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Gene: Cand1 MGI:1261820

Gene Summary

Name:

cullin associated and neddylation disassociated 1

Synonyms:

D10Ertd516e, 6330512O03Rik, 2310038O07Rik

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
embryonic growth retardation	Cand1^em1(IMPC)Mbp	HOM	E15.5	0.00
abnormal kidney morphology	Cand1^em1(IMPC)Mbp	HET	Late adult	0.00
edema	Cand1^em1(IMPC)Mbp	HET	E15.5	0.00
enlarged spleen	Cand1^em1(IMPC)Mbp	HET	Late adult	0.00
abnormal uterus morphology	Cand1^em1(IMPC)Mbp	HET	Early adult	0.00
enlarged seminal vesicle	Cand1^em1(IMPC)Mbp	HET	Late adult	0.00
abnormal skin morphology	Cand1^em1(IMPC)Mbp	HET	Late adult	0.00
decreased heart rate	Cand1^em1(IMPC)Mbp	HET	Late adult	3.02×10^-05
enlarged gallbladder	Cand1^em1(IMPC)Mbp	HET	Late adult	0.00
abnormal gallbladder morphology	Cand1^em1(IMPC)Mbp	HET	Late adult	0.00
abnormal lymph node morphology	Cand1^em1(IMPC)Mbp	HET	Late adult	0.00
abnormal ovary morphology	Cand1^em1(IMPC)Mbp	HET	Late adult	0.00
small heart	Cand1^em1(IMPC)Mbp	HET	Late adult	0.00
enlarged heart	Cand1^em1(IMPC)Mbp	HET	Late adult	0.00
enlarged lymph nodes	Cand1^em1(IMPC)Mbp	HET	Late adult	0.00
abnormal heart morphology	Cand1^em1(IMPC)Mbp	HET	Late adult	0.00
edema	Cand1^em1(IMPC)Mbp	HOM	E15.5	0.00
increased fasting circulating glucose level	Cand1^em1(IMPC)Mbp	HET	Early adult	1.23×10^-09
preweaning lethality, complete penetrance	Cand1^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal placenta morphology	Cand1^em1(IMPC)Mbp	HET	E15.5	0.00
abnormal spleen morphology	Cand1^em1(IMPC)Mbp	HET	Late adult	0.00
small kidney	Cand1^em1(IMPC)Mbp	HET	Late adult	0.00
absent seminal vesicle	Cand1^em1(IMPC)Mbp	HET	Late adult	0.00
microphthalmia	Cand1^em1(IMPC)Mbp	HET	E15.5	0.00
abnormal craniofacial morphology	Cand1^em1(IMPC)Mbp	HOM	E15.5	0.00
abnormal placenta morphology	Cand1^em1(IMPC)Mbp	HOM	E15.5	0.00

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Gross Morphology Embryo E14.5-E15.5

Images

14 Images

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MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

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Human diseases caused by Cand1 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 Cand1 (0 diseases)
Human diseases predicted to be associated with Cand1 (1348 diseases)

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

The table below shows human diseases predicted to be associated to Cand1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Hepatic Venoocclusive Disease With Immunodeficiency	Abnormality of the liver, Endocardial fibrosis, Absence of lymph node germinal center	OMIM:235550
Uterine Anomalies	Bicornuate uterus, Abnormality of the uterus	OMIM:192000
Maturity-Onset Diabetes Of The Young, Type 3	Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young	OMIM:600496
Lipedema	Edema	OMIM:614103
Maturity-Onset Diabetes Of The Young, Type 10	Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis	OMIM:613370
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Anophthalmia, Microphthalmia	ORPHA:85275
Angioedema, Hereditary, 6	Facial edema, Edema of the dorsum of hands, Angioedema	OMIM:619363
Anemia, Congenital Dyserythropoietic, Type Ii	Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice	OMIM:224100
Hyperproinsulinemia	Hyperglycemia, Hyperinsulinemia	OMIM:616214
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Splenomegaly	ORPHA:2274
Beta-Thalassemia	Cholelithiasis, Hepatitis, Hypertrophic cardiomyopathy, Microcytic anemia, Splenomegaly, Abnormal...	ORPHA:848
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies	Hyperglycemia, Male hypogonadism, Glucose intolerance, Hypergonadotropic hypogonadism	OMIM:307500
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Ventricular hypertrophy, Congestive heart failure, Elevated circulating aspartate aminotransferas...	OMIM:619048
Sickle Cell Disease	Splenic infarction, Cholelithiasis, Increased red cell sickling tendency, Hemolytic anemia, Renal...	OMIM:603903
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Cryptorchidism, Bradycardia, Micropenis, Hyp...	OMIM:618815
Glycogen Storage Disease 0, Liver	Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia	OMIM:240600
Microphthalmia, Isolated, With Cataract 1	Microphthalmia	OMIM:156850
Atrial Standstill	Atrial standstill, Abnormal P wave, Cardiomyopathy, Congestive heart failure, Left ventricular no...	ORPHA:1344
Microphthalmia/Coloboma 6	Hypoplasia of the fovea, Optic disc hypoplasia, Bilateral microphthalmos	OMIM:613703
Ethanolaminosis	Cardiomegaly	OMIM:227150
Reticuloendotheliosis, X-Linked	Anemia, Jaundice, Hepatosplenomegaly, Lymphadenopathy	OMIM:312500
Microphthalmia, Isolated 1	Anophthalmia, Microphthalmia	OMIM:251600
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Splenomegaly, Cholecystitis, No...	OMIM:613470
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Alpha-Thalassemia	Cholelithiasis, Extramedullary hematopoiesis, Congestive heart failure, Microcytic anemia, Hemogl...	ORPHA:846
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Cholelithiasis, Splenomegaly, Cholecystitis, Reticulocytosis, Nonspherocytic h...	OMIM:235700
