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Gene: Gp2 MGI:1914383

Gene Summary

Name:

glycoprotein 2 zymogen granule membrane

Synonyms:

2310037I18Rik

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
enlarged seminal vesicle	Gp2^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal adrenal gland morphology	Gp2^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal skin morphology	Gp2^em1(IMPC)Mbp	HOM	Late adult	0.00
absent seminal vesicle	Gp2^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal heart morphology	Gp2^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal lymph node morphology	Gp2^em1(IMPC)Mbp	HOM	Late adult	0.00
enlarged spleen	Gp2^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal eye morphology	Gp2^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal kidney morphology	Gp2^em1(IMPC)Mbp	HOM	Late adult	0.00
anophthalmia	Gp2^em1(IMPC)Mbp	HOM	Early adult	0.00
small heart	Gp2^em1(IMPC)Mbp	HOM	Late adult	0.00
microphthalmia	Gp2^em1(IMPC)Mbp	HOM	Late adult	0.00
small kidney	Gp2^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal spleen morphology	Gp2^em1(IMPC)Mbp	HOM	Late adult	0.00
enlarged lymph nodes	Gp2^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal liver morphology	Gp2^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal retina morphology	Gp2^em1(IMPC)Mbp	HOM	Early adult	1.55×10^-05
abnormal eye morphology	Gp2^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal seminal vesicle morphology	Gp2^em1(IMPC)Mbp	HOM	Late adult	0.00
thrombocytopenia	Gp2^em1(IMPC)Mbp	HOM	Late adult	1.83×10^-06

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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

60 Images

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X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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X-ray

XRay Images Whole Body Lateral Orientation

28 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Human diseases caused by Gp2 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 Gp2 (0 diseases)
Human diseases predicted to be associated with Gp2 (1205 diseases)

