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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
anophthalmia	Rac1^em1(IMPC)Mbp	HET	Early adult	0.00
microphthalmia	Rac1^em1(IMPC)Mbp	HET	Early adult	0.00
enlarged lymph nodes	Rac1^em1(IMPC)Mbp	HET	Early adult	0.00
small testis	Rac1^em1(IMPC)Mbp	HET	Early adult	0.00
small heart	Rac1^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal spleen morphology	Rac1^em1(IMPC)Mbp	HET	Early adult	0.00
small kidney	Rac1^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal eye morphology	Rac1^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal lymph node morphology	Rac1^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal heart morphology	Rac1^em1(IMPC)Mbp	HET	Early adult	0.00
enlarged spleen	Rac1^em1(IMPC)Mbp	HET	Early adult	0.00
preweaning lethality, complete penetrance	Rac1^em1(IMPC)Mbp	HOM	Early adult	0.00
increased circulating alkaline phosphatase level	Rac1^em1(IMPC)Mbp	HET	Early adult	3.17×10^-05
embryonic lethality prior to organogenesis	Rac1^em1(IMPC)Mbp	HOM	E9.5	0.00
hyperactivity	Rac1^em1(IMPC)Mbp	HET	Early adult	2.00×10^-11
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

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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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Histopathology

Images

9 Images

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Gross Morphology Embryo E9.5

Images

4 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, Hyperactivity, Motor stereotypy, Bicuspid aortic valve, Ventricular septal defect	OMIM:617751
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom		Hypospadias, Patent foramen ovale, Ventricular septal defect, Diabetes mellitus, Abnormal heart m...	ORPHA:500159

