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Gene: Asb7 MGI:2152835

Gene Summary

Name:

ankyrin repeat and SOCS box-containing 7

Synonyms:

Asb-7, D030055C23Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
enlarged uterus	Asb7^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal spleen morphology	Asb7^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
increased circulating alkaline phosphatase level	Asb7^{em1(IMPC)Ccpcz}	HOM	Early adult	1.20×10^-07
increased fasting circulating glucose level	Asb7^{em1(IMPC)Ccpcz}	HOM	Early adult	4.25×10^-15
abnormal eye morphology	Asb7^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
decreased CD8-positive, alpha-beta T cell number	Asb7^{em1(IMPC)Ccpcz}	HOM	Early adult	7.21×10^-06
increased cardiac muscle contractility	Asb7^{em1(IMPC)Ccpcz}	HOM	Early adult	4.74×10^-05
decreased grip strength	Asb7^{em1(IMPC)Ccpcz}	HOM	Early adult	4.99×10^-05
dilated aorta	Asb7^{em1(IMPC)Ccpcz}	HOM	Early adult	3.57×10^-06
enlarged heart	Asb7^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
decreased exploration in new environment	Asb7^{em1(IMPC)Ccpcz}	HOM	Early adult	4.37×10^-09
decreased locomotor activity	Asb7^{em1(IMPC)Ccpcz}	HOM	Early adult	5.57×10^-05
enlarged spleen	Asb7^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
increased kidney weight	Asb7^{em1(IMPC)Ccpcz}	HOM	Early adult	2.11×10^-05
abnormal skin morphology	Asb7^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal uterus morphology	Asb7^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
anophthalmia	Asb7^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal heart morphology	Asb7^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
decreased lymphocyte cell number	Asb7^{em1(IMPC)Ccpcz}	HOM	Early adult	7.96×10^-05
decreased leukocyte cell number	Asb7^{em1(IMPC)Ccpcz}	HOM	Early adult	9.41×10^-06

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Human diseases caused by Asb7 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 Asb7 (0 diseases)
Human diseases predicted to be associated with Asb7 (931 diseases)

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

The table below shows human diseases predicted to be associated to Asb7 by phenotypic similarity.