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:52416
Immunodeficiency 38 With Basal Ganglia Calcification	Axillary lymphadenopathy, Inguinal lymphadenopathy, Lymphadenopathy	OMIM:616126
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Abnormal lymph node morphology	OMIM:136580
Cholestasis, Progressive Familial Intrahepatic, 1	Epistaxis, Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jaundi...	OMIM:211600
Microphthalmia/Coloboma 4	Microphthalmia	OMIM:251505
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Chronic Atrial And Intestinal Dysrhythmia	Atrial flutter, Ventricular escape rhythm, Mitral regurgitation, Bicuspid aortic valve, Left atri...	OMIM:616201
Beta-Thalassemia Intermedia	Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, High-output conges...	ORPHA:231222
Squamous Cell Carcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99977
Microphthalmia, Isolated 2	Microphthalmia	OMIM:610093
Burkitt Lymphoma	Gastrointestinal hemorrhage, Abnormal lymph node morphology, Abnormality of the ovary, Abnormalit...	ORPHA:543
Gombo Syndrome	Microphthalmia	OMIM:233270
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Pyruvate Kinase Deficiency Of Red Cells	Cholelithiasis, Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Splenomegaly, Chol...	OMIM:266200
Gallbladder Disease 1	Hepatic fibrosis, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Portal...	OMIM:600803
Cardiomyopathy, Dilated, 1I	Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Car...	OMIM:604765
Atrial Fibrillation, Familial, 10	Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Permanent atrial fibrill...	OMIM:614022
Sinoatrial Node Dysfunction And Deafness	Increased heart rate variability, Syncope, Abnormal QRS complex, Bradycardia	OMIM:614896
Caroli Disease	Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Cholestasis, Ascit...	ORPHA:53035
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly, 3-Methylglutaconic aciduria	OMIM:619813
Spherocytosis, Type 1	Cholelithiasis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:182900
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Cholelithiasis, Hepatitis, Increased mean corpuscular hemoglobin concentration, Splenomegaly, Ret...	OMIM:194380
Trimethylaminuria	Splenomegaly, Trimethylaminuria, Neutropenia, Anemia, Tachycardia, Hypertension	OMIM:602079
Glycogen Storage Disease Iv	Hepatic failure, Cardiomyopathy, Ascites, Hepatosplenomegaly, Portal hypertension, Cirrhosis, Tub...	OMIM:232500
Nephronophthisis 19	Malformation of the hepatic ductal plate, Hepatic fibrosis, Nephronophthisis, Cholestasis, Stage ...	OMIM:616217
Hyperbiliverdinemia	Cholestasis, Cholelithiasis, Green urine, Decreased liver function	OMIM:614156
Mitochondrial Complex I Deficiency, Nuclear Type 39	Hypertrophic cardiomyopathy, Cryptorchidism, Cardiomegaly, Perimembranous ventricular septal defe...	OMIM:620135
Mitochondrial Complex I Deficiency, Nuclear Type 13	Hepatomegaly, Cardiac arrest, Hypertrophic cardiomyopathy, Bradycardia	OMIM:618235
Long Qt Syndrome 15	Ventricular bigeminy, Left ventricular noncompaction, 2:1 atrioventricular block, Sinus bradycard...	OMIM:616249
Benign Recurrent Intrahepatic Cholestasis	Cholestatic liver disease, Cholelithiasis, Elevated circulating hepatic transaminase concentratio...	ORPHA:65682
Immunodeficiency 104	Hepatomegaly, T lymphocytopenia, Splenomegaly, Lymphadenopathy	OMIM:608971
Hypereosinophilic Syndrome, Idiopathic	Restrictive cardiomyopathy, Endocardial fibrosis, Splenomegaly, Eosinophilia, Hepatomegaly, Myelo...	OMIM:607685
Biliary Atresia, Extrahepatic	Elevated circulating hepatic transaminase concentration, Portal fibrosis, Atretic gallbladder, Ci...	OMIM:210500
Pulmonary Nodular Lymphoid Hyperplasia	Mediastinal lymphadenopathy, Follicular hyperplasia, Plasmacytosis	ORPHA:60026
Myotonic Dystrophy 1	Cholelithiasis, Atrial flutter, Hypogonadism, First degree atrioventricular block, Testicular atr...	OMIM:160900
Hemochromatosis, Type 1	Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Congestive heart failure...	OMIM:235200
Protoporphyria, Erythropoietic, X-Linked	Cholelithiasis, Elevated circulating hepatic transaminase concentration, Iron deficiency anemia	OMIM:300752
Lymphatic Malformation 11	Pedal edema, Lymphedema	OMIM:619401
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia	OMIM:251700
Microphthalmia/Coloboma 7	Microphthalmia	OMIM:614497
Atrial Fibrillation, Familial, 18	Third degree atrioventricular block, Paroxysmal atrial fibrillation, Palpitations, Permanent atri...	OMIM:617280
Immunodeficiency 75 With Lymphoproliferation	Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Follicular hyperplasia...	OMIM:619126
Congenital Alveolar Capillary Dysplasia	Aortic valve stenosis, Hypoplastic left heart, Annular pancreas, Tetralogy of Fallot, Atrioventri...	ORPHA:210122
Hemochromatosis, Type 2B	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Conges...	OMIM:613313
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Carnitine-Acylcarnitine Translocase Deficiency	Ventricular hypertrophy, Hypotension, Atrioventricular block, Elevated circulating hepatic transa...	OMIM:212138
