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Gene: Pdcd7 MGI:1859170

Gene Summary

Name:

programmed cell death 7

Synonyms:

ES18

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
microphthalmia	Pdcd7^em1(IMPC)Mbp	HET	E15.5	0.00
enlarged spleen	Pdcd7^em1(IMPC)Mbp	HET	Early adult	0.00
decreased circulating serum albumin level	Pdcd7^em1(IMPC)Mbp	HET	Early adult	9.37×10^-06
increased heart rate	Pdcd7^em1(IMPC)Mbp	HET	Early adult	7.87×10^-06
embryonic lethality prior to organogenesis	Pdcd7^em1(IMPC)Mbp	HOM	E9.5	0.00
preweaning lethality, complete penetrance	Pdcd7^em1(IMPC)Mbp	HOM	Early adult	0.00
shortened RR interval	Pdcd7^em1(IMPC)Mbp	HET	Early adult	3.43×10^-05
abnormal placenta morphology	Pdcd7^em1(IMPC)Mbp	HET	E15.5	0.00
abnormal spleen morphology	Pdcd7^em1(IMPC)Mbp	HET	Early adult	0.00
small seminal vesicle	Pdcd7^em1(IMPC)Mbp	HET	Early adult	0.00
small liver	Pdcd7^em1(IMPC)Mbp	HET	Early adult	0.00
abnormal liver morphology	Pdcd7^em1(IMPC)Mbp	HET	Early adult	0.00
increased red blood cell distribution width	Pdcd7^em1(IMPC)Mbp	HET	Early adult	1.94×10^-05
enlarged testis	Pdcd7^em1(IMPC)Mbp	HET	Early adult	0.00
persistence of hyaloid vascular system	Pdcd7^em1(IMPC)Mbp	HET	Early adult	5.67×10^-07

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Gross Morphology Embryo E14.5-E15.5

Images

6 Images

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Human diseases caused by Pdcd7 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 Pdcd7 (0 diseases)
Human diseases predicted to be associated with Pdcd7 (1132 diseases)

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

The table below shows human diseases predicted to be associated to Pdcd7 by phenotypic similarity.