Disease	Matching phenotypes	Source
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Ataxia, Splenomegaly, Dementia, Gait disturbance	ORPHA:2274
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen...	OMIM:615285
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Foam cells, Elevated proportion o...	OMIM:619802
Immunodeficiency 48	Absence of CD8-positive T cells, Hepatomegaly, Splenomegaly	OMIM:269840
Microphthalmia, Syndromic 9	Anophthalmia, Pulmonary artery atresia, Atrial septal defect, Pelvic kidney, Single ventricle, Cr...	OMIM:601186
Polycystic Kidney Disease 5	Stage 5 chronic kidney disease, Hepatosplenomegaly, Hypertension, Polycystic kidney dysplasia, Re...	OMIM:617610
Hepatorenocardiac Degenerative Fibrosis	Portal hypertension, Hypersplenism, Jaundice, Renal cyst, Hepatosplenomegaly, Tubular luminal dil...	OMIM:619902
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Abnormality of the tonsils, Secundum atrial septal defect, Decreased proportion of CD8-positive T...	OMIM:611926
Microphthalmia, Syndromic 12	Anophthalmia, Ventricular septal defect, Cryptorchidism, Hypoplastic left atrium, Bicornuate uter...	OMIM:615524
Fetal Cytomegalovirus Syndrome	Splenomegaly, Hepatomegaly, Anemia	ORPHA:294
Immunodeficiency 15A	Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells...	OMIM:618204
Immunodeficiency 18	Decreased proportion of CD3-positive T cells, Lymphopenia	OMIM:615615
Hydatidiform Mole	Enlarged uterus, Anemia	ORPHA:99927
Cardiomyopathy, Dilated, 1I	Reduced systolic function, Elevated circulating creatine kinase concentration, Cardiomegaly, Cong...	OMIM:604765
Meckel Syndrome, Type 8	Anophthalmia, Pericardial effusion, Polycystic kidney dysplasia, Ambiguous genitalia, Microphthal...	OMIM:613885
Nephronophthisis 16	Renal insufficiency, Situs inversus totalis, Patent ductus arteriosus, Stage 5 chronic kidney dis...	OMIM:615382
Familial Aortic Dissection	Aortic regurgitation, Cardiomegaly, Descending thoracic aorta aneurysm, Patent ductus arteriosus,...	ORPHA:229
Sandhoff Disease	Hepatomegaly, Ataxia, Splenomegaly, Congestive heart failure, Progressive psychomotor deteriorati...	ORPHA:796
Ethanolaminosis	Cardiomegaly	OMIM:227150
Matthew-Wood Syndrome	Anophthalmia, Cryptorchidism, Renal hypoplasia, Aplasia/Hypoplasia of the pancreas, Horseshoe kid...	ORPHA:2470
Combined Immunodeficiency, X-Linked	Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells	OMIM:312863
Immunodeficiency, Common Variable, 6	Hepatomegaly, Glomerulonephritis, Autoimmune thrombocytopenia, Stage 5 chronic kidney disease, Me...	OMIM:613496
Trimethylaminuria	Tachycardia, Trimethylaminuria, Splenomegaly, Depression, Hypertension, Neutropenia, Anemia	OMIM:602079
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Hepatosp...	ORPHA:169154
Meacham Syndrome	Bicuspid aortic valve, Blind vagina, Scimitar anomaly, Atrial septal defect, Accessory spleen, Se...	OMIM:608978
Immunodeficiency 24	Lymphopenia, Decreased proportion of memory B cells, Decreased CD4:CD8 ratio, Reduced proportion ...	OMIM:615897
Trisomy 13	Anophthalmia, Ventricular septal defect, Displacement of the urethral meatus, Cryptorchidism, Pat...	ORPHA:3378
Aortic Aneurysm, Familial Thoracic 4	Aortic regurgitation, Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebr...	OMIM:132900
Congenitally Uncorrected Transposition Of The Great Arteries	Abnormal coronary artery morphology, Cardiac shunt, Maternal diabetes, Cardiomegaly, Abnormal aor...	ORPHA:860
Hemochromatosis, Type 2A	Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Increased circulating ferritin concent...	OMIM:602390
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit...	ORPHA:444463
Niemann-Pick Disease, Type B	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Foam cells with lame...	OMIM:607616
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Proteinuria, Focal segmental glomerulosclerosis, Thrombocytopenia, Splenomegaly, In...	OMIM:617303
Hemochromatosis, Type 1	Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Cardiomegaly, Increased circulati...	OMIM:235200
Amed Syndrome, Digenic	Acute myeloid leukemia, Anemia, Leukopenia, Hypoplasia of the uterus, Bone marrow hypocellularity...	OMIM:619151
Transaldolase Deficiency	Abnormality of the kidney, Thrombocytopenia, Hepatosplenomegaly, Biventricular hypertrophy, Telan...	ORPHA:101028
Congenital Heart Defects, Multiple Types, 2	Aortic regurgitation, Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Cong...	OMIM:614980
Congenital Toxoplasmosis	Hepatomegaly, Cardiomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Cognitive impairment, Mi...	ORPHA:858
Wiskott-Aldrich Syndrome 2	Decreased proportion of CD8-positive T cells, Thrombocytopenia	OMIM:614493
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion	OMIM:183350
Combined Immunodeficiency Due To Zap70 Deficiency	Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T...	ORPHA:911
Fixed Subaortic Stenosis	Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri...	ORPHA:3092
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Confusio...	OMIM:212140
Hemochromatosis, Type 2B	Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin sa...	OMIM:613313
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Ureteral duplication, Elevated circulating creatine kinase concentration, Cardiomegaly, Macrovesi...	OMIM:608836
Uterine Anomalies	Bicornuate uterus, Abnormality of the uterus	OMIM:192000
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Takayasu Arteritis	Abnormal endocardium morphology, Hypertensive crisis, Abnormal heart valve morphology, Myocardial...	ORPHA:3287
Infantile Sialic Acid Storage Disease	Hepatomegaly, Cardiomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Congestive heart failure...	OMIM:269920
Neuraminidase Deficiency	Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Proteinuria, Bone-marrow foam cel...	OMIM:256550
Immunodeficiency 104	Splenomegaly, Hepatomegaly, T lymphocytopenia, Lymphadenopathy	OMIM:608971
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated cardiomyo...	OMIM:600649
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Truncus arteriosus, Malformation of the hepatic ductal plate, Asplenia, Situs inver...	OMIM:615415
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells...	OMIM:617241
Cd8 Deficiency, Familial	Absence of CD8-positive T cells	OMIM:608957
Hypereosinophilic Syndrome, Idiopathic	Hepatomegaly, Eosinophilia, Splenomegaly, Endocardial fibrosis, Myeloproliferative disorder, Rest...	OMIM:607685
Autosomal Dominant Polycystic Kidney Disease	Renal cyst, Abnormal systemic arterial morphology, Decreased glomerular filtration rate, Elevated...	ORPHA:730
Aa Amyloidosis	Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Cholestasis, Abnorm...	ORPHA:85445
Renal-Hepatic-Pancreatic Dysplasia 1	Asplenia, Hepatic fibrosis, Atrial septal defect, Hepatomegaly, Malformation of the hepatic ducta...	OMIM:208540
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Situs inversus totalis, Elevated circulating c...	OMIM:602088
Microphthalmia, Isolated, With Coloboma 10	Microphthalmia, Anophthalmia	OMIM:616428
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase...	OMIM:617514
Cardiac-Urogenital Syndrome	Bifid scrotum, Patent urachus, Scimitar anomaly, Atrial septal defect, Micropenis, Mesocardia, Pe...	OMIM:618280
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Renal insufficiency, Thrombocytopenia, Splenomegaly, Hyperammonemia, Choreoathetosi...	ORPHA:79312
Aortic Aneurysm, Familial Thoracic 6	Thoracic aortic aneurysm, Descending aortic dissection, Premature coronary artery atherosclerosis...	OMIM:611788
Microphthalmia, Isolated, With Coloboma 5	Microphthalmia, Anophthalmia, Bilateral microphthalmos	OMIM:611638
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly...	OMIM:615559
Heterotaxy, Visceral, 1, X-Linked	Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arteries, Atrial septal...	OMIM:306955
Glut1 Deficiency Syndrome 2	Hemolytic anemia, Reticulocytosis, Ataxia, Splenomegaly, Choreoathetosis, Irritability, Reduced h...	OMIM:612126
Immunodeficiency 8 With Lymphoproliferation	Lymphopenia, Attention deficit hyperactivity disorder	OMIM:615401
Gaucher Disease, Type Iii	Hepatomegaly, Pancytopenia, Ataxia, Progressive neurologic deterioration, Splenomegaly, Depressio...	OMIM:231000
Distal 7Q11.23 Microduplication Syndrome	Cryptorchidism, Patent ductus arteriosus, Attention deficit hyperactivity disorder, Aortic aneurysm	ORPHA:261102
Ataxia-Telangiectasia	Diabetes mellitus, Ataxia, Telangiectasia of the skin, Abnormal testis morphology, Polycystic ova...	ORPHA:100
Coproporphyria, Hereditary	Hepatomegaly, Tachycardia, Confusion, Splenomegaly, Jaundice, Depression, Increased urinary porph...	OMIM:121300
Igg4-Related Aortitis	Thoracic aortic aneurysm, Elevated circulating C-reactive protein concentration, Hypereosinophili...	ORPHA:449400
Attrv122I Amyloidosis	Abnormal EKG, Increased circulating NT-proBNP concentration, Angina pectoris, Abnormal atrioventr...	ORPHA:85451
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin concentration, Thrombocytopeni...	OMIM:603552
Progressive Multifocal Leukoencephalopathy	Decreased proportion of CD8-positive T cells, Dysmetria, Gait ataxia, Cognitive impairment, Menta...	ORPHA:217260
Reni Syndrome	Diffuse mesangial sclerosis, Hypertriglyceridemia, Ataxia, Hypoglycemia, Proteinuria, Mesangial h...	OMIM:617575
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Leukopenia, Hypoalbuminemia, Atrial septal defect, Patent foramen ovale, Tricuspid regurgitation,...	ORPHA:505248
Immunodeficiency 76	Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia	OMIM:619164
Kaposiform Lymphangiomatosis	Epidural hemorrhage, Epistaxis, Pancreatic cysts, Splenomegaly, Pericardial effusion, Abnormality...	ORPHA:464329
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote...	ORPHA:158057
Pseudo-Torch Syndrome 3	Proteinuria, Cerebral hemorrhage, Cardiomegaly, Increased circulating ferritin concentration, Leu...	OMIM:618886
Hemochromatosis, Type 3	Hypogonadotropic hypogonadism, Increased circulating ferritin concentration, Elevated transferrin...	OMIM:604250
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Absence of lymph node g...	OMIM:619924
Mitochondrial Complex I Deficiency, Nuclear Type 39	Hypospadias, Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septa...	OMIM:620135
Glycogen Storage Disease Ib	Hepatomegaly, Pancreatic fibrosis, Hypoglycemia, Proteinuria, Hepatocellular carcinoma, Decreased...	OMIM:232220
Burkitt Lymphoma	Gastrointestinal hemorrhage, Abnormality of the pancreas, Abnormality of the spleen, Abnormal lym...	ORPHA:543
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Hepatomegaly, Recurrent urinary tract infections, Ventricular septal defect, Splenomegaly, Coarct...	OMIM:620210
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Bicuspid aortic valve, Cardiomegaly, Descending thoracic aorta aneurysm, Abnormal left ventricula...	ORPHA:91387
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe...	OMIM:263200
Immunodeficiency 69	Pancytopenia, Splenomegaly, Increased circulating ferritin concentration, Leukocytosis, Hepatospl...	OMIM:618963
Aicardi-Goutieres Syndrome 6	Hemolytic anemia, Hepatomegaly, Splenomegaly, Irritability, Loss of ambulation, Thrombocytopenia	OMIM:615010
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Cholangiocarcinoma, Diabetes mellitus, Hypogonadotropic hypogonadism, Elevated jugu...	ORPHA:465508
Tyrosinemia, Type I	Nephrocalcinosis, Renal Fanconi syndrome, Hypophosphatemic rickets, Hepatomegaly, Ascites, Anemia...	OMIM:276700
Carnitine Palmitoyltransferase I Deficiency	Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Cardiome...	OMIM:255120
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia	ORPHA:46532
Familial Atrial Myxoma	Tricuspid regurgitation, Cardiomegaly, Pulmonic valve myxoma, Jaundice, Cardiac myxoma, Congestiv...	ORPHA:615
Babesiosis	Hemolytic anemia, Hepatomegaly, Renal insufficiency, Confusion, Myocardial infarction, Splenomega...	ORPHA:108
Trisomy 1Q	Multicystic kidney dysplasia, Anophthalmia, Ventricular septal defect, Small scrotum, Cryptorchid...	ORPHA:261344
Endometriosis, Susceptibility To, 1	Endometriosis	OMIM:131200
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Hepatomegaly, Hypertriglyceridemia	OMIM:619175
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Hepatomegaly, Lymphocytosis	OMIM:606445
H Syndrome	Hypertriglyceridemia, Diabetes mellitus, Abnormality of the kidney, Microcytic anemia, Abnormal c...	ORPHA:168569
Sea-Blue Histiocyte Disease	Splenomegaly, Cirrhosis, Sea-blue histiocytosis, Foam cells, Thrombocytopenia	OMIM:269600
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Ataxia, Abnormality of neutrophils, Splenomegaly, U...	ORPHA:2585
Oculocerebrocutaneous Syndrome	Microphthalmia, Anophthalmia, Cryptorchidism	OMIM:164180
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis, Hyperlipoproteinemia	OMIM:118830
Denys-Drash Syndrome	Diffuse mesangial sclerosis, True hermaphroditism, Septate vagina, Gonadal tissue inappropriate f...	OMIM:194080
Cockayne Syndrome Type 2	Hepatomegaly, Anophthalmia, Ataxia, Cryptorchidism, Gait disturbance, Difficulty walking, Male hy...	ORPHA:90322
Immunodeficiency 50	Recurrent urinary tract infections, Lymphopenia, Neutropenia	OMIM:300988
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Nonketotic hypoglycemia, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine kinas...	OMIM:201475
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Enlarged polycystic ovaries, Insulin-resistant diabetes mellitus, Insulin resistance, Polycystic ...	ORPHA:90301
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid	OMIM:206400
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Inability to walk, Anophthalmia	ORPHA:411986
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Decreased serum iron, Hypereosinophilia, Lymphadenopathy, Abnormal proport...	OMIM:212050
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt...	OMIM:615513
Coronary Arterial Fistula	Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Right ventricular dilatation, Abnor...	ORPHA:2041
Beta-Thalassemia	Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Thrombocytop...	ORPHA:848
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated urinary 3-hydroxybutyric acid, Hepatomegaly, Dicarboxylic aciduria, Ataxia, Elevated cir...	ORPHA:42
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Mediastinal lymphadeno...	OMIM:300853
Congenital Rubella Syndrome	Hepatomegaly, Ventricular septal defect, Splenomegaly, Jaundice, Patent ductus arteriosus, Anemia...	ORPHA:290
Microgastria-Limb Reduction Defect Syndrome	Hepatomegaly, Multicystic kidney dysplasia, Anophthalmia, Renal agenesis, Crossed fused renal ect...	ORPHA:2538
Cirrhotic Cardiomyopathy	Increased circulating NT-proBNP concentration, Cardiomegaly, Global systolic dysfunction, Hepatom...	ORPHA:57777
Aortic Aneurysm, Familial Thoracic 7	Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture	OMIM:613780
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hypoglycemic seizures, Nephrocalcinosis, Hepatic steatosis, Tubulointerstitial fibrosis, Hepatome...	ORPHA:79259
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Hyperammonemia, Limb ataxia, Pulm...	OMIM:619051
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Renal agenesis, Ectopic kidney, Azoospermia, Bicornuate uterus, Renal dysplasia, Aplasia/hypoplas...	ORPHA:2578
Cockayne Syndrome Type 1	Hepatomegaly, Renal insufficiency, Anophthalmia, Ataxia, Proteinuria, Cryptorchidism, Hypertensio...	ORPHA:90321
Hemoglobin H Disease	Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Cholestasis, Progressive Familial Intrahepatic, 12	Hepatomegaly, Proteinuria, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Cholestasis, In...	OMIM:620010
Alport Syndrome	Thickening of glomerular capillary wall, Mesangial hypercellularity, Nephritis, Tubulointerstitia...	ORPHA:63
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Hepatomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia...	OMIM:614470
Cardiomyopathy, Familial Restrictive, 3	Myocardial sarcomeric disarray, Abnormal ST segment, Aortic aneurysm, Reduced left ventricular ej...	OMIM:612422
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Hypoplasia of penis, Anophthalmia, Ventricular septal defect, Hypospadias, Cryptorchidism, Patent...	ORPHA:77298
Pparg-Related Familial Partial Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Maternal diabetes, Splenomegaly, Insulin r...	ORPHA:79083
Aortic Aneurysm, Familial Thoracic 9	Atrial fibrillation, Thoracic aortic aneurysm, Mitral valve prolapse, Ascending aortic dissection...	OMIM:616166