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

Disease	Matching phenotypes	Source
Hemoglobin D Disease	Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ...	ORPHA:90039
Hepatic Venoocclusive Disease With Immunodeficiency	Abnormality of the liver, Absence of lymph node germinal center, Endocardial fibrosis	OMIM:235550
Microphthalmia, Syndromic 12	Microphthalmia, Anophthalmia, Hypoplastic left atrium, Ventricular septal defect, Bicornuate uter...	OMIM:615524
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Infertility, Abnormal lymph node morphology	OMIM:136580
Gombo Syndrome	Delayed puberty, Microphthalmia, Abnormal heart morphology	OMIM:233270
Mantle Cell Lymphoma	Anorexia, Splenomegaly, Lymphadenopathy	ORPHA:52416
Immunodeficiency 38 With Basal Ganglia Calcification	Lymphadenopathy, Axillary lymphadenopathy, Inguinal lymphadenopathy	OMIM:616126
Matthew-Wood Syndrome	Annular pancreas, Microphthalmia, Aplasia/Hypoplasia of the pancreas, Anophthalmia, Vesicouretera...	ORPHA:2470
Reticuloendotheliosis, X-Linked	Jaundice, Anemia, Lymphadenopathy, Hepatosplenomegaly	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, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia	OMIM:613978
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Pulmonary Nodular Lymphoid Hyperplasia	Plasmacytosis, Mediastinal lymphadenopathy, Follicular hyperplasia	ORPHA:60026
Meckel Syndrome, Type 8	Enlarged kidney, Microphthalmia, Anophthalmia, Polycystic kidney dysplasia, Pericardial effusion,...	OMIM:613885
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E...	OMIM:603902
Hemochromatosis, Type 2B	Cirrhosis, Hepatomegaly, Anemia, Secondary amenorrhea, Cardiomyopathy, Increased circulating iron...	OMIM:613313
Congenital Toxoplasmosis	Microphthalmia, Jaundice, Anemia, Lymphadenopathy, Hepatomegaly, Ascites, Thrombocytopenia, Cardi...	ORPHA:858
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:231393
Hemoglobin E-Beta-Thalassemia Syndrome	Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin	ORPHA:231249
Microphthalmia/Coloboma 10	Microphthalmia, Anophthalmia	OMIM:616428
Microphthalmia, Syndromic 9	Multilobulated spleen, Bilateral microphthalmos, Anophthalmia, Hypoplastic left atrium, Pelvic ki...	OMIM:601186
Anemia, Congenital Dyserythropoietic, Type Iv	Anemia of inadequate production, Reticulocytosis, Unconjugated hyperbilirubinemia, Circulating nu...	OMIM:613673
Microphthalmia/Coloboma 5	Bilateral microphthalmos, Microphthalmia, Anophthalmia	OMIM:611638
Laryngeal Neuroendocrine Tumor	Anorexia, Adrenocorticotropic hormone excess, Oral-pharyngeal dysphagia, Elevated circulating car...	ORPHA:100083
Beta-Thalassemia	Hepatomegaly, Anemia, Abnormality of iron homeostasis, Cholelithiasis, Hypertrophic cardiomyopath...	ORPHA:848
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune thrombocytope...	ORPHA:444463
Hemoglobin E Disease	Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H...	ORPHA:2133
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hypertriglyceridemia, Hepatomegaly, Jaundice, Hemophagocytosis, Anemia, Lymphadenopathy, Thromboc...	OMIM:603552
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Anemia, Abnormal hemoglobin, Abnormal cardiac septum morphology	ORPHA:3319
Mmep Syndrome	Microphthalmia, Cryptorchidism, Ventricular septal defect	ORPHA:3434
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Oculocerebrocutaneous Syndrome	Microphthalmia, Cryptorchidism, Anophthalmia	OMIM:164180
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Immunodeficiency 104	Splenomegaly, Hepatomegaly, Lymphadenopathy, T lymphocytopenia	OMIM:608971
Immunodeficiency 75 With Lymphoproliferation	Follicular hyperplasia, Hepatosplenomegaly, Lymphadenopathy, Decreased proportion of class-switch...	OMIM:619126
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil...	ORPHA:766
Hemochromatosis, Type 2A	Cirrhosis, Hepatomegaly, Azoospermia, Infertility, Cardiomyopathy, Increased circulating iron con...	OMIM:602390
Trisomy 13	Microphthalmia, Anophthalmia, Aplasia/Hypoplasia of the iris, Ventricular septal defect, Abnormal...	ORPHA:3378
8p23.1 deletion syndrome	Atrioventricular canal defect, Hyperactivity, Abnormal heart morphology, Atrial septal defect, Cr...	DECIPHER:39
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
Neutropenia, Severe Congenital, 9, Autosomal Dominant	3-Methylglutaconic aciduria, Splenomegaly	OMIM:619813
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Burkitt Lymphoma	Abnormal lymph node morphology, Hyperuricemia, Abnormality of the ovary, Decreased proportion of ...	ORPHA:543
Hemochromatosis, Type 1	Cirrhosis, Hepatomegaly, Azoospermia, Hepatocellular carcinoma, Cardiomyopathy, Testicular atroph...	OMIM:235200
Neutrophilia, Hereditary	Neutrophilia, Splenomegaly	OMIM:162830
Immunodeficiency 27A	Anorexia, Anemia, Thrombocytosis, Lymphadenopathy, Leukocytosis, Hepatosplenomegaly, Splenomegaly...	OMIM:209950
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Microphthalmia, Hepatomegaly, Ectopic kidney, Cryptorchidism, Ventricular septal defect, Cystic r...	OMIM:613730
Alpha-Heavy Chain Disease	Hepatomegaly, Anemia, Lymphadenopathy, Hypocalcemia, Ascites, Splenomegaly	ORPHA:100025
Kerion Celsi	Lymphadenopathy	ORPHA:499
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Anemia, Lymphadenopathy, Hemophagocytosis, Thrombocytopenia, Hepatosplenome...	OMIM:613101
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Splenomegaly, Microcytic anemia	OMIM:618852
Fryns Microphthalmia Syndrome	Microphthalmia, Anophthalmia, Unicornuate uterus	OMIM:600776
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R...	ORPHA:251380
Congenital Rubella Syndrome	Microphthalmia, Jaundice, Anemia, Hepatomegaly, Aplasia/Hypoplasia of the iris, Type I diabetes m...	ORPHA:290
Microphthalmia, Isolated 4	Microphthalmia, Absent testis	OMIM:613094
Hyperbilirubinemia, Shunt, Primary	Jaundice, Hepatomegaly, Hyperbilirubinemia, Anemia of inadequate production, Reticulocytosis, Spl...	OMIM:237800
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Anorexia, Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:86893
Mu-Heavy Chain Disease	Hepatomegaly, Anemia, Lymphadenopathy, Bence Jones Proteinuria, Splenomegaly, Abnormal B cell cou...	ORPHA:100024
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Anemia, Azoospermia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Elevated he...	OMIM:615234
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Liver abscess, Abnormal lymph node morphology, Anemia, Elevated circulating C-reactive protein co...	ORPHA:54251
Alpha-Thalassemia	Anisopoikilocytosis, Hemoglobin Barts, Jaundice, Anemia, Cholelithiasis, Reticulocytosis, Pericar...	ORPHA:846
Autoimmune Lymphoproliferative Syndrome, Type Iii	Autoimmune hemolytic anemia, Stage 5 chronic kidney disease, Hepatomegaly, Mediastinal lymphadeno...	OMIM:615559
Hypereosinophilic Syndrome, Idiopathic	Endocardial fibrosis, Hepatomegaly, Restrictive cardiomyopathy, Myeloproliferative disorder, Sple...	OMIM:607685
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microphthalmia, Hepatomegaly	ORPHA:2432
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Microphthalmia, Hypospadias, Hypoplasia of penis, Anophthalmia, Ventricular septal defect, Crypto...	ORPHA:77298
Adenocarcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99976
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia	OMIM:206400
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Cirrhosis, Jaundice, Anemia, Hepatomegaly, Hypochromia, Elevated hepatic iron concentration, Anis...	OMIM:616860
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Hyperlipoproteinemia, Recurrent pancreatitis	OMIM:118830
Proteasome-Associated Autoinflammatory Syndrome 5	Hypertriglyceridemia, Hepatomegaly, Splenomegaly	OMIM:619175
Lymphoproliferative Syndrome 1	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopeni...	OMIM:613011
Biemond Syndrome Type 2	Delayed puberty, Microphthalmia, Hypospadias, Hypogonadism, Hypogonadotropic hypogonadism	ORPHA:141333
Triokinase And Fmn Cyclase Deficiency Syndrome	Microphthalmia, Hepatomegaly, Pancreatitis, Hypoalbuminemia, Dilated cardiomyopathy, Hepatic stea...	OMIM:618805
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Fluctuating splenomegaly, Lymphadenopathy, Neutropenia in presence o...	OMIM:619220
Premature Ovarian Failure 12	Microphthalmia, Primary amenorrhea	OMIM:616947
Congenital Fibrinogen Deficiency	Microphthalmia, Hemorrhagic ovarian cyst, Decreased testicular size, Splenic rupture, Right ventr...	ORPHA:335
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Motor stereotypy, Anophthalmia	ORPHA:411986
Fanconi Anemia, Complementation Group G	Microphthalmia, Anemia, Thrombocytopenia, Leukemia, Neutropenia	OMIM:614082
Immunodeficiency 52	Lymphadenopathy, Abnormal natural killer cell count, T lymphocytopenia, Splenomegaly, Abnormal B ...	OMIM:617514
Trimethylaminuria	Trimethylaminuria, Anemia, Splenomegaly, Neutropenia	OMIM:602079
Erythroleukemia, Familial, Susceptibility To	Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplas...	OMIM:133180
Dihydropyrimidine Dehydrogenase Deficiency	Hyperactivity, Microphthalmia, Uraciluria, Elevated urinary dihydrothymine level	OMIM:274270
Trisomy 1Q	Congenital megaureter, Anophthalmia, Ventricular septal defect, Hydronephrosis, Small scrotum, Am...	ORPHA:261344
Immunodeficiency 69	Increased circulating ferritin concentration, Anemia, Hemophagocytosis, Pancytopenia, Leukocytosi...	OMIM:618963
Cholestasis, Progressive Familial Intrahepatic, 12	Jaundice, Hepatomegaly, Increased serum bile acid concentration, Hyperbilirubinemia, Cholestasis,...	OMIM:620010
Microcephaly-Microcornea Syndrome, Seemanova Type	Microphthalmia, Hypogonadism	ORPHA:2528
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Enlarged kidney, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Leukopenia, Extramedullary...	OMIM:615285
Meckel Syndrome	Situs inversus totalis, Microphthalmia, Ureteral duplication, Multicystic kidney dysplasia, Acces...	ORPHA:564
Niemann-Pick Disease, Type B	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Sea-blue histiocytosis, Anemia, He...	OMIM:607616
Leishmaniasis	Anorexia, Hepatomegaly, Anemia, Lymphadenopathy, Pancytopenia, Abnormal macrophage morphology, Le...	ORPHA:507
Xk Aprosencephaly Syndrome	Atrial septal defect, Abnormal external genitalia, Ventricular septal defect, Microphthalmia	ORPHA:3469
Microphthalmia/Coloboma 6	Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Osteopetrosis, Autosomal Recessive 8	Hepatomegaly, Anemia, Unilateral microphthalmos, Thrombocytopenia, Splenomegaly	OMIM:615085
Adams-Oliver Syndrome 4	Atrial septal defect, Ventricular septal defect, Microphthalmia	OMIM:615297
Congenital Disorder Of Glycosylation, Type Ik	Hepatomegaly, Cardiomyopathy, Splenomegaly, Hypogonadism	OMIM:608540
Heme Oxygenase 1 Deficiency	Increased circulating ferritin concentration, Hepatomegaly, Hematuria, Lymphadenopathy, Elevated ...	OMIM:614034
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia	ORPHA:231401
Mast Cell Sarcoma	Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Splenomegaly	ORPHA:66661
Hereditary Amyloidosis With Primary Renal Involvement	Decreased HDL cholesterol concentration, Decreased glomerular filtration rate, Tubulointerstitial...	ORPHA:85450
Microphthalmia/Coloboma 4	Microphthalmia	OMIM:251505
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Pancytopenia	OMIM:183350
Beta-Thalassemia Intermedia	Proximal tubulopathy, Anemia of inadequate production, Splenomegaly, Hypogonadism, Decreased mean...	ORPHA:231222
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Thyroiditis...	OMIM:619375
Microphthalmia, Syndromic 5	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Cryptorchidism, Micropenis, Ectopic posteri...	OMIM:610125
Ziegler-Huang Syndrome	Macrocytic anemia, Anterior pituitary hypoplasia, Persistence of hemoglobin F, Bone marrow hypoce...	OMIM:620501
Cholestasis, Progressive Familial Intrahepatic, 10	Jaundice, Portal fibrosis, Hepatomegaly, Increased serum bile acid concentration, Increased total...	OMIM:619868
Granulomatous Slack Skin	Hypercalcemia, Acute kidney injury, Nephrocalcinosis, Abnormal lymph node morphology	ORPHA:33111
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased proportion of t...	OMIM:615513
Ras-Associated Autoimmune Leukoproliferative Disorder	Hepatomegaly, Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocyto...	OMIM:614470
Familial Papillary Or Follicular Thyroid Carcinoma	Abnormal lymph node morphology, Papillary thyroid carcinoma, Chronic noninfectious lymphadenopath...	ORPHA:319487
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Anemia, Pericarditis, Splenomegaly, Abnormal hemoglobin	ORPHA:163596
Anemia, Congenital Dyserythropoietic, Type Ib	Jaundice, Anemia, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Poikilocytosis,...	OMIM:615631
Immunodeficiency 64 With Lymphoproliferation	Autoimmune hemolytic anemia, Cervical lymphadenopathy, Mediastinal lymphadenopathy, Lymphadenopat...	OMIM:618534
Galactosemia Iii	Jaundice, Hepatomegaly, Galactosuria, Hypergalactosemia, Splenomegaly, Aminoaciduria	OMIM:230350
Immunodeficiency 76	Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Splenomegaly, Lymphopenia	OMIM:619164
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Mediastinal lymphadenopathy, Lymphadenopathy, Decreased proportion of CD4-positive helper T cells...	OMIM:300853
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Abnormal lymph node morphology, Anemia, Leukocytosis, Hepatosplenomegaly, Splenomeg...	OMIM:612840
Neonatal Severe Primary Hyperparathyroidism	Abnormal circulating calcium-phosphate regulating hormone concentration, Hepatomegaly, Splenomega...	ORPHA:417
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Neurooculocardiogenitourinary Syndrome	Microphthalmia, Patent foramen ovale, Bilateral cryptorchidism, Cardiomegaly, Atrial septal defec...	OMIM:618652
Dehydrated Hereditary Stomatocytosis	Macrocytic anemia, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Increased...	ORPHA:3202
Immunodeficiency 16	Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia	OMIM:615593
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Anorexia, Hepatomegaly, Anemia, Pancreatitis, Cardiomyopathy, Hyperammonemia, Thrombocytopenia, S...	ORPHA:79312
Kimura Disease	Follicular hyperplasia, Eosinophilia, Abnormal salivary gland morphology, Lymphadenopathy	ORPHA:482
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia	OMIM:251700
Immunodeficiency 103, Susceptibility To Fungal Infections	Lymphadenopathy, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cells,...	OMIM:212050
Hydrolethalus	Microphthalmia, Cryptorchidism, Abnormal fallopian tube morphology, Anophthalmia	ORPHA:2189
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Hypocholesterolemia, Hypersplenism	OMIM:610539
Red Cell Phospholipid Defect With Hemolysis	Hyperbilirubinemia, Intermittent jaundice, Splenomegaly, Reticulocytosis	OMIM:179700
Cockayne Syndrome Type 2	Anophthalmia, Hepatomegaly, Male hypogonadism, Cryptorchidism	ORPHA:90322
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Abnormal lymph node morphology, Papillary thyroid carcinoma, Chronic noninfectious lymphadenopath...	ORPHA:97290
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Cirrhosis, Hepatomegaly, Decreased circulating ceruloplasmin concentra...	OMIM:616828
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Genital ulcers, Hepatomegaly, Aplasia of the thymus, B lymphocytopenia, Eosinophilia, Lymph node ...	OMIM:602450
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia	OMIM:611038
Microphthalmia With Brain And Digit Anomalies	Abnormality of the hypothalamus-pituitary axis, Microphthalmia, Cryptorchidism, Anophthalmia	ORPHA:139471
Follicular Lymphoma	Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Abnormal peritoneum morphology	ORPHA:545
Primary Myelofibrosis	Anorexia, Hepatomegaly, Anemia, Thrombocytosis, Lymphadenopathy, Pancytopenia, Leukocytosis, Port...	ORPHA:824
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemi...	ORPHA:75564
Nanophthalmos	Microphthalmia	ORPHA:35612
