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Gene: Rac1 MGI:97845

Gene Summary

Name:

Rac family small GTPase 1

Synonyms:

D5Ertd559e

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
increased circulating alkaline phosphatase level	Rac1^em1(IMPC)Mbp	HET	Early adult	3.17×10^-05
abnormal spleen morphology	Rac1^em1(IMPC)Mbp	HET	Early adult	0.00
small kidney	Rac1^em1(IMPC)Mbp	HET	Early adult	0.00
embryonic lethality prior to organogenesis	Rac1^em1(IMPC)Mbp	HOM	E9.5	0.00
microphthalmia	Rac1^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal lymph node morphology	Rac1^em1(IMPC)Mbp	HET	Early adult	0.00
small heart	Rac1^em1(IMPC)Mbp	HET	Early adult	0.00
preweaning lethality, complete penetrance	Rac1^em1(IMPC)Mbp	HOM	Early adult	0.00
anophthalmia	Rac1^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal testis morphology	Rac1^em1(IMPC)Mbp	HET	Early adult	0.00
decreased mean corpuscular hemoglobin	Rac1^em1(IMPC)Mbp	HET	Early adult	8.11×10^-05
hyperactivity	Rac1^em1(IMPC)Mbp	HET	Early adult	1.87×10^-11
enlarged spleen	Rac1^em1(IMPC)Mbp	HET	Early adult	0.00
small testis	Rac1^em1(IMPC)Mbp	HET	Early adult	0.00
enlarged lymph nodes	Rac1^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal heart morphology	Rac1^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal eye morphology	Rac1^em1(IMPC)Mbp	HET	Early adult	0.00

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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

102 Images

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X-ray

XRay Images Whole Body Lateral Orientation

34 Images

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Gross Morphology Embryo E9.5

Images

4 Images

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Histopathology

Images

9 Images

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Human diseases caused by Rac1 mutations

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

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

Human diseases associated with Rac1 (2 diseases)
Human diseases predicted to be associated with Rac1 (943 diseases)

The table below shows human diseases associated to Rac1 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Intellectual Developmental Disorder, Autosomal Dominant 48		Hypospadias, Ventricular septal defect, Bicuspid aortic valve, Hyperactivity, Motor stereotypy	OMIM:617751
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom		Hypospadias, Abnormal heart morphology, Cryptorchidism, Patent foramen ovale, Ventricular septal ...	ORPHA:500159