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

The table below shows human diseases predicted to be associated to Gp2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Microphthalmia, Isolated, With Coloboma 10	Microphthalmia, Optic pit, Anophthalmia, Chorioretinal coloboma	OMIM:616428
Retinal Dysplasia, Primary	Retinal dysplasia, Falciform retinal fold	OMIM:312550
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Hepatic Venoocclusive Disease With Immunodeficiency	Abnormality of the liver, Endocardial fibrosis, Absence of lymph node germinal center	OMIM:235550
Microphthalmia, Isolated, With Coloboma 5	Microphthalmia, Anophthalmia, Bilateral microphthalmos, Chorioretinal coloboma	OMIM:611638
Microphthalmia, Isolated 8	Retinal detachment, Anophthalmia, Optic nerve hypoplasia, Hypoplastic optic chiasm, Retinal colob...	OMIM:615113
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Fetal Cytomegalovirus Syndrome	Splenomegaly, Anemia, Hepatomegaly	ORPHA:294
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Splenomegaly, Hepatomegaly	ORPHA:2274
Pulmonary Nodular Lymphoid Hyperplasia	Mediastinal lymphadenopathy, Plasmacytosis, Follicular hyperplasia	ORPHA:60026
Hereditary Progressive Mucinous Histiocytosis	Mucinous histiocytosis, Lymphadenopathy	ORPHA:158025
Reticuloendotheliosis, X-Linked	Hepatosplenomegaly, Jaundice, Anemia, Lymphadenopathy	OMIM:312500
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Abnormal lymph node morphology	OMIM:136580
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency	Congenital adrenal hyperplasia, Increased circulating ACTH level	OMIM:613571
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia	OMIM:611038
Congenital Toxoplasmosis	Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Thrombocytopenia, Jaundice, Lymphadeno...	ORPHA:858
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Retinoschisis 1, X-Linked, Juvenile	Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula...	OMIM:312700
Exudative Vitreoretinopathy 7	Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration	OMIM:617572
Pigmented Nodular Adrenocortical Disease, Primary, 3	Increased circulating cortisol level, Adrenal hyperplasia	OMIM:614190
Squamous Cell Carcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99977
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen...	OMIM:615285
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:52416
Lipoid Congenital Adrenal Hyperplasia	Congenital adrenal hyperplasia, Adrenogenital syndrome	OMIM:201710
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia	ORPHA:231393
Sea-Blue Histiocyte Disease	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating...	OMIM:269600
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit...	ORPHA:444463
Exudative Vitreoretinopathy 3	Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold	OMIM:605750
Immunodeficiency 38 With Basal Ganglia Calcification	Lymphadenopathy	OMIM:616126
Gombo Syndrome	Microphthalmia, Abnormal heart morphology	OMIM:233270
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro...	OMIM:133180
Transaldolase Deficiency	Hepatosplenomegaly, Anemia, Biventricular hypertrophy, Abnormality of the clitoris, Cirrhosis, At...	ORPHA:101028
Beemer Lethal Malformation Syndrome	Ambiguous genitalia, Thrombocytopenia	OMIM:209970
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Splenomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutro...	OMIM:603552
Familial Drusen	Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid...	ORPHA:75376
Hyperaldosteronism, Familial, Type I	Adrenal hyperplasia, Hyperaldosteronism, Adrenogenital syndrome, Decreased circulating renin level	OMIM:103900
X-Linked Retinal Dysplasia	Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia	ORPHA:1852
Fryns Microphthalmia Syndrome	Microphthalmia, Anophthalmia	OMIM:600776
Microphthalmia, Syndromic 12	Microphthalmia, Cryptorchidism, Anophthalmia	OMIM:615524
Immunodeficiency 104	Hepatomegaly, Splenomegaly, T lymphocytopenia, Lymphadenopathy	OMIM:608971
Burkitt Lymphoma	Abnormality of the spleen, Abnormality of the pancreas, Abnormal lymph node morphology, Abnormali...	ORPHA:543
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly, 3-Methylglutaconic aciduria	OMIM:619813
Immunodeficiency 75 With Lymphoproliferation	Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, Folli...	OMIM:619126
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid	OMIM:206400
Thrombocytopenia 2	Leukocytosis, Thrombocytopenia	OMIM:188000
Hemochromatosis, Type 2B	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Cardiomyopathy, Hepatic fibrosis, Hypo...	OMIM:613313
Bilateral Striopallidodentate Calcinosis	Hepatomegaly, Abnormality of the liver, Thrombocytopenia	ORPHA:1980
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Abnormal cardiac septum morphology, Abnormal hemoglobin, Anemia	ORPHA:3319
Hypereosinophilic Syndrome, Idiopathic	Hepatomegaly, Eosinophilia, Splenomegaly, Endocardial fibrosis, Myeloproliferative disorder, Rest...	OMIM:607685
Beta-Thalassemia	Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Splenomegaly...	ORPHA:848
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Preeclampsia/Eclampsia 1	Elevated hepatic transaminase, Proteinuria, Thrombocytopenia	OMIM:189800
Immune Thrombocytopenia	Thrombocytopenia	OMIM:188030
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Splenomegaly, Anemia, Hepatomegaly	ORPHA:46532
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia	OMIM:610539
Aicardi-Goutieres Syndrome 3	Elevated hepatic transaminase, Thrombocytopenia, Hepatosplenomegaly	OMIM:610329
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Lymphadenopathy, Neph...	ORPHA:100024
Osteopetrosis, Autosomal Recessive 8	Hepatomegaly, Splenomegaly, Unilateral microphthalmos, Anemia, Thrombocytopenia	OMIM:615085
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly...	OMIM:615559
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Hepatomegaly, Ventricular septal defect, Ectopic kidney, Cryptorchidism, Microphthalmia, Cystic r...	OMIM:613730
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase...	OMIM:617514
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy	OMIM:618852
Exudative Vitreoretinopathy 2, X-Linked	Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Peripheral vitreous ...	OMIM:305390
Hemoglobin H Disease	Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Microphthalmia, Syndromic 5	Ectopic posterior pituitary, Anophthalmia, Retinal dystrophy, Optic nerve hypoplasia, Cryptorchid...	OMIM:610125
Niemann-Pick Disease, Type B	Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis, Anemia	OMIM:607616
Congenital Primary Aphakia	Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Retinal dysplasia, ...	ORPHA:83461
Gray Platelet Syndrome	Splenomegaly, Abnormality of thrombocytes, Thrombocytopenia	ORPHA:721
Congenital Rubella Syndrome	Hepatomegaly, Ventricular septal defect, Splenomegaly, Thrombocytopenia, Jaundice, Aplasia/Hypopl...	ORPHA:290
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Thrombocytosis, Anemia of ...	ORPHA:75564
Aicardi-Goutieres Syndrome 6	Splenomegaly, Hemolytic anemia, Thrombocytopenia, Hepatomegaly	OMIM:615010
Kerion Celsi	Lymphadenopathy	ORPHA:499
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Anemia, Hemophagocytosis, Thrombocytopenia	OMIM:613101
Oculocerebrocutaneous Syndrome	Microphthalmia, Cryptorchidism, Anophthalmia	OMIM:164180
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome	Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, My...	ORPHA:210136
Microphthalmia With Brain And Digit Anomalies	Anophthalmia, Retinal dystrophy, Cryptorchidism, Chorioretinal coloboma, Microphthalmia, Abnormal...	ORPHA:139471
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Fluctuating splenomegaly, Neutropenia i...	OMIM:619220
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Elevated hepatic transaminase, Pancytopenia, Hepatocellular carcinoma, Sp...	ORPHA:158057
Mmep Syndrome	Microphthalmia, Ventricular septal defect, Cryptorchidism	ORPHA:3434
Anencephaly 2	Anophthalmia	OMIM:619452
Bleeding Disorder, Platelet-Type, 9	Thrombocytopenia	OMIM:614200
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Pericardial...	OMIM:613011
Eosinophilia, Familial	Eosinophilia, Thrombocytopenia, Leukocytosis, Myocardial eosinophilic infiltration, Anemia	OMIM:131400
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Renal insufficiency, Splenomegaly, Anemia, Cardiomyopathy, Neutropenia, Pancreatiti...	ORPHA:79312
Transaldolase Deficiency	Hepatomegaly, Pancytopenia, Clitoral hypertrophy, Ventricular septal defect, Splenomegaly, Micron...	OMIM:606003
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Amegakaryocytic thrombocytopenia	ORPHA:71289
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion	OMIM:183350
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microphthalmia, Hepatomegaly	ORPHA:2432
Matthew-Wood Syndrome	Anophthalmia, Cryptorchidism, Renal hypoplasia, Aplasia/Hypoplasia of the pancreas, Horseshoe kid...	ORPHA:2470
Ras-Associated Autoimmune Leukoproliferative Disorder	Hepatomegaly, Pancytopenia, Hemolytic anemia, Follicular hyperplasia, Autoimmune thrombocytopenia...	OMIM:614470
Tyrosinemia Type 1	Acute hepatic failure, Hepatomegaly, Splenomegaly, Generalized aminoaciduria, Hepatocellular carc...	ORPHA:882
Autoimmune Polyendocrinopathy Type 1	Hypoparathyroidism, Adrenal hyperplasia, Primary adrenal insufficiency, Abnormal circulating calc...	ORPHA:3453
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Mediasti...	OMIM:300853
Aicardi-Goutieres Syndrome 4	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Thro...	OMIM:610333
Adenocarcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99976
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Cholestasis, Progressive Familial Intrahepatic, 12	Hepatomegaly, Proteinuria, Elevated circulating aspartate aminotransferase concentration, Splenom...	OMIM:620010
Familial Hyperaldosteronism Type Ii	Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ...	ORPHA:404
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:86893
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune throm...	OMIM:619375
Alpha-Heavy Chain Disease	Hepatomegaly, Splenomegaly, Lymphadenopathy, Ascites, Anemia	ORPHA:100025
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis	ORPHA:66661
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Genital ulcers, S...	OMIM:602450
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise...	OMIM:616217
Trimethylaminuria	Trimethylaminuria, Splenomegaly, Anemia, Neutropenia	OMIM:602079
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Elevated hepatic transaminase, Neutrophilia, Liver abscess, Abnormality of the pancreas, Abnormal...	ORPHA:54251
Kimura Disease	Eosinophilia, Abnormal salivary gland morphology, Lymphadenopathy, Follicular hyperplasia	ORPHA:482
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery...	OMIM:603902
Hemochromatosis, Type 2A	Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Dilated cardiomyopathy, Azoospermia, C...	OMIM:602390
Babesiosis	Hemolytic anemia, Hepatomegaly, Renal insufficiency, Splenomegaly, Jaundice, Leukopenia, Hepatic ...	ORPHA:108
Autoimmune Lymphoproliferative Syndrome, Type Iia	Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, F...	OMIM:603909
Hyperbilirubinemia, Shunt, Primary	Hepatomegaly, Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid...	OMIM:237800
Neonatal Lupus Erythematosus	Elevated hepatic transaminase, Hemolytic anemia, Hepatomegaly, Pancytopenia, Aplastic anemia, Spl...	ORPHA:398124
Immunodeficiency 76	Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia	OMIM:619164
Congenital Disorder Of Glycosylation, Type Ik	Splenomegaly, Hypogonadism, Cardiomyopathy, Hepatomegaly	OMIM:608540
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt...	OMIM:615513
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Hepatoportal Sclerosis	Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Hy...	ORPHA:64743
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Hepatomegaly	OMIM:619175
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Increased mean platelet volu...	OMIM:314050
Portal Hypertension, Noncirrhotic, 2	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasi...	OMIM:619463
Fanconi Anemia, Complementation Group G	Anemia, Neutropenia, Microphthalmia, Leukemia, Thrombocytopenia	OMIM:614082
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Abnormality of thrombocytes, Splenomegaly, Leukocytos...	OMIM:612840
Familial Hyperaldosteronism Type I	Adrenal hyperplasia, Dexamethasone-suppressible primary hyperaldosteronism, Abnormal circulating ...	ORPHA:403
Leishmaniasis	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Spleno...	ORPHA:507
Preeclampsia	Elevated hepatic transaminase, Proteinuria, Chronic kidney disease, Polycystic ovaries, Abnormali...	ORPHA:275555
Thrombocytopenia 7	Reduced platelet alpha granules, Impaired ristocetin-induced platelet aggregation, Impaired ADP-i...	OMIM:619130
Walker-Warburg Syndrome	Retinal detachment, Anophthalmia, Retinal dystrophy, Chorioretinal dysplasia, Cryptorchidism, Opt...	ORPHA:899
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ...	ORPHA:846
Cholesteryl Ester Storage Disease	Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio...	OMIM:278000
Congenital Fibrinogen Deficiency	Hemorrhagic ovarian cyst, Splenic rupture, Left ventricular hypertrophy, Microphthalmia, Micropen...	ORPHA:335
Hypertriglyceridemia, Transient Infantile	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic steatosis	OMIM:614480
Thiamine-Responsive Megaloblastic Anemia Syndrome	Sideroblastic anemia, Ventricular septal defect, Situs inversus totalis, Thiamine-responsive mega...	OMIM:249270
Sea-Blue Histiocytosis	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia	ORPHA:158029
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Fulminant hepatitis, Lymphadenopathy, ...	OMIM:308240
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Adrenal hyperplasia, Adrenogenital syndrome	OMIM:201910
Retinitis Pigmentosa 13	Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce...	OMIM:600059
Galactosemia Iii	Hepatomegaly, Splenomegaly, Jaundice, Aminoaciduria, Galactosuria	OMIM:230350
Heme Oxygenase 1 Deficiency	Hemolytic anemia, Hepatomegaly, Proteinuria, Elevated circulating aspartate aminotransferase conc...	OMIM:614034
Lymphoproliferative Syndrome 3	Hepatosplenomegaly, Reduced natural killer cell count, Lymphadenopathy	OMIM:618261
Follicular Lymphoma	Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:545
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Hypoplasia of penis, Hypospadias, Splenomegaly, Abnormality of the ureter, Ascites, Anemia	ORPHA:1046
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis	OMIM:118830
Fetal Parvovirus Syndrome	Thrombocytopenia, Hypertrophic cardiomyopathy, Ascites, Anemia	ORPHA:295
Meckel Syndrome, Type 8	Microphthalmia, Anophthalmia	OMIM:613885
Galactose Epimerase Deficiency	Splenomegaly, Jaundice, Aminoaciduria, Hepatomegaly	ORPHA:79238
Diffuse Neonatal Hemangiomatosis	Hepatomegaly, Renal insufficiency, Abnormal vagina morphology, Anemia, Ascites, Thrombocytopenia	ORPHA:2123
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Absence of lymph node g...	OMIM:619924
Primary Myelofibrosis	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Splenomegaly, Leuk...	ORPHA:824
Immunodeficiency With Hyper-Igm, Type 5	Epididymitis, Lymphadenopathy	OMIM:608106
Immunodeficiency 27A	Splenomegaly, Leukocytosis, Enlarged mesenteric lymph node, Lymphadenopathy, Hepatosplenomegaly, ...	OMIM:209950
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Lymphocytosis, Hepatomegaly	OMIM:606445
Immunodeficiency 91 And Hyperinflammation	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Neutrophilia, Membranoprolife...	OMIM:619644
3-Methylglutaconic Aciduria Type 4	Cardiomyopathy, 3-Methylglutaconic aciduria, Decreased liver function, Thrombocytopenia	ORPHA:67048
Xk Aprosencephaly Syndrome	Atrial septal defect, Microphthalmia, Ventricular septal defect, Abnormal external genitalia	ORPHA:3469
Microphthalmia, Isolated 4	Microphthalmia, Absent testis	OMIM:613094
Neonatal Severe Primary Hyperparathyroidism	Splenomegaly, Aminoaciduria, Hepatomegaly	ORPHA:417
Anemia, Congenital Dyserythropoietic, Type Ii	Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis	OMIM:224100
Immunodeficiency 16	Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia	OMIM:615593
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Thrombocytopenia	OMIM:166990
Immunodeficiency 69	Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia	OMIM:618963
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency	Adrenal hyperplasia, Adrenogenital syndrome	OMIM:202110
Rhabdoid Tumor	Lymphadenopathy, Hematuria, Neoplasm of the liver, Anemia, Thrombocytopenia	ORPHA:69077
Trisomy 13	Anophthalmia, Abnormal retinal vascular morphology, Cryptorchidism, Optic atrophy, Aplasia/Hypopl...	ORPHA:3378
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmune thrombocytopenia, Follicular hyp...	OMIM:619846
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c...	OMIM:619658
Gaucher Disease, Type Iii	Splenomegaly, Pancytopenia, Thrombocytopenia, Hepatomegaly	OMIM:231000
Amegakaryocytic Thrombocytopenia, Congenital, 1	Amegakaryocytic thrombocytopenia, Pancytopenia, Thrombocytopenia	OMIM:604498
Atypical Hemolytic Uremic Syndrome	Proteinuria, Hematuria, Microangiopathic hemolytic anemia, Acute kidney injury, Thrombocytopenia	ORPHA:2134
Congenital Bile Acid Synthesis Defect Type 1	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, C...	ORPHA:79301
Acth-Independent Macronodular Adrenal Hyperplasia	Adrenal hyperplasia, Decreased circulating ACTH concentration, Increased circulating cortisol lev...	OMIM:219080
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, Intermitte...	OMIM:150550
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Anophthalmia	ORPHA:411986
Granulomatous Slack Skin	Nephrocalcinosis, Acute kidney injury, Abnormal lymph node morphology	ORPHA:33111
Gaucher Disease Type 1	Hepatomegaly, Pancytopenia, Proteinuria, Hypersplenism, Splenomegaly, Thrombocytopenia, Pericardi...	ORPHA:77259
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Goiter, Nodular goiter, Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology	ORPHA:97290
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Lymphadenopathy, Acute leuke...	ORPHA:3226
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased proportion of memory T cells, Hepatosplenomegaly, Increased B cell count, Lymphadenopathy	OMIM:618982
Familial Papillary Or Follicular Thyroid Carcinoma	Goiter, Nodular goiter, Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology	ORPHA:319487
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Microcytic anemia, Dilated cardiomyopathy, Elevated circulating alanine aminotransf...	OMIM:618805
Forsythe-Wakeling Syndrome	Nephrotic syndrome, Thrombocytopenia	OMIM:613606
Congenital Disorder Of Glycosylation, Type Iik	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hemolytic-uremic syn...	OMIM:614727
Refractory Anemia	Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm...	ORPHA:98826