Testicular Regression Syndrome	Abnormal morphology of female internal genitalia, Decreased testicular size, Agonadism, Male pseu...	ORPHA:983
Hemochromatosis, Type 2A	Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure, Azoospermia, Splenomegaly, Hypo...	OMIM:602390
Cerebrooculofacioskeletal Syndrome 3	Edema, Microphthalmia	OMIM:616570
Myopathy, Myofibrillar, 1	Restrictive cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Hypertro...	OMIM:601419
Microphthalmia/Coloboma 5	Anophthalmia, Bilateral microphthalmos, Microphthalmia	OMIM:611638
Low Phospholipid-Associated Cholelithiasis	Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Elevated circulating hepatic transam...	ORPHA:69663
Hereditary Spherocytosis	Spontaneous hemolytic crises, Cholelithiasis, Restrictive cardiomyopathy, Increased mean corpuscu...	ORPHA:822
Congenital Heart Block	Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block...	ORPHA:60041
Microphthalmia/Coloboma 3	Microphthalmia	OMIM:610092
Coenzyme Q10 Deficiency, Primary, 7	Hypoplastic left heart, Bradycardia, Hypertrophic cardiomyopathy, Ventricular septal defect	OMIM:616276
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Microphthalmia/Coloboma 10	Anophthalmia, Microphthalmia	OMIM:616428
Multifocal Atrial Tachycardia	Hypotension, Atrial flutter, Abnormal left ventricular function, Hypertrophic cardiomyopathy, Eff...	ORPHA:3282
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hepatitis, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Autoimmune th...	ORPHA:444463
Wild Type Attr Amyloidosis	Nephropathy, Aortic valve stenosis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnorm...	ORPHA:330001
Gcgr-Related Hyperglucagonemia	Cholelithiasis, Neoplasm of the pancreas, Abnormal biliary tract morphology	ORPHA:438274
Gaucher Disease Type 1	Splenic infarction, Cholelithiasis, Hepatic failure, Ascites, Hepatosplenomegaly, Hypersplenism, ...	ORPHA:77259
Preeclampsia/Eclampsia 1	Intrauterine growth retardation, Edema	OMIM:189800
Long Qt Syndrome 16	Second degree atrioventricular block, T-wave alternans, Perimembranous ventricular septal defect,...	OMIM:618782
Sick Sinus Syndrome 2	Aortic regurgitation, Left ventricular noncompaction, Torsade de pointes, Paroxysmal atrial fibri...	OMIM:163800
Congenital Toxoplasmosis	Elevated circulating hepatic transaminase concentration, Ascites, Cardiomegaly, Anemia, Lymphaden...	ORPHA:858
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia	OMIM:206400
Sclerosing Cholangitis, Neonatal	Hepatic bridging fibrosis, Hepatic failure, Portal fibrosis, Biliary cirrhosis, Cholestasis, Asci...	OMIM:617394
Dehydrated Hereditary Stomatocytosis	Cholelithiasis, Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemog...	ORPHA:3202
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Cholelithiasis, Hypertrophic cardiomyopathy, Ventricular septal defect, Persistent fetal circulat...	OMIM:618775
Cholestasis, Benign Recurrent Intrahepatic, 2	Hepatomegaly, Intrahepatic cholestasis, Cholelithiasis, Jaundice	OMIM:605479
Atrial Septal Defect 6	Atrial fibrillation, Atrial septal defect, Bradycardia	OMIM:613087
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia	Sick sinus syndrome, Patent foramen ovale, Bradycardia	OMIM:617182
Nanophthalmos	Microphthalmia	ORPHA:35612
Timothy Syndrome	Atrioventricular block, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Car...	OMIM:601005
Autoinflammation With Episodic Fever And Lymphadenopathy	Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly	OMIM:618852
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Hypertrophic cardiomyopathy, Elevated urine 2,3-dihydroxy-2-methylbutanoic acid level, Bradycardi...	OMIM:616277
Nanophthalmos 4	Microphthalmia	OMIM:615972
Sudden Cardiac Failure, Infantile	Congestive heart failure, Hypertrophic cardiomyopathy, Bradycardia, Myocarditis, Sudden cardiac d...	OMIM:617222
Mu-Heavy Chain Disease	Nephropathy, Bence Jones Proteinuria, Abnormal B cell count, Splenomegaly, Anemia, Lymphadenopath...	ORPHA:100024
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Myofiber disarray, Left bundle branch block, Hepatomegaly, Ventricular f...	OMIM:115197
Microphthalmia, Isolated 4	Microphthalmia	OMIM:613094
Congenitally Corrected Transposition Of The Great Arteries	Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Arrhyt...	ORPHA:216694
Coproporphyria, Hereditary	Elevated urinary coproporphyrin level, Increased urinary porphobilinogen, Splenomegaly, Jaundice,...	OMIM:121300
Diabetes Mellitus, Transient Neonatal, 1	Transient neonatal diabetes mellitus, Hyperglycemia	OMIM:601410
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Cardiomegaly, Macroorchidism, Congestive heart failure	OMIM:300886
Autosomal Erythropoietic Protoporphyria	Microcytic anemia, Cholelithiasis, Cirrhosis, Decreased liver function	ORPHA:79278
Cardiomyopathy, Familial Hypertrophic, 27	Impaired myocardial contractility, Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concen...	OMIM:618052
Infantile Sialic Acid Storage Disease	Congestive heart failure, Ascites, Splenomegaly, Cardiomegaly, Vacuolated lymphocytes, Hepatomega...	OMIM:269920