Disease	Matching phenotypes	Source
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Trimethylaminuria	Tachycardia, Splenomegaly, Hypertension, Neutropenia, Anemia	OMIM:602079
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Splenomegaly, Reduced red cell py...	ORPHA:766
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili...	OMIM:619868
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Splenom...	OMIM:616860
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Fetal Cytomegalovirus Syndrome	Splenomegaly, Hepatomegaly, Anemia	ORPHA:294
Anemia, Congenital Dyserythropoietic, Type Ib	Hepatomegaly, Reticulocytosis, Anemia of inadequate production, Anisocytosis, Splenomegaly, Jaund...	OMIM:615631
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Erythroi...	OMIM:613673
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Increased circulating creatine kinase MM isoform, Elevated circulating aspartate aminotransferase...	OMIM:613752
Coproporphyria, Hereditary	Hepatomegaly, Tachycardia, Splenomegaly, Jaundice, Hypertension	OMIM:121300
Hemochromatosis, Type 2B	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Congestive heart failure, Increased ci...	OMIM:613313
Hepatoportal Sclerosis	Elevated hepatic transaminase, Gastrointestinal hemorrhage, Portal hypertension, Nodular regenera...	ORPHA:64743
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Brugada Syndrome	Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment...	ORPHA:130
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anisocytosis, Anemia of inadequate production, Cryptorchidism, Macrothrombocytopenia, Poikilocyto...	ORPHA:67044
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Reduced systolic function, Microcytic anemia, Elevated circulating alanine aminotra...	OMIM:618805
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Splenomegaly, Hepatomegaly	ORPHA:2274
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Microphthalmia, Isolated, With Coloboma 6	Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
Rh Deficiency Syndrome	Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Tachycardia, Anisocytosis, Jaundice, Sphero...	ORPHA:71275
Multifocal Atrial Tachycardia	Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p...	ORPHA:3282
Hemochromatosis, Type 2A	Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Congestive heart failure, Dilated card...	OMIM:602390
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy	Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,...	OMIM:604772
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentratio...	OMIM:308240
Anemia, Congenital Dyserythropoietic, Type Ia	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Anisocytosis, Anemia of inadequate production, S...	OMIM:224120
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3	Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric...	OMIM:614021
His Bundle Tachycardia	Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia	ORPHA:3283
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Microphthalmia, Isolated, With Coloboma 4	Microphthalmia	OMIM:251505
Incessant Infant Ventricular Tachycardia	Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge...	ORPHA:45453
Immunodeficiency 27A	Splenomegaly, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Enlarged mesenteric lymph node, ...	OMIM:209950
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Jaundice, Leukocytosis, Poikilocytosis, Prolonged ne...	OMIM:300908
Hemoglobin H Disease	Hepatomegaly, Hemolytic anemia, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Diarrhea 13	Elevated hepatic transaminase, Hepatic steatosis, Hypoalbuminemia	OMIM:620357
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Elevated circulating C-reactive protein concentration, Diffuse alveolar hemorrhage,...	OMIM:616050
Leishmaniasis	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Spleno...	ORPHA:507
Macrophage Activation Syndrome	Hepatomegaly, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration...	ORPHA:158061
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11	Right ventricular cardiomyopathy, Sudden cardiac death, Syncope, Palpitations, Ventricular arrhyt...	OMIM:610476
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery...	OMIM:603902
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat...	OMIM:616117
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia	ORPHA:46532
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Macroorchidism, Congestive heart failure, Cardiomegaly	OMIM:300886
Immunodeficiency 32B	Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Thrombocytopenia, Impaired oxidative burs...	OMIM:226990
Hyperbilirubinemia, Shunt, Primary	Hepatomegaly, Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Hyperbili...	OMIM:237800
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr...	OMIM:618528
Drug-Induced Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Tachycardia, Splenomegaly, Congestive heart failure, Increased total...	ORPHA:90037
Microphthalmia, Isolated, With Coloboma 7	Microphthalmia	OMIM:614497
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Anisocytosis, Hepatic fibrosis, Hypoparathyroidism, High-output con...	ORPHA:231226
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1	Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death	OMIM:107970
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4	T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr...	OMIM:602087
Gombo Syndrome	Microphthalmia	OMIM:233270
Focal Segmental Glomerulosclerosis 1	Hyperlipidemia, Hypertension, Hypoalbuminemia, Ascites, Anemia	OMIM:603278
Microphthalmia, Isolated, With Coloboma 3	Microphthalmia	OMIM:610092
Rajab Interstitial Lung Disease With Brain Calcifications 2	Elevated hepatic transaminase, Hypertriglyceridemia, Microcytic anemia, Hepatosplenomegaly, Hypoa...	OMIM:619013
Hyperinsulinism Due To Ucp2 Deficiency	Hepatomegaly, Tachycardia, Decreased circulating free fatty acid level, Syncope, Palpitations, Di...	ORPHA:276556
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri...	OMIM:610193
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy...	OMIM:619897
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia	OMIM:251700
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:600649
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production	OMIM:603529
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin sa...	OMIM:615234
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Thrombocytopenia, Hypertension, Second degree...	OMIM:617021
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hepatomegaly, Tachycardia, Decreased circulating free fatty acid level, Syncope, Palpitations, Di...	ORPHA:276575
Congenital Dyserythropoietic Anemia Type Iii	Elevated hepatic transaminase, Anisocytosis, Abnormal erythrocyte morphology, Melena, Increased m...	ORPHA:98870
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3	T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr...	OMIM:602086
Iron-Refractory Iron Deficiency Anemia	Elevated circulating hepcidin concentration, Poikilocytosis, Hypochromic microcytic anemia, Aniso...	OMIM:206200
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5	Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f...	OMIM:604400
Cardiomyopathy, Dilated, 1E	Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio...	OMIM:601154
Acute Peripheral Arterial Occlusion	Myocardial infarction, Abnormal capillary physiology, Leukocytosis, Absent ankle pulse, Supravent...	ORPHA:90064
Familial Peripheral Male-Limited Precocious Puberty	Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism	ORPHA:3000
Cardiomyopathy, Familial Hypertrophic, 16	Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy...	OMIM:613838
Intellectual Developmental Disorder, X-Linked 14	Macroorchidism	OMIM:300062
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increa...	OMIM:267700
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro...	ORPHA:86841
Cardiomyopathy, Dilated, 2F	Increased left ventricular end-diastolic volume, Increased circulating brain natriuretic peptide ...	OMIM:619747
Cardiomyopathy, Familial Hypertrophic, 10	Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert...	OMIM:608758
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Elevated circulating alpha-feto...	OMIM:251880
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2	Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia	OMIM:611938
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome	Macroorchidism	ORPHA:85320
Bile Acid Synthesis Defect, Congenital, 5	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de...	OMIM:616278
Microphthalmia, Isolated, With Coloboma 5	Microphthalmia, Anophthalmia, Bilateral microphthalmos	OMIM:611638
Microphthalmia, Isolated, With Coloboma 10	Microphthalmia, Anophthalmia	OMIM:616428
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12	Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio...	OMIM:611528
Nephrotic Syndrome, Type 7	Hemolytic anemia, Hypoalbuminemia, Thrombocytopenia	OMIM:615008
Atrial Standstill	Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa...	ORPHA:1344
Congenital Disorder Of Glycosylation, Type Ih	Hepatomegaly, Thrombocytopenia, Cryptorchidism, Elevated circulating creatinine concentration, Ch...	OMIM:608104
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4	Cardiac arrest, Sudden cardiac death, Ventricular tachycardia, Premature ventricular contraction,...	OMIM:614916
Cardiomyopathy, Dilated, 1Ii	Increased left ventricular end-diastolic volume, Elevated circulating creatine kinase concentrati...	OMIM:615184
Cholestasis, Progressive Familial Intrahepatic, 12	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili...	OMIM:620010
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Hepatomegaly, Hypertriglyceridemia	OMIM:619175
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hepatomegaly, Tachycardia, Syncope, Palpitations, Diffuse pancreatic islet hyperplasia, Hypertrop...	ORPHA:276580
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Congestive heart failure, Dilat...	ORPHA:367
Hemochromatosis, Type 1	Elevated hepatic transaminase, Hepatomegaly, Hypogonadotropic hypogonadism, Cardiomegaly, Splenom...	OMIM:235200
Partington Syndrome	Macroorchidism, Facial telangiectasia	ORPHA:94083
Refractory Celiac Disease	Elevated hepatic transaminase, Normocytic anemia, Macrocytic anemia, Microcytic anemia, Increased...	ORPHA:398063
Tropical Endomyocardial Fibrosis	Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun...	ORPHA:75565
Alg6-Cdg	Jaundice, Decreased LDL cholesterol concentration, Abnormality of the liver, Hypoalbuminemia, Ret...	ORPHA:79320
Cardiomyopathy, Familial Hypertrophic, 14	Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc...	OMIM:613251
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro...	OMIM:133180
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hepatomegaly, Pulmonary embolism, Iron deficiency anemia, Hypoalbuminemia, Budd-Chiari syndrome, ...	OMIM:226300
Intellectual Developmental Disorder, X-Linked 2	Macroorchidism	OMIM:300428
Congenital Fibrinogen Deficiency	Decreased testicular size, Tachycardia, Hemorrhagic ovarian cyst, Splenic rupture, Left ventricul...	ORPHA:335
Microphthalmia, Isolated 4	Microphthalmia	OMIM:613094
Polyembryoma	Abnormal peritoneum morphology, Abdominal mass, Isosexual precocious puberty, Elevated circulatin...	ORPHA:180229
Congenital Heart Defects, Multiple Types, 3	Tachycardia, Atrial fibrillation, Atrioventricular block, Right bundle branch block, Atrioventric...	OMIM:614954
Hemophagocytic Lymphohistiocytosis, Familial, 2	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Hyponatremia, Hypertriglyceridemia, Sp...	OMIM:603553
Mpi-Cdg	Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Hepatic fibrosis, Decreased liver...	ORPHA:79319
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia	OMIM:206400
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H...	ORPHA:247598
Nanophthalmos 4	Microphthalmia	OMIM:615972
Catecholaminergic Polymorphic Ventricular Tachycardia	Syncope, Ventricular tachycardia, Sudden cardiac death	ORPHA:3286
Carnitine-Acylcarnitine Translocase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Cardiac arrest, Elevated circulating creatine kinase...	OMIM:212138
Cardiomyopathy, Familial Hypertrophic, 12	Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Reduced left ventr...	OMIM:612124
Relapsing Fever	Elevated hepatic transaminase, Tachycardia, Neutrophilia, Epistaxis, Elevated circulating C-react...	ORPHA:91547
Cardiomyopathy, Dilated, 1G	Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A...	OMIM:604145
Hyperinsulinism Due To Hnf1A Deficiency	Hepatomegaly, Tachycardia, Decreased circulating free fatty acid level, Syncope, Palpitations, In...	ORPHA:324575
Long Qt Syndrome 3	Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ...	OMIM:603830
Al Amyloidosis	Gastrointestinal hemorrhage, Hepatomegaly, Abnormal EKG, Increased circulating NT-proBNP concentr...	ORPHA:85443
Nanophthalmos	Microphthalmia	ORPHA:35612
Refractory Anemia With Excess Blasts	Acute myeloid leukemia, Abnormal circulating protein concentration, Anemia of inadequate producti...	ORPHA:86839
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia	OMIM:611038
Long Qt Syndrome 13	Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri...	OMIM:613485
Partial Chromosome Y Deletion	Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato...	ORPHA:1646
Cardiomyopathy, Familial Hypertrophic, 11	Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi...	OMIM:612098
Familial Hemophagocytic Lymphohistiocytosis	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Thromb...	ORPHA:540
Hypertriglyceridemia, Transient Infantile	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis...	OMIM:614480
Idiopathic Neonatal Atrial Flutter	Abnormal EKG, Abnormal atrioventricular conduction, Abnormal left ventricular function, Reduced l...	ORPHA:45452
Atrial Fibrillation, Familial, 15	Supraventricular tachycardia, Atrial flutter, Atrial fibrillation, Sudden cardiac death	OMIM:615770
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency	Supraventricular tachycardia, Cardiomyopathy, Elevated circulating creatine kinase concentration	OMIM:255100
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis, Hyperlipoproteinemia	OMIM:118830
Long Qt Syndrome 15	Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard...	OMIM:616249
Congenital Enterovirus Infection	Abnormal macrophage morphology, Fetal ascites, Thrombocytopenia, Leukocytosis, Myocarditis, Hepat...	ORPHA:292
Autoimmune Hemolytic Anemia, Warm Type	Tachycardia, Autoimmune hemolytic anemia, Splenomegaly, Jaundice, Congestive heart failure, Chron...	ORPHA:90033
Mental retardation, x-linked, syndromic, Turner type	Macroorchidism	OMIM:300706
Analbuminemia	Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Hypoalbu...	OMIM:616000
Congenital Disorder Of Glycosylation, Type Iio	Elevated hepatic transaminase, Hepatomegaly, Decreased circulating ceruloplasmin concentration, E...	OMIM:616828
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ...	ORPHA:846
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Thrombocytopenia, Increased circulati...	OMIM:603552
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Neonatal hyperbilirubinemia, Anemia of inad...	ORPHA:3202
Aicardi-Goutieres Syndrome 9	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hemolytic anemia, Pericarditis, ...	OMIM:619487
Brugada Syndrome 1	Atrial flutter, Atrial fibrillation, Cardiac arrest, Supraventricular tachycardia with an accesso...	OMIM:601144
Primary Membranoproliferative Glomerulonephritis	Hypertension, Hypoalbuminemia, Myocardial infarction	ORPHA:54370
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c...	OMIM:619658
Ventricular Fibrillation, Paroxysmal Familial, 1	Tachycardia, Syncope, Ventricular fibrillation	OMIM:603829
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Hypoalbuminemia, Cardiomegaly	ORPHA:88643
Atrial Septal Defect, Sinus Venosus Type	Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria...	ORPHA:99105
Cardiomyopathy, Dilated, 1P	Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia	OMIM:609909
Paroxysmal Extreme Pain Disorder	Tachycardia, Bradycardia	OMIM:167400
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ...	OMIM:601493
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia	ORPHA:231393