The table below shows human diseases predicted to be associated to Rac1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Hemoglobin D Disease	Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno...	ORPHA:90039
Hepatic Venoocclusive Disease With Immunodeficiency	Abnormality of the liver, Endocardial fibrosis, Absence of lymph node germinal center	OMIM:235550
Microphthalmia, Syndromic 12	Hypoplastic left atrium, Cryptorchidism, Anophthalmia, Ventricular septal defect, Microphthalmia,...	OMIM:615524
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Infertility, Abnormal lymph node morphology	OMIM:136580
Gombo Syndrome	Abnormal heart morphology, Delayed puberty, Microphthalmia	OMIM:233270
Mantle Cell Lymphoma	Lymphadenopathy, Splenomegaly, Anorexia	ORPHA:52416
Immunodeficiency 38 With Basal Ganglia Calcification	Axillary lymphadenopathy, Inguinal lymphadenopathy, Lymphadenopathy	OMIM:616126
Matthew-Wood Syndrome	Renal hypoplasia, Annular pancreas, Abnormality of the uterus, Horseshoe kidney, Vesicoureteral r...	ORPHA:2470
Reticuloendotheliosis, X-Linked	Anemia, Jaundice, Hepatosplenomegaly, Lymphadenopathy	OMIM:312500
Squamous Cell Carcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99977
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Splenomegaly	ORPHA:2274
Hemoglobin H Disease	HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia	OMIM:613978
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Anophthalmia, Microphthalmia	ORPHA:85275
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Anemia, Hepatomegaly, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Pulmonary Nodular Lymphoid Hyperplasia	Mediastinal lymphadenopathy, Follicular hyperplasia, Plasmacytosis	ORPHA:60026
Meckel Syndrome, Type 8	Anophthalmia, Ambiguous genitalia, Microphthalmia, Pericardial effusion, Polycystic kidney dyspla...	OMIM:613885
Microphthalmia, Isolated 1	Anophthalmia, Microphthalmia	OMIM:251600
Beta-Thalassemia, Dominant Inclusion Body Type	Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat...	OMIM:603902
Hemochromatosis, Type 2B	Hepatic fibrosis, Increased circulating iron concentration, Cardiomyopathy, Increased circulating...	OMIM:613313
Congenital Toxoplasmosis	Ascites, Cardiomegaly, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Microphthalmia, Anemia, J...	ORPHA:858
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin	ORPHA:231393
Microphthalmia/Coloboma 10	Anophthalmia, Microphthalmia	OMIM:616428
Microphthalmia, Syndromic 9	Hypoplastic left atrium, Renal hypoplasia, Multilobulated spleen, Bilateral microphthalmos, Tetra...	OMIM:601186
Hemoglobin E-Beta-Thalassemia Syndrome	Anemia, Abnormal hemoglobin, Increased circulating ferritin concentration	ORPHA:231249
Anemia, Congenital Dyserythropoietic, Type Iv	Persistence of hemoglobin F, Hepatosplenomegaly, Hyperbilirubinemia, Anemia of inadequate product...	OMIM:613673
Microphthalmia/Coloboma 5	Anophthalmia, Bilateral microphthalmos, Microphthalmia	OMIM:611638
Laryngeal Neuroendocrine Tumor	Increased serum serotonin, Neuroendocrine neoplasm, Oral-pharyngeal dysphagia, Chronic noninfecti...	ORPHA:100083
Beta-Thalassemia	Cholelithiasis, Hepatitis, Microcytic anemia, Hypertrophic cardiomyopathy, Abnormal hemoglobin, S...	ORPHA:848
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hepatitis, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Autoimmune th...	ORPHA:444463
Hemoglobin E Disease	Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega...	ORPHA:2133
Congenital Amegakaryocytic Thrombocytopenia	Anemia, Abnormal cardiac septum morphology, Abnormal hemoglobin, Thrombocytopenia	ORPHA:3319
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Hypertriglyceridemi...	OMIM:603552
Mmep Syndrome	Ventricular septal defect, Cryptorchidism, Microphthalmia	ORPHA:3434
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Oculocerebrocutaneous Syndrome	Cryptorchidism, Anophthalmia, Microphthalmia	OMIM:164180
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Immunodeficiency 104	Hepatomegaly, T lymphocytopenia, Splenomegaly, Lymphadenopathy	OMIM:608971
Immunodeficiency 75 With Lymphoproliferation	Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Follicular hyperplasia...	OMIM:619126
Trisomy 13	Abnormal morphology of female internal genitalia, Abnormality of the ureter, Cryptorchidism, Anop...	ORPHA:3378
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Increased circulating iron concentration, Reduced red cell pyruvate kinase level, Increased circu...	ORPHA:766
Hemochromatosis, Type 2A	Increased circulating iron concentration, Dilated cardiomyopathy, Cardiomyopathy, Increased circu...	OMIM:602390
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
8p23.1 deletion syndrome	Abnormal heart morphology, Atrioventricular canal defect, Cryptorchidism, Atrial septal defect, H...	DECIPHER:39
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly, 3-Methylglutaconic aciduria	OMIM:619813
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Burkitt Lymphoma	Abnormal lymph node morphology, Abnormality of the ovary, Abnormality of the spleen, Abnormality ...	ORPHA:543
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Hemochromatosis, Type 1	Increased circulating iron concentration, Cardiomyopathy, Increased circulating ferritin concentr...	OMIM:235200
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Cryptorchidism, Ventricular septal defect, Microphthalmia, Hepatomegaly, Ectopic kidney, Cystic r...	OMIM:613730
Alpha-Heavy Chain Disease	Ascites, Splenomegaly, Hypocalcemia, Hepatomegaly, Lymphadenopathy, Anemia	ORPHA:100025
Immunodeficiency 27A	Hypoalbuminemia, Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Splenomegaly, Lymphadenopathy,...	OMIM:209950
Kerion Celsi	Lymphadenopathy	ORPHA:499
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy...	ORPHA:251380
Fryns Microphthalmia Syndrome	Unicornuate uterus, Anophthalmia, Microphthalmia	OMIM:600776
Autoinflammation With Episodic Fever And Lymphadenopathy	Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly	OMIM:618852
Congenital Rubella Syndrome	Type I diabetes mellitus, Splenomegaly, Aplasia/Hypoplasia of the iris, Ventricular septal defect...	ORPHA:290
Microphthalmia, Isolated 4	Absent testis, Microphthalmia	OMIM:613094
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Hepatomegaly, Lymphadenopathy, Splenomegaly, Anorexia	ORPHA:86893
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Splenomegaly,...	OMIM:613101
Hyperbilirubinemia, Shunt, Primary	Erythroid hyperplasia, Hyperbilirubinemia, Splenomegaly, Anemia of inadequate production, Reticul...	OMIM:237800
Mu-Heavy Chain Disease	Nephropathy, Bence Jones Proteinuria, Abnormal B cell count, Splenomegaly, Hepatomegaly, Lymphade...	ORPHA:100024
Alpha-Thalassemia	Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenome...	ORPHA:846
Anemia, Hypochromic Microcytic, With Iron Overload 2	Increased circulating ferritin concentration, Hypogonadism, Sideroblastic anemia, Azoospermia, Sp...	OMIM:615234
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Abnormal lymph node morphology, Abnormality of the lymphatic system, Elevated circulating C-react...	ORPHA:54251
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ...	OMIM:615559
Hypereosinophilic Syndrome, Idiopathic	Restrictive cardiomyopathy, Endocardial fibrosis, Splenomegaly, Eosinophilia, Hepatomegaly, Myelo...	OMIM:607685
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Hepatomegaly, Microphthalmia	ORPHA:2432
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Cryptorchidism, Anophthalmia, Ventricular septal defect, Microphthalmia, Hypoplasia of penis, Hyp...	ORPHA:77298
Adenocarcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99976
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Jaundice, Elevated urinary delta-aminolevulinic acid, Splenomegaly, Nonspherocytic hemolytic anemia	OMIM:206400
Hemoglobin-Delta locus	Anemia, Imbalanced hemoglobin synthesis	OMIM:142000
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Increased circulating ferritin concentration, Hepatosplenomegaly, Erythroid hyperplasia, Type II ...	OMIM:616860
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Recurrent pancreatitis, Splenomegaly, Hyperlipoproteinemia	OMIM:118830
Proteasome-Associated Autoinflammatory Syndrome 5	Hepatomegaly, Splenomegaly, Hypertriglyceridemia	OMIM:619175
Biemond Syndrome Type 2	Hypogonadism, Hypogonadotropic hypogonadism, Delayed puberty, Microphthalmia, Hypospadias	ORPHA:141333
Lymphoproliferative Syndrome 1	Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Leukopenia, Decreas...	OMIM:613011
Triokinase And Fmn Cyclase Deficiency Syndrome	Hypoalbuminemia, Dilated cardiomyopathy, Microcytic anemia, Hepatic steatosis, Pancreatitis, Micr...	OMIM:618805
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Fluctuating splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia in presence o...	OMIM:619220
Premature Ovarian Failure 12	Microphthalmia, Primary amenorrhea	OMIM:616947
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Motor stereotypy, Anophthalmia	ORPHA:411986
Congenital Fibrinogen Deficiency	Hemorrhagic ovarian cyst, Decreased testicular size, Left ventricular hypertrophy, Splenic ruptur...	ORPHA:335
Immunodeficiency 52	Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell count, Decreased propor...	OMIM:617514
Fanconi Anemia, Complementation Group G	Microphthalmia, Anemia, Neutropenia, Thrombocytopenia, Leukemia	OMIM:614082
Trimethylaminuria	Anemia, Trimethylaminuria, Splenomegaly, Neutropenia	OMIM:602079
Erythroleukemia, Familial, Susceptibility To	Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen...	OMIM:133180
Dihydropyrimidine Dehydrogenase Deficiency	Uraciluria, Hyperactivity, Elevated urinary dihydrothymine level, Microphthalmia	OMIM:274270
Trisomy 1Q	Small scrotum, Multicystic kidney dysplasia, Cryptorchidism, Anophthalmia, Ventricular septal def...	ORPHA:261344
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Hepatomegaly, Thrombocytopenia, Neutropen...	OMIM:615285
Microcephaly-Microcornea Syndrome, Seemanova Type	Hypogonadism, Microphthalmia	ORPHA:2528
Meckel Syndrome	Accessory spleen, Multicystic kidney dysplasia, Situs inversus totalis, Cryptorchidism, Anophthal...	ORPHA:564
Immunodeficiency 69	Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Pancytopenia,...	OMIM:618963
Xk Aprosencephaly Syndrome	Ventricular septal defect, Atrial septal defect, Abnormal external genitalia, Microphthalmia	ORPHA:3469
Cholestasis, Progressive Familial Intrahepatic, 12	Cholestasis, Hyperbilirubinemia, Splenomegaly, Increased serum bile acid concentration, Proteinur...	OMIM:620010
Leishmaniasis	Hypoalbuminemia, Pancytopenia, Leukopenia, Abnormal macrophage morphology, Splenomegaly, Hepatome...	ORPHA:507
Niemann-Pick Disease, Type B	Sea-blue histiocytosis, Decreased HDL cholesterol concentration, Increased LDL cholesterol concen...	OMIM:607616
Microphthalmia/Coloboma 6	Hypoplasia of the fovea, Optic disc hypoplasia, Bilateral microphthalmos	OMIM:613703
Osteopetrosis, Autosomal Recessive 8	Unilateral microphthalmos, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia	OMIM:615085
Adams-Oliver Syndrome 4	Ventricular septal defect, Atrial septal defect, Microphthalmia	OMIM:615297
Congenital Disorder Of Glycosylation, Type Ik	Hypogonadism, Hepatomegaly, Splenomegaly, Cardiomyopathy	OMIM:608540
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia	ORPHA:231401
Mast Cell Sarcoma	Mastocytosis, Splenomegaly, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy	ORPHA:66661
Microphthalmia/Coloboma 4	Microphthalmia	OMIM:251505
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Decreased helper T cell proportion, Pancytopenia, Splenomegaly, Hypersplenism	OMIM:183350
Hereditary Amyloidosis With Primary Renal Involvement	Nephropathy, Abnormal urinary electrolyte concentration, Abnormal lymph node morphology, Hepatosp...	ORPHA:85450
Heme Oxygenase 1 Deficiency	Nephritis, Increased circulating ferritin concentration, Cervical lymphadenopathy, Hematuria, Hep...	OMIM:614034
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Splenomegaly, Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic an...	OMIM:619375
Beta-Thalassemia Intermedia	Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Anemia of inadequa...	ORPHA:231222
Microphthalmia, Syndromic 5	Ectopic posterior pituitary, Cryptorchidism, Anophthalmia, Microphthalmia, Micropenis, Optic nerv...	OMIM:610125
Ziegler-Huang Syndrome	Bone marrow hypocellularity, Persistence of hemoglobin F, Hypogonadism, Cryptorchidism, Macrocyti...	OMIM:620501
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Decreased proportion of class-switched memory B cells, Increased proportion of tran...	OMIM:615513
Ras-Associated Autoimmune Leukoproliferative Disorder	Pancytopenia, Splenomegaly, Follicular hyperplasia, Hepatomegaly, Lymphocytosis, Neutropenia, Mon...	OMIM:614470
Granulomatous Slack Skin	Acute kidney injury, Hypercalcemia, Nephrocalcinosis, Abnormal lymph node morphology	ORPHA:33111
Familial Papillary Or Follicular Thyroid Carcinoma	Follicular thyroid carcinoma, Abnormal lymph node morphology, Goiter, Chronic noninfectious lymph...	ORPHA:319487
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Hb Bart'S Hydrops Fetalis	Splenomegaly, Abnormal hemoglobin, Hepatomegaly, Anemia, Pericarditis	ORPHA:163596
Cholestasis, Progressive Familial Intrahepatic, 10	Hypoalbuminemia, Portal fibrosis, Increased total bilirubin, Splenomegaly, Increased serum bile a...	OMIM:619868
Anemia, Congenital Dyserythropoietic, Type Ib	Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos...	OMIM:615631
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Cervica...	OMIM:618534
Immunodeficiency 76	Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia	OMIM:619164
Leukocyte Adhesion Deficiency, Type Iii	Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocytosis, S...	OMIM:612840
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, Splenomegaly, Decre...	OMIM:300853
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Neonatal Severe Primary Hyperparathyroidism	Aminoaciduria, Abnormal circulating calcium-phosphate regulating hormone concentration, Abnormali...	ORPHA:417
Neurooculocardiogenitourinary Syndrome	Bilateral cryptorchidism, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Atrial s...	OMIM:618652
Galactosemia Iii	Aminoaciduria, Galactosuria, Splenomegaly, Hepatomegaly, Jaundice, Hypergalactosemia	OMIM:230350
Immunodeficiency 16	Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly	OMIM:615593
Kimura Disease	Eosinophilia, Abnormal salivary gland morphology, Follicular hyperplasia, Lymphadenopathy	ORPHA:482
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Cardiomyopathy, Anorexia, Renal insufficiency, Splenomegaly, Hyperammonemia, Hepatomegaly, Pancre...	ORPHA:79312
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia	OMIM:251700
Hydrolethalus	Abnormal fallopian tube morphology, Cryptorchidism, Anophthalmia, Microphthalmia	ORPHA:2189
Dehydrated Hereditary Stomatocytosis	Cholelithiasis, Neonatal hyperbilirubinemia, Increased mean corpuscular volume, Polycythemia, Inc...	ORPHA:3202
Cockayne Syndrome Type 2	Hepatomegaly, Male hypogonadism, Cryptorchidism, Anophthalmia	ORPHA:90322
Immunodeficiency 103, Susceptibility To Fungal Infections	Decreased circulating iron concentration, Hypereosinophilia, Abnormal B cell count, Abnormal prop...	OMIM:212050
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Abnormal lymph node morphology, Goiter, Chronic noninfectious lymphadenopathy, Papillary thyroid ...	ORPHA:97290
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Abnormally low T cell receptor excision circle level, Genital ulcers, Lymphopenia, Lymph node hyp...	OMIM:602450
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hypocholesterolemia, Hypersplenism, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia	OMIM:610539
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Hyperbilirubinemia, Reticulocytosis, Intermittent jaundice	OMIM:179700
Microphthalmia, Syndromic 16	Anophthalmia, Microphthalmia	OMIM:611038
Microphthalmia With Brain And Digit Anomalies	Abnormality of the hypothalamus-pituitary axis, Cryptorchidism, Anophthalmia, Microphthalmia	ORPHA:139471
Follicular Lymphoma	Mediastinal lymphadenopathy, Splenomegaly, Abnormal peritoneum morphology, Lymphadenopathy	ORPHA:545
