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Gene: Pdk2 MGI:1343087

Gene Summary

Name:

pyruvate dehydrogenase kinase, isoenzyme 2

Synonyms:

N/A

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
abnormal lymph node morphology	Pdk2^em1(IMPC)Mbp	HOM	Late adult
abnormal spleen morphology	Pdk2^em1(IMPC)Mbp	HOM	Early adult
abnormal uterus morphology	Pdk2^em1(IMPC)Mbp	HOM	Late adult
enlarged kidney	Pdk2^em1(IMPC)Mbp	HOM	Late adult
abnormal brain morphology	Pdk2^em1(IMPC)Mbp	HOM	Late adult
abnormal testis morphology	Pdk2^em1(IMPC)Mbp	HOM	Late adult
abnormal skin morphology	Pdk2^em1(IMPC)Mbp	HOM	Late adult
abnormal kidney morphology	Pdk2^em1(IMPC)Mbp	HOM	Late adult
abnormal spleen morphology	Pdk2^em1(IMPC)Mbp	HOM	Late adult
microphthalmia	Pdk2^em1(IMPC)Mbp	HOM	Late adult
enlarged testis	Pdk2^em1(IMPC)Mbp	HOM	Late adult
enlarged spleen	Pdk2^em1(IMPC)Mbp	HOM	Late adult
enlarged lymph nodes	Pdk2^em1(IMPC)Mbp	HOM	Late adult
abnormal liver morphology	Pdk2^em1(IMPC)Mbp	HOM	Early adult
enlarged spleen	Pdk2^em1(IMPC)Mbp	HOM	Early adult

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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

77 Images

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X-ray

XRay Images Whole Body Lateral Orientation

7 Images

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X-ray

XRay Images Whole Body Lateral Orientation

37 Images

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X-ray

XRay Images Whole Body Dorso Ventral

23 Images

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Human diseases caused by Pdk2 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 Pdk2 (0 diseases)
Human diseases predicted to be associated with Pdk2 (1031 diseases)