Walker-Warburg Syndrome	Microphthalmia, Abnormal circulating creatine kinase concentration, Anophthalmia, Hypoplasia of p...	ORPHA:899
Symptomatic Form Of Hfe-Related Hemochromatosis	Cirrhosis, Hepatomegaly, Abnormality of iron homeostasis, Erectile dysfunction, Hepatocellular ca...	ORPHA:465508
Immunodeficiency With Hyper-Igm, Type 5	Epididymitis, Lymphadenopathy	OMIM:608106
Gracile Bone Dysplasia	Microphthalmia, Aniridia, Hypocalcemia, Ascites, Asplenia, Hypoplastic spleen, Micropenis	OMIM:602361
Lymphoproliferative Syndrome 3	Reduced natural killer cell count, Hepatosplenomegaly, Lymphadenopathy	OMIM:618261
Lymphoproliferative Syndrome, X-Linked, 1	Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Lymphocytosis, El...	OMIM:308240
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Anemia, Hypospadias, Hypoplasia of penis, Ascites, Abnormality of the ureter, Splenomegaly	ORPHA:1046
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Microgastria-Limb Reduction Defect Syndrome	Microphthalmia, Hepatomegaly, Rectovaginal fistula, Anophthalmia, Perineal fistula, Truncus arter...	ORPHA:2538
Harderoporphyria	Hepatomegaly, Increased urine harderoporphyrin level, Increased urinary porphobilinogen, Red urin...	OMIM:618892
Dehydrated Hereditary Stomatocytosis 2	Anisopoikilocytosis, Jaundice, Hepatomegaly, Increased mean corpuscular hemoglobin concentration,...	OMIM:616689
Immunodeficiency 115 With Autoinflammation	Intestinal lymphangiectasia, Anemia, Elevated circulating C-reactive protein concentration, Eleva...	OMIM:620632
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Incr...	OMIM:619924
Pyruvate Kinase Deficiency Of Red Cells	Chronic hemolytic anemia, Jaundice, Reduced red cell pyruvate kinase level, Cholelithiasis, Hepat...	OMIM:266200
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Hypertriglyceridemia, Increased circulating ferritin concentration, Anemia, Acute myeloid leukemi...	ORPHA:158057
Familial Cold Autoinflammatory Syndrome 2	Lymphadenopathy, Leukocytosis, Splenomegaly, Elevated circulating C-reactive protein concentration	OMIM:611762
Hypertriglyceridemia, Transient Infantile	Hypertriglyceridemia, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic steatosis	OMIM:614480
Anencephaly 2	Anophthalmia	OMIM:619452
Splenoportal Vascular Anomalies	Cirrhosis, Anomalous splenoportal venous system, Ascites, Hyperammonemia, Splenomegaly, Hepatic f...	OMIM:271500
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	Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Lymphadenopathy, Neutropenia i...	OMIM:603909
Cerebrooculonasal Syndrome	Anophthalmia, Hypoplasia of penis	ORPHA:66625
Desmoplastic Small Round Cell Tumor	Hepatomegaly, Anemia, Lymphadenopathy, Neoplasm of the pancreas, Abnormal peritoneum morphology, ...	ORPHA:83469
Dominant Beta-Thalassemia	Delayed puberty, Splenomegaly, Decreased mean corpuscular volume, Adrenal insufficiency, Jaundice...	ORPHA:231226
Immunodeficiency 109 With Lymphoproliferation	Hypertriglyceridemia, Pancytopenia, Splenomegaly, Generalized lymphadenopathy, Absent circulating...	OMIM:620282
Schnitzler Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Splenomegaly	ORPHA:37748
Cerebrooculofacioskeletal Syndrome 3	Microphthalmia	OMIM:616570
Rosaï-Dorfman Disease	Anemia, Lymphadenopathy	ORPHA:158014
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Jaundice, Normochromic anemia, Cholelithiasis, Hyperbilirubinemia, Nonspherocy...	OMIM:235700
Cockayne Syndrome Type 1	Hepatomegaly, Anemia, Anophthalmia, Cryptorchidism, Increased blood urea nitrogen, Proteinuria, M...	ORPHA:90321
Persistent Polyclonal B-Cell Lymphocytosis	Lymphocytosis, Hepatomegaly, Splenomegaly	OMIM:606445
Glut1 Deficiency Syndrome 2	Reduced haptoglobin level, Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:612126
Microphthalmia, Isolated 8	Optic nerve hypoplasia, Microphthalmia, True anophthalmia, Anophthalmia	OMIM:615113
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Beta-Thalassemia Major	Delayed puberty, Anemia of inadequate production, Splenomegaly, Decreased mean corpuscular volume...	ORPHA:231214
Cofs Syndrome	Microphthalmia, Hypogonadism	ORPHA:1466
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Microphthalmia, Unilateral renal agenesis, Patent foramen ovale, Ventricular septal defect, Renal...	OMIM:618494
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
Nanophthalmos 4	Microphthalmia	OMIM:615972
Tafro Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Leu...	ORPHA:457077
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia, External genital hypoplasia, Hypogonadism, Cryptorchidism	ORPHA:363741
Cyanosis, Transient Neonatal	Jaundice, Anemia, Hepatomegaly, Reticulocytosis, Methemoglobinemia	OMIM:613977
Anemia, Congenital Dyserythropoietic, Type Ii	Jaundice, Cholelithiasis, Anemia of inadequate production, Reticulocytosis, Splenomegaly	OMIM:224100
Tyrosinemia Type 1	Splenomegaly, Hepatomegaly, Hepatocellular carcinoma, Generalized aminoaciduria	ORPHA:882
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Microphthalmia, Cardiomyopathy, Elevated circulating creatine kinase concentration	OMIM:613155
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Jaundice, Hemophagoc...	OMIM:267700
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Agitation, Macrocytic anemia, Increased serum pyruvate, Cardiomyopathy, Hyperalaninemia, Splenome...	OMIM:619046
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Neutropenia in presence of ant...	OMIM:601859
Wolfram Syndrome 1	Hydroureter, Diabetes insipidus, Megaloblastic anemia, Neurogenic bladder, Cardiomyopathy, Hypoth...	OMIM:222300
Castleman Disease	Jaundice, Mediastinal lymphadenopathy, Anemia, Lymphadenopathy, Hematuria, Elevated circulating C...	ORPHA:160
Fanconi Anemia, Complementation Group F	Decreased response to growth hormone stimulation test, Microphthalmia, Anemia, Pelvic kidney, Ves...	OMIM:603467
Isolated Follicle Stimulating Hormone Deficiency	Delayed puberty, Azoospermia, Decreased female libido, Oligozoospermia, Testicular atrophy, Delay...	ORPHA:52901
Immune Dysregulation, Autoimmunity, And Autoinflammation	Abnormal circulating C-reactive protein concentration, Anemia, Cervical lymphadenopathy, Inguinal...	OMIM:620514
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Lymphadenopathy, Decreased proportion of class-switched memory B cells, Lymphopenia, Decreased pr...	OMIM:619846
Lipodystrophy, Congenital Generalized, Type 3	Hypertriglyceridemia, Hepatomegaly, Hypercholesterolemia, Hypocalcemia, Hepatosplenomegaly, Splen...	OMIM:612526
Griscelli Syndrome Type 2	Jaundice, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Hyperlipidemia, Splenome...	ORPHA:79477
Cinca Syndrome	Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Leukocytosis, Hep...	OMIM:607115
Rere-Related Neurodevelopmental Syndrome	Microphthalmia, Hypospadias, Vesicoureteral reflux, Ventricular septal defect, Abnormal heart mor...	ORPHA:494344
Bile Acid Synthesis Defect, Congenital, 5	Jaundice, Portal fibrosis, Iron deficiency anemia, Hepatomegaly, Increased serum bile acid concen...	OMIM:616278
Immunodeficiency 54	Hepatomegaly, Lymphadenopathy, Adrenocorticotropic hormone excess, Splenomegaly, Reduced natural ...	OMIM:609981
Fanconi Anemia, Complementation Group I	Decreased response to growth hormone stimulation test, Microphthalmia, Optic nerve hypoplasia, Pa...	OMIM:609053
Holoprosencephaly	Microphthalmia, Anterior hypopituitarism, Hypoplasia of penis, Anophthalmia, Diabetes insipidus, ...	ORPHA:2162
Gray Platelet Syndrome	Thrombocytopenia, Splenomegaly, Abnormality of the menstrual cycle	ORPHA:721
Microphthalmia With Limb Anomalies	Microphthalmia, Anophthalmia, Unilateral cryptorchidism	OMIM:206920
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Elevated urinary inosine level, Hypouricemia, Neutropenia in presenc...	OMIM:613179
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Testicular atrophy, Decreased fertility, Dysphagia, Elevated circulating creatine kinase concentr...	OMIM:313200
Microphthalmia, Syndromic 3	Microphthalmia, Hypospadias, Anophthalmia, Optic nerve hypoplasia, Anterior pituitary hypoplasia,...	OMIM:206900
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Hypertriglyceridemia, Increased circulating ferritin concentration, ...	OMIM:619802
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Pericarditi...	ORPHA:85414
Hurler-Scheie Syndrome	Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Cardiomyopathy, Spleno...	ORPHA:93476
Macrophage Activation Syndrome	Hypertriglyceridemia, Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell count,...	ORPHA:158061
Adult-Onset Still Disease	Myocarditis, Abnormal circulating lipid concentration, Increased circulating ferritin concentrati...	ORPHA:829
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Hyperactivity, Asymmetric septal hypertrophy, Splenomegaly, Cardiomegaly, Heparan s...	OMIM:252920
Cold Agglutinin Disease	Hepatomegaly, Lymphadenopathy, Splenomegaly, Abnormal urinary color, Hemolytic anemia	ORPHA:56425
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Immunodeficiency, Common Variable, 2	Hepatomegaly, Lymphadenopathy, Abnormal T cell count, Splenomegaly, Follicular hyperplasia	OMIM:240500
Indolent Systemic Mastocytosis	Hepatomegaly, Increased proportion of CD25+ mast cells, Lymphadenopathy, Mastocytosis, Splenomega...	ORPHA:98848
Pfapa Syndrome	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:42642
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Lymphadenopathy	OMIM:617772
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Microphthalmia, Patent foramen ovale, Impulsivity, Pulmonic stenosis, Renal hypoplasia, Motor ste...	OMIM:618914
Hypogonadism, Male	Testicular atrophy, Male hypogonadism, Micropenis, Hypospadias	OMIM:241100
Classic Hodgkin Lymphoma	Anorexia, Hepatomegaly, Lymphadenopathy, Bone marrow hypocellularity, Splenomegaly	ORPHA:391
Fanconi Anemia, Complementation Group E	Microphthalmia, Anemia, Ectopic kidney, Pancytopenia, Reticulocytopenia, Hypergonadotropic hypogo...	OMIM:600901
Lymphoproliferative Syndrome, X-Linked, 2	Aplastic anemia, Hypertriglyceridemia, Hepatomegaly, Hemophagocytosis, Pancytopenia, Splenomegaly...	OMIM:300635
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Lymphadenopathy, Elevated circulating C-reactive protein concentration, Hypothyroidism, Hepatospl...	OMIM:619750
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Decreased CD4:CD8 ratio	OMIM:618495
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Fetal ascites, Hepatomegaly, Splenomegaly	OMIM:619462
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Abnormal fallopian tube morphology, Abnormally large globe, Hypocalcemia, Pancreati...	ORPHA:1655
Sea-Blue Histiocyte Disease	Cirrhosis, Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly	OMIM:269600
Sickle Cell Anemia	Jaundice, Chronic hemolytic anemia, Iron deficiency anemia, Cholelithiasis, Increased mean corpus...	ORPHA:232
Fanconi Anemia, Complementation Group A	Microphthalmia, Male infertility, Anemia, Ectopic kidney, Pancytopenia, Reticulocytopenia, Hyperg...	OMIM:227650
Immunodeficiency 91 And Hyperinflammation	Hepatomegaly, Hemolytic-uremic syndrome, Hemophagocytosis, Lymphadenopathy, Elevated circulating ...	OMIM:619644
Inverted Duplicated Chromosome 15 Syndrome	Gonadal dysgenesis, Unilateral renal agenesis, Hyperactivity, Ventricular septal defect, Precocio...	ORPHA:3306
Pierpont Syndrome	Microphthalmia, Cryptorchidism, Micropenis	OMIM:602342
Classic Mycosis Fungoides	Lymphadenopathy, Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly	ORPHA:2584
Aggressive Systemic Mastocytosis	Anorexia, Anemia, Lymphadenopathy, Increased proportion of CD25+ mast cells, Pancytopenia, Leukoc...	ORPHA:98850
Warburg Micro Syndrome 1	Microphthalmia, External genital hypoplasia, Cryptorchidism	OMIM:600118
Roifman Syndrome	Lymphadenopathy, Noncompaction cardiomyopathy, Hepatosplenomegaly, Eosinophilia, Hypogonadotropic...	ORPHA:353298
Lymphoproliferative Syndrome 2	Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Ascites, Hepatosp...	OMIM:615122
Fanconi Anemia, Complementation Group J	Bone marrow hypocellularity, Microphthalmia	OMIM:609054
X-Linked Sideroblastic Anemia	Abnormality of iron homeostasis, Anemia, Splenomegaly	ORPHA:75563
Sickle Cell Disease	Jaundice, Hepatomegaly, Hematuria, Cholelithiasis, Splenic infarction, Leukocytosis, Target cells...	OMIM:603903
Legionnaires Disease	Anorexia, Myocarditis, Jaundice, Pancreatitis, Lymphadenopathy, Hematuria, Renal insufficiency, B...	ORPHA:549
Delta-Beta-Thalassemia	Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231237
Joubert Syndrome 37	Microphthalmia, Hepatomegaly, Decreased testicular size, Hydronephrosis, Cryptorchidism, Micropenis	OMIM:619185
Pierpont Syndrome	Microphthalmia, Cryptorchidism	ORPHA:487825
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol...	OMIM:300946
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Jaundice, Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration, Cholestasis, ...	OMIM:619658
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoproteinemia, Hypoplasia of the thym...	OMIM:603554
Rhabdoid Tumor	Hematuria, Anemia, Lymphadenopathy, Thrombocytopenia, Hypercalcemia, Neoplasm of the liver	ORPHA:69077
Immunodeficiency 7	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Hypereosinophilia, Neut...	OMIM:615387
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Absence of lymph node germinal center, Autoimmune thrombocytopenia	OMIM:608184
Fish-Eye Disease	Splenomegaly, Hepatomegaly, Lymphadenopathy, Decreased HDL cholesterol concentration	ORPHA:79292
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morpholog...	ORPHA:100026
Charge Syndrome	Delayed puberty, Microphthalmia, Self-mutilation, Pulmonic stenosis, Dysphagia, Dysplastic tricus...	OMIM:214800
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Jaundice, Hepatomegaly, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Incr...	OMIM:194380
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Lymphadenopathy, B lymphocytopenia, Splenomegaly, Intermittent thrombocytopenia, Abnormal CD4:CD8...	OMIM:150550
Solitary Median Maxillary Central Incisor	Decreased response to growth hormone stimulation test, Microphthalmia, Anterior hypopituitarism, ...	OMIM:147250
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Microphthalmia, Cryptorchidism, Hypogonadism	OMIM:601794
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Microphthalmia, Ventricular septal defect, Leukemia	OMIM:602501
Immunodeficiency, Common Variable, 1	Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, B lymphocyt...	OMIM:607594
Anemia, Congenital Dyserythropoietic, Type Ia	Hepatomegaly, Hyperbilirubinemia, Macrocytic dyserythropoietic anemia, Anemia of inadequate produ...	OMIM:224120
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Hyperlipidemia, Neonatal cholestatic liver disease, Splenomega...	OMIM:214900
Mosaic Trisomy 9	Hypoplastic female external genitalia, Microphthalmia, Abnormal liver lobulation, Abnormal fallop...	ORPHA:99776
Caspase 8 Deficiency	Splenomegaly, Decreased CD4:CD8 ratio, Lymphadenopathy	OMIM:607271
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Jaundice, Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Prol...	OMIM:300908
Oculogastrointestinal Neurodevelopmental Syndrome	Bilateral microphthalmos, Vaginal fistula, Unilateral microphthalmos, Bicuspid aortic valve, Hors...	OMIM:619318
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Agitation, Bilateral microphthalmos, Hyperactivity, Patent foramen ovale, Ventricular septal defe...	ORPHA:369891
Pleural Mesothelioma	Hepatomegaly, Lymphadenopathy, Dysphagia	ORPHA:50251
Hyperlysinemia, Type I	Argininuria, Anemia, Hyperactivity, Optic nerve hypoplasia, Hyperlysinemia, Ornithinuria, Hypoorn...	OMIM:238700
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Ambiguous genitalia, Microphthalmia, Ventricular septal defect	ORPHA:93267
Microphthalmia/Coloboma 7	Microphthalmia	OMIM:614497
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Microphthalmia, Hepatomegaly, Hypertrophic cardiomyopathy, Renal hypoplasia, Ketonuria	OMIM:619053