Nephrotic Syndrome, Type 7	Hemolytic anemia, Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrom...	OMIM:615008
Amyloidosis, Familial Visceral	Hepatomegaly, Proteinuria, Splenomegaly, Cholestasis, Hematuria, Nephrotic syndrome, Nephropathy	OMIM:105200
Anemia, Congenital Dyserythropoietic, Type Ib	Hepatomegaly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund...	OMIM:615631
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenome...	OMIM:616860
Schnitzler Syndrome	Hepatomegaly, Splenomegaly, Leukocytosis, Lymphadenopathy, Anemia	ORPHA:37748
Thrombocythemia 1	Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre...	OMIM:187950
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Progressive Familial Intrahepatic Cholestasis	Hepatomegaly, Abnormality of thrombocytes, Splenomegaly, Jaundice, Cholestasis	ORPHA:172
Griscelli Syndrome	Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Leu...	ORPHA:381
Desmoplastic Small Round Cell Tumor	Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Testicular neoplasm, Medi...	ORPHA:83469
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, F...	OMIM:601859
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundi...	OMIM:619868
Immunodeficiency 54	Hepatomegaly, Splenomegaly, Adrenocorticotropic hormone excess, Lymphadenopathy, Reduced natural ...	OMIM:609981
Solitary Median Maxillary Central Incisor	Microphthalmia, Anterior hypopituitarism, Anophthalmia, Decreased response to growth hormone stim...	OMIM:147250
Adams-Oliver Syndrome 4	Atrial septal defect, Microphthalmia, Ventricular septal defect	OMIM:615297
Congenital Disorder Of Glycosylation, Type Iio	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Copper accumulation in liver, Hepatosp...	OMIM:616828
Gamma-Heavy Chain Disease	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto...	ORPHA:100026
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Splenomegaly, Fetal ascites, Hepatomegaly	OMIM:619462
Biemond Syndrome Type 2	Hypogonadism, Microphthalmia, Hypogonadotropic hypogonadism, Hypospadias	ORPHA:141333
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo...	OMIM:619041
Aggressive Systemic Mastocytosis	Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, Leukocytosis, Lymphadenopathy...	ORPHA:98850
Hemochromatosis, Type 1	Elevated hepatic transaminase, Hepatomegaly, Hypogonadotropic hypogonadism, Cardiomegaly, Splenom...	OMIM:235200
Microcephaly-Microcornea Syndrome, Seemanova Type	Microphthalmia, Hypogonadism	ORPHA:2528
Immunodeficiency 48	Absence of CD8-positive T cells, Splenomegaly, Hepatomegaly	OMIM:269840
Castleman Disease	Renal insufficiency, Generalized lymphadenopathy, Abdominal mass, Follicular hyperplasia, Mediast...	ORPHA:160
Renal-Hepatic-Pancreatic Dysplasia 1	Asplenia, Hepatic fibrosis, Atrial septal defect, Hepatomegaly, Portal hypertension, Malformation...	OMIM:208540
Wt Limb-Blood Syndrome	Pancytopenia, Cryptorchidism, Leukemia, Hypoplastic anemia, Thrombocytopenia	OMIM:194350
Hurler-Scheie Syndrome	Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Splenomegaly, Cardiomy...	ORPHA:93476
Macrophage Activation Syndrome	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Thromb...	ORPHA:158061
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Intermittent jaundice, Reticulocytosis	OMIM:179700
Bone Marrow Failure Syndrome 2	Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia	OMIM:615715
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ...	OMIM:619802
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Azoospermia, Hypogonadism, Poikilo...	OMIM:615234
Pfapa Syndrome	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:42642
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B...	ORPHA:1414
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone...	OMIM:301078
Immunodeficiency 42	Splenomegaly, Hypoplasia of the thymus, Hepatomegaly	OMIM:616622
Thyrocerebrorenal Syndrome	Renal insufficiency, Euthyroid goiter, Nephritis, Thrombocytopenia	ORPHA:3327
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Cold Agglutinin Disease	Hepatomegaly, Abnormal urinary color, Hemolytic anemia, Splenomegaly, Lymphadenopathy	ORPHA:56425
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop...	OMIM:603554
Immunodeficiency 10	Hypoplasia of the iris, Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy	OMIM:612783
Splenoportal Vascular Anomalies	Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites	OMIM:271500
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Hypereosinophilia, Lymphadenopathy, Abnormal proportion of CD8-positive T ...	OMIM:212050
Hereditary Amyloidosis With Primary Renal Involvement	Hepatomegaly, Renal insufficiency, Primary testicular failure, Proteinuria, Nocturia, Abnormal ly...	ORPHA:85450
Lymphoproliferative Syndrome 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, H...	OMIM:615122
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Bile Acid Synthesis Defect, Congenital, 5	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de...	OMIM:616278
Generalized Eruptive Histiocytosis	Histiocytosis, Leukemia, Hypereosinophilia, Lymphadenopathy	ORPHA:157991
Vitamin B12-Unresponsive Methylmalonic Acidemia	Hepatomegaly, Macrocytic anemia, Renal insufficiency, Anemia, Leukopenia, Cardiomyopathy, Pancrea...	ORPHA:27
Noonan Syndrome 12	Ventricular septal defect, Decreased response to growth hormone stimulation test, Tetralogy of Fa...	OMIM:618624
Microphthalmia, Isolated, With Coloboma 6	Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Immunodeficiency 32B	Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Thrombocytopenia, Impaired oxidative burs...	OMIM:226990
Kaposiform Lymphangiomatosis	Pancreatic cysts, Splenomegaly, Thrombocytopenia, Abnormality of the lymphatic system, Pericardia...	ORPHA:464329
Pigmented Nodular Adrenocortical Disease, Primary, 4	Primary hypercortisolism, Increased circulating cortisol level, Diabetes mellitus, Adrenal hyperp...	OMIM:615830
Indolent Systemic Mastocytosis	Hepatomegaly, Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytos...	ORPHA:98848
Immunodeficiency, Common Variable, 2	Hepatomegaly, Splenomegaly, Follicular hyperplasia, Lymphadenopathy	OMIM:240500
Osteopetrosis, Autosomal Recessive 4	Hepatomegaly, Reticulocytosis, Splenomegaly, Thrombocytopenia, Anemia	OMIM:611490
Congenital Disorder Of Glycosylation, Type Iil	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Ventricular septal defect, Unilateral ...	OMIM:614576
Gracile Bone Dysplasia	Asplenia, Micropenis, Aniridia, Microphthalmia, Hypoplastic spleen, Ascites	OMIM:602361
Cholestasis, Progressive Familial Intrahepatic, 3	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Po...	OMIM:602347
Pontocerebellar Hypoplasia, Type 15	Thrombocytopenia, Chronic neutropenia, Anemia	OMIM:619302
Pseudo-Torch Syndrome 3	Proteinuria, Cardiomegaly, Lymphadenitis, Leukocytosis, Acute kidney injury, Congenital thrombocy...	OMIM:618886
Phosphoglycerate Dehydrogenase Deficiency	Decreased testicular size, Thrombocytopenia, Megaloblastic anemia	OMIM:601815
Fanconi Anemia, Complementation Group F	Decreased response to growth hormone stimulation test, Thrombocytopenia, Cryptorchidism, Vesicour...	OMIM:603467
Wilson Disease	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Thrombocytopeni...	ORPHA:905
Adams-Oliver Syndrome 6	Ventricular septal defect, Portal hypertension, Splenomegaly, Renal hypoplasia, Hepatic fibrosis,...	OMIM:616589
Neurooculocardiogenitourinary Syndrome	Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Atrial septal defect, Micropht...	OMIM:618652
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Decreased circulating cortisol level, Bilateral cryptorchidism, Male hypogonadism, Decreased circ...	ORPHA:90793
Classic Mycosis Fungoides	Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy	ORPHA:2584
Dyskeratosis Congenita, Autosomal Recessive 2	Pancytopenia, Bone marrow hypocellularity, Cirrhosis, Testicular atrophy, Thrombocytopenia	OMIM:613987
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Elevated hepatic transaminase, Giant cell hepatitis, Ventricular septal defect, Hepatic melanin-l...	OMIM:208085
Tularemia	Abnormal nasopharyngeal adenoid morphology, Leukocytosis, Cervical lymphadenopathy, Mediastinal l...	ORPHA:3392
Malaria	Anemia, Acute kidney injury, Thrombocytopenia	ORPHA:673
Familial Hyperaldosteronism Type Iii	Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperplasia, Dexamethasone-suppres...	ORPHA:251274
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Absence of lymph node germinal center	OMIM:608184
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Decreased CD4:CD8 ratio	OMIM:618495
Immunodeficiency 109 With Lymphoproliferation	Splenomegaly, Pancytopenia, Generalized lymphadenopathy, Absent circulating B cells	OMIM:620282
Microphthalmia, Isolated, With Coloboma 4	Microphthalmia	OMIM:251505
Fetal Gaucher Disease	Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, Thrombocytopenia	ORPHA:85212
Boutonneuse Fever	Elevated hepatic transaminase, Renal insufficiency, Cervical lymphadenopathy, Lymphadenopathy, Le...	ORPHA:83313
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Splenomegaly, Reduced red cell py...	ORPHA:766
Stt3B-Cdg	Cryptorchidism, Micropenis, Small scrotum, Thrombocytopenia	ORPHA:370924
Hyperaldosteronism, Familial, Type Iii	Adrenal hyperplasia, Hyperaldosteronism, Decreased circulating renin level	OMIM:613677
Fanconi Anemia, Complementation Group E	Pancytopenia, Hypergonadotropic hypogonadism, Ectopic kidney, Cryptorchidism, Reticulocytopenia, ...	OMIM:600901
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia	OMIM:251700
Laryngeal Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy, Adrenocorticotropic hormone excess	ORPHA:100083
Isolated Agammaglobulinemia	Abnormality of the tonsils, Abnormality of neutrophils, Thrombocytopenia, Abnormality of the lymp...	ORPHA:229717
Felty Syndrome	Hepatomegaly, Pericarditis, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Bone marrow hypocell...	ORPHA:47612
Caroli Syndrome	Elevated hepatic transaminase, Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Port...	ORPHA:480520
Pontocerebellar Hypoplasia, Type 14	Chronic neutropenia, Thrombocytopenia	OMIM:619301
Immunodeficiency, Common Variable, 1	Hepatomegaly, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased propo...	OMIM:607594
Combined Immunodeficiency Due To Zap70 Deficiency	Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T...	ORPHA:911
Griscelli Syndrome Type 2	Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropenia	ORPHA:79477
Maternal Uniparental Disomy Of Chromosome 6	Hydrocele testis, Rod-cone dystrophy, Congenital adrenal hyperplasia, Increased serum testosteron...	ORPHA:96181
Microphthalmia, Syndromic 9	Anophthalmia, Truncus arteriosus, Ventricular septal defect, Cryptorchidism, Bilateral microphtha...	OMIM:601186
Amed Syndrome, Digenic	Acute myeloid leukemia, Anemia, Leukopenia, Hypoplasia of the uterus, Bone marrow hypocellularity...	OMIM:619151
Congenital Disorder Of Glycosylation, Type Ix	Cryptorchidism, Micropenis, Small scrotum, Thrombocytopenia	OMIM:615597
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatomegaly, Hepatic bridging fibrosis, Splenomegaly, Hepatic fibrosis, Hepatic failure	OMIM:616719
Sickle Cell Disease	Hemolytic anemia, Hepatomegaly, Renal insufficiency, Cardiomegaly, Splenomegaly, Splenic infarcti...	OMIM:603903
Bleeding Disorder, Platelet-Type, 16	Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Impaired platelet aggregat...	OMIM:187800
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia	OMIM:617441
Beta-Thalassemia Intermedia	Hypoparathyroidism, Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia...	ORPHA:231222
Activated Pi3K-Delta Syndrome	Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, B lymphocytopenia	ORPHA:397596
Cholestasis-Lymphedema Syndrome	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Neonatal cholesta...	OMIM:214900
Immunodeficiency 7	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut...	OMIM:615387
Rosaï-Dorfman Disease	Anemia, Lymphadenopathy	ORPHA:158014
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Lymphadenopathy	OMIM:617772
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy, Hypoplasia of the iris, Thrombocyt...	ORPHA:169090
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Eosinophilia, Glomerulonephritis, Autoimmune thrombocytopenia, Thrombocytopenia, Hepatitis, Lymph...	OMIM:304790
Fanconi Anemia, Complementation Group I	Ventricular septal defect, Optic nerve hypoplasia, Decreased response to growth hormone stimulati...	OMIM:609053
Gaucher Disease, Type I	Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Aortic valve stenosis, Thrombocy...	OMIM:230800
Transcobalamin Deficiency	Pancytopenia, Methylmalonic aciduria, Neutropenia, Lymphopenia, Acute kidney injury, Thrombocytop...	ORPHA:859
Hydrolethalus	Microphthalmia, Cryptorchidism, Anophthalmia	ORPHA:2189
Dehydrated Hereditary Stomatocytosis 2	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase...	OMIM:616689
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Portal hype...	ORPHA:79124
Harderoporphyria	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Increased urine harderoporphyrin level, Splenome...	OMIM:618892
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Hydrocele testis, Anemia, Neutropenia, Congenital thrombocytopenia, Thrombocytopenia	OMIM:616738
Fanconi Anemia, Complementation Group A	Pancytopenia, Hypergonadotropic hypogonadism, Ectopic kidney, Cryptorchidism, Reticulocytopenia, ...	OMIM:227650
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye...	ORPHA:2585
Roifman Syndrome	Hepatomegaly, Noncompaction cardiomyopathy, Ventricular septal defect, Eosinophilia, Splenomegaly...	OMIM:616651
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased circulating...	OMIM:615954
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr...	OMIM:251880
Familial Hemophagocytic Lymphohistiocytosis	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Thrombocytopenia, Jaundice, Lymphadeno...	ORPHA:540
Anophthalmia Plus Syndrome	Anophthalmia	ORPHA:1104
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Hepatomegaly, Renal insufficiency, Anemia, Renal tubular dysfunction, Neutropenia, Pancreatitis, ...	ORPHA:289916
Immunodeficiency 84	Splenomegaly, B lymphocytopenia	OMIM:619437
Congenital Disorder Of Glycosylation, Type Ih	Hepatomegaly, Cryptorchidism, Cholestasis, Anemia, Perimembranous ventricular septal defect, Decr...	OMIM:608104
Nanophthalmos	Microphthalmia	ORPHA:35612
Roifman Syndrome	Noncompaction cardiomyopathy, Hypogonadotropic hypogonadism, Eosinophilia, Lymphadenopathy, Hepat...	ORPHA:353298
Familial Cold Autoinflammatory Syndrome 2	Splenomegaly, Leukocytosis, Lymphadenopathy	OMIM:611762
Cog4-Cdg	Elevated hepatic transaminase, Fatal liver failure in infancy, Hepatosplenomegaly, Cirrhosis, Thr...	ORPHA:263501
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Hepatomegaly, Cor triatriatum, Intermittent thrombocytopenia, Secundum atrial septal defect, Sple...	OMIM:612541
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Splenomegaly, Anemia, Reduced natural killer cell count, Thrombocytopenia	OMIM:616050
Pseudo-Torch Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Splenomegaly, Jaundice, Decreas...	OMIM:251290
Bleeding Disorder, Platelet-Type, 24	Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat...	OMIM:619271
Mosaic Trisomy 9	Hypoplasia of penis, Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, As...	ORPHA:99776
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Splenomegaly, Pericarditis, Lymphadenopathy	ORPHA:85414
Caspase 8 Deficiency	Splenomegaly, Decreased CD4:CD8 ratio, Lymphadenopathy	OMIM:607271
Bleeding Disorder, Platelet-Type, 19	Thrombocytopenia, Macrothrombocytopenia, Anemia	OMIM:616176
Niemann-Pick Disease, Type A	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Bone-marrow foam cel...	OMIM:257200
Alpha-1-Antitrypsin Deficiency	Elevated hepatic transaminase, Splenomegaly, Cirrhosis, Hepatocellular carcinoma	OMIM:613490
Q Fever	Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Abnormal heart valve morphology, Peric...	ORPHA:781
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Splenomegaly, Portal hypertension, Hepatomegaly	OMIM:610293
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Hepatomegaly, Ketonuria, Renal hypoplasia, Microphthalmia, Hypertrophic cardiomyopathy	OMIM:619053
Oculogastrointestinal Neurodevelopmental Syndrome	Bicuspid aortic valve, Bilateral microphthalmos, Unilateral microphthalmos, Horseshoe kidney, Vag...	OMIM:619318
Joubert Syndrome 37	Hepatomegaly, Cryptorchidism, Hydronephrosis, Microphthalmia, Micropenis, Decreased testicular size	OMIM:619185
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N...	OMIM:235700
Portal Hypertension, Noncirrhotic, 1	Elevated hepatic transaminase, Splenomegaly, Portal hypertension, Hepatomegaly	OMIM:617068
Wolfram Syndrome, Mitochondrial Form	Sideroblastic anemia, Hydroureter, Megaloblastic anemia, Neutropenia, Hydronephrosis, Thrombocyto...	OMIM:598500
Cerebrooculofacioskeletal Syndrome 3	Microphthalmia	OMIM:616570
Neuraminidase Deficiency	Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Proteinuria, Bone-marrow foam cel...	OMIM:256550
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Splenomegaly, Intrah...	OMIM:619849
Fanconi Anemia, Complementation Group T	Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia	OMIM:616435
Fanconi Anemia, Complementation Group C	Pancytopenia, Hypergonadotropic hypogonadism, Ventricular septal defect, Ectopic kidney, Thromboc...	OMIM:227645
Pyruvate Kinase Deficiency Of Red Cells	Hepatomegaly, Decreased hemoglobin concentration, Reticulocytosis, Reduced red cell pyruvate kina...	OMIM:266200
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count...	OMIM:612690
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Microphthalmia, Cryptorchidism, Anophthalmia	ORPHA:77298
Acute Myelomonocytic Leukemia	Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia	ORPHA:517
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Ventricular septal defect, Unilateral renal agenesis, Cryptorchidism, Renal hypoplasia, Abnormal ...	OMIM:618494
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Leukocyte inclusion bodies, Giant platelets, Macrothrombocytopenia, Neutrophil inclusion bodies, ...	OMIM:155100
Wolfram Syndrome 1	Sideroblastic anemia, Neurogenic bladder, Hydroureter, Megaloblastic anemia, Cardiomyopathy, Test...	OMIM:222300
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anisocytosis, Anemia of inadequate production, Cryptorchidism, Macrothrombocytopenia, Poikilocyto...	ORPHA:67044
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia	OMIM:124900
Cofs Syndrome	Microphthalmia, Hypogonadism	ORPHA:1466
Immunodeficiency With Hyper-Igm, Type 3	Neutropenia, Absence of lymph node germinal center	OMIM:606843
Fish-Eye Disease	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:79292
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Hepatomegaly, Reticulocytosis, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc...	OMIM:194380
Immunodeficiency With Hyper-Igm, Type 1	Hemolytic anemia, Hepatomegaly, Absence of lymph node germinal center, Splenomegaly, Enlarged ton...	OMIM:308230
