dysgenesis with female appearance, male, Vanishing testis, Aplasia of the uterus, Decreas... OMIM:273250
Xk Aprosencephaly Syndrome
Abnormal external genitalia, Ventricular septal defect, Atrial septal defect, Microphthalmia ORPHA:3469
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Hepatomegaly, Microphthalmia ORPHA:2432
Congenital Disorder Of Glycosylation, Type Ik
Hypogonadism, Hepatomegaly, Cardiomyopathy, Splenomegaly OMIM:608540
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Congenital Toxoplasmosis
Hepatomegaly, Microphthalmia, Ascites, Lymphadenopathy, Cardiomegaly, Anemia, Elevated hepatic tr... ORPHA:858
Congenital Rubella Syndrome
Hepatomegaly, Ventricular septal defect, Microphthalmia, Anemia, Aplasia/Hypoplasia of the iris, ... ORPHA:290
Microcephaly-Microcornea Syndrome, Seemanova Type
Hypogonadism, Microphthalmia ORPHA:2528
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Macrosomia With Microphthalmia, Lethal
Microphthalmia OMIM:248110
Symptomatic Form Of Hemochromatosis Type 1
Testicular atrophy, Hepatomegaly, Infertility, Cholangiocarcinoma, Amenorrhea, Hepatocellular car... ORPHA:465508
Hypogonadism, Male
Testicular atrophy, Micropenis, Male hypogonadism, Hypospadias OMIM:241100
Isolated Follicle Stimulating Hormone Deficiency
Oligospermia, Abnormal sperm morphology, Testicular atrophy, Oligomenorrhea, Azoospermia, Hypogon... ORPHA:52901
Alpha-Heavy Chain Disease
Hepatomegaly, Ascites, Lymphadenopathy, Anemia, Splenomegaly, Premature ovarian insufficiency ORPHA:100025
Nanophthalmos 4
Microphthalmia OMIM:615972
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Endocardial fibrosis, Restrictive cardiomyopathy, Splenomegaly, Myeloproliferative ... OMIM:607685
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Congenital Fibrinogen Deficiency
Splenic rupture, Hemorrhagic ovarian cyst, Microphthalmia, Right ventricular hypertrophy, Left ve... ORPHA:335
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy, Bone marrow hypocellularity, Cirrhosis, Pancytopenia, Thrombocytopenia OMIM:613987
Matthew-Wood Syndrome
Microphthalmia, Annular pancreas, Aplasia/Hypoplasia of the pancreas, Anophthalmia, Abnormal sple... ORPHA:2470
Partial Androgen Insensitivity Syndrome
Hypospadias, Increased antimullerian hormone level, Aplasia of the uterus, Increased serum testos... ORPHA:90797
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Kennedy Disease
Testicular atrophy, Type II diabetes mellitus, Erectile dysfunction, Decreased fertility ORPHA:481
Bone Marrow Failure Syndrome 5
Testicular atrophy, Pure red cell aplasia, Anemia, Hypogonadism OMIM:618165
Estrogen Resistance
Glucose intolerance, Impaired glucose tolerance, Primary amenorrhea, Hyperinsulinemia, Hypoplasia... OMIM:615363
Cardiac-Urogenital Syndrome
Dextrocardia, Aplasia of the uterus, Ventricular septal defect, Bifid scrotum, Dysplastic tricusp... OMIM:618280
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Azoospermia, Hypogonadotropic hypogonadism, Gonadotropin deficiency, Micropenis, Primary amenorrh... OMIM:614837
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hyperglycemia, Glucose intolerance, Male hypogonadism, Hypergonadotropic hypogonadism OMIM:307500
Neurooculocardiogenitourinary Syndrome
Ventricular septal defect, Microphthalmia, Cardiomegaly, Bilateral cryptorchidism, Atrial septal ... OMIM:618652
Splenoportal Vascular Anomalies
Anomalous splenoportal venous system, Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis, Diabete... OMIM:271500
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Complete Androgen Insensitivity Syndrome
Increased antimullerian hormone level, Aplasia of the uterus, Aplasia/Hypoplasia of the fallopian... ORPHA:99429
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Hypogonadism, Cryptorchidism, External genital hypoplasia, Microphthalmia ORPHA:363741
Warburg Micro Syndrome 4
Micropenis, Microphthalmia, Decreased testicular size, Cryptorchidism OMIM:615663
Hemochromatosis, Type 4
Hepatomegaly, Glucose intolerance, Impaired glucose tolerance, Anemia, Cardiomyopathy, Cirrhosis,... OMIM:606069
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Hepatic fibrosis, Splenomegaly, Hepatic steatosis, Elevated hepatic transaminase OMIM:614480
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Testicular dysgenesis, Gonadal dysgenesis with female appearance, male, Abnormal vagina morpholog... ORPHA:168563
Immunodeficiency 48
Hepatomegaly, Splenomegaly OMIM:269840
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Lymphadenopathy, Hepatomegaly, T lymphocytopenia, Splenomegaly OMIM:608971
Premature Ovarian Failure 12
Microphthalmia, Primary amenorrhea OMIM:616947
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatomegaly, Fasting hypoglycemia, Dysmenorrhea, Oligomenorrhea, Portal fibrosis, Hepatic fibros... ORPHA:370
Craniorachischisis
Sirenomelia, Anencephaly, Myelomeningocele, Cervical spina bifida, Spinal dysraphism ORPHA:63260
Beta-Thalassemia
Hypertrophic cardiomyopathy, Hepatomegaly, Hypogonadotropic hypogonadism, Hepatitis, Abnormal hem... ORPHA:848
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Lymphadenopathy, Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly OMIM:618495
Hemoglobin H Disease
Hepatomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Splenomegaly, Hemolytic anemia OMIM:613978
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypoplasia of the ovary, Decreased serum estradiol, Micropenis, Pr... OMIM:614841
Aplasia Cutis Congenita
Spinal dysraphism ORPHA:1114
Triokinase And Fmn Cyclase Deficiency Syndrome
Dilated cardiomyopathy, Hepatomegaly, Microphthalmia, Pancreatitis, Hepatic steatosis, Elevated c... OMIM:618805
Pparg-Related Familial Partial Lipodystrophy
Hypertrophic cardiomyopathy, Secondary amenorrhea, Hepatomegaly, Maternal diabetes, Dysmenorrhea,... ORPHA:79083
Microphthalmia, Isolated, With Coloboma 6
Optic disc hypoplasia, Bilateral microphthalmos, Hypoplasia of the fovea OMIM:613703
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Nonspherocytic hemolytic anemia, Splenomegaly OMIM:206400
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Hypogonadism, Cryptorchidism, Microphthalmia OMIM:601794
Anemia, Congenital Dyserythropoietic, Type Iv
Hypertrophic cardiomyopathy, Hepatomegaly, Erythroid hyperplasia, Anemia, Splenomegaly, Reticuloc... OMIM:613673
Diethylstilbestrol Syndrome
Hypospadias, Testicular dysgenesis, Decreased fertility in females, Abnormal reproductive system ... ORPHA:1916
Ovarian Dysgenesis 7