Primary Myelofibrosis	Extramedullary hematopoiesis, Anorexia, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomeg...	ORPHA:824
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ...	ORPHA:75564
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Hepatosplenomegaly, Increased LDL cholesterol concentration, Splenomeg...	OMIM:616828
Immunodeficiency With Hyper-Igm, Type 5	Epididymitis, Lymphadenopathy	OMIM:608106
Nanophthalmos	Microphthalmia	ORPHA:35612
Lymphoproliferative Syndrome 3	Reduced natural killer cell count, Hepatosplenomegaly, Lymphadenopathy	OMIM:618261
Walker-Warburg Syndrome	Abnormal circulating creatine kinase concentration, Cryptorchidism, Anophthalmia, Microphthalmia,...	ORPHA:899
Gracile Bone Dysplasia	Ascites, Aniridia, Hypocalcemia, Microphthalmia, Micropenis, Asplenia, Hypoplastic spleen	OMIM:602361
Symptomatic Form Of Hfe-Related Hemochromatosis	Abnormality of iron homeostasis, Cardiomyopathy, Increased circulating ferritin concentration, De...	ORPHA:465508
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Ascites, Abnormality of the ureter, Splenomegaly, Anemia, Hypoplasia of penis, Hypospadias	ORPHA:1046
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Microgastria-Limb Reduction Defect Syndrome	Multicystic kidney dysplasia, Horseshoe kidney, Abnormality of the spleen, Crossed fused renal ec...	ORPHA:2538
Lymphoproliferative Syndrome, X-Linked, 1	Hypoalbuminemia, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal...	OMIM:308240
Immunodeficiency 105	Reduced natural killer cell count, Absence of lymph node germinal center, Lymphopenia, Hepatosple...	OMIM:619924
Harderoporphyria	Neonatal hyperbilirubinemia, Increased circulating ferritin concentration, Increased urinary porp...	OMIM:618892
Dehydrated Hereditary Stomatocytosis 2	Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy...	OMIM:616689
Anencephaly 2	Anophthalmia	OMIM:619452
Familial Cold Autoinflammatory Syndrome 2	Elevated circulating C-reactive protein concentration, Leukocytosis, Splenomegaly, Lymphadenopathy	OMIM:611762
Pyruvate Kinase Deficiency Of Red Cells	Cholelithiasis, Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Reticulocytosis, S...	OMIM:266200
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Reduced natural killer cell count, Hemophagocytosis, Abnormal renal physiology, Increased circula...	ORPHA:158057
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased B cell count, Hepatosplenomegaly, Lymphadenopathy, Increased proportion of memory T cells	OMIM:618982
Autoimmune Lymphoproliferative Syndrome, Type Iia	Nephritis, Chronic noninfectious lymphadenopathy, Autoimmune hemolytic anemia, Splenomegaly, Foll...	OMIM:603909
Hypertriglyceridemia, Transient Infantile	Hepatic fibrosis, Hepatic steatosis, Splenomegaly, Hypertriglyceridemia, Hepatomegaly	OMIM:614480
Cerebrooculonasal Syndrome	Hypoplasia of penis, Anophthalmia	ORPHA:66625
Desmoplastic Small Round Cell Tumor	Ascites, Hepatomegaly, Lymphadenopathy, Testicular neoplasm, Abnormal peritoneum morphology, Anem...	ORPHA:83469
Immunodeficiency 115 With Autoinflammation	Hypoalbuminemia, Elevated haptoglobin level, Intestinal lymphangiectasia, Abnormal circulating cr...	OMIM:620632
Splenoportal Vascular Anomalies	Hepatic fibrosis, Ascites, Hyperammonemia, Splenomegaly, Cirrhosis, Anomalous splenoportal venous...	OMIM:271500
Dominant Beta-Thalassemia	Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopituitarism,...	ORPHA:231226
Schnitzler Syndrome	Leukocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia	ORPHA:37748
Cerebrooculofacioskeletal Syndrome 3	Microphthalmia	OMIM:616570
Rosaï-Dorfman Disease	Anemia, Lymphadenopathy	ORPHA:158014
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Splenomegaly, Generalized lymphadenopathy, Absent circulating B cells, Hypertriglyc...	OMIM:620282
Persistent Polyclonal B-Cell Lymphocytosis	Hepatomegaly, Lymphocytosis, Splenomegaly	OMIM:606445
Cockayne Syndrome Type 1	Male hypogonadism, Renal insufficiency, Cryptorchidism, Anophthalmia, Proteinuria, Hepatomegaly, ...	ORPHA:90321
Microphthalmia, Isolated 8	True anophthalmia, Optic nerve hypoplasia, Anophthalmia, Microphthalmia	OMIM:615113
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Cholecystit...	OMIM:235700
Glut1 Deficiency Syndrome 2	Splenomegaly, Hemolytic anemia, Reticulocytosis, Reduced haptoglobin level	OMIM:612126
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Beta-Thalassemia Major	Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopituitarism,...	ORPHA:231214
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Unilateral renal agenesis, Renal hypoplasia, Abnormal heart morphology, Cryptorchidism, Patent fo...	OMIM:618494
Cofs Syndrome	Hypogonadism, Microphthalmia	ORPHA:1466
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
Nanophthalmos 4	Microphthalmia	OMIM:615972
Cyanosis, Transient Neonatal	Reticulocytosis, Methemoglobinemia, Hepatomegaly, Anemia, Jaundice	OMIM:613977
Anemia, Congenital Dyserythropoietic, Type Ii	Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice	OMIM:224100
Tyrosinemia Type 1	Hepatomegaly, Generalized aminoaciduria, Splenomegaly, Hepatocellular carcinoma	ORPHA:882
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Hypogonadism, External genital hypoplasia, Cryptorchidism, Microphthalmia	ORPHA:363741
Tafro Syndrome	Ascites, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Renal insufficiency, Hepatomegaly, Eleva...	ORPHA:457077
Autoimmune Lymphoproliferative Syndrome	Chronic noninfectious lymphadenopathy, Autoimmune hemolytic anemia, Splenomegaly, Follicular hype...	OMIM:601859
Wolfram Syndrome 1	Hydroureter, Cardiomyopathy, Sideroblastic anemia, Hydronephrosis, Hypothyroidism, Megaloblastic ...	OMIM:222300
Isolated Follicle Stimulating Hormone Deficiency	Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Decreas...	ORPHA:52901
Fanconi Anemia, Complementation Group F	Bone marrow hypocellularity, Renal hypoplasia, Microphallus, Decreased response to growth hormone...	OMIM:603467
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Follicular hyperplasia, Decrea...	OMIM:619846
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Elevated circulating creatine kinase concentration, Cardiomyopathy, Microphthalmia	OMIM:613155
Rere-Related Neurodevelopmental Syndrome	Self-injurious behavior, Hypospadias, Abnormal heart morphology, Vesicoureteral reflux, Cryptorch...	ORPHA:494344
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Cardiomyopathy, Splenomegaly, Macrocytic anemia, Hyperprolinemia, Hyperalaninemia, Increased seru...	OMIM:619046
Castleman Disease	Restrictive cardiomyopathy, Ureteral obstruction, Renal insufficiency, Follicular hyperplasia, He...	ORPHA:160
Immunodeficiency 54	Reduced natural killer cell count, Adrenal insufficiency, Splenomegaly, Adrenocorticotropic hormo...	OMIM:609981
Fanconi Anemia, Complementation Group I	Bone marrow hypocellularity, Renal hypoplasia, Decreased response to growth hormone stimulation t...	OMIM:609053
Griscelli Syndrome Type 2	Hemophagocytosis, Pancytopenia, Hyperlipidemia, Splenomegaly, Lymphadenopathy, Neutropenia, Hepat...	ORPHA:79477
Cinca Syndrome	Hepatosplenomegaly, Leukocytosis, Eosinophilia, Elevated circulating C-reactive protein concentra...	OMIM:607115
Holoprosencephaly	Tetralogy of Fallot, Panhypopituitarism, Abnormality of the spleen, Abnormal pulmonary valve morp...	ORPHA:2162
Lipodystrophy, Congenital Generalized, Type 3	Hepatosplenomegaly, Splenomegaly, Hypocalcemia, Hepatic steatosis, Primary amenorrhea, Hyperchole...	OMIM:612526
Microphthalmia With Limb Anomalies	Unilateral cryptorchidism, Anophthalmia, Microphthalmia	OMIM:206920
Gray Platelet Syndrome	Abnormality of the menstrual cycle, Splenomegaly, Thrombocytopenia	ORPHA:721
Immune Dysregulation, Autoimmunity, And Autoinflammation	Anemia, Inguinal lymphadenopathy, Cervical lymphadenopathy, Abnormal circulating C-reactive prote...	OMIM:620514
Microphthalmia, Syndromic 3	Optic nerve aplasia, Cryptorchidism, Anophthalmia, Ventricular septal defect, Hypogonadotropic hy...	OMIM:206900
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Increased total ...	OMIM:267700
Bile Acid Synthesis Defect, Congenital, 5	Hepatic fibrosis, Portal fibrosis, Increased total iron binding capacity, Hyperbilirubinemia, Por...	OMIM:616278
Hurler-Scheie Syndrome	Cardiomyopathy, Abnormal heart valve morphology, Splenomegaly, Abnormality of the tonsils, Hepato...	ORPHA:93476
Purine Nucleoside Phosphorylase Deficiency	Hypouricemia, Decreased urinary urate, Elevated urinary inosine level, Lymphopenia, Lymph node hy...	OMIM:613179
Mucopolysaccharidosis, Type Iiib	Heparan sulfate excretion in urine, Splenomegaly, Cardiomegaly, Aggressive behavior, Hyperactivit...	OMIM:252920
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Mediasti...	OMIM:619802
Cold Agglutinin Disease	Abnormal urinary color, Splenomegaly, Lymphadenopathy, Hepatomegaly, Hemolytic anemia	ORPHA:56425
Immunodeficiency, Common Variable, 2	Abnormal T cell count, Splenomegaly, Follicular hyperplasia, Lymphadenopathy, Hepatomegaly	OMIM:240500
Acetophenetidin Sensitivity	Methemoglobinemia, Hemolytic anemia	OMIM:200300
Indolent Systemic Mastocytosis	Mastocytosis, Increased proportion of CD25+ mast cells, Splenomegaly, Lymphadenopathy, Hepatomega...	ORPHA:98848
Pfapa Syndrome	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:42642
Fanconi Anemia, Complementation Group E	Abnormal heart morphology, Horseshoe kidney, Pancytopenia, Microphthalmia, Cryptorchidism, Anemia...	OMIM:600901
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Lymphadenopathy	OMIM:617772
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Self-injurious behavior, Renal hypoplasia, Patent foramen ovale, Aggressive behavior, Pulmonic st...	OMIM:618914
Systemic-Onset Juvenile Idiopathic Arthritis	Splenomegaly, Hepatomegaly, Lymphadenopathy, Elevated circulating C-reactive protein concentratio...	ORPHA:85414
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Testicular atrophy, Decreased fertility, Dysphagia, Elevated circulating creatine kinase concentr...	OMIM:313200
Classic Hodgkin Lymphoma	Bone marrow hypocellularity, Splenomegaly, Lymphadenopathy, Anorexia, Hepatomegaly	ORPHA:391
Adult-Onset Still Disease	Bone marrow hypocellularity, Hepatitis, Abnormal circulating lipid concentration, Increased circu...	ORPHA:829
Hypogonadism, Male	Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy	OMIM:241100
Macrophage Activation Syndrome	Hypoalbuminemia, Hemophagocytosis, Hepatitis, Increased circulating ferritin concentration, Splen...	ORPHA:158061
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Decreased CD4:CD8 ratio, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly	OMIM:618495
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Hepatomegaly, Fetal ascites, Splenomegaly	OMIM:619462
Sea-Blue Histiocyte Disease	Cirrhosis, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis	OMIM:269600
Fanconi Anemia, Complementation Group A	Male infertility, Abnormal heart morphology, Horseshoe kidney, Pancytopenia, Microphthalmia, Cryp...	OMIM:227650
Lymphoproliferative Syndrome, X-Linked, 2	Aplastic anemia, Hemophagocytosis, Hepatitis, Increased circulating ferritin concentration, Pancy...	OMIM:300635
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Microcytic anemia, Hepatosplenomegaly, Hypothyroidism, Lymphadenopathy, Elevated circulating amyl...	OMIM:619750
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Abnormally large globe, Abnormality of the uterus, Pancreatic lymphangiectasis, Ascites, Hepatosp...	ORPHA:1655
Sickle Cell Anemia	Splenic infarction, Cholelithiasis, Hypochromic anemia, Pigment gallstones, Increased mean corpus...	ORPHA:232
Inverted Duplicated Chromosome 15 Syndrome	Precocious puberty, Unilateral renal agenesis, Gonadal dysgenesis, Hypogonadism, Tetralogy of Fal...	ORPHA:3306
Pierpont Syndrome	Micropenis, Cryptorchidism, Microphthalmia	OMIM:602342
Classic Mycosis Fungoides	Hepatomegaly, Abnormal lymphocyte morphology, Splenomegaly, Lymphadenopathy	ORPHA:2584
Immunodeficiency 91 And Hyperinflammation	Neutrophilia, Hemophagocytosis, Hepatosplenomegaly, Renal insufficiency, Hepatomegaly, Lymphadeno...	OMIM:619644
Aggressive Systemic Mastocytosis	Ascites, Hypersplenism, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Increased proportion of C...	ORPHA:98850
Warburg Micro Syndrome 1	External genital hypoplasia, Cryptorchidism, Microphthalmia	OMIM:600118
Lymphoproliferative Syndrome 2	Aplastic anemia, Hemophagocytosis, Ascites, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Lymph...	OMIM:615122
Roifman Syndrome	Hepatosplenomegaly, Noncompaction cardiomyopathy, Hypogonadotropic hypogonadism, Eosinophilia, Ly...	ORPHA:353298
Fanconi Anemia, Complementation Group J	Bone marrow hypocellularity, Microphthalmia	OMIM:609054
Sickle Cell Disease	Splenic infarction, Cholelithiasis, Priapism, Increased red cell sickling tendency, Leukocytosis,...	OMIM:603903
Delta-Beta-Thalassemia	Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231237
Joubert Syndrome 37	Decreased testicular size, Cryptorchidism, Hydronephrosis, Hepatomegaly, Microphthalmia, Micropenis	OMIM:619185
Legionnaires Disease	Bone marrow hypocellularity, Hepatitis, Lymphopenia, Renal insufficiency, Splenomegaly, Hyponatre...	ORPHA:549
Pierpont Syndrome	Cryptorchidism, Microphthalmia	ORPHA:487825
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of...	OMIM:300946
X-Linked Sideroblastic Anemia	Anemia, Abnormality of iron homeostasis, Splenomegaly	ORPHA:75563
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hepatic bridging fibrosis, Hepatic fibrosis, Elevated circulating gamma-aminobutyric acid concent...	OMIM:619658
Immunodeficiency 7	Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia, Hepat...	OMIM:615387
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune thrombocytopenia, Absence of lymph node germinal center, Autoimmune hemolytic anemia	OMIM:608184
Rhabdoid Tumor	Hematuria, Neoplasm of the liver, Lymphadenopathy, Thrombocytopenia, Anemia, Hypercalcemia	ORPHA:69077
Gamma-Heavy Chain Disease	Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, Hepatomegaly, Lymphade...	ORPHA:100026
Omenn Syndrome	Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Hepatomegaly, Lymphadenopathy, Thro...	OMIM:603554
Charge Syndrome	Lymphopenia, Unilateral microphthalmos, Cryptorchidism, Anophthalmia, Ventricular septal defect, ...	OMIM:214800
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abnormal CD4:CD8 ratio, Splenomegaly, Lymphadenopathy, Neutropenia, B lymphocytopenia, Intermitte...	OMIM:150550
Fish-Eye Disease	Hepatomegaly, Lymphadenopathy, Splenomegaly, Decreased HDL cholesterol concentration	ORPHA:79292
Solitary Median Maxillary Central Incisor	Decreased response to growth hormone stimulation test, Anterior hypopituitarism, Anophthalmia, Mi...	OMIM:147250
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Hepatitis, Increased circula...	OMIM:194380
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Leukemia, Ventricular septal defect, Microphthalmia	OMIM:602501
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome	Hypogonadism, Cryptorchidism, Microphthalmia	OMIM:601794
Immunodeficiency, Common Variable, 1	Abnormal T cell count, Splenomegaly, Decreased proportion of class-switched memory B cells, Lymph...	OMIM:607594
Mosaic Trisomy 9	Hypoplastic female external genitalia, Abnormality of the uterus, Abnormal heart valve morphology...	ORPHA:99776
Anemia, Congenital Dyserythropoietic, Type Ia	Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Hyperbilirubinemia, Reticulocytosis, ...	OMIM:224120
Caspase 8 Deficiency	Decreased CD4:CD8 ratio, Splenomegaly, Lymphadenopathy	OMIM:607271
Oculogastrointestinal Neurodevelopmental Syndrome	Vaginal fistula, Bilateral microphthalmos, Horseshoe kidney, Unilateral microphthalmos, Bicuspid ...	OMIM:619318
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Bilateral microphthalmos, Abnormal heart morphology, Cryptorchidism, Overfriendliness, Ventricula...	ORPHA:369891
Pleural Mesothelioma	Hepatomegaly, Dysphagia, Lymphadenopathy	ORPHA:50251
Cholestasis-Lymphedema Syndrome	Hyperlipidemia, Splenomegaly, Neonatal cholestatic liver disease, Cirrhosis, Hepatomegaly, Jaundi...	OMIM:214900
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Ambiguous genitalia, Ventricular septal defect, Microphthalmia	ORPHA:93267