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Overriding aorta, Ventricular septal defect, ...	OMIM:617021
Pierpont Syndrome	Microphthalmia, Micropenis, Cryptorchidism	OMIM:602342
Nephroblastoma	Aniridia, Neoplasm of the liver, Hematuria, Lymphadenopathy	ORPHA:654
Ataxia-Pancytopenia Syndrome	Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto...	OMIM:159550
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Proteinuria, Splenomegaly, Thrombocytopenia, Leukopenia, Hypertrophic cardiomyopath...	OMIM:617303
Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	ORPHA:2717
Cholesteryl Ester Storage Disease	Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Hepatic failure	ORPHA:75234
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Elevated hepatic transaminase, Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoim...	ORPHA:331206
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Hepatomegaly, Decreased proportion of naive T cells, Jaundice, Lymph node hypoplasia, Abnormally ...	ORPHA:276
Platelet Signal Processing Defect	Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb...	OMIM:173590
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatitis, Hemophagocytosis	OMIM:300635
Thrombotic Thrombocytopenic Purpura	Reticulocytosis, Renal insufficiency, Proteinuria, Hematuria, Microangiopathic hemolytic anemia, ...	ORPHA:54057
Classic Hodgkin Lymphoma	Hepatomegaly, Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy	ORPHA:391
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Hemolytic anemia, Lymphopenia, Thrombocytopenia, Genital ulcers	OMIM:616744
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Intrah...	OMIM:613812
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Hepatomegaly, Abnormal dense granules, Splenomegaly, T...	OMIM:214500
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Absence of lymph node germinal center, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Absent ...	ORPHA:277
Dihydropyrimidine Dehydrogenase Deficiency	Microphthalmia, Uraciluria	OMIM:274270
Cyclic Neutropenia	Cyclic neutropenia, Cervical lymphadenopathy, Recurrent tonsillitis, Peritonitis, Lymphadenopathy...	ORPHA:2686
Cerebrooculonasal Syndrome	Anophthalmia	ORPHA:66625
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Cryptorchidism, Methylmalonic aciduria, Normochromic anemia, Neutropenia, Atrial septal defect, H...	OMIM:614857
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Elevated hepatic transaminase, Hepatomegaly, Hypospadias, Optic nerve hypoplasia, Ventricular sep...	OMIM:301056
Isovaleric Acidemia	Pancytopenia, Hyperglycinuria, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia	OMIM:243500
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Splenomegaly, Lymphadenitis, Recurrent tonsillitis, Lymphad...	OMIM:618935
X-Linked Sideroblastic Anemia	Elevated hepatic transaminase, Splenomegaly, Anemia	ORPHA:75563
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Cervical lymphadenopathy, B lymphocytopenia, Abnormally low T cell receptor excision circle level	OMIM:618987
Non-Involuting Congenital Hemangioma	Hepatic hemangioma, Thrombocytopenia	ORPHA:141179
Osteopetrosis, Autosomal Dominant 3	Splenomegaly, Hyperparathyroidism, Anemia, Hepatomegaly	OMIM:618107
Legionnaires Disease	Pericarditis, Renal insufficiency, Proteinuria, Splenomegaly, Jaundice, Myocarditis, Hepatitis, E...	ORPHA:549
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Ventricular septal defect, Splenomegaly, Chronic kidney disease, Cholestasis, Hepat...	OMIM:615630
Prolidase Deficiency	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hyperimidodipeptidur...	OMIM:170100
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Ventricular septal defect, Abnormally large globe, Splenomegaly, Pancreatic lymphan...	ORPHA:1655
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Ambiguous genitalia, Microphthalmia, Ventricular septal defect	ORPHA:93267
Thyrocerebroretinal Syndrome	Nephritis, Thrombocytopenia, Goiter	OMIM:274240
Atelis Syndrome 1	Ventricular septal defect, Anemia, Leukopenia, Atrial septal defect, Thrombocytopenia	OMIM:620184
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Lymphadenitis, Leukocytosis, Dilated c...	OMIM:615895
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatomegaly, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation te...	OMIM:602782
Lig4 Syndrome	Hepatomegaly, Pancytopenia, Hypoplasia of penis, Cryptorchidism, Leukocytosis, Acute leukemia, Ly...	ORPHA:99812
Adult-Onset Still Disease	Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Neutrophilia, Generalized lymphadenopa...	ORPHA:829
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple...	OMIM:613470
Cockayne Syndrome Type 2	Male hypogonadism, Anophthalmia, Cryptorchidism	ORPHA:90322
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Adrenal hyperplasia, Dexamethasone-suppressible primary hyperaldosteronism, Abnormal circulating ...	ORPHA:369929
Pierpont Syndrome	Microphthalmia, Cryptorchidism	ORPHA:487825
Folate Malabsorption, Hereditary	Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia	OMIM:229050
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Splenomegaly, Ne...	OMIM:613179
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
Warburg Micro Syndrome 1	Microphthalmia, External genital hypoplasia, Cryptorchidism	OMIM:600118
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Elevated hepatic transaminase, Severe B lymphocytopenia, Portal hypertension, T...	OMIM:620005
Mirage Syndrome	Hypospadias, Hypergonadotropic hypogonadism, Cryptorchidism, Anemia, Leukopenia, Microphallus, Sh...	OMIM:617053
B-Cell Expansion With Nfkb And T-Cell Anergy	Splenomegaly, Increased B cell count	OMIM:616452
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Anemia	ORPHA:163596
Primary Unilateral Adrenal Hyperplasia	Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperplasia, Decreased circulating...	ORPHA:231580
Microphthalmia With Limb Anomalies	Microphthalmia, Anophthalmia, Unilateral cryptorchidism	OMIM:206920
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Atrial septal defect, Vesicoureteral...	OMIM:301068
Systemic Lupus Erythematosus	Hemolytic anemia, Pericarditis, Lupus nephritis, Leukopenia, Nephritis, Thrombocytopenia	OMIM:152700
Thiamine-Responsive Megaloblastic Anemia Syndrome	Atrial septal defect, Ventricular septal defect, Thrombocytopenia, Megaloblastic anemia	ORPHA:49827
Nanophthalmos 4	Microphthalmia	OMIM:615972
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Lymphade...	ORPHA:169154
Fanconi Anemia, Complementation Group D2	Pancytopenia, Hypergonadotropic hypogonadism, Ectopic kidney, Thrombocytopenia, Cryptorchidism, R...	OMIM:227646
Pleural Mesothelioma	Hepatomegaly, Lymphadenopathy	ORPHA:50251
Propionic Acidemia	Hepatomegaly, Pancytopenia, Increased level of hippuric acid in urine, Hyperglycinuria, Anemia, C...	OMIM:606054
Cinca Syndrome	Eosinophilia, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Anemia	OMIM:607115
Rapidly Involuting Congenital Hemangioma	Hepatic hemangioma, Thrombocytopenia	ORPHA:141184
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis	OMIM:182900
Omenn Syndrome	Hepatomegaly, Eosinophilia, Splenomegaly, Leukocytosis, Lymphadenopathy, Nephrotic syndrome, Abno...	ORPHA:39041
Cernunnos-Xlf Deficiency	Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia	ORPHA:169079
Dyskeratosis Congenita, Autosomal Dominant 2	Urethral stricture, Pancytopenia, Aplastic anemia, Dilated cardiomyopathy, Leukopenia, Hepatic fi...	OMIM:613989
Agammaglobulinemia, X-Linked	Hepatocellular carcinoma, Enteroviral hepatitis, Epididymitis, Cor pulmonale, Lymph node hypoplas...	OMIM:300755
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Decreased circulating cortisol level, Increased circulating androstenedione concentration, Congen...	ORPHA:90791
Pseudomyxoma Peritonei	Abnormal peritoneum morphology, Ascites, Lymphadenopathy	ORPHA:26790
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Lymphadenopathy, B lymphocytopenia, Decreased proportion of memory B cel...	OMIM:618048
Gray Platelet Syndrome	Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Splenomegaly, ...	OMIM:139090
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Hematuria, Glomerulonephritis, Thrombocytopenia	OMIM:314000
Systemic Lupus Erythematosus 17	Leukopenia, Lymphopenia, Thrombocytopenia, Autoimmune thrombocytopenia	OMIM:301080
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Microphthalmia, Leukemia, Ventricular septal defect	OMIM:602501
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari...	ORPHA:101096
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Anophthalmia, Retinal dystrophy, Chorior...	ORPHA:2526
Bresek Syndrome	Optic nerve hypoplasia, Cryptorchidism, Renal hypoplasia, Vesicoureteral reflux, Microphthalmia, ...	ORPHA:85284
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Hepatomegaly, Stage 5 chronic kidney disease, Methylmalonic aciduria, Leukopenia, Cardiomyopathy,...	OMIM:251000
Bone Marrow Failure Syndrome 4	Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia	OMIM:618116
Hemophagocytic Lymphohistiocytosis, Familial, 2	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia, Jaundi...	OMIM:603553
Myh9-Related Disease	Elevated hepatic transaminase, Renal insufficiency, Proteinuria, Increased mean platelet volume, ...	ORPHA:182050
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Asymmetric septal h...	OMIM:252920
Meckel Syndrome	Accessory spleen, Ureteral duplication, Multicystic kidney dysplasia, Anophthalmia, Pancreatic fi...	ORPHA:564
American Trypanosomiasis	Hepatomegaly, Splenomegaly, Myocarditis, Lymphadenopathy, Cardiomyopathy	ORPHA:3386
Hypocomplementemic Urticarial Vasculitis	Hepatomegaly, Renal insufficiency, Abnormal heart valve morphology, Proteinuria, Pericardial effu...	ORPHA:36412
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc...	ORPHA:3202
Meckel Syndrome, Type 4	Ventricular septal defect, Renal cyst, Bile duct proliferation, Atrial septal defect, Microphthalmia	OMIM:611134
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenop...	OMIM:616100
Refsum Disease	Microphthalmia, Splenomegaly, Renal insufficiency, Cardiomyopathy	ORPHA:773
Mevalonic Aciduria	Elevated hepatic transaminase, Normocytic hypoplastic anemia, Fluctuating splenomegaly, Fluctuati...	OMIM:610377
Caroli Disease	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Splenomegaly, ...	ORPHA:53035
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Microphthalmia, Hypoplasia of penis, Hydroureter	ORPHA:2547
Pediatric Systemic Lupus Erythematosus	Dark urine, Lymphopenia, Renal insufficiency, Proteinuria, Pericardial effusion, Lymphadenopathy,...	ORPHA:93552
Immunodeficiency With Hyper-Igm, Type 2	Lymphadenopathy	OMIM:605258
Glycogen Storage Disease Ixc	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, In...	OMIM:613027
Sengers Syndrome	Hypertrophic cardiomyopathy, 3-Methylglutaconic aciduria, Thrombocytopenia	OMIM:212350
Linear Skin Defects With Multiple Congenital Anomalies 2	Atrial septal defect, Microphthalmia, Tetralogy of Fallot, Ventricular hypertrophy	OMIM:300887
Immunodeficiency 47	Accessory spleen, Normocytic anemia, Hepatomegaly, Elevated hepatic transaminase, Elevated circul...	OMIM:300972
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H...	ORPHA:731
Meacham Syndrome	Atrial septal defect, Hypoplasia of penis, Crossed fused renal ectopia, Ventricular septal defect...	ORPHA:3097
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe...	OMIM:263200
Trisomy 1Q	Cryptorchidism, Anophthalmia	ORPHA:261344
Mitochondrial Complex I Deficiency, Nuclear Type 20	Elevated hepatic transaminase, Dicarboxylic aciduria, Microvesicular hepatic steatosis, Dilated c...	OMIM:611126
Fanconi Anemia, Complementation Group J	Microphthalmia, Bone marrow hypocellularity	OMIM:609054
Roch-Leri Mesosomatous Lipomatosis	Thrombocytopenia	ORPHA:529
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia, Hypogonadism, External genital hypoplasia, Cryptorchidism	ORPHA:363741
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Increased mean platelet volume, Impaired ristocetin-induced platelet aggregatio...	OMIM:153670
Congenital Enterovirus Infection	Abnormal macrophage morphology, Fetal ascites, Pericardial effusion, Thrombocytopenia, Leukocytos...	ORPHA:292
Hereditary Spherocytosis	Hepatomegaly, Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Restri...	ORPHA:822
Wiskott-Aldrich Syndrome 2	Decreased proportion of CD8-positive T cells, Thrombocytopenia	OMIM:614493
Platelet Glycoprotein Iv Deficiency	Giant platelets, Thrombocytopenia	OMIM:608404
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Anophthalmia, Cryptorchidism, Abnormal vitreous humor morphology, Abnormal optic nerve morphology...	ORPHA:1101
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Lym...	OMIM:617591
Congenital Pulmonary Lymphangiectasia	Hepatomegaly, Splenomegaly, Chylopericardium, Pulmonic stenosis, Ascites	ORPHA:2414
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly...	ORPHA:98849
Intermediate Osteopetrosis	Thrombocytopenia, Anemia, Hepatosplenomegaly	ORPHA:210110
Developmental And Epileptic Encephalopathy 1	Microphthalmia, Micropenis	OMIM:308350
14Q22Q23 Microdeletion Syndrome	Optic nerve aplasia, Anophthalmia, Anterior pituitary hypoplasia, Adrenal hypoplasia, Cryptorchid...	ORPHA:264200
Mogs-Cdg	Hepatomegaly, Atrial septal defect, External genital hypoplasia, Cardiomegaly, Hepatosplenomegaly...	ORPHA:79330
Scrub Typhus	Myocarditis, Splenomegaly, Renal insufficiency, Lymphadenopathy	ORPHA:83317
Gaucher Disease Type 3	Hepatomegaly, Pancytopenia, Mitral valve calcification, Abnormal heart valve morphology, Proteinu...	ORPHA:77261
Stormorken Syndrome	Howell-Jolly bodies, Asplenia, Anemia, Hematuria, Hypoplastic spleen, Thrombocytopenia	OMIM:185070
Cockayne Syndrome Type 1	Anophthalmia, Cryptorchidism, Optic atrophy, Pigmentary retinopathy, Male hypogonadism	ORPHA:90321
X-Linked Agammaglobulinemia	Abnormality of the tonsils, Thrombocytopenia, Abnormality of the lymphatic system, Hepatitis, Neu...	ORPHA:47
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Microphthalmia	OMIM:616171
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Hematuria, Microphthalmia	OMIM:120433
Pseudo-Von Willebrand Disease	Intermittent thrombocytopenia	OMIM:177820
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hepatomegaly, Splenomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Leukopenia, Hemophagocyt...	OMIM:267700
Glycogen Storage Disease Ixb	Splenomegaly, Increased hepatic glycogen content, Hepatomegaly	OMIM:261750
Dk Phocomelia Syndrome	Thrombocytopenia	OMIM:223340
Subaortic Stenosis-Short Stature Syndrome	Microphthalmia, Biliary tract abnormality, Membranous subvalvular aortic stenosis, Subvalvular ao...	ORPHA:3191
Familial Pancreatic Carcinoma	Elevated hepatic transaminase, Pancreatic adenocarcinoma, Jaundice, Extrahepatic cholestasis, Lym...	ORPHA:1333
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Abnormal erythrocyte enzyme level, Splenomegaly, Hep...	ORPHA:264580
Lipodystrophy, Congenital Generalized, Type 3	Hepatomegaly, Splenomegaly, Hepatic steatosis, Hepatosplenomegaly	OMIM:612526
Seckel Syndrome 2	Microphthalmia, Hypospadias, Ectopic kidney	OMIM:606744
Braddock-Carey Syndrome 2	Microphthalmia, Thrombocytopenia	OMIM:619981
Cholestasis, Progressive Familial Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Cirrhosis,...	OMIM:211600
Pearson Syndrome	Decreased response to growth hormone stimulation test, Renal cyst, Abnormality of the liver, Neut...	ORPHA:699
Bernard-Soulier Syndrome	Impaired ristocetin-induced platelet aggregation, Giant platelets, Macrothrombocytopenia, Thrombo...	OMIM:231200
Ornithine Transcarbamylase Deficiency	Splenomegaly, Aminoaciduria, Hepatic failure	ORPHA:664
Noonan Syndrome 4	Ureteral duplication, Ventricular septal defect, Cryptorchidism, Pulmonic stenosis, Atrial septal...	OMIM:610733
Cinca Syndrome	Hepatomegaly, Abnormality of thrombocytes, Abnormality of neutrophils, Splenomegaly, Leukocytosis...	ORPHA:1451
2Q24 Microdeletion Syndrome	Microphthalmia	ORPHA:1617
Medullary Thyroid Carcinoma	Primary hyperparathyroidism, Abnormal liver parenchyma morphology, Lymphadenopathy, Pheochromocyt...	ORPHA:1332
Rere-Related Neurodevelopmental Syndrome	Ventricular septal defect, Hypospadias, Cryptorchidism, Abnormal heart morphology, Vesicoureteral...	ORPHA:494344
Bleeding Disorder, Platelet-Type, 15	Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume	OMIM:615193
Cat-Eye Syndrome	Microphthalmia, Hydronephrosis	ORPHA:195
Foveal Hypoplasia 2	Hypoplasia of the fovea, Microphthalmia	OMIM:609218
Dominant Beta-Thalassemia	Hypoparathyroidism, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentra...	ORPHA:231226
Fanconi Anemia, Complementation Group B	Aplastic anemia, Hypergonadotropic hypogonadism, Optic disc hypoplasia, Ventricular septal defect...	OMIM:300514
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	OMIM:248450
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Hepatomegaly, Pancytopenia, Megaloblastic anemia, Jaundice, Increased mean corpuscular volume, Th...	OMIM:613839
Immunodeficiency, Common Variable, 8, With Autoimmunity	Pancytopenia, Generalized lymphadenopathy, Autoimmune hemolytic anemia, Chronic neutropenia, Auto...	OMIM:614700
Sézary Syndrome	Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy	ORPHA:3162
Wilson Disease	Acute hepatic failure, Aminoaciduria, Hepatic steatosis, Hypoparathyroidism, Hepatomegaly, Hemoly...	OMIM:277900
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Giant platelet syndrome with thrombocytopenia	Giant platelets, Thrombocytopenia	OMIM:137560
Brucellosis	Hepatomegaly, Pericarditis, Liver abscess, Glomerulonephritis, Hypersplenism, Splenomegaly, Leuko...	ORPHA:1304
Aicardi-Goutieres Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Cardiomyopathy, Prolonged neonatal jau...	OMIM:225750
Microphthalmia, Syndromic 8	Microphthalmia, Cryptorchidism	OMIM:601349
Pseudo-Torch Syndrome 2	Elevated hepatic transaminase, Hepatomegaly, Secundum atrial septal defect, Abnormal renal cortic...	OMIM:617397
Kikuchi-Fujimoto Disease	Elevated hepatic transaminase, Hepatomegaly, Generalized lymphadenopathy, Splenomegaly, Cervical ...	ORPHA:50918
Adams-Oliver Syndrome	Abnormal pulmonary valve morphology, Portal hypertension, Congenital hepatic fibrosis, Tetralogy ...	ORPHA:974
Anemia, Sideroblastic, 5	Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia	OMIM:619523
Diffuse Cutaneous Mastocytosis	Hepatomegaly, Abnormality of the spleen, Lymphadenopathy, Abnormality of the liver, Lymphocytosis...	ORPHA:79456
Microphthalmia, Syndromic 3	Optic nerve aplasia, Anophthalmia, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, ...	OMIM:206900
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Adrenal hyperplasia, Cryptorchidism, Increased circulating dehydroepiandrosterone-sulfate concent...	OMIM:201810
Dyskeratosis Congenita, Autosomal Dominant 3	Urethral stricture, Pancytopenia, Aplastic anemia, Cryptorchidism, Urethral stenosis, Leukopenia,...	OMIM:613990
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis	ORPHA:59303