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

The table below shows human diseases predicted to be associated to Pdk2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Cephalin Lipidosis	Abnormality of the spleen	OMIM:212800
Tuftsin Deficiency	Abnormality of the spleen	OMIM:191150
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Splenomegaly	ORPHA:2274
Polycystic Kidney Disease 5	Enlarged kidney, Polycystic kidney dysplasia, Hepatosplenomegaly, Hyperechogenic kidneys, Reduced...	OMIM:617610
Hemoglobin H Disease	HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia	OMIM:613978
Ceroid storage disease	Abnormality of the spleen, Hepatic failure	OMIM:214200
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Pancytopenia	OMIM:183350
Hepatorenocardiac Degenerative Fibrosis	Cirrhosis, Jaundice, Enlarged kidney, Tubular luminal dilatation, Hepatocellular carcinoma, Renal...	OMIM:619902
Reticuloendotheliosis, X-Linked	Lymphadenopathy, Jaundice, Hepatosplenomegaly, Anemia	OMIM:312500
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Neutrophilia, Hereditary	Neutrophilia, Splenomegaly	OMIM:162830
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia	OMIM:206400
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis	OMIM:118830
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Enlarged kidney, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Leukopenia, Extramedullary...	OMIM:615285
Persistent Polyclonal B-Cell Lymphocytosis	Lymphocytosis, Hepatomegaly, Splenomegaly	OMIM:606445
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly	OMIM:619813
Tyrosinemia Type 1	Splenomegaly, Hepatomegaly, Acute hepatic failure, Hepatocellular carcinoma	ORPHA:882
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Abnormal lymph node morphology	OMIM:136580
Immunodeficiency 16	Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia	OMIM:615593
Immunodeficiency 38 With Basal Ganglia Calcification	Lymphadenopathy, Axillary lymphadenopathy, Inguinal lymphadenopathy	OMIM:616126
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E...	OMIM:603902
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly, Portal hyper...	OMIM:617068
Sea-Blue Histiocyte Disease	Cirrhosis, Sea-blue histiocytosis, Elevated circulating alanine aminotransferase concentration, T...	OMIM:269600
Proteasome-Associated Autoinflammatory Syndrome 5	Hepatomegaly, Splenomegaly	OMIM:619175
Hepatic Venoocclusive Disease With Immunodeficiency	Abnormality of the liver, Absence of lymph node germinal center	OMIM:235550
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Microcytic anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:231242
Squamous Cell Carcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99977
Hyperbilirubinemia, Shunt, Primary	Jaundice, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Splenomegaly, Erythroid...	OMIM:237800
Red Cell Phospholipid Defect With Hemolysis	Intermittent jaundice, Splenomegaly, Reticulocytosis	OMIM:179700
Erythroleukemia, Familial, Susceptibility To	Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplas...	OMIM:133180
Familial Peripheral Male-Limited Precocious Puberty	Precocious puberty, Oligozoospermia, Macroorchidism, Long penis	ORPHA:3000
Intellectual Developmental Disorder, X-Linked 14	Macroorchidism	OMIM:300062
Immunodeficiency, Common Variable, 6	Enlarged kidney, Hepatomegaly, Nephrotic range proteinuria, Abnormal T cell count, Mesangial Immu...	OMIM:613496
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:52416
Meckel Syndrome, Type 8	Enlarged kidney, Microphthalmia, Anophthalmia, Polycystic kidney dysplasia, Hyperechogenic kidney...	OMIM:613885
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome	Macroorchidism	ORPHA:85320
Hypertriglyceridemia, Transient Infantile	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly, Hepatic fibr...	OMIM:614480
Splenoportal Vascular Anomalies	Cirrhosis, Anomalous splenoportal venous system, Ascites, Splenomegaly, Hepatic fibrosis	OMIM:271500
Pulmonary Nodular Lymphoid Hyperplasia	Plasmacytosis, Mediastinal lymphadenopathy, Follicular hyperplasia	ORPHA:60026
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:231393
Anemia, Congenital Dyserythropoietic, Type Ii	Jaundice, Cholelithiasis, Anemia of inadequate production, Reticulocytosis, Splenomegaly	OMIM:224100
Intellectual Developmental Disorder, X-Linked 2	Macroorchidism	OMIM:300428
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Cardiomegaly, Macroorchidism	OMIM:300886
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Splenomegaly, Portal hypertension	OMIM:610293
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Fetal ascites, Hepatomegaly, Splenomegaly	OMIM:619462
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Jaundice, Cholestasis, Elevated circulating alanine aminotransferase concentration, Hepatic bridg...	OMIM:619658
Mental retardation, x-linked, syndromic, Turner type	Macroorchidism	OMIM:300706
Nephronophthisis 16	Enlarged kidney, Nephronophthisis, Periportal fibrosis, Polycystic kidney dysplasia, Cholestasis,...	OMIM:615382
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Splenomegaly, Microcytic anemia	OMIM:618852
Immunodeficiency 75 With Lymphoproliferation	Follicular hyperplasia, Hepatosplenomegaly, Lymphadenopathy, Decreased proportion of class-switch...	OMIM:619126
Megalencephaly	Macroorchidism, Long penis	ORPHA:2477
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Enlarged kidney, Hepatomegaly, Periportal fibrosis, Tubulointerstitial fibrosis, Polycystic kidne...	OMIM:263200
Matthew-Wood Syndrome	Annular pancreas, Microphthalmia, Aplasia/Hypoplasia of the pancreas, Anophthalmia, Vesicouretera...	ORPHA:2470
Cholestasis, Progressive Familial Intrahepatic, 9	Jaundice, Intrahepatic cholestasis, Hepatomegaly, Fibro-obliterative bile-duct lesion, Portal hyp...	OMIM:619849
Immunodeficiency 42	Hepatomegaly, Hypoplasia of the thymus, Splenomegaly	OMIM:616622
Hemoglobin D Disease	Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ...	ORPHA:90039
Encephalopathy Due To Prosaposin Deficiency	Hepatomegaly, Splenomegaly	ORPHA:139406
Cholestasis, Progressive Familial Intrahepatic, 12	Jaundice, Hepatomegaly, Cholestasis, Elevated circulating alanine aminotransferase concentration,...	OMIM:620010
Nephronophthisis 19	Hepatomegaly, Cholestasis, Bile duct proliferation, Splenomegaly, Hepatic fibrosis, Malformation ...	OMIM:616217
Congenital Bile Acid Synthesis Defect Type 1	Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Bilia...	ORPHA:79301
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune thrombocytope...	ORPHA:444463
Immunodeficiency 104	Splenomegaly, Hepatomegaly, Lymphadenopathy, T lymphocytopenia	OMIM:608971
Bile Acid Synthesis Defect, Congenital, 5	Jaundice, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Hepatomegaly,...	OMIM:616278
Partington Syndrome	Macroorchidism	ORPHA:94083
Congenital Megacalycosis	Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph...	ORPHA:93109
Burkitt Lymphoma	Abnormal lymph node morphology, Abnormality of the ovary, Decreased proportion of CD4-positive he...	ORPHA:543
Microphthalmia, Isolated 4	Microphthalmia, Absent testis	OMIM:613094
Hypereosinophilic Syndrome, Idiopathic	Eosinophilia, Hepatomegaly, Myeloproliferative disorder, Splenomegaly	OMIM:607685
Mast Cell Sarcoma	Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Splenomegaly	ORPHA:66661
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Renal cortical adenoma, Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy, Pa...	ORPHA:97290
Denys-Drash Syndrome	Ambiguous genitalia, male, Enlarged kidney, Gonadal dysgenesis, Focal segmental glomerulosclerosi...	OMIM:194080
Prolactin Deficiency With Obesity And Enlarged Testes	Macroorchidism, Reduced circulating prolactin concentration	OMIM:264120
Kerion Celsi	Lymphadenopathy	ORPHA:499
Renal-Hepatic-Pancreatic Dysplasia 1	Enlarged kidney, Hyperechogenic pancreas, Cholestasis, Biliary cirrhosis, Splenomegaly, Stage 5 c...	OMIM:208540
Renal Dysplasia	Pelvic mass, Enlarged kidney, Urinary incontinence, Renal hypoplasia/aplasia, Abnormal nephron mo...	ORPHA:93108
Immunodeficiency 84	B lymphocytopenia, Splenomegaly	OMIM:619437
Intellectual Developmental Disorder, X-Linked, Syndromic, Shashi Type	Macroorchidism	OMIM:300238
Erythrocytosis, Familial, 8	Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo...	OMIM:222800
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Polycystic ovaries, Enlarged kidney, Enlarged polycystic ovaries, Elevated circulating growth hor...	ORPHA:90301
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Splen...	OMIM:214900
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Anemi...	OMIM:616860
Isolated Splenogonadal Fusion	Abnormal epididymis morphology, Ectopia of the spleen, Bilateral cryptorchidism, Unilateral crypt...	ORPHA:457083
Cholestasis, Progressive Familial Intrahepatic, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentr...	OMIM:602347
Wolman Disease	Hepatomegaly, Acute hepatic failure, Splenomegaly	OMIM:620151
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Aa Amyloidosis	Acute kidney injury, Enlarged kidney, Hepatomegaly, Abnormality of the kidney, Cholestasis, Nephr...	ORPHA:85445
Trimethylaminuria	Anemia, Splenomegaly, Neutropenia	OMIM:602079
Mu-Heavy Chain Disease	Hepatomegaly, Anemia, Lymphadenopathy, Bence Jones Proteinuria, Splenomegaly, Abnormal B cell cou...	ORPHA:100024
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Microphthalmia, Hepatomegaly, Ectopic kidney, Cryptorchidism, Cystic renal dysplasia	OMIM:613730
Spherocytosis, Type 5	Jaundice, Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia...	OMIM:612690
Adenocarcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99976
Galactose Epimerase Deficiency	Jaundice, Splenomegaly, Hepatomegaly	ORPHA:79238
Testicular Regression Syndrome	Abnormal male internal genitalia morphology, Aplasia/Hypoplasia of the testes, Hypoplasia of peni...	ORPHA:983
Cholestasis, Progressive Familial Intrahepatic, 10	Jaundice, Portal fibrosis, Hepatomegaly, Elevated circulating alanine aminotransferase concentrat...	OMIM:619868
17Q11.2 Microduplication Syndrome	Macroorchidism	ORPHA:139474
Sclerosing Cholangitis, Neonatal	Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Chole...	OMIM:617394
Atkin-Flaitz Syndrome	Macroorchidism	ORPHA:1193
Hemochromatosis, Type 2B	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Anemia, Splenom...	OMIM:613313
Nephronophthisis 3	Polyuria, Enlarged kidney, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, Enuresis, Re...	OMIM:604387
Neonatal Severe Primary Hyperparathyroidism	Hepatomegaly, Splenomegaly	ORPHA:417
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Abnormality of the kidney, Liver abscess, Abnormal lymph node morphology, Anemia, Abnormality of ...	ORPHA:54251
Granulomatous Slack Skin	Acute kidney injury, Nephrocalcinosis, Abnormal lymph node morphology	ORPHA:33111
Fragile X Syndrome	Macroorchidism, postpubertal, Congenital macroorchidism	OMIM:300624
Alpha-1-Antitrypsin Deficiency	Cirrhosis, Hepatocellular carcinoma, Elevated circulating hepatic transaminase concentration, Spl...	OMIM:613490
Kaposiform Lymphangiomatosis	Enlarged kidney, Anemia, Abnormality of the lymphatic system, Abnormal spleen morphology, Abnorma...	ORPHA:464329
Intellectual Developmental Disorder, X-Linked 21	Macroorchidism	OMIM:300143
Renal-Hepatic-Pancreatic Dysplasia 2	Enlarged kidney, Hepatomegaly, Cholestasis, Asplenia, Hepatic cysts, Hepatic fibrosis, Malformati...	OMIM:615415
Immunodeficiency With Hyper-Igm, Type 5	Epididymitis, Lymphadenopathy	OMIM:608106
Familial Papillary Or Follicular Thyroid Carcinoma	Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy, Papillary renal cell carci...	ORPHA:319487
Mccune-Albright Syndrome	Hepatocellular adenoma, Pancreatitis, Renal phosphate wasting, Pancytopenia, Cholestasis, Abnorma...	ORPHA:562
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microphthalmia, Hepatomegaly	ORPHA:2432
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:86893
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase con...	OMIM:616828
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, A...	ORPHA:251380
47,Xyy Syndrome	Hypospadias, Azoospermia, Oligozoospermia, Varicocele, Increased circulating gonadotropin level, ...	ORPHA:8
Asplenia, Isolated Congenital	Howell-Jolly bodies, Thrombocytosis, Asplenia	OMIM:271400
Mmep Syndrome	Microphthalmia, Cryptorchidism	ORPHA:3434
Congenital Toxoplasmosis	Microphthalmia, Jaundice, Anemia, Lymphadenopathy, Hepatomegaly, Ascites, Thrombocytopenia, Cardi...	ORPHA:858
Galactosemia Iii	Jaundice, Splenomegaly, Hepatomegaly	OMIM:230350
Progressive Familial Intrahepatic Cholestasis	Jaundice, Cholestasis, Splenomegaly, Hepatomegaly	ORPHA:172
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Jaundice, Cholelithiasis, Normochromic anemia, Nonspherocytic hemolytic anemia...	OMIM:235700
Autosomal Dominant Polycystic Kidney Disease	Enlarged kidney, Hematuria, Decreased glomerular filtration rate, Calcium oxalate nephrolithiasis...	ORPHA:730
Autoimmune Lymphoproliferative Syndrome, Type Iii	Autoimmune hemolytic anemia, Stage 5 chronic kidney disease, Hepatomegaly, Mediastinal lymphadeno...	OMIM:615559
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
Renal Hypodysplasia/Aplasia 3	Vesicoureteral reflux, Renal agenesis, Hydronephrosis, Abnormality of the uterus, Renal dysplasia...	OMIM:617805
X-Linked Intellectual Disability, Shashi Type	Macroorchidism	ORPHA:85286
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Anemia, Congenital Dyserythropoietic, Type Ib	Jaundice, Anemia, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Poikilocytosis,...	OMIM:615631
Nephronophthisis 2	Chronic tubulointerstitial nephritis, Enlarged kidney, Nephronophthisis, Renal cortical microcyst...	OMIM:602088
Hemihyperplasia-Multiple Lipomatosis Syndrome	Enlarged kidney, Abnormality of the lymphatic system, Nephroblastoma, Ovarian serous cystadenoma,...	ORPHA:276280
Alpha-Heavy Chain Disease	Hepatomegaly, Anemia, Lymphadenopathy, Ascites, Splenomegaly	ORPHA:100025
H Syndrome	Abnormality of the kidney, Enlarged kidney, Lymphadenopathy, Azoospermia, Decreased testicular si...	ORPHA:168569
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Jaundice, Hemophagocytosis, Anemia, Lymphadenopathy, Thrombocytopenia, Splenomegaly...	OMIM:603552
Spherocytosis, Type 1	Jaundice, Cholelithiasis, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:182900
Thrombocythemia 1	Thrombocytosis, Splenomegaly	OMIM:187950
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Macroorchidism	ORPHA:3077
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Genital ulcers, Hepatomegaly, Aplasia of the thymus, B lymphocytopenia, Eosinophilia, Lymph node ...	OMIM:602450
Microphthalmia, Syndromic 12	Microphthalmia, Cryptorchidism, Bicornuate uterus, Anophthalmia	OMIM:615524
Immunodeficiency 69	Anemia, Hemophagocytosis, Pancytopenia, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Thrombocy...	OMIM:618963
Kimura Disease	Follicular hyperplasia, Eosinophilia, Abnormal salivary gland morphology, Lymphadenopathy	ORPHA:482
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Renal hypoplasia/aplasia, Anemia, Hypospadias, Hypoplasia of penis, Ascites, Abnormality of the u...	ORPHA:1046
Xp22.13P22.2 Duplication Syndrome	Polycystic ovaries, Macroorchidism	ORPHA:284180
Gombo Syndrome	Microphthalmia	OMIM:233270
Ras-Associated Autoimmune Leukoproliferative Disorder	Hepatomegaly, Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocyto...	OMIM:614470
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Fluctuating splenomegaly, Lymphadenopathy, Neutropenia in presence o...	OMIM:619220
Clark-Baraitser syndrome	Macroorchidism	OMIM:300602
B-Cell Expansion With Nfkb And T-Cell Anergy	Increased B cell count, Splenomegaly	OMIM:616452
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased proportion of t...	OMIM:615513
Immunodeficiency 76	Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Splenomegaly, Lymphopenia	OMIM:619164
Functioning Gonadotropic Adenoma	Decreased response to growth hormone stimulation test, Isosexual precocious puberty, Pituitary go...	ORPHA:91348
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatomegaly, Hepatic bridging fibrosis, Splenomegaly, Hepatic fibrosis, Hepatic failure	OMIM:616719
Congenital Fibrinogen Deficiency	Microphthalmia, Hemorrhagic ovarian cyst, Decreased testicular size, Splenic rupture, Right ventr...	ORPHA:335
Elliptocytosis 1	Elliptocytosis, Jaundice, Splenomegaly, Hemolytic anemia	OMIM:611804
Follicular Lymphoma	Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Abnormal peritoneum morphology	ORPHA:545
Thrombocytopenia, Anemia, And Myelofibrosis	Anisopoikilocytosis, Thrombocytopenia, Anemia, Splenomegaly	OMIM:617441