Immunodeficiency 69	Pancytopenia, Splenomegaly, Leukocytosis, Increased circulating ferritin concentration, Hepatospl...	OMIM:618963
Sea-Blue Histiocyte Disease	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating...	OMIM:269600
Dehydrated Hereditary Stomatocytosis 2	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase...	OMIM:616689
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Hyperbilirubinemia, Reticulocytosis, Intermittent jaundice	OMIM:179700
Pyruvate Kinase Deficiency Of Red Cells	Hepatomegaly, Reticulocytosis, Decreased hemoglobin concentration, Reduced red cell pyruvate kina...	OMIM:266200
Cirrhotic Cardiomyopathy	Increased circulating NT-proBNP concentration, Cardiomegaly, Global systolic dysfunction, Hepatom...	ORPHA:57777
Variegate Porphyria	Tachycardia	OMIM:176200
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness	Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent...	OMIM:615441
Ventricular Tachycardia, Familial	Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death	OMIM:192605
Wolcott-Rallison Syndrome	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Hyponatremia, Jaundice, Hyper...	ORPHA:1667
Hypereosinophilic Syndrome, Idiopathic	Hepatomegaly, Eosinophilia, Splenomegaly, Myeloproliferative disorder, Restrictive cardiomyopathy	OMIM:607685
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit...	ORPHA:444463
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Peripartum Cardiomyopathy	Tachycardia, Left ventricular systolic dysfunction, Right ventricular failure, Cardiogenic shock,...	ORPHA:563
Retinitis Pigmentosa And Erythrocytic Microcytosis	Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Anisocytosis, Decreased s...	OMIM:616959
Isolated Follicle Stimulating Hormone Deficiency	Hyperplasia of the Leydig cells, Decreased female libido, Hypogonadotropic hypogonadism, Female h...	ORPHA:52901
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Fryns Microphthalmia Syndrome	Microphthalmia, Anophthalmia, Neural tube defect	OMIM:600776
Non-Functioning Pituitary Adenoma	Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio...	ORPHA:91349
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Congenital Bile Acid Synthesis Defect Type 1	Elevated hepatic transaminase, Hepatomegaly, Gastrointestinal hemorrhage, Splenomegaly, Jaundice,...	ORPHA:79301
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14	Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Presyncope,...	OMIM:618920
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ...	ORPHA:75564
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Prolonged QT interval, Tachycardia, Elevated circula...	ORPHA:26793
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Mitral regurgita...	ORPHA:324410
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8	Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac...	OMIM:607450
Beta-Thalassemia	Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Splenomegaly...	ORPHA:848
Niemann-Pick Disease, Type B	Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow foam cel...	OMIM:607616
Tularemia	Tachycardia, Abnormal nasopharyngeal adenoid morphology, Leukocytosis, Mediastinal lymphadenopath...	ORPHA:3392
Liver Failure, Infantile, Transient	Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Microvesicular hepatic steato...	OMIM:613070
Prolactin Deficiency With Obesity And Enlarged Testes	Macroorchidism, Reduced circulating prolactin concentration	OMIM:264120
Hemangioma-Thrombocytopenia Syndrome	Hyperkalemia, Ventricular arrhythmia, Microangiopathic hemolytic anemia, Thrombocytopenia	OMIM:141000
Splenoportal Vascular Anomalies	Anomalous splenoportal venous system, Splenomegaly, Hyperammonemia, Hepatic fibrosis, Cirrhosis, ...	OMIM:271500
Congenital Disorder Of Glycosylation, Type Ib	Hepatomegaly, Hepatic fibrosis, Hypoalbuminemia, Cirrhosis, Hepatic failure, Lymphangiectasis	OMIM:602579
Nephrotic Syndrome, Type 2	Hyperlipidemia, Hypoalbuminemia	OMIM:600995
Atrial Standstill 1	Ventricular escape rhythm, Atrial cardiomyopathy, Paroxysmal atrial fibrillation, First degree at...	OMIM:108770
Congenital Primary Aphakia	Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia	ORPHA:83461
Long Qt Syndrome 2	Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong...	OMIM:613688
Citrullinemia Type Ii	Elevated hepatic transaminase, Hepatomegaly, Decreased HDL cholesterol concentration, Acute hyper...	ORPHA:247585
Cardiomyopathy, Dilated, 1O	Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co...	OMIM:608569
Anemia, Congenital Dyserythropoietic, Type Ii	Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis	OMIM:224100
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion	OMIM:183350
Fibronectin Glomerulopathy	Hypertension, Hypoalbuminemia, Cerebral hemorrhage	ORPHA:84090
Intellectual Developmental Disorder, X-Linked, Syndromic 11	Macroorchidism	OMIM:300238
Megalencephaly	Macroorchidism, Long penis	ORPHA:2477
Hereditary Coproporphyria	Hyponatremia, Tachycardia, Abnormal circulating porphyrin concentration, Hepatocellular carcinoma...	ORPHA:79273
Cardiomyopathy, Dilated, 1B	Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con...	OMIM:600884
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly	OMIM:619813
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Atrial fibrillation, Cardiac arrest, Dilated cardiomyopathy, Atrioventricular block, Supraventric...	OMIM:612158
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Splenomegaly, Thrombocytopenia, Congestive heart failure, Optic atrophy, Leukopenia...	OMIM:617303
Tyrosinemia Type 1	Acute hepatic failure, Hepatomegaly, Hepatocellular carcinoma, Splenomegaly	ORPHA:882
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu...	OMIM:300835
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Macroorchidism, Congestive heart failure	ORPHA:3077
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Hepatomegaly, Lymphocytosis	OMIM:606445
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy	OMIM:618852
S-Adenosylhomocysteine Hydrolase Deficiency	Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Abnormal circu...	ORPHA:88618
Eosinophilic Gastroenteritis	Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hematochezia, ...	ORPHA:2070
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen...	OMIM:615285
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:52416
Sinoatrial Node Dysfunction And Deafness	Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia	OMIM:614896
Mccune-Albright Syndrome	Hyperplasia of the Leydig cells, Pancytopenia, Elevated circulating growth hormone concentration,...	ORPHA:562
Neonatal Lupus Erythematosus	Elevated hepatic transaminase, Hepatomegaly, Hemolytic anemia, Pancytopenia, Aplastic anemia, Pro...	ORPHA:398124
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Nonspherocytic h...	OMIM:235700
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Increased mitochondrial number, ST segment elevation, Ventricular tachycardia, Right bundle branc...	ORPHA:263297
Snakebite Envenomation	Hyponatremia, Tachycardia, Epistaxis, Myocardial infarction, Intracranial hemorrhage, Cerebral is...	ORPHA:449285
Diarrhea 7, Protein-Losing Enteropathy Type	Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia	OMIM:615863
Acquired Methemoglobinemia	Tachycardia, Syncope, Palpitations, Arrhythmia, Methemoglobinemia	ORPHA:464453
3-Methylglutaconic Aciduria, Type V	Prolonged QT interval, Noncompaction cardiomyopathy, Hypospadias, Elevated circulating aspartate ...	OMIM:610198
Cholestasis-Lymphedema Syndrome	Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundic...	OMIM:214900
Wolff-Parkinson-White Syndrome	Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com...	OMIM:194200
Encephalopathy Due To Prosaposin Deficiency	Splenomegaly, Hepatomegaly	ORPHA:139406
Sandhoff Disease	Splenomegaly, Hepatomegaly, Congestive heart failure	ORPHA:796
Nephrotic Syndrome, Type 15	Hypoalbuminemia	OMIM:617609
Immunodeficiency 16	Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia	OMIM:615593
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Tachycardia, Pancreatic islet-cell hyperplasia	ORPHA:276608
Cardiomyopathy, Dilated, 1R	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:613424
Fragile X Syndrome	Macroorchidism, postpubertal, Congenital macroorchidism	OMIM:300624
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Tachycardia, Eosinophilia,...	ORPHA:98849
Alpha-Heavy Chain Disease	Hepatomegaly, Splenomegaly, Lymphadenopathy, Hypocalcemia, Ascites, Anemia	ORPHA:100025
Primary Intestinal Lymphangiectasia	Hypoproteinemia, Peritoneal effusion, Abnormal lymphatic vessel morphology, Ascites, Hypoalbumine...	ORPHA:90362
Burkitt Lymphoma	Gastrointestinal hemorrhage, Abnormality of the pancreas, Abnormality of the spleen, Abnormal lym...	ORPHA:543
Combined Saposin Deficiency	Splenomegaly, Hepatomegaly, Optic atrophy	OMIM:611721
Left Ventricular Noncompaction 1	Noncompaction cardiomyopathy, Atrial fibrillation, Left ventricular noncompaction cardiomyopathy,...	OMIM:604169
Immunodeficiency 104	Splenomegaly, Hepatomegaly, T lymphocytopenia, Lymphadenopathy	OMIM:608971
Functioning Gonadotropic Adenoma	Macroorchidism, postpubertal, Decreased female libido, Decreased response to growth hormone stimu...	ORPHA:91348
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microphthalmia	ORPHA:2432
Isolated Thyroid-Stimulating Hormone Deficiency	Neonatal hyperbilirubinemia, Pituitary hypothyroidism, Bradycardia, Prolonged neonatal jaundice, ...	ORPHA:90674
Alg1-Cdg	Cardiomyopathy, Hypoalbuminemia, Decreased liver function	ORPHA:79327
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia	OMIM:610539
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Tachycardia, Hypokalemia, Palpitations, Goiter	OMIM:188580
Primary Sclerosing Cholangitis	Acute hepatic failure, Abnormal eosinophil morphology, Spider hemangioma, Hepatic fibrosis, Hypoa...	ORPHA:171
Long Qt Syndrome 6	Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong...	OMIM:613693
17Q11.2 Microduplication Syndrome	Macroorchidism	ORPHA:139474
Galactosemia Iii	Splenomegaly, Hepatomegaly, Jaundice, Hypergalactosemia	OMIM:230350
Portal Hypertension, Noncirrhotic, 1	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:617068
Jervell And Lange-Nielsen Syndrome 1	Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval	OMIM:220400
Gray Platelet Syndrome	Splenomegaly, Epistaxis, Thrombocytopenia, Abnormality of the menstrual cycle	ORPHA:721
Congenital Disorder Of Glycosylation, Type It	Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Elevated circulating aspartate aminotra...	OMIM:614921
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Elevated hepatic transaminase, Hypertyrosinemia, Conjugated hyperbilirubinemia, Microvesicular he...	OMIM:617156
Atkin-Flaitz Syndrome	Macroorchidism	ORPHA:1193
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:610293
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	Right ventricular cardiomyopathy, Prolonged QRS complex, Cardiac arrest, Sudden cardiac death, Ve...	OMIM:609040
Primary Biliary Cholangitis	Orthostatic hypotension, Abnormal circulating lipid concentration, Portal hypertension, Conjugate...	ORPHA:186
Cholestasis, Progressive Familial Intrahepatic, 3	Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, Po...	OMIM:602347
Beta-Thalassemia Intermedia	Extramedullary hematopoiesis, Abnormality of the liver, Elevated hepatic iron concentration, Eryt...	ORPHA:231222
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Macrocytic anemia, Pancytopenia, Tachycardia, Megaloblastic anemia, Anisopoikilo...	ORPHA:35858
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Decreased circu...	OMIM:242150
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Tachycardia, Hypoproteinemia	OMIM:221400
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypercholesterolemia, Hypoalbuminemia	ORPHA:94124
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Lymphadenopathy...	OMIM:613101
Long Qt Syndrome 9	Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a...	OMIM:611818
Cholestasis-Lymphedema Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormali...	ORPHA:1414
Trichohepatoenteric Syndrome 1	Aortic regurgitation, Hepatomegaly, Hypospadias, Increased mean platelet volume, Splenomegaly, Ab...	OMIM:222470
Complete Atrioventricular Septal Defect	Hepatomegaly, Abnormal EKG, Left-to-right shunt, Tachycardia, Cardiomegaly, Right ventricular fai...	ORPHA:1329
Wilson Disease	Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Hypoalbuminemia, Hepati...	OMIM:277900
Coenzyme Q10 Deficiency, Primary, 3	Hypoalbuminemia	OMIM:614652
Jervell And Lange-Nielsen Syndrome	Iron deficiency anemia, Syncope, Torsade de pointes, Arrhythmia, Prolonged QTc interval, Ventricu...	ORPHA:90647
47,Xyy Syndrome	Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo...	ORPHA:8
Polycythemia Vera	Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi...	OMIM:263300
Focal Segmental Glomerulosclerosis 6	Hypoalbuminemia	OMIM:614131
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypercholesterolemia, Hypoalbuminemia	OMIM:607250
Overhydrated Hereditary Stomatocytosis	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Pulmonary embolism, Splenomegaly, Jaundice, Stom...	OMIM:185000
Intellectual Developmental Disorder, X-Linked 21	Macroorchidism	OMIM:300143
Alpha-1-Antitrypsin Deficiency	Elevated hepatic transaminase, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Reduced serum a...	OMIM:613490
Gaucher Disease Type 2	Splenomegaly, Hepatomegaly, Cardiac arrest	ORPHA:77260
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia, Cho...	OMIM:182900
Nephrotic Syndrome, Type 9	Hypoalbuminemia	OMIM:615573
Sepsis In Premature Infants	Hepatomegaly, Tachycardia, Elevated circulating C-reactive protein concentration, Splenomegaly, J...	ORPHA:90051
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Hepatomegaly, Anisocytosis	OMIM:604273
Adams-Oliver Syndrome 4	Microphthalmia, Umbilical hernia	OMIM:615297
Amoebiasis Due To Entamoeba Histolytica	Elevated hepatic transaminase, Liver abscess, Congestive heart failure, Leukocytosis, Hypoalbumin...	ORPHA:67
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Hepatomegaly, Reticulocytosis, Splenomegaly, Jaundice, Increased circulating ferritin concentrati...	OMIM:194380
Malignant Hyperthermia, Susceptibility To, 1	Tachycardia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia,...	OMIM:145600
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Anisocytosis, Cardiomegaly, Microvesicular hepat...	OMIM:618278
Congenital Enterocyte Heparan Sulfate Deficiency	Hematochezia, Abnormal circulating polysaccharide concentration, Hypoalbuminemia, Abnormal circul...	ORPHA:103910
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Hyperalaninemia, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Con...	OMIM:619048
Lipodystrophy, Congenital Generalized, Type 4	Elevated hepatic transaminase, Hepatomegaly, Prolonged QT interval, Tachycardia, Atrial fibrillat...	OMIM:613327
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Elevated hepatic transaminase, Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevat...	ORPHA:158057
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbilirubinemia, Int...	OMIM:617093
Reni Syndrome	Hypertriglyceridemia, Cryptorchidism, Hypogonadism, Hypoalbuminemia, Micropenis, Lymphopenia	OMIM:617575
Cardiomyopathy, Familial Hypertrophic, 17	Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Palpitations, Left ventricular hyp...	OMIM:613873
Romano-Ward Syndrome	Sudden cardiac death, Sinus bradycardia, Hypokalemia, Syncope, Torsade de pointes, Abnormal T-wav...	ORPHA:101016
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Tachycardia, Syncope, Premature ventricular contraction	OMIM:192445
Coronary Arterial Fistula	Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect...	ORPHA:2041
Atrial Fibrillation, Familial, 18	Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio...	OMIM:617280
Leber Hereditary Optic Neuropathy	Arrhythmia, Optic atrophy, Ventricular preexcitation, Retinal telangiectasia	ORPHA:104
Cholesteryl Ester Storage Disease	Acute hepatic failure, Decreased HDL cholesterol concentration, Bone-marrow foam cells, Leukopeni...	OMIM:278000
Avian Influenza	Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Elevated circu...	ORPHA:454836