Parenteral Nutrition-Associated Cholestasis	Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc...	ORPHA:567983
Congenital Bile Acid Synthesis Defect Type 1	Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Neonatal ch...	ORPHA:79301
Cardiomyopathy, Familial Hypertrophic, 6	Aborted sudden cardiac death, Atrioventricular block, Congestive heart failure, Hypertrophic card...	OMIM:600858
Gallbladder Disease 4	Cholelithiasis	OMIM:611465
Cholestasis, Progressive Familial Intrahepatic, 12	Cholestasis, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Protein...	OMIM:620010
Isolated Biliary Atresia	Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Decreased liver fun...	ORPHA:30391
Combined Oxidative Phosphorylation Deficiency 10	Hypertrophic cardiomyopathy, Ascites, Cardiomegaly, Bradycardia, Pericardial effusion	OMIM:614702
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Left anterior fascicular block, Dilated cardiomyopathy, Atrial flutter, Prolonged QTc interval, C...	OMIM:616117
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:86893
Familial Atrial Myxoma	Pulmonic valve myxoma, Bacterial endocarditis, Congestive heart failure, Tricuspid regurgitation,...	ORPHA:615
Hemoglobin H Disease	HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia	OMIM:613978
Cholestasis, Progressive Familial Intrahepatic, 3	Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Portal fibrosi...	OMIM:602347
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Combined Oxidative Phosphorylation Deficiency 59	Cholelithiasis, Congestive heart failure, Hypertrophic cardiomyopathy, Dicarboxylic aciduria, Sev...	OMIM:620646
Congenital Disorder Of Glycosylation, Type Ik	Hypogonadism, Hepatomegaly, Splenomegaly, Cardiomyopathy	OMIM:608540
Peroxisome Biogenesis Disorder 12A (Zellweger)	Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Abnorma...	OMIM:614886
Glycogen Storage Disease Xii	Normocytic anemia, Cholelithiasis, Splenomegaly, Cholecystitis, Hepatomegaly, Decreased erythrocy...	OMIM:611881
Mirizzi Syndrome	Cholelithiasis, Elevated circulating hepatic transaminase concentration, Dark urine, Jaundice, Pa...	ORPHA:521219
46,Xy Sex Reversal 3	Clitoral hypertrophy, Gonadal dysgenesis, Ambiguous genitalia, Exaggerated rugosity of the labia ...	OMIM:612965
Generalized Pseudohypoaldosteronism Type 1	Hypovolemic shock, Cholelithiasis, Recurrent tonsillitis, Arrhythmia	ORPHA:171876
Sialuria	Hepatomegaly, Hepatosplenomegaly, Elevated circulating hepatic transaminase concentration, Cholel...	ORPHA:3166
Proteasome-Associated Autoinflammatory Syndrome 5	Hepatomegaly, Splenomegaly	OMIM:619175
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hemophagocytosis, Splenomegaly, Anemia, Lymphadenopathy, Neutropenia, Thrombocytopenia, Hepatomeg...	OMIM:603552
Tyrosinemia Type 1	Generalized aminoaciduria, Acute hepatic failure, Splenomegaly, Hepatomegaly, Hepatocellular carc...	ORPHA:882
Kerion Celsi	Lymphadenopathy	ORPHA:499
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2	Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia	OMIM:611938
Pentalogy Of Cantrell	Polysplenia, Tetralogy of Fallot, Abnormal pericardium morphology, Absent gallbladder, Ventricula...	ORPHA:1335
Cataract 11, Multiple Types	Microphthalmia	OMIM:610623
Sickle Cell Anemia	Splenic infarction, Cholelithiasis, Pigment gallstones, Hypochromic anemia, Increased mean corpus...	ORPHA:232
Protoporphyria, Erythropoietic, 1	Cholelithiasis, Hemolytic anemia, Hepatic failure	OMIM:177000
Encephalopathy Due To Prosaposin Deficiency	Hepatomegaly, Splenomegaly	ORPHA:139406
Cardiomyopathy, Dilated, 1D	Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Left vent...	OMIM:601494
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Dysplastic testes, Partial development of the penile shaft, Cryptorchidism, Testicular dysgenesis...	OMIM:608800
Acitretin/Etretinate Embryopathy	Third degree atrioventricular block, Atrioventricular canal defect, Conotruncal defect, Hypoplasi...	ORPHA:40366
Epilepsy, Idiopathic Generalized, Susceptibility To, 18	Bradycardia	OMIM:619521
Mast Cell Sarcoma	Mastocytosis, Splenomegaly, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy	ORPHA:66661
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ...	OMIM:615559
Glycogen Storage Disease Of Heart, Lethal Congenital	Hypotension, Cardiomyopathy, Congestive heart failure, Biventricular hypertrophy, Hypertrophic ca...	OMIM:261740
Ovarian Dysgenesis 6	Hypoplasia of the uterus, Hypergonadotropic hypogonadism	OMIM:618078
Alpha-Heavy Chain Disease	Ascites, Splenomegaly, Anemia, Lymphadenopathy, Hepatomegaly	ORPHA:100025
Microphthalmia, Syndromic 16	Anophthalmia, Microphthalmia	OMIM:611038
Triosephosphate Isomerase Deficiency	Normocytic anemia, Cholelithiasis, Congestive heart failure, Splenomegaly, Cholecystitis, Macrocy...	OMIM:615512
Lipoyltransferase 1 Deficiency	Elevated circulating hepatic transaminase concentration, Decreased liver function, Pulmonary arte...	OMIM:616299
Attrv30M Amyloidosis	Nephropathy, Atrioventricular block, Cardiomyopathy, Cardiomegaly, Arrhythmia, Abnormal renal phy...	ORPHA:85447
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia	Sick sinus syndrome, Bradycardia	OMIM:617173