Sitosterolemia 1	Reticulocytosis, Splenomegaly, Thrombocytopenia, Giant platelets, Stomatocytosis, Episodic hemoly...	OMIM:210250
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia	ORPHA:494444
Immunodeficiency 32A	Lymphadenitis, Lymphadenopathy	OMIM:614893
Acute Promyelocytic Leukemia	Pancytopenia, Thrombocytopenia, Leukocytosis, Lymphadenopathy, Hematuria, Leukopenia, Neutropenia...	ORPHA:520
Congenital Disorder Of Glycosylation, Type Iif	Proteinuria, Macrothrombocytopenia, Aminoaciduria, Neutropenia, Decreased platelet glycoprotein I...	OMIM:603585
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel...	OMIM:601847
Letterer-Siwe Disease	Jaundice, Hepatosplenomegaly, Anemia, Neutropenia, Thrombocytopenia	OMIM:246400
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Microphthalmia, Hypogonadotropic hypogonadism	ORPHA:48431
Lymphatic Filariasis	Proteinuria, Glomerulonephritis, Orchitis, Lymphadenitis, Abnormality of the lymphatic system, Hy...	ORPHA:2035
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Pancytopenia, Generalized lymphadenopathy, ...	OMIM:618986
Pelger-Huet Anomaly	Ventricular septal defect, Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Gia...	OMIM:169400
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr...	ORPHA:189427
Acquired Hypertrichosis Lanuginosa	Ovarian neoplasm, Lymphadenopathy	ORPHA:2221
Moyamoya Disease With Early-Onset Achalasia	Abnormal platelet aggregation, Thrombocytopenia	ORPHA:401945
Microphthalmia, Isolated, With Coloboma 7	Microphthalmia	OMIM:614497
Thymic Neuroendocrine Tumor	Calcium nephrolithiasis, Pancreatic islet cell adenoma, Chronic noninfectious lymphadenopathy, Pi...	ORPHA:97289
Tangier Disease	Orange discolored tonsils, Chronic noninfectious lymphadenopathy, Thrombocytopenia, Hepatosplenom...	ORPHA:31150
Cryoglobulinemic Vasculitis	Viral hepatitis, Hepatomegaly, Renal insufficiency, Proteinuria, Splenomegaly, Mediastinal lympha...	ORPHA:91138
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Vacterl With Hydrocephalus	Microphthalmia, Cryptorchidism, Anophthalmia, Abnormal optic nerve morphology	ORPHA:3412
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu...	OMIM:300835
Pediatric-Onset Graves Disease	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Neutropenia in presence of a...	ORPHA:525731
Beta-Thalassemia Major	Hypoparathyroidism, Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemogl...	ORPHA:231214
Braddock-Carey Syndrome 1	Multicystic kidney dysplasia, Aortic valve prolapse, Ventricular septal defect, Thrombocytopenia	OMIM:619980
Bile Acid Synthesis Defect, Congenital, 1	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Splenomegaly, Jaundice, Intrah...	OMIM:607765
Meckel Syndrome, Type 5	Microphthalmia, Bile duct proliferation, Renal cyst	OMIM:611561
Mixed Connective Tissue Disease	Hemolytic anemia, Hepatomegaly, Pericarditis, Splenomegaly, Mediastinal lymphadenopathy, Myocardi...	ORPHA:809
Xeroderma Pigmentosum, Complementation Group G	Microphthalmia	OMIM:278780
Thrombocytopenia 4	Abnormal platelet volume, Thrombocytopenia	OMIM:612004
Microphthalmia, Isolated, With Coloboma 3	Microphthalmia	OMIM:610092
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Hemoglobinuria, Poikilocytos...	OMIM:300908
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, S...	OMIM:224120
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Congenital adrenal hyperplasia, Decreased circulating aldosterone level, Adrenogenital syndrome, ...	OMIM:202010
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma...	ORPHA:288
Osteopetrosis, Autosomal Recessive 2	Pancytopenia, Extramedullary hematopoiesis, Hepatosplenomegaly, Anemia, Thrombocytopenia	OMIM:259710
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Decreased circulating cortisol level, Adrenal hyperplasia, Increased circulating ACTH level, Abno...	ORPHA:90790
Drug Reaction With Eosinophilia And Systemic Symptoms	Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Eosinophilia, Myocardi...	ORPHA:139402
Coach Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Unilateral renal agenesis, Sple...	OMIM:216360
Bleeding Disorder, Platelet-Type, 20	Thrombocytopenia	OMIM:616913
Von Willebrand Disease, Type 2	Thrombocytopenia	OMIM:613554
Syndromic Diarrhea	Hepatomegaly, Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Increased m...	ORPHA:84064
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Microphthalmia, Hypogonadism, Cryptorchidism	OMIM:601794
Proteasome-Associated Autoinflammatory Syndrome 4	Hepatomegaly, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy	OMIM:619183
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Cholangiocarcinoma, Hypogonadotropic hypogonadism, Portal hypertension, Cardiomegal...	ORPHA:465508
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Ventricular septal defect, Thyroid lymphangiectasia, Splenomegaly, Pancreatic lymph...	OMIM:235255
Holoprosencephaly	Diabetes mellitus, Anophthalmia, Cryptorchidism, Panhypopituitarism, Optic atrophy, Chorioretinal...	ORPHA:2162
Fanconi Anemia, Complementation Group V	Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia	OMIM:617243
Microphthalmia, Isolated 6	Microphthalmia	OMIM:613517
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Microcytic anemia, Lymphadenopathy, Hepatosplenomegaly	OMIM:619750
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Hepatomegaly, Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Sp...	ORPHA:436159
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Microphthalmia, Cardiomyopathy	OMIM:613155
Pseudotrisomy 13 Syndrome	Ventricular septal defect, Dextrocardia, Cryptorchidism, Complete atrioventricular canal defect, ...	OMIM:264480
Encephalocraniocutaneous Lipomatosis	Ventricular septal defect, Cryptorchidism, Hypoplasia of the iris, Subvalvular aortic stenosis, A...	OMIM:613001
Osteopetrosis, Autosomal Recessive 1	Hepatomegaly, Pancytopenia, Splenomegaly, Anemia, Thrombocytopenia	OMIM:259700
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Ventricular septal defect, Pericardial effusion, Normochromic anemia, Cholelithiasis, Hypertrophi...	OMIM:618775
Baraitser-Winter Syndrome 1	Bicuspid aortic valve, Cryptorchidism, Aortic valve stenosis, Microphthalmia, Micropenis	OMIM:243310
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Portal hypertension, Thrombocytopenia, Cryptorchidism, Lymphopenia, Anemia	OMIM:620365
Kaposi Sarcoma	Abnormality of the spleen, Abnormality of the liver, Generalized lymphadenopathy	ORPHA:33276
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Small scrotum, Proteinuria, Cryptorchidism, Multiple bladder diverticula, Atrial septal defect, M...	ORPHA:2728
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Precocious puberty, Microphthalmia, Anophthalmia	OMIM:615877
Klatskin Tumor	Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy	ORPHA:99978
Fanconi Anemia, Complementation Group R	Microphthalmia, Pelvic kidney, Bone marrow hypocellularity, Anemia	OMIM:617244
Cerebrooculofacioskeletal Syndrome 2	Microphthalmia, Micropenis, Small scrotum	OMIM:610756
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Hepatomegaly, Pancytopenia, Dextrocardia, Megaloblastic anemia, Cystathioninuria, Methylmalonic a...	OMIM:277380
Generalized Glucocorticoid Resistance Syndrome	Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ...	ORPHA:786
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Cardiomegaly, Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Hepatic failure, ...	OMIM:608013
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Ventricular septal defect, Splenomegaly, Microvesicular hepatic s...	OMIM:619418
Erythrocytosis, Familial, 1	Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin	OMIM:133100
Immunodeficiency 46	Neutropenia, Anemia, Intermittent thrombocytopenia	OMIM:616740
Kapur-Toriello Syndrome	Hypoplasia of penis, Ventricular septal defect, Hypoplastic labia majora, Microphthalmia, Tetralo...	ORPHA:2328
Thrombocytopenia 5	B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy...	OMIM:616216
Marden-Walker Syndrome	Hypospadias, Dextrocardia, Cryptorchidism, Renal hypoplasia, Microphthalmia, Micropenis	OMIM:248700
Microcephaly 20, Primary, Autosomal Recessive	Optic nerve hypoplasia, Renal hypoplasia, Hypoplasia of the uterus, Ureteral agenesis, Microphtha...	OMIM:617914
Stuve-Wiedemann Syndrome 2	Thrombocytopenia	OMIM:619751
Relapsing Fever	Elevated hepatic transaminase, Neutrophilia, Leukocytosis, Jaundice, Anemia, Leukopenia, Hematuri...	ORPHA:91547
Joubert Syndrome 22	Microphthalmia, Renal hypoplasia	OMIM:615665
Wolman Disease	Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Hepatic failure, Ascites, Anemia	ORPHA:75233
Drug-Induced Lupus Erythematosus	Pericarditis, Pericardial effusion, Hematuria, Anemia, Thrombocytopenia	ORPHA:231111
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Myocardial necrosis, Elevated hepatic transam...	OMIM:260400
Glycogen Storage Disease Ixa1	Elevated hepatic transaminase, Splenomegaly, Hepatomegaly	OMIM:306000
Holoprosencephaly 9	Anophthalmia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasi...	OMIM:610829
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:616649
Bile Acid Synthesis Defect, Congenital, 2	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, He...	OMIM:235555
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:612653
Familial Partial Lipodystrophy, Dunnigan Type	Hepatomegaly, Splenomegaly, Polycystic ovaries, Hypertrophic cardiomyopathy, Hepatic steatosis, P...	ORPHA:2348
Isolated Biliary Atresia	Elevated hepatic transaminase, Hepatomegaly, Dark yellow urine, Atretic gallbladder, Splenomegaly...	ORPHA:30391
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, H...	OMIM:607626
8P11.2 Deletion Syndrome	Hemolytic anemia, Hypoplasia of penis, Hypogonadotropic hypogonadism, Splenomegaly, Cryptorchidis...	ORPHA:251066
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Exocrine pancreatic insuff...	OMIM:612714
Pparg-Related Familial Partial Lipodystrophy	Hepatomegaly, Splenomegaly, Polycystic ovaries, Cirrhosis, Hypertrophic cardiomyopathy, Hepatic s...	ORPHA:79083
Immunodeficiency 87 And Autoimmunity	Decreased proportion of CD4-positive T cells, Hemolytic anemia, Hepatomegaly, Lymphopenia, Autoim...	OMIM:619573
Infantile Liver Failure Syndrome 3	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole...	OMIM:618641
Facial Clefting, Oblique, 1	Microphthalmia	OMIM:600251
Microgastria-Limb Reduction Defect Syndrome	Hepatomegaly, Multicystic kidney dysplasia, Anophthalmia, Crossed fused renal ectopia, Abnormalit...	ORPHA:2538
Fanconi Anemia, Complementation Group S	Microphthalmia, Ovarian carcinoma, Anemia, Ovarian neoplasm	OMIM:617883
Macrocephaly/Autism Syndrome	Hepatomegaly, Penile freckling, Splenomegaly, Hydrocele testis, Lymphopenia	OMIM:605309
Shwachman-Diamond Syndrome	Normocytic anemia, Transient neutropenia, Aplastic anemia, Decreased response to growth hormone s...	ORPHA:811
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Abnormal circulating pregnenolone concentration, Abnormal response to human chorionic gonadotroph...	ORPHA:95699
Pearson Marrow-Pancreas Syndrome	Elevated hepatic transaminase, Hepatomegaly, Sideroblastic anemia, Pancytopenia, Pancreatic fibro...	OMIM:557000
Adams-Oliver Syndrome 5	Hypersplenism, Splenomegaly, Portal vein thrombosis, Right ventricular hypertrophy, Pulmonic sten...	OMIM:616028
Mucopolysaccharidosis, Type Iiia	Heparan sulfate excretion in urine, Splenomegaly, Asymmetric septal hypertrophy, Hepatomegaly	OMIM:252900
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia, Hypogonadotropic hypogonadism	ORPHA:1135
Congenital Disorder Of Glycosylation, Type Iig	Renal insufficiency, Hypospadias, Hemolytic-uremic syndrome, Cryptorchidism, Giant platelets, Ane...	OMIM:611209
Overhydrated Hereditary Stomatocytosis	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase...	OMIM:185000
Norrie Disease	Retinal detachment, Optic atrophy, Hypoplasia of the iris, Buphthalmos, Retinal dysplasia, Microp...	OMIM:310600
Shigellosis	Hemolytic-uremic syndrome, Myocarditis, Leukocytosis, Peritonitis, Urethritis, Cholestasis, Micro...	ORPHA:810
Beemer-Ertbruggen Syndrome	Ambiguous genitalia, Cryptorchidism, Thrombocytopenia	ORPHA:1237
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Pancreatic steatosis, Thrombocytopenia, Cr...	OMIM:617052
Hermansky-Pudlak Syndrome 2	Hepatomegaly, Absent platelet dense granules, Splenomegaly, Impaired ADP-induced platelet aggrega...	OMIM:608233
Specific Granule Deficiency 2	Absent neutrophil specific granules, Thrombocytopenia, Anemia, Neutropenia	OMIM:617475
Slc35A1-Cdg	Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia	ORPHA:238459
Budd-Chiari Syndrome	Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Portal hypertension, Splenome...	ORPHA:131
Cataract 9, Multiple Types	Microphthalmia	OMIM:604219
Farber Disease	Elevated hepatic transaminase, Intrahepatic cholestasis with episodic jaundice, Thrombocytopenia,...	ORPHA:333
Hemophagocytic Syndrome Associated With An Infection	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia, Abnorm...	ORPHA:158048
Microphthalmia, Isolated 5	Microphthalmia	OMIM:611040
Chédiak-Higashi Syndrome	Abnormal leukocyte morphology, Elevated hepatic transaminase, Pancytopenia, Pericardial effusion,...	ORPHA:167
Schimke Immunoosseous Dysplasia	Pancytopenia, Renal insufficiency, Proteinuria, Bilateral cryptorchidism, Stage 5 chronic kidney ...	OMIM:242900
Idiopathic Aplastic Anemia	Pancytopenia, Thrombocytopenia, Reticulocytopenia, Bone marrow hypocellularity, Neutropenia, Anemia	ORPHA:88
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia	OMIM:614830
Familial Mediterranean Fever	Acute hepatic failure, Pericarditis, Proteinuria, Orchitis, Splenomegaly, Peritonitis, Lymphadeno...	ORPHA:342
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Ketonuria, Anemia, Aminoaciduria, Bone marrow hypocellularity, Neutropenia, Thrombocytopenia	OMIM:614520
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Lens coloboma, Renal hypoplasia, Pulmonic stenosis, Microphthalmia, Patent foramen ovale	OMIM:618914
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia	OMIM:615771
Cat Eye Syndrome	Ventricular septal defect, Biliary atresia, Vesicoureteral reflux, Horseshoe kidney, Hypoplastic ...	OMIM:115470
Idiopathic Hypereosinophilic Syndrome	Elevated hepatic transaminase, Generalized lymphadenopathy, Neutrophilia, Cholangitis, Eosinophil...	ORPHA:3260
Joubert Syndrome 21	Retinopathy, Anophthalmia, Optic atrophy, Megalopapilla	OMIM:615636
Mcleod Syndrome	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Acanthocytosis, Sple...	OMIM:300842
Good Syndrome	Abnormal leukocyte morphology, Mediastinal lymphadenopathy, Thrombocytopenia, Thymoma, Aplasia/Hy...	ORPHA:169105
Trichothiodystrophy 3, Photosensitive	Bilateral cryptorchidism, Abdominal adhesions, Neutropenia, Microphthalmia, Lymphopenia	OMIM:616395
Sepsis In Premature Infants	Hepatomegaly, Splenomegaly, Leukocytosis, Thrombocytopenia, Jaundice, Oliguria, Decreased liver f...	ORPHA:90051
Meckel Syndrome, Type 2	Microphthalmia, Bile duct proliferation, Renal cyst	OMIM:603194
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Splenomegaly, Pancytopenia	OMIM:614979
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Proteinuria, Heparan sulfate excretion in urine, Hepatosplenomegaly, Anemia, Leukopenia, Abnormal...	ORPHA:505248
Schimke Immuno-Osseous Dysplasia	Proteinuria, Microscopic hematuria, Minimal change glomerulonephritis, Thrombocytopenia, Stage 5 ...	ORPHA:1830
Lig4 Syndrome	Pancytopenia, Cryptorchidism, Acute lymphoblastic leukemia, Micropenis, Thrombocytopenia	OMIM:606593
Jacobsen Syndrome	Hypospadias, Ventricular septal defect, Cryptorchidism, Clitoral hypoplasia, Macular hypoplasia, ...	OMIM:147791
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Hematuria, Microphthalmia	ORPHA:1473
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Microphthalmia, Cryptorchidism, Anophthalmia, Hypogonadism	ORPHA:2250
Microphthalmia, Syndromic 13	Microphthalmia	OMIM:300915
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Left ventricular hypertrophy, Microphthalmia	OMIM:613153
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Hepatitis, Cholestasis, Renal ...	OMIM:610199
Acyl-Coa Dehydrogenase 9 Deficiency	Acute hepatic failure, Elevated hepatic transaminase, Dicarboxylic aciduria, Dilated cardiomyopat...	ORPHA:99901
Autoimmune Hepatitis	Elevated hepatic transaminase, Viral hepatitis, Acute hepatitis, Glomerulonephritis, Splenomegaly...	ORPHA:2137
Takenouchi-Kosaki Syndrome	Hypospadias, Increased mean platelet volume, Unilateral renal agenesis, Cryptorchidism, Abnormal ...	OMIM:616737
Congenital Varicella Syndrome	Microphthalmia	ORPHA:291
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Microphthalmia	OMIM:610023
Warburg Micro Syndrome 4	Small scrotum, Cryptorchidism, Microphthalmia, Micropenis, Decreased testicular size	OMIM:615663
Ghosal Hematodiaphyseal Dysplasia	Refractory anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia	OMIM:231095
Microphthalmia With Linear Skin Defects Syndrome	Abnormality of retinal pigmentation, Anophthalmia, Retinal dystrophy, Chorioretinal dysplasia, Vi...	ORPHA:2556
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Macrocytic anemia, Pancytopenia, Proteinuria, Megaloblastic anemia, Anisopoikilo...	ORPHA:35858
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Chronic Visceral Acid Sphingomyelinase Deficiency	Hepatomegaly, Abnormal heart valve morphology, Autoimmune thrombocytopenia, Hypersplenism, Spleno...	ORPHA:77293
Thyroid Lymphoma	Goiter, Lymphadenopathy	ORPHA:97285
Pulmonary Non-Tuberculous Mycobacterial Infection	Pericardial effusion, Lymphadenopathy	ORPHA:411703
Thrombocytopenia-Absent Radius Syndrome	Horseshoe kidney, Abnormal cardiac septum morphology, Aplasia of the uterus, Tetralogy of Fallot,...	ORPHA:3320
Dyskeratosis Congenita	Neoplasm of the pancreas, Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Thrombocytopeni...	ORPHA:1775
Lysinuric Protein Intolerance	Decreased response to growth hormone stimulation test, Leukopenia, Tubulointerstitial nephritis, ...	ORPHA:470
Craniotelencephalic Dysplasia	Microphthalmia, Septo-optic dysplasia	ORPHA:1528
Immunodeficiency 27B	Generalized lymphadenopathy	OMIM:615978
Glycogen Storage Disease Xii	Normocytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Elevated circulating alanine aminotransf...	OMIM:611881
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Microphthalmia, Abnormal heart morphology, Ventricular septal defect, Cryptorchidism	ORPHA:404440
Gaucher Disease, Type Iiic	Hepatomegaly, Pancytopenia, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve ...	OMIM:231005
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatocellular adenoma, Polycystic ova...	ORPHA:79240
Common Variable Immunodeficiency	Elevated hepatic transaminase, Hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymph...	ORPHA:1572
Toxic Epidermal Necrolysis	Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Dysuria, Abnormality o...	ORPHA:537
Squamous Cell Carcinoma Of The Anal Canal	Neoplasm of the liver, Lymphadenopathy	ORPHA:424019