Delayed puberty, Primary amenorrhea, Hypoplasia of the uterus OMIM:618117
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Hypospadias, Increased circulating progesterone, Aplasia of the uterus, Bifid scrotum, Elevated c... ORPHA:90793
Oculogastrointestinal Neurodevelopmental Syndrome
Vaginal fistula, Bicuspid aortic valve, Bilateral microphthalmos, Unilateral microphthalmos OMIM:619318
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Insulin resistance, Splenomegaly, Hepatic steatosis, Hepatosplenomegaly, Primary am... OMIM:612526
Cerebrooculofacioskeletal Syndrome 2
Micropenis, Microphthalmia OMIM:610756
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Hypochromia, Type II diabetes mellitus, Elevated hepatic iron concentration, Erythr... OMIM:616860
Hemoglobin D Disease
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... ORPHA:90039
Premature Ovarian Failure 7
Secondary amenorrhea, Elevated circulating follicle stimulating hormone level, Clitoral hypertrop... OMIM:612964
Primary Lipodystrophy
Type II diabetes mellitus, Insulin resistance, Polycystic ovaries, Cardiomyopathy, Menometrorrhag... ORPHA:90970
Cofs Syndrome
Hypogonadism, Microphthalmia ORPHA:1466
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Oculocerebrocutaneous Syndrome
Anophthalmia, Cryptorchidism, Microphthalmia OMIM:164180
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia OMIM:616570
Sea-Blue Histiocyte Disease
Cirrhosis, Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphadenopathy, Hepatitis, Splenomegaly, Autoimmune thrombocytopenia, Lymphopenia, Hemolytic ane... ORPHA:444463
Spermatogenic Failure, X-Linked, 2
Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Androgen Insensitivity Syndrome
Aplasia/Hypoplasia of the fallopian tube, Aplasia/hypoplasia of the uterus, Abnormal morphology o... ORPHA:754
Congenital Bile Acid Synthesis Defect Type 1
Hepatomegaly, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Elevated hepatic trans... ORPHA:79301
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Beta-Thalassemia Intermedia
Adrenal insufficiency, Splenomegaly, Hepatosplenomegaly, Diabetes mellitus, Anemia of inadequate ... ORPHA:231222
Transaldolase Deficiency
Hepatomegaly, Ventricular septal defect, Hepatic fibrosis, Micronodular cirrhosis, Anemia, Spleno... OMIM:606003
Dextrocardia With Unusual Facies And Microphthalmia
Anophthalmia, Microphthalmia, Dextrocardia OMIM:221950
Microphthalmia, Syndromic 8
Cryptorchidism, Microphthalmia OMIM:601349
46,Xx Ovotesticular Disorder Of Sex Development
Hypospadias, True hermaphroditism, Bifid scrotum, Abnormal morphology of female internal genitali... ORPHA:2138
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hepatic fibrosis, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, El... OMIM:619658
Warburg Micro Syndrome 1
Cryptorchidism, External genital hypoplasia, Microphthalmia OMIM:600118
Tyrosinemia Type 1
Hepatomegaly, Acute hepatic failure, Hepatocellular carcinoma, Splenomegaly ORPHA:882
Warburg Micro Syndrome 3
Hypoplastic labia minora, Micropenis, Microphthalmia, Decreased testicular size OMIM:614222
Subaortic Stenosis-Short Stature Syndrome
Type II diabetes mellitus, Microphthalmia, Subvalvular aortic stenosis, Biliary tract abnormality... ORPHA:3191
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Hypoglycemia, Hypogonadotropic hypogonadism, Microphthalmia ORPHA:48431
Joubert Syndrome 37
Hepatomegaly, Microphthalmia, Micropenis, Cryptorchidism, Decreased testicular size OMIM:619185
46,Xy Sex Reversal 3
Sex reversal, Elevated circulating follicle stimulating hormone level, Penoscrotal hypospadias, E... OMIM:612965
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Hypersplenism, Decreased helper T cell proportion, Splenomegaly OMIM:183350
Microphthalmia, Syndromic 9
Ventricular septal defect, Hypoplastic left atrium, Truncus arteriosus, Anophthalmia, Single vent... OMIM:601186
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Ventricular septal defect, Ambiguous genitalia, Microphthalmia ORPHA:93267
Neonatal Severe Primary Hyperparathyroidism
Abnormal calcium-phosphate regulating hormone level, Hepatomegaly, Abnormality of the thyroid gla... ORPHA:417
Pierpont Syndrome
Cryptorchidism, Microphthalmia ORPHA:487825
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Splenomegaly, Hypogonadism, Decreased testicular size, Decreased serum testosterone... OMIM:201100
Familial Partial Lipodystrophy, Dunnigan Type
Hypertrophic cardiomyopathy, Secondary amenorrhea, Hepatomegaly, Dysmenorrhea, Insulin resistance... ORPHA:2348
Ovarian Dysgenesis 9
Decreased antimullerian hormone level, Elevated circulating follicle stimulating hormone level, H... OMIM:619665
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Premature Ovarian Failure 3
Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the uterus OMIM:608996
Alpha-Thalassemia
Anemia, Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hypersplenism, Microcytic anemia, Hemo... ORPHA:846
Perrault Syndrome 6
Secondary amenorrhea, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Irregula... OMIM:617565
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Azoospermia OMIM:613909
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Spinocerebellar Ataxia Type 32
Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
Pierpont Syndrome
Micropenis, Microphthalmia, Cryptorchidism OMIM:602342
Glycogen Storage Disease Ixc
Hepatomegaly, Fasting hypoglycemia, Hypoglycemia, Increased hepatic glycogen content, Bile duct p... OMIM:613027
Hyperbilirubinemia, Shunt, Primary
Hepatomegaly, Erythroid hyperplasia, Splenomegaly, Jaundice, Reticulocytosis, Anemia of inadequat... OMIM:237800
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypoplasia of the uterus OMIM:614842
X-Linked Sideroblastic Anemia
Elevated hepatic transaminase, Glucose intolerance, Anemia, Splenomegaly ORPHA:75563
Hyperlipoproteinemia, Type Id
Hepatomegaly, Splenomegaly OMIM:615947
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Fasting hypoglycemia, Dysmenorrhea, Oligomenorrhea, Portal fibrosis, Hepatic fibros... ORPHA:264580
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Pulmonary lymphangiectasia, Hepatomegaly, Ventricular septal defect, Ascites, Splenomegaly, Abnor... ORPHA:1655
Mosaic Trisomy 9
Dextrocardia, Ventricular septal defect, Microphthalmia, Hypoplasia of penis, Asplenia, Endocardi... ORPHA:99776
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Neutropenia, Leukopenia, Anemia, Splenomegaly, Extramedullary hematopoiesis, Thromb... OMIM:615285