Hereditary Amyloidosis With Primary Renal Involvement	Renal interstitial amyloid deposits, Hepatomegaly, Abnormal lymph node morphology, Lymphadenopath...	ORPHA:85450
Mucopolysaccharidosis-Plus Syndrome	Enlarged kidney, Hepatomegaly, Macrovesicular hepatic steatosis, Anemia, Focal segmental glomerul...	OMIM:617303
Cholesteryl Ester Storage Disease	Cirrhosis, Jaundice, Hepatomegaly, Splenomegaly, Hepatic failure	ORPHA:75234
Spherocytosis, Type 4	Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:612653
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatocellular carcinoma, ...	OMIM:619463
Amyloidosis, Familial Visceral	Hepatomegaly, Hematuria, Cholestasis, Nephrotic syndrome, Splenomegaly, Proteinuria, Renal amyloi...	OMIM:105200
Lymphoproliferative Syndrome 3	Reduced natural killer cell count, Hepatosplenomegaly, Lymphadenopathy	OMIM:618261
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Abnormality of the lymphatic system, Portal hypertension, Bili...	ORPHA:1414
Lujan-Fryns Syndrome	Macroorchidism	ORPHA:776
Biemond Syndrome Type 2	Microphthalmia, Hypogonadotropic hypogonadism, Hypospadias, Hypogonadism	ORPHA:141333
Polyembryoma	Isosexual precocious puberty, Macroorchidism, Abdominal mass, Abnormal peritoneum morphology	ORPHA:180229
Gray Platelet Syndrome	Thrombocytopenia, Splenomegaly	ORPHA:721
Immunodeficiency 52	Lymphadenopathy, Abnormal natural killer cell count, T lymphocytopenia, Splenomegaly, Abnormal B ...	OMIM:617514
Fragile X Syndrome	Macroorchidism	ORPHA:908
Multicystic Dysplastic Kidney	Enlarged kidney, Unilateral renal agenesis, Ureterovesical junction obstruction, Vesicoureteral r...	ORPHA:1851
Cryohydrocytosis	Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:185020
Glycogen Storage Disease Ib	Enlarged kidney, Hepatomegaly, Pancreatitis, Decreased glomerular filtration rate, Hepatocellular...	OMIM:232220
Immunodeficiency 48	Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Splenomegaly, Abnormal ...	OMIM:269840
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Nephroblastoma, Enlarged kidney	OMIM:618272
Desmoplastic Small Round Cell Tumor	Hepatomegaly, Anemia, Lymphadenopathy, Neoplasm of the pancreas, Abnormal peritoneum morphology, ...	ORPHA:83469
Hemoglobin E Disease	Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, A...	ORPHA:2133
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Mediastinal lymphadenopathy, Lymphadenopathy, Decreased proportion of CD4-positive helper T cells...	OMIM:300853
Igg4-Related Kidney Disease	Enlarged kidney, Sclerosing cholangitis, Cholecystitis, Urinary bladder inflammation, Acute kidne...	ORPHA:449395
Fish-Eye Disease	Lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:79292
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Unilateral microphthalmos, Hypospadias, Macroorchidism	OMIM:618874
Dehydrated Hereditary Stomatocytosis 2	Anisopoikilocytosis, Jaundice, Hepatomegaly, Increased mean corpuscular hemoglobin concentration,...	OMIM:616689
Leydig Cell Hypoplasia	Testicular gonadoblastoma, Hypospadias, Abnormal vas deferens morphology, Breast aplasia, Hypopla...	ORPHA:755
Acrocephalopolydactylous Dysplasia	Enlarged kidney, Hepatomegaly, Cystic renal dysplasia, Ascites, Hepatic fibrosis, Pancreatic fibr...	OMIM:200995
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Male hypogonadism, Macroorchidism	OMIM:300055
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Jaundice, Cholelithiasis, Spontaneous hemolytic crises, Nonspherocytic hemolytic anemia, Impaired...	OMIM:613470
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia	ORPHA:231401
46,Xy Sex Reversal 11	Abnormal internal genitalia, Urogenital sinus anomaly, Aplasia of the uterus, Elevated circulatin...	OMIM:273250
Bile Acid Synthesis Defect, Congenital, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Acholic stools, Elevated circulating...	OMIM:613812
Immunodeficiency 64 With Lymphoproliferation	Autoimmune hemolytic anemia, Cervical lymphadenopathy, Mediastinal lymphadenopathy, Lymphadenopat...	OMIM:618534
Non-Functioning Pituitary Adenoma	Decreased response to growth hormone stimulation test, Male hypogonadism, Reduced circulating pro...	ORPHA:91349
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome	Macroorchidism, Elevated circulating growth hormone concentration	ORPHA:85327
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased B cell count, Hepatosplenomegaly, Lymphadenopathy, Increased proportion of memory T cells	OMIM:618982
Ornithine Transcarbamylase Deficiency	Splenomegaly, Hepatic failure	ORPHA:664
Spherocytosis, Type 2	Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia	OMIM:616649
Microphthalmia/Coloboma 6	Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Overhydrated Hereditary Stomatocytosis	Decreased mean corpuscular hemoglobin concentration, Intermittent jaundice, Reticulocytosis, Abno...	ORPHA:3203
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Splenomegal...	OMIM:619375
Microcephaly-Microcornea Syndrome, Seemanova Type	Microphthalmia, Hypogonadism	ORPHA:2528
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Abnormal lymph node morphology, Anemia, Leukocytosis, Hepatosplenomegaly, Splenomeg...	OMIM:612840
Trisomy 20P	Abnormality of the kidney, Hypospadias, Abnormality of the ureter, Hydronephrosis, Multiple renal...	ORPHA:261318
Isolated Follicle Stimulating Hormone Deficiency	Azoospermia, Oligozoospermia, Testicular atrophy, Female hypogonadism, Gonadotropin deficiency, D...	ORPHA:52901
X-Linked Sideroblastic Anemia	Anemia, Elevated circulating hepatic transaminase concentration, Splenomegaly	ORPHA:75563
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Anemia, Lymphadenopathy, Hemophagocytosis, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly	OMIM:613101
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Hypospadias, Aniridia, Abnormal vagina morphology, Nephropathy, Cryptorchidism, Abnormality of th...	OMIM:194072
Ghosal Hematodiaphyseal Dysplasia	Anemia, Splenomegaly	ORPHA:1802
Bresek Syndrome	Microphthalmia, Optic nerve hypoplasia, Vesicoureteral reflux, Hypoplasia of the bladder, Decreas...	ORPHA:85284
Autosomal Recessive Polycystic Kidney Disease	Enlarged kidney, Cholestasis, Ascites, Biliary hyperplasia, Splenomegaly, Oliguria, Abnormal intr...	ORPHA:731
Cholestasis, Progressive Familial Intrahepatic, 2	Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Hepatocellular carcinoma, Intermittent jaundic...	OMIM:601847
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Hypersplenism	OMIM:610539
Niemann-Pick Disease, Type B	Hepatomegaly, Anemia, Sea-blue histiocytosis, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly	OMIM:607616
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Cardiomegaly, Macroorchidism	ORPHA:324410
Renal And Mullerian Duct Hypoplasia	Aplasia of the uterus, Anteriorly displaced urethral meatus, Renal hypoplasia, Horseshoe kidney, ...	OMIM:266810
Meacham Syndrome	Blind vagina, Enlarged kidney, Accessory spleen, Bicornuate uterus, Male pseudohermaphroditism, S...	OMIM:608978
Hyperparathyroidism, Transient Neonatal	Enlarged kidney, Unilateral renal agenesis, Splenic cyst, Ovarian cyst, Hyperparathyroidism	OMIM:618188
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Incr...	OMIM:619924
Mayer-Rokitansky-Kuster-Hauser Syndrome	Abnormal female external genitalia morphology, Aplasia of the upper vagina, Hypoplasia of the ute...	OMIM:277000
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil...	ORPHA:766
Pfapa Syndrome	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:42642
Immunodeficiency 27A	Anemia, Thrombocytosis, Lymphadenopathy, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Enlarged...	OMIM:209950
Microcephaly 20, Primary, Autosomal Recessive	Microphthalmia, Optic nerve hypoplasia, Bilateral renal agenesis, Renal hypoplasia, Ureteral agen...	OMIM:617914
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Lymphadenopathy	OMIM:617772
Gracile Bone Dysplasia	Microphthalmia, Aniridia, Ascites, Asplenia, Hypoplastic spleen, Micropenis	OMIM:602361
Glycogen Storage Disease Ixb	Hepatomegaly, Splenomegaly, Increased hepatic glycogen content	OMIM:261750
Bile Acid Synthesis Defect, Congenital, 2	Jaundice, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Hepa...	OMIM:235555
Hepatoportal Sclerosis	Abnormal liver parenchyma morphology, Jaundice, Elevated circulating hepatic transaminase concent...	ORPHA:64743
Spastic Paraplegia-Precocious Puberty Syndrome	Precocious puberty in males, Hyperplasia of the Leydig cells	ORPHA:2826
Osteopetrosis, Autosomal Recessive 8	Hepatomegaly, Anemia, Unilateral microphthalmos, Thrombocytopenia, Splenomegaly	OMIM:615085
Microphthalmia/Coloboma 4	Microphthalmia	OMIM:251505
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Female external genitalia in individual with 46,XY karyotype, Abnormal female external genitalia ...	ORPHA:90790
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia, External genital hypoplasia, Hypogonadism, Cryptorchidism	ORPHA:363741
Bile Acid Synthesis Defect, Congenital, 1	Cirrhosis, Jaundice, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentr...	OMIM:607765
Beckwith-Wiedemann Syndrome	Enlarged kidney, Hepatomegaly, Cardiomegaly, Renal cortical cysts, Vesicoureteral reflux, Nephrol...	OMIM:130650
Tyrosinemia, Type I	Elevated urinary delta-aminolevulinic acid, Cirrhosis, Hepatomegaly, Anemia, Enlarged kidney, Glo...	OMIM:276700
Joubert Syndrome 37	Microphthalmia, Hepatomegaly, Decreased testicular size, Hydronephrosis, Cryptorchidism, Micropenis	OMIM:619185
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Recurrent urinary tract infections, S...	OMIM:618495
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Microphthalmia, Hydroureter, Hypoplasia of penis, Abnormality of the bladder, Abnormality of the ...	ORPHA:2547
Pyruvate Kinase Deficiency Of Red Cells	Jaundice, Hepatomegaly, Chronic hemolytic anemia, Cholelithiasis, Reduced red cell pyruvate kinas...	OMIM:266200
Cholesteryl Ester Storage Disease	Cirrhosis, Hepatomegaly, Anemia, Periportal fibrosis, Bone-marrow foam cells, Portal hypertension...	OMIM:278000
Laryngeal Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy, Adrenocorticotropic hormone excess	ORPHA:100083
Coproporphyria, Hereditary	Elevated urinary delta-aminolevulinic acid, Jaundice, Hepatomegaly, Increased urinary porphobilin...	OMIM:121300
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Hepatomegaly, Splenomegaly	ORPHA:2204
Nephroblastoma	Hematuria, Lymphadenopathy, Aniridia, Nephroblastoma, Neoplasm of the liver	ORPHA:654
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Lymphadenopathy, Decreased proportion of class-switched memory B cells, Lymphopenia, Decreased pr...	OMIM:619846
46,Xx Ovotesticular Difference Of Sex Development	Abnormal male internal genitalia morphology, Hypospadias, Hypoplasia of penis, Abnormal scrotal r...	ORPHA:2138
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Immunodeficiency, Common Variable, 2	Hepatomegaly, Lymphadenopathy, Abnormal T cell count, Splenomegaly, Follicular hyperplasia	OMIM:240500
Lymphatic Filariasis	Abnormality of the kidney, Lymphangiectasis, Hematuria, Lymphadenopathy, Urethral obstruction, Ab...	ORPHA:2035
Schnitzler Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Splenomegaly	ORPHA:37748
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Jaundice, Hepatomegaly, Cholestasis, Portal hypertension, Splenomegaly	ORPHA:59303
Immunodeficiency 54	Hepatomegaly, Lymphadenopathy, Adrenocorticotropic hormone excess, Splenomegaly, Reduced natural ...	OMIM:609981
Cold Agglutinin Disease	Hepatomegaly, Lymphadenopathy, Splenomegaly, Abnormal urinary color, Hemolytic anemia	ORPHA:56425
Glycogen Storage Disease Ixc	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Increased hepat...	OMIM:613027
Indolent Systemic Mastocytosis	Hepatomegaly, Increased proportion of CD25+ mast cells, Lymphadenopathy, Mastocytosis, Splenomega...	ORPHA:98848
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Enlarged kidney, Hepatomegaly, Macrovesicular hepatic steatosis, Ureteral duplication, Long-chain...	OMIM:608836
Cardiac-Urogenital Syndrome	Enlarged kidney, Penoscrotal hypospadias, Accessory spleen, Aplasia of the uterus, Bifid scrotum,...	OMIM:618280
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia	OMIM:251700
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Hematuria, Hypoparathyroidism, Unilateral renal dysplasia, Aplasia of the vagina, Aplasia of the ...	OMIM:146255
Gaucher Disease Type 2	Hepatomegaly, Splenomegaly	ORPHA:77260
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Lymphadenopathy, Neutropenia i...	OMIM:603909
Immunodeficiency 103, Susceptibility To Fungal Infections	Lymphadenopathy, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cells,...	OMIM:212050
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemi...	ORPHA:75564
Diaphanospondylodysostosis	Enlarged kidney, Abnormal liver lobulation, Nephroblastomatosis, Nephrogenic rest, Horseshoe kidn...	OMIM:608022
Thrombocytopenia With Beta-Thalassemia, X-Linked	Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni...	OMIM:314050
Cat-Eye Syndrome	Renal hypoplasia/aplasia, Microphthalmia, Hydronephrosis, Abnormal localization of kidney	ORPHA:195
Heme Oxygenase 1 Deficiency	Hepatomegaly, Hematuria, Lymphadenopathy, Asplenia, Nephritis, Coombs-positive hemolytic anemia, ...	OMIM:614034
Oculogastrointestinal Neurodevelopmental Syndrome	Vaginal fistula, Unilateral microphthalmos, Bilateral microphthalmos, Horseshoe kidney	OMIM:619318
Chronic Myeloid Leukemia	Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl...	ORPHA:521
Congenital Rubella Syndrome	Microphthalmia, Jaundice, Anemia, Hepatomegaly, Thrombocytopenia, Splenomegaly, Aplasia/Hypoplasi...	ORPHA:290
Classic Mycosis Fungoides	Lymphadenopathy, Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly	ORPHA:2584
Fryns Microphthalmia Syndrome	Microphthalmia, Anophthalmia, Unicornuate uterus	OMIM:600776
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope...	ORPHA:231154
Lymphoid Interstitial Pneumonia	Enlarged kidney, Hepatomegaly, Mediastinal lymphadenopathy	ORPHA:79128
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Microphthalmia, Decreased pineal volume, Focal segmental glomerulosclerosis, Nephrotic syndrome, ...	OMIM:301108
Nanophthalmos	Microphthalmia	ORPHA:35612
Aicardi-Goutieres Syndrome 4	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Pancytopenia, Hepatospleno...	OMIM:610333
Lipodystrophy, Congenital Generalized, Type 3	Hepatic steatosis, Hepatomegaly, Hepatosplenomegaly, Splenomegaly	OMIM:612526
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Splenomegaly, Pancytopenia	OMIM:614979
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Jaundice, Hepatomegaly, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Incr...	OMIM:194380
46,Xy Sex Reversal 3	Gonadal dysgenesis, Clitoral hypertrophy, Penoscrotal hypospadias, Exaggerated rugosity of the la...	OMIM:612965
Overhydrated Hereditary Stomatocytosis	Jaundice, Hepatomegaly, Increased mean corpuscular volume, Reticulocytosis, Prolonged neonatal ja...	OMIM:185000
Short Fifth Metacarpals-Insulin Resistance Syndrome	Spherocytosis, Splenomegaly	ORPHA:66518
Immunodeficiency 109 With Lymphoproliferation	Absent circulating B cells, Generalized lymphadenopathy, Splenomegaly, Pancytopenia	OMIM:620282
Budd-Chiari Syndrome	Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Ascit...	ORPHA:131
Diethylstilbestrol Syndrome	Hypoplasia of the uterus, Hypospadias, Abnormal reproductive system morphology, Abnormal testis m...	ORPHA:1916
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Hemochromatosis, Type 2A	Cirrhosis, Hepatomegaly, Azoospermia, Splenomegaly, Hypogonadotropic hypogonadism	OMIM:602390
Myelofibrosis	Hepatomegaly, Hemophagocytosis, Myeloproliferative disorder, Splenomegaly, Extramedullary hematop...	OMIM:254450
Lymphoproliferative Syndrome 2	Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Ascites, Hepatosp...	OMIM:615122
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Acute myelomonocytic leukemia, Hypopl...	ORPHA:2585
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Caspase 8 Deficiency	Splenomegaly, Decreased CD4:CD8 ratio, Lymphadenopathy	OMIM:607271
Dihydropyrimidine Dehydrogenase Deficiency	Microphthalmia, Uraciluria, Elevated urinary dihydrothymine level	OMIM:274270
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Anemia, Hypochromia, Poikilocytosis, Elevated hepatic iron concentration, Siderobla...	OMIM:615234
Sea-Blue Histiocytosis	Hepatomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly	ORPHA:158029
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Endocrine-Cerebroosteodysplasia	Enlarged kidney, Hypospadias, Microphallus, Hyperechogenic kidneys, Small scrotum, Ambiguous geni...	OMIM:612651
Immunodeficiency, Common Variable, 1	Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, B lymphocyt...	OMIM:607594