Renal-Hepatic-Pancreatic Dysplasia 1	Aortic valve stenosis, Cholestasis, Cirrhosis, Atrial septal defect, Hepatomegaly, Polycystic kid...	OMIM:208540
Primary Sclerosing Cholangitis	Cholestasis, Acute hepatic failure, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrho...	ORPHA:171
Galactose Epimerase Deficiency	Aminoaciduria, Hepatomegaly, Jaundice, Splenomegaly	ORPHA:79238
46,Xx Ovotesticular Difference Of Sex Development	Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno...	ORPHA:2138
Sandhoff Disease	Hepatomegaly, Splenomegaly, Congestive heart failure	ORPHA:796
Galactosemia Iii	Aminoaciduria, Galactosuria, Splenomegaly, Hepatomegaly, Jaundice	OMIM:230350
Amyloidosis, Hereditary Systemic 2	Nephropathy, Cholestasis, Splenomegaly, Proteinuria, Hematuria, Hepatomegaly, Nephrotic syndrome,...	OMIM:105200
Distal Duplication 5Q	Cryptorchidism, Ventricular septal defect, Aplasia/Hypoplasia of the gallbladder, Dextrocardia, H...	ORPHA:96097
Adenocarcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99976
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Recurrent pancreatitis, Splenomegaly	OMIM:118830
Tako-Tsubo Cardiomyopathy	Dilatation of the ventricular cavity, Mitral regurgitation, Arrhythmia, Ventricular fibrillation,...	ORPHA:66529
Cirrhotic Cardiomyopathy	Congestive heart failure, Ascites, Fourth heart sound, Ventricular arrhythmia, Elevated pulmonary...	ORPHA:57777
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Hypersplenism, Pancytopenia, Splenomegaly, Decreased helper T cell proportion	OMIM:183350
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microphthalmia	ORPHA:2432
Cholestasis-Lymphedema Syndrome	Gastrointestinal hemorrhage, Portal hypertension, Splenomegaly, Neonatal cholestatic liver diseas...	ORPHA:1414
Hereditary Elliptocytosis	Cholelithiasis, Stomatocytosis, Abnormal erythrocyte morphology, Elliptocytosis, Splenomegaly, Re...	ORPHA:288
Neuraminidase Deficiency	Urinary excretion of sialylated oligosaccharides, Cardiomyopathy, Ascites, Increased urinary O-li...	OMIM:256550
Glycogen Storage Disease Vii	Cholelithiasis, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Exercise-induced myoglo...	OMIM:232800
Pseudo-Torch Syndrome 2	Elevated circulating hepatic transaminase concentration, Secundum atrial septal defect, Ascites, ...	OMIM:617397
Coronary Arterial Fistula	Aortic valve stenosis, Bacterial endocarditis, Continuous heart murmur, Congestive heart failure,...	ORPHA:2041
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Anemia, Thrombocytopenia, Neutropenia, He...	OMIM:615285
Persistent Polyclonal B-Cell Lymphocytosis	Hepatomegaly, Lymphocytosis, Splenomegaly	OMIM:606445
Neonatal Severe Primary Hyperparathyroidism	Aminoaciduria, Hepatomegaly, Splenomegaly	ORPHA:417
Congenitally Uncorrected Transposition Of The Great Arteries	Congestive heart failure, Biventricular hypertrophy, Dextrotransposition of the great arteries, A...	ORPHA:860
Cardiomyopathy, Dilated, 1A	Dilated cardiomyopathy, Atrial flutter, Third degree atrioventricular block, Second degree atriov...	OMIM:115200
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Abnormally low T cell receptor excision circle level, Genital ulcers, Lymphopenia, Lymph node hyp...	OMIM:602450
Leukocyte Adhesion Deficiency, Type Iii	Epistaxis, Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leuk...	OMIM:612840
Kimura Disease	Eosinophilia, Abnormal salivary gland morphology, Follicular hyperplasia, Lymphadenopathy	ORPHA:482
Congenital Bile Acid Synthesis Defect Type 4	Cholestatic liver disease, Hematochezia, Cholelithiasis, Elevated circulating hepatic transaminas...	ORPHA:79095
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Fluctuating splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia in presence o...	OMIM:619220
Attrv122I Amyloidosis	Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti...	ORPHA:85451
8P Inverted Duplication/Deletion Syndrome	Precocious puberty, Abnormal heart morphology, Tetralogy of Fallot, Cryptorchidism, Hydronephrosi...	ORPHA:96092
Fixed Subaortic Stenosis	Aortic regurgitation, Bacterial endocarditis, Congestive heart failure, Abnormal heart morphology...	ORPHA:3092
Hypertriglyceridemia, Transient Infantile	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Spl...	OMIM:614480
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Decreased proportion of class-switched memory B cells, Increased proportion of tran...	OMIM:615513
Heme Oxygenase 1 Deficiency	Nephritis, Diffuse alveolar hemorrhage, Epistaxis, Cervical lymphadenopathy, Elevated circulating...	OMIM:614034
Coenzyme Q10 Deficiency, Primary, 5	Left ventricular hypertrophy, Bradycardia	OMIM:614654
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Precocious puberty, Postprandial hyperglycemia, Clitoral hypertrophy, Long penis, Insulin-resista...	OMIM:262190
Follicular Lymphoma	Mediastinal lymphadenopathy, Splenomegaly, Abnormal peritoneum morphology, Lymphadenopathy	ORPHA:545
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Myofibe...	OMIM:619897
Immunodeficiency 76	Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia	OMIM:619164