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Thrombocytopenia, Hydronephrosis, Increased mean platelet volume	OMIM:300048
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia	OMIM:267760
Kapur-Toriello Syndrome	Ventricular septal defect, Cryptorchidism, Hypoplastic labia majora, Atrial septal defect, Microp...	OMIM:244300
Meckel Syndrome 14	Hepatic fibrosis, Aplasia of the uterus, Polycystic kidney dysplasia, Ambiguous genitalia, Microp...	OMIM:619879
Cerebrooculofacioskeletal Syndrome 1	Microphthalmia, Cryptorchidism	OMIM:214150
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel...	OMIM:606367
Moebius Syndrome	Microphthalmia, Micropenis, Hypogonadotropic hypogonadism, Decreased testicular size	OMIM:157900
Thrombotic Thrombocytopenic Purpura, Hereditary	Reticulocytosis, Proteinuria, Hemolytic-uremic syndrome, Jaundice, Schistocytosis, Microangiopath...	OMIM:274150
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Hypopituitarism, Increased T cell count, Absent peripheral lymph nodes in presence of infection, ...	ORPHA:98813
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomega...	ORPHA:567983
Osteopetrosis, Autosomal Recessive 5	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Thrombocyto...	OMIM:259720
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
H Syndrome	Microcytic anemia, Lymphadenopathy, Hepatosplenomegaly, Azoospermia, Hypogonadism, Micropenis, De...	ORPHA:168569
Liver Disease, Severe Congenital	Cardiomegaly, Biliary hyperplasia, Leukopenia, Aminoaciduria, Lymphocytosis, Elevated hepatic iro...	OMIM:619991
Tyrosinemia, Type I	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Renal insufficiency, Splenome...	OMIM:276700
Poems Syndrome	Pericardial effusion, Lymphadenopathy, Hypogonadism, Thrombocytosis, Ascites, Polycythemia, Visce...	ORPHA:2905
Trichohepatoenteric Syndrome 1	Hepatomegaly, Hypospadias, Ventricular septal defect, Increased mean platelet volume, Abnormality...	OMIM:222470
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Oliguria, Lymphocytosis, Hypoch...	ORPHA:514
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Fraser Syndrome 2	Unilateral renal agenesis, Renal hypoplasia, Ureteral agenesis, Hypoplasia of the thymus, Ambiguo...	OMIM:617666
16Q24.3 Microdeletion Syndrome	Ventricular septal defect, Optic nerve hypoplasia, Cryptorchidism, Dilated cardiomyopathy, Increa...	ORPHA:261250
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia, Isosexual precocious puberty	ORPHA:2788
Anaplastic Thyroid Carcinoma	Goiter, Nodular goiter, Lymphadenopathy	ORPHA:142
Necrotizing Enterocolitis	Peritonitis, Leukocytosis, Abnormal heart morphology, Neutropenia, Ascites, Thrombocytopenia	ORPHA:391673
Immunodeficiency 40	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:616433
Autoimmune Lymphoproliferative Syndrome	Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-b...	ORPHA:3261
Hemangioma-Thrombocytopenia Syndrome	Microangiopathic hemolytic anemia, Thrombocytopenia	OMIM:141000
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Portal hypertension, Splenomegaly, Leu...	OMIM:615688
Diamond-Blackfan Anemia	Acute myeloid leukemia, Hypospadias, Ventricular septal defect, Pure red cell aplasia, Erythroid ...	ORPHA:124
Aicardi-Goutieres Syndrome 5	Thrombocytopenia	OMIM:612952
Acute Generalized Exanthematous Pustulosis	Elevated hepatic transaminase, Renal insufficiency, Neutrophilia, Eosinophilia, Leukocytosis, Cho...	ORPHA:293173
Bleeding Disorder, Platelet-Type, 21	Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Incre...	OMIM:617443
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Splenomegaly, Anemia, Hepatomegaly	OMIM:620296
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Nephrocalcinos...	OMIM:616084
Porphyria, Congenital Erythropoietic	Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Red urine, Cholelithiasis, Pink urine, Th...	OMIM:263700
Congenital Disorder Of Glycosylation, Type Iiw	Elevated hepatic transaminase, Hepatomegaly, Membranoproliferative glomerulonephritis, Ventricula...	OMIM:619525
Mycosis Fungoides	Lymphadenopathy	OMIM:254400
Lathosterolosis	Hepatomegaly, Hypoplasia of penis, Intrahepatic cholestasis, Anisopoikilocytosis, Abnormal platel...	ORPHA:46059
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Pancytopenia, Proteinuria, Polyuria, Renal salt wasting, Chronic kidney disease, Anemia, Leukopen...	OMIM:613845
Aicardi-Goutieres Syndrome 7	Hemolytic anemia, Hepatomegaly, Generalized lymphadenopathy, Pancytopenia, Pericardial effusion, ...	OMIM:615846
Frontonasal Dysplasia 1	Microphthalmia, Tetralogy of Fallot	OMIM:136760
Congenital Disorder Of Glycosylation, Type Iq	Elevated hepatic transaminase, Microphthalmia, Microcytic anemia	OMIM:612379
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Ventricular septal defect, Cryptorchidism, Bilateral microphthalmos, Abnormal heart morphology, P...	ORPHA:369891
Basel-Vanagaite-Smirin-Yosef Syndrome	Ventricular septal defect, Hypospadias, Atrial septal defect, Microphthalmia, Hydronephrosis, Cli...	OMIM:616449
Igg4-Related Kidney Disease	Lymphadenitis, Sterile pyuria, Tubulointerstitial nephritis, Cholecystitis, Abnormal ureter morph...	ORPHA:449395
Refractory Anemia With Excess Blasts	Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular ...	ORPHA:86839
Glycogen Storage Disease Ib	Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Proteinuria, Decreased glomerul...	OMIM:232220
Essential Thrombocythemia	Splenomegaly, Abnormality of thrombocytes, Abnormal platelet morphology, Acute leukemia	ORPHA:3318
Igg4-Related Submandibular Gland Disease	Renal insufficiency, Eosinophilia, Cholangitis, Retroperitoneal fibrosis, Prostatitis, Abnormal p...	ORPHA:449432
Papa Syndrome	Proteinuria, Lymphadenopathy	ORPHA:69126
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Anuria, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic kidney disease, Anemia, Hematuria...	OMIM:612925
Snakebite Envenomation	Hypopituitarism, Acute kidney injury, Thrombocytopenia	ORPHA:449285
Fanconi Anemia	Leukopenia, Abnormality of the liver, Abnormality of the uterus, Atrial septal defect, Hypospadia...	ORPHA:84
Platelet Disorder, Familial, With Associated Myeloid Malignancy	Acute myeloid leukemia, Acute monocytic leukemia, Impaired platelet aggregation, Abnormal dense g...	OMIM:601399
Drug-Induced Autoimmune Hemolytic Anemia	Splenomegaly, Autoimmune hemolytic anemia, Abnormal urinary color	ORPHA:90037
Combined Oxidative Phosphorylation Deficiency 14	Copper accumulation in liver, Anemia, Aminoaciduria, Elevated hepatic iron concentration, Increas...	OMIM:614946
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Microphthalmia, Small scrotum, Hypogonadism, Cryptorchidism	ORPHA:228390
Thrombocytopenia, Paris-Trousseau Type	Thrombocytopenia	OMIM:188025
Craniotelencephalic Dysplasia	Microphthalmia, Optic nerve hypoplasia	OMIM:218670
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Microphthalmia	ORPHA:324416
Developmental Delay With Variable Neurologic And Brain Abnormalities	Microphthalmia	OMIM:619694
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Anuria, Proteinuria, Hemolytic-uremic syndrome, Anemia, Hematuria, Microangiopathic hemolytic ane...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Anuria, Proteinuria, Hemolytic-uremic syndrome, Anemia, Hematuria, Microangiopathic hemolytic ane...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Anuria, Proteinuria, Hemolytic-uremic syndrome, Anemia, Hematuria, Microangiopathic hemolytic ane...	OMIM:612926
Smith-Kingsmore Syndrome	Cryptorchidism, Thrombocytopenia	OMIM:616638
Moyamoya Disease 6 With Or Without Achalasia	Thrombocytopenia	OMIM:615750
Methylmalonic Aciduria, Cblb Type	Hepatomegaly, Pancytopenia, Ketonuria, Methylmalonic aciduria, Anemia, Neutropenia, Thrombocytopenia	OMIM:251110
Hyper-Igd Syndrome	Neutrophilia, Splenomegaly, Lymphadenitis, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Ren...	OMIM:260920
Meckel Syndrome, Type 1	Accessory spleen, External genital hypoplasia, Malformation of the hepatic ductal plate, Asplenia...	OMIM:249000
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Cardiomyopathy, Thrombocytopenia	OMIM:617710
Warburg Micro Syndrome 3	Small scrotum, Hypoplastic labia minora, Microphthalmia, Micropenis, Decreased testicular size	OMIM:614222
Mosaic Trisomy 1	Hepatic agenesis, Ventricular septal defect, Renal cyst, Renal cortical cysts, Microphthalmia, Mi...	ORPHA:1692
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Anuria, Proteinuria, Hemolytic-uremic syndrome, Anemia, Hematuria, Microangiopathic hemolytic ane...	OMIM:612924
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:233710
Stromme Syndrome	Accessory spleen, Optic nerve hypoplasia, Bilateral renal hypoplasia, Microphthalmia, Hydronephrosis	OMIM:243605
Spondylo-Ocular Syndrome	Microphthalmia, Aplasia/Hypoplasia of the lens, Ventricular septal defect	ORPHA:85194
Elliptocytosis 1	Splenomegaly, Jaundice, Hemolytic anemia, Elliptocytosis	OMIM:611804
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Functional abnormality of the bladder, ...	ORPHA:391487
Meige Disease	Lymph node hypoplasia, Absence of lymph node germinal center	ORPHA:90186
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Thrombocytopenia, Hepatic necrosis, Leukopenia, Increased mean corpuscular volum...	OMIM:127550
Multiple Benign Circumferential Skin Creases On Limbs	Small scrotum, Hypospadias, Cryptorchidism, Abnormality of the scrotum, Microphthalmia	ORPHA:2505
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Pericarditis, Orchitis, Splenomegaly, Leukocytosis, Peritonitis, Lymphadenopathy, Abnormal myocar...	ORPHA:32960
17Q12 Microduplication Syndrome	Atrial septal defect, Microphthalmia	ORPHA:261272
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Microphthalmia	OMIM:251270
22Q11.2 Deletion Syndrome	Hypoplasia of the thymus, Abnormality of the uterus, Vesicoureteral reflux, Atrial septal defect,...	ORPHA:567
Crimean-Congo Hemorrhagic Fever	Leukopenia, Cholecystitis, Hepatomegaly, Neutrophilia, Pericardial effusion, Leukocytosis, Epidid...	ORPHA:99827
Ritscher-Schinzel Syndrome 3	Microphthalmia, Atrioventricular canal defect, Cryptorchidism	OMIM:619135
Immunodeficiency 36 With Lymphoproliferation	Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Decreased proportion of naive CD8 T c...	OMIM:616005
Fryns Syndrome	Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Abnormal cardiac septum morphology, Bi...	ORPHA:2059
Tetraamelia Syndrome 1	Hypoplasia of the fallopian tube, Absent external genitalia, Asplenia, Urethral atresia, Adrenal ...	OMIM:273395
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Adrenal gland agenesis	OMIM:611812
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Spherocytosis	ORPHA:66518
Micro Syndrome	Hypoplasia of penis, Cryptorchidism, Hypoplastic labia minora, Clitoral hypoplasia, Microphthalmi...	ORPHA:2510
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:233690
Dengue Fever	Leukopenia, Ascites, Thrombocytopenia, Hepatomegaly	ORPHA:99828
Fryns Syndrome	Bifid scrotum, Ureteral duplication, Ectopic pancreatic tissue, Hypospadias, Ventricular septal d...	OMIM:229850
Autoimmune Hemolytic Anemia, Warm Type	Abnormal urinary color, Autoimmune hemolytic anemia, Splenomegaly, Jaundice, Chronic lymphatic le...	ORPHA:90033
Temtamy Syndrome	Microphthalmia	ORPHA:1777
Cutaneous Mastocytoma	Lymphadenopathy	ORPHA:79455
Chromosome 13Q33-Q34 Deletion Syndrome	Bifid scrotum, Hypospadias, Cryptorchidism, Penoscrotal transposition, Pulmonic stenosis, Left ve...	OMIM:619148
Dyskeratosis Congenita, Autosomal Recessive 1	Pancytopenia, Aplastic anemia, Hepatic fibrosis, Bone marrow hypocellularity, Thrombocytopenia	OMIM:224230
Lysinuric Protein Intolerance	Hepatomegaly, Splenomegaly, Thrombocytopenia, Stage 5 chronic kidney disease, Leukopenia, Aminoac...	OMIM:222700
Immunodeficiency, Common Variable, 12, With Autoimmunity	Autoimmune hemolytic anemia, Thrombocytopenia	OMIM:616576
Fibular Hemimelia	Anophthalmia	ORPHA:93323
Methylmalonic Aciduria, Cbla Type	Hepatomegaly, Pancytopenia, Ketonuria, Elevated urine 3-hydroxypropionic acid level, Methylmaloni...	OMIM:251100
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Noncompaction cardiomyopathy, Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymphocytopenia,...	ORPHA:508542
Cerebrooculonasal Syndrome	Anophthalmia, Optic nerve hypoplasia	OMIM:605627
Pancreatoblastoma	Jaundice, Pancreatic calcification, Abnormal lymph node morphology	ORPHA:677
Lissencephaly 8	Microphthalmia	OMIM:617255
Pallister-Hall Syndrome	Thyroid dysgenesis, Hydroureter, Ventricular septal defect, Decreased response to growth hormone ...	OMIM:146510
Lipodystrophy, Congenital Generalized, Type 2	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Elevated hemoglobin A1c, Splenom...	OMIM:269700
Ileal Neuroendocrine Tumor	Elevated hepatic transaminase, Tricuspid stenosis, Extrahepatic cholestasis, Lymphadenopathy, Iro...	ORPHA:100078
Microphthalmia, Syndromic 11	Microphthalmia, Agenesis of pineal gland	OMIM:614402
Familial Mediterranean Fever	Hepatomegaly, Pericarditis, Neutrophilia, Orchitis, Splenomegaly, Leukocytosis, Peritonitis, Stag...	OMIM:249100
Fanconi Anemia, Complementation Group L	Unilateral renal agenesis, Renal hypoplasia, Bone marrow hypocellularity, Aplasia of the uterus, ...	OMIM:614083
Charge Syndrome	Anophthalmia, Hypogonadotropic hypogonadism, Cryptorchidism, Optic atrophy, Abnormality of the ad...	ORPHA:138
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Hypospadias, Increased mean platelet volume, Unilateral renal agenesis, Abnormality of the lympha...	ORPHA:487796
Warburg Micro Syndrome 2	Small scrotum, Cryptorchidism, Hypoplastic labia majora, Microphthalmia, Micropenis	OMIM:614225
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities	Thrombocytopenia	OMIM:616577
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Absent gallbladder, Hypospadias, Ventricular septal defect, Cryptorchidism, Anemia, Atrial septal...	ORPHA:163979
Gaucher Disease, Type Ii	Splenomegaly, Thrombocytopenia, Anemia, Hepatomegaly	OMIM:230900
Waldenström Macroglobulinemia	Normocytic anemia, Hepatomegaly, Renal insufficiency, Abnormality of neutrophils, Splenomegaly, L...	ORPHA:33226
Tufted Angioma	Anemia, Thrombocytopenia	ORPHA:1063
Neuroendocrine Tumor Of The Colon	Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulm...	ORPHA:100080
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Elevated urinary 3-hydroxybutyric acid, Methylmalonic aciduria, Elevated urinary aminoisobutyric ...	OMIM:614105
Zika Virus Disease	Optic disc hypoplasia, Thrombocytopenia	ORPHA:448237
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Pancytopenia, Mitral valve calcification, Splenomegaly, Abnormality of the spleen, Thrombocytopen...	ORPHA:2072
Hyperparathyroidism, Neonatal Severe	Hepatomegaly, Hyperphosphaturia, Polyuria, Splenomegaly, Primary hyperparathyroidism, Hypercalciu...	OMIM:239200
Kasabach-Merritt Syndrome	Reticulocytosis, Thrombocytopenia, Abnormal lymphatic vessel morphology, Leukopenia, Hepatic hema...	ORPHA:2330
Alg8-Cdg	Elevated hepatic transaminase, Thrombocytopenia, Ascites, Anemia	ORPHA:79325
Middle Ear Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy	ORPHA:100084
Gaucher Disease	Hepatomegaly, Pancytopenia, Mitral valve calcification, Abnormal heart valve morphology, Abnormal...	ORPHA:355
Overlap Myositis	Elevated hepatic transaminase, Leukopenia, Thrombocytopenia, Abnormal heart morphology	ORPHA:206572
Hermansky-Pudlak Syndrome 9	Leukopenia, Abnormal platelet aggregation, Thrombocytopenia	OMIM:614171
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Decreased response to growth hormone stimulation test, Cryptorchidism, Microphthalmia, Micropenis...	OMIM:241410
Stevens-Johnson Syndrome	Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Dysuria, Abnormality o...	ORPHA:36426
Sandestig-Stefanova Syndrome	Microphthalmia, Muscular ventricular septal defect, Perimembranous ventricular septal defect	OMIM:618804
Hereditary Orotic Aciduria	Orotic acid crystalluria, Splenomegaly, Abnormality of the ureter, Aminoaciduria, Oroticaciduria,...	ORPHA:30
Chromosome 1Q41-Q42 Deletion Syndrome	Microphthalmia, Ventricular septal defect, Supernumerary nipple, Cryptorchidism	OMIM:612530
Microphthalmia, Syndromic 2	Retinal detachment, Anophthalmia, Remnants of the hyaloid vascular system, Cryptorchidism, Adrena...	OMIM:300166
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Splenomegaly, Pancytopenia, Hemophagocytosis, Anemia	OMIM:618398
Bronchial Neuroendocrine Tumor	Hepatomegaly, Chronic noninfectious lymphadenopathy, Elevated circulating growth hormone concentr...	ORPHA:97287
Osteopetrosis With Renal Tubular Acidosis	Hepatomegaly, Pancytopenia, Thrombocytopenia, Enlarged tonsils, Proximal renal tubular acidosis, ...	ORPHA:2785
Bleeding Disorder, Platelet-Type, 17	Increased RBC distribution width, Macrothrombocytopenia, Absence of alpha granules, Impaired coll...	OMIM:187900
Diffuse Alveolar Hemorrhage	Proteinuria, Leukocytosis, Hematuria, Anemia, Thrombocytopenia	ORPHA:90060
Triosephosphate Isomerase Deficiency	Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Splenomegaly, Jaundice, Normochromic anem...	OMIM:615512
Primary Sclerosing Cholangitis	Acute hepatic failure, Abnormal eosinophil morphology, Hepatic fibrosis, Neoplasm of the gallblad...	ORPHA:171
Acute Interstitial Pneumonia	Pericardial effusion, Reduced hematocrit, Lymphadenopathy	ORPHA:79126
Basel-Vanagaite-Smirin-Yosef Syndrome	Hypospadias, Ventricular septal defect, Male urethral meatus stenosis, Atrial septal defect, Micr...	ORPHA:464738
Thrombocytopenia-Absent Radius Syndrome	Ureteral duplication, Ventricular septal defect, Eosinophilia, Pancreatic cysts, Leukocytosis, Ve...	OMIM:274000
Alg12-Cdg	Elevated hepatic transaminase, Hypospadias, Cryptorchidism, Muscular ventricular septal defect, B...	ORPHA:79324
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Diffuse mesangial sclerosis, Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia,...	OMIM:102700
Linear Skin Defects With Multiple Congenital Anomalies 1	Overriding aorta, Hypospadias, Ventricular septal defect, Ovotestis, Hypoplasia of the uterus, Ch...	OMIM:309801
Lipodystrophy, Congenital Generalized, Type 1	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Splenomegaly, Labial hypertrophy...	OMIM:608594
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy...	ORPHA:86843
Lymphangioleiomyomatosis	Abnormal urinary color, Abnormality of the lymphatic system, Abnormal morphology of female intern...	ORPHA:538
Tetraamelia-Multiple Malformations Syndrome	Septo-optic dysplasia, Multicystic kidney dysplasia, Cryptorchidism, Microphthalmia, Vaginal atresia	ORPHA:3301
Martsolf Syndrome 1	Hypogonadotropic hypogonadism, Cryptorchidism, Cardiomyopathy, Microphthalmia, Micropenis	OMIM:212720
Graft Versus Host Disease	Elevated hepatic transaminase, Jaundice, Lymphadenopathy, Chronic hepatitis, Hepatosplenomegaly, ...	ORPHA:39812
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Cervical lymphadenopathy, Decreased mean platelet volume, Lymphadenopathy, Lymphocytosis, Thrombo...	OMIM:617718
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Microphthalmia, Optic nerve hypoplasia	OMIM:615181