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Microphthalmia, Cryptorchidism, Hypogonadism	OMIM:601794
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Lymphadenopathy, B lymphocytopenia, Splenomegaly, Intermittent thrombocytopenia, Abnormal CD4:CD8...	OMIM:150550
Fanconi Anemia, Complementation Group G	Microphthalmia, Anemia, Thrombocytopenia, Leukemia, Neutropenia	OMIM:614082
Pierpont Syndrome	Microphthalmia, Cryptorchidism, Micropenis	OMIM:602342
Immunodeficiency 7	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Hypereosinophilia, Neut...	OMIM:615387
Familial Cold Autoinflammatory Syndrome 2	Lymphadenopathy, Leukocytosis, Splenomegaly	OMIM:611762
Rosaï-Dorfman Disease	Anemia, Lymphadenopathy	ORPHA:158014
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Abnormal fallopian tube morphology, Abnormally large globe, Abnormal renal morpholo...	ORPHA:1655
Xk Aprosencephaly Syndrome	Abnormal external genitalia, Microphthalmia	ORPHA:3469
Lymphoproliferative Syndrome, X-Linked, 2	Aplastic anemia, Hepatomegaly, Hemophagocytosis, Pancytopenia, Splenomegaly, Hepatitis	OMIM:300635
Oculocerebrocutaneous Syndrome	Microphthalmia, Cryptorchidism, Anophthalmia	OMIM:164180
Activated Pi3K-Delta Syndrome	Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, B lymphocytopenia, Splenomegaly	ORPHA:397596
Cholestasis, Progressive Familial Intrahepatic, 1	Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis with episodic jaundic...	OMIM:211600
Glycogen Storage Disease Ixa1	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly	OMIM:306000
Aromatase Deficiency	Macroorchidism, postpubertal, Enlarged polycystic ovaries, Hypergonadotropic hypogonadism, Female...	ORPHA:91
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Hepatomegaly, Anemia, Splenomegaly	OMIM:620296
Cerebrooculofacioskeletal Syndrome 3	Microphthalmia	OMIM:616570
Harderoporphyria	Hepatomegaly, Reticulocytosis, Prolonged neonatal jaundice, Splenomegaly, Hemolytic anemia	OMIM:618892
Warburg Micro Syndrome 1	Microphthalmia, External genital hypoplasia, Cryptorchidism	OMIM:600118
Microphthalmia/Coloboma 5	Bilateral microphthalmos, Microphthalmia, Anophthalmia	OMIM:611638
Cofs Syndrome	Microphthalmia, Hypogonadism	ORPHA:1466
Griscelli Syndrome Type 2	Jaundice, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Splenomegaly, Neutropenia	ORPHA:79477
Microphthalmia, Syndromic 8	Microphthalmia, Cryptorchidism	OMIM:601349
Fanconi Anemia, Complementation Group J	Bone marrow hypocellularity, Microphthalmia	OMIM:609054
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Neutropenia in presence of ant...	OMIM:601859
Classic Hodgkin Lymphoma	Bone marrow hypocellularity, Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:391
Beta-Thalassemia	Hepatomegaly, Anemia, Cholelithiasis, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly, Hepati...	ORPHA:848
Pierpont Syndrome	Microphthalmia, Cryptorchidism	ORPHA:487825
Immunodeficiency With Hyper-Igm, Type 3	Absence of lymph node germinal center, Neutropenia	OMIM:606843
Immunodeficiency 91 And Hyperinflammation	Hepatomegaly, Hemolytic-uremic syndrome, Hemophagocytosis, Lymphadenopathy, Nephrotic syndrome, N...	OMIM:619644
Infantile Liver Failure Syndrome 3	Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Cholestasis, Hep...	OMIM:618641
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Microphthalmia, Hematuria	OMIM:120433
Immunodeficiency 32A	Lymphadenitis, Lymphadenopathy	OMIM:614893
Microphthalmia, Syndromic 9	Renal malrotation, Multilobulated spleen, Bilateral microphthalmos, Anophthalmia, Pelvic kidney, ...	OMIM:601186
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
Immunodeficiency With Hyper-Igm, Type 2	Lymphadenopathy	OMIM:605258
Glycogen Storage Disease Ia	Enlarged kidney, Hepatomegaly, Pancreatitis, Decreased glomerular filtration rate, Hepatocellular...	OMIM:232200
Nanophthalmos 4	Microphthalmia	OMIM:615972
Osteopetrosis, Autosomal Dominant 3	Hepatomegaly, Anemia, Splenomegaly	OMIM:618107
Microphthalmia/Coloboma 10	Microphthalmia, Anophthalmia	OMIM:616428
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:163596
Leishmaniasis	Hepatomegaly, Anemia, Lymphadenopathy, Pancytopenia, Abnormal macrophage morphology, Leukopenia, ...	ORPHA:507
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Jaundice, Hepatomegaly, Anemia of inadequate production, Exocrine pancreatic insufficiency, Splen...	OMIM:612714
Pleural Mesothelioma	Hepatomegaly, Lymphadenopathy	ORPHA:50251
Primary Myelofibrosis	Hepatomegaly, Anemia, Thrombocytosis, Lymphadenopathy, Pancytopenia, Leukocytosis, Portal hyperte...	ORPHA:824
Polycythemia Vera	Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro...	OMIM:263300
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Abnormally low T cell receptor excision circle level, B lymphocytopenia, Cervical lymphadenopathy	OMIM:618987
Partial Androgen Insensitivity Syndrome	Blind vagina, Clitoral hypertrophy, Hypospadias, Azoospermia, Aplasia of the uterus, Urogenital s...	ORPHA:90797
Fanconi Anemia, Complementation Group F	Decreased response to growth hormone stimulation test, Microphthalmia, Anemia, Pelvic kidney, Ves...	OMIM:603467
Paternal Uniparental Disomy Of Chromosome 1	Enlarged kidney, Episodic hemolytic anemia, Proteinuria, Macroscopic hematuria, Membranoprolifera...	ORPHA:251004
Trisomy 13	Microphthalmia, Anophthalmia, Abnormality of the ureter, Hydronephrosis, Displacement of the uret...	ORPHA:3378
Lymphoproliferative Syndrome, X-Linked, 1	Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Lymphocytosis, Fu...	OMIM:308240
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Absence of lymph node germinal center, Autoimmune thrombocytopenia	OMIM:608184
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hepatocellular adenoma, Hepatomegaly, Pancreatitis, Anemia, Enlarged kidney, Increased hepatic gl...	ORPHA:79259
Combined Immunodeficiency Due To Zap70 Deficiency	Autoimmune hemolytic anemia, Abnormal lymph node morphology, Lymphadenopathy, Decreased proportio...	ORPHA:911
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Anemia, Acute myeloid leukemia, Hemophagocytosis, Pancytopenia, Hepatocellular carcinoma, Prostat...	ORPHA:158057
Glut1 Deficiency Syndrome 2	Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:612126
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Enlarged kidney, Anemia, Nephrotic syndrome, Bone marrow hypocellularity, Thrombocytopenia, Leuko...	ORPHA:505248
Rhabdoid Tumor	Renal neoplasm, Hematuria, Anemia, Lymphadenopathy, Thrombocytopenia, Neoplasm of the liver	ORPHA:69077
Immunodeficiency 10	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Recurrent urinary tract infections, A...	OMIM:612783
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Hypoplasia of the ovary, Decreased testicular size, Micropenis, Cryptorchidism, Hypoplasia of the...	OMIM:614841
Beckwith-Wiedemann Syndrome	Enlarged kidney, Hepatomegaly, Ureteral duplication, Abnormal pancreas morphology, Congenital meg...	ORPHA:116
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Lymphadenopathy, Recurrent tonsillitis, Acute pancreatitis, Lymphadenitis, Nephrotic syndrome, He...	OMIM:618935
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Gonadal dysgenesis, Abnormal female external genitalia morphology, Male hypogonadism, Abnormal va...	ORPHA:168563
Deafness-Lymphedema-Leukemia Syndrome	Acute leukemia, Hepatomegaly, Lymphadenopathy, Abnormal neutrophil count, Myeloproliferative diso...	ORPHA:3226
Alpha-Thalassemia	Anisopoikilocytosis, Hemoglobin Barts, Jaundice, Anemia, Cholelithiasis, Reticulocytosis, Hepatos...	ORPHA:846
Wolman Disease	Hepatomegaly, Anemia, Bone-marrow foam cells, Ascites, Splenomegaly, Hepatic failure	ORPHA:75233
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Macroorchidism	OMIM:309520
Complete Androgen Insensitivity Syndrome	Blind vagina, Female external genitalia in individual with 46,XY karyotype, Testicular neoplasm, ...	ORPHA:99429
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Enlarged kidney, Polycystic kidney dysplasia, Renal dysplasia, Ambiguous genitalia, Micropenis	OMIM:613091
Lig4 Syndrome	Acute leukemia, Hepatomegaly, Lymphadenopathy, Pancytopenia, Hypoplasia of penis, Leukocytosis, C...	ORPHA:99812
Cystic Echinococcosis	Cholestatic liver disease, Jaundice, Hepatomegaly, Splenic cyst, Abnormal peritoneum morphology, ...	ORPHA:400
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Enlarged kidney, Hydronephrosis, Urethral atresia	OMIM:314390
Lumbar Syndrome	Hypospadias, Vesicoureteral reflux, Bifid scrotum, Renal agenesis, Bifid uterus, Renal duplicatio...	ORPHA:83628
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Increased mean corpuscular volume, Portal hypertension, Thrombocytopenia, Splenomegaly, Nodular r...	OMIM:620367
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Ectopic kidney, Unilateral renal agenesis, Azoospermia, Bicornuate uterus, Renal agenesis, Hypopl...	OMIM:601076
Fanconi Anemia, Complementation Group A	Microphthalmia, Anemia, Ectopic kidney, Duplicated collecting system, Pancytopenia, Abnormal rena...	OMIM:227650
Isolated Thyroid-Stimulating Hormone Deficiency	Pituitary hypothyroidism, Thyroid hypoplasia, Prolonged neonatal jaundice, Goiter, Increased circ...	ORPHA:90674
Hurler-Scheie Syndrome	Abnormality of the tonsils, Hepatomegaly, Splenomegaly	ORPHA:93476
Seckel Syndrome 2	Microphthalmia, Ectopic kidney, Hypospadias	OMIM:606744
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	B lymphocytopenia, T lymphocytopenia, Absence of lymph node germinal center, Lymphopenia, Absent ...	ORPHA:277
Neurooculocardiogenitourinary Syndrome	Cardiomegaly, Microphthalmia, Bilateral cryptorchidism	OMIM:618652
Testicular Agenesis	Hypoplasia of the uterus, Abnormal vas deferens morphology, Urogenital sinus anomaly, Urethrovagi...	ORPHA:325124
Acquired Hypertrichosis Lanuginosa	Ovarian neoplasm, Lymphadenopathy	ORPHA:2221
Mosaic Trisomy 9	Hypoplastic female external genitalia, Microphthalmia, Abnormal liver lobulation, Abnormal fallop...	ORPHA:99776
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Hypoplasia of the uterus, Azoospermia, Decreased testicular size, Cryptorchidism, Micropenis, Hyp...	OMIM:614837
Tafro Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Ascites, Thrombocytopenia, Splenomegaly, Hep...	ORPHA:457077
Fanconi Anemia, Complementation Group E	Microphthalmia, Anemia, Ectopic kidney, Duplicated collecting system, Pancytopenia, Reticulocytop...	OMIM:600901
Joubert Syndrome 33	Splenomegaly	OMIM:617767
Gaucher Disease, Type Iii	Hepatomegaly, Thrombocytopenia, Splenomegaly, Pancytopenia	OMIM:231000
Congenital Disorder Of Glycosylation, Type Iij	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly, H...	OMIM:613489
Lymphoproliferative Syndrome 1	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopeni...	OMIM:613011
Pseudomyxoma Peritonei	Ascites, Lymphadenopathy, Abnormal peritoneum morphology	ORPHA:26790
Fanconi Anemia, Complementation Group I	Decreased response to growth hormone stimulation test, Microphthalmia, Abnormal renal morphology,...	OMIM:609053
Fraser Syndrome 2	Microphthalmia, Unilateral renal agenesis, Bilateral renal agenesis, Aplasia of the bladder, Hypo...	OMIM:617666
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Mediastinal lymphadenopathy, Hemophagocytosis, Decreased proportion ...	OMIM:619802
Caroli Disease	Cirrhosis, Intrahepatic cholestasis, Jaundice, Cholangitis, Cholelithiasis, Hepatomegaly, Liver a...	ORPHA:53035
Roifman Syndrome	Eosinophilia, Hypogonadotropic hypogonadism, Hepatosplenomegaly, Lymphadenopathy	ORPHA:353298
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Elevated urinary inosine level, Neutropenia in presence of anti-neut...	OMIM:613179
Hemochromatosis, Type 1	Cirrhosis, Hepatomegaly, Azoospermia, Hepatocellular carcinoma, Testicular atrophy, Ascites, Sple...	OMIM:235200
Fanconi Anemia, Complementation Group C	Microphthalmia, Anemia, Ectopic kidney, Duplicated collecting system, Pancytopenia, Reticulocytop...	OMIM:227645
Alg9-Cdg	Enlarged kidney, Hepatomegaly, Periportal fibrosis, Hypoplasia of the ovary, Hypoplastic nipples,...	ORPHA:79328
Thymic Neuroendocrine Tumor	Mediastinal lymphadenopathy, Pancreatic islet cell adenoma, Neoplasm of the thymus, Chronic nonin...	ORPHA:97289
Developmental And Epileptic Encephalopathy 1	Microphthalmia, Micropenis	OMIM:308350
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Beta-Thalassemia Intermedia	Decreased liver function, Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Hepatocellular carci...	ORPHA:231222
Microphthalmia/Coloboma 7	Microphthalmia	OMIM:614497
Griscelli Syndrome	Jaundice, Hepatomegaly, Lymphadenopathy, Ascites, Bone marrow hypocellularity, Leukopenia, Spleno...	ORPHA:381
Microphthalmia, Syndromic 5	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Cryptorchidism, Micropenis, Ectopic posteri...	OMIM:610125
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Jaundice, Hepatomegaly, Decreased proportion of CD3-positive T cells, Decreased proportion of nai...	ORPHA:276
Foveal Hypoplasia 2	Microphthalmia, Hypoplasia of the fovea	OMIM:609218
Adams-Oliver Syndrome 4	Microphthalmia	OMIM:615297
Cinca Syndrome	Anemia, Lymphadenopathy, Leukocytosis, Hepatosplenomegaly, Eosinophilia	OMIM:607115
Mullerian Aplasia And Hyperandrogenism	Unilateral renal agenesis, Aplasia of the vagina, Abnormal external genitalia, Aplasia of the ute...	OMIM:158330
Erythrocytosis, Familial, 1	Increased circulating hemoglobin concentration, Increased red blood cell mass, Splenomegaly, Incr...	OMIM:133100
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Renal hypoplasia, Microphthalmia, Hepatomegaly, Ketonuria	OMIM:619053
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Leukocytosis, Nephrotic sy...	ORPHA:39041
Niemann-Pick Disease, Type A	Sea-blue histiocytosis, Hepatomegaly, Lymphadenopathy, Bone-marrow foam cells, Ascites, Prolonged...	OMIM:257200
Microphthalmia/Coloboma 3	Microphthalmia	OMIM:610092
Tularemia	Cervical lymphadenopathy, Anemia, Lymphadenopathy, Mediastinal lymphadenopathy, Leukocytosis, Thr...	ORPHA:3392
Triokinase And Fmn Cyclase Deficiency Syndrome	Microphthalmia, Hepatomegaly, Pancreatitis, Hepatic steatosis, Microcytic anemia	OMIM:618805
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, B lymphocytopenia, ...	OMIM:301078
Congenital Pulmonary Lymphangiectasia	Ascites, Hepatomegaly, Splenomegaly	ORPHA:2414
Sickle Cell Disease	Jaundice, Hepatomegaly, Cholelithiasis, Splenic infarction, Leukocytosis, Target cells, Splenomeg...	OMIM:603903
Amed Syndrome, Digenic	Anemia, Acute myeloid leukemia, Bone marrow hypocellularity, Thrombocytopenia, Leukopenia, Hypopl...	OMIM:619151
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Microphthalmia, Unilateral renal agenesis, Renal hypoplasia, Hydronephrosis, Cryptorchidism	OMIM:618494
Aggressive Systemic Mastocytosis	Anemia, Lymphadenopathy, Increased proportion of CD25+ mast cells, Pancytopenia, Leukocytosis, Po...	ORPHA:98850
Osteopetrosis, Autosomal Recessive 4	Hepatomegaly, Anemia, Reticulocytosis, Thrombocytopenia, Splenomegaly	OMIM:611490
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Jaundice, Hepatomegaly, Sclerosing cholangitis, Intrahepatic biliary atresia, Cholestasis, Portal...	OMIM:607626
Parenteral Nutrition-Associated Cholestasis	Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Chole...	ORPHA:567983
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Microphthalmia	OMIM:616171
Wilson Disease	Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Anemi...	ORPHA:905
Joubert Syndrome 22	Renal hypoplasia, Microphthalmia	OMIM:615665
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoplasia of the thymus, Severe B lymp...	OMIM:603554
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morpholog...	ORPHA:100026
Anemia, Congenital Dyserythropoietic, Type Ia	Hepatomegaly, Anemia of inadequate production, Macrocytic dyserythropoietic anemia, Bite cells, R...	OMIM:224120
Castleman Disease	Jaundice, Mediastinal lymphadenopathy, Anemia, Lymphadenopathy, Hematuria, Abdominal mass, Ureter...	ORPHA:160
2Q24 Microdeletion Syndrome	Microphthalmia	ORPHA:1617
Microphthalmia, Isolated 6	Microphthalmia	OMIM:613517
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Jaundice, Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Prol...	OMIM:300908
Renal Cysts And Diabetes Syndrome	Multiple glomerular cysts, Abnormal renal morphology, Biliary tract abnormality, Decreased number...	OMIM:137920
Boutonneuse Fever	Lymphadenopathy, Thrombocytopenia, Leukopenia, Renal insufficiency, Cervical lymphadenopathy	ORPHA:83313
Fetal Cytomegalovirus Syndrome	Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Anemia, Thromboc...	ORPHA:294
Proteus Syndrome	Enlarged kidney, Ovarian neoplasm, Long penis, Testicular neoplasm, Neoplasm of the thymus, Renal...	ORPHA:744