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration, Cardiomegaly, Ve...	OMIM:600649
Lymphoproliferative Syndrome 3	Reduced natural killer cell count, Hepatosplenomegaly, Lymphadenopathy	OMIM:618261
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Nephrocalcinosis, Female hypogonadism, Male hypogonadism, Cholelithiasis, Chronic active hepatiti...	OMIM:240300
Hemoglobin D Disease	Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno...	ORPHA:90039
Meckel Syndrome, Type 7	Aortic valve stenosis, Multicystic kidney dysplasia, Biliary cirrhosis, Cholestasis, Hepatospleno...	OMIM:267010
Adams-Oliver Syndrome 4	Umbilical hernia, Microphthalmia	OMIM:615297
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Neutrophilia, Elevated circulating hepatic transaminase concentration, Abnormal lymph node morpho...	ORPHA:54251
Hyperbilirubinemia, Shunt, Primary	Erythroid hyperplasia, Splenomegaly, Reticulocytosis, Anemia of inadequate production, Hepatomega...	OMIM:237800
Premature Ovarian Failure 3	Hypoplasia of the uterus	OMIM:608996
Hurler-Scheie Syndrome	Cardiomyopathy, Abnormal heart valve morphology, Splenomegaly, Abnormality of the tonsils, Hepato...	ORPHA:93476
Bile Acid Synthesis Defect, Congenital, 3	Hepatic bridging fibrosis, Hematochezia, Intrahepatic cholestasis, Hepatic failure, Hepatitis, El...	OMIM:613812
Hereditary Amyloidosis With Primary Renal Involvement	Nephropathy, Abnormal urinary electrolyte concentration, Abnormal lymph node morphology, Hepatosp...	ORPHA:85450
46,Xy Sex Reversal 11	Vanishing testis, Aplasia of the uterus, Urogenital sinus anomaly, Gonadal dysgenesis with female...	OMIM:273250
Immunodeficiency 52	Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell count, Splenomegaly, De...	OMIM:617514
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Nodular goiter, Chronic noninfectious lymphadenopathy, Goiter, Abnormal lymph node morphology	ORPHA:97290
Crimean-Congo Hemorrhagic Fever	Pancytopenia, Retinal hemorrhage, Hematuria, Neutrophilia, Hepatomegaly, Tachycardia, Jaundice, E...	ORPHA:99827
Familial Papillary Or Follicular Thyroid Carcinoma	Nodular goiter, Chronic noninfectious lymphadenopathy, Goiter, Abnormal lymph node morphology	ORPHA:319487
Desmoplastic Small Round Cell Tumor	Ascites, Anemia, Lymphadenopathy, Testicular neoplasm, Abnormal peritoneum morphology, Hepatomega...	ORPHA:83469
Pancreatic Colipase Deficiency	Exocrine pancreatic insufficiency, Cholelithiasis, Megaloblastic anemia	ORPHA:309108
Sea-Blue Histiocyte Disease	Sea-blue histiocytosis, Elevated circulating aspartate aminotransferase concentration, Splenomega...	OMIM:269600
Neonatal Lupus Erythematosus	Atrioventricular block, Dilated cardiomyopathy, Hepatic failure, Elevated circulating hepatic tra...	ORPHA:398124
Erythroleukemia, Familial, Susceptibility To	Leukemia, Erythroid hyperplasia, Splenomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, ...	OMIM:133180
Schnitzler Syndrome	Vasculitis, Leukocytosis, Splenomegaly, Anemia, Lymphadenopathy, Hepatomegaly	ORPHA:37748
Congenital Fibrinogen Deficiency	Hemorrhagic ovarian cyst, Decreased testicular size, Left ventricular hypertrophy, Splenic ruptur...	ORPHA:335
Mucopolysaccharidosis, Type Iiib	Heparan sulfate excretion in urine, Splenomegaly, Cardiomegaly, Hepatomegaly, Asymmetric septal h...	OMIM:252920
Cystic Echinococcosis	Cholestatic liver disease, Peritoneal abscess, Abnormality of the testis size, Elevated circulati...	ORPHA:400
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, Splenomegaly, Decre...	OMIM:300853
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Hepatomegaly, Fetal ascites, Splenomegaly	OMIM:619462
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Elevated circulating aspartate aminotra...	OMIM:619658
Beta-Thalassemia, Dominant Inclusion Body Type	Persistence of hemoglobin F, Microcytic anemia, Increased HbA2 hemoglobin, Splenomegaly, Erythroc...	OMIM:603902
Paroxysmal Extreme Pain Disorder	Tachycardia, Bradycardia	OMIM:167400
Cholestasis, Progressive Familial Intrahepatic, 10	Portal fibrosis, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Ele...	OMIM:619868
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Splenomegaly, Decreased proportion of class-switched memory B cells, Glomerulonephritis, Lymphade...	OMIM:619375
Fryns Microphthalmia Syndrome	Anophthalmia, Neural tube defect, Microphthalmia	OMIM:600776
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Ascites, Abnormality of the ureter, Splenomegaly, Anemia, Hypoplasia of penis, Hypospadias	ORPHA:1046
Symptomatic Form Of Hfe-Related Hemochromatosis	Cardiomyopathy, Congestive heart failure, Portal hypertension, Splenomegaly, Cardiomegaly, Hypogo...	ORPHA:465508
46,Xy Sex Reversal 7	Sex reversal, Hypoplasia of the fallopian tube, Streak ovary, Abnormal epididymis morphology, Gon...	OMIM:233420
Ras-Associated Autoimmune Leukoproliferative Disorder	Leukemia, Pancytopenia, Splenomegaly, Follicular hyperplasia, Lymphocytosis, Neutropenia, Monocyt...	OMIM:614470
Arterial Calcification, Generalized, Of Infancy, 2	Nephrocalcinosis, Cardiogenic shock, Sinus tachycardia, Congestive heart failure, Tricuspid regur...	OMIM:614473