Myotonic Dystrophy 2	Tachycardia, Elevated circulating creatine kinase concentration, Premature ventricular contractio...	OMIM:602668
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Atrial fibrillation, C...	ORPHA:137675
Combined Oxidative Phosphorylation Deficiency 37	Elevated hepatic transaminase, Optic atrophy, Bile duct proliferation, Macrovesicular hepatic ste...	OMIM:618329
Carnitine-Acylcarnitine Translocase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated creatine kinase after exercise, Elevated ci...	ORPHA:159
Progressive Familial Intrahepatic Cholestasis	Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Hypocalcemia	ORPHA:172
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Splenomegaly, Hepatomegaly, Fetal ascites	OMIM:619462
Harderoporphyria	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Increased circulating ferritin con...	OMIM:618892
Cardiomyopathy, Familial Hypertrophic, 6	Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail...	OMIM:600858
Bacterial Toxic-Shock Syndrome	Shock, Tachycardia, Elevated circulating creatine kinase concentration, Myocarditis, Peritonitis,...	ORPHA:36234
Erythroderma, Lethal Congenital	Hypoalbuminemia	OMIM:227090
Combined Oxidative Phosphorylation Deficiency 54	Optic disc pallor, Tachycardia, Hypergonadotropic hypogonadism, Primary amenorrhea	OMIM:619737
Long Qt Syndrome 1	Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,...	OMIM:192500
Mirizzi Syndrome	Elevated hepatic transaminase, Tachycardia, Pancreatitis, Jaundice, Cholesterol gallstones, Hyper...	ORPHA:521219
Abetalipoproteinemia	Elevated hepatic transaminase, Hepatomegaly, Reticulocytosis, Abnormality of retinal pigmentation...	ORPHA:14
Ras-Associated Autoimmune Leukoproliferative Disorder	Hepatomegaly, Pancytopenia, Hemolytic anemia, Autoimmune thrombocytopenia, Follicular hyperplasia...	OMIM:614470
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest...	OMIM:619849
Glycogen Storage Disease Xv	ST segment elevation, Right bundle branch block, Paroxysmal ventricular tachycardia, T-wave inver...	OMIM:613507
Microphthalmia, Isolated 6	Microphthalmia	OMIM:613517
Cholesteryl Ester Storage Disease	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Cirrhosis, Hypercholesterolemia, Hepa...	ORPHA:75234
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Epistaxis, Increased mean pl...	OMIM:314050
Mixed-Type Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Tachycardia, Increased total bilirubin	ORPHA:90036
Congenital Disorder Of Glycosylation, Type Ik	Splenomegaly, Hepatomegaly, Hypogonadism, Cardiomyopathy	OMIM:608540
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a...	ORPHA:300751
Immunodeficiency 43	Decreased circulating beta-2-microglobulin level, B lymphocytopenia, Hypoalbuminemia, Reduced nat...	OMIM:241600
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypertriglyceridemia, Pulmonary embolism, Peritonitis, Hypoalbuminemia, Hypercholesterolemia, Abn...	ORPHA:567548
Fish-Eye Disease	Hepatomegaly, Decreased HDL cholesterol concentration, Angina pectoris, Splenomegaly, Lymphadenop...	ORPHA:79292
X-Linked Intellectual Disability, Shashi Type	Macroorchidism	ORPHA:85286
Porphyria Variegata	Elevated hepatic transaminase, Hyponatremia, Tachycardia, Abnormal circulating porphyrin concentr...	ORPHA:79473
Familial Short Qt Syndrome	Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope...	ORPHA:51083
Immunodeficiency 42	Splenomegaly, Hepatomegaly, Hypoplasia of the thymus	OMIM:616622
Marburg Hemorrhagic Fever	Elevated circulating creatine kinase concentration, Leukopenia, Hypoalbuminemia, Abnormal lymphoc...	ORPHA:99826
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Abnormality of retinal pigmentation, Tachycardia, Tricuspid regurgitation, Congestive heart failu...	ORPHA:505248
Sick Sinus Syndrome 2	Aortic regurgitation, Atrial fibrillation, Paroxysmal atrial fibrillation, Cardiac arrest, Sudden...	OMIM:163800
Congenitally Uncorrected Transposition Of The Great Arteries	Hepatomegaly, Tachycardia, Cardiac shunt, Cardiomegaly, Congestive heart failure, Left ventricula...	ORPHA:860
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hyponatremia, Endometrial carcinoma, Adrenal hyperplasia, Jaundice, Male pseudohermaphroditism, H...	ORPHA:90790
Danon Disease	Wolff-Parkinson-White syndrome, Elevated circulating creatine kinase concentration, Cardiomegaly,...	OMIM:300257
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib...	OMIM:613812
Generalized Pustular Psoriasis	Elevated hepatic transaminase, Hyponatremia, Elevated circulating C-reactive protein concentratio...	ORPHA:247353
Lipodystrophy, Congenital Generalized, Type 3	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Primary amenorrhea, Hepatosplenomegaly, Hypocal...	OMIM:612526
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Splenomegaly, Thrombocytopenia, Optic atrophy, Hyperammonemia, Cardiomyopathy, Neut...	ORPHA:79312
Facial Clefting, Oblique, 1	Microphthalmia	OMIM:600251
X-Linked Sideroblastic Anemia	Elevated hepatic transaminase, Splenomegaly, Abnormality of iron homeostasis, Anemia	ORPHA:75563
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Congestive heart failure, Anemia	ORPHA:163596
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome	Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Torsade de pointes, Ventricu...	OMIM:115000
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
Fragile X Syndrome	Macroorchidism	ORPHA:908
Clark-Baraitser syndrome	Macroorchidism	OMIM:300602
Brugada Syndrome 8	Right bundle branch block, ST segment elevation, Ventricular tachycardia	OMIM:613123
Isolated Splenogonadal Fusion	Abnormal penis morphology, Unilateral cryptorchidism, Elevated circulating alpha-fetoprotein conc...	ORPHA:457083
Pheochromocytoma--Islet Cell Tumor Syndrome	Tachycardia, Hypercalcemia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension,...	OMIM:171420
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Abnormal circulating fatty-acid concent...	ORPHA:263455
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Anemia	ORPHA:100024
16P12.1P12.3 Triplication Syndrome	Abnormal intrahepatic bile duct morphology, Bilateral cryptorchidism, Tachycardia, Decreased resp...	ORPHA:485405
Aromatase Deficiency	Macroorchidism, postpubertal, Male infertility, Hypergonadotropic hypogonadism, Female infertilit...	ORPHA:91
Cardiomyopathy, Dilated, 1A	Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, C...	OMIM:115200
Mitochondrial Complex I Deficiency, Nuclear Type 11	Wolff-Parkinson-White syndrome, Hepatomegaly, Congestive heart failure, Pigmentary retinopathy, M...	OMIM:618234
Ménétrier Disease	Gastrointestinal hemorrhage, Hypoproteinemia, Hypoalbuminemia, Hypochromic microcytic anemia	ORPHA:2494
Portal Hypertension, Noncirrhotic, 2	Elevated hepatic transaminase, Hepatomegaly, Epistaxis, Portal hypertension, Nodular regenerative...	OMIM:619463
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol...	OMIM:616217
Galactose Epimerase Deficiency	Splenomegaly, Hepatomegaly, Jaundice	ORPHA:79238
Foveal Hypoplasia 2	Hypoplasia of the fovea, Microphthalmia	OMIM:609218
Erythrocytosis, Familial, 1	Myocardial infarction, Cerebral hemorrhage, Splenomegaly, Increased hemoglobin, Increased red blo...	OMIM:133100
Galloway-Mowat Syndrome 6	Hypoalbuminemia, Decreased response to growth hormone stimulation test	OMIM:618347
Amyloidosis, Familial Visceral	Splenomegaly, Hepatomegaly, Hypertension, Cholestasis	OMIM:105200
Congenital Varicella Syndrome	Microphthalmia	ORPHA:291
Xp22.13P22.2 Duplication Syndrome	Macroorchidism, Polycystic ovaries	ORPHA:284180
Testicular Regression Syndrome	Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male...	ORPHA:983
Microphthalmia, Isolated, With Corectopia	Microphthalmia	OMIM:156900
Car T Cell Therapy-Associated Cytokine Release Syndrome	Elevated hepatic transaminase, Tachycardia, Heart block, Elevated circulating creatinine concentr...	ORPHA:542323
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Elevated hepatic transaminase, Cardiac arrest, Premature thelarche, Elevated circulating creatine...	OMIM:616878
Thiamine-Responsive Megaloblastic Anemia Syndrome	Cardiac arrest, Megaloblastic anemia, Paroxysmal atrial tachycardia, Congestive heart failure, Op...	ORPHA:49827
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Aplastic anemia, Splenomegaly, Increased circul...	OMIM:300635
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma...	ORPHA:288
Carney Triad	Gastrointestinal hemorrhage, Tachycardia, Mediastinal lymphadenopathy, Lymphadenopathy, Hypertens...	ORPHA:139411
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13	Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block	OMIM:615616
Lujan-Fryns Syndrome	Macroorchidism	ORPHA:776
Hereditary Pulmonary Alveolar Proteinosis	Abnormal circulating protein concentration, Tachycardia, Elevated carcinoembryonic antigen level	ORPHA:264675
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbi...	OMIM:616649
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count...	OMIM:612690
Glut1 Deficiency Syndrome 2	Splenomegaly, Hemolytic anemia, Reduced haptoglobin level, Reticulocytosis	OMIM:612126
Immunodeficiency 48	Splenomegaly, Hepatomegaly, Absence of CD8-positive T cells	OMIM:269840
Congenital Myopathy 5 With Cardiomyopathy	Elevated circulating creatine kinase concentration, Sudden cardiac death, Congestive heart failur...	OMIM:611705
Galloway-Mowat Syndrome 8	Hypoalbuminemia	OMIM:618349
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Elevated circulating creatine kinase concentration, Abnormal left ventricula...	ORPHA:99827
Chronic Bilirubin Encephalopathy	Hemolytic anemia, Hypoalbuminemia, Prolonged neonatal jaundice, Hypernatremia, Neonatal hyperbili...	ORPHA:529808
Acute Bilirubin Encephalopathy	Hemolytic anemia, Hypoalbuminemia, Prolonged neonatal jaundice, Hypernatremia, Neonatal hyperbili...	ORPHA:529799
Osteopetrosis, Autosomal Recessive 8	Hepatomegaly, Splenomegaly, Optic atrophy, Anemia, Thrombocytopenia	OMIM:615085
Neonatal Severe Primary Hyperparathyroidism	Splenomegaly, Hepatomegaly	ORPHA:417
Cardiomyopathy, Familial Hypertrophic, 8	Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave inversion, Reduced left ve...	OMIM:608751
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia	OMIM:612653
Sickle Cell Anemia	Pigment gallstones, Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the sple...	ORPHA:232
Craniotelencephalic Dysplasia	Microphthalmia, Frontal encephalocele, Optic nerve hypoplasia	OMIM:218670
Spastic Paraplegia-Precocious Puberty Syndrome	Hyperplasia of the Leydig cells, Precocious puberty in males	ORPHA:2826
Chylomicron Retention Disease	Hypotriglyceridemia, Hypoalbuminemia, Decreased LDL cholesterol concentration, Hypocholesterolemia	OMIM:246700
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Epistaxis, Splenomegaly, Leukocytosis, Hepatosplenome...	OMIM:612840
Cerebrooculofacioskeletal Syndrome 3	Microphthalmia	OMIM:616570
Aicardi-Goutieres Syndrome 6	Splenomegaly, Hepatomegaly, Hemolytic anemia, Thrombocytopenia	OMIM:615010
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly...	OMIM:615559
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis	ORPHA:66661
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Cryptorchidism, Hematochezia, Coloboma, Hypoalbuminemia, Hypo...	OMIM:618183
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Tachycardia, Hypokalemia, Goiter	OMIM:613239
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A...	OMIM:601859
Mcleod Syndrome	Hepatomegaly, Atrial fibrillation, Elevated circulating aspartate aminotransferase concentration,...	OMIM:300842
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Cholangiocarcinoma, Hypogonadotropic hypogonadism, Portal hypertension, Cardiomegal...	ORPHA:465508
Schnitzler Syndrome	Hepatomegaly, Splenomegaly, Leukocytosis, Vasculitis, Lymphadenopathy, Anemia	ORPHA:37748
Jervell And Lange-Nielsen Syndrome 2	Prolonged QT interval, Sudden cardiac death, Premature ventricular contraction, Syncope, Torsade ...	OMIM:612347
Babesiosis	Hepatomegaly, Hemolytic anemia, Myocardial infarction, Splenomegaly, Jaundice, Congestive heart f...	ORPHA:108
Long Qt Syndrome 5	Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven...	OMIM:613695
Mmep Syndrome	Microphthalmia	ORPHA:3434
Glycogen Storage Disease Ixa1	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hyperuricemia, H...	OMIM:306000
Short Qt Syndrome 3	Shortened QT interval, Tachycardia, Palpitations	OMIM:609622
Graft Versus Host Disease	Elevated hepatic transaminase, Tachycardia, Jaundice, Chronic hepatitis, Hepatosplenomegaly, Lymp...	ORPHA:39812
Congenital Disorder Of Glycosylation, Type Ia	Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Premature ovarian insufficiency, Hyper...	OMIM:212065
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Macroorchidism, Male hypogonadism	OMIM:300055
Cholestasis, Progressive Familial Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Epistaxis, Conjugated hyperbilirub...	OMIM:211600
Fructose-1,6-Bisphosphatase Deficiency	Hepatomegaly, Tachycardia	OMIM:229700
Timothy Syndrome	Prolonged QT interval, Cardiomegaly, Ventricular tachycardia, Atrioventricular block, Bradycardia...	OMIM:601005
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase...	OMIM:617514
Cardiomyopathy, Familial Hypertrophic, 25	Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome	OMIM:607487
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Hypertension, Tachycardia, Micropenis	OMIM:613870
Juvenile Neuronal Ceroid Lipofuscinosis	Optic disc pallor, Tachycardia, Pigmentary retinopathy, Retinal degeneration	ORPHA:79264
Pheochromocytoma/Paraganglioma Syndrome 3	Tachycardia, Extraadrenal pheochromocytoma, Adrenal pheochromocytoma, Palpitations, Hypertension ...	OMIM:605373
Glycogen Storage Disease Ixb	Splenomegaly, Hepatomegaly, Increased hepatic glycogen content, Hyperuricemia	OMIM:261750
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:86893
Naxos Disease	Sudden cardiac death, Congestive heart failure, Cardiomyopathy, Paroxysmal ventricular tachycardi...	ORPHA:34217
Fructose-1,6-Bisphosphatase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Hyperuricemia, Hyperalaninemia, Hepatic...	ORPHA:348
Microphthalmia, Isolated 8	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia	OMIM:615113
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein ...	OMIM:613011
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Elevated hepatic transaminase, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenome...	ORPHA:37042
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic failure, Hepatic bridging fibrosis	OMIM:616719
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Microphthalmia	OMIM:120433
Congenital Lethal Erythroderma	Hypoalbuminemia	ORPHA:1954
Chronic Atrial And Intestinal Dysrhythmia	Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Mitral regurgitation, Sick sinus ...	OMIM:616201
Osteopetrosis, Autosomal Recessive 4	Hepatomegaly, Reticulocytosis, Optic disc pallor, Splenomegaly, Thrombocytopenia, Optic atrophy, ...	OMIM:611490
Sickle Cell Disease	Hepatomegaly, Hemolytic anemia, Cardiomegaly, Splenomegaly, Jaundice, Splenic infarction, Leukocy...	OMIM:603903
Renal Nutcracker Syndrome	Dyspareunia, Orthostatic hypotension, Tachycardia, Dysmenorrhea, Vulval varicose vein, Syncope, I...	ORPHA:71273
Ghosal Hematodiaphyseal Dysplasia	Splenomegaly, Anemia	ORPHA:1802
Orotic Aciduria	Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemi...	OMIM:258900
Microcephaly-Microcornea Syndrome, Seemanova Type	Microphthalmia	ORPHA:2528
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia	Sick sinus syndrome, Bradycardia, Retinal degeneration	OMIM:617173
Gaucher Disease, Type I	Hepatomegaly, Pancytopenia, Epistaxis, Macular atrophy, Hypersplenism, Splenomegaly, Anemia, Hype...	OMIM:230800
Naxos Disease	Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Cardiomegaly, Cong...	OMIM:601214
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Highly elevated creatine kinase, Hypertrophic cardiomyopathy, Tachycardia, Elevated circulating c...	ORPHA:368
Infant Acute Respiratory Distress Syndrome	Tachycardia, Bradycardia, Cardiac arrest, Hypotension	ORPHA:70587
Beta-Thalassemia Major	Extramedullary hematopoiesis, Hepatic fibrosis, Hypoparathyroidism, Hepatomegaly, Anemia of inade...	ORPHA:231214