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia, Hypogonadotropic hypogonadism	ORPHA:1135
Meckel Syndrome	Microphthalmia, Ureteral duplication, Multicystic kidney dysplasia, Accessory spleen, Anophthalmi...	ORPHA:564
Immunodeficiency 32B	Hepatomegaly, Anemia, Eosinophilia, Neutrophilia, Thrombocytopenia, Splenomegaly, Monocytopenia, ...	OMIM:226990
Cryoglobulinemic Vasculitis	Glomerulopathy, Hepatomegaly, Mediastinal lymphadenopathy, Hematuria, Viral hepatitis, Splenomega...	ORPHA:91138
Xeroderma Pigmentosum, Complementation Group G	Microphthalmia	OMIM:278780
Adams-Oliver Syndrome 6	Hepatic fibrosis, Splenomegaly, Portal hypertension	OMIM:616589
Cerebrooculofacioskeletal Syndrome 2	Small scrotum, Microphthalmia, Micropenis	OMIM:610756
Fanconi Anemia, Complementation Group R	Bone marrow hypocellularity, Microphthalmia, Pelvic kidney, Anemia	OMIM:617244
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Ambiguous genitalia, Microphthalmia	ORPHA:93267
Immunodeficiency 27B	Generalized lymphadenopathy	OMIM:615978
Meckel Syndrome, Type 5	Microphthalmia, Renal cyst, Bile duct proliferation	OMIM:611561
Roifman Syndrome	Eosinophilia, Hepatomegaly, Splenomegaly, Lymphadenopathy	OMIM:616651
Leprechaunism	Enlarged kidney, Hepatomegaly, Clitoral hypertrophy, Long penis, Hypercalciuria, Enlarged ovaries...	ORPHA:508
Systemic-Onset Juvenile Idiopathic Arthritis	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:85414
49,Xxxyy Syndrome	External genital hypoplasia, Abnormality of the testis size, Decreased testicular size, Ambiguous...	ORPHA:261534
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Nephroblastoma, Microphthalmia, Leukemia	OMIM:602501
Sézary Syndrome	Lymphadenopathy, Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly	ORPHA:3162
Warburg Micro Syndrome 4	Microphthalmia, Decreased testicular size, Small scrotum, Cryptorchidism, Micropenis	OMIM:615663
Mucolipidosis Ii Alpha/Beta	Enlarged kidney, Hepatomegaly, Mucopolysacchariduria, Splenomegaly, Cardiomegaly	OMIM:252500
Mayer-Rokitansky-Küster-Hauser Syndrome	Abnormality of the kidney, Unilateral renal agenesis, Ectopic kidney, Endometriosis, Aplasia of t...	ORPHA:3109
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Microphthalmia, Hypospadias, Anophthalmia, Hypoplasia of penis, Cryptorchidism	ORPHA:77298
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Microphthalmia, Hypogonadotropic hypogonadism	ORPHA:48431
Carney Complex	Ductal carcinoma in situ, Neoplasm of the pancreas, Testicular neoplasm, Ovarian dermoid cyst, He...	ORPHA:1359
Fanconi Anemia, Complementation Group D2	Annular pancreas, Microphthalmia, Anemia, Ectopic kidney, Duplicated collecting system, Pancytope...	OMIM:227646
Immune Dysregulation, Autoimmunity, And Autoinflammation	Anemia, Cervical lymphadenopathy, Inguinal lymphadenopathy	OMIM:620514
Proteasome-Associated Autoinflammatory Syndrome 4	Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly, Lymphadenopathy	OMIM:619183
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Leukocytosis, Splenomegaly	OMIM:618042
Anemia, Congenital Dyserythropoietic, Type Iv	Hepatomegaly, Anemia, Reduced hematocrit, Hypospadias, Anemia of inadequate production, Persisten...	OMIM:613673
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hepatomegaly, Lymphadenopathy, Hypoplasia of the iris, Thrombocytopenia, Splenomegaly, Hemolytic ...	ORPHA:169090
Heterotaxy, Visceral, 1, X-Linked	Enlarged kidney, Hepatomegaly, Biliary atresia, Polysplenia, Asplenia, Renal agenesis, Cardiomega...	OMIM:306955
Transaldolase Deficiency	Decreased liver function, Cirrhosis, Hepatomegaly, Anemia, Pancytopenia, Hepatosplenomegaly, Sple...	OMIM:606003
Microgastria-Limb Reduction Defect Syndrome	Microphthalmia, Hepatomegaly, Renal hypoplasia/aplasia, Rectovaginal fistula, Anophthalmia, Perin...	ORPHA:2538
Micro Syndrome	Microphthalmia, Hypoplasia of penis, Hypoplastic labia minora, Clitoral hypoplasia, Hydronephrosi...	ORPHA:2510
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Microphthalmia, Hematuria	ORPHA:1473
Idiopathic Uveal Effusion Syndrome	Microphthalmia	ORPHA:209956
Hypocomplementemic Urticarial Vasculitis	Glomerulopathy, Hepatomegaly, Hematuria, Lymphadenopathy, Ascites, Splenomegaly, Proteinuria, Ren...	ORPHA:36412
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypoparathyroidism, Unilateral renal agenesis, Polycystic kidney dysplasia, Vesicoureteral reflux...	ORPHA:2237
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Pancreatitis, Splenomegaly	OMIM:207750
Scrub Typhus	Lymphadenopathy, Renal insufficiency, Splenomegaly	ORPHA:83317
Dehydrated Hereditary Stomatocytosis	Cholelithiasis, Macrocytic anemia, Increased mean corpuscular hemoglobin concentration, Increased...	ORPHA:3202
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Decreased proportion of CD8-positive T cells, Lymphadenopathy, Decreased proportion of CD3-positi...	ORPHA:169154
Hydrolethalus	Microphthalmia, Cryptorchidism, Abnormal fallopian tube morphology, Anophthalmia	ORPHA:2189
Refsum Disease	Microphthalmia, Renal insufficiency, Splenomegaly	ORPHA:773
Mycosis Fungoides	Lymphadenopathy	OMIM:254400
Macrophage Activation Syndrome	Decreased liver function, Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell co...	ORPHA:158061
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune...	OMIM:616100
Medullary Thyroid Carcinoma	Abnormal liver parenchyma morphology, Lymphadenopathy, Pheochromocytoma, Primary hyperparathyroid...	ORPHA:1332
Legionnaires Disease	Jaundice, Pancreatitis, Lymphadenopathy, Hematuria, Renal insufficiency, Bone marrow hypocellular...	ORPHA:549
Facial Clefting, Oblique, 1	Microphthalmia	OMIM:600251
Premature Ovarian Failure 7	Gonadal dysgenesis, Clitoral hypertrophy, Elevated circulating follicle stimulating hormone level...	OMIM:612964
Familial Pancreatic Carcinoma	Jaundice, Lymphadenopathy, Peritoneal abscess, Hepatosplenomegaly, Exocrine pancreatic insufficie...	ORPHA:1333
Macrocephaly/Autism Syndrome	Hepatomegaly, Splenomegaly, Lymphopenia, Penile freckling, Hydrocele testis	OMIM:605309
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Blind vagina, Ambiguous genitalia, male, Female external genitalia in individual with 46,XY karyo...	ORPHA:90793
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Microphthalmia, Multiple bladder diverticula, Proteinuria, Small scrotum, Cryptorchidism	ORPHA:2728
Neonatal Lupus Erythematosus	Aplastic anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Neutropen...	ORPHA:398124
Ogden Syndrome	Enlarged kidney, Jaundice, Macrovesicular hepatic steatosis, Iron deficiency anemia, Microvesicul...	OMIM:300855
Isolated Biliary Atresia	Decreased liver function, Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentr...	ORPHA:30391
Klatskin Tumor	Jaundice, Hepatomegaly, Lymphadenopathy, Cholangiocarcinoma, Extrahepatic cholestasis	ORPHA:99978
Aspartylglucosaminuria	Hepatomegaly, Splenomegaly, Aspartylglucosaminuria, Macroorchidism	ORPHA:93
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Anemia, Lymphadenopathy, Decreased FOXP3-expressing T cell count, Thrombocytopenia, Coombs-positi...	OMIM:304790
Moebius Syndrome	Decreased testicular size, Microphthalmia, Micropenis, Hypogonadotropic hypogonadism	OMIM:157900
Multiple Benign Circumferential Skin Creases On Limbs	Microphthalmia, Hypospadias, Abnormal scrotum morphology, Small scrotum, Cryptorchidism	ORPHA:2505
Thyroid Lymphoma	Goiter, Lymphadenopathy	ORPHA:97285
Papillorenal Syndrome	Microphthalmia, Hematuria, Horseshoe kidney, Vesicoureteral reflux, Mild proteinuria, Nephrolithi...	OMIM:120330
Cataract 9, Multiple Types	Microphthalmia	OMIM:604219
Meacham Syndrome	Hydrometrocolpos, Abnormal fallopian tube morphology, Abnormal vagina morphology, Hypoplasia of p...	ORPHA:3097
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia	OMIM:614830
Tetraamelia Syndrome 1	Microphthalmia, Absent external genitalia, Hypoplasia of the fallopian tube, Asplenia, Renal agen...	OMIM:273395
Congenital Varicella Syndrome	Microphthalmia	ORPHA:291
Tetraamelia-Multiple Malformations Syndrome	Microphthalmia, Septo-optic dysplasia, Vaginal atresia, Cryptorchidism, Multicystic kidney dysplasia	ORPHA:3301
Papa Syndrome	Proteinuria, Lymphadenopathy	ORPHA:69126
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Microcytic anemia, Hepatosplenomegaly, Lymphadenopathy	OMIM:619750
Diffuse Cutaneous Mastocytosis	Hepatomegaly, Lymphadenopathy, Lymphocytosis, Myeloproliferative disorder, Abnormality of the spl...	ORPHA:79456
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Periportal fibro...	OMIM:251880
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Precocious puberty, Macroorchidism, Unilateral renal hypoplasia	OMIM:619950
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia	OMIM:615771
Fanconi Anemia, Complementation Group S	Ovarian carcinoma, Ovarian neoplasm, Microphthalmia, Anemia	OMIM:617883
Microphthalmia, Isolated 5	Microphthalmia	OMIM:611040
Rere-Related Neurodevelopmental Syndrome	Microphthalmia, Vesicoureteral reflux, Hypospadias, Cryptorchidism	ORPHA:494344
Coach Syndrome 1	Cirrhosis, Hepatomegaly, Nephronophthisis, Unilateral renal agenesis, Abnormal abdomen morphology...	OMIM:216360
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Renal salt wasting, Ambiguous genitalia, male, Clitoral hypertrophy, Female external genitalia in...	ORPHA:168558
Cinca Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Abnormal granulocyte morphology, Splenomegal...	ORPHA:1451
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Small scrotum, Microphthalmia, Cryptorchidism, Hypogonadism	ORPHA:228390
Felty Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Recurrent urinary tract infections, Abnormal lymphocyte mo...	ORPHA:47612
Autoimmune Hepatitis	Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Sclerosing cholangi...	ORPHA:2137
Warburg Micro Syndrome 3	Microphthalmia, Hypoplastic labia minora, Decreased testicular size, Small scrotum, Micropenis	OMIM:614222
Oeis Complex	Epispadias, Ambiguous genitalia, male, Hydroureter, Rectovaginal fistula, Vesicovaginal fistula, ...	OMIM:258040
Microphthalmia, Syndromic 13	Microphthalmia	OMIM:300915
Trichothiodystrophy 3, Photosensitive	Microphthalmia, Bilateral cryptorchidism, Abdominal adhesions, Lymphopenia, Neutropenia	OMIM:616395
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Renal salt wasting, Ambiguous genitalia, male, Clitoral hypertrophy, Female external genitalia in...	ORPHA:289548
Exstrophy-Epispadias Complex	Penoscrotal transposition, Epispadias, Abnormality of the kidney, Urinary incontinence, Bifid pen...	ORPHA:322
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Pancytopenia, B lymphocytopenia, Lymphadenitis, T lymphocytopenia, Leukopenia, Hepatosplenomegaly...	OMIM:618986
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Microphthalmia	OMIM:610023
Gaucher Disease Type 1	Cirrhosis, Hepatomegaly, Anemia, Cholelithiasis, Pancytopenia, Biliary tract obstruction, Splenic...	ORPHA:77259
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Pancytopenia, Anemia, Splenomegaly, Hemophagocytosis	OMIM:618398
Marden-Walker Syndrome	Microphthalmia, Hypospadias, Renal hypoplasia, Cryptorchidism, Micropenis	OMIM:248700
Craniotelencephalic Dysplasia	Microphthalmia, Septo-optic dysplasia	ORPHA:1528
Cerebrooculofacioskeletal Syndrome 1	Microphthalmia, Cryptorchidism	OMIM:214150
Drug-Induced Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Splenomegaly	ORPHA:90037
Warburg Micro Syndrome 2	Microphthalmia, Small scrotum, Cryptorchidism, Micropenis, Hypoplastic labia majora	OMIM:614225
Baraitser-Winter Syndrome 1	Microphthalmia, Cryptorchidism, Micropenis	OMIM:243310
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia	OMIM:267760
Chromosome 17Q12 Deletion Syndrome	Unilateral renal agenesis, Aplasia of the vagina, Recurrent urinary tract infections, Aplasia of ...	OMIM:614527
Anaplastic Thyroid Carcinoma	Goiter, Nodular goiter, Lymphadenopathy	ORPHA:142
Agammaglobulinemia, X-Linked	Prostatitis, Anemia, B lymphocytopenia, Recurrent urinary tract infections, Hepatocellular carcin...	OMIM:300755
Oculoskeletodental Syndrome	Hepatomegaly, Hypercalciuria, Mucopolysacchariduria, Renal agenesis, Splenomegaly, Cryptorchidism	OMIM:618440
Encephalocraniocutaneous Lipomatosis	Microphthalmia, Pelvic kidney, Hypoplasia of the iris, Hydronephrosis, Cryptorchidism	OMIM:613001
Fanconi Anemia, Complementation Group L	Microphthalmia, Anemia, Unilateral renal agenesis, Aplasia of the uterus, Bone marrow hypocellula...	OMIM:614083
Ovarian Dysgenesis 6	Hypoplasia of the uterus, Hypergonadotropic hypogonadism	OMIM:618078
Meckel Syndrome, Type 2	Microphthalmia, Renal cyst, Bile duct proliferation	OMIM:603194
Familial Hemophagocytic Lymphohistiocytosis	Cholestatic liver disease, Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Lymphadenopathy, Thr...	ORPHA:540
American Trypanosomiasis	Lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:3386
Adult-Onset Still Disease	Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Bone marrow hypocellularity, Neutrophilia, S...	ORPHA:829
Pediatric Systemic Lupus Erythematosus	Hematuria, Lymphadenopathy, Abnormality of the urinary system, Lymphopenia, Ascites, Nephrotic sy...	ORPHA:93552
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Jaundice, Hepatomegaly, Anemia, Abnormal natural killer cell count, Pancytopenia, Ascites, Portal...	ORPHA:79124
46,Xy Sex Reversal 4	Gonadal dysgenesis, Hypoplastic labia majora, Hypergonadotropic hypogonadism, Ureteropelvic junct...	OMIM:154230
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Pancreatic lymphangiectasis, Ascites, Hydronephrosis, Splenomegaly, Pulmonary lymph...	OMIM:235255
Immunodeficiency With Hyper-Igm, Type 1	Cirrhosis, Hepatomegaly, Sclerosing cholangitis, Chronic hepatitis, Enlarged tonsils, Thrombocyto...	OMIM:308230
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Lymphocytosis, Bone marrow hypocellularity, Splenomegaly, A...	ORPHA:86843
Lymphangioleiomyomatosis	Renal neoplasm, Hematuria, Lymphadenopathy, Abnormality of the lymphatic system, Ascites, Abnorma...	ORPHA:538
Helsmoortel-Van Der Aa Syndrome	Enlarged kidney, Decreased response to growth hormone stimulation test, Recurrent urinary tract i...	OMIM:615873
Osteoporosis-Pseudoglioma Syndrome	Isosexual precocious puberty, Microphthalmia	ORPHA:2788
Craniotelencephalic Dysplasia	Optic nerve hypoplasia, Microphthalmia	OMIM:218670
Acute Monoblastic/Monocytic Leukemia	Anemia, Lymphocytosis, Acute monocytic leukemia, Leukocytosis, Hypochromic anemia, Oliguria, Cerv...	ORPHA:514
Malakoplakia	Prostate neoplasm, Hematuria, Dysuria, Urinary hesitancy, Urinary urgency, Proteinuria, Orchitis,...	ORPHA:556
Cyclic Neutropenia	Lymphadenopathy, Recurrent tonsillitis, Decreased eosinophil count, Thrombocytopenia, Peritonitis...	ORPHA:2686
Chediak-Higashi Syndrome	Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Lymphadenopathy, Leukopenia, Splenomegaly, Impa...	OMIM:214500
Microphthalmia With Brain And Digit Anomalies	Microphthalmia, Cryptorchidism, Anophthalmia	ORPHA:139471
Pseudotrisomy 13 Syndrome	Microphthalmia, Bicornuate uterus, Renal agenesis, Renal hypoplasia, Cryptorchidism, Micropenis	OMIM:264480
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Microphthalmia, Anemia, Accessory spleen, Portal hypertension, Renal hypoplasia, Severe B lymphoc...	OMIM:620005
Proteasome-Associated Autoinflammatory Syndrome 2	Lymphadenopathy, B lymphocytopenia, Thrombocytopenia, Decreased proportion of memory B cells, Inc...	OMIM:618048
Meckel Syndrome 12	Bilateral renal agenesis, Ureteral hypoplasia, Renal hypoplasia, Vaginal atresia, Hypoplasia of t...	OMIM:616258
Microphthalmia, Lenz Type	Microphthalmia, Renal hypoplasia/aplasia, Hydroureter, Hypospadias, Hydronephrosis, Cryptorchidism	ORPHA:568
Histiocytosis-Lymphadenopathy Plus Syndrome	Decreased response to growth hormone stimulation test, Hepatomegaly, Lymphadenopathy, Azoospermia...	OMIM:602782
Immunodeficiency 47	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Normocytic anem...	OMIM:300972
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Decreased response to growth hormone stimulation test, Microphthalmia, Congenital hypoparathyroid...	OMIM:241410
Kapur-Toriello Syndrome	Microphthalmia, Micropenis, Cryptorchidism, Abnormality of the urinary system, Hypoplastic labia ...	OMIM:244300
Simpson-Golabi-Behmel Syndrome, Type 1	Enlarged kidney, Hepatomegaly, Hypospadias, Renal cyst, Cryptorchidism, Nephroblastoma, Hydroneph...	OMIM:312870
Pagod Syndrome	Renal hypoplasia/aplasia, Abnormal testis morphology, Female pseudohermaphroditism, Abnormality o...	ORPHA:991
Meige Disease	Absence of lymph node germinal center, Lymph node hypoplasia	ORPHA:90186
Middle Ear Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy	ORPHA:100084
Kaposi Sarcoma	Abnormality of the liver, Generalized lymphadenopathy, Abnormality of the spleen	ORPHA:33276