Wolfram Syndrome 1
Testicular atrophy, Diabetes insipidus, Megaloblastic anemia, Cardiomyopathy, Sideroblastic anemi... OMIM:222300
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion... OMIM:603902
Chromosome 1Q41-Q42 Deletion Syndrome
Cryptorchidism, Microphthalmia OMIM:612530
Nanophthalmos
Microphthalmia ORPHA:35612
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Erythroid hyperplasia, Leukemia, Anemia, Splenomegaly, Acute myeloid leukemia, Thro... OMIM:133180
Premature Ovarian Failure 6
Secondary amenorrhea, Streak ovary, Elevated circulating follicle stimulating hormone level, Fema... OMIM:612310
Trisomy 13
Ventricular septal defect, Microphthalmia, Abnormal morphology of female internal genitalia, Anop... ORPHA:3378
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Congenital Disorder Of Glycosylation, Type Iio
Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Cirrhosis, Cholestatic liver disease, ... OMIM:616828
Fanconi Anemia, Complementation Group G
Microphthalmia, Neutropenia, Leukemia, Anemia, Thrombocytopenia OMIM:614082
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Hypospadias, Ascites, Anemia, Splenomegaly, Hypoplasia of penis ORPHA:1046
Premature Ovarian Failure 18
Secondary amenorrhea, Irregular menstruation, Decreased antimullerian hormone level, Elevated cir... OMIM:619203
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Portal fibrosis, Elevated hepatic transaminase, Bile duct proliferation, Splenomega... OMIM:602347
Anemia, Congenital Dyserythropoietic, Type Ii
Anemia of inadequate production, Cholelithiasis, Splenomegaly, Reticulocytosis, Jaundice OMIM:224100
Microphthalmia, Isolated, With Coloboma 5
Anophthalmia, Bilateral microphthalmos, Microphthalmia OMIM:611638
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Meacham Syndrome
Abnormality of the spleen, Abnormal vagina morphology, Ventricular septal defect, Conotruncal def... ORPHA:3097
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Gracile Bone Dysplasia
Microphthalmia, Ascites, Asplenia, Aniridia, Micropenis, Hypoplastic spleen OMIM:602361
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Ovarian Dysgenesis 5
Primary amenorrhea, Hypoplasia of the uterus OMIM:617690
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Neutropenia, Lymphadenopathy, Anemia, Splenomegaly, Thrombocytopenia, Hemophagocyto... OMIM:603552
Hurler-Scheie Syndrome
Hepatomegaly, Abnormality of the tonsils, Cardiomyopathy, Splenomegaly, Abnormal heart valve morp... ORPHA:93476
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Iron deficiency anemia, Splenomegaly, Hepatic fa... OMIM:616278
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Lymphadenopathy, Splenomegaly, Microcytic anemia, Recurrent tonsillitis OMIM:618852
Galactose Epimerase Deficiency
Jaundice, Hepatomegaly, Splenomegaly ORPHA:79238
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute lymphoblastic leukemia, Neutropenia, Hepatocellular carcinoma, Elevated hepatic transaminas... ORPHA:158057
Normosmic Congenital Hypogonadotropic Hypogonadism
Increased female libido, Secondary amenorrhea, Azoospermia, Hypogonadotropic hypogonadism, Absenc... ORPHA:432
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Hypogonadotropic hypogonadism, Microphthalmia ORPHA:1135
Skin Creases, Congenital Symmetric Circumferential, 2
Hypospadias, Cryptorchidism, Microphthalmia OMIM:616734
Lysosomal Acid Lipase Deficiency
Adrenal insufficiency, Bone-marrow foam cells, Splenomegaly, Hepatosplenomegaly, Hypersplenism, P... OMIM:278000
Perrault Syndrome 3
Hypoplasia of the uterus, Primary amenorrhea, Hypergonadotropic hypogonadism OMIM:614129
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hypospadias, Ventricular septal defect, Microphthalmia, Anophthalmia, Cryptorchidism, Hypoplasia ... ORPHA:77298
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Aplasia of the uterus, Abnormality of the Leydig cells, Elevated circulating follicle stimulating... ORPHA:289548
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Elevated hepatic trans... OMIM:214900
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Aplasia of the uterus, Abnormality of the Leydig cells, Elevated circulating follicle stimulating... ORPHA:168558
Galactosemia Iii
Jaundice, Hepatomegaly, Splenomegaly OMIM:230350
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatomegaly, Hepatic fibrosis, Hepatic failure, Splenomegaly OMIM:616719
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Ventricular septal defect, Hepatic fibrosis, Glucose intolerance, Impaired glucose ... OMIM:615630
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Hydatidiform Mole
Enlarged uterus, Anemia, Spontaneous abortion, Menometrorrhagia, Hyperthyroidism ORPHA:99927
Microphthalmia, Isolated, With Coloboma 10
Anophthalmia, Microphthalmia OMIM:616428
Niemann-Pick Disease, Type B
Hepatomegaly, Bone-marrow foam cells, Sea-blue histiocytosis, Splenomegaly OMIM:607616
Trimethylaminuria
Anemia, Neutropenia, Splenomegaly OMIM:602079
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased B cell count, Hepatomegaly, Decreased proportion of class-switched memory B cells, Medi... OMIM:615559
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypospadias, Elevated circulating follicle stimulating hormone level, Ambiguous genitalia, male, ... ORPHA:90796
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microphthalmia OMIM:616171
Estrogen Resistance Syndrome
Absence of pubertal development, Glucose intolerance, Absence of secondary sex characteristics, I... ORPHA:785
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:86893
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Autoimmune Hemolytic Anemia, Cold Type
Hemolytic anemia, Abnormal leukocyte morphology, Splenomegaly ORPHA:228312
Cholesteryl Ester Storage Disease
Hepatomegaly, Splenomegaly, Cirrhosis, Adrenal calcification, Hepatic failure, Jaundice ORPHA:75234
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Neutropenia, Leukopenia, Monocytosis, Hypoplasia of the thymus, Anemia, Pulmonic st... OMIM:612541
Immunodeficiency 16
Coombs-positive hemolytic anemia, Pancytopenia, Splenomegaly OMIM:615593
Bresek Syndrome
Cryptorchidism, Microphthalmia, Decreased testicular size, Optic nerve hypoplasia ORPHA:85284
Foveal Hypoplasia 2
Microphthalmia, Hypoplasia of the fovea OMIM:609218
Testicular Agenesis
Vanishing testis, Decreased serum testosterone concentration, Urethrovaginal fistula, Abnormal va... ORPHA:325124
Peroxisome Biogenesis Disorder 5A (Zellweger)