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatomegaly, Anemia, Lymphadenopathy, Vesicoureteral reflux, Cholestasis, Leukocytosis, Lymphade...	OMIM:615895
Bresek Syndrome	Microphthalmia, Optic nerve hypoplasia, Vesicoureteral reflux, Decreased testicular size, Renal h...	ORPHA:85284
Immunodeficiency With Hyper-Igm, Type 3	Absence of lymph node germinal center, Neutropenia	OMIM:606843
Foveal Hypoplasia 2	Microphthalmia, Hypoplasia of the fovea	OMIM:609218
Subaortic Stenosis-Short Stature Syndrome	Abnormal circulating lipid concentration, Microphthalmia, Membranous subvalvular aortic stenosis,...	ORPHA:3191
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Microphthalmia, External genital hypoplasia, Hypoplasia of penis, Anophthalmia, Hypogonadism, Cry...	ORPHA:2250
Roifman Syndrome	Hepatomegaly, Lymphadenopathy, Noncompaction cardiomyopathy, Splenomegaly, Eosinophilia, Ventricu...	OMIM:616651
Alpha-1-Antitrypsin Deficiency	Reduced circulating alpha-1-antitrypsin concentration, Cirrhosis, Hepatocellular carcinoma, Splen...	OMIM:613490
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Linear Skin Defects With Multiple Congenital Anomalies 2	Atrial septal defect, Ventricular hypertrophy, Tetralogy of Fallot, Microphthalmia	OMIM:300887
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Acute myelomonocytic leukemia, Hypopl...	ORPHA:2585
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hypertriglyceridemia, Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Pancytopenia, Lymphadenop...	OMIM:603553
Erythrocytosis, Familial, 8	Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo...	OMIM:222800
Fanconi Anemia, Complementation Group C	Microphthalmia, Anemia, Ectopic kidney, Pancytopenia, Reticulocytopenia, Ventricular septal defec...	OMIM:227645
Cholesteryl Ester Storage Disease	Hypertriglyceridemia, Cirrhosis, Jaundice, Hepatomegaly, Splenomegaly, Adrenal calcification, Hyp...	ORPHA:75234
Activated Pi3K-Delta Syndrome	Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, B lymphocytopenia, Splenomegaly	ORPHA:397596
Microphthalmia, Syndromic 8	Microphthalmia, Cryptorchidism	OMIM:601349
Mcleod Syndrome	Hepatomegaly, Reduced haptoglobin level, Cardiomyopathy, Compulsive behaviors, Elevated circulati...	OMIM:300842
Developmental And Epileptic Encephalopathy 1	Microphthalmia, Micropenis, Dysphagia	OMIM:308350
Griscelli Syndrome	Abnormal circulating lipid concentration, Jaundice, Hepatomegaly, Lymphadenopathy, Ascites, Bone ...	ORPHA:381
Anophthalmia Plus Syndrome	Anophthalmia	ORPHA:1104
Thrombocytopenia With Beta-Thalassemia, X-Linked	Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni...	OMIM:314050
Fragile X Syndrome	Congenital macroorchidism, Hyperactivity, Macroorchidism, postpubertal, Recurrent hand flapping, ...	OMIM:300624
Microphthalmia/Coloboma 3	Microphthalmia	OMIM:610092
Tularemia	Cervical lymphadenopathy, Anemia, Lymphadenopathy, Mediastinal lymphadenopathy, Leukocytosis, Thr...	ORPHA:3392
Fanconi Anemia, Complementation Group D2	Annular pancreas, Microphthalmia, Anemia, Ectopic kidney, Pancytopenia, Pelvic kidney, Reticulocy...	OMIM:227646
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Abnormality of the lymphatic system, Hyperlipidemia, Portal hy...	ORPHA:1414
Immunodeficiency 42	Splenomegaly, Hepatomegaly, Hypoplasia of the thymus	OMIM:616622
Thymic Neuroendocrine Tumor	Neoplasm of the endocrine system, Mediastinal lymphadenopathy, Pancreatic islet cell adenoma, Neo...	ORPHA:97289
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Thyroiditis, Abnormal lymphocyte morphology, Leukocytosis,...	ORPHA:39041
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Microphthalmia, Decreased pineal volume, Focal segmental glomerulosclerosis, Nephrotic syndrome, ...	OMIM:301108
Amyloidosis, Familial Visceral	Hepatomegaly, Hematuria, Cholestasis, Nephrotic syndrome, Splenomegaly, Proteinuria, Nephropathy	OMIM:105200
Autoinflammation With Infantile Enterocolitis	Increased circulating ferritin concentration, Anemia, Elevated circulating C-reactive protein con...	OMIM:616050
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Microphthalmia	OMIM:616171
Hepatoportal Sclerosis	Abnormal liver parenchyma morphology, Jaundice, Anemia, Periportal fibrosis, Hyperbilirubinemia, ...	ORPHA:64743
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Microphthalmia, Hematuria	OMIM:120433
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, B lymphocytopenia, ...	OMIM:301078
Xeroderma Pigmentosum, Complementation Group G	Microphthalmia	OMIM:278780
Deafness-Lymphedema-Leukemia Syndrome	Acute leukemia, Hepatomegaly, Lymphadenopathy, Abnormal neutrophil count, Myeloproliferative diso...	ORPHA:3226
Spherocytosis, Type 1	Jaundice, Cholelithiasis, Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Hemol...	OMIM:182900
Microphthalmia, Isolated 6	Microphthalmia	OMIM:613517
Methemoglobinemia And Ambiguous Genitalia	Hypospadias, Scrotal hypospadias, Bifid scrotum, Male pseudohermaphroditism, Decreased circulatin...	OMIM:250790
Immunodeficiency 10	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Abnormal lymphocyte count, Hypoplasia...	OMIM:612783
Combined Immunodeficiency Due To Zap70 Deficiency	Autoimmune hemolytic anemia, Abnormal lymph node morphology, Lymphadenopathy, Decreased proportio...	ORPHA:911
2Q24 Microdeletion Syndrome	Microphthalmia	ORPHA:1617
Immunodeficiency 84	B lymphocytopenia, Splenomegaly	OMIM:619437
Microcephaly 20, Primary, Autosomal Recessive	Microphthalmia, Optic nerve hypoplasia, Renal hypoplasia, Ureteral agenesis, Vaginal atresia, Att...	OMIM:617914
Cholesteryl Ester Storage Disease	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Leukopenia, Splenomegaly, Hepatic ...	OMIM:278000
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Abnormally low T cell receptor excision circle level, B lymphocytopenia, Cervical lymphadenopathy	OMIM:618987
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Microphthalmia, Elevated circulating creatine kinase concentration, Left ventricular hypertrophy	OMIM:613153
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	B lymphocytopenia, T lymphocytopenia, Absence of lymph node germinal center, Lymphopenia, Absent ...	ORPHA:277
Nephronophthisis 19	Hepatomegaly, Nephronophthisis, Cholestasis, Bile duct proliferation, Splenomegaly, Hepatic fibro...	OMIM:616217
Microphthalmia With Linear Skin Defects Syndrome	Epispadias, Clitoral hypertrophy, Tricuspid valve prolapse, Microphthalmia, Hypospadias, Abnormal...	ORPHA:2556
Hereditary Spherocytosis	Jaundice, Hepatomegaly, Anemia, Cholelithiasis, Spontaneous hemolytic crises, Increased mean corp...	ORPHA:822
Overhydrated Hereditary Stomatocytosis	Decreased mean corpuscular hemoglobin concentration, Intermittent jaundice, Reticulocytosis, Abno...	ORPHA:3203
Gaucher Disease Type 1	Delayed puberty, Decreased HDL cholesterol concentration, Ascites, Leukopenia, Splenomegaly, Anor...	ORPHA:77259
Thyroid Lymphoma	Lymphadenopathy, Hypothyroidism, Hashimoto thyroiditis, Dysphagia, Hyperthyroidism, Goiter	ORPHA:97285
Joubert Syndrome 21	Renal cyst, Splenomegaly, Dysphagia, Anophthalmia	OMIM:615636
Fraser Syndrome 1	Clitoral hypertrophy, Bilateral microphthalmos, Hypospadias, Anophthalmia, Bicornuate uterus, Ren...	OMIM:219000
Adams-Oliver Syndrome 6	Truncus arteriosus, Portal hypertension, Renal hypoplasia, Splenomegaly, Hepatic fibrosis, Ventri...	OMIM:616589
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Lymphadenopathy, Recurrent tonsillitis, Acute pancreatitis, Lymphadenitis, Nephrotic syndrome, He...	OMIM:618935
Diamond-Blackfan Anemia 6	Macrocytic anemia, Increased mean corpuscular volume, Ventricular hypertrophy, Persistence of hem...	OMIM:612561
Kennedy Disease	Abnormal circulating lipid concentration, Erectile dysfunction, Type II diabetes mellitus, Decrea...	ORPHA:481
Glycogen Storage Disease Xii	Delayed puberty, Normocytic anemia, Jaundice, Hepatomegaly, Decreased erythrocyte fructose-1,6-bi...	OMIM:611881
Transaldolase Deficiency	Atrial septal defect, Cirrhosis, Hepatomegaly, Anemia, Clitoral hypertrophy, Pancytopenia, Patent...	OMIM:606003
Neuraminidase Deficiency	Hepatomegaly, Vacuolated lymphocytes, Bone-marrow foam cells, Cardiomyopathy, Ascites, Urinary ex...	OMIM:256550
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Anemia, Lymphadenopathy, Decreased FOXP3-expressing T cell count, Hypothyroidism, Type I diabetes...	OMIM:304790
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Microphthalmia, Compulsive behaviors, Cryptorchidism, Abnormal heart morphology, Attention defici...	ORPHA:404440
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Tricuspid valve prolapse, Cryptorchidism, Aniridia, Anophthalmia	ORPHA:1101
Refsum Disease	Cardiomyopathy, Microphthalmia, Renal insufficiency, Splenomegaly	ORPHA:773
14Q22Q23 Microdeletion Syndrome	Anophthalmia, Diabetes insipidus, Anterior pituitary hypoplasia, Adrenal hypoplasia, Abnormality ...	ORPHA:264200
Spherocytosis, Type 5	Jaundice, Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia...	OMIM:612690
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia, Hypogonadotropic hypogonadism	ORPHA:1135
Acute Monoblastic/Monocytic Leukemia	Anorexia, Anemia, Lymphocytosis, Acute monocytic leukemia, Leukocytosis, Central hypothyroidism, ...	ORPHA:514
Immunodeficiency With Hyper-Igm, Type 2	Lymphadenopathy	OMIM:605258
Niemann-Pick Disease, Type A	Sea-blue histiocytosis, Hepatomegaly, Lymphadenopathy, Bone-marrow foam cells, Ascites, Prolonged...	OMIM:257200
Lig4 Syndrome	Acute leukemia, Hepatomegaly, Lymphadenopathy, Pancytopenia, Hypoplasia of penis, Leukocytosis, H...	ORPHA:99812
Cinca Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Leu...	ORPHA:1451
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Delayed puberty, Hepatocellular adenoma, Portal fibrosis, Myoglobinuria, Ch...	ORPHA:264580
Charge Syndrome	Delayed puberty, Microphthalmia, Abnormal aortic valve morphology, Abnormality of the adrenal gla...	ORPHA:138
Familial Hemophagocytic Lymphohistiocytosis	Cholestatic liver disease, Hypertriglyceridemia, Jaundice, Hepatomegaly, Hemophagocytosis, Anemia...	ORPHA:540
Immunodeficiency 32B	Hepatomegaly, Anemia, Monocytopenia, Neutrophilia, Thrombocytopenia, Splenomegaly, Hypoalbuminemi...	OMIM:226990
Spherocytosis, Type 2	Jaundice, Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemol...	OMIM:616649
17Q12 Microduplication Syndrome	Self-injurious behavior, Atrial septal defect, Microphthalmia	ORPHA:261272
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Microphthalmia, Hypogonadotropic hypogonadism	ORPHA:48431
Idiopathic Uveal Effusion Syndrome	Microphthalmia	ORPHA:209956
Chromosome 15Q25 Deletion Syndrome	Dextrocardia, Macrocytic anemia, Hyperactivity, Dilatation of renal calices, Coronary artery fist...	OMIM:614294
Histiocytosis-Lymphadenopathy Plus Syndrome	Decreased response to growth hormone stimulation test, Hepatomegaly, Lymphadenopathy, Azoospermia...	OMIM:602782
Pparg-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Pancreatitis, Maternal diabetes, Hyperuricemia, Se...	ORPHA:79083
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Microphthalmia, Hydroureter, Hypoplasia of penis	ORPHA:2547
Cat-Eye Syndrome	Microphthalmia, Hydronephrosis	ORPHA:195
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hepatomegaly, Lymphadenopathy, Hypoplasia of the iris, Thrombocytopenia, Splenomegaly, Hemolytic ...	ORPHA:169090
Osteopetrosis, Autosomal Dominant 3	Hepatomegaly, Anemia, Splenomegaly, Hyperparathyroidism	OMIM:618107
Nephroblastoma	Neoplasm of the liver, Hematuria, Lymphadenopathy, Aniridia	ORPHA:654
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Precocious puberty, Microphthalmia, Hypospadias, Anophthalmia	OMIM:615877
Poems Syndrome	Hepatomegaly, Erectile dysfunction, Lymphadenopathy, Abnormality of the endocrine system, Viscero...	ORPHA:2905
Spherocytosis, Type 4	Jaundice, Hyperbilirubinemia, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:612653
Felty Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Bone marrow hypocellularit...	ORPHA:47612
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Splenomegaly, Portal hypertension	OMIM:610293
Fanconi Anemia, Complementation Group R	Bone marrow hypocellularity, Microphthalmia, Pelvic kidney, Anemia	OMIM:617244
Cryohydrocytosis	Reticulocytosis, Splenomegaly, Stomatocytosis, Hemolytic anemia, Pseudohyperkalemia	OMIM:185020
Facial Clefting, Oblique, 1	Microphthalmia	OMIM:600251
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Jaundice, Hepatomegaly, Decreased proportion of CD3-positive T cells, Decreased proportion of nai...	ORPHA:276
Medullary Thyroid Carcinoma	Abnormal liver parenchyma morphology, Lymphadenopathy, Pheochromocytoma, Primary hyperparathyroid...	ORPHA:1332
Lissencephaly 8	Microphthalmia, Elevated circulating creatine kinase concentration	OMIM:617255
Acute Promyelocytic Leukemia	Anorexia, Anemia, Lymphadenopathy, Hematuria, Pancytopenia, Leukocytosis, Addictive alcohol use, ...	ORPHA:520
Mevalonic Aciduria	Fluctuating splenomegaly, Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concen...	OMIM:610377
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Unilateral renal agenesis, Azoospermia, Decreased circulating follicle stimulating hormone concen...	OMIM:308700
Cataract 9, Multiple Types	Microphthalmia	OMIM:604219
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia	OMIM:614830
Hypocomplementemic Urticarial Vasculitis	Hepatomegaly, Hematuria, Lymphadenopathy, Abnormal heart valve morphology, Ascites, Pericardial e...	ORPHA:36412
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Optic nerve hypoplasia, Microphthalmia, Elevated circulating creatine kinase concentration	OMIM:615181
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Vaginal atresia, Anophthalmia	OMIM:248450
Polycythemia Vera	Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro...	OMIM:263300
Bone Marrow Failure Syndrome 6	Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Hypothyroidism, Bone marr...	OMIM:618849
American Trypanosomiasis	Myocarditis, Hepatomegaly, Lymphadenopathy, Cardiomyopathy, Splenomegaly	ORPHA:3386
Lymphatic Filariasis	Lymphangiectasis, Hematuria, Lymphadenopathy, Urethral obstruction, Abnormality of the lymphatic ...	ORPHA:2035
Congenital Varicella Syndrome	Microphthalmia	ORPHA:291
Fibular Hemimelia	Abnormal heart morphology, Thrombocytopenia, Anophthalmia	ORPHA:93323
Neonatal Lupus Erythematosus	Aplastic anemia, Hepatomegaly, Anemia, Pancytopenia, Abnormal heart morphology, Thrombocytopenia,...	ORPHA:398124
Tangier Disease	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Decreased circulatin...	OMIM:205400
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia	OMIM:615771
Proteasome-Associated Autoinflammatory Syndrome 2	Lymphadenopathy, Elevated circulating C-reactive protein concentration, B lymphocytopenia, Thromb...	OMIM:618048
Dyskeratosis Congenita, Autosomal Recessive 2	Cirrhosis, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Testicular atrophy	OMIM:613987
Glycogen Storage Disease Ixb	Hyperuricemia, Hepatomegaly, Splenomegaly, Increased hepatic glycogen content	OMIM:261750
Sea-Blue Histiocytosis	Sea-blue histiocytosis, Mediastinal lymphadenopathy, Hepatomegaly, Thrombocytopenia, Splenomegaly	ORPHA:158029
Q Fever	Anorexia, Myocarditis, Hepatomegaly, Anemia, Lymphadenopathy, Hematuria, Abnormal heart valve mor...	ORPHA:781
Microphthalmia, Isolated 5	Microphthalmia	OMIM:611040
Glycogen Storage Disease Ixa1	Hypertriglyceridemia, Hepatomegaly, Hyperuricemia, Splenomegaly, Hypercholesterolemia	OMIM:306000
Cholestasis, Progressive Familial Intrahepatic, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Portal fibrosis, Hepatomegaly, Increased serum bil...	OMIM:602347
Renal-Hepatic-Pancreatic Dysplasia 1	Enlarged kidney, Hyperechogenic pancreas, Cholestasis, Biliary cirrhosis, Aortic valve stenosis, ...	OMIM:208540
Vacterl With Hydrocephalus	Microphthalmia, Cryptorchidism, Abnormal fallopian tube morphology, Anophthalmia	ORPHA:3412
Lead Poisoning	Abnormal T cell morphology, Anorexia, Decreased HDL cholesterol concentration, Delayed puberty, A...	ORPHA:330015
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Atrial septal defect, Microphthalmia, Anemia, Accessory spleen, Patent foramen ovale, Portal hype...	OMIM:620005