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatomegaly, Anemia, Lymphadenopathy, Vesicoureteral reflux, Cholestasis, Leukocytosis, Lymphade...	OMIM:615895
Meckel Syndrome 14	Microphthalmia, Polycystic kidney dysplasia, Aplasia of the uterus, Ambiguous genitalia, Hepatic ...	OMIM:619879
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Microphthalmia	ORPHA:324416
Ovarian Dysgenesis 2	Streak ovary, Hypoplasia of the uterus, Hypergonadotropic hypogonadism	OMIM:300510
Meckel Syndrome, Type 4	Microphthalmia, Renal cyst, Bile duct proliferation	OMIM:611134
Stromme Syndrome	Microphthalmia, Accessory spleen, Optic nerve hypoplasia, Hydronephrosis, Bilateral renal hypoplasia	OMIM:243605
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Neutropenia in presence of anti-neutr...	ORPHA:436159
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Enlarged kidney, Chronic neutropenia, Transient neutropenia, Bifid ureter, Nephroblastoma, Renal ...	ORPHA:500095
Gaucher Disease, Type I	Hepatomegaly, Anemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hypersplenism	OMIM:230800
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Elevated urinary aminoisobutyric acid, Microphthalmia, Beta-alaninuria, Elevated urinary 3-hydrox...	OMIM:614105
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Decreased testicular size, Hepatomegaly, Splenomegaly, Hypogonadism	OMIM:201100
Kapur-Toriello Syndrome	Microphthalmia, Hypoplastic labia majora, Hypoplasia of penis	ORPHA:2328
Mevalonic Aciduria	Fluctuating splenomegaly, Anemia, Lymphadenopathy, Leukocytosis, Normocytic hypoplastic anemia, H...	OMIM:610377
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Microphthalmia, Left ventricular hypertrophy	OMIM:613153
Townes-Brocks Syndrome 2	Hypospadias, Rectovaginal fistula, Vesicoureteral reflux, Bifid uterus, Crossed fused renal ectopia	OMIM:617466
Perrault Syndrome 3	Hypergonadotropic hypogonadism, Elevated circulating follicle stimulating hormone level, Elevated...	OMIM:614129
Developmental Delay With Variable Neurologic And Brain Abnormalities	Microphthalmia	OMIM:619694
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Hypopituitarism, Increased B cell count, Absent peripheral lymph nodes in presence of infection, ...	ORPHA:98813
Familial Mediterranean Fever	Pancreatitis, Lymphadenopathy, Leukocytosis, Ascites, Nephrotic syndrome, Nephrocalcinosis, Splen...	ORPHA:342
Pancreatoblastoma	Jaundice, Abnormal lymph node morphology, Pancreatic calcification	ORPHA:677
Hemophagocytic Lymphohistiocytosis, Familial, 2	Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Pancytopenia, Lymphadenopathy, Leukopenia, Sple...	OMIM:603553
46,Xx Sex Reversal 2	Hypoplasia of the uterus, Ovotestis, Azoospermia, Bifid scrotum, True hermaphroditism, Elevated c...	OMIM:278850
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Splenic cyst, Polycystic kidney dysplasia, Pancreatic hypoplasia, Cholestasis, Panc...	OMIM:610199
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Microphthalmia	OMIM:251270
Immunodeficiency 36 With Lymphoproliferation	Chronic lymphatic leukemia, B lymphocytopenia, Increased proportion of transitional B cells, Decr...	OMIM:616005
Drug Reaction With Eosinophilia And Systemic Symptoms	Lymphadenopathy, Renal insufficiency, Lymphocytosis, Nephrotic syndrome, Eosinophilia, Hepatitis,...	ORPHA:139402
46,Xy Sex Reversal 7	Streak ovary, Abnormal epididymis morphology, Gonadoblastoma, Hypoplasia of the fallopian tube, G...	OMIM:233420
Microphthalmia, Syndromic 11	Microphthalmia, Agenesis of pineal gland	OMIM:614402
Igg4-Related Submandibular Gland Disease	Enlarged lacrimal glands, Abnormality of the kidney, Abnormal salivary gland morphology, Prostati...	ORPHA:449432
Autoimmune Hemolytic Anemia, Warm Type	Autoimmune hemolytic anemia, Jaundice, Splenomegaly, Chronic lymphatic leukemia	ORPHA:90033
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic l...	ORPHA:98849
Hereditary Spherocytosis	Jaundice, Hepatomegaly, Anemia, Cholelithiasis, Spontaneous hemolytic crises, Increased mean corp...	ORPHA:822
Normosmic Congenital Hypogonadotropic Hypogonadism	Breast hypoplasia, Hypoplasia of the uterus, Male hypogonadism, Azoospermia, Hypoplasia of the ov...	ORPHA:432
Fanconi Anemia, Complementation Group N	Aplastic anemia, Microphthalmia, Ectopic kidney, Unilateral renal agenesis, Acute myeloid leukemi...	OMIM:610832
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Enlarged tons...	OMIM:606367
Hyper-Igd Syndrome	Lymphadenopathy, Leukocytosis, Lymphadenitis, Neutrophilia, Hepatosplenomegaly, Splenomegaly, Ele...	OMIM:260920
Poems Syndrome	Hepatomegaly, Lymphadenopathy, Visceromegaly, Ascites, Polycythemia, Splenomegaly, Hypogonadism, ...	ORPHA:2905
Braddock-Carey Syndrome 2	Microphthalmia, Thrombocytopenia	OMIM:619981
Meckel Syndrome, Type 1	Ambiguous genitalia, male, Microphthalmia, External genital hypoplasia, Accessory spleen, Polycys...	OMIM:249000
Squamous Cell Carcinoma Of The Anal Canal	Neoplasm of the liver, Lymphadenopathy	ORPHA:424019
Mixed Connective Tissue Disease	Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Leukopenia, Splenomegaly, Nephropathy...	ORPHA:809
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hepatomegaly, Jaundice, Hemophagocytosis, Anemia, Lymphadenopathy, Leukopenia, Splenomegaly, Thro...	OMIM:267700
Ovarian Dysgenesis 7	Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level, Elevated circu...	OMIM:618117
Melkersson-Rosenthal Syndrome	Oligosacchariduria, Lymphadenopathy	ORPHA:2483
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Microphthalmia	OMIM:613155
Hereditary Elliptocytosis	Jaundice, Cholelithiasis, Reticulocytosis, Poikilocytosis, Prolonged neonatal jaundice, Elliptocy...	ORPHA:288
Temtamy Syndrome	Microphthalmia	ORPHA:1777
Hydatidiform Mole	Anemia, Enlarged uterus	ORPHA:99927
Fryns Syndrome	Microphthalmia, Hypospadias, Vesicoureteral reflux, Bicornuate uterus, Hydronephrosis, Cryptorchi...	ORPHA:2059
Premature Ovarian Failure 3	Hypoplasia of the uterus	OMIM:608996
Dominant Beta-Thalassemia	Cirrhosis, Jaundice, Hypochromic microcytic anemia, Decreased mean corpuscular hemoglobin concent...	ORPHA:231226
Glycogen Storage Disease Of Heart, Lethal Congenital	Cardiomegaly, Enlarged kidney, Ascites	OMIM:261740
Fryns Syndrome	Microphthalmia, Ureteral duplication, Hypospadias, Bifid scrotum, Bicornuate uterus, Renal cyst, ...	OMIM:229850
Acute Promyelocytic Leukemia	Anemia, Lymphadenopathy, Hematuria, Pancytopenia, Leukocytosis, Leukopenia, Thrombocytopenia, Neu...	ORPHA:520
Immunodeficiency, Common Variable, 8, With Autoimmunity	Autoimmune hemolytic anemia, Lymphadenopathy, Pancytopenia, Decreased proportion of class-switche...	OMIM:614700
Pallister-Hall Syndrome	Decreased response to growth hormone stimulation test, Microphthalmia, Hydroureter, Ectopic kidne...	OMIM:146510
Hereditary Orotic Aciduria	Oroticaciduria, Anemia, Abnormality of the ureter, Orotic acid crystalluria, Splenomegaly, Aminoa...	ORPHA:30
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Renal hypoplasia, Microphthalmia, Lens coloboma	OMIM:618914
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia	OMIM:611038
Glycogen Storage Disease Xii	Normocytic anemia, Jaundice, Hepatomegaly, Decreased erythrocyte fructose-1,6-bisphosphate aldola...	OMIM:611881
Aregenerative Anemia	Erythroid hypoplasia, Lymphadenopathy, Pancytopenia, Abnormal proportion of CD8-positive T cells,...	ORPHA:101096
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative bur...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative bur...	OMIM:233710
Linear Skin Defects With Multiple Congenital Anomalies 2	Microphthalmia	OMIM:300887
Thrombocytopenia-Absent Radius Syndrome	Abnormality of the kidney, Aplasia of the uterus, Thrombocytopenia, Axial malrotation of the kidn...	ORPHA:3320
Niemann-Pick Disease, Type C1	Hepatomegaly, Sea-blue histiocytosis, Bone-marrow foam cells, Prolonged neonatal jaundice, Spleno...	OMIM:257220
Vacterl With Hydrocephalus	Microphthalmia, Renal hypoplasia/aplasia, Abnormal fallopian tube morphology, Anophthalmia, Renal...	ORPHA:3412
Proteasome-Associated Autoinflammatory Syndrome 3	Hepatomegaly, Anemia, Lymphadenopathy, Thrombocytopenia, Splenomegaly, Lymphopenia	OMIM:617591
Walker-Warburg Syndrome	Microphthalmia, Cryptorchidism, Anophthalmia, Hypoplasia of penis	ORPHA:899
Ovarian Dysgenesis 5	Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level, Elevated circu...	OMIM:617690
Lissencephaly 8	Microphthalmia	OMIM:617255
Ring Chromosome 10 Syndrome	Microphthalmia, Renal hypoplasia/aplasia	ORPHA:1438
8P11.2 Deletion Syndrome	Hypoplasia of penis, Azoospermia, Spherocytosis, Splenomegaly, Hypogonadism, Cryptorchidism, Hypo...	ORPHA:251066
Pulmonary Non-Tuberculous Mycobacterial Infection	Lymphadenopathy	ORPHA:411703
Aspartylglucosaminuria	Hepatomegaly, Vacuolated lymphocytes, Aspartylglucosaminuria, Macroorchidism, Neutropenia	OMIM:208400
Vaginal Atresia	Transverse vaginal septum, Pelvic mass, Vaginal hematocele, Imperforate hymen, Bicornuate uterus,...	ORPHA:65681
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Optic nerve hypoplasia, Microphthalmia	OMIM:615181
Basel-Vanagaite-Smirin-Yosef Syndrome	Clitoral hypertrophy, Hydronephrosis, Hypospadias, Microphthalmia	OMIM:616449
Beta-Thalassemia Major	Anisopoikilocytosis, Cirrhosis, Jaundice, Hepatomegaly, Hypochromic microcytic anemia, Decreased ...	ORPHA:231214
Adams-Oliver Syndrome 5	Portal vein thrombosis, Hypersplenism, Splenomegaly, Right ventricular hypertrophy	OMIM:616028
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative bur...	OMIM:233690
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Microphthalmia, External genital hypoplasia, Hypoplasia of penis, Anophthalmia, Hypogonadism, Cry...	ORPHA:2250
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Microphthalmia, Cryptorchidism	ORPHA:404440
Müllerian Aplasia And Hyperandrogenism	Renal agenesis, Hypoplasia of the uterus, Abnormality of the ovary, Abnormal vagina morphology	ORPHA:247768
Chronic Granulomatous Disease	Hepatomegaly, Mediastinal lymphadenopathy, Liver abscess, Splenomegaly, Abnormality of neutrophils	ORPHA:379
Premature Ovarian Failure 6	Streak ovary, Elevated circulating follicle stimulating hormone level, Elevated circulating lutei...	OMIM:612310
Fanconi Anemia	Microphthalmia, Renal hypoplasia/aplasia, Abnormal renal morphology, Leukopenia, Hypogonadism, Hy...	ORPHA:84
Nodular Non-Suppurative Panniculitis	Hepatomegaly, Splenomegaly	ORPHA:33577
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Female external genitalia in individual with 46,XY karyotype, Ambiguous genitalia, male, Hypoplas...	ORPHA:90796
Baraitser-Winter Syndrome 2	Microphthalmia	OMIM:614583
Subaortic Stenosis-Short Stature Syndrome	Biliary tract abnormality, Microphthalmia	ORPHA:3191
Chromosome 13Q33-Q34 Deletion Syndrome	Penoscrotal transposition, Microphthalmia, Hypospadias, Bifid scrotum, Left ventricular hypertrop...	OMIM:619148
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Urachus fistula, Hepatomegaly, Anemia, Erythroid hypoplasia, Recurrent urinary tract infections, ...	OMIM:612541
Ovarian Dysgenesis 9	Hypoplasia of the ovary, Hypoplasia of the uterus, Elevated circulating follicle stimulating horm...	OMIM:619665
Hyperimmunoglobulinemia D With Periodic Fever	Hepatomegaly, Lymphadenopathy, Peritonitis	ORPHA:343
Acute Generalized Exanthematous Pustulosis	Lymphadenopathy, Cholestasis, Leukocytosis, Neutrophilia, Eosinophilia, Renal insufficiency, Neut...	ORPHA:293173
Perrault Syndrome 6	Streak ovary, Hypoplasia of the uterus	OMIM:617565
Microphthalmia With Limb Anomalies	Microphthalmia, Anophthalmia, Unilateral cryptorchidism	OMIM:206920
Hartsfield Syndrome	Microphthalmia	ORPHA:2117
Premature Ovarian Failure 18	Hypoplasia of the ovary, Hypoplasia of the uterus, Elevated circulating follicle stimulating horm...	OMIM:619203
Multiple Myeloma	Acute kidney injury, Anemia, Lymphadenopathy, Abnormality of the bladder, Nephrotic syndrome, Spl...	ORPHA:29073
Microphthalmia, Isolated 8	Optic nerve hypoplasia, Microphthalmia, True anophthalmia, Anophthalmia	OMIM:615113
Premature Ovarian Failure 13	Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level	OMIM:617442
Familial Mediterranean Fever	Hepatomegaly, Leukocytosis, Nephrotic syndrome, Neutrophilia, Splenomegaly, Peritonitis, Orchitis...	OMIM:249100
Joubert Syndrome 2	Microphthalmia, Nephronophthisis, Hypoplastic male external genitalia, Renal cyst, Renal insuffic...	OMIM:608091
Waldenström Macroglobulinemia	Normocytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Abnormality of neutrophils, Renal...	ORPHA:33226
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Clitoral hypertrophy, Precocious puberty in males, Long penis, Decreased testicular size, Hypopla...	OMIM:202010
Holoprosencephaly-Postaxial Polydactyly Syndrome	Microphthalmia, Renal hypoplasia/aplasia, Hypospadias, Hypoplasia of penis, Thyroid hypoplasia, A...	ORPHA:2166
Ritscher-Schinzel Syndrome 3	Microphthalmia, Cryptorchidism	OMIM:619135
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Cholestatic liver disease, Cirrhosis, Hepatomegaly, Anemia, Lymphadenopathy, Accessory spleen, Mi...	OMIM:619418
Gray Platelet Syndrome	Thrombocytopenia, Splenomegaly, Abnormal number of alpha granules	OMIM:139090
Kikuchi-Fujimoto Disease	Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymph node morphology, Lymphocytosis, Enlargement...	ORPHA:50918
Mosaic Trisomy 1	Microphthalmia, Renal cortical cysts, Renal cyst, Hepatic agenesis, Penile hypospadias, Micropenis	ORPHA:1692
Martsolf Syndrome 1	Microphthalmia, Cryptorchidism, Micropenis, Hypogonadotropic hypogonadism	OMIM:212720
Frontonasal Dysplasia 1	Microphthalmia	OMIM:136760
Microphthalmia, Syndromic 3	Microphthalmia, Hypospadias, Anophthalmia, Optic nerve hypoplasia, Anterior pituitary hypoplasia,...	OMIM:206900
Hyperparathyroidism, Neonatal Severe	Polyuria, Hepatomegaly, Anemia, Hypercalciuria, Primary hyperparathyroidism, Hyperphosphaturia, S...	OMIM:239200
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Bilateral microphthalmos, Cryptorchidism	ORPHA:369891
Primary Sclerosing Cholangitis	Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Abnormal biliary tr...	ORPHA:171
Hyperlipoproteinemia, Type I	Jaundice, Acute pancreatitis, Splenomegaly, Hepatosplenomegaly	OMIM:238600
Satoyoshi Syndrome	Hypoplasia of the ovary, Hypoplasia of the uterus, Abnormality of the uterus, Abnormality of the ...	ORPHA:3130
Jacobsen Syndrome	Annular pancreas, Microphthalmia, Hypospadias, Labial hypoplasia, Clitoral hypoplasia, Thrombocyt...	OMIM:147791
Congenital Disorder Of Glycosylation, Type Iq	Microphthalmia, Microcytic anemia	OMIM:612379
Chromosome 1Q41-Q42 Deletion Syndrome	Microphthalmia, Cryptorchidism, Supernumerary nipple	OMIM:612530
Autoimmune Lymphoproliferative Syndrome	Lymphocytosis, Reticulocytosis, Bone marrow hypocellularity, Splenomegaly, Lymphopenia, Hepatocel...	ORPHA:3261
8Q21.11 Microdeletion Syndrome	Microphthalmia, Cryptorchidism, Hypoplasia of penis	ORPHA:284160
Q Fever	Hepatomegaly, Anemia, Lymphadenopathy, Hematuria, Hepatosplenomegaly, Splenomegaly, Thrombocytope...	ORPHA:781
Myoectodermal Gonadal Dysgenesis Syndrome	Gonadal dysgenesis, Unilateral renal agenesis, Accessory spleen, Clitoral hypoplasia, Elevated ci...	OMIM:618419
Coccidioidomycosis	Abnormality of the female genitalia, Abnormality of the kidney, Mediastinal lymphadenopathy, Panc...	ORPHA:228123
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Microphthalmia, Oligosacchariduria	ORPHA:163649
Periodic Fever, Familial, Autosomal Dominant	Hepatic amyloidosis, Hepatomegaly, Cervical lymphadenopathy	OMIM:142680
Hyperlipoproteinemia, Type Id	Hepatomegaly, Pancreatitis, Splenomegaly, Recurrent pancreatitis	OMIM:615947
Spondylo-Ocular Syndrome	Microphthalmia, Aplasia/Hypoplasia of the lens	ORPHA:85194
Duane-Radial Ray Syndrome	Microphthalmia, Optic disc hypoplasia, Vesicoureteral reflux, Renal agenesis, Renal hypoplasia, H...	OMIM:607323
Hydrolethalus Syndrome 1	Adrenal gland dysgenesis, Microphthalmia, Hypospadias, Abnormal vagina morphology, Accessory sple...	OMIM:236680
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos	ORPHA:77299
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Vaginal atresia, Anophthalmia	OMIM:248450
Neuroblastoma	Elevated urinary catecholamine level, Anemia, Lymphadenopathy, Elevated urinary vanillylmandelic ...	ORPHA:635
Chromosome 8Q21.11 Deletion Syndrome	Microphthalmia, Cryptorchidism, Micropenis	OMIM:614230
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Microphthalmia, Renal cyst, Renal hypoplasia, Ambiguous genitalia, Cryptorchidism	OMIM:616300
1Q21.1 Microdeletion Syndrome	Cryptorchidism, Hydronephrosis, Microphthalmia, Vesicoureteral reflux	ORPHA:250989
Common Variable Immunodeficiency	Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Splenomegaly, Lymphopen...	ORPHA:1572