Gaucher Disease Type 2	Hepatomegaly, Cardiac arrest, Splenomegaly	ORPHA:77260
Pseudo-Torch Syndrome 3	Acute kidney injury, Lymphadenitis, Leukocytosis, Proteinuria, Cardiomegaly, Congenital thrombocy...	OMIM:618886
Pfapa Syndrome	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:42642
Meckel Syndrome, Type 6	Hepatic fibrosis, Horseshoe kidney, Absent gallbladder, Hepatic cysts, Renal cyst, Abnormal inter...	OMIM:612284
Wolman Disease	Hepatomegaly, Splenomegaly, Acute hepatic failure	OMIM:620151
Immunodeficiency 42	Hepatomegaly, Hypoplasia of the thymus, Splenomegaly	OMIM:616622
Fish-Eye Disease	Hepatomegaly, Angina pectoris, Splenomegaly, Lymphadenopathy	ORPHA:79292
Idiopathic Congenital Hypothyroidism	Prolonged neonatal jaundice, Bradycardia	ORPHA:95717
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Cervica...	OMIM:618534
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased B cell count, Hepatosplenomegaly, Lymphadenopathy, Increased proportion of memory T cells	OMIM:618982
Immunodeficiency With Hyper-Igm, Type 5	Epididymitis, Lymphadenopathy	OMIM:608106
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	Hypogonadism, Arrhythmia, Cardiomyopathy, Bradycardia	OMIM:609286
Cholestasis, Progressive Familial Intrahepatic, 9	Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta...	OMIM:619849
Microphthalmia, Isolated 6	Microphthalmia	OMIM:613517
Adams-Oliver Syndrome 6	Hepatic fibrosis, Renal hypoplasia, Tricuspid regurgitation, Portal hypertension, Splenomegaly, T...	OMIM:616589
Neurooculocardiogenitourinary Syndrome	Bilateral cryptorchidism, Tricuspid regurgitation, Patent foramen ovale, Ventricular septal defec...	OMIM:618652
Progressive Familial Intrahepatic Cholestasis	Hepatomegaly, Jaundice, Cholestasis, Splenomegaly	ORPHA:172
Pulmonary Edema Of Mountaineers, Susceptibility To	Pulmonary edema, Edema	OMIM:178400
Xk Aprosencephaly Syndrome	Polyhydramnios, Microphthalmia	ORPHA:3469
Pleural Mesothelioma	Hepatomegaly, Abnormal cardiovascular system physiology, Lymphadenopathy	ORPHA:50251
Carnitine Deficiency, Systemic Primary	Cardiomyopathy, Dicarboxylic aciduria, Hypertrophic cardiomyopathy, Congestive heart failure, Ele...	OMIM:212140
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Ventricular escape rhythm, Patent foramen ovale, Arrhythmia, Bradycardia, Sick sinus syndrome, Pr...	ORPHA:542306
Tropical Endomyocardial Fibrosis	Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur...	ORPHA:75565
Sepsis In Premature Infants	Hypotension, Oliguria, Decreased liver function, Reversible renal failure, Splenomegaly, Leukocyt...	ORPHA:90051
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Anemia	OMIM:613101
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin	ORPHA:231393
Familial Short Qt Syndrome	Atrioventricular block, Shortened QT interval, Palpitations, Syncope, Bradycardia, Ventricular ar...	ORPHA:51083
Combined Oxidative Phosphorylation Deficiency 8	Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Cardiomegaly, Congestive...	OMIM:614096
American Trypanosomiasis	Cardiomyopathy, Congestive heart failure, Splenomegaly, Arrhythmia, Lymphadenopathy, Myocarditis,...	ORPHA:3386
Congenital Heart Defects, Multiple Types, 3	Atrioventricular block, Abnormal heart morphology, Tetralogy of Fallot, Atrioventricular dissocia...	OMIM:614954
Immunodeficiency 16	Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly	OMIM:615593
Loeffler Endocarditis	Aortic valve stenosis, Restrictive cardiomyopathy, Mitral regurgitation, Arrhythmia, Myocardial e...	ORPHA:75566
Complete Atrioventricular Septal Defect	Abnormal atrioventricular valve physiology, Abnormal cardiac atrium morphology, Elevated jugular ...	ORPHA:1329
Microphthalmia, Isolated 5	Cystoid macular edema, Microphthalmia	OMIM:611040
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive	Bradycardia	OMIM:620265
Foveal Hypoplasia 2	Hypoplasia of the fovea, Microphthalmia	OMIM:609218
Congenital Pulmonary Lymphangiectasia	Congestive heart failure, Tricuspid regurgitation, Ascites, Splenomegaly, Pulmonary arterial hype...	ORPHA:2414
Martinez-Frias Syndrome	Annular pancreas, Pancreatic hypoplasia, Hypoplasia of the gallbladder, Extrahepatic biliary duct...	OMIM:601346
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy	Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Paroxysmal atrial fibrillation...	OMIM:604772
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati...	OMIM:616828
Immunodeficiency 54	Reduced natural killer cell count, Splenomegaly, Adrenocorticotropic hormone excess, Lymphadenopa...	OMIM:609981
Autoimmune Lymphoproliferative Syndrome, Type Iia	Nephritis, Gastrointestinal hemorrhage, Vasculitis, Chronic noninfectious lymphadenopathy, Follic...	OMIM:603909
Aminoacylase 1 Deficiency	Bradycardia	OMIM:609924
Lymphatic Malformation 8	Generalized edema, Pleural effusion, Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion	OMIM:618773
Bile Acid Synthesis Defect, Congenital, 5	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Porta...	OMIM:616278
Aapoaiv Amyloidosis	Chronic kidney disease, Atrial flutter, Hypertrophic cardiomyopathy, Supravalvular aortic stenosi...	ORPHA:439232