Hyperthyroidism, Familial Gestational	Tachycardia	OMIM:603373
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple...	OMIM:613470
Neuroleptic Malignant Syndrome	Elevated hepatic transaminase, Hyponatremia, Tachycardia, Hypertensive crisis, Elevated circulati...	ORPHA:94093
Long Qt Syndrome 14	Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT...	OMIM:616247
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration	OMIM:208920
Tako-Tsubo Cardiomyopathy	Prolonged QTc interval, Mildly elevated creatine kinase, Mildly reduced left ventricular ejection...	ORPHA:66529
Hereditary Spherocytosis	Hepatomegaly, Reticulocytosis, Extramedullary hematopoiesis, Spontaneous hemolytic crises, Restri...	ORPHA:822
Glycogen Storage Disease Ixc	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Bile duct prolif...	OMIM:613027
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia	OMIM:614830
Eisenmenger Syndrome	Elevated circulating C-reactive protein concentration, Ventricular tachycardia, Iron deficiency a...	ORPHA:97214
Osteopetrosis, Autosomal Dominant 3	Splenomegaly, Hepatomegaly, Hyperparathyroidism, Anemia	OMIM:618107
Xeroderma Pigmentosum, Complementation Group G	Microphthalmia	OMIM:278780
Craniotelencephalic Dysplasia	Microphthalmia, Septo-optic dysplasia, Frontal encephalocele	ORPHA:1528
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Hypoplasia of penis, Hypospadias, Splenomegaly, Ascites, Anemia	ORPHA:1046
Genetic Steroid-Resistant Nephrotic Syndrome	Peritonitis, Hypoalbuminemia	ORPHA:656
Brugada Syndrome 3	Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar...	OMIM:611875
High Altitude Pulmonary Edema	Leukocytosis, Tachycardia	ORPHA:330012
Stiff-Person Syndrome	Hypertension, Tachycardia, Anemia	OMIM:184850
Cardiomyopathy, Dilated, 1Nn	Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D...	OMIM:615916
Sick Sinus Syndrome 1	Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br...	OMIM:608567
Long Qt Syndrome 12	Syncope, Prolonged QTc interval, Ventricular fibrillation, Torsade de pointes	OMIM:612955
Infantile Sialic Acid Storage Disease	Hepatomegaly, Cardiomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Congestive heart failure...	OMIM:269920
Bile Acid Synthesis Defect, Congenital, 1	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Conjugated hyperbilirubinemia,...	OMIM:607765
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Intrahepatic cholestasis, Intermittent...	OMIM:601847
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome	Macroorchidism, Elevated circulating growth hormone concentration	ORPHA:85327
Tetanus	Hypertension, Tachycardia, Bradycardia, Elevated circulating creatine kinase concentration	ORPHA:3299
45,X/46,Xy Mixed Gonadal Dysgenesis	Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit...	ORPHA:1772
Nephrotic Syndrome, Type 11	Hypercholesterolemia, Dilated cardiomyopathy, Hypoalbuminemia	OMIM:616730
Xfe Progeroid Syndrome	Elevated hepatic transaminase, Premature ovarian insufficiency, Optic atrophy, Hypertension, Hypo...	OMIM:610965
Nephrotic Syndrome, Type 6	Hypoalbuminemia	OMIM:614196
Nephrotic Syndrome, Type 3	Hypoalbuminemia	OMIM:610725
Aicardi-Goutieres Syndrome 4	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Thro...	OMIM:610333
Pheochromocytoma/Paraganglioma Syndrome 1	Tachycardia, Extraadrenal pheochromocytoma, Adrenal pheochromocytoma, Palpitations, Hypertension ...	OMIM:168000
Tangier Disease	Decreased circulating apolipoprotein A-I concentration, Hepatomegaly, Decreased HDL cholesterol c...	OMIM:205400
Double Outlet Right Ventricle	Hypoparathyroidism, Tachycardia, Heart murmur, Hypocalcemia, Pulmonic stenosis, Aplasia/Hypoplasi...	ORPHA:3426
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Macroorchidism, Hypospadias, Iris coloboma	OMIM:618874
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Splenomegaly, Hepatomegaly, Vasculitis in the skin, Anemia	OMIM:620296
Scorpion Envenomation	Bundle branch block, Acute pancreatitis, Tachycardia, Increased circulating NT-proBNP concentrati...	ORPHA:466677
Caroli Disease	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Conjugated hyp...	ORPHA:53035
Glycogen Storage Disease Xii	Normocytic anemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly...	OMIM:611881
Immunodeficiency 84	Splenomegaly, B lymphocytopenia	OMIM:619437
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye...	ORPHA:2585
Congenital Pulmonary Lymphangiectasia	Hepatomegaly, Tricuspid regurgitation, Splenomegaly, Congestive heart failure, Pulmonic stenosis,...	ORPHA:2414
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenom...	OMIM:619375
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Generalized lymphadenopathy, Hypertriglyceridemia, Splenomegaly, Absent circulating...	OMIM:620282
Bile Acid Synthesis Defect, Congenital, 2	Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, Hy...	OMIM:235555
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Pericarditis, Elevated circulating C-reactive protein concentration, Splenomegaly, ...	ORPHA:85414
Congenital Analbuminemia	Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Low pulse pressure, Hypercholesterolem...	ORPHA:86816
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomega...	ORPHA:567983
Alg12-Cdg	Elevated hepatic transaminase, Retinal detachment, Hyponatremia, Hypospadias, Cryptorchidism, B l...	ORPHA:79324
Adult-Onset Still Disease	Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Generalized lymphadenopathy, Neutrophi...	ORPHA:829
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia	OMIM:267760
Cataract 9, Multiple Types	Microphthalmia	OMIM:604219
Autoimmune Lymphoproliferative Syndrome, Type Iia	Gastrointestinal hemorrhage, Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lym...	OMIM:603909
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Dysmenorrhea, Elevated circula...	ORPHA:264580
Cardiomyopathy, Dilated, 1D	Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Incr...	OMIM:601494
Secondary Intestinal Lymphangiectasia	Right ventricular failure, Decreased prealbumin level, Reduced circulating transferrin concentrat...	ORPHA:90363
Malignant Hyperthermia Of Anesthesia	Acute hepatic failure, High-output congestive heart failure, Ventricular tachycardia, Hyperkalemi...	ORPHA:423
Rajab Interstitial Lung Disease With Brain Calcifications 1	Elevated hepatic transaminase, Pancytopenia, Small scrotum, Portal hypertension, Cholestasis, Bil...	OMIM:613658
Dihydropyrimidine Dehydrogenase Deficiency	Microphthalmia	OMIM:274270
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt...	OMIM:615513
Hydroxykynureninuria	Abnormal circulating tryptophan concentration, Tachycardia, Hypotension	ORPHA:79155
Cardiomyopathy, Dilated, 1Y	Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact...	OMIM:611878
Pparg-Related Familial Partial Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Dysmenorrhea, Splenomegaly, Congestive heart failure, Seconda...	ORPHA:79083
Transaldolase Deficiency	Hepatomegaly, Pancytopenia, Clitoral hypertrophy, Splenomegaly, Micronodular cirrhosis, Thrombocy...	OMIM:606003
Primary Myelofibrosis	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Splenomegaly, Leuk...	ORPHA:824
Ataxia-Oculomotor Apraxia 4	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration	OMIM:616267
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Porphyria, Acute Intermittent	Hypertension, Tachycardia, Hepatocellular carcinoma	OMIM:176000
Griscelli Syndrome Type 2	Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Hyperlipidemia, Lymphadenopathy, Hemophagocyt...	ORPHA:79477
Cardiomyopathy, Familial Hypertrophic, 7	Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Atrial fibrillation, Apical hypertro...	OMIM:613690
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis	ORPHA:59303
Immunodeficiency 76	Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia	OMIM:619164
Typhoid	Gastrointestinal hemorrhage, Hepatomegaly, Epistaxis, Cardiac arrest, Splenomegaly, Arrhythmia	ORPHA:99745
Microphthalmia, Syndromic 12	Microphthalmia, Anophthalmia	OMIM:615524
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Pulmonary embolism, Hyperlipidemia, Hydrocele testis, Hypertension, Hypoalbuminemia, Ascites	ORPHA:567546
Hurler-Scheie Syndrome	Splenomegaly, Hepatomegaly, Abnormality of the tonsils, Cardiomyopathy	ORPHA:93476
Nephrotic Syndrome, Type 1	Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia	OMIM:256300
Fanconi Anemia, Complementation Group J	Microphthalmia	OMIM:609054
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Microphthalmia, Occipital encephalocele	ORPHA:324416
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Pericardial lymphangiectasia, Thyroid lymphangiectasia, Cryptorchidism, Pulmonary lymphangiectasi...	OMIM:235510
Andersen-Tawil Syndrome	Prolonged QT interval, Bidirectional ventricular ectopy, Polymorphic ventricular tachycardia, Dil...	ORPHA:37553
Insulin-Resistance Syndrome Type B	Enlarged ovaries, Abnormal circulating lipid concentration, Enlarged polycystic ovaries, Abnormal...	ORPHA:2298
Long Qt Syndrome 8	Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int...	OMIM:618447
Follicular Lymphoma	Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:545
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop...	OMIM:603554
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration...	OMIM:207750
Cystic Echinococcosis	Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Hepatic cysts, Eosin...	ORPHA:400
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Splenomegaly, Hepatomegaly	ORPHA:2204
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevat...	ORPHA:64753
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Microphthalmia	OMIM:610023
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Persistent fetal circulation, Papilledema, Elevated circulating creatine kinase concentration, No...	OMIM:618775
Smith-Lemli-Opitz Syndrome	Bifid scrotum, Small scrotum, Hypoalbuminemia, Hypocholesterolemia, Micropenis, Hepatic steatosis...	OMIM:270400
Biemond Syndrome Type 2	Microphthalmia	ORPHA:141333
Progressive Familial Heart Block, Type Ib	Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ...	OMIM:604559
Ornithine Transcarbamylase Deficiency	Splenomegaly, Hepatic failure, Hyperammonemia	ORPHA:664
Juvenile Polyposis Syndrome	Hematochezia, Hypokalemia, Hypoalbuminemia, Anemia	OMIM:174900
Cardiomyopathy, Familial Hypertrophic, 4	Hepatomegaly, Transient ischemic attack, Cardiac arrest, First degree atrioventricular block, Car...	OMIM:115197
Fanconi Anemia, Complementation Group G	Microphthalmia	OMIM:614082
Microphthalmia, Syndromic 13	Microphthalmia	OMIM:300915
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H...	OMIM:618398
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia	OMIM:615771
Pheochromocytoma	Tachycardia, Hypercalcemia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension,...	OMIM:171300
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Increased serum pyruvate, Macrocytic anemia, Splenomegaly, Hyperprolinemia, Cardiomyopathy, Hyper...	OMIM:619046
Congenital Erythropoietic Porphyria	Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegaly, Abnormal circulating porphyrin con...	ORPHA:79277
Hyperthyroidism, Nonautoimmune	Goiter, Tachycardia, Increased circulating thyroglobulin level, Thyroid hyperplasia	OMIM:609152
Long Qt Syndrome 16	Second degree atrioventricular block, Prolonged QTc interval, T-wave alternans, Bradycardia	OMIM:618782
Budd-Chiari Syndrome	Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Gastrointestinal hemorrhage, ...	ORPHA:131
Glycogen Storage Disease Ii	Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Increased circulating NT-proB...	OMIM:232300
Wilson Disease	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Abnormality of the menstrual ...	ORPHA:905
Trisomy 20P	Macroorchidism, Cryptorchidism, Hypospadias	ORPHA:261318
Atrial Septal Defect, Ostium Secundum Type	Bundle branch block, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atrial fibrill...	ORPHA:99103
Familial Cold Autoinflammatory Syndrome 2	Splenomegaly, Leukocytosis, Elevated circulating C-reactive protein concentration, Lymphadenopathy	OMIM:611762
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, Fol...	OMIM:619381
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Decreased CD4:CD8 ratio	OMIM:618495
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia	OMIM:617441
Brugada Syndrome 2	Sudden cardiac death, First degree atrioventricular block, Right bundle branch block, Syncope, Pr...	OMIM:611777
Carney Complex	Pituitary growth hormone cell adenoma, Leydig cell neoplasia, Ovarian serous cystadenoma, Abnorma...	ORPHA:1359
Infantile Liver Failure Syndrome 3	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole...	OMIM:618641
B-Cell Expansion With Nfkb And T-Cell Anergy	Splenomegaly, Increased B cell count	OMIM:616452
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Abnormal circulating selenium concentration, Decreased serum iron, Dilated cardiomyopathy, Decrea...	ORPHA:89842
Indolent Systemic Mastocytosis	Hepatomegaly, Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytos...	ORPHA:98848
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Familial Dysautonomia	Abnormal peritoneum morphology, Hyponatremia, Orthostatic hypotension, Tachycardia, Optic atrophy...	ORPHA:1764
Juvenile Polyposis Of Infancy	Refractory anemia, Gastrointestinal hemorrhage, Hematochezia, Melena, Intestinal bleeding, Hypoal...	ORPHA:79076
2Q24 Microdeletion Syndrome	Microphthalmia	ORPHA:1617
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:615895
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Microphthalmia	OMIM:616171
Cardiomyopathy, Familial Hypertrophic, 13	Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Right bundle branch...	OMIM:613243
Microphthalmia, Syndromic 11	Microphthalmia	OMIM:614402
Pfapa Syndrome	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:42642
Sea-Blue Histiocytosis	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia	ORPHA:158029
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Lymphadenopa...	ORPHA:3226
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6	Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction	OMIM:604401
Microphthalmia, Isolated 5	Microphthalmia	OMIM:611040
Ventricular Fibrillation, Paroxysmal Familial, 2	Ventricular fibrillation, Sudden cardiac death, Premature ventricular contraction	OMIM:612956
Oculocerebrocutaneous Syndrome	Microphthalmia, Orbital encephalocele, Anophthalmia	OMIM:164180
Sitosterolemia 1	Reticulocytosis, Hyperapobetalipoproteinemia, Splenomegaly, Thrombocytopenia, Giant platelets, El...	OMIM:210250
Hemorrhagic Fever-Renal Syndrome	Elevated hepatic transaminase, Shock, Tachycardia, Epistaxis, Hematemesis, Leukocytosis, Elevated...	ORPHA:340
Lymphoproliferative Syndrome 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, H...	OMIM:615122
Immunodeficiency 7	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut...	OMIM:615387
Cold Agglutinin Disease	Splenomegaly, Hepatomegaly, Hemolytic anemia, Lymphadenopathy	ORPHA:56425
Cardiomyopathy, Dilated, 1Oo	Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre...	OMIM:620247
Wolman Disease	Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Ascites, Hepatic failure, Anemia	ORPHA:75233
Gaucher Disease, Type Iii	Splenomegaly, Hepatomegaly, Pancytopenia, Thrombocytopenia	OMIM:231000
Xk Aprosencephaly Syndrome	Microphthalmia	ORPHA:3469
Mercury Poisoning	Hypertension, Tachycardia, Hypokalemia, Hypotension	ORPHA:330021
American Trypanosomiasis	Hepatomegaly, Splenomegaly, Congestive heart failure, Myocarditis, Lymphadenopathy, Cardiomyopath...	ORPHA:3386
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Abnormal atrioventri...	ORPHA:280365
Biliary, Renal, Neurologic, And Skeletal Syndrome	Anterior pituitary hypoplasia, Conjugated hyperbilirubinemia, Coloboma, Hepatic fibrosis, Hypoalb...	OMIM:619534
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Exocrine pancreatic insuff...	OMIM:612714
Elliptocytosis 1	Splenomegaly, Jaundice, Hemolytic anemia, Elliptocytosis	OMIM:611804
Atrial Fibrillation, Familial, 10	Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Permanent atrial fibrill...	OMIM:614022
Immunodeficiency 54	Hepatomegaly, Splenomegaly, Adrenocorticotropic hormone excess, Lymphadenopathy, Reduced natural ...	OMIM:609981