Ohdo Syndrome, X-Linked	Microphthalmia, Small scrotum, Shawl scrotum, Cryptorchidism, Micropenis	OMIM:300895
Treacher-Collins Syndrome	Microphthalmia, Rectovaginal fistula, Hypoplasia of penis, Thyroid hypoplasia, Hypoplasia of the ...	ORPHA:861
Granulomatous Disease, Chronic, X-Linked	Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Ascites, Splenomegaly, Impaired oxid...	OMIM:306400
Degcags Syndrome	Microphthalmia, Cholestasis, Abnormal spleen morphology, Leukopenia, Congenital hypoplastic anemi...	OMIM:619488
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Hypochromic microcytic anemia, B lymphocytopenia, Sideroblastic anemia, Nephrocalcinosis, Splenom...	OMIM:616084
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Nephroblastoma, Renal hypoplasia, Splenomegaly	OMIM:612918
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Pancytopenia, Renal artery aneurysm, Leukocytosis, Portal ...	OMIM:615688
Anterior Segment Dysgenesis 5	Rieger anomaly, Microphthalmia, Hypoplasia of the fovea, Hypoplasia of the iris	OMIM:604229
Linear Skin Defects With Multiple Congenital Anomalies 1	Clitoral hypertrophy, Microphthalmia, Hypospadias, Ovotestis, Chordee, Micropenis, Hypoplasia of ...	OMIM:309801
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Increased mean platelet volume, Thrombocytopenia, Splenomegaly, Stomatocytosis, Hemolytic anemia	OMIM:153670
Graft Versus Host Disease	Jaundice, Lymphadenopathy, Hemophagocytosis, Acute hepatitis, Chronic hepatitis, Hepatosplenomegaly	ORPHA:39812
3Q29 Microdeletion Syndrome	Microphthalmia, Horseshoe kidney, Hypospadias	ORPHA:65286
Cockayne Syndrome Type 3	Microphthalmia, Hepatomegaly, Hydroureter, Unilateral renal agenesis, Neurogenic bladder, Renal h...	ORPHA:90324
Cockayne Syndrome B	Microphthalmia, Hepatomegaly, Renal insufficiency, Hypoplasia of the iris, Proteinuria, Splenomeg...	OMIM:133540
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Autoimmune hemolytic anemia, Iron deficiency anemia, Lymphadenopathy, Reduced proportion of CD4-n...	ORPHA:37042
Holoprosencephaly	Microphthalmia, Anterior hypopituitarism, Hypoplasia of penis, Anophthalmia, Panhypopituitarism, ...	ORPHA:2162
Adams-Oliver Syndrome 2	Microphthalmia	OMIM:614219
Brucellosis	Liver abscess, Anemia, Hepatomegaly, Lymphadenopathy, Leukocytosis, Intrarenal abscess, Leukopeni...	ORPHA:1304
T-Cell Immunodeficiency With Thymic Aplasia	Lymphadenopathy, Recurrent urinary tract infections, Decreased proportion of naive T cells, T lym...	ORPHA:83471
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Aplasia of the vagina, Aplasia of the uterus, Hydronephrosis, Urethral atresia, Absent external g...	OMIM:271520
Thrombocytopenia-Absent Radius Syndrome	Renal malrotation, Ureteral duplication, Anemia, Vesicoureteral reflux, Aplasia of the uterus, Le...	OMIM:274000
Perrault Syndrome 4	Hypoplasia of the ovary, Increased circulating gonadotropin level, Hypoplasia of the uterus, Bico...	OMIM:615300
Primary Biliary Cholangitis	Cirrhosis, Jaundice, Hepatomegaly, Hepatocellular carcinoma, Biliary cirrhosis, Portal hypertensi...	ORPHA:186
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia	Hypoplasia of the uterus, Hypogonadotropic hypogonadism	OMIM:614842
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Lymphadenopathy, Neutrophilia, Leukocytosis, Increased proportion of CD4-positive T cells	OMIM:617099
Solitary Median Maxillary Central Incisor	Decreased response to growth hormone stimulation test, Microphthalmia, Anterior hypopituitarism, ...	OMIM:147250
Bosma Arhinia Microphthalmia Syndrome	Microphthalmia, Hypospadias, Cryptorchidism, Micropenis, Hypogonadotropic hypogonadism, Hypoplast...	OMIM:603457
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Precocious puberty, Microphthalmia, Hypospadias, Anophthalmia	OMIM:615877
Gaucher Disease, Type Iiic	Cardiomegaly, Hepatomegaly, Splenomegaly, Pancytopenia	OMIM:231005
Histiocytoid Cardiomyopathy	Microphthalmia, Hepatomegaly, Congenital aphakia, Renal cyst, Cardiomegaly, Polycystic ovaries	ORPHA:137675
Frontonasal Dysplasia 3	Microphthalmia	OMIM:613456
Trisomy 18	Microphthalmia, Abnormality of the upper urinary tract, Hydronephrosis, Cryptorchidism, Abnormal ...	ORPHA:3380
Basel-Vanagaite-Smirin-Yosef Syndrome	Microphthalmia, Hypospadias, Cholelithiasis, Hydronephrosis, Male urethral meatus stenosis	ORPHA:464738
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Lymphadenopathy, Leukocytosis, Orchitis, Splenomegaly, Peritonitis	ORPHA:32960
Stevenson-Carey Syndrome	Recurrent urinary tract infections, Microphthalmia	OMIM:611961
17Q12 Microduplication Syndrome	Microphthalmia	ORPHA:261272
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Microphthalmia	OMIM:152950
Carney Triad	Mediastinal lymphadenopathy, Lymphadenopathy, Anemia, Pheochromocytoma, Ascites	ORPHA:139411
Adams-Oliver Syndrome	Cirrhosis, Microphthalmia, Ascites, Portal hypertension, Thrombocytopenia, Leukopenia, Congenital...	ORPHA:974
Congenital Syphilis	Pancreatitis, Anemia, Lymphadenopathy, Nephrotic syndrome, Prolonged neonatal jaundice, Hepatospl...	ORPHA:499009
Monosomy 18P	Microphthalmia	ORPHA:1598
Congenital Muscular Dystrophy With Cerebellar Involvement	Optic nerve hypoplasia, Microphthalmia	ORPHA:370959
Familial Tumoral Calcinosis	Hepatomegaly, Nephrocalcinosis, Splenomegaly	ORPHA:53715
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Renal salt wasting, Clitoral hypertrophy, Premature pubarche, Precocious puberty in females, Long...	ORPHA:90794
Farber Disease	Anemia, Lymphadenopathy, Intrahepatic cholestasis with episodic jaundice, Ascites, Hepatosplenome...	ORPHA:333
Joubert Syndrome 14	Microphthalmia, Renal cyst	OMIM:614424
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Optic nerve hypoplasia, Microphthalmia	OMIM:614833
Cutaneous Neuroendocrine Carcinoma	Lymphoid leukemia, Chronic noninfectious lymphadenopathy	ORPHA:79140
Lipodystrophy, Congenital Generalized, Type 1	Cirrhosis, Hepatomegaly, Clitoral hypertrophy, Acute pancreatitis, Nephrolithiasis, Splenomegaly,...	OMIM:608594
22Q11.2 Deletion Syndrome	Microphthalmia, Hypoparathyroidism, Hypospadias, Cholelithiasis, Abnormality of the tonsils, Poly...	ORPHA:567
Hennekam Syndrome	Lymphadenopathy, Ectopic kidney, Ascites, Lymphangioma, Splenomegaly, Pulmonary lymphangiectasia,...	ORPHA:2136
Temtamy Syndrome	Microphthalmia	OMIM:218340
Myoclonic-Astatic Epilepsy	Microphthalmia	ORPHA:1942
Cat Eye Syndrome	Microphthalmia, Biliary atresia, Vesicoureteral reflux, Renal agenesis, Hydronephrosis, Horseshoe...	OMIM:115470
Mosaic Variegated Aneuploidy Syndrome	Microphthalmia, Ascites, Vaginal neoplasm, Acute lymphoblastic leukemia, Nephroblastoma, Ambiguou...	ORPHA:1052
Garg-Mishra Progeroid Syndrome	Microvesicular hepatic steatosis, Microphthalmia	OMIM:620601
Okamoto Syndrome	Urinary incontinence, Abnormally large globe, Ureteropelvic junction obstruction, Hydronephrosis,...	ORPHA:2729
Bartsocas-Papas Syndrome 1	Microphthalmia, Ectopic kidney, Hypoplastic labia majora, Hypoplastic male external genitalia, Bi...	OMIM:263650
Nance-Horan Syndrome	Microphthalmia	ORPHA:627
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia	OMIM:167730
Cousin Syndrome	Ambiguous genitalia, male, Microphthalmia, Hydronephrosis, Ambiguous genitalia, female	OMIM:260660
Sandestig-Stefanova Syndrome	Microphthalmia	OMIM:618804
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Microphthalmia, Optic nerve hypoplasia, Hypoplastic male external genitalia, Renal dysplasia, Bup...	OMIM:236670
Acute Interstitial Pneumonia	Reduced hematocrit, Lymphadenopathy	ORPHA:79126
Sarcoidosis	Abnormal liver parenchyma morphology, Enlarged lacrimal glands, Hepatomegaly, Anemia, Lymphadenop...	ORPHA:797
Fraser Syndrome 1	Clitoral hypertrophy, Renal hypoplasia/aplasia, Bilateral microphthalmos, Hypospadias, Anophthalm...	OMIM:219000
Primary Hepatic Neuroendocrine Carcinoma	Hepatomegaly, Biliary tract obstruction, Intrahepatic cholestasis with episodic jaundice, Intermi...	ORPHA:100085
Multiple Endocrine Neoplasia Type 2	Elevated urinary catecholamine level, Elevated urinary vanillylmandelic acid, Cervical neoplasm, ...	ORPHA:653
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Microphthalmia, Abnormally large globe	OMIM:615249
Autosomal Dominant Keratitis	Bilateral microphthalmos, Aniridia, Hypoplastic iris stroma, Hypoplasia of the fovea, Macular hyp...	ORPHA:2334
Cohen Syndrome	Microphthalmia, Cryptorchidism, Neutropenia	ORPHA:193
Galloway-Mowat Syndrome 3	Microphthalmia, Glomerular sclerosis, Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuri...	OMIM:617729
Cockayne Syndrome	Microphthalmia, Hepatomegaly, Urinary incontinence, Unilateral renal agenesis, Neurogenic bladder...	ORPHA:191
Primary Sjögren Syndrome	Abnormality of the kidney, Normocytic anemia, Vaginal dryness, Lymphadenopathy, Normochromic anem...	ORPHA:289390
Microphthalmia/Coloboma 12	Optic nerve aplasia, Microphthalmia, Vesicoureteral reflux	OMIM:120200
Immunodeficiency 31C	Autoimmune hemolytic anemia, Hepatomegaly, Impaired lymphocyte transformation with phytohemagglut...	OMIM:614162
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
Townes-Brocks Syndrome	Abnormality of the kidney, Microphthalmia, Hypospadias, Ectopic kidney, Hypoplasia of penis, Abno...	ORPHA:857
Lipodystrophy, Congenital Generalized, Type 2	Cirrhosis, Hepatomegaly, Clitoral hypertrophy, Acute pancreatitis, Nephrolithiasis, Elevated hemo...	OMIM:269700
Frontonasal Dysplasia 2	Microphthalmia, Bilateral cryptorchidism	OMIM:613451
Pelvis-Shoulder Dysplasia	Ambiguous genitalia, Bilateral microphthalmos, Hydronephrosis	ORPHA:2839
Dubowitz Syndrome	Aplastic anemia, Microphthalmia, Hypospadias, Hypoplasia of the iris, Acute lymphoblastic leukemi...	OMIM:223370
Blepharophimosis, Ptosis, And Epicanthus Inversus	Increased circulating gonadotropin level, Microphthalmia, Hypoplasia of the uterus	OMIM:110100
Roberts Syndrome	Clitoral hypertrophy, Microphthalmia, Long penis, Polycystic kidney dysplasia, Thrombocytopenia, ...	ORPHA:3103
Bartsocas-Papas Syndrome 2	Microphthalmia	OMIM:619339
Bronchial Neuroendocrine Tumor	Hepatomegaly, Chronic noninfectious lymphadenopathy, Elevated circulating growth hormone concentr...	ORPHA:97287
Spondyloenchondrodysplasia With Immune Dysregulation	Lymphadenopathy, Tubulointerstitial fibrosis, T lymphocytopenia, Lymphopenia, Autoimmune thromboc...	OMIM:607944
Gallbladder Neuroendocrine Tumor	Biliary tract obstruction, Intermittent jaundice, Chronic noninfectious lymphadenopathy, Ascites,...	ORPHA:100086
X-Linked Dominant Chondrodysplasia Punctata	Microphthalmia, Hydronephrosis	ORPHA:35173
Hardikar Syndrome	Intrahepatic bile duct dilatation, Cholestasis, Prolonged neonatal jaundice, Splenomegaly, Hypers...	OMIM:301068
Oculocerebrorenal Syndrome Of Lowe	Abnormal renal tubule morphology, Glomerulopathy, Microphthalmia, Anemia, Hematuria, Azoospermia,...	ORPHA:534
Chédiak-Higashi Syndrome	Jaundice, Anemia, Hemophagocytosis, Increased proportion of CD25+ mast cells, Pancytopenia, Abnor...	ORPHA:167
Microphthalmia, Isolated, With Corectopia	Microphthalmia	OMIM:156900
Neuroendocrine Tumor Of The Colon	Hepatomegaly, Chronic noninfectious lymphadenopathy	ORPHA:100080
Congenital Primary Aphakia	Microphthalmia, Aniridia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenita...	ORPHA:83461
Pontocerebellar Hypoplasia Type 7	Gonadal dysgenesis, Clitoral hypertrophy, Abnormal scrotal rugation, Aplasia of the uterus, Micro...	ORPHA:284339
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Hepatomegaly, Mediastinal lymphadenopathy, Hilar lymph node enlargement, Cholestasis, Leukocytosis	OMIM:620233
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Absent peripheral lymph nodes in pres...	OMIM:600802
Estrogen Resistance Syndrome	Breast hypoplasia, Increased circulating gonadotropin level, Hypoplasia of the uterus, Enlarged p...	ORPHA:785
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Microphthalmia, Hypospadias, Pelvic kidney, Optic nerve hypoplasia, Renal agenesis, Renal hypopla...	ORPHA:508498
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Annular pancreas, Microphthalmia, Hypospadias, Vesicoureteral reflux, Renal cyst, Cryptorchidism	OMIM:616975
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Microphthalmia, Uterus didelphys, Absent gallbladder, Septate vagina, Micropenis	OMIM:617925
Seckel Syndrome 7	Hypoplasia of the uterus	OMIM:614851
Microphthalmia With Linear Skin Defects Syndrome	Epispadias, Clitoral hypertrophy, Microphthalmia, Hypospadias, Abnormal fallopian tube morphology...	ORPHA:2556
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Optic nerve hypoplasia, Aplasia of the uterus, Unilateral renal agenesis, Aplasia of the vagina	ORPHA:457284
Igg4-Related Ophthalmic Disease	Enlarged lacrimal glands, Abnormality of the kidney, Prostatitis, Pancreatitis, Cholangitis, Lymp...	ORPHA:449563
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Microphthalmia, Supernumerary nipple	OMIM:620098
Reynolds Syndrome	Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Cholestasis, Bil...	OMIM:613471
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Microphthalmia	OMIM:300863
Satoyoshi Syndrome	Hypoplasia of the uterus	OMIM:600705
Fraser Syndrome	Microphthalmia, Renal hypoplasia/aplasia, Hypospadias, Abnormal vagina morphology, Hypoplasia of ...	ORPHA:2052
Charge Syndrome	Decreased response to growth hormone stimulation test, External genital hypoplasia, Hypoparathyro...	OMIM:214800
Galloway-Mowat Syndrome 1	Microphthalmia, Focal segmental glomerulosclerosis, Hypoplasia of the iris, Nephrotic syndrome, P...	OMIM:251300
Acro-Renal-Ocular Syndrome	Microphthalmia, Renal hypoplasia/aplasia, Optic disc hypoplasia, Vesicoureteral reflux, Bladder d...	ORPHA:959
Immunodeficiency 55	Absent natural killer cells, Neutropenia, Lymphadenopathy, Lymphopenia	OMIM:617827
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Renal dysplasia, Microphthalmia	OMIM:618571
Pierson Syndrome	Microphthalmia, Hypoplasia of the ciliary body, Hypoplasia of the iris, Nephrotic syndrome, Riege...	OMIM:609049
Crimean-Congo Hemorrhagic Fever	Jaundice, Hepatomegaly, Lymphadenopathy, Hematuria, Pancytopenia, Parotitis, Acute pancreatitis, ...	ORPHA:99827
Otodental Syndrome	Microphthalmia, Lens coloboma	ORPHA:2791
Tangier Disease	Anemia, Chronic noninfectious lymphadenopathy, Orange discolored tonsils, Thrombocytopenia, Hepat...	ORPHA:31150
Malt Lymphoma	Mediastinal lymphadenopathy, Anemia, Lymphadenopathy	ORPHA:52417
Estrogen Resistance	Polycystic ovaries, Hypoplasia of the uterus, Breast aplasia	OMIM:615363
Pulmonary Capillary Hemangiomatosis	Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:199241
Anterior Segment Dysgenesis 2	Microphthalmia, Anterior segment of eye aplasia, Congenital aphakia, Aniridia	OMIM:610256
Popliteal Pterygium Syndrome	Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,...	OMIM:119500
Focal Dermal Hypoplasia	Microphthalmia, Renal hypoplasia/aplasia, Hypoplasia of the iris, Hydronephrosis, Multicystic kid...	ORPHA:2092
Frontofacionasal Dysplasia	Microphthalmia	ORPHA:1791
Selective Igm Deficiency	Decreased proportion of CD8-positive T cells, Lymphadenopathy, Decreased proportion of CD3-positi...	ORPHA:331235
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Buphthalmos, Microphthalmia	OMIM:212550
Cornea Plana 2, Autosomal Recessive	Microphthalmia	OMIM:217300
Pallister-Hall Syndrome	Microphthalmia, Ectopic kidney, Thyroid hypoplasia, Small scrotum, Hydrometrocolpos, Hypospadias,...	ORPHA:672
Anterior Segment Dysgenesis 7	Buphthalmos, Microphthalmia	OMIM:269400
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Generalized lymphadenopathy	OMIM:620232
Xeroderma Pigmentosum, Complementation Group B	Microphthalmia, Hypogonadism	OMIM:610651
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Lymphadenopathy, Lymphocytosis, Decreased mean platelet volume, Thrombocytopenia, Cervical lympha...	OMIM:617718
3P25.3 Microdeletion Syndrome	Microphthalmia	ORPHA:435638
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Microphthalmia, Hypospadias, Bifid scrotum, Clitoral hypoplasia, Cryptorchidism, Micropenis, Hors...	OMIM:609945
Neuroendocrine Tumor Of The Rectum	Hepatomegaly, Chronic noninfectious lymphadenopathy	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Hepatomegaly, Chronic noninfectious lymphadenopathy	ORPHA:100082
Trichothiodystrophy 1, Photosensitive	Microphthalmia, Hypogonadism	OMIM:601675
Heart And Brain Malformation Syndrome	Microphthalmia	OMIM:616920
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Microphthalmia	ORPHA:163966
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Microphthalmia, Hypoplastic nipples, Thyroid hypoplasia, Absent nipple, Prolonged neonatal jaundi...	OMIM:620186
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Abnormal renal collecting system morphology, Bilateral microphthalmos, Unilateral renal agenesis,...	ORPHA:468631