Hepatomegaly, Abnormal heart morphology, Intrahepatic biliary dysgenesis, Splenomegaly, Clitoral ... OMIM:614866
Amed Syndrome, Digenic
Leukopenia, Bone marrow hypocellularity, Anemia, Acute myeloid leukemia, Adrenal hypoplasia, Thro... OMIM:619151
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Neutropenia, Monocytosis, Leukemia, Splenomegaly, Autoimmune thrombocytopenia, Lymp... OMIM:614470
Nephronophthisis 19
Hepatomegaly, Hepatic fibrosis, Bile duct proliferation, Splenomegaly, Cholestasis OMIM:616217
Myotonic Dystrophy 1
Testicular atrophy, Cholelithiasis, Hypogonadism OMIM:160900
46,Xy Partial Gonadal Dysgenesis
Hypospadias, Adrenal insufficiency, Elevated circulating follicle stimulating hormone level, Urog... ORPHA:251510
Mast Cell Sarcoma
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Mastocytosis ORPHA:66661
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Leukemia, Ventricular septal defect, Microphthalmia OMIM:602501
Progressive Familial Intrahepatic Cholestasis
Jaundice, Hepatomegaly, Cholestasis, Splenomegaly ORPHA:172
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Fasting hypoglycemia, Dysmenorrhea, Oligomenorrhea, Hepatic fibrosis, Hepatocellula... ORPHA:79240
Renal And Mullerian Duct Hypoplasia
Aplasia of the uterus, Anteriorly displaced urethral meatus, Hydrocele testis OMIM:266810
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Acholic stools, Biliary tract abnormality, Abnormality of the lymphatic system, Spl... ORPHA:1414
Pseudotrisomy 13 Syndrome
Dextrocardia, Complete atrioventricular canal defect, Ventricular septal defect, Microphthalmia, ... OMIM:264480
Gray Platelet Syndrome
Thrombocytopenia, Abnormality of the menstrual cycle, Splenomegaly ORPHA:721
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Hypoplasia of penis, Microphthalmia ORPHA:2547
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Lymphadenopathy, Anemia, Splenomegaly ORPHA:100024
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Testicular atrophy, Azoospermia, Hypogonadotropic hypogonadism, Decreased circulating follicle st... OMIM:308700
Kapur-Toriello Syndrome
Hypoplastic labia majora, Ventricular septal defect, Microphthalmia, Tetralogy of Fallot, Hypopla... ORPHA:2328
Dominant Beta-Thalassemia
Dilated cardiomyopathy, Adrenal insufficiency, Splenomegaly, Hepatosplenomegaly, Hypersplenism, D... ORPHA:231226
Mullerian Aplasia And Hyperandrogenism
Aplasia of the uterus, Aplasia/Hypoplasia of the fallopian tube, Amenorrhea, Abnormality of the e... OMIM:158330
Microphthalmia, Syndromic 3
Hypospadias, Ventricular septal defect, Microphthalmia, Anophthalmia, Hypogonadotropic hypogonadi... OMIM:206900
Anemia, Congenital Dyserythropoietic, Type Ib
Hepatomegaly, Erythroid hyperplasia, Anemia, Splenomegaly, Jaundice, Anisocytosis, Poikilocytosis... OMIM:615631
Fanconi Anemia, Complementation Group A
Microphthalmia, Neutropenia, Leukemia, Abnormal heart morphology, Anemia, Male infertility, Retic... OMIM:227650
Immunodeficiency 69
Thrombocytosis, Leukocytosis, Anemia, Splenomegaly, Hepatosplenomegaly, Pancytopenia OMIM:618963
Rere-Related Neurodevelopmental Syndrome
Hypospadias, Ventricular septal defect, Microphthalmia, Abnormal heart morphology, Cryptorchidism ORPHA:494344
Meckel Syndrome
True hermaphroditism, Microphthalmia, Pancreatic cysts, Asplenia, Cystic liver disease, Urethral ... ORPHA:564
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Splenomegaly OMIM:179700
Baraitser-Winter Syndrome 1
Bicuspid aortic valve, Microphthalmia, Micropenis, Cryptorchidism, Aortic valve stenosis OMIM:243310
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia OMIM:274270
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Hepatocellular necrosis, Hypoglycemia, Ascites, Depletion of mitochondrial DNA in l... OMIM:251880
Hydrolethalus
Anophthalmia, Cryptorchidism, Abnormal fallopian tube morphology, Microphthalmia ORPHA:2189
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Splenomegaly, Cirrhosis, Cholestasis, Elevated hepatic transaminase, Biliary cirrho... OMIM:617394
Fanconi Anemia, Complementation Group E
Microphthalmia, Neutropenia, Leukemia, Abnormal heart morphology, Anemia, Reticulocytopenia, Hype... OMIM:600901
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Small scrotum, Atrial septal defect, Microphthalmia, Cryptorchidism ORPHA:2728
2Q24 Microdeletion Syndrome
Microphthalmia ORPHA:1617
Portal Hypertension, Noncirrhotic, 1
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia OMIM:278780
Ehlers-Danlos Syndrome, Beasley-Cohen Type
Bilateral microphthalmos OMIM:608763
Perrault Syndrome 4
Secondary amenorrhea, Oligomenorrhea, Hypoplasia of the ovary, Increased circulating gonadotropin... OMIM:615300
Immunodeficiency 52
Lymphadenopathy, Increased proportion of gamma-delta T cells, Coombs-positive hemolytic anemia, S... OMIM:617514
Microphthalmia, Syndromic 5
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Micropenis, Ectopic posterior pituitary, Cr... OMIM:610125
Beta-Thalassemia Major
Dilated cardiomyopathy, Adrenal insufficiency, Anisopoikilocytosis, Splenomegaly, Hepatosplenomeg... ORPHA:231214
Immunodeficiency 84
B lymphocytopenia, Splenomegaly OMIM:619437
Lipodystrophy, Congenital Generalized, Type 2
Hypertrophic cardiomyopathy, Hepatomegaly, Insulin-resistant diabetes mellitus at puberty, Polycy... OMIM:269700
Hepatoportal Sclerosis
Hepatocellular carcinoma, Ascites, Leukopenia, Anemia, Nodular regenerative hyperplasia of liver,... ORPHA:64743
Kallmann Syndrome With Spastic Paraplegia
Testicular atrophy, Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hor... OMIM:308750
Linear Skin Defects With Multiple Congenital Anomalies 1
Hypospadias, Ventricular septal defect, Microphthalmia, Histiocytoid cardiomyopathy, Chordee, Cli... OMIM:309801
Kapur-Toriello Syndrome
Hypoplastic labia majora, Ventricular septal defect, Microphthalmia, Micropenis, Atrial septal de... OMIM:244300
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia OMIM:610092
Fanconi Anemia, Complementation Group S
Anemia, Ovarian neoplasm, Microphthalmia OMIM:617883
Ritscher-Schinzel Syndrome 3
Atrioventricular canal defect, Cryptorchidism, Microphthalmia OMIM:619135
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
Acquired Idiopathic Sideroblastic Anemia
Leukocytosis, Hepatomegaly, Thrombocytosis, Neutropenia, Normocytic anemia, Megaloblastic erythro... ORPHA:75564
Renal Cysts And Diabetes Syndrome
Hypospadias, Atretic vas deferens, Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Redu... OMIM:137920