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4	Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Left bundle br...	OMIM:610131
Familial Partial Lipodystrophy, Dunnigan Type	Hepatomegaly, Hypertriglyceridemia, Dysmenorrhea, Splenomegaly, Congestive heart failure, Seconda...	ORPHA:2348
Thrombocythemia 1	Splenomegaly, Thrombocytosis	OMIM:187950
Cardiac-Urogenital Syndrome	Accessory spleen, Bifid scrotum, Tachycardia, Penoscrotal hypospadias, Unilateral cryptorchidism,...	OMIM:618280
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Macroorchidism	OMIM:309520
Griscelli Syndrome	Hepatomegaly, Abnormal circulating lipid concentration, Abnormality of neutrophils, Splenomegaly,...	ORPHA:381
Fetal Gaucher Disease	Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, Intracranial hemorrhage, Thr...	ORPHA:85212
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T...	OMIM:619802
Cofs Syndrome	Microphthalmia	ORPHA:1466
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Dysmenorrhea, Elevated circula...	ORPHA:79240
Triosephosphate Isomerase Deficiency	Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Optic disc pallor, Splenomegaly, Jaundice...	OMIM:615512
Niemann-Pick Disease, Type A	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Bone-marrow foam cel...	OMIM:257200
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Pancreatic fibrosis, Malformation of the hepatic ductal plate, Portal hypertension,...	OMIM:208540
Nephrotic Syndrome, Type 8	Hypoalbuminemia	OMIM:615244
Autoimmune Hepatitis	Elevated hepatic transaminase, Viral hepatitis, Gastrointestinal hemorrhage, Diffuse hepatic stea...	ORPHA:2137
Sick Sinus Syndrome 4	Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation...	OMIM:619464
Meckel Syndrome, Type 8	Encephalocele, Microphthalmia, Occipital encephalocele, Anophthalmia	OMIM:613885
Immunodeficiency, Common Variable, 1	Hepatomegaly, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased propo...	OMIM:607594
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia, R...	ORPHA:542306
Immunodeficiency 47	Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Normocytic anemia, Tricuspid regur...	OMIM:300972
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Genital ulcers, S...	OMIM:602450
Cinca Syndrome	Hepatomegaly, Abnormality of neutrophils, Elevated circulating C-reactive protein concentration, ...	ORPHA:1451
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Dilated cardiomyopathy, Ventricular tachycardia, Syncope	OMIM:615821
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B...	OMIM:607626
Adams-Oliver Syndrome 6	Splenomegaly, Tricuspid regurgitation, Hepatic fibrosis, Portal hypertension	OMIM:616589
Cardiomyopathy, Dilated, 1S	Tricuspid regurgitation, Sudden cardiac death, Congestive heart failure, Dilated cardiomyopathy, ...	OMIM:613426
Gamma-Heavy Chain Disease	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto...	ORPHA:100026
Proteus Syndrome	Abnormality of retinal pigmentation, Thymus hyperplasia, Sudden cardiac death, Pulmonary embolism...	ORPHA:744
Coach Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Optic disc pallor, Portal hypertension, Splenomegaly...	OMIM:216360
Short Qt Syndrome 2	Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul...	OMIM:609621
Cocaine Intoxication	Prolonged QT interval, Tachycardia, Prolonged QRS complex, Elevated circulating creatine kinase c...	ORPHA:90068
Atrial Tachyarrhythmia With Short Pr Interval	Paroxysmal atrial tachycardia, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Sho...	OMIM:108950
Cholera	Hyponatremia, Tachycardia, Abnormal blood ion concentration, Hypovolemic shock, Hypokalemia, Hypo...	ORPHA:173
Serotonin Syndrome	Hypertension, Tachycardia, Hepatic failure, Hypotension	ORPHA:43116
Autoimmune Hypoparathyroidism	Prolonged QT interval, Autoimmune hypoparathyroidism, Abnormal left ventricular function, Hypocal...	ORPHA:36913
Cat-Eye Syndrome	Microphthalmia	ORPHA:195
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Left ventricular hypertrophy, Pancytopenia, Dilated cardiomyopathy, Tachycardia	OMIM:618321
Pediatric-Onset Graves Disease	Elevated hepatic transaminase, Hepatomegaly, Atrial fibrillation, Splenomegaly, Jaundice, Congest...	ORPHA:525731
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone...	OMIM:301078
Congenitally Corrected Transposition Of The Great Arteries	Wolff-Parkinson-White syndrome, First degree atrioventricular block, Heart block, Ventricular tac...	ORPHA:216694
Essential Thrombocythemia	Transient ischemic attack, Myocardial infarction, Splenomegaly, Abnormal platelet morphology, Acu...	ORPHA:3318
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Angina pectoris, Elevated circulating creatine kinase concentration, Splenomegaly, ...	ORPHA:565612
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, Intermitte...	OMIM:150550
Atrial Standstill 2	Atrial cardiomyopathy, Absent P wave, Atrial standstill, Hyperpepsinogenemia I, Cardiomyopathy, B...	OMIM:615745
Linear Skin Defects With Multiple Congenital Anomalies 3	Cardiac arrest, Thyroid C cell hyperplasia, Dilated cardiomyopathy, Ventricular tachycardia, Hist...	OMIM:300952
Atrial Septal Defect 6	Atrial fibrillation, Bradycardia	OMIM:613087
Isolated Biliary Atresia	Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Splenomegaly, Jaundice, Conjuga...	ORPHA:30391
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Normochromic anemia, Hypoalbuminemia, Thrombocytopenia	OMIM:254900
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Elevated hepatic transaminase, Hepatomegaly, Abnormal blood inorganic cation concentration, Porta...	ORPHA:309854
Wild Type Attr Amyloidosis	Hepatomegaly, Abnormal EKG, Myocardial infarction, Congestive heart failure, Bradycardia, Arrhyth...	ORPHA:330001
Lissencephaly 8	Microphthalmia, Occipital encephalocele	OMIM:617255
Malignant Hyperthermia, Susceptibility To, 5	Tachycardia	OMIM:601887
Cryoglobulinemic Vasculitis	Gastrointestinal hemorrhage, Hepatomegaly, Viral hepatitis, Splenomegaly, Mediastinal lymphadenop...	ORPHA:91138
Ethylene Glycol Poisoning	Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Congestive heart failure, Hyperka...	ORPHA:31826
Pierpont Syndrome	Microphthalmia	ORPHA:487825
Autoinflammation With Arthritis And Dyskeratosis	Hepatomegaly, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,...	OMIM:617388
Short Qt Syndrome 7	Cardiac arrest, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular fibrillation	OMIM:620231
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Dysplastic testes, Cryptorchidism, Testicular dysgenesis, Ambiguous genitalia, male, Bradycardia,...	OMIM:608800
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Splenomegaly, Pancreatic lymphangiectasis, Cryptorchidism, Pulmonary lymphangiectas...	ORPHA:1655
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia	OMIM:604229
Hartsfield Syndrome	Encephalocele, Microphthalmia	ORPHA:2117
Brugada Syndrome 6	ST segment elevation, Ventricular fibrillation, Cardiac arrest	OMIM:613119
Legionnaires Disease	Hyponatremia, Pericarditis, Splenomegaly, Jaundice, Myocarditis, Hepatitis, Lymphadenopathy, Bone...	ORPHA:549
Gaisböck Syndrome	Hypertriglyceridemia, Angina pectoris, Myocardial infarction, Splenomegaly, Increased mean corpus...	ORPHA:90041
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2	Hypoalbuminemia	OMIM:614441
Acute Intermittent Porphyria	Hyponatremia, Hypertension, Tachycardia, Hepatocellular carcinoma	ORPHA:79276
Hemophagocytic Syndrome Associated With An Infection	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Splenomegaly, Th...	ORPHA:158048
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Microphthalmia	ORPHA:1473
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Orthostatic hypotension, Tachycardia, Elevated circulating creatinine concentration, Hypertension...	OMIM:223900
Tyrosinemia, Type I	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Gastrointestinal hemorrhage, ...	OMIM:276700
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Intraventricular hemorrhage, Hypoalbuminemia, Elevated circulating creatine kinase concentration	OMIM:619055
Gaucher Disease Type 1	Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Thrombocytopenia, Leukopenia, Cirrhosis,...	ORPHA:77259
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Microphthalmia	OMIM:251270
Tatton-Brown-Rahman Syndrome	Tricuspid regurgitation, Supraventricular tachycardia with an accessory connection mediated pathw...	ORPHA:404443
Pierpont Syndrome	Microphthalmia	OMIM:602342
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Hypernatremia, Hypoalbuminemia, Pulmonic stenosis	OMIM:615508
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Spherocytosis	ORPHA:66518
Meckel Syndrome, Type 5	Microphthalmia, Occipital encephalocele, Anencephaly	OMIM:611561
Microphthalmia, Syndromic 8	Microphthalmia	OMIM:601349
Polycythemia Vera	Gastrointestinal hemorrhage, Hepatomegaly, Angina pectoris, Epistaxis, Portal hypertension, Pulmo...	ORPHA:729
Pheochromocytoma/Paraganglioma Syndrome 4	Tachycardia, Extraadrenal pheochromocytoma, Adrenal pheochromocytoma, Palpitations, Hypertension ...	OMIM:115310
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia	ORPHA:1135
Warburg Micro Syndrome 1	Microphthalmia	OMIM:600118
Hyperlipoproteinemia, Type Id	Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Splenomegaly, Pancre...	OMIM:615947
46,Xy Sex Reversal 10	Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias...	OMIM:616425
Purine Nucleoside Phosphorylase Deficiency	Cerebral vasculitis, Autoimmune hemolytic anemia, Hypouricemia, Increased circulating guanosine c...	OMIM:613179
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Posterior lenticonus, Remnants of the hyaloid vascular system, Iris coloboma, Chorioretinal coloboma	ORPHA:231736
Degcags Syndrome	Hepatomegaly, Pancytopenia, Tachycardia, Hypospadias, Congenital hypoplastic anemia, Cryptorchidi...	OMIM:619488
Kaposiform Lymphangiomatosis	Epidural hemorrhage, Metrorrhagia, Epistaxis, Pancreatic cysts, Splenomegaly, Thrombocytopenia, A...	ORPHA:464329
Sudden Cardiac Failure, Infantile	Sudden cardiac death, Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyop...	OMIM:617222
Felty Syndrome	Hepatomegaly, Pericarditis, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Bone marrow hypocell...	ORPHA:47612
Mucopolysaccharidosis, Type Iiib	Splenomegaly, Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly	OMIM:252920
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Prolidase Deficiency	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Thromb...	OMIM:170100
Galloway-Mowat Syndrome 3	Hypertension, Hypoalbuminemia	OMIM:617729
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Microphthalmia	ORPHA:48431
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Epistaxis, Increased mean platelet volume, Splenomegaly, Stomatocytosis, Menorr...	OMIM:153670
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Microphthalmia	OMIM:601794
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Thyroid lymphangiectasia, Splenomegaly, Pancreatic lymphangiectasis, Cryptorchidism...	OMIM:235255
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Microphthalmia, Optic nerve hypoplasia	OMIM:615181
Sarcoidosis	Heart block, Increased T cell count, Ventricular tachycardia, Leukopenia, Hepatomegaly, Hemolytic...	ORPHA:797
Aspartylglucosaminuria	Hepatomegaly, Vacuolated lymphocytes, Mitral regurgitation, Neutropenia, Macroorchidism	OMIM:208400
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Hepatomegaly, Splenomegaly, Decreased serum zinc, Hypogonadism, Decreased testicular size	OMIM:201100
Oculoskeletodental Syndrome	Hepatomegaly, Hypercalcemia, Splenomegaly, Cryptorchidism, Lacunar stroke, Hypocalcemia	OMIM:618440
Ogden Syndrome	Premature atrial contractions, Cardiomegaly, Microvesicular hepatic steatosis, Jaundice, Thromboc...	OMIM:300855
Hyperlipoproteinemia, Type I	Splenomegaly, Jaundice, Hyperlipidemia, Hepatosplenomegaly, Lactescent serum, Increased circulati...	OMIM:238600
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Leukocytosis, Intraalveolar phospholipid accumulation	OMIM:618042
Gray Platelet Syndrome	Epistaxis, Abnormal number of alpha granules, Splenomegaly, Menorrhagia, Thrombocytopenia	OMIM:139090
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
Congenital Toxoplasmosis	Microphthalmia	ORPHA:858
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Hematemesis, Hypertension, Per...	OMIM:263200
Ebstein Anomaly	Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ventricular preexcitation, Right bu...	OMIM:224700
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Microphthalmia	OMIM:613155
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Splenomegaly, Pancytopenia	OMIM:614979
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Macular atrophy, Microvesicular hepatic ste...	OMIM:619418
8P11.2 Deletion Syndrome	Hemolytic anemia, Hypoplasia of penis, Hypogonadotropic hypogonadism, Splenomegaly, Cryptorchidis...	ORPHA:251066
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia	ORPHA:363741
Developmental Delay With Variable Neurologic And Brain Abnormalities	Microphthalmia	OMIM:619694
Temtamy Syndrome	Microphthalmia	ORPHA:1777
49,Xxxyy Syndrome	External genital hypoplasia, Abnormality of the testis size, Increased circulating gonadotropin l...	ORPHA:261534
Gitelman Syndrome	Prolonged QT interval, Ventricular tachycardia, Hypokalemia, Increased circulating renin level, P...	OMIM:263800
Braddock-Carey Syndrome 2	Microphthalmia	OMIM:619981
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Retinal hemorrhage, Hypertension, Tachycardia, Bradycardia	OMIM:614653
Omenn Syndrome	Hepatomegaly, Eosinophilia, Splenomegaly, Leukocytosis, Lymphadenopathy, Abnormal lymphocyte morp...	ORPHA:39041
Familial Mediterranean Fever	Hepatomegaly, Pericarditis, Neutrophilia, Elevated circulating C-reactive protein concentration, ...	OMIM:249100
Oculogastrointestinal Neurodevelopmental Syndrome	Bilateral microphthalmos, Unilateral microphthalmos	OMIM:619318
Whipple Disease	Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Hyponatremia, Myocardial infarction, Spl...	ORPHA:3452
Autosomal Dominant Keratitis	Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A...	ORPHA:2334
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Microphthalmia	OMIM:602501
Osteopetrosis, Autosomal Recessive 1	Hepatomegaly, Pancytopenia, Splenomegaly, Optic atrophy, Anemia, Hypocalcemia, Thrombocytopenia	OMIM:259700
Joubert Syndrome 22	Microphthalmia	OMIM:615665
Central Precocious Puberty In Male	Pituitary microadenoma, Abnormality of the testis size, Precocious puberty in males	ORPHA:649929
Aspartylglucosaminuria	Splenomegaly, Hepatomegaly, Macroorchidism	ORPHA:93
Proteasome-Associated Autoinflammatory Syndrome 4	Splenomegaly, Hepatomegaly, Autoimmune hemolytic anemia, Lymphadenopathy	OMIM:619183
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Splenomegaly, Lymphadenitis, Recurrent tonsillitis, Hepatos...	OMIM:618935
Brugada Syndrome 5	ST segment elevation, Bundle branch block, Ventricular fibrillation	OMIM:612838
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Portal hypertension, Elevated circulat...	OMIM:615688
Macrocephaly/Autism Syndrome	Hepatomegaly, Penile freckling, Splenomegaly, Hydrocele testis, Lymphopenia	OMIM:605309
Immunodeficiency With Hyper-Igm, Type 1	Hepatomegaly, Hemolytic anemia, Absence of lymph node germinal center, Splenomegaly, Enlarged ton...	OMIM:308230
Developmental And Epileptic Encephalopathy 1	Microphthalmia	OMIM:308350
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Microphthalmia	OMIM:613730
Linear Skin Defects With Multiple Congenital Anomalies 2	Microphthalmia	OMIM:300887
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Hypoalbuminemia, Anemia	ORPHA:79396
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Microphthalmia	ORPHA:2547
Glycogen Storage Disease Ib	Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Splenomegaly, Hyperlipidemia, N...	OMIM:232220
Joubert Syndrome With Hepatic Defect	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Congenital hepatic fibrosis, Sp...	ORPHA:1454
Galloway-Mowat Syndrome 1	Optic atrophy, Hypoalbuminemia	OMIM:251300
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Thrombocytopenia...	OMIM:617591
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hepatomegaly, Hypercalcemia, Splenomegaly, Primary hyperparathyroidism, Hypophosphate...	OMIM:239200