Immunodeficiency With Hyper-Igm, Type 3	Absence of lymph node germinal center, Neutropenia	OMIM:606843
Microphthalmia/Coloboma 7	Microphthalmia	OMIM:614497
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Renal hypoplasia, Ketonuria, Hypertrophic cardiomyopathy, Microphthalmia, Hepatomegaly	OMIM:619053
Hyperlysinemia, Type I	Hypoornithinemia, Hyperlysinuria, Hyperlysinemia, Cystinuria, Hyperactivity, Anemia, Ornithinuria...	OMIM:238700
Bresek Syndrome	Renal hypoplasia, Decreased testicular size, Vesicoureteral reflux, Cryptorchidism, Microphthalmi...	ORPHA:85284
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Hypogonadism, External genital hypoplasia, Cryptorchidism, Anophthalmia, Microphthalmia, Hypoplas...	ORPHA:2250
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly...	OMIM:300908
Foveal Hypoplasia 2	Hypoplasia of the fovea, Microphthalmia	OMIM:609218
Roifman Syndrome	Splenomegaly, Ventricular septal defect, Noncompaction cardiomyopathy, Eosinophilia, Lymphadenopa...	OMIM:616651
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Hypopl...	ORPHA:2585
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Subaortic Stenosis-Short Stature Syndrome	Abnormal circulating lipid concentration, Type II diabetes mellitus, Biliary tract abnormality, S...	ORPHA:3191
Linear Skin Defects With Multiple Congenital Anomalies 2	Tetralogy of Fallot, Ventricular hypertrophy, Atrial septal defect, Microphthalmia	OMIM:300887
Fanconi Anemia, Complementation Group C	Bone marrow hypocellularity, Horseshoe kidney, Pancytopenia, Microphthalmia, Cryptorchidism, Vent...	OMIM:227645
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatic fibrosis, Dilated cardiomyopathy, Lymphadenitis, Cardiomyopathy, Cholestasis, Leukocytosi...	OMIM:615895
Erythrocytosis, Familial, 8	Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,...	OMIM:222800
Thrombocytopenia With Beta-Thalassemia, X-Linked	Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,...	OMIM:314050
Activated Pi3K-Delta Syndrome	Recurrent tonsillitis, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Hepatomegaly	ORPHA:397596
Microphthalmia, Syndromic 8	Cryptorchidism, Microphthalmia	OMIM:601349
Developmental And Epileptic Encephalopathy 1	Micropenis, Dysphagia, Microphthalmia	OMIM:308350
Anophthalmia Plus Syndrome	Anophthalmia	ORPHA:1104
Fragile X Syndrome	Recurrent hand flapping, Mitral valve prolapse, Macroorchidism, postpubertal, Hyperactivity, Self...	OMIM:300624
Alpha-1-Antitrypsin Deficiency	Cirrhosis, Reduced circulating alpha-1-antitrypsin concentration, Splenomegaly, Hepatocellular ca...	OMIM:613490
Griscelli Syndrome	Bone marrow hypocellularity, Hepatitis, Abnormal circulating lipid concentration, Ascites, Leukop...	ORPHA:381
Cholesteryl Ester Storage Disease	Adrenal calcification, Splenomegaly, Cirrhosis, Hypercholesterolemia, Hypertriglyceridemia, Hepat...	ORPHA:75234
Microphthalmia/Coloboma 3	Microphthalmia	OMIM:610092
Fanconi Anemia, Complementation Group D2	Bone marrow hypocellularity, Annular pancreas, Leukemia, Abnormal heart morphology, Horseshoe kid...	OMIM:227646
Tularemia	Cervical lymphadenopathy, Abnormal nasopharyngeal adenoid morphology, Leukocytosis, Lymphadenopat...	ORPHA:3392
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Increased total ...	OMIM:603553
Thymic Neuroendocrine Tumor	Calcium nephrolithiasis, Mediastinal lymphadenopathy, Pituitary adenoma, Increased circulating co...	ORPHA:97289
Immunodeficiency 42	Hepatomegaly, Hypoplasia of the thymus, Splenomegaly	OMIM:616622
Mcleod Syndrome	Dilated cardiomyopathy, Cardiomyopathy, Acanthocytosis, Splenomegaly, Reduced haptoglobin level, ...	OMIM:300842
Omenn Syndrome	Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Hepatomegaly, Eosinophilia, Hypothyro...	ORPHA:39041
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Focal segmental glomerulosclerosis, Bone marrow hypocellularity, Decreased pineal volume, Microph...	OMIM:301108
Amyloidosis, Hereditary Systemic 2	Nephropathy, Cholestasis, Splenomegaly, Proteinuria, Hematuria, Hepatomegaly, Nephrotic syndrome	OMIM:105200
Cholestasis-Lymphedema Syndrome	Hyperlipidemia, Splenomegaly, Portal hypertension, Biliary tract abnormality, Abnormality of the ...	ORPHA:1414
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Microphthalmia	OMIM:616171
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Hematuria, Microphthalmia	OMIM:120433
Immunodeficiency 98 With Autoinflammation, X-Linked	Bone marrow hypocellularity, Type I diabetes mellitus, Hemophagocytosis, Agranulocytosis, Autoimm...	OMIM:301078
Xeroderma Pigmentosum, Complementation Group G	Microphthalmia	OMIM:278780
Hepatoportal Sclerosis	Hypoalbuminemia, Nodular regenerative hyperplasia of liver, Periportal fibrosis, Abnormality of t...	ORPHA:64743
Deafness-Lymphedema-Leukemia Syndrome	Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombo...	ORPHA:3226
Methemoglobinemia And Ambiguous Genitalia	Elevated circulating luteinizing hormone level, Bifid scrotum, Decreased circulating dehydroepian...	OMIM:250790
Microphthalmia, Isolated 6	Microphthalmia	OMIM:613517
Immunodeficiency 10	Hypoplasia of the iris, Splenomegaly, Autoimmune hemolytic anemia, Abnormal lymphocyte count, Lym...	OMIM:612783
Combined Immunodeficiency Due To Zap70 Deficiency	Lymphadenitis, Abnormal lymph node morphology, Decreased proportion of CD8-positive T cells, Hepa...	ORPHA:911
Autoinflammation With Infantile Enterocolitis	Hypoalbuminemia, Reduced natural killer cell count, Increased circulating ferritin concentration,...	OMIM:616050
2Q24 Microdeletion Syndrome	Microphthalmia	ORPHA:1617
Spherocytosis, Type 1	Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemol...	OMIM:182900
Immunodeficiency 84	Splenomegaly, B lymphocytopenia	OMIM:619437
Microcephaly 20, Primary, Autosomal Recessive	Renal hypoplasia, Ureteral agenesis, Attention deficit hyperactivity disorder, Microphthalmia, Va...	OMIM:617914
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Abnormally low T cell receptor excision circle level, Cervical lymphadenopathy, B lymphocytopenia	OMIM:618987
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Absence of lymph node germinal center, Lymphopenia, B lymphocytopenia, Absent tonsils, T lymphocy...	ORPHA:277
Nephronophthisis 19	Malformation of the hepatic ductal plate, Hepatic fibrosis, Nephronophthisis, Cholestasis, Stage ...	OMIM:616217
Cholesteryl Ester Storage Disease	Hepatic bridging fibrosis, Adrenal calcification, Hepatosplenomegaly, Hypersplenism, Increased LD...	OMIM:278000
Microphthalmia With Linear Skin Defects Syndrome	Abnormal penis morphology, Clitoral hypertrophy, Dilated cardiomyopathy, Hypertrophic cardiomyopa...	ORPHA:2556
Overhydrated Hereditary Stomatocytosis	Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis...	ORPHA:3203
Thyroid Lymphoma	Goiter, Hashimoto thyroiditis, Hypothyroidism, Hyperthyroidism, Lymphadenopathy, Dysphagia	ORPHA:97285
Joubert Syndrome 21	Renal cyst, Dysphagia, Splenomegaly, Anophthalmia	OMIM:615636
Fraser Syndrome 1	Clitoral hypertrophy, Renal hypoplasia, Bilateral microphthalmos, Abnormal heart morphology, Cryp...	OMIM:219000
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Acute pancreatitis, Recurrent tonsillitis, Lymphadenitis, Lymphopenia, Hepatosplenomegaly, Impair...	OMIM:618935
Adams-Oliver Syndrome 6	Hepatic fibrosis, Renal hypoplasia, Portal hypertension, Splenomegaly, Truncus arteriosus, Ventri...	OMIM:616589
Hereditary Spherocytosis	Spontaneous hemolytic crises, Cholelithiasis, Restrictive cardiomyopathy, Increased mean corpuscu...	ORPHA:822
Diamond-Blackfan Anemia 6	Ventricular hypertrophy, Increased mean corpuscular volume, Persistence of hemoglobin F, Tetralog...	OMIM:612561
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Elevated circulating creatine kinase concentration, Left ventricular hypertrophy, Microphthalmia	OMIM:613153
Transaldolase Deficiency	Hepatic fibrosis, Clitoral hypertrophy, Micronodular cirrhosis, Hepatosplenomegaly, Pancytopenia,...	OMIM:606003
Neuraminidase Deficiency	Cardiomyopathy, Urinary excretion of sialylated oligosaccharides, Ascites, Increased urinary O-li...	OMIM:256550
Gaucher Disease Type 1	Hepatosplenomegaly, Pancytopenia, Hypersplenism, Hematuria, Cirrhosis, Anorexia, Hepatomegaly, El...	ORPHA:77259
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Type I diabetes mellitus, Hepatitis, Decreased FOXP3-expressing T cell count, Eosinophilia, Hypot...	OMIM:304790
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Abnormal heart morphology, Cryptorchidism, Ventricular septal defect, Attention deficit hyperacti...	ORPHA:404440
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Tricuspid valve prolapse, Aniridia, Cryptorchidism, Anophthalmia	ORPHA:1101
Refsum Disease	Renal insufficiency, Splenomegaly, Cardiomyopathy, Microphthalmia	ORPHA:773
14Q22Q23 Microdeletion Syndrome	Small scrotum, Renal hypoplasia, Optic nerve aplasia, Cryptorchidism, Anophthalmia, Adrenal hypop...	ORPHA:264200
Kennedy Disease	Abnormal circulating lipid concentration, Type II diabetes mellitus, Decreased fertility, Testicu...	ORPHA:481
Spherocytosis, Type 5	Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ...	OMIM:612690
Immunodeficiency With Hyper-Igm, Type 2	Lymphadenopathy	OMIM:605258
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Hypogonadotropic hypogonadism, Microphthalmia	ORPHA:1135
Glycogen Storage Disease Xii	Normocytic anemia, Cholelithiasis, Hyperbilirubinemia, Splenomegaly, Reduced haptoglobin level, E...	OMIM:611881
Acute Monoblastic/Monocytic Leukemia	Hypochromic anemia, Central hypothyroidism, Acute monocytic leukemia, Oliguria, Cervical lymphade...	ORPHA:514
Lig4 Syndrome	Acute leukemia, Pancytopenia, Type II diabetes mellitus, Cryptorchidism, Leukocytosis, Hypothyroi...	ORPHA:99812
Niemann-Pick Disease, Type A	Sea-blue histiocytosis, Microcytic anemia, Ascites, Splenomegaly, Hepatomegaly, Lymphadenopathy, ...	OMIM:257200
Charge Syndrome	Bifid scrotum, Abnormal morphology of female internal genitalia, Tetralogy of Fallot, Horseshoe k...	ORPHA:138
Immunodeficiency 32B	Hypoalbuminemia, Impaired oxidative burst, Splenomegaly, Hepatomegaly, Eosinophilia, Monocytopeni...	OMIM:226990
Cinca Syndrome	Leukocytosis, Splenomegaly, Hepatomegaly, Elevated circulating C-reactive protein concentration, ...	ORPHA:1451
17Q12 Microduplication Syndrome	Self-injurious behavior, Atrial septal defect, Microphthalmia	ORPHA:261272
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Hypogonadotropic hypogonadism, Microphthalmia	ORPHA:48431
Idiopathic Uveal Effusion Syndrome	Microphthalmia	ORPHA:209956
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Cholestasis, Hepatic steatosis, Dysmenorrhea, Polycystic ovaries, Myoglobinuria, Cirrhosis, Hepat...	ORPHA:264580
Spherocytosis, Type 2	Hyperbilirubinemia, Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemol...	OMIM:616649
Familial Hemophagocytic Lymphohistiocytosis	Hypoalbuminemia, Cholestatic liver disease, Hemophagocytosis, Increased circulating ferritin conc...	ORPHA:540
Chromosome 15Q25 Deletion Syndrome	Polysplenia, Coronary artery fistula, Cryptorchidism, Macrocytic anemia, Ventricular septal defec...	OMIM:614294
Histiocytosis-Lymphadenopathy Plus Syndrome	Type I diabetes mellitus, Pancreatic hypoplasia, Decreased response to growth hormone stimulation...	OMIM:602782
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Hypoplasia of penis, Hydroureter, Microphthalmia	ORPHA:2547
Cat-Eye Syndrome	Hydronephrosis, Microphthalmia	ORPHA:195
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hypoplasia of the iris, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Hepatomegaly, Hemolytic ...	ORPHA:169090
Pparg-Related Familial Partial Lipodystrophy	Insulin-resistant diabetes mellitus, Hypertrophic cardiomyopathy, Splenomegaly, Hypertriglyceride...	ORPHA:79083
Osteopetrosis, Autosomal Dominant 3	Anemia, Hyperparathyroidism, Splenomegaly, Hepatomegaly	OMIM:618107
Nephroblastoma	Hematuria, Aniridia, Lymphadenopathy, Neoplasm of the liver	ORPHA:654
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Precocious puberty, Hypospadias, Anophthalmia, Microphthalmia	OMIM:615877
Poems Syndrome	Visceromegaly, Polycythemia, Increased circulating prolactin concentration, Hypogonadism, Ascites...	ORPHA:2905
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:610293
Felty Syndrome	Bone marrow hypocellularity, Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly, Lymphade...	ORPHA:47612
Fanconi Anemia, Complementation Group R	Anemia, Bone marrow hypocellularity, Pelvic kidney, Microphthalmia	OMIM:617244
Spherocytosis, Type 4	Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:612653
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Abnormally low T cell receptor excision circle level, Reduced natural killer cell count, Lymphope...	ORPHA:276
Facial Clefting, Oblique, 1	Microphthalmia	OMIM:600251
Medullary Thyroid Carcinoma	Elevated circulating calcitonin concentration, Pheochromocytoma, Medullary thyroid carcinoma, Abn...	ORPHA:1332
Cryohydrocytosis	Pseudohyperkalemia, Stomatocytosis, Splenomegaly, Reticulocytosis, Hemolytic anemia	OMIM:185020
Acute Promyelocytic Leukemia	Pancytopenia, Leukopenia, Leukocytosis, Metrorrhagia, Hematuria, Addictive alcohol use, Lymphaden...	ORPHA:520
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Small scrotum, Unilateral renal agenesis, Decreased serum testosterone concentration, Decreased t...	OMIM:308700
Cataract 9, Multiple Types	Microphthalmia	OMIM:604219
Manitoba Oculotrichoanal Syndrome	Vaginal atresia, Anophthalmia, Microphthalmia	OMIM:248450
Hypocomplementemic Urticarial Vasculitis	Abnormal heart valve morphology, Ascites, Renal insufficiency, Splenomegaly, Hematuria, Proteinur...	ORPHA:36412
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia	OMIM:614830
Bone Marrow Failure Syndrome 6	Bone marrow hypocellularity, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymp...	OMIM:618849
Polycythemia Vera	Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul...	OMIM:263300
Lissencephaly 8	Elevated circulating creatine kinase concentration, Microphthalmia	OMIM:617255
Fibular Hemimelia	Abnormal heart morphology, Anophthalmia, Thrombocytopenia	ORPHA:93323
American Trypanosomiasis	Cardiomyopathy, Splenomegaly, Hepatomegaly, Lymphadenopathy, Myocarditis	ORPHA:3386
Lymphatic Filariasis	Urethral obstruction, Lymphadenitis, Hypereosinophilia, Abnormal scrotum morphology, Orchitis, Ab...	ORPHA:2035
Neonatal Lupus Erythematosus	Dilated cardiomyopathy, Aplastic anemia, Abnormal heart morphology, Pancytopenia, Abnormality of ...	ORPHA:398124
Congenital Varicella Syndrome	Microphthalmia	ORPHA:291
Mevalonic Aciduria	Fluctuating splenomegaly, Hepatosplenomegaly, Leukocytosis, Elevated circulating creatine kinase ...	OMIM:610377
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia	OMIM:615771
Sea-Blue Histiocytosis	Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia, Hepatomegaly, Mediastinal lymphadenopathy	ORPHA:158029
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Elevated circulating creatine kinase concentration, Optic nerve hypoplasia, Microphthalmia	OMIM:615181
Dyskeratosis Congenita, Autosomal Recessive 2	Bone marrow hypocellularity, Pancytopenia, Cirrhosis, Thrombocytopenia, Testicular atrophy	OMIM:613987
Q Fever	Hepatitis, Abnormal heart valve morphology, Hepatosplenomegaly, Abnormality of the liver, Splenom...	ORPHA:781
Microphthalmia, Isolated 5	Microphthalmia	OMIM:611040
Renal-Hepatic-Pancreatic Dysplasia 1	Aortic valve stenosis, Cholestasis, Cirrhosis, Atrial septal defect, Hepatomegaly, Polycystic kid...	OMIM:208540
Proteasome-Associated Autoinflammatory Syndrome 2	Decreased proportion of memory B cells, Lymphadenopathy, Thrombocytopenia, B lymphocytopenia, Ele...	OMIM:618048
Vacterl With Hydrocephalus	Abnormal fallopian tube morphology, Cryptorchidism, Anophthalmia, Microphthalmia	ORPHA:3412
Glycogen Storage Disease Ixb	Hepatomegaly, Splenomegaly, Hyperuricemia, Increased hepatic glycogen content	OMIM:261750
Tangier Disease	Splenomegaly, Hypertriglyceridemia, Elevated circulating apolipoprotein A-II concentration, Left ...	OMIM:205400
Cholestasis, Progressive Familial Intrahepatic, 3	Intrahepatic cholestasis, Portal fibrosis, Portal inflammation, Ascites, Splenomegaly, Increased ...	OMIM:602347
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Hepatic fibrosis, Severe B lymphocytopenia, Renal hypoplasia, Exocrine pancreat...	OMIM:620005