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Ventricular septal defect, Pancreatic hypoplasia, Mitral valve prolapse, Azoospermi... OMIM:602782
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Amyloidosis, Familial Visceral
Hepatomegaly, Cholestasis, Splenomegaly OMIM:105200
Neonatal Lupus Erythematosus
Dilated cardiomyopathy, Hepatomegaly, Neutropenia, Elevated hepatic transaminase, Abnormal heart ... ORPHA:398124
46,Xy Sex Reversal 7
Gonadal dysgenesis, male, Sex reversal, Streak ovary, Gonadoblastoma, Hypoplasia of the fallopian... OMIM:233420
Encephalocraniocutaneous Lipomatosis
Ventricular septal defect, Microphthalmia, Hypoplasia of the iris, Subvalvular aortic stenosis, A... OMIM:613001
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Acholic stools, Elevated hepatic transaminase, Hepatitis, Splenomegaly, Cirrhosis, ... OMIM:613812
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Increased circulating progesterone, Aplasia of the uterus, Increased serum testosterone level, Fu... ORPHA:90794
Fanconi Anemia, Complementation Group F
Microphthalmia, Leukopenia, Decreased response to growth hormone stimulation test, Bone marrow hy... OMIM:603467
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Ascites, Hepatocellular carcinoma, Nodular regenerative hyperplasia of liver, Splen... OMIM:619463
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Increased pro... OMIM:618534
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Decreased proportion of class-switched memory B cells, Decreased proportion of marg... OMIM:619375
Follicular Lymphoma
Lymphadenopathy, Mediastinal lymphadenopathy, Abnormality of the peritoneum, Splenomegaly ORPHA:545
Fanconi Anemia, Complementation Group I
Ventricular septal defect, Microphthalmia, Neutropenia, Optic nerve hypoplasia, Bone marrow hypoc... OMIM:609053
Erythrocytosis, Familial, 8
Normocytic anemia, Polycythemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocyti... OMIM:222800
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Immunodeficiency 76
B lymphocytopenia, Lymphadenopathy, Splenomegaly, Lymphopenia, T lymphocytopenia OMIM:619164
8P11.2 Deletion Syndrome
Hemolytic anemia, Mitral valve prolapse, Azoospermia, Hypogonadotropic hypogonadism, Abnormality ... ORPHA:251066
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Aplasia of the uterus, Hypoparathyroidism, Abnormal heart morphology, Uterus didelphys, Parathyro... ORPHA:2237
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Lymphadenopathy, Anemia, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia, Hemophagocytosis OMIM:613101
Osteoporosis-Pseudoglioma Syndrome
Isosexual precocious puberty, Microphthalmia ORPHA:2788
Lipodystrophy, Congenital Generalized, Type 1
Hepatomegaly, Insulin-resistant diabetes mellitus at puberty, Polycystic ovaries, Labial hypertro... OMIM:608594
Immunodeficiency 14A, Autosomal Dominant
Increased proportion of transitional B cells, Decreased proportion of class-switched memory B cel... OMIM:615513
Seckel Syndrome 2
Hypospadias, Microphthalmia OMIM:606744
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Microphthalmia OMIM:120433
Microphthalmia With Brain And Digit Anomalies
Anophthalmia, Abnormality of the hypothalamus-pituitary axis, Cryptorchidism, Microphthalmia ORPHA:139471
Ornithine Transcarbamylase Deficiency
Hypoglycemia, Hepatic failure, Splenomegaly ORPHA:664
Fanconi Anemia, Complementation Group J
Microphthalmia, Bone marrow hypocellularity OMIM:609054
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Ventricular septal defect, Abnormal heart morphology, Cryptorchidism, Microphthalmia ORPHA:404440
Meckel Syndrome, Type 1
Microphthalmia, Malformation of the hepatic ductal plate, Asplenia, Bile duct proliferation, Exte... OMIM:249000
Ovarian Dysgenesis 6
Hypoplasia of the uterus OMIM:618078
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Neutropenia, Anemia, Cardiomyopathy, Pancreatitis, Splenomegaly, Thrombocytopenia ORPHA:79312
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Pigment gallstones, Cholelithiasis, Splenomegaly, Impaired neutrophil bactericidal activity, Nons... OMIM:613470
Sickle Cell Anemia
Leukocytosis, Hepatomegaly, Priapism, Cardiomegaly, Cholelithiasis, Splenomegaly, Increased red c... OMIM:603903
Immunodeficiency 54
Hepatomegaly, Adrenal insufficiency, Lymphadenopathy, Splenomegaly, Reduced natural killer cell c... OMIM:609981
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Congenital hemolytic anemia, Reduced red cell pyruvate kinase level, Anemia, Splenomegaly, Anisoc... ORPHA:766
Osteopetrosis, Autosomal Dominant 3
Anemia, Hepatomegaly, Hyperparathyroidism, Splenomegaly OMIM:618107
Anemia, Congenital Dyserythropoietic, Type Ia
Erythroid hyperplasia, Splenomegaly, Anisocytosis, Poikilocytosis, Reticulocytosis, Prolonged neo... OMIM:224120
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Left ventricular hypertrophy, Microphthalmia OMIM:613153
Wilson Disease
Hepatomegaly, Abnormality of the menstrual cycle, Hepatitis, Anemia, Acute hepatitis, Splenomegal... ORPHA:905
Meckel Syndrome, Type 4
Bile duct proliferation, Ventricular septal defect, Atrial septal defect, Microphthalmia OMIM:611134
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Hypertrophic cardiomyopathy, Hepatomegaly, Microphthalmia OMIM:619053
Multiple Benign Circumferential Skin Creases On Limbs
Hypospadias, Microphthalmia, Small scrotum, Abnormality of the scrotum, Cryptorchidism ORPHA:2505
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocytic hemolytic an... OMIM:235700
Warburg Micro Syndrome 2
Hypoplastic labia majora, Micropenis, Microphthalmia, Cryptorchidism OMIM:614225
Neuraminidase Deficiency
Hepatomegaly, Ascites, Vacuolated lymphocytes, Bone-marrow foam cells, Cardiomegaly, Cardiomyopat... OMIM:256550
Congenital Varicella Syndrome
Microphthalmia ORPHA:291
Blepharophimosis, Ptosis, And Epicanthus Inversus
Microphthalmia, Amenorrhea, Increased circulating gonadotropin level, Female infertility, Prematu... OMIM:110100
Hemoglobin E Disease
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Spontaneous abortion,... ORPHA:2133
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, F... OMIM:601859
Marden-Walker Syndrome
Hypospadias, Dextrocardia, Microphthalmia, Micropenis, Cryptorchidism OMIM:248700
Moebius Syndrome
Hypogonadotropic hypogonadism, Micropenis, Microphthalmia, Decreased testicular size OMIM:157900
Glycosylphosphatidylinositol Biosynthesis Defect 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Martsolf Syndrome 1