Seckel Syndrome 10	Ventricular hypertrophy, Acute pancreatitis, Hypertriglyceridemia, Diabetes mellitus, Elevated he...	OMIM:617253
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ...	ORPHA:75564
Cardiomyopathy, Familial Hypertrophic, 27	Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di...	OMIM:618052
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein ...	OMIM:613011
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentratio...	OMIM:308240
Renal Hypodysplasia/Aplasia 3	Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Abnormality of t...	OMIM:617805
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Acholic stools, Portal fibro...	OMIM:619868
Prune Belly Syndrome	Multicystic kidney dysplasia, Recurrent urinary tract infections, Ventricular septal defect, Rena...	ORPHA:2970
Hyperbilirubinemia, Shunt, Primary	Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Hyperbili...	OMIM:237800
Sickle Cell Disease	Hemolytic anemia, Hepatomegaly, Renal insufficiency, Cardiomegaly, Splenomegaly, Jaundice, Leukoc...	OMIM:603903
Arterial Calcification, Generalized, Of Infancy, 2	Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Coronary artery calcification, Cong...	OMIM:614473
Renal Cysts And Diabetes Syndrome	Renal cyst, Glucose intolerance, Pancreatic hypoplasia, Atretic vas deferens, Hypospadias, Abnorm...	OMIM:137920
Holoprosencephaly	Hyponatremia, Hypoplasia of penis, Anophthalmia, Ventricular septal defect, Abnormal pulmonary va...	ORPHA:2162
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A...	OMIM:601859
Acquired Aneurysmal Subarachnoid Hemorrhage	Myocardial infarction, Cerebral hemorrhage, Progressive neurologic deterioration, Congestive hear...	ORPHA:90065
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia	OMIM:619437
Multisystemic Smooth Muscle Dysfunction Syndrome	Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Hypoperistalsis,...	OMIM:613834
Galactosemia Iii	Hepatomegaly, Splenomegaly, Jaundice, Aminoaciduria, Galactosuria, Hypergalactosemia	OMIM:230350
Aorta Coarctation	Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Congestive heart failure, Pa...	ORPHA:1457
Cardiomyopathy, Familial Hypertrophic, 4	First degree atrioventricular block, Cardiomegaly, Atrioventricular block, Left bundle branch blo...	OMIM:115197
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro...	OMIM:133180
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Waddling gait, Elevated circulating creatine kinase concentration, Left ...	OMIM:300280
Neurooculocardiogenitourinary Syndrome	Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Paten...	OMIM:618652
Periventricular Nodular Heterotopia	Aortic regurgitation, Patent ductus arteriosus, Abnormal heart valve morphology, Aortic aneurysm	ORPHA:98892
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Lymphadenopathy, Neph...	ORPHA:100024
Congenital Disorder Of Glycosylation, Type Iio	Hepatomegaly, Decreased circulating ceruloplasmin concentration, Elevated circulating creatine ki...	OMIM:616828
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Broad-based gait, Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Abnormal re...	ORPHA:477817
Hepatoportal Sclerosis	Gastrointestinal hemorrhage, Portal hypertension, Nodular regenerative hyperplasia of liver, Port...	ORPHA:64743
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Hepatomegaly, Cardiomegaly, Hyperprolinemia, Pulmonary arterial hypertension, Hyperalaninemia, Le...	OMIM:619064
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Ventricular septal defect, Abnormally large globe, Splenomegaly, Pancreatic lymphan...	ORPHA:1655
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Hepatosplenomeg...	OMIM:613101
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Increased circulating ferritin concent...	OMIM:616860
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H...	ORPHA:731
Igg4-Related Kidney Disease	Elevated circulating C-reactive protein concentration, Lymphadenitis, Renal interstitial immunogl...	ORPHA:449395
Progressive Familial Intrahepatic Cholestasis	Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Hypocalcemia, Cognitive impairment	ORPHA:172
Meacham Syndrome	Hypoplasia of penis, Abnormality of the spleen, Conotruncal defect, Abnormal fallopian tube morph...	ORPHA:3097
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Lymphopenia, Hypoplasia of the thymus	OMIM:200900
Glycogen Storage Disease Of Heart, Lethal Congenital	Prolonged QRS complex, Neonatal hypoglycemia, Cardiomegaly, Pericardial effusion, Congestive hear...	OMIM:261740
Aorto-Ventricular Tunnel	Ventricular hypertrophy, Abnormal heart valve morphology, Abnormal coronary artery morphology, Ao...	ORPHA:3400
Aortic Valve Disease 2	Aortic regurgitation, Bicuspid aortic valve, Calcification of the aorta, Aortic tortuosity, Coarc...	OMIM:614823
Mass Syndrome	Aortic aneurysm, Ascending aortic dissection, Mitral valve prolapse	OMIM:604308
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Increased circulating ferritin co...	ORPHA:766
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Increased serum pyruvate, Macrocytic anemia, Ataxia, Splenomegaly, Hyperprolinemia, Cardiomyopath...	OMIM:619046
Familial Partial Lipodystrophy, Dunnigan Type	Hepatomegaly, Glomerulopathy, Hypertriglyceridemia, Diabetes mellitus, Splenomegaly, Insulin resi...	ORPHA:2348
Temtamy Syndrome	Microphthalmia, Aortic aneurysm	ORPHA:1777
Rudiger Syndrome	Ovarian cyst, Micropenis, Bicornuate uterus, Ureterovesical stenosis	OMIM:268650
Microcephaly 20, Primary, Autosomal Recessive	Optic nerve hypoplasia, Renal hypoplasia, Ureteral agenesis, Hypoplasia of the uterus, Bilateral ...	OMIM:617914
Transaldolase Deficiency	Hepatomegaly, Pancytopenia, Clitoral hypertrophy, Ventricular septal defect, Thrombocytopenia, Mi...	OMIM:606003
Immunodeficiency 21	Aplastic anemia, B lymphocytopenia, Cervical intraepithelial neoplasia, Neutropenia, Monocytopeni...	OMIM:614172
Aortic Aneurysm, Familial Thoracic 8	Coronary artery dissection, Descending aortic dissection, Coronary artery aneurysm, Ascending aor...	OMIM:615436
Paternal Uniparental Disomy Of Chromosome 1	Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Macroscopic hematuria, Prog...	ORPHA:251004
Splenoportal Vascular Anomalies	Diabetes mellitus, Anomalous splenoportal venous system, Splenomegaly, Hyperammonemia, Hepatic fi...	OMIM:271500
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia	ORPHA:231393
Autoimmune Lymphoproliferative Syndrome, Type Iia	Gastrointestinal hemorrhage, Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lym...	OMIM:603909
Sneddon Syndrome	Bicuspid aortic valve, Cerebral hemorrhage, Hypertension, Ischemic stroke, Stroke, Mental deterio...	OMIM:182410
Timothy Syndrome	Prolonged QT interval, Ventricular septal defect, Hypoglycemia, Cardiomegaly, Patent ductus arter...	OMIM:601005
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Progressive neurologic deterioration, Cardiomegaly, Heparan sulfate excretion in ur...	OMIM:252920
Immunodeficiency 16	Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia	OMIM:615593
Aortic Aneurysm, Familial Thoracic 10	Aortic arch aneurysm, Bicuspid aortic valve, Thoracic aortic aneurysm, Fusiform ascending tubular...	OMIM:617168
Meckel Syndrome	Accessory spleen, Ureteral duplication, Multicystic kidney dysplasia, Anophthalmia, Pancreatic fi...	ORPHA:564
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Ataxia...	OMIM:267700
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis, Glomerulonephritis	OMIM:247800
Reticular Dysgenesis	Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus	OMIM:267500
Lipodystrophy, Congenital Generalized, Type 3	Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Splenomegaly, Insulin resistance, Hepatosp...	OMIM:612526
Niemann-Pick Disease, Type A	Hepatomegaly, Foam cells with lamellar inclusion bodies, Bone-marrow foam cells, Microcytic anemi...	OMIM:257200
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Pericardial eff...	OMIM:619313
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Elevated circulating C-reactive protein concentration, Diffuse alveolar hemorrhage,...	OMIM:616050
Glycogen Storage Disease Ii	Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Increased circulating NT-proB...	OMIM:232300
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Aplastic anemia, Increased circulating ferritin...	OMIM:300635
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Generalized lymphadenopathy, Hypertriglyceridemia, Splenomegaly, Absent circulating...	OMIM:620282
Tangier Disease	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:205400
Glycogen Storage Disease Ia	Hepatomegaly, Hypoglycemia, Proteinuria, Decreased glomerular filtration rate, Hyperlipidemia, Ne...	OMIM:232200
Congenital Aortic Valve Stenosis	Angina pectoris, Thoracic aortic aneurysm, Sudden cardiac death, Aortic valve calcification, Aort...	ORPHA:3093
Combined Oxidative Phosphorylation Deficiency 10	Hypoglycemia, Cardiomegaly, Pericardial effusion, Hyperammonemia, Bradycardia, Hyperalaninemia, H...	OMIM:614702
Amyloidosis, Familial Visceral	Hepatomegaly, Proteinuria, Splenomegaly, Cholestasis, Hematuria, Nephrotic syndrome, Hypertension...	OMIM:105200
Hydrolethalus	Cryptorchidism, Microphthalmia, Anophthalmia, Abnormal fallopian tube morphology	ORPHA:2189
Diabetic Embryopathy	Ureteral duplication, Ventricular septal defect, Renal hypoplasia/aplasia, Abnormality of the pan...	ORPHA:1926
Combined Oxidative Phosphorylation Deficiency 41	Hypoglycemia, Elevated circulating creatine kinase concentration, Anemia, Cardiomegaly	OMIM:618838
Giant Cell Arteritis	Pericarditis, Renal insufficiency, Ataxia, Epistaxis, Sudden cardiac death, Mediastinal lymphaden...	ORPHA:397
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Sple...	OMIM:615234
Combined Oxidative Phosphorylation Deficiency 8	Congestive heart failure, Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction...	OMIM:614096
Hypertriglyceridemia, Transient Infantile	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis, Hepatic steatosis	OMIM:614480
Attrv30M Amyloidosis	Cardiomegaly, Atrioventricular block, Cardiomyopathy, Nephropathy, Arrhythmia, Abnormal renal phy...	ORPHA:85447
Polycythemia Vera	Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi...	OMIM:263300
Fryns Microphthalmia Syndrome	Microphthalmia, Anophthalmia	OMIM:600776
Schnitzler Syndrome	Hepatomegaly, Splenomegaly, Leukocytosis, Vasculitis, Lymphadenopathy, Anemia	ORPHA:37748
Histiocytosis-Lymphadenopathy Plus Syndrome	Cardiomegaly, Atrial septal defect, Micropenis, Pancreatic hypoplasia, Hepatomegaly, Patent ductu...	OMIM:602782
Immunodeficiency 27A	Splenomegaly, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Enlarged mesenteric lymph node, ...	OMIM:209950
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Hypoplasia of penis, Hypospadias, Renal hypoplasia/aplasia, Splenomegaly, Abnormality of the uret...	ORPHA:1046
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Ventricular septal defect, Dextrocardia, Thoracic aortic aneurysm, Asplenia, Patent ductus arteri...	OMIM:619657
Truncus Arteriosus	Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort...	ORPHA:3384
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Bicuspid aortic valve, Parachute mitral valve, Asplenia, Atrial septal defect, Atrioventricular c...	OMIM:265380
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	T lymphocytopenia, Decreased helper T cell proportion	OMIM:601705
Moyamoya Disease 5	Ascending tubular aorta aneurysm, Moyamoya phenomenon	OMIM:614042
Noonan Syndrome 12	Ventricular septal defect, Tetralogy of Fallot, Lymphopenia, Thrombocytopenia, Supravalvular aort...	OMIM:618624
Aortic Aneurysm, Familial Abdominal, 1	Abdominal aortic aneurysm	OMIM:100070
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery...	OMIM:603902
X-Linked Sideroblastic Anemia	Anemia, Splenomegaly, Glucose intolerance, Abnormality of iron homeostasis	ORPHA:75563
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ...	ORPHA:846
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Elevated circulating creatine kinase concentration, Cardiomegaly, Heart block, Red-brown urine, T...	ORPHA:228308
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Diabetes mellitus, Angina pectoris, Elevated circulating creatine kinase concentrat...	ORPHA:565612
Heterotaxy, Visceral, 5, Autosomal	Atrial reentry tachycardia, Ureteral duplication, Asplenia, Dextrotransposition of the great arte...	OMIM:270100
Cholesteryl Ester Storage Disease	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Arteriosclerosis, Cirrhosis, Hypercho...	ORPHA:75234
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Streak ovary, Abnormality of female external genitalia, Testicular dysgenesis, Hypoplasia of the ...	ORPHA:168563
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis, Hyperbilirubinemia, Intermittent jaundice	OMIM:179700
Leprechaunism	Hepatomegaly, Enlarged ovaries, Clitoral hypertrophy, Overgrowth of external genitalia, Insulin r...	ORPHA:508
Immunodeficiency 102	Hepatomegaly, Autoimmune thrombocytopenia, Nodular regenerative hyperplasia of liver, Neutropenia...	OMIM:301082
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Dextrocardia, Urethral atresia, Transposition of the great arteries, Atrioventricular canal defec...	OMIM:314390
Lipodystrophy, Familial Partial, Type 3	Decreased HDL cholesterol concentration, Prominent superficial veins, Hypertriglyceridemia, Mater...	OMIM:604367
Cholesteryl Ester Storage Disease	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Bone-marrow foam cel...	OMIM:278000
Pagod Syndrome	Multicystic kidney dysplasia, Sudden cardiac death, Renal hypoplasia/aplasia, Situs inversus tota...	ORPHA:991
Alpha-Heavy Chain Disease	Hepatomegaly, Splenomegaly, Lymphadenopathy, Hypocalcemia, Ascites, Anemia	ORPHA:100025
Lipodystrophy, Familial Partial, Type 1	Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Prominent superficial veins, Insulin-resi...	OMIM:608600
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Ataxia, Cardiomegaly, Congestive heart failure, Unsteady gait, Limb ataxia, Gait ataxia, Depressi...	OMIM:619259
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Hypoalbuminemia, Cardiomegaly	ORPHA:88643
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Renal agenesis, Unilateral renal agenesis, Ectopic kidney, Hypoplasia of the uterus, Azoospermia,...	OMIM:601076
Short Stature, Microcephaly, And Endocrine Dysfunction	Abnormal circulating lipid concentration, Broad-based gait, Ataxia, Diabetes mellitus, Unilateral...	OMIM:616541
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, I...	OMIM:150550
Neonatal Lupus Erythematosus	Prolonged QT interval, Hepatomegaly, Hemolytic anemia, Pancytopenia, Aplastic anemia, Heart block...	ORPHA:398124
Congenital Myopathy 8	Congestive heart failure, Cardiomegaly	OMIM:618654
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Hepatomegaly, Decreased proportion of CD8-positive T cells, Inability to walk, Hypereosinophilia,...	ORPHA:508533
Legionnaires Disease	Hyponatremia, Pericarditis, Renal insufficiency, Ataxia, Proteinuria, Splenomegaly, Jaundice, Myo...	ORPHA:549
Beta-Thalassemia Intermedia	Extramedullary hematopoiesis, Abnormality of the liver, Elevated hepatic iron concentration, Eryt...	ORPHA:231222
Pseudotrisomy 13 Syndrome	Ventricular septal defect, Dextrocardia, Renal agenesis, Complete atrioventricular canal defect, ...	OMIM:264480
Leishmaniasis	Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Thrombocytopenia, Splenomegaly, Lymph...	ORPHA:507
Aicardi-Goutières Syndrome	Diabetes mellitus, Neonatal alloimmune thrombocytopenia, Cardiomegaly, Raynaud phenomenon, Calcif...	ORPHA:51
Walker-Warburg Syndrome	Hypoplasia of penis, Anophthalmia, Cryptorchidism, Abnormal circulating creatine kinase concentra...	ORPHA:899
Beckwith-Wiedemann Syndrome	Hepatomegaly, Overgrowth of external genitalia, Neonatal hypoglycemia, Cardiomegaly, Cryptorchidi...	OMIM:130650
Systemic Lupus Erythematosus 17	Autoimmune thrombocytopenia, Raynaud phenomenon, Thrombocytopenia, Leukopenia, Mitral regurgitati...	OMIM:301080
Cardiac Valvular Dysplasia 2	Aortic regurgitation, Increased left ventricular end-diastolic volume, Tricuspid regurgitation, B...	OMIM:620067
Fragile X Syndrome	Macroorchidism, Ascending tubular aorta aneurysm, Attention deficit hyperactivity disorder, Mitra...	ORPHA:908
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To	Descending aortic dissection, Ascending aortic dissection, Aortic aneurysm	OMIM:617349
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Erythroi...	OMIM:613673
Glycogen Storage Disease Ixb	Hepatomegaly, Hypoglycemia, Splenomegaly, Hyperuricemia, Increased hepatic glycogen content	OMIM:261750