Scrub Typhus	Myocarditis, Lymphadenopathy, Renal insufficiency, Splenomegaly	ORPHA:83317
Congenital Pulmonary Lymphangiectasia	Hepatomegaly, Chylopericardium, Ascites, Pulmonic stenosis, Splenomegaly	ORPHA:2414
Microphthalmia, Syndromic 13	Microphthalmia	OMIM:300915
Spermatogenic Failure, X-Linked, 2	Male infertility, Spermatogenesis maturation arrest, Testicular atrophy, Azoospermia	OMIM:309120
Wilson Disease	Cirrhosis, Jaundice, Hepatomegaly, Anemia, Acute hepatitis, Hepatitis, Thrombocytopenia, Splenome...	ORPHA:905
Baraitser-Winter Syndrome 1	Microphthalmia, Aortic valve stenosis, Bicuspid aortic valve, Cryptorchidism, Micropenis	OMIM:243310
Meacham Syndrome	Hydrometrocolpos, Situs inversus totalis, Transposition of the great arteries, Abnormal fallopian...	ORPHA:3097
Kaposiform Lymphangiomatosis	Enlarged kidney, Anemia, Abnormality of the lymphatic system, Abnormal spleen morphology, Abnorma...	ORPHA:464329
Pseudomyxoma Peritonei	Ascites, Lymphadenopathy, Abnormal peritoneum morphology	ORPHA:26790
Bone Marrow Failure Syndrome 5	Anemia, Erythroid hypoplasia, Pure red cell aplasia, Hypogonadism, Testicular atrophy	OMIM:618165
Encephalocraniocutaneous Lipomatosis	Microphthalmia, Pelvic kidney, Ventricular septal defect, Hypoplasia of the iris, Hydronephrosis,...	OMIM:613001
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Microphthalmia, Multiple bladder diverticula, Proteinuria, Small scrotum, Atrial septal defect, C...	ORPHA:2728
Moebius Syndrome	Microphthalmia, Decreased testicular size, Dysphagia, Micropenis, Hypogonadotropic hypogonadism	OMIM:157900
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Microphthalmia	OMIM:610023
Immunodeficiency 32A	Lymphadenitis, Lymphadenopathy	OMIM:614893
Microphthalmia, Syndromic 2	Microphthalmia, Hypospadias, Dextrocardia, Anophthalmia, Ventricular septal defect, Pulmonic sten...	OMIM:300166
Hereditary Elliptocytosis	Jaundice, Cholelithiasis, Hyperbilirubinemia, Reticulocytosis, Poikilocytosis, Prolonged neonatal...	ORPHA:288
Overhydrated Hereditary Stomatocytosis	Jaundice, Hepatomegaly, Increased mean corpuscular volume, Hyperbilirubinemia, Reticulocytosis, P...	OMIM:185000
Pseudotrisomy 13 Syndrome	Microphthalmia, Tricuspid atresia, Dextrocardia, Adrenal hypoplasia, Ventricular septal defect, B...	OMIM:264480
Mucopolysaccharidosis, Type Iiia	Hepatomegaly, Hyperactivity, Asymmetric septal hypertrophy, Splenomegaly, Heparan sulfate excreti...	OMIM:252900
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Hypertriglyceridemia, Anemia, Hemophagocytosis, Pancytopenia, Splenomegaly, Increased circulating...	OMIM:618398
Fanconi Anemia, Complementation Group S	Ovarian carcinoma, Ovarian neoplasm, Microphthalmia, Anemia	OMIM:617883
Ornithine Transcarbamylase Deficiency	Aminoaciduria, Splenomegaly, Hyperammonemia	ORPHA:664
Agammaglobulinemia, X-Linked	Prostatitis, Anemia, B lymphocytopenia, Hepatocellular carcinoma, Enteroviral hepatitis, T lympho...	OMIM:300755
8P11.2 Deletion Syndrome	Hypoplasia of penis, Azoospermia, Spherocytosis, Abnormality of the hypothalamus-pituitary axis, ...	ORPHA:251066
Joubert Syndrome 22	Renal hypoplasia, Microphthalmia	OMIM:615665
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Hypocalcemia, Pancreatic lymphangiectasis, Ventricular septal defect, Hypoproteinem...	OMIM:235255
H Syndrome	Hypertriglyceridemia, Delayed puberty, Enlarged kidney, Lymphadenopathy, Azoospermia, Decreased t...	ORPHA:168569
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia	OMIM:267760
Kikuchi-Fujimoto Disease	Anorexia, Myocarditis, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymph node morphology, Ele...	ORPHA:50918
Craniotelencephalic Dysplasia	Microphthalmia, Septo-optic dysplasia	ORPHA:1528
Sitosterolemia 1	Chronic hemolytic anemia, Giant platelets, Anemia, Reduced haptoglobin level, Elevated circulatin...	OMIM:210250
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Jaundice, Cholelithiasis, Spontaneous hemolytic crises, Nonspherocytic hemolytic anemia, Impaired...	OMIM:613470
Meckel Syndrome, Type 4	Microphthalmia, Renal cyst, Bile duct proliferation, Atrial septal defect, Ventricular septal defect	OMIM:611134
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Splenomegaly, Portal hypertension	OMIM:617068
Chediak-Higashi Syndrome	Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Lymphadenopathy, Leukopenia, Splenomegaly, Impa...	OMIM:214500
Kallmann Syndrome With Spastic Paraplegia	Unilateral renal agenesis, Decreased circulating follicle stimulating hormone concentration, Decr...	OMIM:308750
Anaplastic Thyroid Carcinoma	Lymphadenopathy, Anaplastic thyroid carcinoma, Nodular goiter, Dysphagia, Goiter	ORPHA:142
Braddock-Carey Syndrome 2	Microphthalmia, Thrombocytopenia	OMIM:619981
Marden-Walker Syndrome	Microphthalmia, Dextrocardia, Hypospadias, Renal hypoplasia, Cryptorchidism, Micropenis	OMIM:248700
Seckel Syndrome 2	Microphthalmia, Ectopic kidney, Hypospadias	OMIM:606744
Thrombocythemia 1	Thrombocytosis, Splenomegaly	OMIM:187950
Wolman Disease	Hepatomegaly, Anemia, Bone-marrow foam cells, Ascites, Splenomegaly, Adrenal calcification, Adren...	ORPHA:75233
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Decreased response to growth hormone stimulation test, Hypocalcemic seizures, Microphthalmia, Con...	OMIM:241410
Boutonneuse Fever	Lymphadenopathy, Thrombocytopenia, Leukopenia, Renal insufficiency, Cervical lymphadenopathy	ORPHA:83313
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Decreased proportion of CD8-positive T cells, Lymphadenopathy, Decreased proportion of CD3-positi...	ORPHA:169154
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Microphthalmia, Hematuria	ORPHA:1473
Familial Partial Lipodystrophy, Dunnigan Type	Hypertriglyceridemia, Hepatomegaly, Pancreatitis, Secondary amenorrhea, Hypertrophic cardiomyopat...	ORPHA:2348
47,Xyy Syndrome	Male infertility, Hypospadias, Increased serum testosterone level, Azoospermia, Hyperactivity, Ol...	ORPHA:8
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Jaundice, Hepatomegaly, Anemia, Abnormal natural killer cell count, Pancytopenia, Inappropriate a...	ORPHA:79124
Myotonic Dystrophy 1	Obsessive-compulsive trait, Cholelithiasis, Dysphagia, Hypogonadism, Testicular atrophy	OMIM:160900
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Neutropenia in presence of anti-neutr...	ORPHA:436159
Congenital Disorder Of Glycosylation, Type Iq	Microphthalmia, Microcytic anemia, Dysphagia	OMIM:612379
Trichothiodystrophy 3, Photosensitive	Microphthalmia, Bilateral cryptorchidism, Abdominal adhesions, Lymphopenia, Neutropenia	OMIM:616395
Warburg Micro Syndrome 4	Microphthalmia, Decreased testicular size, Small scrotum, Cryptorchidism, Micropenis	OMIM:615663
Craniotelencephalic Dysplasia	Optic nerve hypoplasia, Microphthalmia	OMIM:218670
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Lymphadenopathy, B lymphocytopenia, Thyroiditis, T lymphocytopenia, ...	OMIM:606367
Citrullinemia Type Ii	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Pancreatitis, Abnorm...	ORPHA:247585
Alpha-Thalassemia Myelodysplasia Syndrome	HbH hemoglobin, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio	OMIM:300448
Cerebrooculofacioskeletal Syndrome 2	Small scrotum, Microphthalmia, Micropenis	OMIM:610756
Sézary Syndrome	Lymphadenopathy, Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly	ORPHA:3162
Lesch-Nyhan Syndrome	Hyperuricemia, Megaloblastic anemia, Nephrolithiasis, Nephrocalcinosis, Dysphagia, Self-injurious...	OMIM:300322
Erythrocytosis, Familial, 1	Increased circulating hemoglobin concentration, Increased red blood cell mass, Splenomegaly, Incr...	OMIM:133100
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	HbH hemoglobin, Cryptorchidism, Microcytic anemia, Hypospadias	ORPHA:98791
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune...	OMIM:616100
Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	ORPHA:2717
Carcinoid Syndrome	Abnormal circulating B-type natriuretic peptide concentration, Chronic noninfectious lymphadenopa...	ORPHA:100093
Hyperparathyroidism, Neonatal Severe	Polydipsia, Polyuria, Calcinosis, Hepatomegaly, Anemia, Elevated circulating parathyroid hormone ...	OMIM:239200
Mucopolysaccharidosis, Type Iiic	Hepatomegaly, Hyperactivity, Asymmetric septal hypertrophy, Splenomegaly, Dysphagia, Heparan sulf...	OMIM:252930
Kapur-Toriello Syndrome	Microphthalmia, Hypoplasia of penis, Tetralogy of Fallot, Ventricular septal defect, Hypoplastic ...	ORPHA:2328
Acquired Hypertrichosis Lanuginosa	Ovarian neoplasm, Lymphadenopathy	ORPHA:2221
Chromosome 13Q33-Q34 Deletion Syndrome	Penoscrotal transposition, Microphthalmia, Hypospadias, Hyperactivity, Bifid scrotum, Pulmonic st...	OMIM:619148
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Agitation, Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concent...	OMIM:615688
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Small scrotum, Microphthalmia, Cryptorchidism, Hypogonadism	ORPHA:228390
Proteasome-Associated Autoinflammatory Syndrome 4	Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly, Lymphadenopathy	OMIM:619183
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Hepatocellular carcinoma, Ascites, Portal hypertension, Thrombocytopenia, Splenomeg...	OMIM:619463
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Microphthalmia	ORPHA:324416
Mixed Connective Tissue Disease	Myocarditis, Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Pericarditis, Leukopenia...	ORPHA:809
Whipple Disease	Polydipsia, Anorexia, Myocarditis, Hepatomegaly, Anemia, Mediastinal lymphadenopathy, Erectile dy...	ORPHA:3452
Acute Interstitial Pneumonia	Reduced hematocrit, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Peric...	ORPHA:79126
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Cholestatic liver disease, Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Anemia, Lymphadenopathy...	OMIM:619418
Familial Pancreatic Carcinoma	Anorexia, Jaundice, Lymphadenopathy, Peritoneal abscess, Hepatosplenomegaly, Exocrine pancreatic ...	ORPHA:1333
Osteoporosis-Pseudoglioma Syndrome	Isosexual precocious puberty, Microphthalmia	ORPHA:2788
Thrombocytopenia, Anemia, And Myelofibrosis	Anisopoikilocytosis, Thrombocytopenia, Anemia, Splenomegaly	OMIM:617441
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Elevated circulating thyroid-stimulating hormone concentration, Hepatomegaly, Splenic cyst, Incre...	OMIM:610199
Cerebrooculofacioskeletal Syndrome 1	Microphthalmia, Cryptorchidism	OMIM:214150
Immunodeficiency, Common Variable, 8, With Autoimmunity	Autoimmune hemolytic anemia, Lymphadenopathy, Pancytopenia, Decreased proportion of class-switche...	OMIM:614700
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Hepatocellular adenoma, Cirrhosis, Hepatomegaly, Anemia, Irregular menstrua...	ORPHA:79240
Kapur-Toriello Syndrome	Microphthalmia, Cryptorchidism, Atrial septal defect, Ventricular septal defect, Micropenis, Hypo...	OMIM:244300
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Attention deficit hyperactivity disorder, Agitation, Microphthalmia, Aggressive behavior	OMIM:152950
Bone Marrow Failure Syndrome 3	Aplastic anemia, Hyperechogenic pancreas, Anemia, Acute myeloid leukemia, Pancytopenia, Increased...	OMIM:617052
Immunodeficiency With Hyper-Igm, Type 1	Cirrhosis, Hepatomegaly, Sclerosing cholangitis, Chronic hepatitis, Enlarged tonsils, Thrombocyto...	OMIM:308230
Pediatric Systemic Lupus Erythematosus	Hematuria, Lymphadenopathy, Lymphopenia, Ascites, Nephrotic syndrome, Pericardial effusion, Nephr...	ORPHA:93552
Osteopetrosis, Autosomal Recessive 4	Hepatomegaly, Anemia, Reticulocytosis, Thrombocytopenia, Splenomegaly	OMIM:611490
Spinocerebellar Ataxia 32	Infertility, Testicular atrophy, Azoospermia	OMIM:613909
Aregenerative Anemia	Erythroid hypoplasia, Lymphadenopathy, Pancytopenia, Abnormal proportion of CD8-positive T cells,...	ORPHA:101096
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Microphthalmia	OMIM:251270
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Pancytopenia, B lymphocytopenia, Lymphadenitis, T lymphocytopenia, Leukopenia, Hepatosplenomegaly...	OMIM:618986
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Abnormality of the endocrine system, Splenomegaly, Abnormal blood ion concentration, Type I diabe...	ORPHA:37042
Drug-Induced Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Abnormal urinary color, Splenomegaly, Increased total bilirubin	ORPHA:90037
Frontonasal Dysplasia 1	Microphthalmia, Tetralogy of Fallot	OMIM:136760
Spinocerebellar Ataxia Type 32	Male infertility, Testicular atrophy, Azoospermia	ORPHA:276183
Fanconi Anemia, Complementation Group L	Microphthalmia, Anemia, Unilateral renal agenesis, Aplasia of the uterus, Bone marrow hypocellula...	OMIM:614083
Cyclic Neutropenia	Lymphadenopathy, Recurrent tonsillitis, Decreased eosinophil count, Thrombocytopenia, Peritonitis...	ORPHA:2686
Developmental Delay With Variable Neurologic And Brain Abnormalities	Microphthalmia	OMIM:619694
Pulmonary Non-Tuberculous Mycobacterial Infection	Pericardial effusion, Lymphadenopathy	ORPHA:411703
Lipodystrophy, Congenital Generalized, Type 2	Hypertriglyceridemia, Decreased fertility, Cirrhosis, Hepatomegaly, Clitoral hypertrophy, Ventric...	OMIM:269700
Neuroendocrine Tumor Of The Colon	Anorexia, Hepatomegaly, Chronic noninfectious lymphadenopathy, Atypical pulmonary carcinoid tumor...	ORPHA:100080
Sclerosing Cholangitis, Neonatal	Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Vesic...	OMIM:617394
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic l...	ORPHA:98849
Cholestasis, Progressive Familial Intrahepatic, 1	Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis with episodic jaundic...	OMIM:211600
Short Fifth Metacarpals-Insulin Resistance Syndrome	Hyperinsulinemia, Spherocytosis, Splenomegaly	ORPHA:66518
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos, Tongue thrusting	ORPHA:77299
Ritscher-Schinzel Syndrome 3	Atrioventricular canal defect, Cryptorchidism, Microphthalmia	OMIM:619135
Brucellosis	Anorexia, Myocarditis, Liver abscess, Anemia, Hepatomegaly, Lymphadenopathy, Abnormal aortic valv...	ORPHA:1304
Caroli Disease	Anorexia, Cirrhosis, Intrahepatic cholestasis, Jaundice, Cholangitis, Cholelithiasis, Hepatomegal...	ORPHA:53035
Congenital Muscular Dystrophy With Cerebellar Involvement	Optic nerve hypoplasia, Microphthalmia, Cardiomyopathy, Elevated circulating creatine kinase conc...	ORPHA:370959
Proteasome-Associated Autoinflammatory Syndrome 3	Hypertriglyceridemia, Hepatomegaly, Anemia, Lymphadenopathy, Thrombocytopenia, Splenomegaly, Lymp...	OMIM:617591
Myoclonic-Astatic Epilepsy	Hyperactivity, Attention deficit hyperactivity disorder, Microphthalmia	ORPHA:1942
Temtamy Syndrome	Microphthalmia	ORPHA:1777
Diffuse Cutaneous Mastocytosis	Hepatomegaly, Lymphadenopathy, Lymphocytosis, Myeloproliferative disorder, Abnormality of the spl...	ORPHA:79456
Cholestasis, Progressive Familial Intrahepatic, 9	Jaundice, Intrahepatic cholestasis, Hepatomegaly, Fibro-obliterative bile-duct lesion, Portal hyp...	OMIM:619849
Spondylo-Ocular Syndrome	Microphthalmia, Ventricular septal defect, Aplasia/Hypoplasia of the lens	ORPHA:85194
Fanconi Anemia, Complementation Group N	Aplastic anemia, Microphthalmia, Ectopic kidney, Unilateral renal agenesis, Acute myeloid leukemi...	OMIM:610832
Igg4-Related Kidney Disease	Enlarged kidney, Sclerosing cholangitis, Pericarditis, Elevated circulating creatinine concentrat...	ORPHA:449395
Fetal Cytomegalovirus Syndrome	Jaundice, Anemia, Hepatomegaly, Thrombocytopenia, Splenomegaly, Conjugated hyperbilirubinemia, He...	ORPHA:294
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Elevated urinary aminoisobutyric acid, Methylmalonic acidemia, Microphthalmia, Beta-alaninuria, E...	OMIM:614105
Middle Ear Neuroendocrine Tumor	Carcinoid tumor, Chronic noninfectious lymphadenopathy, Neuroendocrine neoplasm	ORPHA:100084
Cholestasis, Progressive Familial Intrahepatic, 2	Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Hepatocellular carcinoma, Intermittent jaundic...	OMIM:601847
Immunodeficiency 27B	Generalized lymphadenopathy	OMIM:615978