Scrub Typhus	Myocarditis, Renal insufficiency, Splenomegaly, Lymphadenopathy	ORPHA:83317
Lead Poisoning	Chronic kidney disease, Decreased male libido, Imbalanced hemoglobin synthesis, Decreased HDL cho...	ORPHA:330015
Congenital Pulmonary Lymphangiectasia	Ascites, Splenomegaly, Hepatomegaly, Chylopericardium, Pulmonic stenosis	ORPHA:2414
Microphthalmia, Syndromic 13	Microphthalmia	OMIM:300915
Spermatogenic Failure, X-Linked, 2	Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility	OMIM:309120
Wilson Disease	Hepatitis, Abnormality of the menstrual cycle, Acute hepatitis, Splenomegaly, Hepatic steatosis, ...	ORPHA:905
Meacham Syndrome	Aortic valve stenosis, Hypoplastic left heart, Abnormal vagina morphology, Hydrometrocolpos, Tetr...	ORPHA:3097
Kaposiform Lymphangiomatosis	Hepatosplenomegaly, Metrorrhagia, Splenomegaly, Lymphangioma, Abnormality of the lymphatic system...	ORPHA:464329
Glycogen Storage Disease Ixa1	Splenomegaly, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Hepatomegaly	OMIM:306000
Baraitser-Winter Syndrome 1	Aortic valve stenosis, Cryptorchidism, Bicuspid aortic valve, Microphthalmia, Micropenis	OMIM:243310
Pseudomyxoma Peritonei	Ascites, Lymphadenopathy, Abnormal peritoneum morphology	ORPHA:26790
Encephalocraniocutaneous Lipomatosis	Hypoplasia of the iris, Cryptorchidism, Ventricular septal defect, Hydronephrosis, Subvalvular ao...	OMIM:613001
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Small scrotum, Multiple bladder diverticula, Cryptorchidism, Proteinuria, Atrial septal defect, M...	ORPHA:2728
Bone Marrow Failure Syndrome 5	Hypogonadism, Erythroid hypoplasia, Anemia, Testicular atrophy, Pure red cell aplasia	OMIM:618165
Immunodeficiency 32A	Lymphadenitis, Lymphadenopathy	OMIM:614893
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Microphthalmia	OMIM:610023
Moebius Syndrome	Decreased testicular size, Hypogonadotropic hypogonadism, Microphthalmia, Micropenis, Dysphagia	OMIM:157900
Microphthalmia, Syndromic 2	Aortic valve stenosis, Septate vagina, Adrenal insufficiency, Cryptorchidism, Anophthalmia, Ventr...	OMIM:300166
Mucopolysaccharidosis, Type Iiia	Heparan sulfate excretion in urine, Splenomegaly, Hyperactivity, Hepatomegaly, Asymmetric septal ...	OMIM:252900
Pseudotrisomy 13 Syndrome	Renal hypoplasia, Cryptorchidism, Complete atrioventricular canal defect, Ventricular septal defe...	OMIM:264480
Agammaglobulinemia, X-Linked	Cor pulmonale, Lymph node hypoplasia, Prostatitis, Neutropenia, B lymphocytopenia, Anemia, Entero...	OMIM:300755
Fanconi Anemia, Complementation Group S	Anemia, Ovarian neoplasm, Ovarian carcinoma, Microphthalmia	OMIM:617883
8P11.2 Deletion Syndrome	Hypogonadism, Azoospermia, Cryptorchidism, Splenomegaly, Mitral valve prolapse, Hypogonadotropic ...	ORPHA:251066
Overhydrated Hereditary Stomatocytosis	Stomatocytosis, Increased mean corpuscular volume, Hyperbilirubinemia, Splenomegaly, Reticulocyto...	OMIM:185000
Hereditary Elliptocytosis	Cholelithiasis, Stomatocytosis, Neonatal hyperbilirubinemia, Abnormal erythrocyte morphology, Con...	ORPHA:288
Joubert Syndrome 22	Renal hypoplasia, Microphthalmia	OMIM:615665
Ornithine Transcarbamylase Deficiency	Aminoaciduria, Hyperammonemia, Splenomegaly	ORPHA:664
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia	OMIM:267760
H Syndrome	Histiocytosis, Hypogonadism, Decreased testicular size, Azoospermia, Microcytic anemia, Hepatospl...	ORPHA:168569
Kikuchi-Fujimoto Disease	Abnormal lymph node morphology, Cervical lymphadenopathy, Leukopenia, Enlargement of parotid glan...	ORPHA:50918
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Splenomegaly, Cholecystitis, No...	OMIM:613470
Craniotelencephalic Dysplasia	Septo-optic dysplasia, Microphthalmia	ORPHA:1528
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Pancreatic lymphangiectasis, Ascites, Splenomegaly, Cryptorchidism, Hypocalcemia, Thyroid lymphan...	OMIM:235255
Meckel Syndrome, Type 4	Ventricular septal defect, Renal cyst, Atrial septal defect, Microphthalmia, Bile duct proliferation	OMIM:611134
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Splenomegaly, Hyper...	OMIM:618398
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:617068
Chediak-Higashi Syndrome	Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Macular hypoplasia, Hepato...	OMIM:214500
Anaplastic Thyroid Carcinoma	Goiter, Lymphadenopathy, Dysphagia, Nodular goiter, Anaplastic thyroid carcinoma	ORPHA:142
Braddock-Carey Syndrome 2	Thrombocytopenia, Microphthalmia	OMIM:619981
Kallmann Syndrome With Spastic Paraplegia	Unilateral renal agenesis, Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism...	OMIM:308750
Marden-Walker Syndrome	Renal hypoplasia, Cryptorchidism, Dextrocardia, Microphthalmia, Micropenis, Hypospadias	OMIM:248700
Sitosterolemia 1	Stomatocytosis, Giant platelets, Hyperapobetalipoproteinemia, Reticulocytosis, Splenomegaly, Redu...	OMIM:210250
Seckel Syndrome 2	Hypospadias, Ectopic kidney, Microphthalmia	OMIM:606744
Thrombocythemia 1	Splenomegaly, Thrombocytosis	OMIM:187950
Wolman Disease	Adrenal calcification, Ascites, Adrenal insufficiency, Splenomegaly, Hepatomegaly, Anemia, Bone-m...	ORPHA:75233
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Hyperphosphatemia, Decreased response to growth hormone stimulation test, Cryptorchidism, Hypocal...	OMIM:241410
Boutonneuse Fever	Cervical lymphadenopathy, Leukopenia, Renal insufficiency, Lymphadenopathy, Thrombocytopenia	ORPHA:83313
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, Decreased proporti...	ORPHA:169154
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Hematuria, Microphthalmia	ORPHA:1473
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Decreased proportion of memory B cells, Absence of lymph node germinal center, Urinary retention,...	ORPHA:79124
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Type I diabetes mellitus, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Neutropenia...	ORPHA:436159
Myotonic Dystrophy 1	Cholelithiasis, Hypogonadism, Obsessive-compulsive trait, Testicular atrophy, Dysphagia	OMIM:160900
47,Xyy Syndrome	Varicocele, Azoospermia, Cryptorchidism, Impulsivity, Attention deficit hyperactivity disorder, M...	ORPHA:8
Familial Partial Lipodystrophy, Dunnigan Type	Hypertrophic cardiomyopathy, Splenomegaly, Hepatic steatosis, Dysmenorrhea, Polycystic ovaries, P...	ORPHA:2348
Congenital Disorder Of Glycosylation, Type Iq	Microcytic anemia, Dysphagia, Microphthalmia	OMIM:612379
Warburg Micro Syndrome 4	Small scrotum, Decreased testicular size, Cryptorchidism, Microphthalmia, Micropenis	OMIM:615663
Trichothiodystrophy 3, Photosensitive	Bilateral cryptorchidism, Lymphopenia, Abdominal adhesions, Neutropenia, Microphthalmia	OMIM:616395
Craniotelencephalic Dysplasia	Optic nerve hypoplasia, Microphthalmia	OMIM:218670
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Decreased proportion of CD4+CD25+ regulatory T cells, Type I diabetes mellitus, Hepatosplenomegal...	OMIM:606367
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Cerebrooculofacioskeletal Syndrome 2	Micropenis, Small scrotum, Microphthalmia	OMIM:610756
Sézary Syndrome	Hepatomegaly, Abnormal lymphocyte morphology, Splenomegaly, Lymphadenopathy	ORPHA:3162
Erythrocytosis, Familial, 1	Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red...	OMIM:133100
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Microcytic anemia, HbH hemoglobin, Hypospadias, Cryptorchidism	ORPHA:98791
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Lymphopenia, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly, Autoimmune...	OMIM:616100
Oculotrichoanal Syndrome	Anophthalmia, Microphthalmia	ORPHA:2717
Mucopolysaccharidosis, Type Iiic	Heparan sulfate excretion in urine, Splenomegaly, Hyperactivity, Hepatomegaly, Asymmetric septal ...	OMIM:252930
Lesch-Nyhan Syndrome	Self-injurious behavior, Nephrocalcinosis, Hyperuricemia, Nephrolithiasis, Hyperuricosuria, Megal...	OMIM:300322
Kapur-Toriello Syndrome	Tetralogy of Fallot, Ventricular septal defect, Hypoplastic labia majora, Microphthalmia, Hypopla...	ORPHA:2328
Carcinoid Syndrome	Increased serum serotonin, Abnormal circulating B-type natriuretic peptide concentration, Hepatic...	ORPHA:100093
Acquired Hypertrichosis Lanuginosa	Ovarian neoplasm, Lymphadenopathy	ORPHA:2221
Hyperparathyroidism, Neonatal Severe	Aminoaciduria, Polydipsia, Elevated circulating parathyroid hormone level, Splenomegaly, Hyperpho...	OMIM:239200
Chromosome 13Q33-Q34 Deletion Syndrome	Penoscrotal transposition, Bifid scrotum, Cryptorchidism, Aggressive behavior, Left ventricular h...	OMIM:619148
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Hypogonadism, Small scrotum, Cryptorchidism, Microphthalmia	ORPHA:228390
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Bone marrow hypocellularity, Type I diabetes mellitus, Dilated cardiomyopathy, Lymphopenia, Pancy...	OMIM:615688
Proteasome-Associated Autoinflammatory Syndrome 4	Hepatomegaly, Lymphadenopathy, Splenomegaly, Autoimmune hemolytic anemia	OMIM:619183
Citrullinemia Type Ii	Hypoalbuminemia, Hepatic fibrosis, Enuresis, Decreased HDL cholesterol concentration, Delayed men...	ORPHA:247585
Portal Hypertension, Noncirrhotic, 2	Nodular regenerative hyperplasia of liver, Ascites, Portal hypertension, Splenomegaly, Thrombocyt...	OMIM:619463
Mixed Connective Tissue Disease	Nephropathy, Leukopenia, Hemolytic anemia, Splenomegaly, Hepatomegaly, Lymphadenopathy, Myocardit...	ORPHA:809
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Microphthalmia	ORPHA:324416
Whipple Disease	Mediastinal lymphadenopathy, Polydipsia, Splenomegaly, Hyponatremia, Myocarditis, Hepatomegaly, H...	ORPHA:3452
Familial Pancreatic Carcinoma	Peritoneal abscess, Pancreatic adenocarcinoma, Exocrine pancreatic insufficiency, Hepatosplenomeg...	ORPHA:1333
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis	OMIM:617441
Osteoporosis-Pseudoglioma Syndrome	Isosexual precocious puberty, Microphthalmia	ORPHA:2788
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Cholestatic liver disease, Polysplenia, Exocrine pancreatic insufficiency, Sple...	OMIM:619418
Cerebrooculofacioskeletal Syndrome 1	Cryptorchidism, Microphthalmia	OMIM:214150
Immunodeficiency, Common Variable, 8, With Autoimmunity	Type I diabetes mellitus, Pancytopenia, Autoimmune hemolytic anemia, Splenomegaly, Hypothyroidism...	OMIM:614700
Acute Interstitial Pneumonia	Elevated circulating creatinine concentration, Reduced hematocrit, Lymphadenopathy, Elevated circ...	ORPHA:79126
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatic fibrosis, Pancreatic hypoplasia, Elevated circulating thyroid-stimulating hormone concent...	OMIM:610199
Kapur-Toriello Syndrome	Cryptorchidism, Ventricular septal defect, Hypoplastic labia majora, Atrial septal defect, Microp...	OMIM:244300
Pediatric Systemic Lupus Erythematosus	Nephritis, Microangiopathic hemolytic anemia, Ascites, Lymphopenia, Leukopenia, Dark urine, Renal...	ORPHA:93552
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Aggressive behavior, Attention deficit hyperactivity disorder, Agitation, Microphthalmia	OMIM:152950
Bone Marrow Failure Syndrome 3	Bone marrow hypocellularity, Aplastic anemia, Increased mean corpuscular volume, Persistence of h...	OMIM:617052
Immunodeficiency With Hyper-Igm, Type 1	Absence of lymph node germinal center, Hepatitis, Chronic hepatitis, Splenomegaly, Sclerosing cho...	OMIM:308230
Osteopetrosis, Autosomal Recessive 4	Splenomegaly, Reticulocytosis, Hepatomegaly, Thrombocytopenia, Anemia	OMIM:611490
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Irregular menstruation, Hepatic fibrosis, Splenomegaly, Renal tubular acidosis, Dysmenorrhea, Pol...	ORPHA:79240
Spinocerebellar Ataxia 32	Testicular atrophy, Infertility, Azoospermia	OMIM:613909
Aregenerative Anemia	Bone marrow hypocellularity, Pancytopenia, Decreased proportion of CD4-positive helper T cells, A...	ORPHA:101096
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Lymphadenitis, Lymphopenia, Hepatosplenomeg...	OMIM:618986
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Microphthalmia	OMIM:251270
Frontonasal Dysplasia 1	Tetralogy of Fallot, Microphthalmia	OMIM:136760
Fanconi Anemia, Complementation Group L	Bone marrow hypocellularity, Unilateral renal agenesis, Renal hypoplasia, Aplasia of the uterus, ...	OMIM:614083
Spinocerebellar Ataxia Type 32	Testicular atrophy, Azoospermia, Male infertility	ORPHA:276183
Cyclic Neutropenia	Recurrent tonsillitis, Cervical lymphadenopathy, Lymphopenia, Cyclic neutropenia, Peritonitis, Ly...	ORPHA:2686
Pulmonary Non-Tuberculous Mycobacterial Infection	Pericardial effusion, Lymphadenopathy	ORPHA:411703
Developmental Delay With Variable Neurologic And Brain Abnormalities	Microphthalmia	OMIM:619694
Drug-Induced Autoimmune Hemolytic Anemia	Abnormal urinary color, Increased total bilirubin, Splenomegaly, Autoimmune hemolytic anemia	ORPHA:90037
Lipodystrophy, Congenital Generalized, Type 2	Clitoral hypertrophy, Hypertrophic cardiomyopathy, Hyperinsulinemia, Labial hypertrophy, Type II ...	OMIM:269700
Neuroendocrine Tumor Of The Colon	Increased serum serotonin, Abnormal pulmonary valve cusp morphology, Chronic noninfectious lympha...	ORPHA:100080
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Neutropenia, Tubulointerstitial nephritis, Nephrotic syndrome, Abnormal blood ion concentration, ...	ORPHA:37042
Sclerosing Cholangitis, Neonatal	Hepatic bridging fibrosis, Portal fibrosis, Biliary cirrhosis, Cholestasis, Ascites, Portal hyper...	OMIM:617394
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic...	ORPHA:98849
Microphthalmia-Brain Atrophy Syndrome	Tongue thrusting, Bilateral microphthalmos	ORPHA:77299
Short Fifth Metacarpals-Insulin Resistance Syndrome	Hyperinsulinemia, Spherocytosis, Splenomegaly	ORPHA:66518
Cholestasis, Progressive Familial Intrahepatic, 1	Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jaundice, Hepatom...	OMIM:211600
Ritscher-Schinzel Syndrome 3	Atrioventricular canal defect, Cryptorchidism, Microphthalmia	OMIM:619135
Myoclonic-Astatic Epilepsy	Attention deficit hyperactivity disorder, Hyperactivity, Microphthalmia	ORPHA:1942
Cholestasis, Progressive Familial Intrahepatic, 9	Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta...	OMIM:619849
Caroli Disease	Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Cholestasis, Ascit...	ORPHA:53035
Diffuse Cutaneous Mastocytosis	Abnormality of the spleen, Abnormality of the liver, Lymphocytosis, Lymphadenopathy, Hepatomegaly...	ORPHA:79456
Temtamy Syndrome	Microphthalmia	ORPHA:1777
Brucellosis	Liver abscess, Hypersplenism, Leukopenia, Leukocytosis, Splenomegaly, Thrombocytosis, Orchitis, A...	ORPHA:1304
Spondylo-Ocular Syndrome	Ventricular septal defect, Aplasia/Hypoplasia of the lens, Microphthalmia	ORPHA:85194
Proteasome-Associated Autoinflammatory Syndrome 3	Lymphopenia, Splenomegaly, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Hypertriglyceridemia,...	OMIM:617591
Fanconi Anemia, Complementation Group N	Unilateral renal agenesis, Aplastic anemia, Horseshoe kidney, Ventricular septal defect, Acute my...	OMIM:610832
Congenital Muscular Dystrophy With Cerebellar Involvement	Elevated circulating creatine kinase concentration, Optic nerve hypoplasia, Cardiomyopathy, Micro...	ORPHA:370959
Middle Ear Neuroendocrine Tumor	Neuroendocrine neoplasm, Carcinoid tumor, Chronic noninfectious lymphadenopathy	ORPHA:100084
Igg4-Related Kidney Disease	Chronic kidney disease, Lymphadenitis, Abnormal mesentery morphology, Urethritis, Hematuria, Pros...	ORPHA:449395
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Elevated urinary 3-hydroxyisobutyric acid level, Elevated urinary 3-hydroxybutyric acid, Methylma...	OMIM:614105
Fetal Cytomegalovirus Syndrome	Hepatitis, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Jaundice, Conjugated hyperbiliru...	ORPHA:294
Gaucher Disease, Type I	Aortic valve stenosis, Pancytopenia, Hypersplenism, Splenomegaly, Hepatomegaly, Thrombocytopenia,...	OMIM:230800
Immunodeficiency 27B	Generalized lymphadenopathy	OMIM:615978
Chronic Myeloid Leukemia	Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb...	ORPHA:521
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Secundum atrial septal defect, Lymphopenia, Hepatosplenomegaly, Leukopenia, Cryptorchidism, Splen...	OMIM:612541