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Macroorchidism, Congestive heart failure, Cardiomegaly	OMIM:300886
Gray Platelet Syndrome	Splenomegaly, Epistaxis, Thrombocytopenia	ORPHA:721
Selective Igm Deficiency	Decreased proportion of CD4-positive T cells, Recurrent urinary tract infections, Autoimmune thro...	ORPHA:331235
Danon Disease	Myocardial necrosis, Wolff-Parkinson-White syndrome, Elevated circulating creatine kinase concent...	OMIM:300257
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Pulmonary insufficiency, Absence of lymph node germinal center, T lymphocytopenia, B lymphocytope...	ORPHA:277
Mirage Syndrome	Hyponatremia, Recurrent urinary tract infections, Hypoglycemia, Hypospadias, Hypergonadotropic hy...	OMIM:617053
Cerebrooculonasal Syndrome	Hypoplasia of penis, Anophthalmia	ORPHA:66625
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Cardiomegaly, Ventricular tachycardia, Atrioventricular block, Re...	ORPHA:137675
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Follicular hyperplasia, Autoimmune thromboc...	OMIM:619846
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Renal dysplasia, Renal insufficiency, Diabetes mellitus, Unilateral renal agenesis, Septate vagin...	ORPHA:2237
Charge Syndrome	Anophthalmia, External genital hypoplasia, Secundum atrial septal defect, Hypocalcemia, Atrial se...	OMIM:214800
Omphalocele-Cleft Palate Syndrome, Lethal	Bicornuate uterus	OMIM:258320
Monosomy 18Q	Left-to-right shunt, Absence of the pulmonary valve, Secundum atrial septal defect, Bilateral cry...	ORPHA:1600
Glycogen Storage Disease Due To Acid Maltase Deficiency	Hepatomegaly, Transient ischemic attack, Elevated circulating creatine kinase concentration, Thor...	ORPHA:365
Harderoporphyria	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Increased urine harderoporphyrin level, Increase...	OMIM:618892
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Ataxia, Increased circulating fer...	OMIM:603553
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Nephroblastoma, Enlarged kidney	OMIM:618272
Alg9-Cdg	Hepatomegaly, Hypoplasia of the bladder, Tricuspid regurgitation, Ventricular septal defect, Uret...	ORPHA:79328
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Tyrosinemia Type 1	Splenomegaly, Hepatomegaly, Generalized aminoaciduria, Hepatocellular carcinoma	ORPHA:882
Congenital Disorder Of Glycosylation, Type It	Hepatomegaly, Tachycardia, Ventricular septal defect, Elevated circulating creatine kinase concen...	OMIM:614921
Microphthalmia With Limb Anomalies	Microphthalmia, Interrupted inferior vena cava with azygous continuation, Anophthalmia, Unilatera...	OMIM:206920
Myopathy With Extrapyramidal Signs	Extremely elevated creatine kinase, Hepatomegaly, Ventricular septal defect, Elevated circulating...	OMIM:615673
Glycogen Storage Disease Ixa1	Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia	OMIM:306000
Fibular Hemimelia	Anophthalmia, Abnormal heart morphology, Difficulty walking, Renal dysplasia, Thrombocytopenia	ORPHA:93323
Complete Atrioventricular Septal Defect	Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ...	ORPHA:1329
Phosphoribosylpyrophosphate Synthetase Superactivity	Renal insufficiency, Ataxia, Cardiomyopathy, Hypertension, Abnormal aortic morphology, Hyperurice...	ORPHA:3222
Necrotizing Enterocolitis	Hyponatremia, Shock, Leukocytosis, Peritonitis, Abnormal heart morphology, Bradycardia, Abnormal ...	ORPHA:391673
Fanconi Anemia	Leukopenia, Abnormality of the liver, Abnormality of the uterus, Atrial septal defect, Hypospadia...	ORPHA:84
Donnai-Barrow Syndrome	Bicornuate uterus, Ventricular septal defect, Abnormality of the uterus, Proteinuria	ORPHA:2143
Familial Cold Autoinflammatory Syndrome 2	Splenomegaly, Leukocytosis, Elevated circulating C-reactive protein concentration, Lymphadenopathy	OMIM:611762
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties	Urinary incontinence, Pericardial effusion, Multiple muscular ventricular septal defects, Atrial ...	OMIM:620070
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy	OMIM:618852
Transcobalamin Deficiency	Pancytopenia, Methylmalonic aciduria, Neutropenia, Lymphopenia, Acute kidney injury, Thrombocytop...	ORPHA:859
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Genital ulcers, S...	OMIM:602450
Arterial Calcification, Generalized, Of Infancy, 1	Myocardial infarction, Cardiomegaly, Coronary artery calcification, Congestive heart failure, Car...	OMIM:208000
Wiskott-Aldrich Syndrome	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m...	OMIM:301000
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Secundum atrial septal defect, Leukopenia, Hypoplasia of the thymus, Neutropenia, Hepatomegaly, P...	OMIM:612541
Gillessen-Kaesbach-Nishimura Syndrome	Periportal fibrosis, Bicornuate uterus, Polycystic kidney dysplasia, Abnormal heart morphology	OMIM:263210
Fish-Eye Disease	Decreased HDL cholesterol concentration, Hepatomegaly, Angina pectoris, Splenomegaly, Lymphadenop...	ORPHA:79292
Bile Acid Synthesis Defect, Congenital, 5	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi...	OMIM:616278
Mosaic Trisomy 9	Hypoplasia of penis, Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Ab...	ORPHA:99776
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Inability to walk, Congestive heart failur...	ORPHA:324410
Ogden Syndrome	Bicuspid aortic valve, Maternal diabetes, Cardiomegaly, Secundum atrial septal defect, Microvesic...	OMIM:300855
B-Cell Expansion With Nfkb And T-Cell Anergy	Splenomegaly, Increased B cell count	OMIM:616452
Phace Association	Anomalous branches of internal carotid artery, Ventricular septal defect, Optic nerve hypoplasia,...	OMIM:606519
Tropical Endomyocardial Fibrosis	Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun...	ORPHA:75565
Hyperparathyroidism, Transient Neonatal	Unilateral renal agenesis, Patent ductus arteriosus, Ovarian cyst, Stroke, Splenic cyst, Enlarged...	OMIM:618188
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Splenomegaly, Jaundice, Cholestasis, Hepatic fibrosis, Hypocalcemia, Hepatic bridging fibrosis, E...	OMIM:619658
Hemihyperplasia-Multiple Lipomatosis Syndrome	Abnormal venous morphology, Telangiectasia of the skin, Abnormal cerebral vascular morphology, Ab...	ORPHA:276280
Double Uterus-Hemivagina-Renal Agenesis Syndrome	Partial vaginal septum, Renal agenesis, Abnormal uterine cervix morphology, Uterus didelphys, Hyd...	ORPHA:3411
Griscelli Syndrome	Hepatomegaly, Ataxia, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Lymphadenopa...	ORPHA:381
Hurler-Scheie Syndrome	Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Splenomegaly, Cardiomy...	ORPHA:93476
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Pancytopenia, Generalized lymphadenopathy, ...	OMIM:618986
Purine Nucleoside Phosphorylase Deficiency	Cerebral vasculitis, Autoimmune hemolytic anemia, Recurrent urinary tract infections, Hypouricemi...	OMIM:613179
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune throm...	OMIM:619375
Temtamy Syndrome	Aortic regurgitation, Microphthalmia, Aortic aneurysm	OMIM:218340
Arterial Tortuosity Syndrome	Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Myocarditis, Congestive heart ...	ORPHA:3342
Beckwith-Wiedemann Syndrome	Ureteral duplication, Cardiomegaly, Vesicoureteral reflux, Hepatoblastoma, Nephropathy, Polycythe...	ORPHA:116
Gaucher Disease, Type Iiic	Hepatomegaly, Pancytopenia, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve ...	OMIM:231005
Anencephaly 2	Anophthalmia	OMIM:619452
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Depression, Emotional lab...	ORPHA:101096
Charge Syndrome	Bifid scrotum, Aortic arch aneurysm, Anophthalmia, Hypogonadotropic hypogonadism, Cryptorchidism,...	ORPHA:138
Rin2 Syndrome	Cryptorchidism, Hypergonadotropic hypogonadism, Cognitive impairment, Aortic aneurysm	ORPHA:217335
Immunodeficiency 32B	Hepatomegaly, Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burs...	OMIM:226990
Kawasaki Disease	Pericarditis, Abnormal heart valve morphology, Proteinuria, Myocarditis, Cervical lymphadenopathy...	ORPHA:2331
Agammaglobulinemia 8B, Autosomal Recessive	Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu...	OMIM:619824
Adams-Oliver Syndrome 6	Tricuspid regurgitation, Ventricular septal defect, Portal hypertension, Splenomegaly, Renal hypo...	OMIM:616589
Hsd10 Disease, Infantile Type	Hypoglycemia, Cardiomegaly, Hyperammonemia, Choreoathetosis, Loss of ambulation, Hypertrophic car...	ORPHA:391428
Osteopetrosis, Autosomal Recessive 8	Hepatomegaly, Splenomegaly, Unilateral microphthalmos, Anemia, Thrombocytopenia	OMIM:615085
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Glomerulopathy, Multicystic kidney dysplasia, Diabetes mellitus, Hypospadias, Renal insufficiency...	ORPHA:93111
Cernunnos-Xlf Deficiency	Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia	ORPHA:169079
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Lymphadenopathy, Acute leuke...	ORPHA:3226
Sandhoff Disease	Hepatomegaly, Orthostatic hypotension, Ataxia, Urinary incontinence, Cardiomegaly, Progressive ps...	OMIM:268800
Adult-Onset Still Disease	Hepatomegaly, Pericarditis, Generalized lymphadenopathy, Neutrophilia, Elevated circulating C-rea...	ORPHA:829
Mulibrey Nanism	Hepatomegaly, Cardiomegaly, Congestive heart failure, Myocardial fibrosis, Pericardial constricti...	OMIM:253250
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Autoimmune hemolytic anemia, Recurrent urinary tract infections, Splenomegaly, Lymp...	OMIM:618495
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Epistaxis, Splenomegaly, Leukocytosis, Hepatosplenome...	OMIM:612840
Autosomal Recessive Multiple Pterygium Syndrome	Hypoplasia of penis, Small scrotum, Cryptorchidism, Absence of labia majora, Abnormal aortic valv...	ORPHA:2990
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Renal insufficiency, Streak ovary, Hypospadias, Cryptorchidism, Abnormality of the uterus, Gonado...	OMIM:194072
Refsum Disease, Classic	Ataxia, Cardiomegaly, Congestive heart failure, Elevated circulating phytanic acid concentration,...	OMIM:266500
Schimke Immuno-Osseous Dysplasia	Neutropenia, Nephropathy, Nephrotic range proteinuria, Minimal change glomerulonephritis, Decreas...	ORPHA:1830
Macrophage Activation Syndrome	Hepatomegaly, Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Increa...	ORPHA:158061
Mcleod Syndrome	Hepatomegaly, Atrial fibrillation, Elevated circulating creatine kinase concentration, Acanthocyt...	OMIM:300842
Gaisböck Syndrome	Myocardial infarction, Nephrocalcinosis, Increased circulating renin level, Cholecystitis, Increa...	ORPHA:90041
Lymphangiectasia, Intestinal	Intestinal lymphangiectasia, Lymphopenia, Neonatal hypoproteinemia	OMIM:152800
Obesity Due To Leptin Receptor Gene Deficiency	Hypertriglyceridemia, Hypergonadotropic hypogonadism, Insulin-resistant diabetes mellitus, Hyperi...	ORPHA:179494
Ornithine Transcarbamylase Deficiency	Splenomegaly, Aminoaciduria, Hypoglycemia, Hyperammonemia	ORPHA:664
Cholestasis-Lymphedema Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Splenomegaly, Hyperlipidemia, Jau...	ORPHA:1414
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Elevated circulating C-reactive protein concentration, Leukopenia, Hepatomegaly, Renal artery ane...	OMIM:615688
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hyperlipidemia, Jaundice, Cirrhosis, N...	OMIM:214900
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis	ORPHA:66661
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia	OMIM:611038
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Proteinuria, Septate vagina, Chronic kidney disease, Thickened glomerular basement membrane, Prox...	OMIM:146255
Mitochondrial Complex I Deficiency, Nuclear Type 36	Hyperalaninemia, Perimembranous ventricular septal defect, Hyperprolinemia, Cardiomegaly	OMIM:619170
Insulin-Resistance Syndrome Type B	Fasting hyperinsulinemia, Leukopenia, Glucose intolerance, Hypoalbuminemia, Fasting hypoglycemia,...	ORPHA:2298
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise...	OMIM:616217
Anemia, Congenital Dyserythropoietic, Type Ib	Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund...	OMIM:615631
Niemann-Pick Disease, Type C1	Hepatomegaly, Ataxia, CNS foam cells, Fetal ascites, Bone-marrow foam cells, Splenomegaly, Gait a...	OMIM:257220
Ehlers-Danlos Syndrome, Classic-Like	Quadricuspid aortic valve, Unilateral renal agenesis, Ambiguous genitalia, female, Mitral valve p...	OMIM:606408
46,Xy Sex Reversal 3	Penoscrotal hypospadias, Hypoplasia of the uterus, Sex reversal, Gonadal dysgenesis, Exaggerated ...	OMIM:612965
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Fryns Syndrome	Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Abnormal aortic arch morphology, Abnor...	ORPHA:2059
Microphthalmia With Linear Skin Defects Syndrome	Abnormal penis morphology, Anophthalmia, Hypospadias, Tricuspid regurgitation, Epispadias, Male p...	ORPHA:2556
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Elevated circulating creatine kinase concentrat...	ORPHA:264580
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Abscess, Perianal abscess, Lymphadenitis, Splenomegaly, Rec...	OMIM:618935
Immunodeficiency 17	Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, T lymphocytopenia, Abn...	OMIM:615607
Craniofaciofrontodigital Syndrome	Gastrointestinal hemorrhage, Persistent fetal circulation, Prominent superficial veins, Anomalous...	ORPHA:363705
Aortic Aneurysm, Familial Thoracic 12	Aortic regurgitation, Bicuspid aortic valve, Ascending tubular aorta aneurysm, Aortic root aneury...	OMIM:619825
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Hypoplasia of the bladder, Peripheral pulmonary artery stenosis, Hydroureter, Bicuspid aortic val...	OMIM:300707
Optic Atrophy 11	Ataxia, Optic nerve hypoplasia, Splenomegaly, Gait apraxia, Dysmetria, Athetosis, Attention defic...	OMIM:617302
Microphthalmia, Syndromic 3	Optic nerve aplasia, Anophthalmia, Ventricular septal defect, Optic nerve hypoplasia, Hypospadias...	OMIM:206900
Joubert Syndrome 21	Anophthalmia, Ataxia, Splenomegaly, Renal cyst, Hyperechogenic kidneys	OMIM:615636
Immunodeficiency, Common Variable, 1	Hepatomegaly, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased propo...	OMIM:607594
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Laubry-Pezzi Syndrome	Aortic regurgitation, Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Ab...	ORPHA:99094
Mucolipidosis Ii Alpha/Beta	Aortic regurgitation, Hepatomegaly, Increased serum beta-hexosaminidase, Cardiomegaly, Splenomega...	OMIM:252500
Immunodeficiency 36 With Lymphoproliferation	Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Increased proportion of transitional ...	OMIM:616005
Griscelli Syndrome Type 2	Hepatomegaly, Pancytopenia, Splenomegaly, Hyperlipidemia, Jaundice, Lymphadenopathy, Hemophagocyt...	ORPHA:79477
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Glomerulonephritis, Cardiomegaly, Diffuse alveolar hemorrhage, Heart murmur, Hepato...	ORPHA:99931
Farber Lipogranulomatosis	Hepatomegaly, Splenomegaly, Lipogranulomatosis, Irritability, Cherry red spot of the macula	OMIM:228000
Microphthalmia, Isolated 8	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia	OMIM:615113
Schimke Immunoosseous Dysplasia	Waddling gait, Pancytopenia, Renal insufficiency, Proteinuria, Transient ischemic attack, Bilater...	OMIM:242900
7Q11.23 Microduplication Syndrome	Ventricular septal defect, Hypospadias, Unilateral renal agenesis, Cryptorchidism, Patent ductus ...	ORPHA:96121
46,Xy Sex Reversal 4	Hypergonadotropic hypogonadism, Elevated circulating creatinine concentration, Agonadism, Hydrone...	OMIM:154230
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome	Aortic regurgitation, Renal insufficiency, Renal agenesis, Mitral atresia, Ectopic kidney, Pulmon...	ORPHA:140952
Congenital Pulmonary Lymphangiectasia	Hepatomegaly, Tricuspid regurgitation, Splenomegaly, Congestive heart failure, Chylopericardium, ...	ORPHA:2414
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone...	OMIM:301078
Microphthalmia With Brain And Digit Anomalies	Microphthalmia, Anophthalmia, Cryptorchidism	ORPHA:139471
Perrault Syndrome 4	Gait ataxia, Hypoplasia of the uterus, Bicornuate uterus, Hypoplasia of the ovary, Cognitive impa...	OMIM:615300
Mody	Elevated hemoglobin A1c, Abnormality of the kidney, Transient neonatal diabetes mellitus, Insulin...	ORPHA:552
Caudal Duplication	Abnormal penis morphology, Ureteral duplication, Renal hypoplasia/aplasia, Cryptorchidism, Uterus...	ORPHA:1756
Macrocephaly/Autism Syndrome	Hepatomegaly, Short attention span, Dilation of Virchow-Robin spaces, Penile freckling, Splenomeg...	OMIM:605309
Fraser Syndrome 1	Anophthalmia, Hypospadias, Renal hypoplasia/aplasia, Cryptorchidism, Bilateral microphthalmos, Re...	OMIM:219000