Microphthalmia, Hypogonadotropic hypogonadism, Cardiomyopathy, Micropenis, Cryptorchidism OMIM:212720
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Decreased circulating aldosterone level, Increased serum testosterone level, Increased circulatin... OMIM:202010
Fanconi Anemia, Complementation Group C
Ventricular septal defect, Microphthalmia, Neutropenia, Leukemia, Bone marrow hypocellularity, An... OMIM:227645
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Neutropenia, Lymphadenopathy, Fulminant hepatitis, Splenomegaly, Lymphocytosis, Hep... OMIM:308240
Immunodeficiency 27A
Leukocytosis, Enlarged mesenteric lymph node, Thrombocytosis, Lymphadenopathy, Anemia, Splenomega... OMIM:209950
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Pulmonary lymphangiectasia, Hepatomegaly, Ventricular septal defect, Ascites, Thyroid lymphangiec... OMIM:235255
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Buphthalmos, Pancreatic hypoplasia, Pancreatic cysts, Congenital hypothyroidism, He... OMIM:610199
Glycogen Storage Disease Xii
Normocytic anemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocytic hemolytic an... OMIM:611881
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Caroli Disease
Cholangitis, Leukocytosis, Hepatomegaly, Cholangiocarcinoma, Hepatic fibrosis, Ascites, Cholelith... ORPHA:53035
46,Xx Sex Reversal 2
True hermaphroditism, Sex reversal, Bifid scrotum, Azoospermia, Hypoplasia of the vagina, Micrope... OMIM:278850
Cerebrooculofacioskeletal Syndrome 1
Microphthalmia OMIM:214150
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Pericarditis, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:163596
Refsum Disease
Microphthalmia, Cardiomyopathy, Splenomegaly ORPHA:773
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Hypogonadism, Small scrotum, Microphthalmia, Cryptorchidism ORPHA:228390
Congenital Pulmonary Lymphangiectasia
Chylopericardium, Hepatomegaly, Ascites, Splenomegaly, Pulmonic stenosis ORPHA:2414
Gaucher Disease Type 1
Hepatomegaly, Pericardial effusion, Ascites, Leukopenia, Biliary tract obstruction, Anemia, Splen... ORPHA:77259
Satoyoshi Syndrome
Abnormality of the ovary, Amenorrhea, Hypoplasia of the ovary, Abnormality of the uterus, Nephrog... ORPHA:3130
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jau... OMIM:211600
Adult-Onset Still Disease
Myocarditis, Leukocytosis, Hepatomegaly, Pericarditis, Hepatitis, Bone marrow hypocellularity, Sp... ORPHA:829
Lumbar Syndrome
Hypospadias, Hypoplastic labia majora, Bifid scrotum, Bifid uterus, Micropenis, Ambiguous genital... ORPHA:83628
Posterior Meningocele
Meningocele, Occipital meningocele, Neural tube defect, Hydrocephalus, Lipomyelomeningocele ORPHA:268810
Adams-Oliver Syndrome
Microphthalmia, Ascites, Leukopenia, Congenital hepatic fibrosis, Cirrhosis, Tetralogy of Fallot,... ORPHA:974
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Hypospadias, Microphthalmia, Precocious puberty, Anophthalmia OMIM:615877
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia OMIM:610023
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Macrocytic anemia, Neonatal hypoglycemia, Cardiomyopathy, Splenomegaly OMIM:619046
Lymphoproliferative Syndrome 2
Hepatomegaly, Ascites, Lymphadenopathy, Splenomegaly, Hepatosplenomegaly, Pancytopenia, Aplastic ... OMIM:615122
Jacobsen Syndrome
Hypospadias, Ventricular septal defect, Microphthalmia, Annular pancreas, Labial hypoplasia, Macu... OMIM:147791
Omenn Syndrome
Hepatomegaly, B lymphocytopenia, Lymphadenopathy, Hypoplasia of the thymus, Anemia, Splenomegaly,... OMIM:603554
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Hepatomegaly, Anemia, Abnormality of the lymph nodes, Splenomegaly, Hepatosplenomeg... OMIM:612840
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin ORPHA:231401
Immunodeficiency, Common Variable, 1
B lymphocytopenia, Hepatomegaly, Decreased proportion of class-switched memory B cells, Neutropen... OMIM:607594
Pfapa Syndrome
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:42642
Cat Eye Syndrome
Abnormal heart morphology, Total anomalous pulmonary venous return, Biliary atresia, Microphthalmia OMIM:115470
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Ventricular septal defect, Abnormal heart morphology, Bilateral microphthalmos, Cryptorchidism, P... ORPHA:369891
Indolent Systemic Mastocytosis
Hepatomegaly, Lymphadenopathy, Abnormal mast cell morphology, Splenomegaly, Increased proportion ... ORPHA:98848
Lymphoproliferative Syndrome 1
Hepatomegaly, Pericardial effusion, Leukopenia, Lymphadenopathy, Anemia, Splenomegaly, Autoimmune... OMIM:613011
Wolman Disease
Hepatomegaly, Adrenal insufficiency, Ascites, Anemia, Bone-marrow foam cells, Splenomegaly, Adren... ORPHA:75233
Fanconi Anemia, Complementation Group D2
Microphthalmia, Neutropenia, Annular pancreas, Leukemia, Abnormal heart morphology, Bone marrow h... OMIM:227646
Vaginal Atresia
Imperforate hymen, Vaginal hematocele, Uterus didelphys, Abnormality of the uterus, Vaginal atres... ORPHA:65681
Meckel Syndrome, Type 8
Anophthalmia, Microphthalmia OMIM:613885
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Microphthalmia OMIM:212550
Micro Syndrome
Hypoplastic labia minora, Microphthalmia, Clitoral hypoplasia, Cryptorchidism, Hypoplasia of peni... ORPHA:2510
Microphthalmia, Syndromic 13
Microphthalmia OMIM:300915
Bile Acid Synthesis Defect, Congenital, 1
Hepatomegaly, Giant cell hepatitis, Acholic stools, Elevated hepatic transaminase, Splenomegaly, ... OMIM:607765
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Hepatomegaly, Splenomegaly, Cholestasis, Portal hypertension, Jaundice ORPHA:59303
Frontonasal Dysplasia 1
Microphthalmia, Tetralogy of Fallot OMIM:136760
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Aminopterin/Methotrexate Embryofetopathy
Meningocele, Anencephaly, Holoprosencephaly, Hydrocephalus, Spinal dysraphism ORPHA:1908
Meckel Syndrome, Type 5
Bile duct proliferation, Microphthalmia OMIM:611561
Leishmaniasis
Hepatomegaly, Leukopenia, Elevated hepatic transaminase, Lymphadenopathy, Anemia, Splenomegaly, A... ORPHA:507
Alg3-Cdg
Neural tube defect ORPHA:79321
Fanconi Anemia, Complementation Group L
Anemia, Micropenis, Microphthalmia, Bone marrow hypocellularity OMIM:614083
Spherocytosis, Type 1
Cholelithiasis, Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia, Jaundice OMIM:182900
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hypertrophic cardiomyopathy, Secondary amenorrhea, Hepatomegaly, Dysmenorrhea, Insulin resistance... ORPHA:280365