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Microphthalmia	ORPHA:93267
Sarcoidosis, Susceptibility To, 2	Splenomegaly, Hepatomegaly, Mediastinal lymphadenopathy, Pulmonary arterial hypertension	OMIM:612387
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenop...	OMIM:616100
Pearson Syndrome	Decreased response to growth hormone stimulation test, Abnormality of the liver, Hypocalcemia, Ne...	ORPHA:699
Frontonasal Dysplasia 1	Cranium bifidum occultum, Microphthalmia, Anterior basal encephalocele	OMIM:136760
Absence Of The Pulmonary Artery	Abnormal EKG, Atrial flutter, Tachycardia, Atrial fibrillation, Cardiomegaly, Congestive heart fa...	ORPHA:980
Reynolds Syndrome	Elevated hepatic transaminase, Hepatomegaly, Gastrointestinal hemorrhage, Calcinosis, Raynaud phe...	OMIM:613471
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Hepatomegaly, Spontaneous, recurrent epistaxis, Abnorm...	OMIM:214500
Anterior Segment Dysgenesis 2	Aniridia, Microphthalmia, Congenital aphakia, Anterior segment of eye aplasia	OMIM:610256
Necrotizing Enterocolitis	Shock, Hyponatremia, Leukocytosis, Peritonitis, Bradycardia, Hypotension, Neutropenia, Ascites, T...	ORPHA:391673
Cornea Plana 2, Autosomal Recessive	Microphthalmia	OMIM:217300
Frontonasal Dysplasia 3	Microphthalmia	OMIM:613456
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Hepatomegaly, Intermittent thrombocytopenia, Splenomegaly, Erythroid hypoplasia, Thrombocytopenia...	OMIM:612541
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Ventricular escape rhythm, Hypertriglyceridemia, Elevated circulating creatine kinase concentrati...	ORPHA:98855
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Precocious puberty, Macroorchidism	OMIM:619950
Plague	Hepatomegaly, Tachycardia, Hematemesis, Splenomegaly, Lymphadenitis, Enlarged mesenteric lymph no...	ORPHA:707
Osteopetrosis, Autosomal Recessive 5	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Optic disc pallor, Splenomegaly, Leukoc...	OMIM:259720
Emery-Dreifuss Muscular Dystrophy	Ventricular escape rhythm, Hypertriglyceridemia, Elevated circulating creatine kinase concentrati...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Ventricular escape rhythm, Hypertriglyceridemia, Elevated circulating creatine kinase concentrati...	ORPHA:98853
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Increased circulating thyroglobulin level, Portal hypertension, Pancreatic cysts, S...	OMIM:610199
Baraitser-Winter Syndrome 2	Microphthalmia	OMIM:614583
Meckel Syndrome, Type 2	Encephalocele, Microphthalmia, Meningocele, Anencephaly	OMIM:603194
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hepatomegaly, Hemolytic anemia, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Hyperkalem...	OMIM:608885
Cardiac Diverticulum	Abnormal EKG, Mitral stenosis, Angina pectoris, Tricuspid stenosis, Congestive heart failure, Ven...	ORPHA:1686
Anterior Segment Dysgenesis 7	Buphthalmos, Microphthalmia	OMIM:269400
Waldenström Macroglobulinemia	Normocytic anemia, Hepatomegaly, Gastrointestinal hemorrhage, Epistaxis, Abnormality of neutrophi...	ORPHA:33226
17Q12 Microduplication Syndrome	Microphthalmia	ORPHA:261272
Congenital Rubella Syndrome	Aplasia/Hypoplasia of the iris, Microphthalmia	ORPHA:290
Common Variable Immunodeficiency	Elevated hepatic transaminase, Hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Vascu...	ORPHA:1572
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H...	ORPHA:731
Adams-Oliver Syndrome 5	Portal vein thrombosis, Splenomegaly, Hypersplenism, Pulmonic stenosis, Pulmonary arterial hypert...	OMIM:616028
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hepatomegaly, Hemolytic anemia, Splenomegaly, Lymphadenopathy, Thrombocytopenia	ORPHA:169090
Scheie Syndrome	Splenomegaly, Hepatomegaly, Aortic regurgitation	ORPHA:93474
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos	ORPHA:77299
X-Linked Emery-Dreifuss Muscular Dystrophy	Ventricular escape rhythm, Hypertriglyceridemia, Elevated circulating creatine kinase concentrati...	ORPHA:98863
Q Fever	Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Splenomegaly, Thrombocytopenia, Vascul...	ORPHA:781
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatomegaly, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation te...	OMIM:602782
Familial Thrombocytosis	Acute myeloid leukemia, Transient ischemic attack, Splenomegaly, Chronic myelogenous leukemia, Pu...	ORPHA:71493
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Microphthalmia, Optic nerve hypoplasia	OMIM:614833
Seckel Syndrome 2	Microphthalmia	OMIM:606744
Chédiak-Higashi Syndrome	Vacuolated lymphocytes, Neutropenia, Abnormal natural killer cell morphology, Hyponatremia, Hepat...	ORPHA:167
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Microphthalmia	OMIM:613153
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia	OMIM:605676
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Buphthalmos, Microphthalmia	OMIM:212550
Idiopathic Uveal Effusion Syndrome	Microphthalmia	ORPHA:209956
Mixed Connective Tissue Disease	Gastrointestinal hemorrhage, Hepatomegaly, Hemolytic anemia, Pericarditis, Splenomegaly, Mediasti...	ORPHA:809
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia	ORPHA:2788
Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	ORPHA:2717
Autosomal Dominant Progressive External Ophthalmoplegia	Elevated hepatic transaminase, Atrial fibrillation, Elevated circulating creatine kinase concentr...	ORPHA:254892
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome	Heart block, Premature ventricular contraction	ORPHA:1964
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Microphthalmia, Lens coloboma, Umbilical hernia	OMIM:618914
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Intrahepatic bile duct dilatation, H...	OMIM:301068
Kikuchi-Fujimoto Disease	Elevated hepatic transaminase, Hepatomegaly, Generalized lymphadenopathy, Elevated circulating C-...	ORPHA:50918
49,Xyyyy Syndrome	External genital hypoplasia, Abnormality of the testis size, Increased circulating gonadotropin l...	ORPHA:99330
Lysinuric Protein Intolerance	Hepatomegaly, Hypolysinemia, Splenomegaly, Thrombocytopenia, Increased circulating ferritin conce...	OMIM:222700
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Arrhythmia, Paroxysmal supraventricular tachycardia, Pulmonic stenosis	OMIM:617877
Spondylo-Ocular Syndrome	Microphthalmia, Aplasia/Hypoplasia of the lens	ORPHA:85194
Lipodystrophy, Congenital Generalized, Type 2	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Elevated h...	OMIM:269700
Cerebrooculofacioskeletal Syndrome 1	Microphthalmia	OMIM:214150
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures	Elevated circulating creatine kinase concentration, Premature ventricular contraction	OMIM:617072
Oculopalatocerebral Syndrome	Microphthalmia	OMIM:257910
Pelvis-Shoulder Dysplasia	Microphthalmia, Spina bifida occulta	OMIM:169550
Hydrolethalus	Microphthalmia, Anophthalmia, Anencephaly	ORPHA:2189
Nance-Horan Syndrome	Microphthalmia	ORPHA:627
Meckel Syndrome, Type 4	Encephalocele, Microphthalmia, Meningocele, Anencephaly	OMIM:611134
Glycogen Storage Disease Of Heart, Lethal Congenital	Prolonged QRS complex, Cardiomegaly, Left axis deviation, Congestive heart failure, ST segment el...	OMIM:261740
Bresek Syndrome	Microphthalmia, Optic nerve hypoplasia	ORPHA:85284
Idiopathic Hypereosinophilic Syndrome	Generalized lymphadenopathy, Cholangitis, Pulmonary embolism, Intracranial hemorrhage, Neutrophil...	ORPHA:3260
Ring Chromosome 10 Syndrome	Microphthalmia	ORPHA:1438
Niemann-Pick Disease, Type C1	Hepatomegaly, Fatal liver failure in infancy, Fetal ascites, Bone-marrow foam cells, Splenomegaly...	OMIM:257220
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Cardiomyopathy...	OMIM:616084
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy...	ORPHA:86843
Tsh-Secreting Pituitary Adenoma	Male hypogonadism, Hypogonadotropic hypogonadism, Decreased fertility in males, Hypokalemia, Hypo...	ORPHA:91347
Bartsocas-Papas Syndrome 2	Microphthalmia	OMIM:619339
Trisomy 13	Aplasia/Hypoplasia of the iris, Microphthalmia, Anophthalmia	ORPHA:3378
Familial Mediterranean Fever	Acute hepatic failure, Pericarditis, Myocardial infarction, Orchitis, Splenomegaly, Peritonitis, ...	ORPHA:342
Microphthalmia, Syndromic 5	Microphthalmia, Anophthalmia, Optic nerve hypoplasia	OMIM:610125
Neurooculocardiogenitourinary Syndrome	Microphthalmia	OMIM:618652
Steinert Myotonic Dystrophy	Elevated hepatic transaminase, Endometrial carcinoma, Atrial fibrillation, Prolonged QRS complex,...	ORPHA:273
Gaucher Disease, Type Iiic	Hepatomegaly, Pancytopenia, Cardiomegaly, Splenomegaly, Mitral stenosis	OMIM:231005
Subaortic Stenosis-Short Stature Syndrome	Microphthalmia	ORPHA:3191
Cerebrooculofacioskeletal Syndrome 2	Microphthalmia	OMIM:610756
Lipodystrophy, Congenital Generalized, Type 1	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Decreased ...	OMIM:608594
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Splenomegaly, Hepatomegaly, Neutrophilia, Elevated circulating C-reactive protein concentration	OMIM:612852
Linear Skin Defects With Multiple Congenital Anomalies 1	Hypospadias, Ovotestis, Junctional ectopic tachycardia, Micropenis, Hypoplasia of the uterus, Pig...	OMIM:309801
Brucellosis	Hepatomegaly, Pericarditis, Liver abscess, Transient ischemic attack, Elevated circulating C-reac...	ORPHA:1304
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Bilateral microphthalmos, Optic nerve hypoplasia, Ethmoidal encephalocele	OMIM:607597
Rodrigues Blindness	Microphthalmia	OMIM:268320
Atelis Syndrome 2	Remnants of the hyaloid vascular system, Supravalvar pulmonary stenosis, Anemia, Vitreous hemorrh...	OMIM:620185
Chronic Granulomatous Disease	Hepatomegaly, Liver abscess, Abnormality of neutrophils, Splenomegaly, Mediastinal lymphadenopathy	ORPHA:379
Congenital Muscular Dystrophy With Cerebellar Involvement	Microphthalmia, Occipital encephalocele, Optic nerve hypoplasia	ORPHA:370959
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia	OMIM:167730
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Microphthalmia, Abnormally large globe	OMIM:615249
Autoimmune Lymphoproliferative Syndrome	Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-b...	ORPHA:3261
Chronic Visceral Acid Sphingomyelinase Deficiency	Hepatomegaly, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentration, ...	ORPHA:77293
Adams-Oliver Syndrome 2	Microphthalmia	OMIM:614219
Syndromic Diarrhea	Aortic regurgitation, Hepatomegaly, Increased mean platelet volume, Splenomegaly, Abnormality of ...	ORPHA:84064
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Microphthalmia	OMIM:614105
Joubert Syndrome 37	Microphthalmia	OMIM:619185
Osteopetrosis, Autosomal Recessive 7	Hepatomegaly, Splenomegaly, Optic atrophy, Hypocalcemic seizures, Optic nerve compression, Anemia	OMIM:612301
Yellow Fever	Shock, Acute pancreatitis, Neutrophilia, Elevated circulating aspartate aminotransferase concentr...	ORPHA:99829
Myelofibrosis	Splenomegaly, Myeloproliferative disorder	OMIM:254450
Congenital Disorder Of Glycosylation, Type Iq	Microphthalmia	OMIM:612379
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Encephalocele, Microphthalmia	ORPHA:228390
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Microphthalmia	OMIM:619053
Liver Disease, Severe Congenital	Cardiomegaly, Biliary hyperplasia, Abnormal left ventricular function, Leukopenia, Lymphocytosis,...	OMIM:619991
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Microphthalmia	OMIM:152950
Solitary Median Maxillary Central Incisor	Microphthalmia, Anophthalmia	OMIM:147250
Monosomy 18P	Microphthalmia	ORPHA:1598
Truncus Arteriosus	Aortic regurgitation, Tachycardia, Cardiomegaly, Abnormal heart valve physiology, Hypoplasia of t...	ORPHA:3384
Microphthalmia With Brain And Digit Anomalies	Microphthalmia, Anophthalmia	ORPHA:139471
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Microphthalmia	OMIM:300863
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Pericarditis, Elevated circulating C-reactive protein concentration, Orchitis, Splenomegaly, Leuk...	ORPHA:32960
Coloboma, Ocular, Autosomal Dominant	Optic nerve aplasia, Optic disc coloboma, Remnants of the hyaloid vascular system, Chorioretinal ...	OMIM:120200
Temtamy Syndrome	Microphthalmia	OMIM:218340
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Microphthalmia	ORPHA:163649
Myoclonic-Astatic Epilepsy	Microphthalmia	ORPHA:1942
Optic Nerve Hypoplasia, Bilateral	Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia	OMIM:165550
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:233710
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Microphthalmia	OMIM:618494
Pmm2-Cdg	Elevated hepatic transaminase, Pericarditis, Angina pectoris, Hypogonadotropic hypogonadism, Elev...	ORPHA:79318
Sandestig-Stefanova Syndrome	Microphthalmia	OMIM:618804
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Microphthalmia, Anophthalmia	ORPHA:77298
Moebius Syndrome	Microphthalmia	OMIM:157900
Fanconi Anemia, Complementation Group S	Microphthalmia	OMIM:617883
Frontofacionasal Dysplasia	Encephalocele, Microphthalmia	ORPHA:1791
Testicular Agenesis	Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci...	ORPHA:325124
Chromosome 17Q12 Duplication Syndrome	Microphthalmia	OMIM:614526
Stevenson-Carey Syndrome	Microphthalmia	OMIM:611961
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:233690
Baraitser-Winter Syndrome 1	Microphthalmia	OMIM:243310
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia	OMIM:305390
Rere-Related Neurodevelopmental Syndrome	Microphthalmia	ORPHA:494344
Otodental Syndrome	Microphthalmia, Lens coloboma	ORPHA:2791
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	OMIM:248450
Porphyria, Congenital Erythropoietic	Hepatomegaly, Hemolytic anemia, Splenomegaly, Jaundice, Elevated circulating uroporphyrin concent...	OMIM:263700
Microcephaly 20, Primary, Autosomal Recessive	Microphthalmia, Optic nerve hypoplasia	OMIM:617914
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Umbilical hernia, Bilateral microphthalmos	ORPHA:369891
Gracile Bone Dysplasia	Aniridia, Microphthalmia	OMIM:602361
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Retinal detachment, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Elevated cir...	OMIM:614643
Matthew-Wood Syndrome	Microphthalmia, Anophthalmia	ORPHA:2470
Multiple Benign Circumferential Skin Creases On Limbs	Microphthalmia, Umbilical hernia	ORPHA:2505
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Splenomegaly, Hepatomegaly, Arrhythmia, Hypogonadism	ORPHA:163746
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Microphthalmia	ORPHA:163966
Joubert Syndrome 14	Encephalocele, Microphthalmia, Meningocele	OMIM:614424
Fanconi Anemia, Complementation Group I	Microphthalmia, Optic nerve hypoplasia	OMIM:609053
Norrie Disease	Hypoplasia of the iris, Microphthalmia, Buphthalmos	OMIM:310600
Curry-Jones Syndrome	Microphthalmia	ORPHA:1553
Vitreoretinochoroidopathy	Microphthalmia	OMIM:193220
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Microphthalmia	ORPHA:404440
Persistent Hyperplastic Primary Vitreous	Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant...	ORPHA:91495
Microphthalmia With Limb Anomalies	Microphthalmia, Anophthalmia	OMIM:206920
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia, Bilateral microphthalmos	ORPHA:2399
Microphthalmia, Isolated, With Coloboma 9	Microphthalmia	OMIM:615145
Multiple Myeloma	Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Lymphadenopathy, Hype...	ORPHA:29073
Trichothiodystrophy 3, Photosensitive	Microphthalmia	OMIM:616395
Warburg Micro Syndrome 4	Microphthalmia	OMIM:615663
Fanconi Anemia, Complementation Group R	Microphthalmia	OMIM:617244
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Microphthalmia	OMIM:617306
Heart And Brain Malformation Syndrome	Microphthalmia	OMIM:616920
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Buphthalmos, Microphthalmia	OMIM:616538
Refsum Disease	Microphthalmia	ORPHA:773
3P25.3 Microdeletion Syndrome	Microphthalmia	ORPHA:435638
Warburg Micro Syndrome 3	Microphthalmia	OMIM:614222
Marden-Walker Syndrome	Microphthalmia	OMIM:248700
Fetal Alcohol Syndrome	Microphthalmia	ORPHA:1915
Walker-Warburg Syndrome	Microphthalmia, Anophthalmia	ORPHA:899
Autosomal Recessive Malignant Osteopetrosis	Hepatomegaly, Splenomegaly, Lymphadenopathy, Hypocalcemia, Hypophosphatemia, Pulmonary arterial h...	ORPHA:667