Gaucher Disease, Type I	Hepatomegaly, Anemia, Pancytopenia, Aortic valve stenosis, Thrombocytopenia, Splenomegaly, Hypers...	OMIM:230800
Multiple Benign Circumferential Skin Creases On Limbs	Microphthalmia, Hypospadias, Abnormal scrotum morphology, Small scrotum, Cryptorchidism	ORPHA:2505
Drug Reaction With Eosinophilia And Systemic Symptoms	Myocarditis, Lymphadenopathy, Renal insufficiency, Lymphocytosis, Thyroiditis, Nephrotic syndrome...	ORPHA:139402
Chronic Myeloid Leukemia	Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl...	ORPHA:521
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Hepatomegaly, Anemia, Erythroid hypoplasia, Hypoplasia of the thymus, Cryptorchidism, Pulmonic st...	OMIM:612541
3Q29 Microdeletion Syndrome	Microphthalmia, Horseshoe kidney, Hypospadias, Attention deficit hyperactivity disorder, Subvalvu...	ORPHA:65286
Meckel Syndrome, Type 5	Microphthalmia, Renal cyst, Bile duct proliferation	OMIM:611561
3P25.3 Microdeletion Syndrome	Microphthalmia, Pulmonic stenosis, Motor stereotypy, Attention deficit hyperactivity disorder, At...	ORPHA:435638
Papa Syndrome	Proteinuria, Type I diabetes mellitus, Lymphadenopathy	ORPHA:69126
Carney Triad	Anorexia, Mediastinal lymphadenopathy, Lymphadenopathy, Anemia, Adrenocortical adenoma, Pheochrom...	ORPHA:139411
Adams-Oliver Syndrome	Cirrhosis, Microphthalmia, Ascites, Portal hypertension, Thrombocytopenia, Leukopenia, Congenital...	ORPHA:974
Bronchial Neuroendocrine Tumor	Anorexia, Hepatomegaly, Chronic noninfectious lymphadenopathy, Pulmonary carcinoid tumor, Elevate...	ORPHA:97287
Microphthalmia, Syndromic 11	Microphthalmia, Agenesis of pineal gland	OMIM:614402
Adams-Oliver Syndrome 5	Patent foramen ovale, Right atrial enlargement, Portal vein thrombosis, Pulmonic stenosis, Spleno...	OMIM:616028
Glycogen Storage Disease Ixc	Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Increased hepatic glycogen content, Bile duct prol...	OMIM:613027
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Jaundice, Hepatomegaly, Anemia of inadequate production, Exocrine pancreatic insufficiency, Splen...	OMIM:612714
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Atrial septal defect, Increased size of nasopharyngeal adenoids, Ventricular septal defect, Persi...	OMIM:619769
Proboscis Lateralis	Microphthalmia, External genital hypoplasia, Unilateral renal agenesis, Anophthalmia, Optic nerve...	ORPHA:141099
Warburg Micro Syndrome 3	Microphthalmia, Hypoplastic labia minora, Decreased testicular size, Small scrotum, Micropenis	OMIM:614222
Micro Syndrome	Delayed puberty, Microphthalmia, Hypoplasia of penis, Hypoplastic labia minora, Clitoral hypoplas...	ORPHA:2510
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Pericardial lymphangiectasia, Intestinal lymphangiectasia, Ectopic kidney, Hyperactivity, Pleural...	OMIM:235510
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	HbH hemoglobin, Perimembranous ventricular septal defect, Hypochromic microcytic anemia, Hypospad...	OMIM:301040
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Situs inversus totalis, Microphthalmia, Optic nerve hypoplasia	OMIM:614833
Cat Eye Syndrome	Microphthalmia, Tricuspid atresia, Biliary atresia, Vesicoureteral reflux, Total anomalous pulmon...	OMIM:115470
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Atrial septal defect, Microphthalmia, Leukemia, Anophthalmia	ORPHA:2526
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope...	ORPHA:231154
Cerebrooculonasal Syndrome	Optic nerve hypoplasia, Hypoplastic male external genitalia, Anophthalmia	OMIM:605627
1Q21.1 Microdeletion Syndrome	Microphthalmia, Vesicoureteral reflux, Hydronephrosis, Attention deficit hyperactivity disorder, ...	ORPHA:250989
Mycosis Fungoides	Lymphadenopathy	OMIM:254400
Neuroblastoma	Elevated urinary catecholamine level, Anemia, Lymphadenopathy, Elevated urinary vanillylmandelic ...	ORPHA:635
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Lymphadenopathy, Elevated circulating C-reactive protein concentration, Leukocytosis, Pericarditi...	ORPHA:32960
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Hypopituitarism, Increased B cell count, Absent peripheral lymph nodes in presence of infection, ...	ORPHA:98813
Tyrosinemia, Type I	Elevated urinary delta-aminolevulinic acid, Cirrhosis, Hepatomegaly, Anemia, Enlarged kidney, Glo...	OMIM:276700
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Anemia, Ambiguous genitalia, Hypoplasia of penis, Male pseudohermaphroditism, Abnormality of the ...	ORPHA:847
Tangier Disease	Hypertriglyceridemia, Anemia, Chronic noninfectious lymphadenopathy, Coronary artery stenosis, Or...	ORPHA:31150
Fraser Syndrome 2	Microphthalmia, Unilateral renal agenesis, Hypoplasia of the thymus, Renal hypoplasia, Ureteral a...	OMIM:617666
Sandestig-Stefanova Syndrome	Perimembranous ventricular septal defect, Muscular ventricular septal defect, Microphthalmia	OMIM:618804
Diamond-Blackfan Anemia 3	Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol...	OMIM:610629
Kaposi Sarcoma	Abnormality of the liver, Generalized lymphadenopathy, Abnormality of the spleen	ORPHA:33276
Meckel Syndrome, Type 1	Ambiguous genitalia, male, Microphthalmia, External genital hypoplasia, Accessory spleen, Polycys...	OMIM:249000
Familial Mediterranean Fever	Hepatomegaly, Elevated circulating C-reactive protein concentration, Leukocytosis, Nephrotic synd...	OMIM:249100
Pearson Syndrome	Cardiomyopathy, Reticulocytosis, Bone marrow hypocellularity, Abnormal heart morphology, Splenome...	ORPHA:699
Fanconi Anemia	Microphthalmia, Leukopenia, Hypogonadism, Abnormal cardiac septum morphology, Hypospadias, Azoosp...	ORPHA:84
Bile Acid Synthesis Defect, Congenital, 1	Cirrhosis, Jaundice, Intrahepatic cholestasis, Giant cell hepatitis, Hepatomegaly, Splenomegaly, ...	OMIM:607765
Baraitser-Winter Syndrome 2	Microphthalmia	OMIM:614583
Multiple Myeloma	Acute kidney injury, Anemia, Lymphadenopathy, Nephrotic syndrome, Hypercalcemia, Splenomegaly, Hy...	ORPHA:29073
Basel-Vanagaite-Smirin-Yosef Syndrome	Clitoral hypertrophy, Microphthalmia, Hypospadias, Hydronephrosis, Atrial septal defect, Ventricu...	OMIM:616449
Chédiak-Higashi Syndrome	Hypertriglyceridemia, Jaundice, Anemia, Hemophagocytosis, Increased proportion of CD25+ mast cell...	ORPHA:167
Apolipoprotein C-Ii Deficiency	Hypertriglyceridemia, Hepatomegaly, Pancreatitis, Increased circulating chylomicron concentration...	OMIM:207750
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Hepatomegaly, Decreased testicular size, Splenomegaly, Hypogonadism, Decreased serum zinc, Decrea...	OMIM:201100
Fryns Syndrome	Microphthalmia, Hypospadias, Vesicoureteral reflux, Bicornuate uterus, Hydronephrosis, Tetralogy ...	ORPHA:2059
Syndromic Diarrhea	Bicuspid aortic valve, Cirrhosis, Hepatomegaly, Atrial septal defect, Abnormality of iron homeost...	ORPHA:84064
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Hypochromic microcytic anemia, B lymphocytopenia, Cardiomyopathy, Sideroblastic anemia, Nephrocal...	OMIM:616084
Mend Syndrome	Microphthalmia, Hyperactivity, Aortic valve stenosis, Abnormal heart morphology, Elevated 8(9)-ch...	ORPHA:401973
Warburg Micro Syndrome 2	Microphthalmia, Small scrotum, Cryptorchidism, Micropenis, Hypoplastic labia majora	OMIM:614225
Atelis Syndrome 2	Elevated circulating thyroid-stimulating hormone concentration, Microphthalmia, Hyperinsulinemia,...	OMIM:620185
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Hepatomegaly, Anemia, Splenomegaly	OMIM:620296
Hartsfield Syndrome	Microphthalmia	ORPHA:2117
Bile Acid Synthesis Defect, Congenital, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Acholic stools, Hyperbilirubinemia, ...	OMIM:613812
Microphthalmia, Lenz Type	Microphthalmia, Hydroureter, Hypospadias, Hydronephrosis, Self-injurious behavior, Cryptorchidism	ORPHA:568
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Enlarged kidney, Hepatomegaly, Periportal fibrosis, Tubulointerstitial fibrosis, Polycystic kidne...	OMIM:263200
Degcags Syndrome	Microphthalmia, Cholestasis, Abnormal spleen morphology, Choking episodes, Pulmonic stenosis, Leu...	OMIM:619488
Neuroendocrine Tumor Of The Rectum	Anorexia, Hepatomegaly, Chronic noninfectious lymphadenopathy, Atypical pulmonary carcinoid tumor...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Anorexia, Hepatomegaly, Chronic noninfectious lymphadenopathy, Atypical pulmonary carcinoid tumor...	ORPHA:100082
Aarskog-Scott Syndrome	Delayed puberty, Bilateral cryptorchidism, Elevated circulating follicle stimulating hormone leve...	OMIM:305400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Microphthalmia, Elevated circulating creatine kinase concentration, Abnormally large globe	OMIM:615249
Jacobsen Syndrome	Annular pancreas, Microphthalmia, Hypospadias, Labial hypoplasia, Ventricular septal defect, Clit...	OMIM:147791
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Jaundice, Hepatomegaly, Generalized aminoaciduria, Periportal fibrosis, Hyperbilirubinemia, Ascit...	OMIM:251880
Ring Chromosome 10 Syndrome	Hypocalcemia, Microphthalmia	ORPHA:1438
22Q11.2 Deletion Syndrome	Microphthalmia, Splenomegaly, Multiple renal cysts, Tricuspid atresia, Hypospadias, Hypocalcemia,...	ORPHA:567
Chromosome 1Q41-Q42 Deletion Syndrome	Ventricular septal defect, Microphthalmia, Cryptorchidism, Supernumerary nipple	OMIM:612530
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Microphthalmia, Compulsive behaviors, Attention deficit hyperactivity disorder, Supernumerary nip...	OMIM:620098
Holoprosencephaly 9	Decreased response to growth hormone stimulation test, Microphthalmia, Anterior pituitary agenesi...	OMIM:610829
Fraser Syndrome	Microphthalmia, Hypospadias, Abnormal vagina morphology, Hypoplasia of penis, Anophthalmia, Bicor...	ORPHA:2052
Stromme Syndrome	Microphthalmia, Accessory spleen, Optic nerve hypoplasia, Hydronephrosis, Bilateral renal hypoplasia	OMIM:243605
Autoimmune Lymphoproliferative Syndrome	Lymphocytosis, Reticulocytosis, Bone marrow hypocellularity, Splenomegaly, Lymphopenia, Thyroid c...	ORPHA:3261
Waldenström Macroglobulinemia	Anorexia, Normocytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Abnormality of neutroph...	ORPHA:33226
Bile Acid Synthesis Defect, Congenital, 2	Jaundice, Intrahepatic cholestasis, Hepatomegaly, Hyperbilirubinemia, Splenomegaly	OMIM:235555
Meige Disease	Absence of lymph node germinal center, Lymph node hypoplasia	ORPHA:90186
Martsolf Syndrome 1	Microphthalmia, Cardiomyopathy, Cryptorchidism, Micropenis, Hypogonadotropic hypogonadism	OMIM:212720
Meckel Syndrome, Type 2	Microphthalmia, Renal cyst, Bile duct proliferation	OMIM:603194
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Splenomegaly, Pancytopenia	OMIM:614979
Neuroendocrine Tumor Of Stomach	Anorexia, Hepatomegaly, Iron deficiency anemia, Chronic noninfectious lymphadenopathy, Atypical p...	ORPHA:100075
Trichohepatoenteric Syndrome 1	Cirrhosis, Jaundice, Hepatomegaly, Hypospadias, Galactosuria, Abnormality of iron homeostasis, Hy...	OMIM:222470
Elliptocytosis 1	Elliptocytosis, Jaundice, Splenomegaly, Hemolytic anemia	OMIM:611804
Lipodystrophy, Congenital Generalized, Type 1	Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Clitoral hypertrophy, Decreased fertility in femal...	OMIM:608594
Papillorenal Syndrome	Microphthalmia, Elevated circulating creatinine concentration, Hematuria, Horseshoe kidney, Vesic...	OMIM:120330
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Microphthalmia, Transposition of the great arteries, Elevated circulating creatine kinase concent...	OMIM:253800
Pallister-Hall Syndrome	Decreased response to growth hormone stimulation test, Microphthalmia, Hydroureter, Ectopic kidne...	OMIM:146510
Sting-Associated Vasculopathy, Infantile-Onset	Anemia, Elevated circulating C-reactive protein concentration, Paratracheal lymphadenopathy, Leuk...	OMIM:615934
Intellectual Developmental Disorder, Autosomal Dominant 48	Hypospadias, Hyperactivity, Motor stereotypy, Bicuspid aortic valve, Ventricular septal defect	OMIM:617751
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Lymphadenopathy, Elevated circulating C-reactive protein concentration, Increased proportion of C...	OMIM:617099
Temtamy Syndrome	Microphthalmia, Self-mutilation	OMIM:218340
Fryns Syndrome	Microphthalmia, Ureteral duplication, Hypospadias, Bifid scrotum, Bicornuate uterus, Renal cyst, ...	OMIM:229850
Meckel Syndrome 14	Microphthalmia, Polycystic kidney dysplasia, Aplasia of the uterus, Ambiguous genitalia, Hepatic ...	OMIM:619879
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Intraalveolar phospholipid accumulation, Leukocytosis	OMIM:618042
Stevenson-Carey Syndrome	Atrial septal defect, Microphthalmia	OMIM:611961
Gaucher Disease Type 3	Delayed puberty, Hepatomegaly, Anemia, Hematuria, Pancytopenia, Abnormal heart valve morphology, ...	ORPHA:77261
Tetraamelia-Multiple Malformations Syndrome	Microphthalmia, Septo-optic dysplasia, Vaginal atresia, Cryptorchidism, Multicystic kidney dysplasia	ORPHA:3301
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome	Hyperactivity, Elevated circulating growth hormone concentration, Decreased serum insulin-like gr...	ORPHA:85327
Familial Mediterranean Fever	Pancreatitis, Lymphadenopathy, Leukocytosis, Ascites, Nephrotic syndrome, Pericarditis, Nephrocal...	ORPHA:342
Chromosome 17Q12 Duplication Syndrome	Atrial septal defect, Microphthalmia	OMIM:614526
Basel-Vanagaite-Smirin-Yosef Syndrome	Atrial septal defect, Microphthalmia, Hypospadias, Cholelithiasis, Hydronephrosis, Male urethral ...	ORPHA:464738
Focal Dermal Hypoplasia	Microphthalmia, Ureteral duplication, Aniridia, Anophthalmia, Labial hypoplasia, Hypoplastic nipp...	OMIM:305600
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Gaucher Disease, Type Iiic	Hepatomegaly, Pancytopenia, Mitral valve calcification, Mitral stenosis, Splenomegaly, Aortic val...	OMIM:231005
Hereditary Methemoglobinemia	Methemoglobinemia	ORPHA:621
Diamond-Blackfan Anemia	Elevated red cell adenosine deaminase activity, Acute myeloid leukemia, Normochromic anemia, Eryt...	ORPHA:124
Cohen Syndrome	Delayed puberty, Microphthalmia, Ventricular septal defect, Mitral valve prolapse, Cryptorchidism...	ORPHA:193
Glycogen Storage Disease Ib	Delayed puberty, Enlarged kidney, Hepatomegaly, Pancreatitis, Decreased glomerular filtration rat...	OMIM:232220
Linear Skin Defects With Multiple Congenital Anomalies 1	Clitoral hypertrophy, Microphthalmia, Hypospadias, Ovotestis, Histiocytoid cardiomyopathy, Chorde...	OMIM:309801
Microphthalmia, Syndromic 6	Microphthalmia, Anterior hypopituitarism, Anophthalmia, Adrenal hypoplasia, Female hypogonadism, ...	OMIM:607932
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Marburg Hemorrhagic Fever	Anorexia, Jaundice, Pancreatitis, Lymphadenopathy, Hypokalemia, Neutrophilia in presence of infec...	ORPHA:99826
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Unilateral microphthalmos, Hypospadias, Mitral valve prolapse, Macroorchidism	OMIM:618874
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Pancreatitis, Vacuolated lymphocytes, Cardiomyopathy, Hyperlipidemia, Elevated circ...	ORPHA:565612
Holoprosencephaly-Postaxial Polydactyly Syndrome	Microphthalmia, Hypospadias, Hypoplasia of penis, Adrenal hypoplasia, Thyroid hypoplasia, Abnorma...	ORPHA:2166
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Self-injurious behavior, Recurrent hand flapping, Persistence of hemoglobin F	OMIM:617101
Glycogen Storage Disease Ii	Hepatomegaly, Urinary incontinence, Increased circulating NT-proBNP concentration, Elevated circu...	OMIM:232300
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Jaundice, Hepatomegaly, Increased total iron binding capacity, Abnormal blood inorganic cation co...	ORPHA:309854
Hemophagocytic Syndrome Associated With An Infection	Hypertriglyceridemia, Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell count,...	ORPHA:158048
Crimean-Congo Hemorrhagic Fever	Inappropriate antidiuretic hormone secretion, Ascites, Leukopenia, Splenomegaly, Cholecystitis, A...	ORPHA:99827
T-Cell Immunodeficiency With Thymic Aplasia	Lymphadenopathy, Thyroiditis, Decreased proportion of naive T cells, T lymphocytopenia, Hypothyro...	ORPHA:83471