Microphthalmia, Isolated 5
Microphthalmia OMIM:611040
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Bicornuate uterus, Hypoplasia of the uterus, Azoospermia OMIM:601076
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Microphthalmia ORPHA:324416
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Splenomegaly, Chronic hemolytic anemia, Cholecystitis, Reticulocytosis, Jaundice OMIM:266200
Fanconi Anemia
Hypospadias, Abnormality of the hypothalamus-pituitary axis, Pyridoxine-responsive sideroblastic ... ORPHA:84
Chromosome 13Q33-Q34 Deletion Syndrome
Hypospadias, Microphthalmia, Bifid scrotum, Pulmonic stenosis, Left ventricular hypertrophy, Peno... OMIM:619148
Cat-Eye Syndrome
Microphthalmia ORPHA:195
Thrombocytopenia-Absent Radius Syndrome
Thrombocytopenia, Aplasia of the uterus, Tetralogy of Fallot, Abnormal cardiac septum morphology ORPHA:3320
Tetraamelia Syndrome 1
Microphthalmia, Asplenia, Urethral atresia, Adrenal gland agenesis, Hypoplasia of the fallopian t... OMIM:273395
Mody
Pancreatic hypoplasia, Insulin-resistant diabetes mellitus, Hyperinsulinemic hypoglycemia, Hyperg... ORPHA:552
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Cirrhosis, Intrahepatic cholestasis, Interm... OMIM:601847
Dehydrated Hereditary Stomatocytosis 2
Hepatomegaly, Anisopoikilocytosis, Increased mean corpuscular volume, Acanthocytosis, Splenomegal... OMIM:616689
Hereditary Spherocytosis
Hepatomegaly, Restrictive cardiomyopathy, Anemia, Cholelithiasis, Splenomegaly, Extramedullary he... ORPHA:822
Woodhouse-Sakati Syndrome
Decreased serum insulin-like growth factor 1, Hypogonadotropic hypogonadism, Hypoplasia of the fa... OMIM:241080
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type
Male pseudohermaphroditism, Bilateral microphthalmos OMIM:600122
Infantile Liver Failure Syndrome 3
Hepatomegaly, Splenomegaly, Hepatic steatosis, Acute hepatic failure, Cholestasis, Elevated hepat... OMIM:618641
Spondylo-Ocular Syndrome
Ventricular septal defect, Microphthalmia, Aplasia/Hypoplasia of the lens ORPHA:85194
Systemic-Onset Juvenile Idiopathic Arthritis
Lymphadenopathy, Hepatomegaly, Pericarditis, Splenomegaly ORPHA:85414
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly OMIM:615085
Tetraamelia-Multiple Malformations Syndrome
Vaginal atresia, Cryptorchidism, Microphthalmia, Septo-optic dysplasia ORPHA:3301
Primary Myelofibrosis
Leukocytosis, Hepatomegaly, Thrombocytosis, Lymphadenopathy, Anemia, Splenomegaly, Hepatosplenome... ORPHA:824
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Cardiomegaly, Asymmetric septal hypertrophy, Splenomegaly OMIM:252920
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Microvesicular hepatic steatosis, Ventricular septal defect, Hepatomegaly, Hypoglycemia, Macronod... OMIM:619418
Microphthalmia, Syndromic 11
Agenesis of pineal gland, Microphthalmia OMIM:614402
Osteopetrosis, Autosomal Recessive 4
Hepatomegaly, Anemia, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Thrombocytopenia OMIM:611490
17Q12 Microduplication Syndrome
Atrial septal defect, Microphthalmia ORPHA:261272
Müllerian Aplasia And Hyperandrogenism
Abnormality of the ovary, Abnormal vagina morphology, Increased serum testosterone level, Primary... ORPHA:247768
Short Fifth Metacarpals-Insulin Resistance Syndrome
Spherocytosis, Hyperinsulinemia, Splenomegaly ORPHA:66518
Craniotelencephalic Dysplasia
Microphthalmia, Septo-optic dysplasia ORPHA:1528
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hepatomegaly, Increased red cell hemolysis by shear stress, Hepatitis, Cholelithiasis, Splenomega... OMIM:194380
Budd-Chiari Syndrome
Hepatomegaly, Ascites, Peritonitis, Splenomegaly, Cirrhosis, Acute hepatic failure, Cholecystitis... ORPHA:131
Fryns Syndrome
Hypospadias, Microphthalmia, Bicornuate uterus, Tetralogy of Fallot, Abnormal cardiac septum morp... ORPHA:2059
Isolated Biliary Atresia
Hepatomegaly, Acholic stools, Elevated hepatic transaminase, Atretic gallbladder, Bile duct proli... ORPHA:30391
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microphthalmia OMIM:251270
Pagod Syndrome
Abnormality of the spleen, Abnormal morphology of female internal genitalia, Situs inversus total... ORPHA:991
Woodhouse-Sakati Syndrome
Streak ovary, Insulin-resistant diabetes mellitus, Hypoplasia of the fallopian tube, Decreased se... ORPHA:3464
Harderoporphyria
Hepatomegaly, Splenomegaly, Reticulocytosis, Prolonged neonatal jaundice, Hemolytic anemia OMIM:618892
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Microphthalmia ORPHA:1473
Histiocytoid Cardiomyopathy
Hepatomegaly, Ventricular septal defect, Microphthalmia, Hypoglycemia, Congenital aphakia, Polycy... ORPHA:137675
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Hypospadias, Macroorchidism, Unilateral microphthalmos, Mitral valve prolapse OMIM:618874
Griscelli Syndrome Type 2
Hepatomegaly, Neutropenia, Lymphadenopathy, Splenomegaly, Pancytopenia, Hemophagocytosis, Jaundice ORPHA:79477
Holoprosencephaly
Abnormality of the spleen, Ventricular septal defect, Microphthalmia, Diabetes insipidus, Hypogly... ORPHA:2162
Griscelli Syndrome
Hepatomegaly, Ascites, Leukopenia, Lymphadenopathy, Hepatitis, Bone marrow hypocellularity, Splen... ORPHA:381
Sea-Blue Histiocytosis
Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis ORPHA:158029
Parenteral Nutrition-Associated Cholestasis
Hepatomegaly, Hepatic fibrosis, Cholelithiasis, Splenomegaly, Biliary hyperplasia, Cirrhosis, Hep... ORPHA:567983
Microcephaly 20, Primary, Autosomal Recessive
Optic nerve hypoplasia, Microphthalmia OMIM:617914
Thrombocythemia 1
Thrombocytosis, Splenomegaly OMIM:187950
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased B cell count, Hepatomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-be... OMIM:603909
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Hepatomegaly, Acute leukemia, Lymphadenopathy, Bone marrow hypocellularity, Splenom... ORPHA:3226
Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects
Ventricular septal defect, Microphthalmia, Atrioventricular canal defect, Atrial septal defect, T... OMIM:600123
Seckel Syndrome 7
Central hypothyroidism, Primary amenorrhea, Hypoplasia of the uterus OMIM:614851
Aredyld Syndrome
Hepatomegaly, Type II diabetes mellitus, Type I diabetes mellitus, Splenomegaly ORPHA:1133
Meckel Syndrome, Type 2
Bile duct proliferation, Microphthalmia OMIM:603194
Bile Acid Synthesis Defect, Congenital, 2
Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Hepatic failure, Intrahepatic cholesta... OMIM:235555