Liver Disease, Severe Congenital	Cardiomegaly, Biliary hyperplasia, Abnormal left ventricular function, Leukopenia, Aminoaciduria,...	OMIM:619991
Erythrocytosis, Familial, 1	Myocardial infarction, Cerebral hemorrhage, Splenomegaly, Increased hemoglobin, Increased red blo...	OMIM:133100
Congenital Disorder Of Glycosylation, Type Iil	Hepatomegaly, Pancytopenia, Ventricular septal defect, Elevated circulating creatine kinase conce...	OMIM:614576
Caudal Duplication Anomaly	Ureteral duplication, Uterus didelphys	OMIM:607864
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Epistaxis, Cerebral arteriovenous malformation, Pulmonary arteriovenous malformation, Telangiecta...	OMIM:175050
Microphthalmia, Syndromic 5	Anophthalmia, Optic nerve hypoplasia, Cryptorchidism, Microphthalmia, Micropenis	OMIM:610125
Primary Intestinal Lymphangiectasia	Peritoneal effusion, Pericardial effusion, Abnormal lymphatic vessel morphology, Ascites, Reduced...	ORPHA:90362
Typhoid	Gastrointestinal hemorrhage, Hepatomegaly, Ataxia, Epistaxis, Cardiac arrest, Splenomegaly, Letha...	ORPHA:99745
Pediatric Systemic Lupus Erythematosus	Dark urine, Lymphopenia, Renal insufficiency, Proteinuria, Pericardial effusion, Raynaud phenomen...	ORPHA:93552
Gaucher Disease Type 1	Hepatomegaly, Pancytopenia, Proteinuria, Hypersplenism, Thrombocytopenia, Splenomegaly, Pericardi...	ORPHA:77259
Renal Hypodysplasia/Aplasia 1	Renal dysplasia, Proteinuria, Hypertension, Bilateral renal agenesis, Bicornuate uterus, Vaginal ...	OMIM:191830
Anophthalmia Plus Syndrome	Anophthalmia	ORPHA:1104
Right Atrial Isomerism	Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri...	OMIM:208530
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Ventricular septal defect, Impaired glucose tolerance, Splenomegaly, Chronic kidney...	OMIM:615630
Diaphanospondylodysostosis	Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Abnormal liver lobulation, Cystic renal ...	OMIM:608022
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Thrombocytopenia-Absent Radius Syndrome	Abnormality of the kidney, Horseshoe kidney, Abnormal cardiac septum morphology, Aplasia of the u...	ORPHA:3320
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Polycythemia, Anemia of inadequate producti...	ORPHA:3202
Cardiac Diverticulum	Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Pulmonary artery hypopl...	ORPHA:1686
Immunodeficiency 13	Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ...	OMIM:615518
Coach Syndrome 1	Hepatomegaly, Ataxia, Portal hypertension, Unilateral renal agenesis, Vascular dilatation, Abnorm...	OMIM:216360
Vacterl With Hydrocephalus	Anophthalmia, Renal agenesis, Renal hypoplasia/aplasia, Cryptorchidism, Abnormal fallopian tube m...	ORPHA:3412
Isolated Right Ventricular Hypoplasia	Tricuspid regurgitation, Abnormal atrioventricular conduction, Cardiomegaly, Right ventricular fa...	ORPHA:439
Acrocephalopolydactylous Dysplasia	Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Polysplenia, Ascites, Cystic renal dysplasia...	OMIM:200995
Loeys-Dietz Syndrome 6	Ventricular hypertrophy, Carotid artery dissection, Thoracic aortic aneurysm, Varicose veins, Dil...	OMIM:619656
Ovarian Fibrothecoma	Ovarian fibroma, Peritonitis, Abnormal endometrium morphology, Gonadal calcification, Ascites, Ab...	ORPHA:314478
Microsporidiosis	Brain abscess, Cholangitis, Abnormality of the spleen, Lymphadenitis, Peritonitis, Biliary tract ...	ORPHA:2552
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Hepatomegaly, Ataxia, Splenomegaly, Emotional lability, Irritability, Decreased serum zinc, Hypog...	OMIM:201100
Chromosome 18Q Deletion Syndrome	Broad-based gait, Absence of the pulmonary valve, Ventricular septal defect, Hypospadias, Cryptor...	OMIM:601808
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Accelerated atherosclerosis, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyce...	ORPHA:280365
Opitz Gbbb Syndrome	Bifid scrotum, Short attention span, Enlarged ovaries, Ventricular septal defect, Hypospadias, Cr...	ORPHA:2745
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Recurrent urinary tract infections, Left-to-right shunt, Hypospadias, Abnormality of the kidney, ...	ORPHA:363444
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Congestive heart failure, Arterial rupture, Impaired tandem gait, Mitral valve prolapse, Aortic d...	ORPHA:1900
Amyloidosis, Hereditary, Transthyretin-Related	Ataxia, Urinary incontinence, Confusion, Cardiomegaly, Limb ataxia, Stroke-like episode, Cardiomy...	OMIM:105210
Loeys-Dietz Syndrome 3	Tortuous cerebral arteries, Bicuspid aortic valve, Atrial septal defect, Abdominal aortic aneurys...	OMIM:613795
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Hypouricemia, Ataxia, Autoimmune thrombocytopenia, Abnormal T cell m...	ORPHA:760
Lymphoproliferative Syndrome 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, H...	OMIM:615122
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Epistaxis, Reduced platelet ...	OMIM:314050
Primary Myelofibrosis	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Thrombocytopenia, ...	ORPHA:824
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:610293
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Ketotic h...	ORPHA:79240
Partial Atrioventricular Septal Defect	Bicuspid aortic valve, Abnormal tricuspid valve morphology, Bacterial endocarditis, Atrial arrhyt...	ORPHA:1330
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Abnormal cardiac ventricular function, Paroxysmal atrial fibrillation, Tricuspid re...	ORPHA:1677
Ataxia-Telangiectasia	Conjunctival telangiectasia, Diabetes mellitus, Ataxia, Female hypogonadism, Elevated circulating...	OMIM:208900
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Anisocytosis, Hepatic fibrosis, High-output congestive heart failur...	ORPHA:231226
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Hemolytic anemia, Lymphopenia, Thrombocytopenia, Genital ulcers	OMIM:616744
Hemophagocytic Syndrome Associated With An Infection	Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Ataxia, Increased circulating ferritin concentr...	ORPHA:158048
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatomegaly, Elevated circulating creatine kinase concentration, Lymphadenitis, Leukocytosis, Sp...	OMIM:615895
Glycogen Storage Disease Ixc	Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Bile duct proliferation, Cirrhosi...	OMIM:613027
Teebi Hypertelorism Syndrome 1	Ventricular septal defect, Hydrocele testis, Aortic root aneurysm, Bicornuate uterus, Shawl scrot...	OMIM:145420
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Hepatomegaly, Spontaneous, recurrent epistaxis, Ataxia...	OMIM:214500
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Hypoglycemia, Precocious puberty, Insulin-resistant diabetes mellitus, Long penis, Hyperinsulinem...	OMIM:262190
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Intestinal lymphangiectasia, Lymphopenia, Hypoproteinemia	OMIM:207731
Linear Skin Defects With Multiple Congenital Anomalies 1	Overriding aorta, Ventricular septal defect, Hypospadias, Ovotestis, Junctional ectopic tachycard...	OMIM:309801
Smith-Lemli-Opitz Syndrome	Bifid scrotum, Small scrotum, Renal cyst, Hypoalbuminemia, Hypocholesterolemia, Atrial septal def...	OMIM:270400
Hypocomplementemic Urticarial Vasculitis	Hepatomegaly, Glomerulopathy, Renal insufficiency, Abnormal heart valve morphology, Ataxia, Prote...	ORPHA:36412
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Cardiomeg...	OMIM:618278
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Renal malrotation, Multicystic kidney dysplasia, Transient neutropenia, Ventricular septal defect...	ORPHA:500095
Syndromic Diarrhea	Bicuspid aortic valve, Abnormality of the liver, Hypoplasia of the thymus, Hepatic fibrosis, Atri...	ORPHA:84064
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Hemoglobinuria, Prolonged ne...	OMIM:300908
Hand-Foot-Genital Syndrome	Recurrent urinary tract infections, Ventricular septal defect, Hypospadias, Abnormality of the ur...	ORPHA:2438
Pyruvate Kinase Deficiency Of Red Cells	Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina...	OMIM:266200
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ...	OMIM:620066
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Congestive heart failure, Anemia	ORPHA:163596
Obesity Due To Congenital Leptin Deficiency	Hypertriglyceridemia, Hypergonadotropic hypogonadism, Insulin-resistant diabetes mellitus, Hyperi...	ORPHA:66628
Müllerian Duct Anomalies-Limb Anomalies Syndrome	Hypoplasia of penis, Uterus didelphys	ORPHA:2491
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly	OMIM:613576
Dehydrated Hereditary Stomatocytosis 2	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase...	OMIM:616689
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Epistaxis, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenome...	OMIM:619463
Absence Of The Pulmonary Artery	Abnormal EKG, Atrial flutter, Tachycardia, Atrial fibrillation, Abnormal coronary artery morpholo...	ORPHA:980
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinoph...	ORPHA:331206
Duplication Of Urethra	Urethral stricture, Bifid scrotum, Anuria, Urinary incontinence, Rectourethral fistula, Epispadia...	ORPHA:237
Microphthalmia, Syndromic 2	Anophthalmia, Ventricular septal defect, Dextrocardia, Hypospadias, Septate vagina, Cryptorchidis...	OMIM:300166
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Hepatomegaly, Abnormal blood inorganic cation concentration, Portal hypertension, Splenomegaly, M...	ORPHA:309854
Beta-Thalassemia Major	Extramedullary hematopoiesis, Hepatic fibrosis, Hepatomegaly, Anemia of inadequate production, Hi...	ORPHA:231214
Gaucher Disease, Type I	Hepatomegaly, Pancytopenia, Epistaxis, Hypersplenism, Splenomegaly, Anemia, Hypertension, Mitral ...	OMIM:230800
Sitosterolemia 1	Reticulocytosis, Hyperapobetalipoproteinemia, Coronary artery atherosclerosis, Carotid artery ste...	OMIM:210250
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count...	OMIM:612690
Cryoglobulinemic Vasculitis	Gastrointestinal hemorrhage, Hepatomegaly, Viral hepatitis, Glomerulopathy, Renal insufficiency, ...	ORPHA:91138
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop...	OMIM:603554
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Neonatal hypoglycemia, Renal salt wasting, Sex reversal, Increased circulating renin level, Ambig...	ORPHA:168558
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Hyperhomo...	OMIM:617780
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Hepatomegaly, Decreased proportion of naive T cells, Jaundice, Lymph node hypoplasia, Abnormally ...	ORPHA:276
Combined Oxidative Phosphorylation Deficiency 33	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiac arrest, Cardiomegaly, C...	OMIM:617713
Anemia, Congenital Dyserythropoietic, Type Ii	Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis	OMIM:224100
Tuberous Sclerosis Complex	Renal insufficiency, Abnormality of the kidney, Chronic kidney disease, Stage 5 chronic kidney di...	ORPHA:805
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Anophthalmia, Tricuspid regurgitation, Cryptorchidism, Mitral regurgitation, Tricuspid valve prol...	ORPHA:1101
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Neonatal hypoglycemia, Renal salt wasting, Sex reversal, Increased circulating renin level, Ambig...	ORPHA:289548
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia, Vaginal atresia	OMIM:248450
Gm1-Gangliosidosis, Type I	Hepatomegaly, Abnormal heart valve morphology, Splenomegaly, Congestive heart failure, Vacuolated...	OMIM:230500
Whipple Disease	Hyponatremia, Hepatomegaly, Pericarditis, Gastrointestinal hemorrhage, Ataxia, Myocardial infarct...	ORPHA:3452
Immunodeficiency 7	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut...	OMIM:615387
Hereditary Spherocytosis	Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Ataxia...	ORPHA:822
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Autoimmune hemolytic anemia, Medial calcification of large arteries, Autoimmune thrombocytopenia,...	ORPHA:391487
Ovarian Dysgenesis 6	Hypoplasia of the uterus, Hypergonadotropic hypogonadism	OMIM:618078
Bannayan-Riley-Ruvalcaba Syndrome	Angina pectoris, Hypoglycemia, Telangiectasia, Intracranial hemorrhage, Aortic aneurysm, Arteriov...	ORPHA:109
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hepatomegaly, Hypoglycemia, Elevated circulating alpha-fetoprotein concentration, Portal hyperten...	OMIM:251880
Portal Hypertension, Noncirrhotic, 1	Splenomegaly, Hepatomegaly, Portal hypertension	OMIM:617068
Essential Thrombocythemia	Transient ischemic attack, Myocardial infarction, Abnormal cerebral vascular morphology, Splenome...	ORPHA:3318
Premature Ovarian Failure 7	Hypoplasia of the uterus, Gonadal dysgenesis, Clitoral hypertrophy	OMIM:612964
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Pericarditis, Elevated circulating C-reactive protein concentration, Splenomegaly, ...	ORPHA:85414
Okamoto Syndrome	Ureteropelvic junction obstruction, Ventricular septal defect, Urinary incontinence, Abnormally l...	ORPHA:2729
Estrogen Resistance Syndrome	Enlarged polycystic ovaries, Hyperinsulinemia, Hypoplasia of the uterus, Glucose intolerance, Cor...	ORPHA:785
Chédiak-Higashi Syndrome	Vacuolated lymphocytes, Neutropenia, Abnormal natural killer cell morphology, Hyponatremia, Ataxi...	ORPHA:167
Drug-Induced Autoimmune Hemolytic Anemia	Abnormal urinary color, Autoimmune hemolytic anemia, Tachycardia, Splenomegaly, Congestive heart ...	ORPHA:90037
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Bifid scrotum, Bicuspid aortic valve, Micropenis, Hepatic steatosis, Ataxia, Hypospadias, Depress...	OMIM:619475
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Abnormal EKG, Elevated circulating creatine kinase concentration, Cardiomegaly, Inability to walk...	ORPHA:268
Macs Syndrome	Dilation of Virchow-Robin spaces, Hypergonadotropic hypogonadism, Cryptorchidism, Urethral stenos...	OMIM:613075
Exstrophy-Epispadias Complex	Bifid scrotum, Urinary incontinence, Epispadias, Bladder duplication, Absent penis, Vesicouretera...	ORPHA:322
Lateral Meningocele Syndrome	Neurogenic bladder, Ventricular septal defect, Bicuspid aortic valve, Cryptorchidism, Patent duct...	OMIM:130720
Sea-Blue Histiocytosis	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia	ORPHA:158029
Waldenström Macroglobulinemia	Normocytic anemia, Hepatomegaly, Renal insufficiency, Gastrointestinal hemorrhage, Ataxia, Epista...	ORPHA:33226
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Akinesia, Cardiomegaly, Progressive neurologic deterioration, Thrombocytopenia, Spl...	OMIM:608013
Beaulieu-Boycott-Innes Syndrome	Recurrent urinary tract infections, Ventricular septal defect, Endometriosis, Unilateral renal ag...	OMIM:613680
Wilson Disease	Hepatomegaly, Thrombocytopenia, Splenomegaly, Jaundice, Hepatitis, Depression, Cirrhosis, Difficu...	ORPHA:905
Marburg Hemorrhagic Fever	Elevated circulating creatine kinase concentration, Leukopenia, Hypoalbuminemia, Lethargy, Abnorm...	ORPHA:99826
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Hypoplasia of the ovary,...	OMIM:614841
Fucosidosis	Hepatomegaly, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Glycopeptiduria, Oligosaccharid...	OMIM:230000
Lymphoid Interstitial Pneumonia	Hepatomegaly, Raynaud phenomenon, Mediastinal lymphadenopathy, Pulmonary venous hypertension, Enl...	ORPHA:79128
Naxos Disease	Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ...	OMIM:601214
Abetalipoproteinemia	Decreased HDL cholesterol concentration, Cardiomegaly, Dysmetria, Gait ataxia, Steppage gait, Hyp...	ORPHA:14
Gaucher Disease Type 3	Hepatomegaly, Pancytopenia, Mitral valve calcification, Abnormal heart valve morphology, Ataxia, ...	ORPHA:77261
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H...	OMIM:618398
Partial Androgen Insensitivity Syndrome	Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Hypospadias, Bilateral cryptorchidism, P...	ORPHA:90797
Niemann-Pick Disease, Type C2	Hepatomegaly, Ataxia, CNS foam cells, Fetal ascites, Bone-marrow foam cells, Splenomegaly, Jaundi...	OMIM:607625
Solitary Median Maxillary Central Incisor	Microphthalmia, Anophthalmia	OMIM:147250
Lumbar Syndrome	Bifid scrotum, Ambiguous genitalia, Renal agenesis, Hypospadias, Bifid uterus, Cryptorchidism, Hy...	ORPHA:83628
Fraser Syndrome	Hypoplasia of penis, Anophthalmia, Multicystic kidney dysplasia, Hypospadias, Small scrotum, Cryp...	ORPHA:2052
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Tricuspid regurgitation, Cardiomegaly, Pericardial effusion, Anomalous pulmonary ve...	ORPHA:555874
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Ventricular septal defect, Hypospadias, Cardiomegaly, Hypertrophic cardiomyopathy, Micropenis, As...	OMIM:616897