Hyper-Igd Syndrome	Lymphadenopathy, Leukocytosis, Lymphadenitis, Neutrophilia, Hepatosplenomegaly, Splenomegaly, Ele...	OMIM:260920
Neutral Lipid Storage Disease With Myopathy	Hypertriglyceridemia, Hepatomegaly, Chronic pancreatitis, Cardiomyopathy, Elevated circulating cr...	OMIM:610717
Mosaic Trisomy 1	Microphthalmia, Renal cortical cysts, Renal cyst, Hepatic agenesis, Penile hypospadias, Ventricul...	ORPHA:1692
Klatskin Tumor	Jaundice, Hepatomegaly, Lymphadenopathy, Cholangiocarcinoma, Extrahepatic cholestasis	ORPHA:99978
Autoinflammatory Disease, Systemic, With Vasculitis	Jaundice, Hepatomegaly, Anemia, Elevated circulating C-reactive protein concentration, Congenital...	OMIM:620376
Myelofibrosis	Hepatomegaly, Hemophagocytosis, Myeloproliferative disorder, Splenomegaly, Extramedullary hematop...	OMIM:254450
Monosomy 18P	Hypothyroidism, Microphthalmia	ORPHA:1598
Branchiooculofacial Syndrome	Microphthalmia, Hypospadias, Anophthalmia, Duplication of internal organs, Renal cyst, Ectopic th...	OMIM:113620
Congenital Syphilis	Myocarditis, Pancreatitis, Anemia, Lymphadenopathy, Nephrotic syndrome, Prolonged neonatal jaundi...	ORPHA:499009
Chronic Visceral Acid Sphingomyelinase Deficiency	Hypertriglyceridemia, Abnormal circulating lipid concentration, Cirrhosis, Hepatomegaly, Decrease...	ORPHA:77293
Kenny-Caffey Syndrome, Type 2	Microphthalmia, Hypoparathyroidism, Anemia, Transient hypophosphatemia, Hypocalcemia, Hyperphosph...	OMIM:127000
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Perimembranous ventricular septal defect, Atrioventricular canal defect, Microphthalmia, Hypospad...	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	Increased mean corpuscular volume, Portal hypertension, Thrombocytopenia, Splenomegaly, Nodular r...	OMIM:620367
Shwachman-Diamond Syndrome 1	Hepatomegaly, Anemia, Acute myeloid leukemia, Pancytopenia, Myocardial necrosis, Persistence of h...	OMIM:260400
Dubowitz Syndrome	Aplastic anemia, Microphthalmia, Hypospadias, Hyperactivity, Hypoplasia of the iris, Acute lympho...	OMIM:223370
Oculocerebrorenal Syndrome Of Lowe	Delayed puberty, Abnormal circulating calcium-phosphate regulating hormone concentration, Microph...	ORPHA:534
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative bur...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative bur...	OMIM:233710
Argininemia	Anorexia, Hepatomegaly, Portal fibrosis, Reduced erythrocyte arginase activity, Oroticaciduria, H...	OMIM:207800
Trichothiodystrophy 4, Nonphotosensitive	Microphthalmia, Ventricular septal defect, Decreased fertility	OMIM:234050
Tetraamelia Syndrome 1	Microphthalmia, Absent external genitalia, Hypoplasia of the fallopian tube, Asplenia, Vaginal at...	OMIM:273395
Triosephosphate Isomerase Deficiency	Normocytic anemia, Jaundice, Chronic hemolytic anemia, Normochromic anemia, Macrocytic anemia, Ch...	OMIM:615512
Immunodeficiency 87 And Autoimmunity	Autoimmune hemolytic anemia, Atrial septal defect, Hypertriglyceridemia, Jaundice, Hepatomegaly, ...	OMIM:619573
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Microphthalmia, Oligosacchariduria	ORPHA:163649
Adams-Oliver Syndrome 2	Microphthalmia	OMIM:614219
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Increased mean platelet volume, Menorrhagia, Thrombocytopenia, Splenomegaly, Stomatocytosis, Hemo...	OMIM:153670
Autosomal Recessive Polycystic Kidney Disease	Polydipsia, Enlarged kidney, Cholestasis, Ascites, Biliary hyperplasia, Splenomegaly, Oliguria, A...	ORPHA:731
Anterior Segment Dysgenesis 5	Rieger anomaly, Microphthalmia, Hypoplasia of the fovea, Hypoplasia of the iris	OMIM:604229
Joubert Syndrome 14	Microphthalmia, Ventricular septal defect, Renal cyst	OMIM:614424
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative bur...	OMIM:233690
Frontonasal Dysplasia 3	Microphthalmia	OMIM:613456
Microphthalmia With Limb Anomalies	Microphthalmia, Cryptorchidism, Horseshoe kidney, True anophthalmia	ORPHA:1106
Graft Versus Host Disease	Jaundice, Lymphadenopathy, Hemophagocytosis, Acute hepatitis, Hyperbilirubinemia, Chronic hepatit...	ORPHA:39812
Oculofaciocardiodental Syndrome	Microphthalmia, Mitral valve prolapse, Abnormal cardiac septum morphology	ORPHA:2712
Cutaneous Neuroendocrine Carcinoma	Lymphoid leukemia, Carcinoid tumor, Chronic noninfectious lymphadenopathy, Merkel cell skin cancer	ORPHA:79140
Primary Hepatic Neuroendocrine Carcinoma	Anorexia, Hepatomegaly, Biliary tract obstruction, Intrahepatic cholestasis with episodic jaundic...	ORPHA:100085
Hereditary Orotic Aciduria	Oroticaciduria, Anemia, Abnormality of the ureter, Orotic acid crystalluria, Splenomegaly, Aminoa...	ORPHA:30
Aicardi-Goutieres Syndrome 7	Increased circulating ferritin concentration, Hepatomegaly, Anemia, Pancytopenia, Hypertrophic ca...	OMIM:615846
Heart And Brain Malformation Syndrome	Microphthalmia, Ventricular septal defect	OMIM:616920
Immunodeficiency 31C	Autoimmune hemolytic anemia, Delayed puberty, Hepatomegaly, Impaired lymphocyte transformation wi...	OMIM:614162
Wilson Disease	Portal fibrosis, Ascites, Splenomegaly, Dysphagia, High nonceruloplasmin-bound serum copper, Hepa...	OMIM:277900
Isolated Biliary Atresia	Cirrhosis, Jaundice, Hepatomegaly, Periportal fibrosis, Cholestasis, Bile duct proliferation, Atr...	ORPHA:30391
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Hepatomegaly, Mediastinal lymphadenopathy, Hilar lymph node enlargement, Cholestasis, Leukocytosi...	OMIM:620233
Parenteral Nutrition-Associated Cholestasis	Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Hyperlipidemia, Portal hypertension, Biliary h...	ORPHA:567983
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Annular pancreas, Microphthalmia, Hypospadias, Patent foramen ovale, Vesicoureteral reflux, Ventr...	OMIM:616975
Gray Platelet Syndrome	Menorrhagia, Thrombocytopenia, Splenomegaly, Abnormal number of alpha granules	OMIM:139090
Thymoma	Aplastic anemia, Neoplasm of the thyroid gland, Prostate neoplasm, Pure red cell aplasia, Imbalan...	ORPHA:99867
Hyperlipoproteinemia, Type Id	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Pancreatitis, Increa...	OMIM:615947
Fetal Alcohol Syndrome	Atrial septal defect, Microphthalmia	ORPHA:1915
Lymphangioleiomyomatosis	Hematuria, Lymphadenopathy, Chylopericardium, Abnormality of the lymphatic system, Ascites, Abnor...	ORPHA:538
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Autoimmune hemolytic anemia, Hepatomegaly, Elevated circulating C-reactive protein concentration,...	OMIM:620565
Gaucher Disease	Delayed puberty, Decreased HDL cholesterol concentration, Leukopenia, Splenomegaly, Dysphagia, Pa...	ORPHA:355
Nance-Horan Syndrome	Microphthalmia	ORPHA:627
Acute Generalized Exanthematous Pustulosis	Lymphadenopathy, Cholestasis, Leukocytosis, Neutrophilia, Eosinophilia, Renal insufficiency, Neut...	ORPHA:293173
Liver Disease, Severe Congenital	Left atrial enlargement, Lymphocytosis, Hypoproteinemia, Ascites, Biliary hyperplasia, Hyperammon...	OMIM:619991
Hennekam Syndrome	Lymphadenopathy, Ectopic kidney, Hypocalcemia, Ascites, Pericardial effusion, Lymphangioma, Splen...	ORPHA:2136
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Testicular atrophy	OMIM:601163
Pancreatoblastoma	Jaundice, Abnormal lymph node morphology, Pancreatic calcification	ORPHA:677
Duane-Radial Ray Syndrome	Microphthalmia, Optic disc hypoplasia, Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis, C...	OMIM:607323
Common Variable Immunodeficiency	Lymphadenopathy, Splenomegaly, Lymphopenia, Abnormality of the liver, Autoimmune thrombocytopenia...	ORPHA:1572
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Lymphadenopathy, Elevated circulating C-reactive protein concentration, Lymphocytosis, Decreased ...	OMIM:617718
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microphthalmia, Abnormal heart morphology	OMIM:618571
Histiocytoid Cardiomyopathy	Microphthalmia, Hepatomegaly, Congenital aphakia, Renal cyst, Cardiomegaly, Polycystic ovaries, V...	ORPHA:137675
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia	OMIM:167730
Cockayne Syndrome Type 3	Microphthalmia, Hepatomegaly, Hydroureter, Unilateral renal agenesis, Neurogenic bladder, Cardiom...	ORPHA:90324
Ileal Neuroendocrine Tumor	Lymphadenopathy, Iron deficiency anemia, Tricuspid stenosis, Small intestine carcinoid, Pulmonic ...	ORPHA:100078
Gallbladder Neuroendocrine Tumor	Anorexia, Biliary tract obstruction, Intermittent jaundice, Chronic noninfectious lymphadenopathy...	ORPHA:100086
Garg-Mishra Progeroid Syndrome	Microvesicular hepatic steatosis, Microphthalmia	OMIM:620601
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Microphthalmia, Patent foramen ovale, Hypoplastic nipples, Thyroid hypoplasia, Absent nipple, Unc...	OMIM:620186
Trichothiodystrophy 6, Nonphotosensitive	Increased HbA2 hemoglobin, Decreased mean corpuscular volume	OMIM:616943
Idiopathic Hypereosinophilic Syndrome	Portal fibrosis, Cholangitis, Generalized lymphadenopathy, Pancreatitis, Anemia, Myocardial eosin...	ORPHA:3260
Farber Disease	Anemia, Lymphadenopathy, Intrahepatic cholestasis with episodic jaundice, Ascites, Hepatosplenome...	ORPHA:333
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Buphthalmos, Microphthalmia, Elevated circulating creatine kinase concentration	OMIM:616538
Hardikar Syndrome	Intrahepatic bile duct dilatation, Cholestasis, Prolonged neonatal jaundice, Splenomegaly, Hypers...	OMIM:301068
Malakoplakia	Prostate neoplasm, Hematuria, Dysuria, Urinary hesitancy, Urinary urgency, Proteinuria, Orchitis,...	ORPHA:556
Hyperimmunoglobulinemia D With Periodic Fever	Hepatomegaly, Lymphadenopathy, Peritonitis	ORPHA:343
8Q21.11 Microdeletion Syndrome	Microphthalmia, Cryptorchidism, Hypoplasia of penis	ORPHA:284160
Cerebrooculofacioskeletal Syndrome 4	Bilateral microphthalmos, Abnormal heart morphology	OMIM:610758
Melkersson-Rosenthal Syndrome	Oligosacchariduria, Lymphadenopathy	ORPHA:2483
Malt Lymphoma	Mediastinal lymphadenopathy, Anemia, Lymphadenopathy, Abnormality of the thyroid gland	ORPHA:52417
Lysinuric Protein Intolerance	Hepatomegaly, Pancreatitis, Hemophagocytosis, Anemia, Oroticaciduria, Intraalveolar phospholipid ...	OMIM:222700
Igg4-Related Submandibular Gland Disease	Enlarged lacrimal glands, Abnormal salivary gland morphology, Prostatitis, Cholangitis, Abnormal ...	ORPHA:449432
Alpha-Thalassemia	Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio	OMIM:604131
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Hyperlipoproteinemia, Type I	Lactescent serum, Jaundice, Increased circulating chylomicron concentration, Acute pancreatitis, ...	OMIM:238600
Bartsocas-Papas Syndrome 2	Microphthalmia	OMIM:619339
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Microphthalmia, Abnormal cardiac septum morphology	ORPHA:1352
Mosaic Variegated Aneuploidy Syndrome	Microphthalmia, Ascites, Vaginal neoplasm, Hypothyroidism, Acute lymphoblastic leukemia, Ambiguou...	ORPHA:1052
Cystinosis, Nephropathic	Polydipsia, Delayed puberty, Generalized aminoaciduria, Primary hypothyroidism, Splenomegaly, Dys...	OMIM:219800
Immunodeficiency 82 With Systemic Inflammation	Anorexia, Anemia, Lymphadenopathy, Anoperineal fistula, Elevated circulating C-reactive protein c...	OMIM:619381
Treacher-Collins Syndrome	Microphthalmia, Abnormality of the adrenal glands, Rectovaginal fistula, Hypoplasia of penis, Thy...	ORPHA:861
Coccidioidomycosis	Abnormality of the female genitalia, Mediastinal lymphadenopathy, Pancreatitis, Lymphadenopathy, ...	ORPHA:228123
Linear Skin Defects With Multiple Congenital Anomalies 3	Histiocytoid cardiomyopathy, Thyroid C cell hyperplasia, Microphthalmia, Dilated cardiomyopathy	OMIM:300952
Hydrolethalus Syndrome 1	Adrenal gland dysgenesis, Microphthalmia, Hypospadias, Abnormal vagina morphology, Accessory sple...	OMIM:236680
Ohdo Syndrome, X-Linked	Microphthalmia, Small scrotum, Shawl scrotum, Cryptorchidism, Micropenis	OMIM:300895
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Calcinosis, Hypokalemia, Hypocalcemia, Renal artery stenosis, Renal hypoplasia, Hyponatremia, Nep...	OMIM:617913
Chromosome 8Q21.11 Deletion Syndrome	Microphthalmia, Cryptorchidism, Micropenis	OMIM:614230
Sarcoidosis	Increased T cell count, Nephrocalcinosis, Leukopenia, Abnormal reproductive system morphology, En...	ORPHA:797
Autosomal Dominant Kenny-Caffey Syndrome	Bilateral microphthalmos, Hypocalcemic seizures, Anemia, Congenital hypoparathyroidism, Abnormal ...	ORPHA:93325
Joubert Syndrome 2	Microphthalmia, Nephronophthisis, Hypoplastic male external genitalia, Renal cyst, Renal insuffic...	OMIM:608091
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Microphthalmia	OMIM:300863
Microphthalmia, Isolated, With Corectopia	Microphthalmia	OMIM:156900
Autosomal Dominant Keratitis	Bilateral microphthalmos, Aniridia, Hypoplastic iris stroma, Hypoplasia of the fovea, Macular hyp...	ORPHA:2334
Microphthalmia, Syndromic 1	Microphthalmia, Hydroureter, Hypospadias, Anophthalmia, Renal hypoplasia, Bicuspid aortic valve, ...	OMIM:309800
Pulmonary Capillary Hemangiomatosis	Pericardial effusion, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:199241
Phace Association	Microphthalmia, Optic nerve hypoplasia, Congenital hypothyroidism, Ventricular septal defect, Lin...	OMIM:606519
Blepharophimosis, Ptosis, And Epicanthus Inversus	Microphthalmia, Premature ovarian insufficiency, Female infertility, Amenorrhea, Increased circul...	OMIM:110100
Trisomy 18	Microphthalmia, Cryptorchidism, Hydronephrosis, Atrial septal defect, Ventricular septal defect, ...	ORPHA:3380
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Microphthalmia, Optic nerve hypoplasia, Hypoplastic male external genitalia, Elevated circulating...	OMIM:236670
2Q31.1 Microdeletion Syndrome	Microphthalmia, Ventricular septal defect, Abnormality of the hypothalamus-pituitary axis, Atrial...	ORPHA:251014
Granulomatous Disease, Chronic, X-Linked	Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Ascites, Splenomegaly, Impaired oxid...	OMIM:306400
Behçet Disease	Anorexia, Pancreatitis, Lymphadenopathy, Pericarditis, Endocarditis, Splenomegaly, Orchitis, Abno...	ORPHA:117
Cockayne Syndrome B	Microphthalmia, Hepatomegaly, Renal insufficiency, Hypoplasia of the iris, Proteinuria, Splenomeg...	OMIM:133540
Tuberous Sclerosis Complex	Cardiac rhabdomyoma, Hyperactivity, Pheochromocytoma, Impulsivity, Pituitary adenoma, Parathyroid...	ORPHA:805
Galloway-Mowat Syndrome 3	Microphthalmia, Glomerular sclerosis, Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuri...	OMIM:617729
3Q29 Microduplication Syndrome	Microphthalmia, Ventricular septal defect, Aniridia	ORPHA:251038
Lowe Oculocerebrorenal Syndrome	Low-molecular-weight proteinuria, Bicarbonaturia, Microphthalmia, Hypercholesterolemia, Elevated ...	OMIM:309000
Proteasome-Associated Autoinflammatory Syndrome 1	Hypertriglyceridemia, Elevated circulating thyroid-stimulating hormone concentration, Decreased H...	OMIM:256040
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Microphthalmia, Renal cyst, Renal hypoplasia, Ambiguous genitalia, Cryptorchidism	OMIM:616300
Autosomal Recessive Malignant Osteopetrosis	Hepatomegaly, Anemia, Lymphadenopathy, Hypocalcemia, Splenomegaly, Hypophosphatemia, Abnormal pul...	ORPHA:667
Lymphatic Malformation 6	Intestinal lymphangiectasia, Ascites, Hypothyroidism, Splenomegaly, Atrial septal defect, Hydroce...	OMIM:616843
Townes-Brocks Syndrome	Delayed puberty, Microphthalmia, Ectopic kidney, Hypoplasia of penis, Abnormal vagina morphology,...	ORPHA:857
Cockayne Syndrome	Delayed puberty, Microphthalmia, Hepatomegaly, Urinary incontinence, Unilateral renal agenesis, H...	ORPHA:191
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Polycythemia, Methemoglobinemia	OMIM:250800
Monosomy 9Q22.3	Hyperactivity, Ovarian fibroma, Microphthalmia, Cardiac fibroma	ORPHA:77301
Bosma Arhinia Microphthalmia Syndrome	Microphthalmia, Hypospadias, Primary amenorrhea, Cryptorchidism, Micropenis, Hypogonadotropic hyp...	OMIM:603457
Otodental Syndrome	Microphthalmia, Lens coloboma	ORPHA:2791
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Microphthalmia, Uterus didelphys, Tetralogy of Fallot, Absent gallbladder, Septate vagina, Microp...	OMIM:617925
Congenital Primary Aphakia	Microphthalmia, Aniridia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenita...	ORPHA:83461