Cornelia De Lange Syndrome 1	Hypospadias, Ventricular septal defect, Proteinuria, Ectopic kidney, Cryptorchidism, Vesicoureter...	OMIM:122470
Baraitser-Winter Syndrome 2	Microphthalmia	OMIM:614583
Avian Influenza	Elevated hepatic transaminase, Hepatitis, Leukopenia, Lymphopenia, Acute kidney injury, Thrombocy...	ORPHA:454836
Hermansky-Pudlak Syndrome 5	Hypoplasia of the fovea, Absent platelet dense granules, Impaired ADP-induced platelet aggregatio...	OMIM:614074
Hyperimmunoglobulinemia D With Periodic Fever	Hepatomegaly, Peritonitis, Lymphadenopathy	ORPHA:343
Degcags Syndrome	Bilateral renal hypoplasia, Leukopenia, Iron deficiency anemia, Atrial septal defect, Patent fora...	OMIM:619488
Shwachman-Diamond Syndrome 2	Normocytic anemia, Hepatomegaly, Neutropenia, Hyperechogenic pancreas, Thrombocytopenia, Exocrine...	OMIM:617941
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Hepatomegaly, Mediastinal lymphadenopathy, Leukocytosis, Cholestasis, Mitral valve prolapse, Hila...	OMIM:620233
Papillorenal Syndrome	Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary differentiation, Chr...	OMIM:120330
Hartsfield Syndrome	Microphthalmia	ORPHA:2117
Histiocytoid Cardiomyopathy	Hepatomegaly, Ventricular septal defect, Cardiomegaly, Renal cyst, Polycystic ovaries, Microphtha...	ORPHA:137675
Microphthalmia, Syndromic 6	Anophthalmia, Female hypogonadism, Retinal dystrophy, Adrenal hypoplasia, Cryptorchidism, Microph...	OMIM:607932
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Leukocytosis, Thrombocytopenia, Goiter	ORPHA:83601
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Elevated hepatic transaminase, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenome...	ORPHA:37042
Chronic Granulomatous Disease	Hepatomegaly, Liver abscess, Abnormality of neutrophils, Splenomegaly, Mediastinal lymphadenopathy	ORPHA:379
Congenital Muscular Dystrophy With Cerebellar Involvement	Microphthalmia, Optic nerve hypoplasia, Cardiomyopathy	ORPHA:370959
Melkersson-Rosenthal Syndrome	Oligosacchariduria, Lymphadenopathy	ORPHA:2483
Coccidioidomycosis	Abnormal sperm morphology, Pericarditis, Renal insufficiency, Eosinophilia, Abnormality of the sp...	ORPHA:228123
Cushing Disease	Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c...	ORPHA:96253
Sting-Associated Vasculopathy, Infantile-Onset	Follicular hyperplasia, Paratracheal lymphadenopathy, Leukopenia, Thrombocytosis, Lymphopenia, An...	OMIM:615934
3Q29 Microdeletion Syndrome	Microphthalmia, Hypospadias, Horseshoe kidney, Subvalvular aortic stenosis	ORPHA:65286
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr...	ORPHA:309854
Sarcoidosis	Increased T cell count, Nephrocalcinosis, Leukopenia, Tubulointerstitial nephritis, Hemolytic ane...	ORPHA:797
Catastrophic Antiphospholipid Syndrome	Abnormal heart valve morphology, Myocarditis, Coombs-positive hemolytic anemia, Microangiopathic ...	ORPHA:464343
Dyskeratosis Congenita, X-Linked	Acute myeloid leukemia, Pancytopenia, Hypospadias, Phimosis, Cryptorchidism, Urethral stenosis, H...	OMIM:305000
Hoyeraal-Hreidarsson Syndrome	Abnormal leukocyte morphology, Thrombocytopenia, Bone marrow hypocellularity, Anemia	ORPHA:3322
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Bicuspid aortic valve, Hypospadias, Optic nerve hypoplasia, Truncus arteriosus, Ventricular septa...	ORPHA:508498
Cockayne Syndrome Type 3	Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Neurogenic bladder, Hydroureter...	ORPHA:90324
Periodic Fever, Familial, Autosomal Dominant	Hepatomegaly, Cervical lymphadenopathy, Hepatic amyloidosis	OMIM:142680
Primary Sjögren Syndrome	Normocytic anemia, Vaginal dryness, Chronic active hepatitis, Parotitis, Renal insufficiency, Glo...	ORPHA:289390
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Decreased hemoglobin concentration, Hepatomegaly, Cryptorchidism, Micropenis, Thrombocytopenia	OMIM:619005
1Q21.1 Microdeletion Syndrome	Cryptorchidism, Abnormal cardiac septum morphology, Vesicoureteral reflux, Microphthalmia, Hydron...	ORPHA:250989
Immune Thrombocytopenia	Thrombocytopenia	ORPHA:3002
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Macroorchidism, Hypospadias, Unilateral microphthalmos, Mitral valve prolapse	OMIM:618874
Proboscis Lateralis	Anophthalmia, Optic nerve hypoplasia, Optic disc coloboma, Chorioretinal coloboma, Microphthalmia	ORPHA:141099
Stevenson-Carey Syndrome	Atrial septal defect, Microphthalmia	OMIM:611961
Hennekam Syndrome	Lymphopenia, Ectopic kidney, Pericardial effusion, Splenomegaly, Pulmonary lymphangiectasia, Hors...	ORPHA:2136
Acquired Purpura Fulminans	Hepatic failure, Thrombocytopenia	ORPHA:49566
Holocarboxylase Synthetase Deficiency	Organic aciduria, Thrombocytopenia	ORPHA:79242
Cohen Syndrome	Ventricular septal defect, Cryptorchidism, Mitral valve prolapse, Neutropenia, Microphthalmia	ORPHA:193
3-Methylglutaconic Aciduria, Type Viib	Leukopenia, 3-Methylglutaconic aciduria, Neutropenia, Hepatic steatosis, Thrombocytopenia	OMIM:616271
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Hepatomegaly, Splenomegaly, Micronodular cirrhosis, Hepatic failure, Ascites, Thrombocytopenia	OMIM:301072
Neuroendocrine Tumor Of The Rectum	Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulm...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulm...	ORPHA:100082
Lujo Hemorrhagic Fever	Elevated hepatic transaminase, Renal insufficiency, Microscopic hematuria, Myocarditis, Leukocyto...	ORPHA:319213
Gallbladder Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy, Biliary tract neoplasm, Extrahepatic cholestasis, Intermit...	ORPHA:100086
Digeorge Syndrome	Renal insufficiency, Parathyroid agenesis, Ventricular septal defect, Unilateral renal agenesis, ...	OMIM:188400
Joubert Syndrome 14	Microphthalmia, Ventricular septal defect, Renal cyst	OMIM:614424
Platelet Disorder, Undefined	Impaired platelet aggregation, Thrombocytopenia	OMIM:173420
Granulomatous Disease, Chronic, X-Linked	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:306400
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis	OMIM:300367
Igg4-Related Dacryoadenitis And Sialadenitis	Retroperitoneal fibrosis, Enlarged lacrimal glands, Lymphadenopathy, Enlargement of parotid gland...	ORPHA:79078
Microphthalmia, Lenz Type	Hydroureter, Hypospadias, Cryptorchidism, Microphthalmia, Hydronephrosis	ORPHA:568
Primary Hepatic Neuroendocrine Carcinoma	Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chr...	ORPHA:100085
T-Cell Immunodeficiency With Thymic Aplasia	Decreased proportion of naive T cells, Aplasia of the thymus, Atypical or prolonged hepatitis, Ly...	ORPHA:83471
Carcinoid Syndrome	Elevated hepatic transaminase, Chronic noninfectious lymphadenopathy, Hepatic necrosis	ORPHA:100093
21Q22.11Q22.12 Microdeletion Syndrome	Atrial septal defect, Thrombocytopenia, Hypoplastic nipples, Anemia	ORPHA:261323
Combined Oxidative Phosphorylation Deficiency 55	Stage 3 chronic kidney disease, Anemia, Enuresis, Renal Fanconi syndrome, Organic aciduria, Proxi...	OMIM:619743
Bacterial Toxic-Shock Syndrome	Renal insufficiency, Glomerulonephritis, Myocarditis, Peritonitis, Hepatitis, Increased circulati...	ORPHA:36234
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Microphthalmia, Oligosacchariduria	ORPHA:163649
Malakoplakia	Proteinuria, Dysuria, Follicular hyperplasia, Orchitis, Urinary bladder inflammation, Urinary urg...	ORPHA:556
Hydrolethalus Syndrome 1	Accessory spleen, Hypospadias, Ventricular septal defect, Bifid uterus, Complete atrioventricular...	OMIM:236680
Alport Syndrome 1, X-Linked	Hypoparathyroidism, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Nephrotic s...	OMIM:301050
3P25.3 Microdeletion Syndrome	Atrial septal defect, Microphthalmia, Ventricular septal defect, Pulmonic stenosis	ORPHA:435638
Charge Syndrome	Hypoparathyroidism, Anophthalmia, Hypogonadotropic hypogonadism, Decreased response to growth hor...	OMIM:214800
Duane-Radial Ray Syndrome	Ventricular septal defect, Optic disc hypoplasia, Vesicoureteral reflux, Renal hypoplasia, Horses...	OMIM:607323
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Reticulocytosis, Anuria, Hemolytic-uremic syndrome, Schistocytosis, Microangiopathic hemolytic an...	OMIM:235400
Jacobsen Syndrome	Multicystic kidney dysplasia, Ventricular septal defect, Cryptorchidism, Aortic valve stenosis, B...	ORPHA:2308
Holoprosencephaly-Postaxial Polydactyly Syndrome	Hypoplasia of penis, Hypospadias, Cryptorchidism, Abnormal cardiac septum morphology, Ambiguous g...	ORPHA:2166
Immunodeficiency 22	Pericarditis, Anemia, Decreased proportion of CD4-positive helper T cells, Ascites, Thrombocytopenia	OMIM:615758
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos	ORPHA:77299
Marburg Hemorrhagic Fever	Elevated hepatic transaminase, Lymphopenia, Reticulocytosis, Pericarditis, Renal insufficiency, O...	ORPHA:99826
Wiskott-Aldrich Syndrome	Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytopenia, Chronic le...	ORPHA:906
Blue Rubber Bleb Nevus	Iron deficiency anemia, Abnormality of the liver, Thrombocytopenia	OMIM:112200
Proteasome-Associated Autoinflammatory Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Parotitis, Microcytic anemia, Cardiomegaly, Splenome...	OMIM:256040
Ogden Syndrome	Global glomerulosclerosis, Bicuspid aortic valve, Left atrial enlargement, Ventricular septal def...	OMIM:300855
Focal Dermal Hypoplasia	Anophthalmia, Supernumerary nipple, Cryptorchidism, Optic atrophy, Hypoplastic nipples, Chorioret...	OMIM:305600
Carney Triad	Mediastinal lymphadenopathy, Lymphadenopathy, Pheochromocytoma, Ascites, Anemia	ORPHA:139411
Multiple Myeloma	Splenomegaly, Lymphadenopathy, Nephrotic syndrome, Nephropathy, Acute kidney injury, Anemia	ORPHA:29073
Ebola Hemorrhagic Fever	Acute pancreatitis, Hepatitis, Leukopenia, Lymphopenia, Thrombocytopenia	ORPHA:319218
Atelis Syndrome 2	Supravalvar pulmonary stenosis, Anemia, Pulmonic stenosis, Microphthalmia, Thrombocytopenia	OMIM:620185
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Leukocytosis, Increased proportion of CD4-positive T cells, Lymphadenopathy	OMIM:617099
Chromosome 17Q12 Duplication Syndrome	Atrial septal defect, Microphthalmia	OMIM:614526
Oculofaciocardiodental Syndrome	Microphthalmia, Abnormal cardiac septum morphology, Mitral valve prolapse	ORPHA:2712
Cushing Syndrome Due To Ectopic Acth Secretion	Increased urinary cortisol level, Pancreatic adenocarcinoma, Adrenal hyperplasia, Diabetes mellit...	ORPHA:99889
Insulin-Resistance Syndrome Type B	Enlarged ovaries, Proteinuria, Enlarged polycystic ovaries, Biliary cirrhosis, Polycystic ovaries...	ORPHA:2298
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Absent gallbladder, Septate vagina, Complete atrioventricular canal defect, Uterus didelphys, Mic...	OMIM:617925
Ring Chromosome 10 Syndrome	Microphthalmia	ORPHA:1438
Neuroendocrine Tumor Of Stomach	Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulm...	ORPHA:100075
Ivic Syndrome	Leukocytosis, Tetralogy of Fallot, Rectovaginal fistula, Thrombocytopenia	OMIM:147750
Adams-Oliver Syndrome 2	Microphthalmia	OMIM:614219
Joubert Syndrome 2	Renal insufficiency, Renal cyst, Nephronophthisis, Hypoplastic male external genitalia, Microphth...	OMIM:608091
Myelofibrosis	Splenomegaly, Myeloproliferative disorder	OMIM:254450
Diamond-Blackfan Anemia 1	Macrocytic anemia, Ventricular septal defect, Tricuspid stenosis, Congenital hypoplastic anemia, ...	OMIM:105650
Spondyloenchondrodysplasia With Immune Dysregulation	Autoimmune thrombocytopenia, Lymphadenopathy, T lymphocytopenia, Neutropenia, Lymphopenia, Tubulo...	OMIM:607944
Mosaic Variegated Aneuploidy Syndrome	Atrial septal defect, Multicystic kidney dysplasia, Vaginal neoplasm, Acute lymphoblastic leukemi...	ORPHA:1052
Systemic Lupus Erythematosus	Hemolytic anemia, Proteinuria, Lupus nephritis, Pyuria, Lymphadenopathy, Hematuria, Leukopenia, T...	ORPHA:536
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Amegakaryocytic thrombocytopenia, Aplastic anemia, Congenital thrombocytopenia	OMIM:605432
Heart And Brain Malformation Syndrome	Microphthalmia, Ventricular septal defect	OMIM:616920
Leptospirosis	Hepatomegaly, Pericarditis, Cellular urinary casts, Jaundice, Hepatitis, Lymphadenopathy, Elevate...	ORPHA:509
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Microphthalmia	OMIM:152950
Sarcoidosis, Susceptibility To, 1	Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Pericardial effusion, Splenomegaly, Medi...	OMIM:181000
Steinfeld Syndrome	Microphthalmia, Abnormal heart morphology, Absent gallbladder	OMIM:184705
Kawasaki Disease	Pericarditis, Abnormal heart valve morphology, Proteinuria, Myocarditis, Leukocytosis, Cervical l...	ORPHA:2331
Quebec Platelet Disorder	Thrombocytopenia, Impaired epinephrine-induced platelet aggregation	OMIM:601709
Monosomy 18P	Microphthalmia	ORPHA:1598
Deeah Syndrome	Decreased hemoglobin concentration, Hepatomegaly, Decreased response to growth hormone stimulatio...	OMIM:619004
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Renal insufficiency, Ketonuria, Megaloblastic anemia, Hemolytic-uremic syndrome, Jaundice, Dilate...	ORPHA:79282
Hereditary Folate Malabsorption	Pancytopenia, Eosinophilia, Thrombocytopenia, Megaloblastic anemia	ORPHA:90045
Hellp Syndrome	Elevated hepatic transaminase, Hemolytic anemia, Decreased mean corpuscular hemoglobin concentrat...	ORPHA:244242
Aicardi-Goutières Syndrome	Elevated hepatic transaminase, Neonatal alloimmune thrombocytopenia, Cardiomegaly, Chronic lympha...	ORPHA:51
Microphthalmia With Limb Anomalies	Microphthalmia, Cryptorchidism, Optic atrophy, True anophthalmia	ORPHA:1106
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Hypospadias, Ventricular septal defect, Cryptorchidism, Renal cyst, Vesicoureteral reflux, Microp...	OMIM:616975
Fraser Syndrome 1	Anophthalmia, Cryptorchidism, Abnormal thymus morphology, Bilateral microphthalmos	OMIM:219000
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Renal insufficiency, Proteinuria, Megaloblastic anemia, Hemolytic-uremic syndrome, Cystathioninur...	OMIM:277400
8Q21.11 Microdeletion Syndrome	Microphthalmia, Hypoplasia of penis, Cryptorchidism	ORPHA:284160
Behçet Disease	Pericarditis, Renal insufficiency, Orchitis, Splenomegaly, Endocarditis, Lymphadenopathy, Abnorma...	ORPHA:117
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Abnormal heart morphology, Abnormality of the liver, Hypertrophic cardiomyopathy, Ascites, Thromb...	ORPHA:464321
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Dilated cardiomyopathy, Myocardial fibrosis, Transposition of the great arteries, Pulmonic stenos...	OMIM:253800
Dubowitz Syndrome	Hypoparathyroidism, Hypospadias, Abnormality of neutrophils, Cryptorchidism, Acute lymphoblastic ...	ORPHA:235
Cockayne Syndrome B	Hepatomegaly, Renal insufficiency, Proteinuria, Splenomegaly, Cryptorchidism, Hypoplasia of the i...	OMIM:133540
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Microphthalmia, Supernumerary nipple	OMIM:620098
Immunodeficiency 31C	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an...	OMIM:614162
Myoclonic-Astatic Epilepsy	Microphthalmia	ORPHA:1942
Focal Dermal Hypoplasia	Acute hepatic failure, Multicystic kidney dysplasia, Ventricular septal defect, Horseshoe kidney,...	ORPHA:2092
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microphthalmia, Abnormal heart morphology	OMIM:618571
Fetal Alcohol Syndrome	Atrial septal defect, Microphthalmia	ORPHA:1915
Familial Tumoral Calcinosis	Nephrocalcinosis, Splenomegaly, Hepatomegaly	ORPHA:53715
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Microphthalmia, Optic nerve hypoplasia	OMIM:614833
Trisomy 18	Ventricular septal defect, Cryptorchidism, Atrial septal defect, Microphthalmia, Abnormal morphol...	ORPHA:3380
Blau Syndrome	Pericarditis, Splenomegaly, Stage 5 chronic kidney disease, Lymphadenopathy, Abnormality of the l...	ORPHA:90340
Pulmonary Capillary Hemangiomatosis	Pericardial effusion, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:199241
Frontonasal Dysplasia 3	Microphthalmia	OMIM:613456
Congenital Erythropoietic Porphyria	Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegaly, Red-brown urine, Porphyrinuria, Le...	ORPHA:79277
Temtamy Syndrome	Microphthalmia	OMIM:218340
Treacher-Collins Syndrome	Hypoplasia of penis, Small scrotum, Cryptorchidism, Hypoplasia of the thymus, Rectovaginal fistul...	ORPHA:861
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Absent nipple, Aplasia of the thymus, Hydrocele testis, Hypoplastic nipples, Prolonged neonatal j...	OMIM:620186
Ohdo Syndrome, X-Linked	Small scrotum, Cryptorchidism, Shawl scrotum, Microphthalmia, Micropenis	OMIM:300895
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia	OMIM:604229
Diamond-Blackfan Anemia 21	Secundum atrial septal defect, Erythroid hypoplasia, Thrombocytopenia, Anemia	OMIM:620072
Incontinentia Pigmenti	Hypoplasia of the fovea, Eosinophilia, Supernumerary nipple, Leukocytosis, Breast aplasia, Hypopl...	OMIM:308300
Chromosome 8Q21.11 Deletion Syndrome	Microphthalmia, Micropenis, Cryptorchidism	OMIM:614230
Linear Skin Defects With Multiple Congenital Anomalies 3	Histiocytoid cardiomyopathy, Microphthalmia, Dilated cardiomyopathy, Thyroid C cell hyperplasia	OMIM:300952
Cerebrooculofacioskeletal Syndrome 4	Bilateral microphthalmos, Abnormal heart morphology	OMIM:610758
Agammaglobulinemia 9, Autosomal Recessive	Thrombocytopenia, Absent circulating B cells	OMIM:619693
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Reticulocytosis, Anuria, Leukocytosis, Schistocytosis, Peritonitis, Hemoglobinuria, Microangiopat...	ORPHA:90038
Ivic Syndrome	Leukocytosis, Rectovaginal fistula, Thrombocytopenia	ORPHA:2307
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Absent p...	OMIM:600802
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Atrial septal defect, Thrombocytopenia	ORPHA:457351
Roberts Syndrome	Thrombocytopenia, Cryptorchidism, Long penis, Polycystic kidney dysplasia, Microphthalmia, Clitor...	ORPHA:3103
Nance-Horan Syndrome	Microphthalmia	ORPHA:627
Von Willebrand Disease, Type 3	Impaired platelet aggregation, Thrombocytopenia	OMIM:277480
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia	OMIM:167730
Holocarboxylase Synthetase Deficiency	Elevated urinary 3-methylcrotonylglycine level, Organic aciduria, 3-hydroxyisovaleric aciduria, T...	OMIM:253270
Teebi-Shaltout Syndrome	Ureteral stenosis, Ventricular septal defect, Horseshoe kidney, Microphthalmia, Aortic valve sten...	OMIM:272950
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Microphthalmia, Abnormally large globe	OMIM:615249
Okamoto Syndrome	Ureteropelvic junction obstruction, Ventricular septal defect, Urinary incontinence, Bifid uterus...	ORPHA:2729
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Cryptorchidism, Renal hypoplasia, Renal cyst, Ambiguous genitalia, Microphthalmia	OMIM:616300
Cutaneous Neuroendocrine Carcinoma	Lymphoid leukemia, Chronic noninfectious lymphadenopathy	ORPHA:79140
Immunodeficiency 55	Absent natural killer cells, Lymphopenia, Neutropenia, Lymphadenopathy	OMIM:617827
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Renal insufficiency, Proteinuria, Nephrotic syndrome, Normochromic anemia, Focal segmental glomer...	OMIM:254900