Ovarian Dysgenesis 2	Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism	OMIM:300510
Leydig Cell Hypoplasia	Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp...	ORPHA:755
Pgm3-Cdg	Hemolytic anemia, Membranoproliferative glomerulonephritis, Abnormal proportion of CD8-positive T...	ORPHA:443811
Aneurysm-Osteoarthritis Syndrome	Aortic regurgitation, Uterine prolapse, Atrial fibrillation, Arterial dissection, Arterial tortuo...	ORPHA:284984
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Macroorchidism, Ventricular septal defect, Ascending tubular aorta aneurysm, Low frustration tole...	OMIM:309520
46,Xx Ovotesticular Difference Of Sex Development	Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H...	ORPHA:2138
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Ataxia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Nephro...	OMIM:616084
Felty Syndrome	Hepatomegaly, Pericarditis, Recurrent urinary tract infections, Thrombocytopenia, Splenomegaly, L...	ORPHA:47612
Meckel Syndrome 12	Ureteral hypoplasia, Renal hypoplasia, Hypoplasia of the uterus, Bilateral renal agenesis, Vagina...	OMIM:616258
Isotretinoin-Like Syndrome	Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Patent ductus arteriosus, Abnormal ...	ORPHA:2306
Cockayne Syndrome Type 3	Progressive neurologic deterioration, Hepatomegaly, Renal hypoplasia, Cardiomyopathy, Urinary ret...	ORPHA:90324
Satoyoshi Syndrome	Hypoplasia of the uterus, Mildly elevated creatine kinase	OMIM:600705
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Azoospermia, Micropenis,...	OMIM:614837
Diethylstilbestrol Syndrome	Hypospadias, Vaginal neoplasm, Abnormal reproductive system morphology, Cryptorchidism, Testicula...	ORPHA:1916
Double Outlet Left Ventricle	Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom...	ORPHA:3427
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Tachycardia, Eosinophilia,...	ORPHA:98849
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Atrial septal defect, Vesicoureteral...	OMIM:301068
American Trypanosomiasis	Hepatomegaly, Splenomegaly, Myocarditis, Congestive heart failure, Lymphadenopathy, Cardiomyopath...	ORPHA:3386
Familial Cerebral Saccular Aneurysm	Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh...	ORPHA:231160
Familial Hemophagocytic Lymphohistiocytosis	Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin concentration, Thrombocytopeni...	ORPHA:540
Thrombocythemia 1	Splenomegaly, Thrombocytosis	OMIM:187950
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Atax...	OMIM:613470
Vaginal Atresia	Cervicitis, Vaginal hematocele, Abdominal mass, Pelvic mass, Transverse vaginal septum, Uterus di...	ORPHA:65681
Cantu Syndrome	Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Patent ductus arteriosus, Congenital h...	OMIM:239850
Maturity-Onset Diabetes Of The Young, Type 13	Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet...	OMIM:616329
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Eosinophilia, Hepatitis, Hepatosplenomegaly, Decreased proportion of CD3-positive T cells, Lympho...	ORPHA:169160
Neurodegeneration And Seizures Due To Copper Transport Defect	Tricuspid regurgitation, Cardiomegaly, Glandular hypospadias, Abnormal circulating ceruloplasmin ...	OMIM:620306
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Elevated circulating creatine kinase concentration, Abnormal left ventricula...	ORPHA:99827
Brucellosis	Liver abscess, Elevated circulating C-reactive protein concentration, Leukopenia, Abnormality of ...	ORPHA:1304
Loeys-Dietz Syndrome 4	Bicuspid aortic valve, Arterial tortuosity, Mitral valve prolapse, Ascending tubular aorta aneury...	OMIM:614816
Congenital Heart Defects, Multiple Types, 7	Absence of the pulmonary valve, Aortopulmonary collateral arteries, Depression, Right aortic arch...	OMIM:618780
Endocrine-Cerebroosteodysplasia	Small scrotum, Hypospadias, Cryptorchidism, Sex reversal, Microphallus, Ambiguous genitalia, Hype...	OMIM:612651
Omenn Syndrome	Hepatomegaly, Eosinophilia, Splenomegaly, Leukocytosis, Lymphadenopathy, Nephrotic syndrome, Abno...	ORPHA:39041
Tatton-Brown-Rahman Syndrome	Tricuspid regurgitation, Supraventricular tachycardia with an accessory connection mediated pathw...	ORPHA:404443
Lipodystrophy, Familial Partial, Type 2	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Acute pancreatitis, ...	OMIM:151660
Thrombocytopenia-Absent Radius Syndrome	Ureteral duplication, Renal malrotation, Ventricular septal defect, Eosinophilia, Pancreatic cyst...	OMIM:274000
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Hypoplasia of penis, Anophthalmia, External genital hypoplasia, Cryptorchidism, Hypogonadism, Mic...	ORPHA:2250
Alkaptonuria	Mitral valve calcification, Coronary artery calcification, Aortic valve calcification, Elevated u...	OMIM:203500
Scimitar Syndrome	Heart block, Pulmonary artery hypoplasia, Atrial septal defect, Single ventricle, Patent ductus a...	ORPHA:185
Congenital Heart Defects, Multiple Types, 6	Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a...	OMIM:613854
Estrogen Resistance	Impaired glucose tolerance, Hyperinsulinemia, Polycystic ovaries, Hypoplasia of the uterus, Gluco...	OMIM:615363
Normosmic Congenital Hypogonadotropic Hypogonadism	Hypogonadotropic hypogonadism, Female hypogonadism, Non-obstructive azoospermia, Cryptorchidism, ...	ORPHA:432
Distal 22Q11.2 Microdeletion Syndrome	Aortic regurgitation, Recurrent urinary tract infections, Ventricular septal defect, Depression, ...	ORPHA:261330
Autoimmune Hepatitis	Gastrointestinal hemorrhage, Viral hepatitis, Diffuse hepatic steatosis, Glomerulonephritis, Spid...	ORPHA:2137
Omodysplasia 2	Hypospadias, Cryptorchidism, Uterus didelphys, Clitoral hypoplasia, Labial hypoplasia, Micropenis	OMIM:164745
Meckel Syndrome 14	Tricuspid regurgitation, Mitral regurgitation, Hepatic fibrosis, Polycystic kidney dysplasia, Apl...	OMIM:619879
Aortic Valve Disease 3	Bicuspid aortic valve, Aortic root aneurysm, Ascending aortic dissection, Atrial septal defect, A...	OMIM:618496
Familial Mediterranean Fever	Hepatomegaly, Pericarditis, Neutrophilia, Elevated circulating C-reactive protein concentration, ...	OMIM:249100
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, Pulmonary artery stenos...	OMIM:617237
T-Cell Immunodeficiency With Thymic Aplasia	Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci...	OMIM:242700
Williams Syndrome	Hypoplasia of penis, Bicuspid aortic valve, Elevated circulating creatine kinase concentration, M...	ORPHA:904
Caroli Disease	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Conjugated hyp...	ORPHA:53035
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Leukocytosis, Intraalveolar phospholipid accumulation	OMIM:618042
Müllerian Aplasia And Hyperandrogenism	Hypoplasia of the uterus, Abnormal vagina morphology, Renal agenesis, Abnormality of the ovary	ORPHA:247768
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, H...	OMIM:235700
46,Xy Sex Reversal 11	Abnormal internal genitalia, Vanishing testis, Aplasia of the uterus, Gonadal dysgenesis with fem...	OMIM:273250
Autoimmune Lymphoproliferative Syndrome	Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-b...	ORPHA:3261
Premature Ovarian Failure 3	Hypoplasia of the uterus	OMIM:608996
Renal And Mullerian Duct Hypoplasia	Renal hypoplasia, Horseshoe kidney, Anteriorly displaced urethral meatus, Hydrocele testis, Aplas...	OMIM:266810
Donnai-Barrow Syndrome	Ventricular septal defect, Proteinuria, Non-acidotic proximal tubulopathy, Hypoplasia of the iris...	OMIM:222448
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenop...	OMIM:616100
Blau Syndrome	Clear cell renal cell carcinoma, Pericarditis, Splenomegaly, Stage 5 chronic kidney disease, Larg...	ORPHA:90340
Diabetes Mellitus, Permanent Neonatal, 4	Elevated hemoglobin A1c, Reduced C-peptide level, Diabetic ketoacidosis, Type I diabetes mellitus...	OMIM:618858
Q Fever	Hepatomegaly, Pericarditis, Abnormal heart valve morphology, Pericardial effusion, Thrombocytopen...	ORPHA:781
Koolen-De Vries Syndrome Due To A Point Mutation	Recurrent urinary tract infections, Bicuspid aortic valve, Ventricular septal defect, Hypospadias...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Recurrent urinary tract infections, Bicuspid aortic valve, Ventricular septal defect, Hypospadias...	ORPHA:363958
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Ventricular septal defect, Thyroid lymphangiectasia, Splenomegaly, Pancreatic lymph...	OMIM:235255
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Precocious puberty, Microphthalmia, Anophthalmia, Hypospadias	OMIM:615877
Meckel Syndrome, Type 1	External genital hypoplasia, Asplenia, Ambiguous genitalia, female, Ambiguous genitalia, male, Ab...	OMIM:249000
Mogs-Cdg	Hepatomegaly, Atrial septal defect, External genital hypoplasia, Cardiomegaly, Hepatosplenomegaly...	ORPHA:79330
Cholestasis, Progressive Familial Intrahepatic, 3	Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammation, Portal fibro...	OMIM:602347
Fryns Syndrome	Bifid scrotum, Ureteral duplication, Ectopic pancreatic tissue, Ventricular septal defect, Hyposp...	OMIM:229850
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Left ventricular ...	ORPHA:308552
Congenital Contractural Arachnodactyly	Aortic aneurysm, Mitral valve prolapse	ORPHA:115
Trichohepatoenteric Syndrome 1	Hypoalbuminemia, Hepatic fibrosis, Hepatomegaly, Hypospadias, Increased mean platelet volume, Abn...	OMIM:222470
Proboscis Lateralis	Anophthalmia, Ventricular septal defect, Optic nerve hypoplasia, Unilateral renal agenesis, Exter...	ORPHA:141099
Cholestasis, Progressive Familial Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Epistaxis, Conjugated hyperbilirub...	OMIM:211600
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest...	OMIM:619849
Perrault Syndrome 3	Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism	OMIM:614129
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Hypertension, Pulmonary arterial hypertension, Vascular dilatation, Cardiomegaly	OMIM:613320
Ehlers-Danlos Syndrome, Vascular Type	Recurrent intrapulmonary hemorrhage, Carotid cavernous fistula, Diffuse alveolar hemorrhage, Cryp...	OMIM:130050
Lujo Hemorrhagic Fever	Shock, Renal insufficiency, Confusion, Elevated circulating C-reactive protein concentration, Mic...	ORPHA:319213
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Hepatomegaly, Reticulocytosis, Increased circulating ferritin concentration, Splenomegaly, Jaundi...	OMIM:194380
Loeys-Dietz Syndrome 2	Aortic arch aneurysm, Bicuspid aortic valve, Arterial tortuosity, Descending thoracic aorta aneur...	OMIM:610168
14Q22Q23 Microdeletion Syndrome	Optic nerve aplasia, Anophthalmia, Small scrotum, Cryptorchidism, Renal hypoplasia	ORPHA:264200
Cyclic Neutropenia	Cyclic neutropenia, Perianal abscess, Cervical lymphadenopathy, Peritonitis, Recurrent tonsilliti...	ORPHA:2686
Woodhouse-Sakati Syndrome	Streak ovary, Hypoplasia of the fallopian tube, Insulin-resistant diabetes mellitus, Hyperlipidem...	ORPHA:3464
Familial Renal Glucosuria	Recurrent urinary tract infections, Elevated hemoglobin A1c, Insulin resistance, Renal tubular dy...	ORPHA:69076
Immunodeficiency 23	Hemolytic anemia, Membranoproliferative glomerulonephritis, Ataxia, Abscess, Eosinophilia, Aortic...	OMIM:615816
Gamma-Heavy Chain Disease	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto...	ORPHA:100026
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Splenomegaly, Hepatomegaly, Vasculitis in the skin, Anemia	OMIM:620296
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Ventricular septal defect, Bicuspid aortic valve, Optic nerve hypoplasia, Inability to walk, Cryp...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Ventricular septal defect, Bicuspid aortic valve, Optic nerve hypoplasia, Inability to walk, Cryp...	ORPHA:352665
Alpha-N-Acetylgalactosaminidase Deficiency	Oligosacchariduria, Cardiomegaly	ORPHA:3137
Satoyoshi Syndrome	Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of the ovary, Abnormality of the u...	ORPHA:3130
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Atrial septal defect, Microphthalmia, Leukemia, Anophthalmia	ORPHA:2526
Avian Influenza	Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce...	ORPHA:454836
Vascular Ehlers-Danlos Syndrome	Uterine rupture, Internal hemorrhage, Peripheral arteriovenous fistula, Hypospadias, Cryptorchidi...	ORPHA:286
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Bifid scrotum, Hypospadias, Precocious puberty in females, Bilateral cryptorchidism, Female exter...	ORPHA:90793
Polycythemia Vera	Gastrointestinal hemorrhage, Hepatomegaly, Angina pectoris, Epistaxis, Portal hypertension, Pulmo...	ORPHA:729
Ovarian Dysgenesis 7	Hypoplasia of the uterus	OMIM:618117
22Q11.2 Deletion Syndrome	Abnormal aortic arch morphology, Hypoplasia of the thymus, Abnormality of the uterus, Hypocalcemi...	ORPHA:567
Autosomal Dominant Coarctation Of Aorta	Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m...	ORPHA:1455
Vici Syndrome	Atrial septal defect, Elevated circulating creatine kinase concentration, Congestive heart failur...	OMIM:242840
Pearson Syndrome	Renal cyst, Abnormality of the liver, Hypocalcemia, Neutropenia, Hepatic steatosis, Reticulocytos...	ORPHA:699
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Hypoplasia of the vagina, Clitoral hypertrophy, Ambiguous genitalia, female, Long penis, Hypoplas...	OMIM:202010
Perrault Syndrome 6	Hypoplasia of the uterus, Streak ovary	OMIM:617565
Adams-Oliver Syndrome 5	Portal vein thrombosis, Splenomegaly, Hypersplenism, Right ventricular hypertrophy, Pulmonic sten...	OMIM:616028
Overhydrated Hereditary Stomatocytosis	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Pulmonary embolism, Splenomegaly, Jaundice, Stom...	OMIM:185000
Chronic Visceral Acid Sphingomyelinase Deficiency	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Abnormal heart valve...	ORPHA:77293
Diabetes Mellitus, Permanent Neonatal, 1	Diabetes mellitus, Elevated hemoglobin A1c, Reduced C-peptide level, Type I diabetes mellitus, Hy...	OMIM:606176
Diabetes Mellitus, Transient Neonatal, 3	Elevated hemoglobin A1c, Maternal diabetes, Reduced C-peptide level, Transient neonatal diabetes ...	OMIM:610582
Oeis Complex	Duplicated collecting system, Hydroureter, Renal agenesis, Bifid uterus, Epispadias, Vesicovagina...	OMIM:258040
Sting-Associated Vasculopathy, Infantile-Onset	Elevated circulating C-reactive protein concentration, Follicular hyperplasia, Raynaud phenomenon...	OMIM:615934
Adult Idiopathic Neutropenia	Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia	ORPHA:2688
Chromosome 17Q12 Deletion Syndrome	Hypoplasia of the bladder, Recurrent urinary tract infections, Multicystic kidney dysplasia, Unil...	OMIM:614527
Complete Androgen Insensitivity Syndrome	Abnormal uterine cervix morphology, Testicular neoplasm, Bilateral cryptorchidism, Blind vagina, ...	ORPHA:99429
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, S...	OMIM:224120
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Splenomegaly, Intermittent...	OMIM:601847
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Familial Thrombocytosis	Acute myeloid leukemia, Transient ischemic attack, Splenomegaly, Peripheral arterial stenosis, Ch...	ORPHA:71493
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Left-to-right shunt, Ventricular septal defect, Congestive heart failure, Patent ductus arteriosu...	ORPHA:99050
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Diabetes mellitus, Increased circulating thyroglobulin level, Portal hypertension, ...	OMIM:610199
Lipodystrophy, Congenital Generalized, Type 2	Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Elevated hemoglobin A1c, Splenomegaly, La...	OMIM:269700
Fanconi Anemia, Complementation Group L	Unilateral renal agenesis, Renal hypoplasia, Bone marrow hypocellularity, Aplasia of the uterus, ...	OMIM:614083
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Severe B lymphocytopenia, Portal hypertension, Thrombocytopenia, Cryptorchidism...	OMIM:620005
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Portal hypertension, Thrombocytopenia, Cryptorchidism, Type I diabetes mellitus, Lymphopenia, Anemia	OMIM:620365
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Polycystic kidney dysplasia, Ambiguous genitalia, Micropenis, Renal dysplasia, Enlarged kidney	OMIM:613091
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type	Ventricular septal defect, Cryptorchidism, Mitral regurgitation, Aortic root aneurysm, Attention ...	OMIM:301039
Ovarian Dysgenesis 5	Hypoplasia of the uterus	OMIM:617690
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Ventricular septal defect, Bicuspid aortic valve, Cryptorchidism, Vesicoureteral reflux, Abnormal...	ORPHA:453499