Teebi-Shaltout Syndrome	Microphthalmia, Ureteral stenosis, Aortic valve stenosis, Hydronephrosis, Ventricular septal defe...	OMIM:272950
Neuroendocrine Neoplasm Of Appendix	Anorexia, Hepatomegaly, Ovarian neoplasm, Adrenocorticotropic hormone excess, Chronic noninfectio...	ORPHA:100079
Bartsocas-Papas Syndrome 1	Microphthalmia, Ectopic kidney, Hypoplastic labia majora, Hypoplastic male external genitalia, Pa...	OMIM:263650
Cornea Plana 2, Autosomal Recessive	Microphthalmia	OMIM:217300
Alkaptonuria	Prostatitis, Black pigment gallstones, Abnormal heart valve morphology, Nephrolithiasis, Mitral v...	ORPHA:56
Frontonasal Dysplasia 2	Microphthalmia, Bilateral cryptorchidism	OMIM:613451
Frontofacionasal Dysplasia	Microphthalmia	ORPHA:1791
Spondyloenchondrodysplasia With Immune Dysregulation	Lymphadenopathy, Tubulointerstitial fibrosis, T lymphocytopenia, Hypothyroidism, Lymphopenia, Aut...	OMIM:607944
Beckwith-Wiedemann Syndrome	Enlarged kidney, Ureteral duplication, Splenomegaly, Multiple renal cysts, Cardiomegaly, Abnormal...	ORPHA:116
Focal Dermal Hypoplasia	Microphthalmia, Hypoplasia of the iris, Hydronephrosis, Ventricular septal defect, Multicystic ki...	ORPHA:2092
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Buphthalmos, Microphthalmia	OMIM:212550
Kawasaki Disease	Myocarditis, Cervical lymphadenopathy, Jaundice, Elevated circulating C-reactive protein concentr...	ORPHA:2331
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Premature ovarian insufficiency, Secondary amenorrhea, Hypergonadotropic hypogonadism, Dysphagia,...	OMIM:157640
Galloway-Mowat Syndrome 1	Microphthalmia, Focal segmental glomerulosclerosis, Hypoplasia of the iris, Nephrotic syndrome, P...	OMIM:251300
Steinfeld Syndrome	Absent gallbladder, Microphthalmia, Abnormal heart morphology	OMIM:184705
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Microphthalmia	ORPHA:163966
Rodrigues Blindness	Microphthalmia	OMIM:268320
Diamond-Blackfan Anemia 1	Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol...	OMIM:105650
Chondrodysplasia Punctata 2, X-Linked Dominant	Elevated 8(9)-cholestenol, Microphthalmia, Hydronephrosis, Elevated 8-dehydrocholesterol	OMIM:302960
Porphyria, Congenital Erythropoietic	Jaundice, Hepatomegaly, Red urine, Cholelithiasis, Elevated circulating uroporphyrin concentratio...	OMIM:263700
Anterior Segment Dysgenesis 7	Buphthalmos, Microphthalmia	OMIM:269400
Sarcoidosis, Susceptibility To, 1	Anorexia, Enlarged lacrimal glands, Hepatomegaly, Mediastinal lymphadenopathy, Abnormal salivary ...	OMIM:181000
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia	OMIM:305390
Xeroderma Pigmentosum, Complementation Group B	Microphthalmia, Hypogonadism	OMIM:610651
Anterior Segment Dysgenesis 2	Microphthalmia, Anterior segment of eye aplasia, Congenital aphakia, Aniridia	OMIM:610256
Cushing Syndrome Due To Ectopic Acth Secretion	Pheochromocytoma, Adrenal hyperplasia, Pulmonary carcinoid tumor, Lymphopenia, Medullary thyroid ...	ORPHA:99889
Pallister-Hall Syndrome	Microphthalmia, Ectopic kidney, Thyroid hypoplasia, Small scrotum, Central adrenal insufficiency,...	ORPHA:672
Phace Syndrome	Microphthalmia, Optic nerve hypoplasia, Hypothyroidism, Abnormal heart morphology, Tetralogy of F...	ORPHA:42775
Trichothiodystrophy	Gonadal dysgenesis, Bilateral microphthalmos, Anemia, Increased mean corpuscular hemoglobin conce...	ORPHA:33364
Digeorge Syndrome	Ovarian cyst, Splenomegaly, Abnormal thymus morphology, Hepatic steatosis, Hypocalcemia, Truncus ...	OMIM:188400
Norrie Disease	Buphthalmos, Microphthalmia, Hypoplasia of the iris, Aggressive behavior	OMIM:310600
Chromosome 13Q14 Deletion Syndrome	Microphthalmia, Supernumerary nipple, Patent foramen ovale, Cryptorchidism, Ventricular septal de...	OMIM:613884
Pelvis-Shoulder Dysplasia	Microphthalmia	OMIM:169550
Trichothiodystrophy 1, Photosensitive	Microphthalmia, Hypogonadism	OMIM:601675
X-Linked Dominant Chondrodysplasia Punctata	Microphthalmia, Hydronephrosis	ORPHA:35173
Adams-Oliver Syndrome 1	Microphthalmia, Imperforate hymen, Pulmonic stenosis, Aortic valve stenosis, Tetralogy of Fallot,...	OMIM:100300
Renpenning Syndrome 1	Situs inversus totalis, Microphthalmia, Hypospadias, Phimosis, Decreased testicular size, Renal h...	OMIM:309500
Selective Igm Deficiency	Thyroid carcinoma, Decreased proportion of CD8-positive T cells, Lymphadenopathy, Decreased propo...	ORPHA:331235
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Optic nerve hypoplasia, Bilateral microphthalmos	OMIM:607597
Incontinentia Pigmenti	Breast hypoplasia, Microphthalmia, Breast aplasia, Hypoplastic nipples, Leukocytosis, Hypoplasia ...	OMIM:308300
Okamoto Syndrome	Urinary incontinence, Abnormal left ventricle morphology, Abnormally large globe, Primum atrial s...	ORPHA:2729
Igg4-Related Ophthalmic Disease	Enlarged lacrimal glands, Prostatitis, Pancreatitis, Cholangitis, Lymphadenopathy, Abnormality of...	ORPHA:449563
Hallermann-Streiff Syndrome	Hyperactivity, Microphthalmia, Cryptorchidism	OMIM:234100
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Absent peripheral lymph nodes in pres...	OMIM:600802
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	Microphthalmia, Hypospadias, Bifid scrotum, Total anomalous pulmonary venous return, Clitoral hyp...	OMIM:609945
Nasopalpebral Lipoma-Coloboma Syndrome	Bilateral microphthalmos, Microphthalmia	ORPHA:2399
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Buphthalmos, Microphthalmia, Elevated circulating creatine kinase concentration	OMIM:613150
Microphthalmia/Coloboma 12	Optic nerve aplasia, Microphthalmia, Vesicoureteral reflux	OMIM:120200
Leptospirosis	Anorexia, Acute kidney injury, Jaundice, Hepatomegaly, Lymphadenopathy, Cellular urinary casts, P...	ORPHA:509
Multiple Endocrine Neoplasia Type 2	Elevated circulating parathyroid hormone level, Elevated urinary catecholamine level, Elevated ur...	ORPHA:653
Acquired Methemoglobinemia	Methemoglobinemia	ORPHA:464453
Immunodeficiency 55	Absent natural killer cells, Neutropenia, Lymphadenopathy, Lymphopenia	OMIM:617827
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Microphthalmia	OMIM:617306
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Hypospadias, Patent foramen ovale, Ventricular septal defect, Diabetes mellitus, Abnormal heart m...	ORPHA:500159
Roberts Syndrome	Clitoral hypertrophy, Microphthalmia, Long penis, Polycystic kidney dysplasia, Thrombocytopenia, ...	ORPHA:3103
Cousin Syndrome	Ambiguous genitalia, male, Microphthalmia, Hydronephrosis, Ambiguous genitalia, female	OMIM:260660
Incontinentia Pigmenti	Attention deficit hyperactivity disorder, Eosinophilia, Microphthalmia, Supernumerary nipple	ORPHA:464
Pierson Syndrome	Microphthalmia, Hypoplasia of the ciliary body, Hypoproteinemia, Hypoplasia of the iris, Nephroti...	OMIM:609049
Yunis-Varon Syndrome	Clitoral hypertrophy, Microphthalmia, Bilateral microphthalmos, Hypospadias, Renal artery stenosi...	ORPHA:3472
Skin Creases, Congenital Symmetric Circumferential, 1	Microphthalmia, Hypoplastic nipples	OMIM:156610
Familial Exudative Vitreoretinopathy	Microphthalmia	ORPHA:891
Primary Sjögren Syndrome	Normocytic anemia, Vaginal dryness, Lymphadenopathy, Normochromic anemia, Chronic active hepatiti...	ORPHA:289390
Basal Cell Nevus Syndrome 1	Microphthalmia, Cardiac rhabdomyoma, Ovarian fibroma, Cardiac fibroma, Ovarian carcinoma	OMIM:109400
Microphthalmia/Coloboma 9	Microphthalmia	OMIM:615145
Pelvis-Shoulder Dysplasia	Ambiguous genitalia, Bilateral microphthalmos, Hydronephrosis	ORPHA:2839
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Acro-Renal-Ocular Syndrome	Microphthalmia, Optic disc hypoplasia, Vesicoureteral reflux, Tetralogy of Fallot, Bladder divert...	ORPHA:959
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Bilateral microphthalmos, Hypospadias, Unilateral renal agenesis, Pelvic kidney, Optic nerve hypo...	ORPHA:468631
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Optic nerve hypoplasia, Microphthalmia, Elevated circulating creatine kinase concentration	OMIM:614643
Frontorhiny	Hypopituitarism, Microphthalmia, Diabetes insipidus	ORPHA:391474
Rothmund-Thomson Syndrome, Type 2	Annular pancreas, Cryptorchidism, Hypogonadism, Microphthalmia	OMIM:268400
Hallermann-Streiff Syndrome	Hypothyroidism, Microphthalmia, Cryptorchidism, Abdominal situs inversus	ORPHA:2108
Mycophenolate Mofetil Embryopathy	Microphthalmia, Ventricular septal defect, Ectopic kidney	ORPHA:268249
Steinert Myotonic Dystrophy	Obsessive-compulsive trait, Decreased fertility, Decreased response to growth hormone stimulation...	ORPHA:273
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Lymphadenopathy, Hepatosplenomegaly, Anemia	ORPHA:85408
Systemic Lupus Erythematosus	Anorexia, Hematuria, Lymphadenopathy, Pyuria, Thrombocytopenia, Leukopenia, Proteinuria, Hemolyti...	ORPHA:536
Ectodermal Dysplasia-Blindness Syndrome	Microphthalmia	ORPHA:1806
Blau Syndrome	Abnormal salivary gland morphology, Anemia, Lymphadenopathy, Pericarditis, Splenomegaly, Abnormal...	ORPHA:90340
Lymphedema-Distichiasis Syndrome	Microphthalmia, Ventricular septal defect, Tetralogy of Fallot	OMIM:153400
African Trypanosomiasis	Myocarditis, Abnormality of renin-angiotensin system, Jaundice, Hepatomegaly, Lymphadenopathy, Ur...	ORPHA:3385
8Q24.3 Microdeletion Syndrome	Bilateral microphthalmos, Atrioventricular canal defect, Unilateral renal agenesis, Hyperactivity...	ORPHA:508488
Fontaine Progeroid Syndrome	Bicuspid aortic valve, Microphthalmia, Hypoplastic nipples, Absent nipple, Abnormal heart morphol...	OMIM:612289
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Microphthalmia, Urinary incontinence, Bifid scrotum, Pulmonic stenosis, Aortic valve stenosis, Ab...	ORPHA:261537
Myhre Syndrome	Microphthalmia, Ventricular septal defect, Aortic valve stenosis, Pericardial effusion, Atrial se...	OMIM:139210
Oculodentodigital Dysplasia, Autosomal Recessive	Microphthalmia	OMIM:257850
Monosomy 9P	Microphthalmia, Hypospadias, Ureteropelvic junction obstruction, Ambiguous genitalia, Cryptorchidism	ORPHA:261112
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Absent gallbladder, Overriding aorta, Microphthalmia, Tetralogy of Fallot	ORPHA:3186
Roberts-Sc Phocomelia Syndrome	Clitoral hypertrophy, Enlarged labia minora, Microphthalmia, Hypospadias, Long penis, Accessory s...	OMIM:268300
Skin Creases, Congenital Symmetric Circumferential, 2	Microphthalmia, Hypospadias, Ureterocele, Small scrotum, Cryptorchidism	OMIM:616734
Mowat-Wilson Syndrome	Microphthalmia, Urinary incontinence, Bifid scrotum, Pulmonic stenosis, Aortic valve stenosis, Ab...	ORPHA:2152
Craniofacial Microsomia 1	Microphthalmia, Ectopic kidney, Anophthalmia, Vesicoureteral reflux, Ureteropelvic junction obstr...	OMIM:164210
Nance-Horan Syndrome	Microphthalmia	OMIM:302350
Igg4-Related Dacryoadenitis And Sialadenitis	Enlarged lacrimal glands, Abnormal salivary gland morphology, Lymphadenopathy, Thyroiditis, Abnor...	ORPHA:79078
Johanson-Blizzard Syndrome	Clitoral hypertrophy, Primary hypothyroidism, Ascites, Urethrovaginal fistula, Splenomegaly, Sept...	OMIM:243800
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Microphthalmia, Hypotriglyceridemia	ORPHA:85167
Oculodentodigital Dysplasia	Atrial septal defect, Neurogenic bladder, Microphthalmia	OMIM:164200
Microcephaly-Micromelia Syndrome	Microphthalmia	OMIM:251230
Oculopalatocerebral Syndrome	Microphthalmia	OMIM:257910
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Microphthalmia, Supernumerary nipple	ORPHA:1236
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Microphthalmia, Urinary incontinence, Bifid scrotum, Pulmonic stenosis, Aortic valve stenosis, Ab...	ORPHA:261552
Premature Aging Syndrome, Penttinen Type	Elevated circulating thyroid-stimulating hormone concentration, Microphthalmia	OMIM:601812
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Generalized lymphadenopathy	OMIM:620232
Aicardi Syndrome	Hepatoblastoma, Microphthalmia, Precocious puberty, Delayed puberty	ORPHA:50
Norrie Disease	Delayed puberty, Microphthalmia, Erectile dysfunction, Aplasia/Hypoplasia of the lens, Cryptorchi...	ORPHA:649
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Microphthalmia, Increased hepatic echogenicity	OMIM:608940
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Microphthalmia	OMIM:618727
Persistent Hyperplastic Primary Vitreous	Phthisis bulbi, Microphthalmia, Buphthalmos, Macular hypoplasia	ORPHA:91495
X-Linked Intellectual Disability, Snyder Type	Ectopic kidney, Hypospadias, Abnormality of the Leydig cells, Cryptorchidism, Testicular atrophy	ORPHA:3063
Treacher Collins Syndrome 1	Bilateral microphthalmos, Abnormal parotid gland morphology, Cryptorchidism, Abnormal heart morph...	OMIM:154500
Holoprosencephaly 1	Microphthalmia, Diabetes insipidus, Adrenal hypoplasia, Micropenis, Single ventricle	OMIM:236100
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Phthisis bulbi, Microphthalmia, Buphthalmos	OMIM:221900
Xeroderma Pigmentosum, Complementation Group D	Microphthalmia	OMIM:278730
Mowat-Wilson Syndrome	Microphthalmia, Hypospadias, Bifid scrotum, Ventricular septal defect, Pulmonic stenosis, Abnorma...	OMIM:235730
Aicardi Syndrome	Hepatoblastoma, Microphthalmia, Precocious puberty	OMIM:304050
Witteveen-Kolk Syndrome	Decreased response to growth hormone stimulation test, Microphthalmia, Hypospadias, Hyperactivity...	OMIM:613406
Linear Nevus Sebaceus Syndrome	Adenoma sebaceum, Microphthalmia	ORPHA:2612
Momo Syndrome	Bilateral microphthalmos	ORPHA:2563
Oculoauricular Syndrome	Microphakia, Phthisis bulbi, Microphthalmia, Macular hypoplasia	OMIM:612109
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Perimembranous ventricular septal defect, Transposition of the great arteries, Muscular ventricul...	OMIM:612474
Neu-Laxova Syndrome 1	Microphthalmia, Transposition of the great arteries, Patent foramen ovale, Cryptorchidism, Bifid ...	OMIM:256520
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Microphthalmia	ORPHA:364577
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Microphthalmia, Ventricular septal hypertrophy, Ventricular septal defect	OMIM:608670
Curry-Jones Syndrome	Microphthalmia	OMIM:601707
Alström Syndrome	Hypertriglyceridemia, Urinary incontinence, Precocious puberty in females, Primary hypothyroidism...	ORPHA:64
Osteoporosis-Pseudoglioma Syndrome	Phthisis bulbi, Microphthalmia, Ventricular septal defect	OMIM:259770
Acrofrontofacionasal Dysostosis 1	Microphthalmia	OMIM:201180
Oculo-Palato-Cerebral Syndrome	Microphthalmia	ORPHA:2714
Plague	Anorexia, Hepatomegaly, Lymphadenitis, Splenomegaly, Enlarged mesenteric lymph node, Endocarditis	ORPHA:707
Traboulsi Syndrome	Microphthalmia, Homocystinuria	OMIM:601552
Holoprosencephaly 7	Bilateral microphthalmos, Microphthalmia, Panhypopituitarism	OMIM:610828
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Buphthalmos, Microphthalmia, Hypoplasia of the retina, Elevated circulating creatine kinase conce...	OMIM:253280
Neuroocular Syndrome	Microphthalmia, Patent foramen ovale, Hypoplasia of the fovea, Lens coloboma, Attention deficit h...	OMIM:619539
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Microphthalmia, Tetralogy of Fallot	ORPHA:306542
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Microphthalmia, Elevated circulating creatine kinase concentration, Hemolytic anemia, Hypoplasia ...	OMIM:175780
Isolated Arrhinia	Microphthalmia	ORPHA:1134
Chikungunya	Cervical lymphadenopathy, Lymphadenopathy	ORPHA:324625
Adenocarcinoma Of The Anal Canal	Neoplasm of the liver, Lymphadenopathy	ORPHA:424016
Holoprosencephaly 2	Microphthalmia, Anterior pituitary agenesis, Diabetes insipidus, Adrenal hypoplasia, Single ventr...	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
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
Small intestine - 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

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IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

Histopathology

Gross Morphology Embryo E9.5

Human diseases caused by Rac1 mutations

Histopathology

IMPC related publications

Order Mouse and ES Cells

The IMPC Newsletter

Access Data Release 21.0 Data