Chromosome 17Q12 Duplication Syndrome	Microphthalmia	OMIM:614526
Teebi-Shaltout Syndrome	Microphthalmia, Hydronephrosis, Horseshoe kidney, Ureteral stenosis	OMIM:272950
Behçet Disease	Glomerulopathy, Pancreatitis, Lymphadenopathy, Orchitis, Splenomegaly, Renal insufficiency	ORPHA:117
Chondrodysplasia Punctata 2, X-Linked Dominant	Microphthalmia, Hydronephrosis	OMIM:302960
Rodrigues Blindness	Microphthalmia	OMIM:268320
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia	OMIM:305390
Ileal Neuroendocrine Tumor	Lymphadenopathy, Hydronephrosis, Iron deficiency anemia, Extrahepatic cholestasis	ORPHA:100078
Phocomelia, Schinzel Type	Cryptorchidism, Aplasia of the uterus, Hypoplasia of penis	ORPHA:2879
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Optic nerve hypoplasia, Bilateral microphthalmos	OMIM:607597
Monosomy 9P	Microphthalmia, Hypospadias, Ureteropelvic junction obstruction, Ambiguous genitalia, Cryptorchidism	ORPHA:261112
Skin Creases, Congenital Symmetric Circumferential, 2	Microphthalmia, Hypospadias, Ureterocele, Small scrotum, Cryptorchidism	OMIM:616734
2Q31.1 Microdeletion Syndrome	Microphthalmia, Cryptorchidism	ORPHA:251014
Incontinentia Pigmenti	Breast hypoplasia, Microphthalmia, Breast aplasia, Hypoplastic nipples, Leukocytosis, Hypoplasia ...	OMIM:308300
Charge Syndrome	Microphthalmia, Anterior hypopituitarism, Anophthalmia, Labial hypoplasia, Vesicoureteral reflux,...	ORPHA:138
Pelvis-Shoulder Dysplasia	Microphthalmia	OMIM:169550
Nasopalpebral Lipoma-Coloboma Syndrome	Bilateral microphthalmos, Microphthalmia	ORPHA:2399
Rothmund-Thomson Syndrome, Type 2	Annular pancreas, Cryptorchidism, Hypogonadism, Microphthalmia	OMIM:268400
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Hydrometrocolpos, Hepatomegaly, Splenomegaly, Vaginal atresia, Horseshoe kidney	OMIM:617088
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Decreased response to growth hormone stimulation test, Renal malrotation, Hypoplasia of the uterus	OMIM:615866
Hallermann-Streiff Syndrome	Microphthalmia, Cryptorchidism, Abdominal situs inversus	ORPHA:2108
Vitreoretinochoroidopathy	Microphthalmia	OMIM:193220
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microphthalmia	ORPHA:231736
Idiopathic Hypereosinophilic Syndrome	Portal fibrosis, Cholangitis, Generalized lymphadenopathy, Pancreatitis, Anemia, Myeloproliferati...	ORPHA:3260
Curry-Jones Syndrome	Microphthalmia	ORPHA:1553
Skin Creases, Congenital Symmetric Circumferential, 1	Microphthalmia, Hypoplastic nipples	OMIM:156610
Neuroendocrine Neoplasm Of Appendix	Hepatomegaly, Ovarian neoplasm, Chronic noninfectious lymphadenopathy, Adrenocorticotropic hormon...	ORPHA:100079
Microphthalmia With Limb Anomalies	Microphthalmia, Cryptorchidism, Horseshoe kidney, True anophthalmia	ORPHA:1106
Fetal Alcohol Syndrome	Microphthalmia	ORPHA:1915
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Microphthalmia	OMIM:617306
Oculofaciocardiodental Syndrome	Microphthalmia	ORPHA:2712
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Lymphadenopathy, Hepatosplenomegaly, Anemia	ORPHA:85408
Hallermann-Streiff Syndrome	Microphthalmia, Cryptorchidism	OMIM:234100
Roberts-Sc Phocomelia Syndrome	Clitoral hypertrophy, Enlarged labia minora, Microphthalmia, Hypospadias, Long penis, Accessory s...	OMIM:268300
Wolf-Hirschhorn Syndrome	Hypospadias, Accessory spleen, Aplasia of the uterus, Precocious puberty, Biliary tract abnormali...	OMIM:194190
Immunodeficiency 82 With Systemic Inflammation	Anemia, Lymphadenopathy, Anoperineal fistula, B lymphocytopenia, Decreased proportion of naive T ...	OMIM:619381
Monosomy 9Q22.3	Nephroblastoma, Ovarian fibroma, Microphthalmia	ORPHA:77301
Lowe Oculocerebrorenal Syndrome	Low-molecular-weight proteinuria, Bicarbonaturia, Microphthalmia, Hyperphosphaturia, Renal Fancon...	OMIM:309000
Familial Exudative Vitreoretinopathy	Microphthalmia	ORPHA:891
Igg4-Related Dacryoadenitis And Sialadenitis	Enlarged lacrimal glands, Abnormal salivary gland morphology, Lymphadenopathy, Abnormality of the...	ORPHA:79078
Woodhouse-Sakati Syndrome	Hypoplasia of the fallopian tube, Hypergonadotropic hypogonadism, Decreased testicular size, Micr...	OMIM:241080
Steinfeld Syndrome	Absent gallbladder, Microphthalmia, Unilateral renal dysplasia	OMIM:184705
Aicardi-Goutieres Syndrome 7	Hepatomegaly, Anemia, Pancytopenia, Hepatitis, Nephrotic syndrome, Thrombocytopenia, Splenomegaly...	OMIM:615846
Chromosome 13Q14 Deletion Syndrome	Microphthalmia, Cryptorchidism, Micropenis, Supernumerary nipple	OMIM:613884
Blau Syndrome	Abnormal salivary gland morphology, Anemia, Lymphadenopathy, Clear cell renal cell carcinoma, Spl...	ORPHA:90340
Microphthalmia/Coloboma 9	Microphthalmia	OMIM:615145
Trichothiodystrophy 4, Nonphotosensitive	Microphthalmia	OMIM:234050
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Townes-Brocks Syndrome 1	Hypospadias, Rectovaginal fistula, Renal insufficiency, Vesicoureteral reflux, Bifid scrotum, Rec...	OMIM:107480
Sarcoidosis, Susceptibility To, 1	Enlarged lacrimal glands, Hepatomegaly, Mediastinal lymphadenopathy, Abnormal salivary gland morp...	OMIM:181000
Renpenning Syndrome 1	Microphthalmia, Hypospadias, Phimosis, Decreased testicular size, Renal hypoplasia	OMIM:309500
Woodhouse-Sakati Syndrome	Decreased response to growth hormone stimulation test, Hypoplasia of the uterus, Abnormal spermat...	ORPHA:3464
Proboscis Lateralis	Microphthalmia, External genital hypoplasia, Unilateral renal agenesis, Anophthalmia, Optic nerve...	ORPHA:141099
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uterus	ORPHA:2736
Yunis-Varon Syndrome	Clitoral hypertrophy, Microphthalmia, Bilateral microphthalmos, Hypospadias, Renal artery stenosi...	ORPHA:3472
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Buphthalmos, Microphthalmia	OMIM:616538
Cerebrooculofacioskeletal Syndrome 4	Bilateral microphthalmos	OMIM:610758
Systemic Lupus Erythematosus	Hematuria, Lymphadenopathy, Pyuria, Thrombocytopenia, Leukopenia, Proteinuria, Hemolytic anemia, ...	ORPHA:536
Frontorhiny	Hypopituitarism, Microphthalmia	ORPHA:391474
Trichothiodystrophy	Gonadal dysgenesis, Bilateral microphthalmos, Anemia, Increased mean corpuscular hemoglobin conce...	ORPHA:33364
Marburg Hemorrhagic Fever	Jaundice, Pancreatitis, Lymphadenopathy, Neutrophilia in presence of infection, Abnormal lymphocy...	ORPHA:99826
Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	ORPHA:2717
3Q29 Microduplication Syndrome	Microphthalmia, Aniridia	ORPHA:251038
Focal Dermal Hypoplasia	Microphthalmia, Ureteral duplication, Aniridia, Anophthalmia, Labial hypoplasia, Hypoplastic nipp...	OMIM:305600
Holoprosencephaly 9	Decreased response to growth hormone stimulation test, Microphthalmia, Anterior pituitary agenesi...	OMIM:610829
Ectodermal Dysplasia-Blindness Syndrome	Microphthalmia	ORPHA:1806
Basal Cell Nevus Syndrome 1	Ovarian fibroma, Ovarian carcinoma, Microphthalmia	OMIM:109400
Branchiooculofacial Syndrome	Microphthalmia, Hypospadias, Anophthalmia, Duplication of internal organs, Renal cyst, Renal agen...	OMIM:113620
Proteasome-Associated Autoinflammatory Syndrome 1	Hepatomegaly, Lymphadenopathy, Parotitis, Thrombocytopenia, Splenomegaly, Epididymitis, Cardiomeg...	OMIM:256040
Oculodentodigital Dysplasia, Autosomal Recessive	Microphthalmia	OMIM:257850
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Absent gallbladder, Microphthalmia, Renal hypoplasia/aplasia, Abnormal localization of kidney	ORPHA:3186
Mycophenolate Mofetil Embryopathy	Microphthalmia, Ectopic kidney	ORPHA:268249
Acromesomelic Dysplasia 3	Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Elevated circulating fo...	OMIM:609441
Autosomal Dominant Kenny-Caffey Syndrome	Decreased testicular size, Bilateral microphthalmos, Anemia, Congenital hypoparathyroidism	ORPHA:93325
Linear Skin Defects With Multiple Congenital Anomalies 3	Thyroid C cell hyperplasia, Microphthalmia	OMIM:300952
Microphthalmia, Syndromic 2	Microphthalmia, Hypospadias, Anophthalmia, Phthisis bulbi, Septate vagina, Cryptorchidism	OMIM:300166
Phace Association	Optic nerve hypoplasia, Microphthalmia, Lingual thyroid	OMIM:606519
Incontinentia Pigmenti	Eosinophilia, Microphthalmia, Supernumerary nipple	ORPHA:464
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Microphthalmia	ORPHA:1352
Kenny-Caffey Syndrome, Type 2	Microphthalmia, Hypoparathyroidism, Anemia	OMIM:127000
Norrie Disease	Buphthalmos, Microphthalmia, Hypoplasia of the iris	OMIM:310600
Mend Syndrome	Microphthalmia, Cryptorchidism	ORPHA:401973
Atelis Syndrome 2	Thrombocytopenia, Microphthalmia, Anemia	OMIM:620185
Limb-Mammary Syndrome	Breast aplasia, Aplasia of the uterus, Hypoplastic nipples, Absent nipple, Bilateral breast hypop...	ORPHA:69085
Cherubism	Submandibular lymph node enlargement	OMIM:118400
Fontaine Progeroid Syndrome	Microphthalmia, Hypoplastic nipples, Absent nipple, Left ventricular hypertrophy, Small scrotum, ...	OMIM:612289
Autosomal Recessive Malignant Osteopetrosis	Lymphadenopathy, Hepatomegaly, Anemia, Splenomegaly	ORPHA:667
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Bifid uterus, Abnormal reproductive system morphology, Supernumerary nipple	ORPHA:1521
Nance-Horan Syndrome	Microphthalmia	OMIM:302350
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Microphthalmia, Supernumerary nipple	ORPHA:1236
Persistent Hyperplastic Primary Vitreous	Phthisis bulbi, Microphthalmia, Buphthalmos, Macular hypoplasia	ORPHA:91495
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Microphthalmia	OMIM:253800
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Microphthalmia, Increased hepatic echogenicity	OMIM:608940
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Buphthalmos, Microphthalmia	OMIM:613150
Aicardi Syndrome	Hepatoblastoma, Microphthalmia, Precocious puberty	ORPHA:50
Microcephaly-Micromelia Syndrome	Microphthalmia	OMIM:251230
Coffin-Siris Syndrome 1	Clitoral hypertrophy, Hydroureter, Ectopic kidney, Hypospadias, Aplasia of the uterus, Renal hypo...	OMIM:135900
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Microphthalmia, Urinary incontinence, Hypospadias, Multicystic kidney dysplasia, Pelvic kidney, V...	ORPHA:261537
Microphthalmia, Syndromic 6	Microphthalmia, Anterior hypopituitarism, Anophthalmia, Female hypogonadism, Renal hypoplasia, Sm...	OMIM:607932
Oculopalatocerebral Syndrome	Microphthalmia	OMIM:257910
Cushing Syndrome Due To Ectopic Acth Secretion	Abnormal lymph node morphology, Pancreatic adenocarcinoma, Decreased eosinophil count, Pheochromo...	ORPHA:99889
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Microphthalmia	OMIM:618727
Neu-Laxova Syndrome 1	Renal agenesis, Microphthalmia, Bifid uterus, Cryptorchidism	OMIM:256520
Premature Aging Syndrome, Penttinen Type	Microphthalmia	OMIM:601812
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Phthisis bulbi, Microphthalmia, Buphthalmos	OMIM:221900
Mowat-Wilson Syndrome	Abnormality of the kidney, Microphthalmia, Urinary incontinence, Hypospadias, Multicystic kidney ...	ORPHA:2152
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Optic nerve hypoplasia, Microphthalmia	OMIM:614643
Aicardi Syndrome	Hepatoblastoma, Microphthalmia, Precocious puberty	OMIM:304050
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Clitoral hypertrophy, Hypoplasia of the uterus, Hypospadias, Vesicovaginal fistula, Labial hypopl...	OMIM:201750
Myhre Syndrome	Microphthalmia, Cryptorchidism	OMIM:139210
Leptospirosis	Acute kidney injury, Jaundice, Hepatomegaly, Lymphadenopathy, Cellular urinary casts, Thrombocyto...	ORPHA:509
Ehlers-Danlos Syndrome, Vascular Type	Anemia, Cervical insufficiency, Cryptorchidism, Uterine prolapse, Cystocele, Uterine rupture	OMIM:130050
Oculodentodigital Dysplasia	Neurogenic bladder, Microphthalmia	OMIM:164200
Adenocarcinoma Of The Anal Canal	Neoplasm of the liver, Lymphadenopathy	ORPHA:424016
Oculoauricular Syndrome	Microphakia, Phthisis bulbi, Microphthalmia, Macular hypoplasia	OMIM:612109
Xeroderma Pigmentosum, Complementation Group D	Microphthalmia	OMIM:278730
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Microphthalmia, Urinary incontinence, Hypospadias, Multicystic kidney dysplasia, Pelvic kidney, V...	ORPHA:261552
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Microphthalmia	ORPHA:85167
Momo Syndrome	Bilateral microphthalmos	ORPHA:2563
Linear Nevus Sebaceus Syndrome	Adenoma sebaceum, Microphthalmia	ORPHA:2612
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Microphthalmia	ORPHA:364577
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Microphthalmia, Leukemia, Anophthalmia	ORPHA:2526
Norrie Disease	Microphthalmia, Aplasia/Hypoplasia of the lens, Hypoplasia of the iris, Cryptorchidism, Uterine r...	ORPHA:649
African Trypanosomiasis	Jaundice, Hepatomegaly, Lymphadenopathy, Urinary incontinence, Abnormal prolactin level, Hepatosp...	ORPHA:3385
Adams-Oliver Syndrome 1	Microphthalmia, Imperforate hymen, Supernumerary nipple	OMIM:100300
Curry-Jones Syndrome	Microphthalmia	OMIM:601707
Traboulsi Syndrome	Microphthalmia, Homocystinuria	OMIM:601552
Chikungunya	Cervical lymphadenopathy, Lymphadenopathy	ORPHA:324625
Lymphedema-Distichiasis Syndrome	Microphthalmia	OMIM:153400
Phace Syndrome	Optic nerve hypoplasia, Microphthalmia, Ectopic thyroid, Lens coloboma	ORPHA:42775
Witteveen-Kolk Syndrome	Decreased response to growth hormone stimulation test, Microphthalmia, Hypospadias, Phimosis, Mic...	OMIM:613406
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Hypospadias, Anteriorly displaced genitalia, Aplasia of the uterus, Hypoplastic nipples, Small sc...	OMIM:276820
Mowat-Wilson Syndrome	Abnormality of the kidney, Microphthalmia, Hypospadias, Bifid scrotum, Cryptorchidism, Supernumer...	OMIM:235730
Peters Plus Syndrome	Ureteral duplication, Hypoplasia of the uterus, Hypospadias, Anterior hypopituitarism, Renal hypo...	ORPHA:709
Treacher Collins Syndrome 1	Bilateral microphthalmos, Abnormal parotid gland morphology, Cryptorchidism	OMIM:154500
8Q24.3 Microdeletion Syndrome	Abnormality of the kidney, Bilateral microphthalmos, Unilateral renal agenesis, Pelvic kidney, Op...	ORPHA:508488
Holoprosencephaly 7	Bilateral microphthalmos, Microphthalmia, Panhypopituitarism	OMIM:610828
Acrofrontofacionasal Dysostosis 1	Microphthalmia	OMIM:201180
Holoprosencephaly 1	Microphthalmia, Micropenis	OMIM:236100
Peters-Plus Syndrome	Bilobate gallbladder, Ureteral duplication, Hypospadias, Clitoral hypoplasia, Biliary tract abnor...	OMIM:261540
Oculo-Palato-Cerebral Syndrome	Microphthalmia	ORPHA:2714
Microphthalmia, Syndromic 1	Microphthalmia, Renal hypoplasia/aplasia, Hydroureter, Hypospadias, Anophthalmia, Renal hypoplasi...	OMIM:309800
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Lacrimal gland aplasia, Lacrimal gland hypoplasia, Hypergonadotropic hypogonadism, Elevated circu...	ORPHA:572333
Isolated Arrhinia	Microphthalmia	ORPHA:1134
Osteoporosis-Pseudoglioma Syndrome	Phthisis bulbi, Microphthalmia	OMIM:259770
Vascular Ehlers-Danlos Syndrome	Hypospadias, Uterine rupture, Renovascular hypertension, Uterine prolapse, Bladder diverticulum, ...	ORPHA:286
Pallister-Killian Syndrome	Aplasia of the upper vagina, Hypospadias, Labial hypoplasia, Aplasia of the uterus, Renal dysplas...	OMIM:601803
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Microphthalmia	OMIM:608670
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Buphthalmos, Microphthalmia, Hypoplasia of the retina	OMIM:253280
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Microphthalmia	OMIM:612474
Loeys-Dietz Syndrome	Uterine rupture	ORPHA:60030
Monosomy 13Q14	Microphthalmia	ORPHA:1587
Frontofacionasal Dysplasia	Microphthalmia	OMIM:229400
Neuroocular Syndrome	Microphthalmia, Hypoplasia of the fovea, Lens coloboma	OMIM:619539
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Microphthalmia	ORPHA:306542
Craniofacial Microsomia 1	Microphthalmia, Ectopic kidney, Anophthalmia, Vesicoureteral reflux, Renal agenesis, Ureteropelvi...	OMIM:164210
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Microphthalmia, Hemolytic anemia, Hypoplasia of the iris	OMIM:175780
Holoprosencephaly 2	Microphthalmia, Anterior pituitary agenesis	OMIM:157170

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 Pdk2

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 Pdk2.

No publications found that use IMPC mice or data for Pdk2.

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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
Pdk2^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Pdk2^em1(IMPC)Mbp	Exon Deletion	Mice, Tissue

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Pdk2 MGI:1343087

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

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X-ray

Human diseases caused by Pdk2 mutations

Histopathology

IMPC related publications

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Access Data Release 21.0 Data