Drug Reaction With Eosinophilia And Systemic Symptoms	Hepatitis, Renal insufficiency, Eosinophilia, Lymphocytosis, Lymphadenopathy, Myocarditis, Nephro...	ORPHA:139402
Multiple Benign Circumferential Skin Creases On Limbs	Small scrotum, Abnormal scrotum morphology, Cryptorchidism, Microphthalmia, Hypospadias	ORPHA:2505
Cholestasis, Progressive Familial Intrahepatic, 2	Intrahepatic cholestasis, Splenomegaly, Intermittent jaundice, Cirrhosis, Hepatomegaly, Conjugate...	OMIM:601847
3Q29 Microdeletion Syndrome	Horseshoe kidney, Aggressive behavior, Attention deficit hyperactivity disorder, Subvalvular aort...	ORPHA:65286
Papa Syndrome	Proteinuria, Type I diabetes mellitus, Lymphadenopathy	ORPHA:69126
Meckel Syndrome, Type 5	Renal cyst, Bile duct proliferation, Microphthalmia	OMIM:611561
3P25.3 Microdeletion Syndrome	Ventricular septal defect, Attention deficit hyperactivity disorder, Atrial septal defect, Microp...	ORPHA:435638
Carney Triad	Adrenal overactivity, Adrenocortical adenoma, Ascites, Pheochromocytoma, Lymphadenopathy, Anorexi...	ORPHA:139411
Adams-Oliver Syndrome	Tetralogy of Fallot, Ascites, Leukopenia, Abnormal pulmonary valve morphology, Portal hypertensio...	ORPHA:974
Bronchial Neuroendocrine Tumor	Increased serum serotonin, Abnormal pulmonary valve cusp morphology, Increased circulating cortis...	ORPHA:97287
Adams-Oliver Syndrome 5	Hypersplenism, Splenomegaly, Patent foramen ovale, Portal vein thrombosis, Right atrial enlargeme...	OMIM:616028
Microphthalmia, Syndromic 11	Agenesis of pineal gland, Microphthalmia	OMIM:614402
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Exocrine pancreatic insufficiency, Splenomegaly, Anemia of inadequate production, Hepatomegaly, J...	OMIM:612714
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Ventricular septal defect, Atrial septal defect, Increased size of nasopharyngeal adenoids, Persi...	OMIM:619769
Proboscis Lateralis	Unilateral renal agenesis, Duplication of renal pelvis, Ureteral agenesis, External genital hypop...	ORPHA:141099
Warburg Micro Syndrome 3	Small scrotum, Decreased testicular size, Microphthalmia, Micropenis, Hypoplastic labia minora	OMIM:614222
Glycogen Storage Disease Ixc	Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Hypertriglyceridemia, Hepatomegaly, ...	OMIM:613027
Micro Syndrome	Cryptorchidism, Hydronephrosis, Delayed puberty, Microphthalmia, Hypoplasia of penis, Hypoplastic...	ORPHA:2510
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Hypospadias, HbH hemoglobin, Cryptorchidism, Ventricular septal defect, Hydronephrosis, Perimembr...	OMIM:301040
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Optic nerve hypoplasia, Situs inversus totalis, Microphthalmia	OMIM:614833
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Hypoalbuminemia, Intestinal lymphangiectasia, Horseshoe kidney, Vesicoureteral reflux, Cryptorchi...	OMIM:235510
Cat Eye Syndrome	Hypoplastic left heart, Total anomalous pulmonary venous return, Tetralogy of Fallot, Horseshoe k...	OMIM:115470
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Leukemia, Atrial septal defect, Anophthalmia, Microphthalmia	ORPHA:2526
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Cerebrooculonasal Syndrome	Hypoplastic male external genitalia, Anophthalmia, Optic nerve hypoplasia	OMIM:605627
Mycosis Fungoides	Lymphadenopathy	OMIM:254400
1Q21.1 Microdeletion Syndrome	Vesicoureteral reflux, Cryptorchidism, Hydronephrosis, Attention deficit hyperactivity disorder, ...	ORPHA:250989
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Self-injurious behavior, Abnormality of the male genitalia, Cryptorchidism, Abnormal hemoglobin, ...	ORPHA:847
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Hypopituitarism, Increased B cell count, Absent peripheral lymph nodes in presence of infection, ...	ORPHA:98813
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Leukocytosis, Splenomegaly, Orchitis, Peritonitis, Abnormal myocardium morphology, Lymphadenopath...	ORPHA:32960
Neuroblastoma	Elevated circulating catecholamine level, Elevated urinary homovanillic acid, Increased circulati...	ORPHA:635
Fraser Syndrome 2	Unilateral renal agenesis, Renal hypoplasia, Ureteral agenesis, Hypoplasia of the thymus, Ambiguo...	OMIM:617666
Diamond-Blackfan Anemia 3	Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of...	OMIM:610629
Kaposi Sarcoma	Abnormality of the spleen, Abnormality of the liver, Generalized lymphadenopathy	ORPHA:33276
Sandestig-Stefanova Syndrome	Muscular ventricular septal defect, Perimembranous ventricular septal defect, Microphthalmia	OMIM:618804
Tyrosinemia, Type I	Hypermethioninemia, Nephrocalcinosis, Elevated urinary succinylacetone level, Hypertrophic cardio...	OMIM:276700
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Hypogonadism, Decreased testicular size, Decreased serum testosterone concentration, Splenomegaly...	OMIM:201100
Tangier Disease	Coronary artery stenosis, Hypocholesterolemia, Hepatosplenomegaly, Chronic noninfectious lymphade...	ORPHA:31150
Meckel Syndrome, Type 1	Accessory spleen, Elevated amniotic fluid alpha-fetoprotein, Malformation of the hepatic ductal p...	OMIM:249000
Fanconi Anemia	Cryptorchidism, Atrial septal defect, Microphthalmia, Hypospadias, Decreased fertility in males, ...	ORPHA:84
Baraitser-Winter Syndrome 2	Microphthalmia	OMIM:614583
Pearson Syndrome	Pancytopenia, Hepatic steatosis, Hypophosphatemia, Neutropenia, Hypoparathyroidism, Hepatomegaly,...	ORPHA:699
Basel-Vanagaite-Smirin-Yosef Syndrome	Clitoral hypertrophy, Ventricular septal defect, Hydronephrosis, Atrial septal defect, Microphtha...	OMIM:616449
Familial Mediterranean Fever	Stage 5 chronic kidney disease, Leukocytosis, Splenomegaly, Orchitis, Hepatomegaly, Peritonitis, ...	OMIM:249100
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Aminoaciduria, Nephrocalcinosis, Cardiomyopathy, Sideroblastic anemia, Splenomegaly, B lymphocyto...	OMIM:616084
Fryns Syndrome	Multicystic kidney dysplasia, Tetralogy of Fallot, Vesicoureteral reflux, Cryptorchidism, Hydrone...	ORPHA:2059
Syndromic Diarrhea	Hepatic fibrosis, Renal hypoplasia, Abnormal heart morphology, Lymphopenia, Tetralogy of Fallot, ...	ORPHA:84064
Bile Acid Synthesis Defect, Congenital, 1	Giant cell hepatitis, Intrahepatic cholestasis, Hypocholesterolemia, Splenomegaly, Cirrhosis, Ach...	OMIM:607765
Warburg Micro Syndrome 2	Small scrotum, Cryptorchidism, Hypoplastic labia majora, Microphthalmia, Micropenis	OMIM:614225
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Anemia, Hepatomegaly, Splenomegaly	OMIM:620296
Atelis Syndrome 2	Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, Attention defic...	OMIM:620185
Chédiak-Higashi Syndrome	Abnormality of neutrophil physiology, Hemophagocytosis, Abnormal natural killer cell morphology, ...	ORPHA:167
Hartsfield Syndrome	Microphthalmia	ORPHA:2117
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatic fibrosis, Periportal fibrosis, Multiple small medullary renal cysts, Portal hypertension,...	OMIM:263200
Microphthalmia, Lenz Type	Self-injurious behavior, Hydroureter, Cryptorchidism, Hydronephrosis, Microphthalmia, Hypospadias	ORPHA:568
Mend Syndrome	Aortic valve stenosis, Abnormal heart morphology, Elevated 8(9)-cholestenol, Cryptorchidism, Aggr...	ORPHA:401973
Multiple Myeloma	Nephropathy, Acute kidney injury, Elevated circulating creatinine concentration, Splenomegaly, Ly...	ORPHA:29073
Neuroendocrine Tumor Of The Rectum	Increased serum serotonin, Abnormal pulmonary valve cusp morphology, Chronic noninfectious lympha...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Increased serum serotonin, Abnormal pulmonary valve cusp morphology, Chronic noninfectious lympha...	ORPHA:100082
Bile Acid Synthesis Defect, Congenital, 3	Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatitis, Hyperbilirubinemia, Splenomegaly,...	OMIM:613812
Degcags Syndrome	Chronic kidney disease, Oral-pharyngeal dysphagia, Cholestasis, Hepatosplenomegaly, Pancytopenia,...	OMIM:619488
Jacobsen Syndrome	Annular pancreas, Cryptorchidism, Ventricular septal defect, Macular hypoplasia, Labial hypoplasi...	OMIM:147791
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Periportal fibrosis, Generalized aminoa...	OMIM:251880
Aarskog-Scott Syndrome	Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Decreased serum testost...	OMIM:305400
22Q11.2 Deletion Syndrome	Cryptorchidism, Ventricular septal defect, Atrial septal defect, Microphthalmia, Hypoparathyroidi...	ORPHA:567
Chromosome 1Q41-Q42 Deletion Syndrome	Microphthalmia, Ventricular septal defect, Cryptorchidism, Supernumerary nipple	OMIM:612530
Ring Chromosome 10 Syndrome	Hypocalcemia, Microphthalmia	ORPHA:1438
Holoprosencephaly 9	Anterior pituitary agenesis, Decreased response to growth hormone stimulation test, Panhypopituit...	OMIM:610829
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Supernumerary nipple, Aggressive behavior, Attention deficit hyperactivity disorder, Microphthalm...	OMIM:620098
Apolipoprotein C-Ii Deficiency	Increased circulating chylomicron concentration, Splenomegaly, Decreased circulating apolipoprote...	OMIM:207750
Fraser Syndrome	Small scrotum, Abnormal vagina morphology, Female pseudohermaphroditism, Cryptorchidism, Anophtha...	ORPHA:2052
Stromme Syndrome	Accessory spleen, Bilateral renal hypoplasia, Hydronephrosis, Microphthalmia, Optic nerve hypoplasia	OMIM:243605
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Elevated circulating creatine kinase concentration, Abnormally large globe, Microphthalmia	OMIM:615249
Autoimmune Lymphoproliferative Syndrome	Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive helper T cells, Abnormal proport...	ORPHA:3261
Waldenström Macroglobulinemia	Normocytic anemia, Renal insufficiency, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anorexia, Le...	ORPHA:33226
Meige Disease	Lymph node hypoplasia, Absence of lymph node germinal center	ORPHA:90186
Martsolf Syndrome 1	Cardiomyopathy, Cryptorchidism, Hypogonadotropic hypogonadism, Microphthalmia, Micropenis	OMIM:212720
Bile Acid Synthesis Defect, Congenital, 2	Intrahepatic cholestasis, Hyperbilirubinemia, Splenomegaly, Hepatomegaly, Jaundice	OMIM:235555
Meckel Syndrome, Type 2	Renal cyst, Bile duct proliferation, Microphthalmia	OMIM:603194
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Pancytopenia, Splenomegaly	OMIM:614979
Neuroendocrine Tumor Of Stomach	Increased serum serotonin, Abnormal pulmonary valve cusp morphology, Increased circulating ACTH l...	ORPHA:100075
Elliptocytosis 1	Jaundice, Hemolytic anemia, Splenomegaly, Elliptocytosis	OMIM:611804
Pallister-Hall Syndrome	Precocious puberty, Renal hypoplasia, Hydroureter, Decreased response to growth hormone stimulati...	OMIM:146510
Papillorenal Syndrome	Chronic kidney disease, Multicystic kidney dysplasia, Renal hypoplasia, Horseshoe kidney, Elevate...	OMIM:120330
Sting-Associated Vasculopathy, Infantile-Onset	Lymphopenia, Leukopenia, Follicular hyperplasia, Elevated circulating C-reactive protein concentr...	OMIM:615934
Lipodystrophy, Congenital Generalized, Type 1	Acute pancreatitis, Clitoral hypertrophy, Cardiomyopathy, Labial hypertrophy, Hyperinsulinemia, S...	OMIM:608594
Trichohepatoenteric Syndrome 1	Hypoalbuminemia, Hypermethioninemia, Increased circulating iron concentration, Hepatic fibrosis, ...	OMIM:222470
Intellectual Developmental Disorder, Autosomal Dominant 48	Hypospadias, Ventricular septal defect, Bicuspid aortic valve, Hyperactivity, Motor stereotypy	OMIM:617751
Fryns Syndrome	Hypospadias, Bifid scrotum, Polysplenia, Cryptorchidism, Ventricular septal defect, Hydronephrosi...	OMIM:229850
Meckel Syndrome 14	Hepatic fibrosis, Aplasia of the uterus, Ambiguous genitalia, Single ventricle, Microphthalmia, P...	OMIM:619879
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Transposition of the ...	OMIM:253800
Temtamy Syndrome	Self-mutilation, Microphthalmia	OMIM:218340
Gaucher Disease Type 3	Aortic valve calcification, Abnormal heart valve morphology, Pancytopenia, Splenomegaly, Hematuri...	ORPHA:77261
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Leukocytosis, Increased proportion of CD4-positive T cells, Lymphadenopathy, Neutrophilia, Elevat...	OMIM:617099
Stevenson-Carey Syndrome	Atrial septal defect, Microphthalmia	OMIM:611961
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Leukocytosis, Splenomegaly, Intraalveolar phospholipid accumulation	OMIM:618042
Tetraamelia-Multiple Malformations Syndrome	Multicystic kidney dysplasia, Cryptorchidism, Microphthalmia, Vaginal atresia, Septo-optic dysplasia	ORPHA:3301
Familial Mediterranean Fever	Nephropathy, Nephrocalcinosis, Ascites, Leukocytosis, Splenomegaly, Orchitis, Proteinuria, Perito...	ORPHA:342
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome	Aggressive behavior, Decreased serum insulin-like growth factor 1, Elevated circulating growth ho...	ORPHA:85327
Chromosome 17Q12 Duplication Syndrome	Atrial septal defect, Microphthalmia	OMIM:614526
Focal Dermal Hypoplasia	Supernumerary nipple, Horseshoe kidney, Bifid ureter, Aniridia, Cryptorchidism, Anophthalmia, Hyd...	OMIM:305600
Basel-Vanagaite-Smirin-Yosef Syndrome	Cholelithiasis, Male urethral meatus stenosis, Ventricular septal defect, Hydronephrosis, Aggress...	ORPHA:464738
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Gaucher Disease, Type Iiic	Aortic valve calcification, Pancytopenia, Splenomegaly, Mitral stenosis, Cardiomegaly, Mitral val...	OMIM:231005
Hereditary Methemoglobinemia	Methemoglobinemia	ORPHA:621
Diamond-Blackfan Anemia	Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin...	ORPHA:124
Cohen Syndrome	Cryptorchidism, Mitral valve prolapse, Ventricular septal defect, Delayed puberty, Neutropenia, M...	ORPHA:193
Linear Skin Defects With Multiple Congenital Anomalies 1	Clitoral hypertrophy, Histiocytoid cardiomyopathy, Ventricular septal defect, Ovotestis, Chordee,...	OMIM:309801
Microphthalmia, Syndromic 6	Small scrotum, Renal hypoplasia, Anterior hypopituitarism, Cryptorchidism, Anophthalmia, Hypothyr...	OMIM:607932
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Glycogen Storage Disease Ib	Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Hyperlipidemia, Splenom...	OMIM:232220
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Self-injurious behavior, Recurrent hand flapping, Persistence of hemoglobin F	OMIM:617101
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Macroorchidism, Hypospadias, Mitral valve prolapse, Unilateral microphthalmos	OMIM:618874
Holoprosencephaly-Postaxial Polydactyly Syndrome	Hypospadias, Cryptorchidism, Ambiguous genitalia, Adrenal hypoplasia, Abnormal cardiac septum mor...	ORPHA:2166
Marburg Hemorrhagic Fever	Neutrophilia in presence of infection, Hypoalbuminemia, Lymphopenia, Abnormal lymphocyte morpholo...	ORPHA:99826
Shwachman-Diamond Syndrome 1	Myocardial necrosis, Nephrocalcinosis, Persistence of hemoglobin F, Exocrine pancreatic insuffici...	OMIM:260400
T-Cell Immunodeficiency With Thymic Aplasia	Hypocalcemic tetany, Decreased proportion of naive T cells, Aplasia of the thymus, Hypothyroidism...	ORPHA:83471
Hyper-Igd Syndrome	Lymphadenitis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Elevated urine mevalonic acid leve...	OMIM:260920
Primary Triglyceride Deposit Cardiomyovasculopathy	Cardiomyopathy, Coronary artery stenosis, Abnormal cardiomyocyte morphology, Hyperlipidemia, Sple...	ORPHA:565612
Crimean-Congo Hemorrhagic Fever	Pancytopenia, Hematuria, Neutrophilia, Hepatomegaly, Anorexia, Jaundice, Epididymitis, Ascites, A...	ORPHA:99827
Mosaic Trisomy 1	Renal cortical cysts, Penile hypospadias, Ventricular septal defect, Hepatic agenesis, Renal cyst...	ORPHA:1692
Klatskin Tumor	Cholangiocarcinoma, Lymphadenopathy, Hepatomegaly, Jaundice, Extrahepatic cholestasis	ORPHA:99978
Myelofibrosis	Hemophagocytosis, Extramedullary hematopoiesis, Splenomegaly, Hepatomegaly, Myeloproliferative di...	OMIM:254450
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Abnormal blood inorganic cation concentration, Polycythemia, Micronodular cirrhosis, Increased to...	ORPHA:309854
Monosomy 18P	Hypothyroidism, Microphthalmia	ORPHA:1598
Hemophagocytic Syndrome Associated With An Infection	Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Abnormal T cell sub...	ORPHA:158048
Glycogen Storage Disease Ii	Urinary incontinence, Splenomegaly, Elevated circulating creatine kinase concentration, Cardiomeg...	OMIM:232300
Branchiooculofacial Syndrome	Supernumerary nipple, Ectopic thymus tissue, Cryptorchidism, Anophthalmia, Renal cyst, Microphtha...	OMIM:113620