Acromelic Frontonasal Dysostosis	Cryptorchidism, Hypopituitarism, Remnants of the hyaloid vascular system, Optic nerve hypoplasia	OMIM:603671
Kapur-Toriello Syndrome	Microphthalmia	ORPHA:2328
Frontorhiny	Encephalocele, Microphthalmia, Cranium bifidum occultum, Basal encephalocele	ORPHA:391474
Familial Exudative Vitreoretinopathy	Microphthalmia	ORPHA:891
Granulomatous Disease, Chronic, X-Linked	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:306400
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Aortic regurgitation, Tricuspid regurgitation, First degree atrioventricular block, Cardiomegaly,...	OMIM:620066
Scalp-Ear-Nipple Syndrome	Congestive heart failure, Hypertension, Breast aplasia, Supraventricular tachycardia, Iris coloboma	OMIM:181270
Pierson Syndrome	Retinal detachment, Remnants of the hyaloid vascular system, Retinal hemorrhage, Hypertension, Po...	OMIM:609049
Trichothiodystrophy 4, Nonphotosensitive	Microphthalmia	OMIM:234050
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Microphthalmia	OMIM:620098
Ectodermal Dysplasia-Blindness Syndrome	Microphthalmia	ORPHA:1806
Chromosome 1Q41-Q42 Deletion Syndrome	Microphthalmia	OMIM:612530
Oculofaciocardiodental Syndrome	Microphthalmia	ORPHA:2712
3Q29 Microduplication Syndrome	Aniridia, Microphthalmia	ORPHA:251038
Chromosome 13Q33-Q34 Deletion Syndrome	Encephalocele, Microphthalmia, Anencephaly	OMIM:619148
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Microphthalmia	OMIM:241410
Adams-Oliver Syndrome	Encephalocele, Microphthalmia	ORPHA:974
Tetraamelia-Multiple Malformations Syndrome	Microphthalmia, Septo-optic dysplasia	ORPHA:3301
Basel-Vanagaite-Smirin-Yosef Syndrome	Microphthalmia	OMIM:616449
Nance-Horan Syndrome	Microphthalmia	OMIM:302350
Ritscher-Schinzel Syndrome 3	Microphthalmia	OMIM:619135
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microphthalmia	OMIM:618571
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Remnants of the hyaloid vascular system, Retinal nonattachment, Hyphema, Iris coloboma	OMIM:221900
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Buphthalmos, Microphthalmia, Encephalocele	OMIM:613150
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Microphthalmia	ORPHA:2728
Congenital Total Pulmonary Venous Return Anomaly	Hepatomegaly, Tachycardia, Tricuspid regurgitation, Right ventricular failure, Cardiomegaly, Low-...	ORPHA:99125
Sarcoidosis, Susceptibility To, 1	Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Optic neuropathy, Splenomegaly, Mediasti...	OMIM:181000
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Microphthalmia	ORPHA:1352
X-Linked Dominant Chondrodysplasia Punctata	Microphthalmia	ORPHA:35173
Encephalocraniocutaneous Lipomatosis	Hypoplasia of the iris, Microphthalmia	OMIM:613001
Micro Syndrome	Microphthalmia	ORPHA:2510
Cerebrooculofacioskeletal Syndrome 4	Bilateral microphthalmos	OMIM:610758
Martsolf Syndrome 1	Microphthalmia	OMIM:212720
Warburg Micro Syndrome 2	Microphthalmia	OMIM:614225
Frontonasal Dysplasia 2	Encephalocele, Microphthalmia	OMIM:613451
Kapur-Toriello Syndrome	Microphthalmia	OMIM:244300
Ectodermal Dysplasia And Immunodeficiency 2	Splenomegaly, Hepatomegaly, Aplasia of the sweat glands	OMIM:612132
Oculoauricular Syndrome	Phthisis bulbi, Macular hypoplasia, Microphakia, Microphthalmia, Spina bifida occulta	OMIM:612109
Vacterl With Hydrocephalus	Microphthalmia, Anophthalmia, Spina bifida	ORPHA:3412
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Microphthalmia, Anophthalmia	OMIM:615877
Skin Creases, Congenital Symmetric Circumferential, 1	Microphthalmia	OMIM:156610
Oculodentodigital Dysplasia, Autosomal Recessive	Microphthalmia	OMIM:257850
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Microphthalmia	OMIM:253800
Pseudotrisomy 13 Syndrome	Encephalocele, Microphthalmia	OMIM:264480
Mosaic Trisomy 9	Microphthalmia, Spina bifida	ORPHA:99776
Focal Dermal Hypoplasia	Hypoplasia of the iris, Microphthalmia, Umbilical hernia, Spina bifida	ORPHA:2092
Joubert Syndrome 2	Encephalocele, Microphthalmia	OMIM:608091
Curry-Jones Syndrome	Occipital meningocele, Microphthalmia, Lipomyelomeningocele	OMIM:601707
Trichothiodystrophy 1, Photosensitive	Microphthalmia	OMIM:601675
Duane-Radial Ray Syndrome	Microphthalmia, Spina bifida occulta, Optic disc hypoplasia	OMIM:607323
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Optic nerve hypoplasia, Meningoencephalocele, Buphthalmos, Microphthalmia	OMIM:236670
Chondrodysplasia Punctata 2, X-Linked Dominant	Microphthalmia	OMIM:302960
Microcephaly-Micromelia Syndrome	Microphthalmia	OMIM:251230
Meckel Syndrome 14	Microphthalmia, Occipital encephalocele	OMIM:619879
Pelvis-Shoulder Dysplasia	Hydranencephaly, Bilateral microphthalmos, Spina bifida	ORPHA:2839
Microphthalmia, Lenz Type	Microphthalmia	ORPHA:568
Johanson-Blizzard Syndrome	Conjugated hyperbilirubinemia, Hepatic fibrosis, Hypocalcemia, Micropenis, Hepatomegaly, Hypospad...	OMIM:243800
Xeroderma Pigmentosum, Complementation Group D	Microphthalmia	OMIM:278730
Xeroderma Pigmentosum, Complementation Group B	Microphthalmia	OMIM:610651
8Q21.11 Microdeletion Syndrome	Microphthalmia	ORPHA:284160
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Microphthalmia	OMIM:618727
Legius Syndrome	Acute monocytic leukemia, Paroxysmal atrial tachycardia, Ovarian neoplasm, Male urethral meatus s...	ORPHA:137605
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Hypoalbuminemia	OMIM:614748
3Q29 Microdeletion Syndrome	Microphthalmia	ORPHA:65286
Microphthalmia, Syndromic 3	Microphthalmia, Optic nerve aplasia, Anophthalmia, Optic nerve hypoplasia	OMIM:206900
Chromosome 8Q21.11 Deletion Syndrome	Microphthalmia	OMIM:614230
Mosaic Trisomy 1	Microphthalmia	ORPHA:1692
Microphthalmia, Syndromic 2	Retinal detachment, Remnants of the hyaloid vascular system, Hypospadias, Septate vagina, Cryptor...	OMIM:300166
Cohen Syndrome	Microphthalmia	ORPHA:193
Phace Association	Microphthalmia, Optic nerve hypoplasia	OMIM:606519
Cat Eye Syndrome	Microphthalmia, Umbilical hernia	OMIM:115470
Blepharophimosis, Ptosis, And Epicanthus Inversus	Microphthalmia	OMIM:110100
Stromme Syndrome	Microphthalmia, Optic nerve hypoplasia	OMIM:243605
Basel-Vanagaite-Smirin-Yosef Syndrome	Microphthalmia	ORPHA:464738
Incontinentia Pigmenti	Microphthalmia, Spina bifida occulta, Umbilical hernia	ORPHA:464
Trisomy 18	Microphthalmia, Anencephaly, Spina bifida	ORPHA:3380
Holoprosencephaly	Encephalocele, Anophthalmia, Spinal dysraphism, Branchial anomaly, Microphthalmia	ORPHA:2162
Papillorenal Syndrome	Microphthalmia	OMIM:120330
Fryns Syndrome	Microphthalmia	ORPHA:2059
Monosomy 9Q22.3	Microphthalmia, Umbilical hernia	ORPHA:77301
Cousin Syndrome	Hydranencephaly, Microphthalmia	OMIM:260660
Fanconi Anemia, Complementation Group F	Microphthalmia	OMIM:603467
Isolated Arrhinia	Microphthalmia	ORPHA:1134
Hallermann-Streiff Syndrome	Microphthalmia, Spina bifida	OMIM:234100
Oculo-Palato-Cerebral Syndrome	Retinal detachment, Remnants of the hyaloid vascular system	ORPHA:2714
Ohdo Syndrome, X-Linked	Microphthalmia	OMIM:300895
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Microphthalmia, Anophthalmia	ORPHA:2250
Premature Aging Syndrome, Penttinen Type	Microphthalmia	OMIM:601812
Marshall-Smith Syndrome	Optic nerve hypoplasia, Bilateral cryptorchidism, Cryptorchidism, Premature ventricular contracti...	OMIM:602535
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Encephalocele, Microphthalmia	OMIM:616300
Holoprosencephaly-Postaxial Polydactyly Syndrome	Encephalocele, Microphthalmia, Umbilical hernia	ORPHA:2166
2Q31.1 Microdeletion Syndrome	Microphthalmia	ORPHA:251014
Fanconi Anemia, Complementation Group E	Microphthalmia	OMIM:600901
1Q21.1 Microdeletion Syndrome	Microphthalmia	ORPHA:250989
Momo Syndrome	Bilateral microphthalmos	ORPHA:2563
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Microphthalmia	ORPHA:85167
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Microphthalmia	ORPHA:1236
Fanconi Anemia, Complementation Group A	Microphthalmia	OMIM:227650
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Microphthalmia	ORPHA:364577
Lymphedema-Distichiasis Syndrome	Microphthalmia	OMIM:153400
Basal Cell Nevus Syndrome 1	Microphthalmia, Spina bifida	OMIM:109400
Teebi-Shaltout Syndrome	Microphthalmia	OMIM:272950
Incontinentia Pigmenti	Hypoplasia of the fovea, Microphthalmia	OMIM:308300
Dubowitz Syndrome	Hypoplasia of the iris, Microphthalmia	OMIM:223370
Jacobsen Syndrome	Microphthalmia, Macular hypoplasia	OMIM:147791
Meckel Syndrome	Encephalocele, Anophthalmia, Anencephaly, Aplasia/Hypoplasia of the iris, Microphthalmia	ORPHA:564
Mycophenolate Mofetil Embryopathy	Microphthalmia	ORPHA:268249
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Microphthalmia, Optic nerve hypoplasia, Spina bifida	ORPHA:508498
Pallister-Hall Syndrome	Microphthalmia	OMIM:146510
Fanconi Anemia, Complementation Group C	Microphthalmia	OMIM:227645
Linear Nevus Sebaceus Syndrome	Microphthalmia	ORPHA:2612
Treacher-Collins Syndrome	Encephalocele, Microphthalmia, Branchial fistula	ORPHA:861
Acro-Renal-Ocular Syndrome	Microphthalmia, Optic disc hypoplasia	ORPHA:959
Acrofrontofacionasal Dysostosis 1	Microphthalmia	OMIM:201180
Steinfeld Syndrome	Microphthalmia	OMIM:184705
Trichothiodystrophy	Umbilical hernia, Bilateral microphthalmos	ORPHA:33364
Microphthalmia, Syndromic 9	Anophthalmia, Bilateral microphthalmos	OMIM:601186
Holoprosencephaly 9	Microphthalmia, Anophthalmia, Optic nerve hypoplasia	OMIM:610829
Oculodentodigital Dysplasia	Microphthalmia	OMIM:164200
Microgastria-Limb Reduction Defect Syndrome	Microphthalmia, Anophthalmia	ORPHA:2538
Holoprosencephaly 7	Occipital meningocele, Microphthalmia, Bilateral microphthalmos	OMIM:610828
Fanconi Anemia, Complementation Group L	Microphthalmia	OMIM:614083
Fanconi Anemia	Aplasia/Hypoplasia of the iris, Microphthalmia, Umbilical hernia, Spina bifida	ORPHA:84
Rothmund-Thomson Syndrome, Type 2	Microphthalmia	OMIM:268400
Fanconi Anemia, Complementation Group D2	Microphthalmia	OMIM:227646
Oculocerebrorenal Syndrome Of Lowe	Buphthalmos, Microphthalmia, Umbilical hernia	ORPHA:534
Meckel Syndrome, Type 1	Microphthalmia, Occipital encephalocele, Anencephaly, Large placenta	OMIM:249000
Kenny-Caffey Syndrome, Type 2	Microphthalmia	OMIM:127000
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Microphthalmia, Anophthalmia	ORPHA:2526
Fraser Syndrome 2	Microphthalmia	OMIM:617666
Aicardi Syndrome	Microphthalmia, Spina bifida	OMIM:304050
22Q11.2 Deletion Syndrome	Spina bifida, Meningocele, Occipital myelomeningocele, Umbilical hernia, Microphthalmia	ORPHA:567
Mosaic Variegated Aneuploidy Syndrome	Microphthalmia	ORPHA:1052
Hallermann-Streiff Syndrome	Microphthalmia	ORPHA:2108
Bartsocas-Papas Syndrome 1	Microphthalmia	OMIM:263650
Cockayne Syndrome B	Hypoplasia of the iris, Microphthalmia	OMIM:133540
Norrie Disease	Retinal detachment, Remnants of the hyaloid vascular system, Cryptorchidism, Optic atrophy, Erect...	ORPHA:649
Phace Syndrome	Microphthalmia, Lens coloboma, Optic nerve hypoplasia	ORPHA:42775
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Microphthalmia	OMIM:616975
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Microphthalmia	OMIM:617925
Microphthalmia With Limb Anomalies	Microphthalmia, True anophthalmia	ORPHA:1106
Aicardi Syndrome	Microphthalmia	ORPHA:50
Holoprosencephaly 2	Remnants of the hyaloid vascular system, Chorioretinal coloboma, Cyclopia, Iris coloboma, Anterio...	OMIM:157170
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Microphthalmia	OMIM:620005
Frontofacionasal Dysplasia	Cranium bifidum occultum, Microphthalmia	OMIM:229400
Chromosome 13Q14 Deletion Syndrome	Microphthalmia, Umbilical hernia	OMIM:613884
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Microphthalmia	OMIM:601552
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia, Phthisis bulbi	OMIM:259770
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Microphthalmia	OMIM:609945
Cockayne Syndrome Type 3	Microphthalmia	ORPHA:90324
Full Nf2-Related Schwannomatosis	Remnants of the hyaloid vascular system	ORPHA:637
Neu-Laxova Syndrome 1	Spina bifida, Short umbilical cord, Small placenta, Hydranencephaly, Microphthalmia	OMIM:256520
Monosomy 9P	Microphthalmia	ORPHA:261112
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Branchial cyst, Microphthalmia	OMIM:620186
Mend Syndrome	Microphthalmia	ORPHA:401973
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Cranium bifidum occultum, Microphthalmia	ORPHA:306542
Fryns Syndrome	Microphthalmia	OMIM:229850
Focal Dermal Hypoplasia	Anophthalmia, Myelomeningocele, Umbilical hernia, Aniridia, Microphthalmia, Spina bifida occulta	OMIM:305600
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Buphthalmos, Microphthalmia, Hypoplasia of the retina	OMIM:253280
Myhre Syndrome	Microphthalmia	OMIM:139210
Microphthalmia With Linear Skin Defects Syndrome	Microphthalmia, Anophthalmia	ORPHA:2556
Roberts Syndrome	Microphthalmia	ORPHA:3103
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Microphthalmia	ORPHA:3186
Bosma Arhinia Microphthalmia Syndrome	Microphthalmia	OMIM:603457
Fontaine Progeroid Syndrome	Microphthalmia, Umbilical hernia	OMIM:612289
Cockayne Syndrome	Microphthalmia	ORPHA:191
Fraser Syndrome	Encephalocele, Anophthalmia, Myelomeningocele, Umbilical hernia, Microphthalmia	ORPHA:2052
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Bilateral microphthalmos, Optic nerve hypoplasia	ORPHA:468631
Proboscis Lateralis	Microphthalmia, Anophthalmia, Optic nerve hypoplasia	ORPHA:141099
Monosomy 13Q14	Microphthalmia	ORPHA:1587
Skin Creases, Congenital Symmetric Circumferential, 2	Microphthalmia	OMIM:616734
Charge Syndrome	Microphthalmia, Anophthalmia	ORPHA:138
Neuroocular Syndrome	Lens coloboma, Remnants of the hyaloid vascular system, Iris coloboma	OMIM:619539
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Microphthalmia	OMIM:608670
Adams-Oliver Syndrome 1	Encephalocele, Microphthalmia	OMIM:100300
Yunis-Varon Syndrome	Microphthalmia, Bilateral microphthalmos	ORPHA:3472
Tetraamelia Syndrome 1	Microphthalmia	OMIM:273395
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Microphthalmia	OMIM:612474
Renpenning Syndrome 1	Microphthalmia	OMIM:309500
Charge Syndrome	Microphthalmia, Anophthalmia, Umbilical hernia, Unilateral microphthalmos	OMIM:214800
Fraser Syndrome 1	Encephalocele, Myelomeningocele, Anophthalmia, Bilateral microphthalmos	OMIM:219000
Witteveen-Kolk Syndrome	Microphthalmia, Branchial fistula	OMIM:613406
Autosomal Dominant Kenny-Caffey Syndrome	Bilateral microphthalmos	ORPHA:93325
Hydrolethalus Syndrome 1	Microphthalmia, Anencephaly	OMIM:236680
8Q24.3 Microdeletion Syndrome	Branchial cyst, Bilateral microphthalmos, Spina bifida occulta, Optic nerve hypoplasia	ORPHA:508488
Pallister-Hall Syndrome	Microphthalmia, Umbilical hernia	ORPHA:672
Lowe Oculocerebrorenal Syndrome	Microphthalmia	OMIM:309000
Holoprosencephaly 1	Microphthalmia	OMIM:236100
Branchiooculofacial Syndrome	Microphthalmia, Branchial anomaly, Anophthalmia	OMIM:113620
Microphthalmia, Syndromic 6	Microphthalmia, Anophthalmia	OMIM:607932
Treacher Collins Syndrome 1	Bilateral microphthalmos	OMIM:154500
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hypoplasia of the iris, Microphthalmia	OMIM:175780
Mowat-Wilson Syndrome	Microphthalmia	OMIM:235730
Roberts-Sc Phocomelia Syndrome	Microphthalmia, Frontal encephalocele	OMIM:268300
Townes-Brocks Syndrome	Microphthalmia	ORPHA:857
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Microphthalmia	ORPHA:261537
Mowat-Wilson Syndrome	Microphthalmia	ORPHA:2152
Craniofacial Microsomia 1	Microphthalmia, Occipital encephalocele, Anophthalmia, Branchial anomaly	OMIM:164210
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Microphthalmia	ORPHA:261552
Microphthalmia, Syndromic 1	Microphthalmia, Anophthalmia	OMIM:309800

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 Pdcd7

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

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Pdcd7.

No publications found that use IMPC mice or data for Pdcd7.

Order Mouse and ES Cells

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
Pdcd7^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Pdcd7^em1(IMPC)Mbp	Exon Deletion	Mice, Tissue
Pdcd7^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, 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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