Beck-Fahrner Syndrome	Depression, Ventricular septal defect, Attention deficit hyperactivity disorder, Cardiomegaly	OMIM:618798
Idiopathic Hypereosinophilic Syndrome	Generalized lymphadenopathy, Cholangitis, Pulmonary embolism, Intracranial hemorrhage, Neutrophil...	ORPHA:3260
Immunodeficiency 85 And Autoimmunity	T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased pr...	OMIM:619510
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy...	ORPHA:86843
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Lymphopenia, Hypoproteinemia	ORPHA:1116
Helsmoortel-Van Der Aa Syndrome	Recurrent urinary tract infections, Cryptorchidism, Heart murmur, Mitral valve prolapse, Abnormal...	OMIM:615873
Mixed Connective Tissue Disease	Gastrointestinal hemorrhage, Hemolytic anemia, Hepatomegaly, Pericarditis, Mediastinal lymphadeno...	ORPHA:809
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Splenomegaly, Pancytopenia	OMIM:614979
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Abnormal aortic morphology, Ventricular septal defect, Abnormal tricuspid valve morphology, Anemia	ORPHA:3405
Khan-Khan-Katsanis Syndrome	Ureteral duplication, Tricuspid regurgitation, Patent ductus arteriosus after premature birth, Re...	OMIM:618460
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia	OMIM:612653
Lmna-Related Cardiocutaneous Progeria Syndrome	Ventricular hypertrophy, Mitral valve calcification, Hypertriglyceridemia, Congestive heart failu...	ORPHA:363618
Immunodeficiency 87 And Autoimmunity	Elevated circulating C-reactive protein concentration, Atrial septal defect, Atrioventricular can...	OMIM:619573
Currarino Syndrome	Recurrent urinary tract infections, Neurogenic bladder, Urinary incontinence, Septate vagina, Per...	OMIM:176450
Premature Ovarian Failure 13	Hypoplasia of the uterus	OMIM:617442
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Spherocytosis, Hyperinsulinemia	ORPHA:66518
Autoimmune Hemolytic Anemia, Warm Type	Abnormal urinary color, Autoimmune hemolytic anemia, Tachycardia, Splenomegaly, Jaundice, Congest...	ORPHA:90033
Hand-Foot-Genital Syndrome	Bifid scrotum, Renal insufficiency, Hypospadias, Uterus didelphys, Micropenis, Pyelonephritis, Ch...	OMIM:140000
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbi...	OMIM:616649
Hydrolethalus Syndrome 1	Accessory spleen, Ventricular septal defect, Hypospadias, Bifid uterus, Complete atrioventricular...	OMIM:236680
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia, Cho...	OMIM:182900
Hypomelia With Mullerian Duct Anomalies	Uterus didelphys, Longitudinal vaginal septum	OMIM:146160
Mucopolysaccharidosis Type 3	Hepatomegaly, Ataxia, Progressive neurologic deterioration, Cardiomegaly, Adenoiditis, Splenomega...	ORPHA:581
Simpson-Golabi-Behmel Syndrome, Type 1	Renal cyst, Atrial septal defect, Hepatoblastoma, Hepatomegaly, Hypospadias, Cryptorchidism, Pate...	OMIM:312870
Loeys-Dietz Syndrome	Aortic dissection, Cardiac arrest, Arterial tortuosity, Patent ductus arteriosus, Uterine rupture...	ORPHA:60030
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Short attention span, Diabetes mellitus, Depression, Mitral valve prolapse, Hypertension, Aortic ...	ORPHA:449291
Osteogenesis Imperfecta	Abnormal endocardium morphology, Aortic regurgitation, Arterial dissection, Ataxia, Cerebral hemo...	ORPHA:666
Heterotaxy, Visceral, 12, Autosomal	Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septal defect, Patent...	OMIM:619702
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Anuria, Thoracic aortic aneurysm, Peritonitis, Patent ductus arteriosus, Megacystis, Pyelonephrit...	OMIM:619351
Fontaine Progeroid Syndrome	Atrial septal defect, Prominent superficial veins, Small scrotum, Bicuspid aortic valve, Tricuspi...	OMIM:612289
Behçet Disease	Myocardial infarction, Pulmonary embolism, Glomerulopathy, Ataxia, Confusion, Vasculitis, Lymphad...	ORPHA:117
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
Premature Ovarian Failure 6	Hypoplasia of the uterus, Streak ovary	OMIM:612310
Lipodystrophy, Congenital Generalized, Type 1	Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Diabetes mellitus, Splenomegaly, Labial h...	OMIM:608594
Primary Sclerosing Cholangitis	Abnormal eosinophil morphology, Spider hemangioma, Hypoalbuminemia, Hepatic fibrosis, Neoplasm of...	ORPHA:171
Schinzel-Giedion Midface Retraction Syndrome	Atrial septal defect, Ureteral stenosis, Hypospadias, Hydroureter, Small scrotum, Hypoplastic lab...	OMIM:269150
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Broad-based gait, Hypospadias, Depression, Irritability, Dysdiadochokinesis, Chordee, Aortic root...	OMIM:618891
Immunodeficiency 110 With Lymphoproliferation	Autoimmune hemolytic anemia, Secundum atrial septal defect, Neutropenia, Lymphopenia, Patent fora...	OMIM:614868
Kikuchi-Fujimoto Disease	Hepatomegaly, Generalized lymphadenopathy, Ataxia, Elevated circulating C-reactive protein concen...	ORPHA:50918
Renal Agenesis	Renal insufficiency, Absent vas deferens, Renal agenesis, Ventricular septal defect, Unilateral r...	ORPHA:411709
Lysinuric Protein Intolerance	Hepatomegaly, Hypolysinemia, Increased circulating ferritin concentration, Thrombocytopenia, Sple...	OMIM:222700
Bile Acid Synthesis Defect, Congenital, 1	Hepatomegaly, Giant cell hepatitis, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Jaun...	OMIM:607765
Wilson Disease	Decreased circulating ceruloplasmin concentration, Aminoaciduria, Hypoalbuminemia, Hepatic steato...	OMIM:277900
Ovarian Dysgenesis 9	Hypoplasia of the uterus, Hypoplasia of the ovary	OMIM:619665
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Hyponatremia, Calcinosis, Splenomegaly, Inability to walk, Renal hypoplasia, Nephrocalcinosis, Hy...	OMIM:617913
Bone Marrow Failure Syndrome 6	Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Neut...	OMIM:618849
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Intrahepatic cholestasis, Splenomegaly, Jaundice, Hepatitis, Hematochezia, Acholic ...	OMIM:613812
Proteasome-Associated Autoinflammatory Syndrome 3	Hepatomegaly, Hypertriglyceridemia, Thrombocytopenia, Splenomegaly, Lymphadenopathy, Lymphopenia,...	OMIM:617591
Marfan Syndrome	Mitral valve calcification, Congestive heart failure, Descending aortic dissection, Increased axi...	ORPHA:558
Lethal Congenital Contracture Syndrome 10	Ventricular septal defect, Overriding aorta, Hypoplasia of the thymus, Cardiomegaly	OMIM:617022
Generalized Pustular Psoriasis	Hyponatremia, Renal insufficiency, Elevated circulating C-reactive protein concentration, Congest...	ORPHA:247353
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Ebola Hemorrhagic Fever	Gastrointestinal hemorrhage, Acute pancreatitis, Hepatitis, Melena, Leukopenia, Lethargy, Lymphop...	ORPHA:319218
Myoectodermal Gonadal Dysgenesis Syndrome	Accessory spleen, Unilateral renal agenesis, Hypoplasia of the uterus, Hypoplastic labia majora, ...	OMIM:618419
Glycogen Storage Disease Xii	Normocytic anemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Cholelithias...	OMIM:611881
8P11.2 Deletion Syndrome	Hemolytic anemia, Hypoplasia of penis, Hypogonadotropic hypogonadism, Splenomegaly, Cryptorchidis...	ORPHA:251066
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma...	ORPHA:288
Hyperlipoproteinemia, Type Id	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Pancre...	OMIM:615947
Kyphoscoliotic Ehlers-Danlos Syndrome	Bicuspid aortic valve, Dextrocardia, Cerebral hemorrhage, Subdural hemorrhage, Arterial rupture, ...	ORPHA:536545
Marfanoid Habitus With Situs Inversus	Aortic regurgitation, Situs inversus totalis, Mitral valve prolapse, Aortic root aneurysm, Pulmon...	OMIM:609008
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Absent gallbladder, Septate vagina, Complete atrioventricular canal defect, Uterus didelphys, Mic...	OMIM:617925
Cerebrooculonasal Syndrome	Anophthalmia, Optic nerve hypoplasia, Hypoplastic male external genitalia	OMIM:605627
Premature Ovarian Failure 18	Hypoplasia of the uterus, Hypoplasia of the ovary	OMIM:619203
Shprintzen-Goldberg Craniosynostosis Syndrome	Cryptorchidism, Aortic aneurysm, Mitral valve prolapse	OMIM:182212
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Fetal ascites, Ascending aorta hypoplasia, Hypocalcemia, Low frustration tolerance, Micropenis, P...	OMIM:619503
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Neutropenia, Abnormal blo...	ORPHA:37042
Townes-Brocks Syndrome 2	Hypospadias, Bifid uterus, Rectovaginal fistula, Vesicoureteral reflux, Crossed fused renal ectopia	OMIM:617466
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Hepatosp...	ORPHA:35078
Primary Sjögren Syndrome	Normocytic anemia, Chronic active hepatitis, Leukopenia, Tubulointerstitial nephritis, Abnormalit...	ORPHA:289390
Cap Myopathy	Reduced systolic function, Mitral valve prolapse, Aortic root aneurysm, Tip-toe gait, Sinus tachy...	ORPHA:171881
Aortic Arch Interruption	Bicuspid aortic valve, Aortic valve atresia, Aortopulmonary window, Absent pulse, Single ventricl...	ORPHA:2299
Cerebellar-Facial-Dental Syndrome	Ventricular septal defect, Cryptorchidism, Mitral valve prolapse, Ascending tubular aorta aneurys...	ORPHA:444072
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Ventricu...	OMIM:243150
Seckel Syndrome 7	Hypoplasia of the uterus	OMIM:614851
Woodhouse-Sakati Syndrome	Diabetes mellitus, Hypogonadotropic hypogonadism, Hypergonadotropic hypogonadism, Hypoplasia of t...	OMIM:241080
Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	ORPHA:2717
Generalized Arterial Calcification Of Infancy	Medial calcification of large arteries, Cardiomegaly, Abnormal retinal artery morphology, Medial ...	ORPHA:51608
46,Xx Sex Reversal 2	Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal...	OMIM:278850
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Noncompaction cardiomyopathy, Tricuspid regurgitation, Thrombocytopenia, Congestive heart failure...	ORPHA:508542
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Ventricular septal defect, Hypoglycemia, Ne...	OMIM:619418
Sotos Syndrome	Ureteral duplication, Vesicoureteral reflux, Atrial septal defect, Hypospadias, Abnormality of th...	ORPHA:821
Immunodeficiency 47	Normocytic anemia, Accessory spleen, Hepatomegaly, Tricuspid regurgitation, Decreased circulating...	OMIM:300972
Familial Bicuspid Aortic Valve	Aortic regurgitation, Aortic arch aneurysm, Bicuspid aortic valve, Aortic valve calcification, He...	ORPHA:402075
Focal Dermal Hypoplasia	Ureteral duplication, Anophthalmia, Cryptorchidism, Horseshoe kidney, Telangiectasia, Clitoral hy...	OMIM:305600
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Whim Syndrome	Lymphadenitis, Tetralogy of Fallot, Abnormal neutrophil morphology, Limb ataxia, Neutropenia, Cer...	ORPHA:51636
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Pericarditis, Elevated circulating C-reactive protein concentration, Orchitis, Splenomegaly, Leuk...	ORPHA:32960
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia	Hypoplasia of the uterus, Hypogonadotropic hypogonadism	OMIM:614842
Zimmermann-Laband Syndrome 1	Aortic arch aneurysm, Hepatomegaly, Splenomegaly, Patent ductus arteriosus, Long penis, Nephrolit...	OMIM:135500
46,Xx Sex Reversal 1	True hermaphroditism, Hypospadias, Ovotestis, Sex reversal, Azoospermia, Bicornuate uterus, Clito...	OMIM:400045
1P36 Deletion Syndrome	Aortic arch aneurysm, Hypoplasia of penis, Abnormal heart valve morphology, Hypospadias, Abnormal...	ORPHA:1606
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia	OMIM:617441
Aicardi-Goutieres Syndrome 7	Hemolytic anemia, Hepatomegaly, Generalized lymphadenopathy, Pancytopenia, Pericardial effusion, ...	OMIM:615846
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration...	OMIM:207750
Epidermal Nevus Syndrome	Polycystic kidney dysplasia, Aortic aneurysm	ORPHA:35125
Common Variable Immunodeficiency	Hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Vasculitis, Lymphadenopathy, Abnorma...	ORPHA:1572
Mullerian Aplasia And Hyperandrogenism	Abnormal external genitalia, Unilateral renal agenesis, Aplasia of the vagina, Aplasia of the fal...	OMIM:158330
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Diffuse mesangial sclerosis, Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia,...	OMIM:102700
Neonatal Marfan Syndrome	Tricuspid regurgitation, Abnormal cardiac ventricle morphology, Heart murmur, Mitral valve prolap...	ORPHA:284979
Heterotaxy, Visceral, 8, Autosomal	Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm...	OMIM:617205
Abdominal Obesity-Metabolic Syndrome 3	Hypertriglyceridemia, Myocardial infarction, Increased LDL cholesterol concentration, Hypertensio...	OMIM:615812
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Renal neoplasm, Thoracic aortic aneurysm, Mitral valve prolapse, Ascending tubular aorta aneurysm...	ORPHA:536467
Hereditary Orotic Aciduria	Orotic acid crystalluria, Splenomegaly, Patent ductus arteriosus, Abnormality of the ureter, Amin...	ORPHA:30
Autosomal Dominant Cutis Laxa	Aortic regurgitation, Unilateral renal agenesis, Congestive heart failure, Dilatation of the vent...	ORPHA:90348
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Fused labia majora, Neonatal hypoglycemia, Renal salt wasting, Ambiguous genitalia, female, Hypon...	ORPHA:90794
Acro-Renal-Mandibular Syndrome	Bicornuate uterus, Uterus didelphys, Renal hypoplasia/aplasia	ORPHA:958
Yuan-Harel-Lupski Syndrome	Broad-based gait, Ventricular septal defect, Bicuspid aortic valve, Unsteady gait, Gait ataxia, A...	OMIM:616652
Developmental And Epileptic Encephalopathy 95	Hepatomegaly, Ataxia, Cardiomegaly, Inability to walk, Cryptorchidism, Gait disturbance	OMIM:618143
Heart Defects, Congenital, And Other Congenital Anomalies	Ureteral duplication, Biliary atresia, Atrial septal defect, Hyperglycemia, Pancreatic hypoplasia...	OMIM:600001
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hemolytic anemia, Hepatomegaly, Ataxia, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, In...	OMIM:608885
Turner Syndrome Due To Structural X Chromosome Anomalies	Bicuspid aortic valve, Myocardial infarction, Ectopic kidney, Glucose intolerance, Hepatic fibros...	ORPHA:99413
Mosaic Monosomy X	Bicuspid aortic valve, Myocardial infarction, Ectopic kidney, Glucose intolerance, Hepatic fibros...	ORPHA:99228
Monosomy X	Bicuspid aortic valve, Myocardial infarction, Ectopic kidney, Glucose intolerance, Hepatic fibros...	ORPHA:99226
Turner Syndrome	Bicuspid aortic valve, Myocardial infarction, Ectopic kidney, Glucose intolerance, Hepatic fibros...	ORPHA:881
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Pancytopenia, Lymphopenia, Bone marrow hypocellularity, Abnormally low T cell receptor excision c...	OMIM:619767
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Ataxia, Thrombocytopenia, Hepatic necrosis, Leukopenia, Increased mean corpuscul...	OMIM:127550
Holoprosencephaly 9	Anophthalmia, Optic nerve hypoplasia, Cryptorchidism, Microphthalmia, Micropenis	OMIM:610829
Reynolds Syndrome	Calcinosis, Hepatomegaly, Gastrointestinal hemorrhage, Raynaud phenomenon, Splenomegaly, Jaundice...	OMIM:613471
46,Xy Sex Reversal 7	Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Sex reversal, Gonadobla...	OMIM:233420
Familial Mediterranean Fever	Pericarditis, Proteinuria, Myocardial infarction, Orchitis, Splenomegaly, Peritonitis, Vasculitis...	ORPHA:342
Congenital Total Pulmonary Venous Return Anomaly	Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s...	ORPHA:99125
Gaucher Disease	Hepatomegaly, Pancytopenia, Mitral valve calcification, Abnormal heart valve morphology, Abnormal...	ORPHA:355
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Neonatal insulin-dependent diabetes mellitus, Ventricular septal defect, Cardiomega...	ORPHA:96191
Marfan Syndrome	Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Congestive heart failure, M...	OMIM:154700
Cardiac-Valvular Ehlers-Danlos Syndrome	Aortic regurgitation, Atrial septal defect, Tricuspid regurgitation, Abnormal heart valve morphol...	ORPHA:230851
Mayer-Rokitansky-Küster-Hauser Syndrome	Hypoplasia of the vagina, Abnormality of the kidney, Unilateral renal agenesis, Ectopic kidney, H...	ORPHA:3109
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hepatomegaly, Hyperphosphaturia, Hypercalcemia, Polyuria, Splenomegaly, Hypercalciuri...	OMIM:239200
Budd-Chiari Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Peritonit...	ORPHA:131
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Atrial septal defect, Bicuspid aortic valve, Cardiomegaly, Abnormally large globe, Mitral valve p...	OMIM:245600
Bartsocas-Papas Syndrome 1	Ectopic kidney, Bilateral cryptorchidism, Absent external genitalia, Hypoplastic labia majora, Bi...	OMIM:263650
Epidermodysplasia Verruciformis, Susceptibility To, 5	T lymphocytopenia, Lymphopenia	OMIM:618309