Autoinflammatory Disease, Systemic, With Vasculitis	Hepatic fibrosis, Parotitis, Cholestasis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Increas...	OMIM:620376
Congenital Syphilis	Extramedullary hematopoiesis, Hepatosplenomegaly, Prolonged neonatal jaundice, Pancreatitis, Lymp...	ORPHA:499009
Neutral Lipid Storage Disease With Myopathy	Cardiomyopathy, Chronic pancreatitis, Splenomegaly, Hepatic steatosis, Elevated circulating creat...	OMIM:610717
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Hypospadias, Renal hypoplasia, Tetralogy of Fallot, Atrioventricular canal defect, Exocrine pancr...	ORPHA:508498
Squamous Cell Carcinoma Of The Anal Canal	Neoplasm of the liver, Lymphadenopathy	ORPHA:424019
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Nodular regenerative hyperplasia of liver, Increased mean corpuscular volume, Portal hypertension...	OMIM:620367
Kenny-Caffey Syndrome, Type 2	Hyperphosphatemia, Microphthalmia, Hypocalcemia, Anemia, Transient hypophosphatemia, Hypoparathyr...	OMIM:127000
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Lymphadenitis, Impaired oxidative burst, Splenomegaly, Granulomatosis, Lymphadenopathy, Hepatomeg...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Lymphadenitis, Impaired oxidative burst, Splenomegaly, Granulomatosis, Lymphadenopathy, Hepatomeg...	OMIM:233710
Dubowitz Syndrome	Aplastic anemia, Hypoplasia of the iris, Hypocholesterolemia, Cryptorchidism, Hyperactivity, Micr...	OMIM:223370
Chronic Visceral Acid Sphingomyelinase Deficiency	Cholelithiasis, Abnormal circulating lipid concentration, Decreased HDL cholesterol concentration...	ORPHA:77293
Trichothiodystrophy 4, Nonphotosensitive	Decreased fertility, Ventricular septal defect, Microphthalmia	OMIM:234050
Oculocerebrorenal Syndrome Of Lowe	Cryptorchidism, Hematuria, Hypophosphatemia, Microphthalmia, Proximal renal tubular acidosis, Mot...	ORPHA:534
Tetraamelia Syndrome 1	Absent external genitalia, Adrenal gland agenesis, Urethral atresia, Microphthalmia, Vaginal atre...	OMIM:273395
Triosephosphate Isomerase Deficiency	Normocytic anemia, Cholelithiasis, Splenomegaly, Macrocytic anemia, Cholecystitis, Prolonged neon...	OMIM:615512
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Rieger anomaly, Microphthalmia, Hypoplasia of the iris	OMIM:604229
Argininemia	Portal fibrosis, Micronodular cirrhosis, Cholestasis, Oroticaciduria, Hyperammonemia, Hyperargini...	OMIM:207800
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Oligosacchariduria, Microphthalmia	ORPHA:163649
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Stomatocytosis, Splenomegaly, Thrombocytopenia, Hemolytic anemia, Menorrhagia, Increased mean pla...	OMIM:153670
Adams-Oliver Syndrome 2	Microphthalmia	OMIM:614219
Autosomal Recessive Polycystic Kidney Disease	Cholestasis, Hepatosplenomegaly, Hypersplenism, Congenital hepatic fibrosis, Increased serum bile...	ORPHA:731
Immunodeficiency 87 And Autoimmunity	Dilated cardiomyopathy, Cervical lymphadenopathy, Lymphopenia, Decreased CD4:CD8 ratio, Biventric...	OMIM:619573
Joubert Syndrome 14	Renal cyst, Ventricular septal defect, Microphthalmia	OMIM:614424
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Lymphadenitis, Impaired oxidative burst, Splenomegaly, Granulomatosis, Lymphadenopathy, Hepatomeg...	OMIM:233690
Microphthalmia With Limb Anomalies	Horseshoe kidney, True anophthalmia, Cryptorchidism, Microphthalmia	ORPHA:1106
Frontonasal Dysplasia 3	Microphthalmia	OMIM:613456
Cutaneous Neuroendocrine Carcinoma	Merkel cell skin cancer, Carcinoid tumor, Chronic noninfectious lymphadenopathy, Lymphoid leukemia	ORPHA:79140
Oculofaciocardiodental Syndrome	Abnormal cardiac septum morphology, Mitral valve prolapse, Microphthalmia	ORPHA:2712
Graft Versus Host Disease	Hemophagocytosis, Hepatosplenomegaly, Hyperbilirubinemia, Lymphadenopathy, Chronic hepatitis, Acu...	ORPHA:39812
Primary Hepatic Neuroendocrine Carcinoma	Increased serum serotonin, Neuroendocrine neoplasm, Ascites, Chronic noninfectious lymphadenopath...	ORPHA:100085
Hereditary Orotic Aciduria	Aminoaciduria, Oroticaciduria, Abnormality of the ureter, Splenomegaly, Orotic acid crystalluria,...	ORPHA:30
Immunodeficiency 31C	Lymphopenia, Autoimmune hemolytic anemia, Splenomegaly, Hypothyroidism, Delayed puberty, Impaired...	OMIM:614162
Heart And Brain Malformation Syndrome	Ventricular septal defect, Microphthalmia	OMIM:616920
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Hilar lymph node enlargement, Cholestasis, Leukocytosis, Mitral valve prolapse, Hepatomegaly, Rig...	OMIM:620233
Isolated Biliary Atresia	Periportal fibrosis, Hypopituitarism, Atretic gallbladder, Cholestasis, Splenomegaly, Prolonged n...	ORPHA:30391
Aicardi-Goutieres Syndrome 7	Hepatitis, Increased circulating ferritin concentration, Hypertrophic cardiomyopathy, Pancytopeni...	OMIM:615846
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Annular pancreas, Vesicoureteral reflux, Cryptorchidism, Patent foramen ovale, Ventricular septal...	OMIM:616975
Gray Platelet Syndrome	Splenomegaly, Thrombocytopenia, Abnormal number of alpha granules, Menorrhagia	OMIM:139090
Thymoma	Aplastic anemia, Imbalanced hemoglobin synthesis, Neoplasm of the thyroid gland, Glomerulonephrit...	ORPHA:99867
Lymphangioleiomyomatosis	Abnormal morphology of female internal genitalia, Ascites, Abnormal urinary color, Pulmonary lymp...	ORPHA:538
Wilson Disease	Hypouricemia, Hyperbilirubinemia, Hepatic steatosis, Cirrhosis, Hepatomegaly, Hypoparathyroidism,...	OMIM:277900
Fetal Alcohol Syndrome	Atrial septal defect, Microphthalmia	ORPHA:1915
Acute Generalized Exanthematous Pustulosis	Cholestasis, Leukocytosis, Renal insufficiency, Eosinophilia, Lymphadenopathy, Neutropenia, Neutr...	ORPHA:293173
Nance-Horan Syndrome	Microphthalmia	ORPHA:627
Pancreatoblastoma	Pancreatic calcification, Jaundice, Abnormal lymph node morphology	ORPHA:677
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Testicular atrophy	OMIM:601163
Parenteral Nutrition-Associated Cholestasis	Hepatic fibrosis, Cholelithiasis, Hyperlipidemia, Splenomegaly, Hepatic steatosis, Portal hyperte...	ORPHA:567983
Duane-Radial Ray Syndrome	Renal hypoplasia, Optic disc hypoplasia, Horseshoe kidney, Crossed fused renal ectopia, Vesicoure...	OMIM:607323
Common Variable Immunodeficiency	Lymphopenia, Abnormality of the liver, Splenomegaly, Lymphadenopathy, Autoimmune thrombocytopenia...	ORPHA:1572
Hennekam Syndrome	Ascites, Lymphopenia, Horseshoe kidney, Splenomegaly, Hypocalcemia, Lymphadenopathy, Pulmonary ly...	ORPHA:2136
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Neutrophilia, Minimal change glomerulonephritis, Intraalveolar phospholipid accumulation, Hepatit...	OMIM:620565
Gaucher Disease	Aortic valve calcification, Pancytopenia, Hematuria, Cirrhosis, Hepatomegaly, Elevated circulatin...	ORPHA:355
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Abnormal heart morphology, Microphthalmia	OMIM:618571
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia	OMIM:167730
Histiocytoid Cardiomyopathy	Congenital aphakia, Ventricular septal defect, Cardiomegaly, Polycystic ovaries, Renal cyst, Micr...	ORPHA:137675
Cockayne Syndrome Type 3	Unilateral renal agenesis, Renal hypoplasia, Hydroureter, Urinary retention, Cardiomyopathy, Rena...	ORPHA:90324
Ileal Neuroendocrine Tumor	Increased serum serotonin, Hydronephrosis, Iron deficiency anemia, Lymphadenopathy, Small intesti...	ORPHA:100078
Liver Disease, Severe Congenital	Portal inflammation, Dilatation of the ventricular cavity, Hyperbilirubinemia, Hepatic steatosis,...	OMIM:619991
Hyperlipoproteinemia, Type Id	Increased circulating chylomicron concentration, Splenomegaly, Hypertriglyceridemia, Hyperlipopro...	OMIM:615947
Gallbladder Neuroendocrine Tumor	Biliary tract neoplasm, Neuroendocrine neoplasm, Ascites, Chronic noninfectious lymphadenopathy, ...	ORPHA:100086
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Decreased mean platelet volume, Cervical lymphadenopathy, Lymphocytosis, Lymphadenopathy, Thrombo...	OMIM:617718
Trichothiodystrophy 6, Nonphotosensitive	Increased HbA2 hemoglobin, Decreased mean corpuscular volume	OMIM:616943
Garg-Mishra Progeroid Syndrome	Microvesicular hepatic steatosis, Microphthalmia	OMIM:620601
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Absent nipple, Congenital hypothyroidism, Patent foramen ovale, Aplasia of the thymus, Hypothyroi...	OMIM:620186
Idiopathic Hypereosinophilic Syndrome	Dilated cardiomyopathy, Portal fibrosis, Cervical lymphadenopathy, Hepatosplenomegaly, Thrombocyt...	ORPHA:3260
Farber Disease	Hepatic fibrosis, Ascites, Hepatosplenomegaly, Lymphadenopathy, Thrombocytopenia, Intrahepatic ch...	ORPHA:333
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
Malakoplakia	Urinary bladder inflammation, Abnormality of the menstrual cycle, Dysuria, Urinary hesitancy, Fol...	ORPHA:556
Hardikar Syndrome	Portal inflammation, Cholestasis, Hepatosplenomegaly, Hypersplenism, Hyperbilirubinemia, Ventricu...	OMIM:301068
Hyperimmunoglobulinemia D With Periodic Fever	Hepatomegaly, Peritonitis, Lymphadenopathy	ORPHA:343
8Q21.11 Microdeletion Syndrome	Hypoplasia of penis, Cryptorchidism, Microphthalmia	ORPHA:284160
Cerebrooculofacioskeletal Syndrome 4	Abnormal heart morphology, Bilateral microphthalmos	OMIM:610758
Melkersson-Rosenthal Syndrome	Oligosacchariduria, Lymphadenopathy	ORPHA:2483
Malt Lymphoma	Anemia, Abnormality of the thyroid gland, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:52417
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Buphthalmos, Elevated circulating creatine kinase concentration, Microphthalmia	OMIM:616538
Igg4-Related Submandibular Gland Disease	Enlarged lacrimal glands, Abnormal pancreas morphology, Abnormality of the submandibular glands, ...	ORPHA:449432
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Bartsocas-Papas Syndrome 2	Microphthalmia	OMIM:619339
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Abnormal cardiac septum morphology, Microphthalmia	ORPHA:1352
Mosaic Variegated Aneuploidy Syndrome	Multicystic kidney dysplasia, Ascites, Vaginal neoplasm, Ambiguous genitalia, Hypothyroidism, Atr...	ORPHA:1052
Treacher-Collins Syndrome	Small scrotum, Cryptorchidism, Hypoplasia of the thymus, Abnormality of the adrenal glands, Micro...	ORPHA:861
Lysinuric Protein Intolerance	Aminoaciduria, Hyperlysinuria, Intraalveolar phospholipid accumulation, Hemophagocytosis, Increas...	OMIM:222700
Coccidioidomycosis	Abnormality of the male genitalia, Abnormality of the spleen, Abnormality of the liver, Renal ins...	ORPHA:228123
Linear Skin Defects With Multiple Congenital Anomalies 3	Thyroid C cell hyperplasia, Dilated cardiomyopathy, Histiocytoid cardiomyopathy, Microphthalmia	OMIM:300952
Cystinosis, Nephropathic	Decreased circulating carnitine concentration, Hematuria, Hypophosphatemia, Hepatomegaly, Dysphag...	OMIM:219800
Hydrolethalus Syndrome 1	Accessory spleen, Abnormal vagina morphology, Complete atrioventricular canal defect, Ventricular...	OMIM:236680
Immunodeficiency 82 With Systemic Inflammation	Hypoalbuminemia, Reduced natural killer cell count, Anoperineal fistula, Hepatitis, Decreased pro...	OMIM:619381
Ohdo Syndrome, X-Linked	Small scrotum, Cryptorchidism, Shawl scrotum, Microphthalmia, Micropenis	OMIM:300895
Chromosome 8Q21.11 Deletion Syndrome	Micropenis, Cryptorchidism, Microphthalmia	OMIM:614230
Hyperlipoproteinemia, Type I	Lactescent serum, Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipid...	OMIM:238600
Sarcoidosis	Abnormal lymph node morphology, Abnormal reproductive system morphology, Hepatomegaly, Tubulointe...	ORPHA:797
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Aminoaciduria, Renal hypoplasia, Nephrocalcinosis, Renal artery stenosis, Splenomegaly, Hypocalce...	OMIM:617913
Autosomal Dominant Kenny-Caffey Syndrome	Hyperphosphatemia, Bilateral microphthalmos, Decreased testicular size, Hypocalcemic tetany, Abno...	ORPHA:93325
Joubert Syndrome 2	Nephronophthisis, Renal insufficiency, Renal cyst, Microphthalmia, Hypoplastic male external geni...	OMIM:608091
Microphthalmia, Syndromic 1	Renal hypoplasia, Hydroureter, Anophthalmia, Cryptorchidism, Self-mutilation, Aggressive behavior...	OMIM:309800
Microphthalmia, Isolated, With Corectopia	Microphthalmia	OMIM:156900
Autosomal Dominant Keratitis	Bilateral microphthalmos, Aniridia, Hypoplasia of the fovea, Macular hypoplasia, Hypoplastic iris...	ORPHA:2334
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Microphthalmia	OMIM:300863
Pulmonary Capillary Hemangiomatosis	Pericardial effusion, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:199241
Phace Association	Congenital hypothyroidism, Ventricular septal defect, Lingual thyroid, Microphthalmia, Optic nerv...	OMIM:606519
Blepharophimosis, Ptosis, And Epicanthus Inversus	Irregular menstruation, Female infertility, Amenorrhea, Microphthalmia, Increased circulating gon...	OMIM:110100
Trisomy 18	Abnormal morphology of female internal genitalia, Cryptorchidism, Ventricular septal defect, Hydr...	ORPHA:3380
Granulomatous Disease, Chronic, X-Linked	Lymphadenitis, Ascites, Impaired oxidative burst, Splenomegaly, Granulomatosis, Lymphadenopathy, ...	OMIM:306400
Behçet Disease	Renal insufficiency, Splenomegaly, Orchitis, Abnormal myocardium morphology, Lymphadenopathy, Pan...	ORPHA:117
2Q31.1 Microdeletion Syndrome	Cryptorchidism, Ventricular septal defect, Atrial septal defect, Microphthalmia, Abnormality of t...	ORPHA:251014
Cockayne Syndrome B	Hypoplasia of the iris, Renal insufficiency, Splenomegaly, Cryptorchidism, Proteinuria, Hepatomeg...	OMIM:133540
Tuberous Sclerosis Complex	Chronic kidney disease, Cardiac rhabdomyoma, Renal angiomyolipoma, Parathyroid adenoma, Polycysti...	ORPHA:805
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Cryptorchidism, Elevated circulating creatine kinase concentration, Microphthalmia, Buphthalmos, ...	OMIM:236670
3Q29 Microduplication Syndrome	Aniridia, Ventricular septal defect, Microphthalmia	ORPHA:251038
Galloway-Mowat Syndrome 3	Hypoalbuminemia, Stage 5 chronic kidney disease, Proteinuria, Diffuse mesangial sclerosis, Glomer...	OMIM:617729
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Renal hypoplasia, Cryptorchidism, Renal cyst, Ambiguous genitalia, Microphthalmia	OMIM:616300
Proteasome-Associated Autoinflammatory Syndrome 1	Irregular menstruation, Elevated circulating thyroid-stimulating hormone concentration, Parotitis...	OMIM:256040
Lymphatic Malformation 6	Intestinal lymphangiectasia, Ascites, Splenomegaly, Hypothyroidism, Atrial septal defect, Hydroce...	OMIM:616843
Lowe Oculocerebrorenal Syndrome	Proximal renal tubular acidosis, Elevated amniotic fluid alpha-fetoprotein, Aminoaciduria, Low-mo...	OMIM:309000
Autosomal Recessive Malignant Osteopetrosis	Abnormal pulmonary valve morphology, Splenomegaly, Hypocalcemia, Hepatomegaly, Hypophosphatemia, ...	ORPHA:667
Townes-Brocks Syndrome	Abnormal vagina morphology, Cryptorchidism, Atrial septal defect, Rectoperineal fistula, Micropht...	ORPHA:857
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Monosomy 9Q22.3	Ovarian fibroma, Hyperactivity, Cardiac fibroma, Microphthalmia	ORPHA:77301
Cockayne Syndrome	Urinary incontinence, Renal hypoplasia, Unilateral renal agenesis, Absence of pubertal developmen...	ORPHA:191
Bosma Arhinia Microphthalmia Syndrome	Microphthalmia, Cryptorchidism, Hypogonadotropic hypogonadism, Hypoplastic labia majora, Primary ...	OMIM:603457
Otodental Syndrome	Lens coloboma, Microphthalmia	ORPHA:2791
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Uterus didelphys, Tetralogy of Fallot, Septate vagina, Absent gallbladder, Complete atrioventricu...	OMIM:617925
Congenital Primary Aphakia	Aniridia, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Phthi...	ORPHA:83461
Teebi-Shaltout Syndrome	Aortic valve stenosis, Ureteral stenosis, Horseshoe kidney, Ventricular septal defect, Hydronephr...	OMIM:272950
Neuroendocrine Neoplasm Of Appendix	Increased serum serotonin, Primary hypercortisolism, Chronic noninfectious lymphadenopathy, Adren...	ORPHA:100079
Alkaptonuria	Aortic valve stenosis, Aortic valve calcification, Aminoaciduria, Elevated urinary homogentisic a...	ORPHA:56
Bartsocas-Papas Syndrome 1	Absent external genitalia, Bilateral cryptorchidism, Patent foramen ovale, Hypoplastic labia majo...	OMIM:263650