Trichothiodystrophy 4, Nonphotosensitive	Microphthalmia, Ventricular septal defect	OMIM:234050
Bartsocas-Papas Syndrome 1	Absent external genitalia, Bilateral cryptorchidism, Ectopic kidney, Hypoplastic labia majora, Bi...	OMIM:263650
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Splenomegaly, Vacuolated lymphocytes, Abnormal cardiomyocyte morphology, Cardiomyop...	ORPHA:565612
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Microphthalmia, Abnormal cardiac septum morphology	ORPHA:1352
Dubowitz Syndrome	Aplastic anemia, Hypospadias, Cryptorchidism, Hypoplasia of the iris, Acute lymphoblastic leukemi...	OMIM:223370
Idiopathic Uveal Effusion Syndrome	Microphthalmia	ORPHA:209956
Acute Radiation Syndrome	Lymphopenia, Granulocytopenia, Thrombocytopenia	ORPHA:454831
Wars2-Related Combined Oxidative Phosphorylation Defect	Cardiomyopathy, Thrombocytopenia	ORPHA:572798
Selective Igm Deficiency	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Lymphadenitis, Decreas...	ORPHA:331235
Neuroendocrine Neoplasm Of Appendix	Elevated hepatic transaminase, Hepatomegaly, Tricuspid stenosis, Chronic noninfectious lymphadeno...	ORPHA:100079
Bartsocas-Papas Syndrome 2	Microphthalmia	OMIM:619339
Beckwith-Wiedemann Syndrome	Hepatomegaly, Ureteral duplication, Cardiomegaly, Splenomegaly, Cryptorchidism, Abnormal pancreas...	ORPHA:116
Townes-Brocks Syndrome	Bifid scrotum, Hypoplasia of penis, Rectoperineal fistula, Hypospadias, Abnormal pulmonary valve ...	ORPHA:857
2Q31.1 Microdeletion Syndrome	Atrial septal defect, Microphthalmia, Ventricular septal defect, Cryptorchidism	ORPHA:251014
Adams-Oliver Syndrome 1	Bicuspid aortic valve, Ventricular septal defect, Supernumerary nipple, Hypoplastic left heart, P...	OMIM:100300
Apolipoprotein C-Ii Deficiency	Splenomegaly, Pancreatitis, Hepatomegaly	OMIM:207750
Cockayne Syndrome	Elevated hepatic transaminase, Hepatomegaly, Neurogenic bladder, Renal insufficiency, Proteinuria...	ORPHA:191
Autosomal Recessive Malignant Osteopetrosis	Hepatomegaly, Abnormal pulmonary valve morphology, Splenomegaly, Lymphadenopathy, Anemia	ORPHA:667
Phace Association	Microphthalmia, Ventricular septal defect, Optic nerve hypoplasia, Lingual thyroid	OMIM:606519
Igg4-Related Ophthalmic Disease	Eosinophilia, Cholangitis, Retroperitoneal fibrosis, Orchitis, Abnormality of the anterior pituit...	ORPHA:449563
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
Cousin Syndrome	Microphthalmia, Ambiguous genitalia, female, Ambiguous genitalia, male, Hydronephrosis	OMIM:260660
Oculocerebrorenal Syndrome Of Lowe	Hyperparathyroidism, Renal insufficiency, Proteinuria, Thrombocytopenia, Cryptorchidism, Proximal...	ORPHA:534
Malt Lymphoma	Mediastinal lymphadenopathy, Anemia, Lymphadenopathy	ORPHA:52417
3Q29 Microduplication Syndrome	Aniridia, Microphthalmia, Ventricular septal defect	ORPHA:251038
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Microphthalmia	OMIM:300863
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Hepatomegaly, Splenomegaly, Hydrometrocolpos, Horseshoe kidney, Atrioventricular canal defect, Va...	OMIM:617088
X-Linked Dominant Chondrodysplasia Punctata	Microphthalmia, Hydronephrosis	ORPHA:35173
Branchiooculofacial Syndrome	Anophthalmia, Supernumerary nipple, Cryptorchidism, Retinal coloboma, Microphthalmia, Ectopic thy...	OMIM:113620
Paroxysmal Nocturnal Hemoglobinuria	Hemosiderinuria, Hemolytic anemia, Reticulocytosis, Pancytopenia, Renal insufficiency, Proteinuri...	ORPHA:447
Autosomal Dominant Keratitis	Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A...	ORPHA:2334
Pelvis-Shoulder Dysplasia	Ambiguous genitalia, Bilateral microphthalmos, Hydronephrosis	ORPHA:2839
Skin Creases, Congenital Symmetric Circumferential, 1	Microphthalmia, Hypoplastic nipples	OMIM:156610
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Hypochromic microcytic anemia, Thrombocytopenia	ORPHA:3240
Recon Progeroid Syndrome	Thrombocytopenia, Anemia	OMIM:620370
Chromosome 13Q14 Deletion Syndrome	Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Microphthalmia, Micropenis, Pate...	OMIM:613884
Multiple Endocrine Neoplasia Type 2	Cervical neoplasm, Elevated urinary catecholamine level, Thyroid C cell hyperplasia, Elevated uri...	ORPHA:653
Doors Syndrome	Adrenal hyperplasia, Optic atrophy, Congenital hypothyroidism	ORPHA:79500
Frontonasal Dysplasia 2	Bilateral cryptorchidism, Microphthalmia	OMIM:613451
Rift Valley Fever	Elevated hepatic transaminase, Jaundice, Hepatitis, Anemia, Hematuria, Thrombocytopenia	ORPHA:319251
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Bifid scrotum, Hypospadias, Cryptorchidism, Horseshoe kidney, Clitoral hypoplasia, Total anomalou...	OMIM:609945
Fraser Syndrome	Microphthalmia, Cryptorchidism, Anophthalmia	ORPHA:2052
Otodental Syndrome	Microphthalmia, Lens coloboma	ORPHA:2791
Frontofacionasal Dysplasia	Microphthalmia	ORPHA:1791
Tick-Borne Encephalitis	Elevated hepatic transaminase, Leukocytosis, Leukopenia, Abnormal myocardium morphology, Thromboc...	ORPHA:297
Renpenning Syndrome 1	Hypospadias, Ventricular septal defect, Phimosis, Situs inversus totalis, Renal hypoplasia, Atria...	OMIM:309500
Thrombocytopenia 6	Thrombocytopenia	OMIM:616937
Neuroleptic Malignant Syndrome	Elevated hepatic transaminase, Proteinuria, Urinary incontinence, Leukocytosis, Thrombocytosis, M...	ORPHA:94093
Trichothiodystrophy	Ventricular septal defect, Cryptorchidism, Bilateral microphthalmos, Increased mean corpuscular h...	ORPHA:33364
Hyperlipoproteinemia, Type I	Splenomegaly, Jaundice, Pancreatitis, Hepatosplenomegaly	OMIM:238600
Yunis-Varon Syndrome	Hypospadias, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Bilateral microphthalmos, R...	ORPHA:3472
Phace Syndrome	Optic nerve hypoplasia, Lens coloboma, Abnormal heart morphology, Abnormal cardiac septum morphol...	ORPHA:42775
Galloway-Mowat Syndrome 3	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Glo...	OMIM:617729
Acro-Renal-Ocular Syndrome	Optic disc hypoplasia, Horseshoe kidney, Bladder diverticulum, Vesicoureteral reflux, Microphthal...	ORPHA:959
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Thrombocytopenia, Bone marrow hypocellularity, Anemia	OMIM:612199
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Microphthalmia	ORPHA:163966
Trichothiodystrophy 1, Photosensitive	Microphthalmia, Hypogonadism	OMIM:601675
Biliary, Renal, Neurologic, And Skeletal Syndrome	Anterior pituitary hypoplasia, Secundum atrial septal defect, Primum atrial septal defect, Inlet ...	OMIM:619534
Hemorrhagic Fever-Renal Syndrome	Elevated hepatic transaminase, Anuria, Proteinuria, Glomerulonephritis, Leukocytosis, Chronic kid...	ORPHA:340
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Lymphadenopathy, Anemia, Hepatosplenomegaly	ORPHA:85408
Basal Cell Nevus Syndrome 1	Ovarian fibroma, Cardiac fibroma, Cardiac rhabdomyoma, Ovarian carcinoma, Microphthalmia	OMIM:109400
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Follicular hyperplasia, Splenomegaly, Hepatitis, Lymphaden...	OMIM:619381
Galloway-Mowat Syndrome 1	Diffuse mesangial sclerosis, Renal insufficiency, Proteinuria, Hypoplasia of the iris, Nephrotic ...	OMIM:251300
Mend Syndrome	Microphthalmia, Aortic valve stenosis, Abnormal heart morphology, Cryptorchidism	ORPHA:401973
Infection-Related Hemolytic Uremic Syndrome	Hemolytic anemia, Anuria, Myocarditis, Leukocytosis, Oliguria, Decreased urine output, Acute kidn...	ORPHA:544482
Coloboma, Ocular, Autosomal Dominant	Microphthalmia, Optic nerve aplasia, Vesicoureteral reflux	OMIM:120200
Microphthalmia, Isolated, With Corectopia	Microphthalmia	OMIM:156900
Anterior Segment Dysgenesis 2	Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia	OMIM:610256
Vexas Syndrome	Macrocytic anemia, Thrombocytopenia	OMIM:301054
Roberts-Sc Phocomelia Syndrome	Accessory spleen, Hypospadias, Enlarged labia minora, Ventricular septal defect, Cryptorchidism, ...	OMIM:268300
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Buphthalmos, Microphthalmia	OMIM:212550
Bosma Arhinia Microphthalmia Syndrome	Hypogonadotropic hypogonadism, Hypospadias, Cryptorchidism, Hypoplastic labia majora, Microphthal...	OMIM:603457
Mycophenolate Mofetil Embryopathy	Microphthalmia, Ventricular septal defect, Ectopic kidney	ORPHA:268249
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Optic nerve hypoplasia, Cryptorchidism, Buphthalmos, Hypoplastic male external genitalia, Microph...	OMIM:236670
Cornea Plana 2, Autosomal Recessive	Microphthalmia	OMIM:217300
Fetal And Neonatal Alloimmune Thrombocytopenia	Hematuria, Neonatal alloimmune thrombocytopenia	ORPHA:853
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Microphthalmia, Overriding aorta, Tetralogy of Fallot, Absent gallbladder	ORPHA:3186
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Bilateral microphthalmos, Optic nerve hypoplasia	OMIM:607597
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia, Bilateral microphthalmos	ORPHA:2399
Anterior Segment Dysgenesis 7	Buphthalmos, Microphthalmia	OMIM:269400
Chondrodysplasia Punctata 2, X-Linked Dominant	Microphthalmia, Hydronephrosis	OMIM:302960
Rodrigues Blindness	Microphthalmia	OMIM:268320
Rothmund-Thomson Syndrome, Type 2	Microphthalmia, Annular pancreas, Hypogonadism, Cryptorchidism	OMIM:268400
Blepharophimosis, Ptosis, And Epicanthus Inversus	Hypoplasia of the uterus, Microphthalmia, Increased circulating gonadotropin level	OMIM:110100
Xeroderma Pigmentosum, Complementation Group B	Microphthalmia, Hypogonadism	OMIM:610651
Pallister-Hall Syndrome	Small scrotum, Ectopic kidney, Gonadotropin deficiency, Atrial septal defect, Micropenis, Atriove...	ORPHA:672
Vitreoretinochoroidopathy	Microphthalmia	OMIM:193220
Thrombocytopenia 3	Thrombocytopenia, Decreased mean platelet volume	OMIM:273900
Pelvis-Shoulder Dysplasia	Microphthalmia	OMIM:169550
Ectodermal Dysplasia And Immunodeficiency 2	Aplasia of the sweat glands, Splenomegaly, Hepatomegaly	OMIM:612132
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Thrombocytopenia	OMIM:612394
Fontaine Progeroid Syndrome	Atrial septal defect, Small scrotum, Absent nipple, Bicuspid aortic valve, Cryptorchidism, Abnorm...	OMIM:612289
Johanson-Blizzard Syndrome	Hepatic fibrosis, Atrial septal defect, Micropenis, Hepatomegaly, Hypospadias, Elevated circulati...	OMIM:243800
Yellow Fever	Acute pancreatitis, Neutrophilia, Anuria, Elevated circulating aspartate aminotransferase concent...	ORPHA:99829
Curry-Jones Syndrome	Microphthalmia	ORPHA:1553
Incontinentia Pigmenti	Microphthalmia, Eosinophilia, Supernumerary nipple	ORPHA:464
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Microphthalmia	OMIM:617306
Monosomy 9Q22.3	Microphthalmia, Ovarian fibroma, Cardiac fibroma	ORPHA:77301
Hallermann-Streiff Syndrome	Microphthalmia, Abdominal situs inversus, Cryptorchidism	ORPHA:2108
Familial Exudative Vitreoretinopathy	Microphthalmia	ORPHA:891
Frontorhiny	Microphthalmia, Hypopituitarism	ORPHA:391474
Nijmegen Breakage Syndrome	Autoimmune hemolytic anemia, T lymphocytopenia, B lymphocytopenia, Hydronephrosis, Thrombocytopenia	OMIM:251260
Wiskott-Aldrich Syndrome	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m...	OMIM:301000
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Microphthalmia, Supernumerary nipple	ORPHA:1236
Kenny-Caffey Syndrome, Type 2	Hypoparathyroidism, Microphthalmia, Anemia	OMIM:127000
Microphthalmia, Isolated, With Coloboma 9	Microphthalmia	OMIM:615145
Monosomy 9P	Hypospadias, Cryptorchidism, Ambiguous genitalia, Microphthalmia, Ureteropelvic junction obstruction	ORPHA:261112
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Generalized lymphadenopathy	OMIM:620232
Hallermann-Streiff Syndrome	Microphthalmia, Cryptorchidism	OMIM:234100
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Buphthalmos, Microphthalmia	OMIM:616538
Lymphedema-Distichiasis Syndrome	Microphthalmia, Tetralogy of Fallot, Ventricular septal defect	OMIM:153400
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microphthalmia	ORPHA:231736
Myhre Syndrome	Ventricular septal defect, Pericardial effusion, Cryptorchidism, Atrial septal defect, Microphtha...	OMIM:139210
Oculodentodigital Dysplasia, Autosomal Recessive	Microphthalmia	OMIM:257850
Thrombocytopenia 1	Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent thrombocytopenia	OMIM:313900
Ectodermal Dysplasia-Blindness Syndrome	Microphthalmia	ORPHA:1806
Skin Creases, Congenital Symmetric Circumferential, 2	Small scrotum, Hypospadias, Cryptorchidism, Ureterocele, Microphthalmia	OMIM:616734
Adenocarcinoma Of The Anal Canal	Neoplasm of the liver, Lymphadenopathy	ORPHA:424016
Noonan Syndrome 1	Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Hypospadias, Ventricular sept...	OMIM:163950
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Hypospadias, Optic nerve hypoplasia, Unilateral renal agenesis, Cryptorchidism, Bilateral microph...	ORPHA:468631
Pierson Syndrome	Diffuse mesangial sclerosis, Rieger anomaly, Hypoplasia of the ciliary body, Proteinuria, Stage 5...	OMIM:609049
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Bifid scrotum, Bicuspid aortic valve, Urinary incontinence, Asplenia, Vesicoureteral reflux, Webb...	ORPHA:261537
8Q24.3 Microdeletion Syndrome	Ectopic posterior pituitary, Ventricular septal defect, Optic nerve hypoplasia, Unilateral renal ...	ORPHA:508488
African Trypanosomiasis	Hepatomegaly, Pericarditis, Renal insufficiency, Urinary incontinence, Splenomegaly, Jaundice, My...	ORPHA:3385
Aicardi Syndrome	Hepatoblastoma, Microphthalmia, Precocious puberty	ORPHA:50
Oculodentodigital Dysplasia	Atrial septal defect, Microphthalmia, Neurogenic bladder	OMIM:164200
Nijmegen Breakage Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Acute leukemia, Pollakisuria, Thrombocytopenia	ORPHA:647
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Mowat-Wilson Syndrome	Bifid scrotum, Bicuspid aortic valve, Urinary incontinence, Asplenia, Vesicoureteral reflux, Webb...	ORPHA:2152
Acute Liver Failure	Elevated hepatic transaminase, Jaundice, Hepatitis, Hepatic necrosis, Hepatocellular necrosis, He...	ORPHA:90062
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Bifid scrotum, Bicuspid aortic valve, Urinary incontinence, Asplenia, Vesicoureteral reflux, Webb...	ORPHA:261552
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Buphthalmos, Microphthalmia	OMIM:613150
Aicardi Syndrome	Hepatoblastoma, Microphthalmia, Precocious puberty	OMIM:304050
Mowat-Wilson Syndrome	Bifid scrotum, Hypospadias, Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Abno...	OMIM:235730
Microcephaly-Micromelia Syndrome	Microphthalmia	OMIM:251230
Nance-Horan Syndrome	Microphthalmia	OMIM:302350
Microphthalmia, Syndromic 1	Anophthalmia, Cryptorchidism, Optic disc coloboma, Chorioretinal coloboma, Microphthalmia	OMIM:309800
Autosomal Dominant Kenny-Caffey Syndrome	Congenital hypoparathyroidism, Bilateral microphthalmos, Decreased testicular size, Anemia	ORPHA:93325
Premature Aging Syndrome, Penttinen Type	Microphthalmia	OMIM:601812
Treacher Collins Syndrome 1	Cryptorchidism, Bilateral microphthalmos, Abnormal parotid gland morphology, Abnormal heart morph...	OMIM:154500
Holoprosencephaly 1	Microphthalmia, Micropenis, Single ventricle	OMIM:236100
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Microphthalmia	OMIM:618727
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Microphthalmia, Optic nerve hypoplasia	OMIM:614643
Persistent Hyperplastic Primary Vitreous	Buphthalmos, Microphthalmia, Phthisis bulbi, Macular hypoplasia	ORPHA:91495
Lowe Oculocerebrorenal Syndrome	Renal insufficiency, Hyperphosphaturia, Cryptorchidism, Bicarbonaturia, Proximal renal tubular ac...	OMIM:309000
Osteogenesis Imperfecta	Abnormal endocardium morphology, Hypercalciuria, Nephrolithiasis, Mitral valve prolapse, Thromboc...	ORPHA:666
Linear Nevus Sebaceus Syndrome	Microphthalmia, Adenoma sebaceum	ORPHA:2612
Momo Syndrome	Bilateral microphthalmos	ORPHA:2563
Neu-Laxova Syndrome 1	Ventricular septal defect, Bifid uterus, Cryptorchidism, Transposition of the great arteries, Mic...	OMIM:256520
Oculopalatocerebral Syndrome	Microphthalmia	OMIM:257910
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Microphthalmia	ORPHA:85167
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Buphthalmos, Microphthalmia, Phthisis bulbi	OMIM:221900
Xeroderma Pigmentosum, Complementation Group D	Microphthalmia	OMIM:278730
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Microphthalmia	ORPHA:364577
Exercise-Induced Malignant Hyperthermia	Oliguria, Decreased liver function, Hepatic failure, Acute kidney injury, Thrombocytopenia	ORPHA:466650
Oculoauricular Syndrome	Microphthalmia, Phthisis bulbi, Macular hypoplasia, Microphakia	OMIM:612109
Plague	Hepatomegaly, Splenomegaly, Lymphadenitis, Endocarditis, Enlarged mesenteric lymph node	ORPHA:707
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Microphthalmia, Ventricular septal defect, Ventricular septal hypertrophy	OMIM:608670
Curry-Jones Syndrome	Microphthalmia	OMIM:601707
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia, Phthisis bulbi, Ventricular septal defect	OMIM:259770
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Bicuspid aortic valve, Muscular ventricular septal defect, Perimembranous ventricular septal defe...	OMIM:612474
Chikungunya	Cervical lymphadenopathy, Lymphadenopathy	ORPHA:324625
Holoprosencephaly 7	Microphthalmia, Bilateral microphthalmos, Panhypopituitarism	OMIM:610828
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Microphthalmia, Homocystinuria	OMIM:601552
Witteveen-Kolk Syndrome	Hypospadias, Decreased response to growth hormone stimulation test, Unilateral cryptorchidism, Ph...	OMIM:613406
Craniofacial Microsomia 1	Microphthalmia, Anophthalmia	OMIM:164210
Acrofrontofacionasal Dysostosis 1	Microphthalmia	OMIM:201180
Oculo-Palato-Cerebral Syndrome	Microphthalmia	ORPHA:2714
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Microphthalmia, Tetralogy of Fallot	ORPHA:306542
Isolated Arrhinia	Microphthalmia	ORPHA:1134
Neuroocular Syndrome	Hypoplasia of the fovea, Microphthalmia, Lens coloboma, Patent foramen ovale	OMIM:619539
Norrie Disease	Aplasia/Hypoplasia of the lens, Cryptorchidism, Hypoplasia of the iris, Uterine rupture, Micropht...	ORPHA:649
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Buphthalmos, Microphthalmia, Hypoplasia of the retina	OMIM:253280
Holoprosencephaly 2	Microphthalmia, Anterior pituitary agenesis, Single ventricle	OMIM:157170
Monosomy 13Q14	Microphthalmia	ORPHA:1587
Frontofacionasal Dysplasia	Microphthalmia	OMIM:229400
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hypoplasia of the iris, Microphthalmia, Hemolytic anemia	OMIM:175780

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Gp2

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Gp2.

No publications found that use IMPC mice or data for Gp2.

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

MGI Allele	Allele Type	Produced
Gp2^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Gp2^em1(IMPC)Mbp	Exon Deletion	Mice, Tissue
Gp2^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Gp2 MGI:1914383

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

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X-ray

Human diseases caused by Gp2 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data