Testicular Agenesis	Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Hypoplasia o...	ORPHA:325124
Loeys-Dietz Syndrome 1	Bicuspid aortic valve, Arterial tortuosity, Descending thoracic aorta aneurysm, Patent ductus art...	OMIM:609192
Wiskott-Aldrich Syndrome	Abnormal eosinophil morphology, Microcytic anemia, Intracranial hemorrhage, Hypoplasia of the thy...	ORPHA:906
Congenital Tracheomalacia	Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Partial anomalous pulmonary ve...	ORPHA:95430
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Hypoplasia of the vagina, Hypospadias, Hypergonadotropic hypogonadism, Enlarged polycystic ovarie...	ORPHA:90796
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome	Fused labia minora, Ambiguous genitalia, female, Abnormality of the uterus, Abnormal vagina morph...	ORPHA:2975
Cystinosis, Nephropathic	Progressive neurologic deterioration, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight...	OMIM:219800
Hennekam Syndrome	Ectopic kidney, Pericardial effusion, Splenomegaly, Pulmonary lymphangiectasia, Horseshoe kidney,...	ORPHA:2136
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Hydroureter, Elevated circulating alpha-fetoprotein concentration, Patent ductus arteriosus, Hype...	ORPHA:280633
Scorpion Envenomation	Bundle branch block, Increased circulating NT-proBNP concentration, Prominent U wave, Hyperglycem...	ORPHA:466677
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Hypoplasia of the uterus, Renal malrotation	OMIM:615866
Osteogenesis Imperfecta, Type I	Aortic aneurysm, Mitral valve prolapse	OMIM:166200
Proteasome-Associated Autoinflammatory Syndrome 1	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Impaired glucose tol...	OMIM:256040
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Spontaneous, recurrent epistaxis, Pancytopenia, Mitral valve calcification, Broad-based gait, Abn...	ORPHA:2072
Rhombencephalosynapsis	Septo-optic dysplasia, Abnormal renal morphology, Ataxia, Abnormality of the uterus	ORPHA:59315
Larsen Syndrome	Atrial septal defect, Cryptorchidism, Ventricular septal defect, Aortic aneurysm	OMIM:150250
Cantú Syndrome	Patent ductus arteriosus, Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly	ORPHA:1517
Microphthalmia With Limb Anomalies	Venous insufficiency, Cryptorchidism, Horseshoe kidney, Microphthalmia, True anophthalmia	ORPHA:1106
46,Xx Gonadal Dysgenesis	Streak ovary, Ataxia, Gonadal dysgenesis, Ambiguous genitalia, Aplasia/hypoplasia of the uterus	ORPHA:243
Boudin-Mortier Syndrome	Aortic root aneurysm, Difficulty walking, Mitral valve prolapse	OMIM:619543
Fucosidosis	Hepatomegaly, Mucopolysacchariduria, Abnormality of the gallbladder, Cardiomegaly	ORPHA:349
Cutis Laxa, Autosomal Recessive, Type Iid	Hypoplastic right heart, Bilateral cryptorchidism, Congestive heart failure, Micropenis, Right bu...	OMIM:617403
Arterial Tortuosity Syndrome	Ventricular hypertrophy, Aortic regurgitation, Carotid artery dissection, Pulmonary artery stenos...	OMIM:208050
Spondylodysplastic Ehlers-Danlos Syndrome	Prominent scalp veins, Abnormal heart valve morphology, Optic nerve hypoplasia, Cryptorchidism, A...	ORPHA:536471
Viss Syndrome	Tortuous cerebral arteries, Epidural hemorrhage, Right ventricular dilatation, Atrial septal defe...	OMIM:619472
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Intellectual Developmental Disorder, Autosomal Dominant 66	Secundum atrial septal defect, Aortic root aneurysm, Transposition of the great arteries, Cerebra...	OMIM:619910
Townes-Brocks Syndrome 1	Bifid scrotum, Multicystic kidney dysplasia, Renal insufficiency, Ventricular septal defect, Hypo...	OMIM:107480
Acrorenal-Mandibular Syndrome	Renal agenesis, Abnormality of the ureter, Uterus didelphys, Aplasia of the bladder, Bicornuate u...	OMIM:200980
Cutis Laxa, Autosomal Recessive, Type Ia	Bladder diverticulum, Ascending tubular aorta aneurysm, Vascular tortuosity, Supravalvular aortic...	OMIM:219100
Biliary, Renal, Neurologic, And Skeletal Syndrome	Conjugated hyperbilirubinemia, Secundum atrial septal defect, Primum atrial septal defect, Inlet ...	OMIM:619534
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Broad-based gait, Uterine prolapse, Bicuspid aortic valve, Ventricular septal defect, Decreased s...	ORPHA:438213
Bloom Syndrome	Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Recurrent urinary tract inf...	ORPHA:125
Hyperlipoproteinemia, Type I	Splenomegaly, Hyperlipidemia, Jaundice, Hepatosplenomegaly, Lactescent serum, Increased circulati...	OMIM:238600
Parenteral Nutrition-Associated Cholestasis	Hepatomegaly, Portal hypertension, Conjugated hyperbilirubinemia, Biliary hyperplasia, Hyperlipid...	ORPHA:567983
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Tricuspid regurgitation, Ventricular septal defect, Optic nerve hypoplasia, Cryptorchidism, Paten...	OMIM:617506
Immunodeficiency 31C	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an...	OMIM:614162
Neu-Laxova Syndrome 1	Ventricular septal defect, Renal agenesis, Bifid uterus, Cryptorchidism, Patent ductus arteriosus...	OMIM:256520
Genitourinary And/Or Brain Malformation Syndrome	Streak ovary, Hypospadias, Cryptorchidism, Uterus didelphys, Urogenital sinus anomaly, Chordee, G...	OMIM:618820
Popliteal Pterygium Syndrome	Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,...	OMIM:119500
Multiple Myeloma	Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Lymphadenopathy, Abno...	ORPHA:29073
Myelofibrosis	Splenomegaly, Myeloproliferative disorder	OMIM:254450
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Hepatomegaly, Splenomegaly, Patent ductus arteriosus, Hydrometrocolpos, Horseshoe kidney, Coarcta...	OMIM:617088
Townes-Brocks Syndrome	Bifid scrotum, Hypoplasia of penis, Ectopic kidney, Abnormality of the uterus, Vesicoureteral ref...	ORPHA:857
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Ataxia, Dilatation of the renal pelvis, Dysmetria, Rectovaginal fistula, Lymphopenia	OMIM:619708
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, Fol...	OMIM:619381
Craniofacial Microsomia 1	Multicystic kidney dysplasia, Anophthalmia, Ventricular septal defect, Renal agenesis, Ectopic ki...	OMIM:164210
Koolen-De Vries Syndrome	Recurrent urinary tract infections, Ventricular septal defect, Bicuspid aortic valve, Cryptorchid...	OMIM:610443
Phace Syndrome	Optic nerve hypoplasia, Cerebral arteriovenous malformation, Lens coloboma, Abnormal heart morpho...	ORPHA:42775
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Hyponatremia, Bifid scrotum, Fused labia majora, Small scrotum, Hypoglycemia, Hypospadias, Crypto...	OMIM:201750
Congenital Heart Defects And Skeletal Malformations Syndrome	Ventricular septal defect, Hypospadias, Cryptorchidism, Coarctation of aorta, Aortic root aneurys...	OMIM:617602
Branchiooculofacial Syndrome	Anophthalmia, Hypospadias, Renal agenesis, Cryptorchidism, Renal cyst, Duplication of internal or...	OMIM:113620
Ulnar-Mammary Syndrome	Hypoplasia of penis, Ventricular septal defect, Cryptorchidism, Renal hypoplasia, Abnormality of ...	ORPHA:3138
Lethal Acantholytic Erosive Disorder	Cardiomyopathy, Hypovolemic shock, Impaired myocardial contractility, Cardiomegaly	ORPHA:158687
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Absent p...	OMIM:600802
Elliptocytosis 1	Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis	OMIM:611804
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Mucosal telangiectasiae, Abnormal thymus morphology, Cardiomegaly	ORPHA:2463
Contractural Arachnodactyly, Congenital	Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Mitral valve prolapse...	OMIM:121050
Blepharophimosis, Ptosis, And Epicanthus Inversus	Hypoplasia of the uterus, Microphthalmia	OMIM:110100
Digeorge Syndrome	Abnormal thymus morphology, Hypoplasia of the thymus, Hypocalcemia, Hepatic steatosis, Patent duc...	OMIM:188400
Ehlers-Danlos Syndrome, Classic-Like, 2	Prominent superficial veins, Carotid artery stenosis, Cryptorchidism, Mitral valve prolapse, Aort...	OMIM:618000
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Optic nerve hypoplasia, Unilateral renal agenesis, Hypoplastic aortic arch, Aplasia of the vagina...	ORPHA:457284
Diaphragmatic Hernia 4, With Cardiovascular Defects	Hepatomegaly, Ventricular septal defect, Optic nerve hypoplasia, Aortopulmonary collateral arteri...	OMIM:620025
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Epistaxis, Increased mean platelet volume, Splenomegaly, Stomatocytosis, Thromb...	OMIM:153670
Norrie Disease	Diabetes mellitus, Aplasia/Hypoplasia of the lens, Venous insufficiency, Cryptorchidism, Hypoplas...	ORPHA:649
Roberts-Sc Phocomelia Syndrome	Accessory spleen, Ventricular septal defect, Hypospadias, Enlarged labia minora, Cryptorchidism, ...	OMIM:268300
Peters Plus Syndrome	Ureteral duplication, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia/aplasia, Crypto...	ORPHA:709
Acrofacial Dysostosis 1, Nager Type	Ventricular septal defect, Unilateral renal agenesis, Patent ductus arteriosus, Bicornuate uterus...	OMIM:154400
Yunis-Varon Syndrome	Ventricular septal defect, Hypospadias, Cardiomegaly, Cryptorchidism, Bilateral microphthalmos, R...	ORPHA:3472
Cutis Laxa, Autosomal Dominant 1	Aortic regurgitation, Ventricular septal defect, Congestive heart failure, Mitral regurgitation, ...	OMIM:123700
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Ataxia, Cardiomegaly, C...	OMIM:300967
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur...	OMIM:233710
Mayer-Rokitansky-Kuster-Hauser Syndrome	Hypoplasia of the uterus, Aplasia of the vagina	OMIM:277000
Cushing Disease	Increased urinary cortisol level, Diabetes mellitus, Impaired glucose tolerance, Myocardial infar...	ORPHA:96253
Secondary Intestinal Lymphangiectasia	Lymphopenia, Right ventricular failure, Reduced circulating transferrin concentration, Chylous as...	ORPHA:90363
Microphthalmia, Syndromic 6	Anophthalmia, Small scrotum, Female hypogonadism, Cryptorchidism, Renal hypoplasia, Microphthalmia	OMIM:607932
Acromesomelic Dysplasia 3	Hypoplasia of the uterus, Hypergonadotropic hypogonadism	OMIM:609441
Meester-Loeys Syndrome	Mitral valve prolapse, Ascending tubular aorta aneurysm, Dilatation of the cerebral artery, Aorti...	OMIM:300989
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur...	OMIM:233690
Classical-Like Ehlers-Danlos Syndrome Type 2	Diabetes mellitus, Hypertriglyceridemia, Carotid artery stenosis, Pericardial effusion, Cryptorch...	ORPHA:536532
Bohring-Opitz Syndrome	Nephroblastoma, Cardiomegaly, Inability to walk, Abnormal cardiac septum morphology, Urinary rete...	ORPHA:97297
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Aortic regurgitation, Bicuspid aortic valve, Muscular ventricular septal defect, Patent ductus ar...	OMIM:612474
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uterus	ORPHA:2736
Immunodeficiency 55	Absent natural killer cells, Lymphopenia, Neutropenia, Lymphadenopathy	OMIM:617827
Cowden Syndrome	Abnormal penis morphology, Endometrial carcinoma, Ataxia, Abnormality of the kidney, Enlarged pol...	ORPHA:201
Acrofacial Dysostosis, Rodríguez Type	Abnormality of the uterus, Renal hypoplasia/aplasia	ORPHA:1788
Johanson-Blizzard Syndrome	Conjugated hyperbilirubinemia, Hepatic fibrosis, Hypocalcemia, Atrial septal defect, Micropenis, ...	OMIM:243800
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Absent external genitalia, Urethral atresia, Aplasia of the vagina, Aplasia of the uterus, Hydron...	OMIM:271520
Peters-Plus Syndrome	Ureteral duplication, Hypoplasia of the vagina, Ventricular septal defect, Bilobate gallbladder, ...	OMIM:261540
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Abnormal reproductive system morphology, Bifid uterus	ORPHA:1521
Classical Ehlers-Danlos Syndrome	Orthostatic hypotension, Arterial dissection, Arterial rupture, Cervical insufficiency, Mitral va...	ORPHA:287
Ehlers-Danlos Syndrome, Classic Type, 1	Aortic root aneurysm, Mitral valve prolapse	OMIM:130000
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Ventricular septal defect, Hypospadias, Congestive heart failure, Patent ductus arteriosus, Horse...	ORPHA:444077
Cushing Syndrome Due To Ectopic Acth Secretion	Increased urinary cortisol level, Pancreatic adenocarcinoma, Diabetes mellitus, Impaired glucose ...	ORPHA:99889
X Small Rings	Ventricular septal defect, Bicuspid aortic valve, Fetal pyelectasis, Aortic root aneurysm, Mitral...	ORPHA:96201
Wolf-Hirschhorn Syndrome	Accessory spleen, Rieger anomaly, Ventricular septal defect, Hypospadias, Precocious puberty, Cry...	OMIM:194190
Coffin-Siris Syndrome 1	Hydroureter, Ventricular septal defect, Hypospadias, Ectopic kidney, Cryptorchidism, Patent ductu...	OMIM:135900
Microphthalmia, Syndromic 1	Anophthalmia, Bicuspid aortic valve, Hypospadias, Hydroureter, Renal hypoplasia/aplasia, Cryptorc...	OMIM:309800
Restrictive Dermopathy	Ureteral duplication, Hypospadias, Dextrocardia, Patent ductus arteriosus, Ascending tubular aort...	ORPHA:1662
Ulnar-Mammary Syndrome	Small scrotum, Ventricular septal defect, Bicornuate uterus, Arrhythmia, Shawl scrotum, Micropeni...	OMIM:181450
Au-Kline Syndrome	Cryptorchidism, Chronic kidney disease, Dilatation of the renal pelvis, Hypertension, Aortic root...	OMIM:616580
Loeys-Dietz Syndrome 5	Ventricular septal defect, Mitral regurgitation, Aortic root aneurysm, Ascending aortic dissectio...	OMIM:615582
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Cognitive impairment, Abnormality of the pancreas, Lymphopenia, Anemia	ORPHA:935
Marfanoid-Progeroid-Lipodystrophy Syndrome	Hypertension, Aortic root aneurysm, Mitral valve prolapse	OMIM:616914
Lacrimoauriculodentodigital Syndrome	Cryptorchidism, Patent ductus arteriosus, Renal hypoplasia, Bicornuate uterus, Vesicoureteral ref...	ORPHA:2363
Hypermobile Ehlers-Danlos Syndrome	Venous insufficiency, Cystocele, Depression, Ascending tubular aorta aneurysm, Arterial dissectio...	ORPHA:285
Waardenburg Syndrome	Abnormal vagina morphology, Abnormality of the uterus	ORPHA:3440
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Hypoplasia of penis, Urethrovaginal fistula, Congenital hepatic fibrosis, Cryptorchidism, Renal h...	ORPHA:93271
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lip telangiectasia, Cardiomegaly	ORPHA:79280
Pallister-Hall Syndrome	Decreased testicular size, Ambiguous genitalia, Small scrotum, Ventricular septal defect, Hypospa...	ORPHA:672
Alström Syndrome	Urinary incontinence, Functional abnormality of the bladder, Hypoplasia of the Leydig cells, Hepa...	ORPHA:64
Phocomelia, Schinzel Type	Cryptorchidism, Hypoplasia of penis, Aplasia of the uterus	ORPHA:2879
Pontocerebellar Hypoplasia Type 7	Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgenesis, Microphallus, Absent penis, Aplasi...	ORPHA:284339
Cutis Laxa, Autosomal Recessive, Type Ib	Arterial tortuosity, Aortic root aneurysm, Generalized arterial tortuosity, Bradycardia, Pulmonar...	OMIM:614437
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Streak ovary, Hypergonadotropic hypogonadism, Non-obstructive azoospermia, Cryptorchidism, Agonad...	ORPHA:2232
Chromosome 1P36 Deletion Syndrome, Distal	Noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Hypospadias, Ecto...	OMIM:607872
Cornelia De Lange Syndrome	Multicystic kidney dysplasia, Hypoplasia of penis, Ventricular septal defect, Hypospadias, Renal ...	ORPHA:199
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Polycystic ovaries	ORPHA:572333
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Aortic root aneurysm	OMIM:615349
Singleton-Merten Syndrome 1	Waddling gait, Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Congestive h...	OMIM:182250
Limb-Mammary Syndrome	Aplasia of the uterus, Aplasia of the ovary	ORPHA:69085
Pallister-Killian Syndrome	Small scrotum, Ventricular septal defect, Hypospadias, Inability to walk, Cryptorchidism, Patent ...	OMIM:601803
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Small scrotum, Hypospadias, Cryptorchidism, Anteriorly displaced genitalia, Aplasia of the uterus	OMIM:276820
Coffin-Lowry Syndrome	Uterine prolapse, Mitral regurgitation	OMIM:303600

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 Asb7

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 Asb7.

No publications found that use IMPC mice or data for Asb7.

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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
Asb7^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Asb7^{em1(IMPC)Ccpcz}	Intra-exon deletion	Mice
Asb7^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Asb7 MGI:2152835

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

X-ray

X-ray

X-ray

X-ray

Human diseases caused by Asb7 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data