Cornea Plana 2, Autosomal Recessive	Microphthalmia	OMIM:217300
Frontonasal Dysplasia 2	Microphthalmia, Bilateral cryptorchidism	OMIM:613451
Frontofacionasal Dysplasia	Microphthalmia	ORPHA:1791
Spondyloenchondrodysplasia With Immune Dysregulation	Lymphopenia, T lymphocytopenia, Hypothyroidism, Tubulointerstitial fibrosis, Lymphadenopathy, Neu...	OMIM:607944
Focal Dermal Hypoplasia	Multicystic kidney dysplasia, Hypoplasia of the iris, Horseshoe kidney, Ventricular septal defect...	ORPHA:2092
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Buphthalmos, Microphthalmia	OMIM:212550
Beckwith-Wiedemann Syndrome	Nephropathy, Cryptorchidism, Hepatoblastoma, Hepatomegaly, Visceromegaly, Polycythemia, Abnormal ...	ORPHA:116
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Primary amenorrhea, Testicular atrophy, Premature ovarian insufficiency, Dysphagia, Secondary ame...	OMIM:157640
Steinfeld Syndrome	Abnormal heart morphology, Absent gallbladder, Microphthalmia	OMIM:184705
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Microphthalmia	ORPHA:163966
Diamond-Blackfan Anemia 1	Renal hypoplasia, Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red ce...	OMIM:105650
Rodrigues Blindness	Microphthalmia	OMIM:268320
Kawasaki Disease	Hypoalbuminemia, Hepatitis, Double outlet right ventricle with subpulmonary ventricular septal de...	ORPHA:2331
Galloway-Mowat Syndrome 1	Hypoalbuminemia, Focal segmental glomerulosclerosis, Hypoplasia of the iris, Renal insufficiency,...	OMIM:251300
Sarcoidosis, Susceptibility To, 1	Abnormal salivary gland morphology, Pancytopenia, Splenomegaly, Hepatomegaly, Generalized lymphad...	OMIM:181000
Porphyria, Congenital Erythropoietic	Cholelithiasis, Elevated circulating uroporphyrin concentration, Splenomegaly, Red urine, Hepatom...	OMIM:263700
Anterior Segment Dysgenesis 7	Buphthalmos, Microphthalmia	OMIM:269400
Chondrodysplasia Punctata 2, X-Linked Dominant	Hydronephrosis, Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol, Microphthalmia	OMIM:302960
Cushing Syndrome Due To Ectopic Acth Secretion	Increased circulating cortisol level, Abnormal lymph node morphology, Increased urinary cortisol ...	ORPHA:99889
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia	OMIM:305390
Xeroderma Pigmentosum, Complementation Group B	Hypogonadism, Microphthalmia	OMIM:610651
Anterior Segment Dysgenesis 2	Microphthalmia, Aniridia, Anterior segment of eye aplasia, Congenital aphakia	OMIM:610256
Pallister-Hall Syndrome	Small scrotum, Hydrometrocolpos, Hypopituitarism, Central adrenal insufficiency, Cryptorchidism, ...	ORPHA:672
Phace Syndrome	Ectopic thyroid, Abnormal heart morphology, Tetralogy of Fallot, Hypothyroidism, Abnormal cardiac...	ORPHA:42775
Trichothiodystrophy	Increased mean corpuscular hemoglobin concentration, Bilateral microphthalmos, Gonadal dysgenesis...	ORPHA:33364
Digeorge Syndrome	Hepatic steatosis, Ovarian cyst, Ventricular septal defect, Cholelithiasis, Parathyroid hypoplasi...	OMIM:188400
Norrie Disease	Aggressive behavior, Buphthalmos, Hypoplasia of the iris, Microphthalmia	OMIM:310600
Chromosome 13Q14 Deletion Syndrome	Supernumerary nipple, Cryptorchidism, Patent foramen ovale, Ventricular septal defect, Microphtha...	OMIM:613884
Pelvis-Shoulder Dysplasia	Microphthalmia	OMIM:169550
Trichothiodystrophy 1, Photosensitive	Hypogonadism, Microphthalmia	OMIM:601675
Adams-Oliver Syndrome 1	Aortic valve stenosis, Imperforate hymen, Hypoplastic left heart, Supernumerary nipple, Tetralogy...	OMIM:100300
X-Linked Dominant Chondrodysplasia Punctata	Hydronephrosis, Microphthalmia	ORPHA:35173
Renpenning Syndrome 1	Renal hypoplasia, Tetralogy of Fallot, Decreased testicular size, Situs inversus totalis, Phimosi...	OMIM:309500
Selective Igm Deficiency	Decreased proportion of transitional B cells, Lymphadenitis, Decreased proportion of CD8-positive...	ORPHA:331235
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Bilateral microphthalmos, Optic nerve hypoplasia	OMIM:607597
Okamoto Syndrome	Aortic valve stenosis, Urinary incontinence, Abnormally large globe, Abnormal heart morphology, A...	ORPHA:2729
Incontinentia Pigmenti	Supernumerary nipple, Breast aplasia, Breast hypoplasia, Leukocytosis, Hypoplasia of the fovea, H...	OMIM:308300
Hallermann-Streiff Syndrome	Microphthalmia, Cryptorchidism, Hyperactivity	OMIM:234100
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Absent natural killer cells, Lymphopenia, Absent peripheral lymph nodes in presence of infection,...	OMIM:600802
Igg4-Related Ophthalmic Disease	Sialadenitis, Orchitis, Prostatitis, Abnormality of the anterior pituitary, Eosinophilia, Lymphad...	ORPHA:449563
Vitreoretinochoroidopathy	Microphthalmia	OMIM:193220
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microphthalmia	ORPHA:231736
Curry-Jones Syndrome	Microphthalmia	ORPHA:1553
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Total anomalous pulmonary venous return, Bifid scrotum, Horseshoe kidney, Cryptorchidism, Atrial ...	OMIM:609945
Nasopalpebral Lipoma-Coloboma Syndrome	Bilateral microphthalmos, Microphthalmia	ORPHA:2399
Microphthalmia/Coloboma 12	Optic nerve aplasia, Vesicoureteral reflux, Microphthalmia	OMIM:120200
Multiple Endocrine Neoplasia Type 2	Thyroid C cell hyperplasia, Elevated circulating calcitonin concentration, Elevated circulating p...	ORPHA:653
Leptospirosis	Acute kidney injury, Hepatitis, Cellular urinary casts, Lymphadenopathy, Thrombocytopenia, Anorex...	ORPHA:509
Acquired Methemoglobinemia	Methemoglobinemia	ORPHA:464453
Immunodeficiency 55	Lymphopenia, Absent natural killer cells, Lymphadenopathy, Neutropenia	OMIM:617827
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Buphthalmos, Elevated circulating creatine kinase concentration, Microphthalmia	OMIM:613150
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Microphthalmia	OMIM:617306
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Hypospadias, Abnormal heart morphology, Cryptorchidism, Patent foramen ovale, Ventricular septal ...	ORPHA:500159
Roberts Syndrome	Clitoral hypertrophy, Long penis, Cryptorchidism, Thrombocytopenia, Microphthalmia, Polycystic ki...	ORPHA:3103
Cousin Syndrome	Ambiguous genitalia, male, Ambiguous genitalia, female, Hydronephrosis, Microphthalmia	OMIM:260660
Incontinentia Pigmenti	Microphthalmia, Eosinophilia, Attention deficit hyperactivity disorder, Supernumerary nipple	ORPHA:464
Yunis-Varon Syndrome	Clitoral hypertrophy, Bilateral microphthalmos, Cardiomyopathy, Tetralogy of Fallot, Renal artery...	ORPHA:3472
Skin Creases, Congenital Symmetric Circumferential, 1	Hypoplastic nipples, Microphthalmia	OMIM:156610
Pierson Syndrome	Hypoplasia of the iris, Rieger anomaly, Stage 5 chronic kidney disease, Proteinuria, Macular hypo...	OMIM:609049
Primary Sjögren Syndrome	Normocytic anemia, Biliary cirrhosis, Parotitis, Chronic active hepatitis, Lymphopenia, Leukopeni...	ORPHA:289390
Familial Exudative Vitreoretinopathy	Microphthalmia	ORPHA:891
Basal Cell Nevus Syndrome 1	Cardiac rhabdomyoma, Cardiac fibroma, Ovarian carcinoma, Ovarian fibroma, Microphthalmia	OMIM:109400
Microphthalmia/Coloboma 9	Microphthalmia	OMIM:615145
Pelvis-Shoulder Dysplasia	Hydronephrosis, Ambiguous genitalia, Bilateral microphthalmos	ORPHA:2839
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Acro-Renal-Ocular Syndrome	Optic disc hypoplasia, Tetralogy of Fallot, Horseshoe kidney, Crossed fused renal ectopia, Vesico...	ORPHA:959
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Self-injurious behavior, Hypospadias, Unilateral renal agenesis, Microphallus, Bilateral micropht...	ORPHA:468631
Frontorhiny	Hypopituitarism, Diabetes insipidus, Microphthalmia	ORPHA:391474
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Elevated circulating creatine kinase concentration, Optic nerve hypoplasia, Microphthalmia	OMIM:614643
Rothmund-Thomson Syndrome, Type 2	Hypogonadism, Annular pancreas, Cryptorchidism, Microphthalmia	OMIM:268400
Hallermann-Streiff Syndrome	Hypothyroidism, Cryptorchidism, Abdominal situs inversus, Microphthalmia	ORPHA:2108
Mycophenolate Mofetil Embryopathy	Ventricular septal defect, Ectopic kidney, Microphthalmia	ORPHA:268249
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Anemia, Hepatosplenomegaly, Lymphadenopathy	ORPHA:85408
Steinert Myotonic Dystrophy	Male hypogonadism, Cholelithiasis, Impotence, Dilated cardiomyopathy, Oral-pharyngeal dysphagia, ...	ORPHA:273
Systemic Lupus Erythematosus	Leukopenia, Hematuria, Proteinuria, Lupus nephritis, Lymphadenopathy, Thrombocytopenia, Anorexia,...	ORPHA:536
Ectodermal Dysplasia-Blindness Syndrome	Microphthalmia	ORPHA:1806
Blau Syndrome	Nephropathy, Abnormality of the liver, Stage 5 chronic kidney disease, Splenomegaly, Lymphadenopa...	ORPHA:90340
Lymphedema-Distichiasis Syndrome	Tetralogy of Fallot, Ventricular septal defect, Microphthalmia	OMIM:153400
African Trypanosomiasis	Urinary incontinence, Abnormality of the menstrual cycle, Hepatosplenomegaly, Renal insufficiency...	ORPHA:3385
8Q24.3 Microdeletion Syndrome	Ectopic posterior pituitary, Unilateral renal agenesis, Bilateral microphthalmos, Bilateral renal...	ORPHA:508488
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Aortic valve stenosis, Multicystic kidney dysplasia, Cryptorchidism, Bicuspid aortic valve, Chord...	ORPHA:261537
Fontaine Progeroid Syndrome	Small scrotum, Absent nipple, Abnormal heart morphology, Cryptorchidism, Bicuspid aortic valve, H...	OMIM:612289
Myhre Syndrome	Aortic valve stenosis, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Microphth...	OMIM:139210
Oculodentodigital Dysplasia, Autosomal Recessive	Microphthalmia	OMIM:257850
Monosomy 9P	Ureteropelvic junction obstruction, Cryptorchidism, Ambiguous genitalia, Microphthalmia, Hypospadias	ORPHA:261112
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Tetralogy of Fallot, Overriding aorta, Absent gallbladder, Microphthalmia	ORPHA:3186
Roberts-Sc Phocomelia Syndrome	Accessory spleen, Clitoral hypertrophy, Long penis, Horseshoe kidney, Enlarged labia minora, Cryp...	OMIM:268300
Skin Creases, Congenital Symmetric Circumferential, 2	Small scrotum, Ureterocele, Cryptorchidism, Microphthalmia, Hypospadias	OMIM:616734
Mowat-Wilson Syndrome	Aortic valve stenosis, Multicystic kidney dysplasia, Cryptorchidism, Bicuspid aortic valve, Chord...	ORPHA:2152
Craniofacial Microsomia 1	Multicystic kidney dysplasia, Tetralogy of Fallot, Vesicoureteral reflux, Anophthalmia, Ureterope...	OMIM:164210
Nance-Horan Syndrome	Microphthalmia	OMIM:302350
Igg4-Related Dacryoadenitis And Sialadenitis	Abnormal salivary gland morphology, Abnormality of the submandibular glands, Enlargement of parot...	ORPHA:79078
Johanson-Blizzard Syndrome	Clitoral hypertrophy, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Hepatomega...	OMIM:243800
Oculodentodigital Dysplasia	Neurogenic bladder, Atrial septal defect, Microphthalmia	OMIM:164200
Microcephaly-Micromelia Syndrome	Microphthalmia	OMIM:251230
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Microphthalmia, Supernumerary nipple	ORPHA:1236
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Hypotriglyceridemia, Microphthalmia	ORPHA:85167
Oculopalatocerebral Syndrome	Microphthalmia	OMIM:257910
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Aortic valve stenosis, Multicystic kidney dysplasia, Cryptorchidism, Ventricular septal defect, B...	ORPHA:261552
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Generalized lymphadenopathy	OMIM:620232
Premature Aging Syndrome, Penttinen Type	Elevated circulating thyroid-stimulating hormone concentration, Microphthalmia	OMIM:601812
Aicardi Syndrome	Precocious puberty, Hepatoblastoma, Delayed puberty, Microphthalmia	ORPHA:50
Norrie Disease	Self-injurious behavior, Uterine rupture, Hypoplasia of the iris, Cryptorchidism, Motor stereotyp...	ORPHA:649
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Increased hepatic echogenicity, Microphthalmia	OMIM:608940
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Microphthalmia	OMIM:618727
Persistent Hyperplastic Primary Vitreous	Phthisis bulbi, Macular hypoplasia, Buphthalmos, Microphthalmia	ORPHA:91495
X-Linked Intellectual Disability, Snyder Type	Hypospadias, Abnormality of the Leydig cells, Cryptorchidism, Testicular atrophy, Ectopic kidney	ORPHA:3063
Treacher Collins Syndrome 1	Abnormal heart morphology, Bilateral microphthalmos, Cryptorchidism, Abnormal parotid gland morph...	OMIM:154500
Holoprosencephaly 1	Microphthalmia, Adrenal hypoplasia, Single ventricle, Micropenis, Diabetes insipidus	OMIM:236100
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Phthisis bulbi, Buphthalmos, Microphthalmia	OMIM:221900
Xeroderma Pigmentosum, Complementation Group D	Microphthalmia	OMIM:278730
Mowat-Wilson Syndrome	Bifid scrotum, Supernumerary nipple, Abnormal heart morphology, Cryptorchidism, Ventricular septa...	OMIM:235730
Aicardi Syndrome	Precocious puberty, Hepatoblastoma, Microphthalmia	OMIM:304050
Linear Nevus Sebaceus Syndrome	Microphthalmia, Adenoma sebaceum	ORPHA:2612
Witteveen-Kolk Syndrome	Microphallus, Male urethral meatus stenosis, Decreased response to growth hormone stimulation tes...	OMIM:613406
Momo Syndrome	Bilateral microphthalmos	ORPHA:2563
Oculoauricular Syndrome	Macular hypoplasia, Microphakia, Phthisis bulbi, Microphthalmia	OMIM:612109
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Self-injurious behavior, Muscular ventricular septal defect, Truncus arteriosus, Bicuspid aortic ...	OMIM:612474
Neu-Laxova Syndrome 1	Cryptorchidism, Patent foramen ovale, Ventricular septal defect, Transposition of the great arter...	OMIM:256520
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Microphthalmia	ORPHA:364577
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Ventricular septal hypertrophy, Ventricular septal defect, Microphthalmia	OMIM:608670
Curry-Jones Syndrome	Microphthalmia	OMIM:601707
Alström Syndrome	Chronic kidney disease, Testicular fibrosis, Decreased circulating T4 concentration, Hyperinsulin...	ORPHA:64
Osteoporosis-Pseudoglioma Syndrome	Phthisis bulbi, Ventricular septal defect, Microphthalmia	OMIM:259770
Acrofrontofacionasal Dysostosis 1	Microphthalmia	OMIM:201180
Oculo-Palato-Cerebral Syndrome	Microphthalmia	ORPHA:2714
Plague	Lymphadenitis, Splenomegaly, Anorexia, Hepatomegaly, Enlarged mesenteric lymph node, Endocarditis	ORPHA:707
Traboulsi Syndrome	Homocystinuria, Microphthalmia	OMIM:601552
Holoprosencephaly 7	Panhypopituitarism, Bilateral microphthalmos, Microphthalmia	OMIM:610828
Neuroocular Syndrome 1	Patent foramen ovale, Hypoplasia of the fovea, Attention deficit hyperactivity disorder, Micropht...	OMIM:619539
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Buphthalmos, Elevated circulating creatine kinase concentration, Hypoplasia of the retina, Microp...	OMIM:253280
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Tetralogy of Fallot, Microphthalmia	ORPHA:306542
Isolated Arrhinia	Microphthalmia	ORPHA:1134
Chikungunya	Cervical lymphadenopathy, Lymphadenopathy	ORPHA:324625
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hypoplasia of the iris, Elevated circulating creatine kinase concentration, Hemolytic anemia, Mic...	OMIM:175780
Adenocarcinoma Of The Anal Canal	Neoplasm of the liver, Lymphadenopathy	ORPHA:424016
Holoprosencephaly 2	Anterior pituitary agenesis, Adrenal hypoplasia, Single ventricle, Microphthalmia, Diabetes insip...	OMIM:157170
Monosomy 13Q14	Microphthalmia	ORPHA:1587
Frontofacionasal Dysplasia	Microphthalmia	OMIM:229400

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.

Phenotype	Allele	Zygosity	Life Stage
Small intestine - MPATH pathological process term hyperplasia	Rac1^em1(IMPC)Mbp	HET	Early adult
Lymph node - MPATH pathological process term hyperplasia	Rac1^em1(IMPC)Mbp	HET	Early adult
Spleen - MPATH pathological process term hyperplasia	Rac1^em1(IMPC)Mbp	HET	Early adult

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 Rac1.

No publications found that use IMPC mice or data for Rac1.

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MGI Allele	Allele Type	Produced
Rac1^em1(IMPC)Mbp	Exon Deletion	Mice, Tissue

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Rac1 MGI:97845

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

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X-ray

Gross Morphology Embryo E9.5

Histopathology

Human diseases caused by Rac1 mutations

Histopathology

IMPC related publications

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