Kaposiform Lymphangiomatosis
Pericardial effusion, Pancreatic cysts, Abnormal lymphatic vessel morphology, Lymphangioma, Abnor... ORPHA:464329
Autoimmune Hepatitis
Hepatocellular carcinoma, Ascites, Fulminant hepatitis, Acute hepatitis, Splenomegaly, Diffuse he... ORPHA:2137
Macrophage Activation Syndrome
Hepatomegaly, Neutropenia, Lymphadenopathy, Hepatitis, Anemia, Splenomegaly, Decreased liver func... ORPHA:158061
Craniotelencephalic Dysplasia
Optic nerve hypoplasia, Microphthalmia OMIM:218670
Mosaic Trisomy 1
Ventricular septal defect, Microphthalmia, Hepatic agenesis, Micropenis, Penile hypospadias ORPHA:1692
Aarskog-Scott Syndrome
Testicular atrophy, Elevated circulating follicle stimulating hormone level, Bilateral cryptorchi... OMIM:305400
Temtamy Syndrome
Microphthalmia ORPHA:1777
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Aplasia of the uterus, Hypoparathyroidism, Uterus didelphys, Septate vagina, Primary amenorrhea, ... OMIM:146255
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Microphthalmia, Anophthalmia, External genital hypoplasia, Hypogonadism, Cryptorchidism, Hypoplas... ORPHA:2250
Adams-Oliver Syndrome 2
Microphthalmia OMIM:614219
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Complete atrioventricular canal defect, Microphthalmia, Uterus didelphys, Absent gallbladder, Mic... OMIM:617925
American Trypanosomiasis
Myocarditis, Hepatomegaly, Lymphadenopathy, Cardiomyopathy, Splenomegaly ORPHA:3386
Isolated Optic Nerve Hypoplasia/Aplasia
Optic disc hypoplasia, Optic nerve hypoplasia, Unilateral microphthalmos, Aplasia/Hypoplasia of t... ORPHA:137902
Mayer-Rokitansky-Kuster-Hauser Syndrome
Amenorrhea, Aplasia of the vagina, Hypoplasia of the uterus OMIM:277000
Walker-Warburg Syndrome
Anophthalmia, Cryptorchidism, Hypoplasia of penis, Microphthalmia ORPHA:899
Congenital Primary Aphakia
Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Microphthalmia ORPHA:83461
Holoprosencephaly-Postaxial Polydactyly Syndrome
Hypospadias, Microphthalmia, Thyroid hypoplasia, Abnormality of the hypothalamus-pituitary axis, ... ORPHA:2166
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Testicular atrophy, Secondary amenorrhea, Primary amenorrhea, Premature ovarian insufficiency, Hy... OMIM:157640
Microgastria-Limb Reduction Defect Syndrome
Abnormality of the spleen, Perineal fistula, Hepatomegaly, Truncus arteriosus, Microphthalmia, Re... ORPHA:2538
Adams-Oliver Syndrome 5
Right ventricular hypertrophy, Splenomegaly, Pulmonic stenosis, Hypersplenism, Right atrial enlar... OMIM:616028
Cold Agglutinin Disease
Lymphadenopathy, Hepatomegaly, Hemolytic anemia, Splenomegaly ORPHA:56425
Primary Sclerosing Cholangitis
Neoplasm of the gallbladder, Cholangiocarcinoma, Hepatitis, Splenomegaly, Hepatosplenomegaly, Typ... ORPHA:171
Mucopolysaccharidosis, Type Iiia
Hepatomegaly, Asymmetric septal hypertrophy, Splenomegaly OMIM:252900
Cohen Syndrome
Ventricular septal defect, Microphthalmia, Mitral valve prolapse, Neutropenia, Cryptorchidism, De... ORPHA:193
Hydrolethalus Syndrome 1
Hypospadias, Complete atrioventricular canal defect, Abnormal vagina morphology, Ventricular sept... OMIM:236680
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Lymphadenopathy, Splenomegaly, Intermitte... OMIM:150550
Felty Syndrome
Hepatomegaly, Pericarditis, Neutropenia, Lymphadenopathy, Abnormal lymphocyte morphology, Bone ma... ORPHA:47612
Thrombocytopenia-Absent Radius Syndrome
Leukocytosis, Ventricular septal defect, Aplasia of the uterus, Pancreatic cysts, Anemia, Hepatos... OMIM:274000
Q Fever
Myocarditis, Hepatomegaly, Pericarditis, Pericardial effusion, Endocarditis, Lymphadenopathy, Hep... ORPHA:781
Baraitser-Winter Syndrome 2
Microphthalmia OMIM:614583
Legionnaires Disease
Myocarditis, Pericarditis, Endocarditis, Lymphadenopathy, Hepatitis, Bone marrow hypocellularity,... ORPHA:549
Immunodeficiency With Hyper-Igm, Type 1
Hepatomegaly, Neutropenia, Thrombocytopenia, Sclerosing cholangitis, Hepatitis, Splenomegaly, Cir... OMIM:308230
Niemann-Pick Disease, Type A
Hepatomegaly, Ascites, Lymphadenopathy, Bone-marrow foam cells, Splenomegaly, Elevated circulatin... OMIM:257200
Sandestig-Stefanova Syndrome
Perimembranous ventricular septal defect, Microphthalmia, Muscular ventricular septal defect OMIM:618804
Hereditary Elliptocytosis
Congenital hemolytic anemia, Stomatocytosis, Cholelithiasis, Splenomegaly, Jaundice, Poikilocytos... ORPHA:288
Oculoskeletodental Syndrome
Hepatomegaly, Cryptorchidism, Hypothyroidism, Splenomegaly OMIM:618440
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Mitral stenosis, Splenomegaly, Aortic val... OMIM:231005
Hartsfield Syndrome
Microphthalmia ORPHA:2117
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Patent foramen ovale, Lens coloboma, Microphthalmia, Pulmonic stenosis OMIM:618914
Dehydrated Hereditary Stomatocytosis
Congenital hemolytic anemia, Macrocytic anemia, Schistocytosis, Increased mean corpuscular volume... ORPHA:3202
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Hepatomegaly, Anemia, Splenomegaly, Jaundice, Exocrine pancreatic insufficiency, Anemia of inadeq... OMIM:612714
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Pancreatic cysts, Hepatic cysts, Splenomegaly, Portal hypertension, Periportal fibr... OMIM:263200
Adams-Oliver Syndrome 1
Bicuspid aortic valve, Ventricular septal defect, Imperforate hymen, Microphthalmia, Pulmonic ste... OMIM:100300
Whipple Disease
Myocarditis, Hepatomegaly, Pericarditis, Mediastinal lymphadenopathy, Insulin resistance, Anemia,... ORPHA:3452
Microphthalmia With Linear Skin Defects Syndrome
Hypospadias, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Abnormal penis morphology, Micr... ORPHA:2556
Fish-Eye Disease
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:79292
Omenn Syndrome
Leukocytosis, Hepatomegaly, Lymphadenopathy, Abnormal lymphocyte morphology, Anemia, Splenomegaly... ORPHA:39041
Satoyoshi Syndrome
Amenorrhea, Hypoplasia of the uterus OMIM:600705
Kennerknecht Syndrome
Agonadism, Hypoplasia of the uterus OMIM:600908
Polycythemia Vera
Thrombocytosis, Leukocytosis, Increased red blood cell mass, Splenomegaly, Increased hematocrit, ... OMIM:263300
Microphthalmia, Isolated 3
Anophthalmia, Microphthalmia OMIM:611038
Gaucher Disease, Type I
Hepatomegaly, Anemia, Splenomegaly, Hypersplenism, Pancytopenia, Thrombocytopenia, Aortic valve s... OMIM:230800
Basel-Vanagaite-Smirin-Yosef Syndrome
Hypospadias, Ventricular septal defect, Microphthalmia, Male urethral meatus stenosis, Cholelithi... ORPHA:464738