Immunodeficiency 105	Reduced natural killer cell count, Absence of lymph node germinal center, Lymphopenia, Hepatosple...	OMIM:619924
Congenital Bile Acid Synthesis Defect Type 3	Hepatic failure, Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hepa...	ORPHA:79302
Granulomatous Slack Skin	Acute kidney injury, Nephrocalcinosis, Abnormal lymph node morphology	ORPHA:33111
Immunodeficiency 27A	Hepatosplenomegaly, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombocytosis, Anemia, Enlarged...	OMIM:209950
X-Linked Intellectual Disability-Plagiocephaly Syndrome	Bradycardia	ORPHA:2898
Lipodystrophy, Congenital Generalized, Type 4	Elevated circulating hepatic transaminase concentration, Splenomegaly, Hepatic steatosis, Prolong...	OMIM:613327
Tetragametic Chimerism	Clitoral hypertrophy, Bifid scrotum, Abnormality of the ovary, Blood group antigen abnormality, A...	ORPHA:199310
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Hypogonadism, Decreased testicular size, Abnormality of the ovary	ORPHA:1875
Retinitis Pigmentosa 89	Hepatic fibrosis, Micronodular cirrhosis, Hepatosplenomegaly, Intrahepatic bile duct dilatation, ...	OMIM:618955
Atrial Standstill 2	Atrial standstill, Absent P wave, Cardiomyopathy, Atrial cardiomyopathy, Dilatation of the ventri...	OMIM:615745
Immunodeficiency, Common Variable, 2	Abnormal T cell count, Splenomegaly, Follicular hyperplasia, Lymphadenopathy, Hepatomegaly	OMIM:240500
Cold Agglutinin Disease	Abnormal urinary color, Splenomegaly, Lymphadenopathy, Hepatomegaly, Hemolytic anemia	ORPHA:56425
Glycosylphosphatidylinositol Biosynthesis Defect 1	Hepatomegaly, Portal hypertension, Splenomegaly, Portal vein thrombosis	OMIM:610293
Cardiomyopathy, Familial Hypertrophic, 10	Systolic anterior motion of the mitral valve, Hypertrophic cardiomyopathy, Palpitations, Supraven...	OMIM:608758
Grfoma	Intrahepatic cholestasis, Cholelithiasis, Gastrointestinal hemorrhage, Pituitary adenoma, Abnorma...	ORPHA:97261
Cardiomyopathy, Familial Hypertrophic, 16	Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Palpitations, Left ventr...	OMIM:613838
Babesiosis	Hepatic failure, Congestive heart failure, Leukopenia, Renal insufficiency, Splenomegaly, Thrombo...	ORPHA:108
Gonadoblastoma	Ovarian gonadoblastoma, Abnormality of the ovary, Gonadal calcification, Ambiguous genitalia, Gon...	ORPHA:206484
Naxos Disease	Dilated cardiomyopathy, Congestive heart failure, Abnormal heart morphology, Right ventricular ca...	OMIM:601214
Legionnaires Disease	Bone marrow hypocellularity, Hypotension, Hepatitis, Lymphopenia, Renal insufficiency, Splenomega...	ORPHA:549
Glycogen Storage Disease Ixc	Elevated circulating hepatic transaminase concentration, Splenomegaly, Increased hepatic glycogen...	OMIM:613027
Facial Clefting, Oblique, 1	Microphthalmia	OMIM:600251
Leydig Cell Hypoplasia	Male hypogonadism, Hypoplasia of the Leydig cells, Abnormal external genitalia, Cryptorchidism, T...	ORPHA:755
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Portal hypertension, Splen...	OMIM:617068
Cholestasis-Lymphedema Syndrome	Elevated circulating hepatic transaminase concentration, Neonatal cholestatic liver disease, Sple...	OMIM:214900
Red Cell Phospholipid Defect With Hemolysis	Reticulocytosis, Splenomegaly, Intermittent jaundice	OMIM:179700
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Micropenis, Decreased testicular size, Cholelithiasis, Cryptorchidism	OMIM:300534
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Aortic valve stenosis, Atrial flutter, Congestive heart failure, Tricuspid regurgitation, Mitral ...	ORPHA:324410
Indolent Systemic Mastocytosis	Mastocytosis, Increased proportion of CD25+ mast cells, Splenomegaly, Lymphadenopathy, Hepatomega...	ORPHA:98848
Congenital Varicella Syndrome	Microphthalmia	ORPHA:291
Congenital Myopathy 8	Cardiomegaly, Congestive heart failure	OMIM:618654
Diabetes Mellitus, Permanent Neonatal, 4	Hyperglycemia, Type I diabetes mellitus, Diabetic ketoacidosis	OMIM:618858
Craniotelencephalic Dysplasia	Optic nerve hypoplasia, Frontal encephalocele, Microphthalmia	OMIM:218670
Classic Mycosis Fungoides	Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy	ORPHA:2584
Partial Androgen Insensitivity Syndrome	Clitoral hypertrophy, Insulin insensitivity, Bifid scrotum, Bilateral cryptorchidism, Azoospermia...	ORPHA:90797
Incessant Infant Ventricular Tachycardia	Congestive heart failure, Bundle branch block, Cardiac rhabdomyoma, Prolonged QRS complex, Suprav...	ORPHA:45453
Mayer-Rokitansky-Kuster-Hauser Syndrome	Hematocolpos, Abnormal female external genitalia morphology, Aplasia of the vagina, Polycystic ov...	OMIM:277000
Lymphatic Malformation 14	Lymphedema	OMIM:620602
Lymphatic Malformation 2	Lymphedema	OMIM:611944
Progressive Familial Heart Block, Type Ib	Left anterior fascicular block, Atrioventricular block, Shortened PR interval, Arrhythmia, Syncop...	OMIM:604559
Idiopathic Pulmonary Hemosiderosis	Diffuse alveolar hemorrhage, Hepatosplenomegaly, Cardiomegaly, Iron deficiency anemia, Glomerulon...	ORPHA:99931
Laryngeal Neuroendocrine Tumor	Adrenocorticotropic hormone excess, Chronic noninfectious lymphadenopathy	ORPHA:100083
Mmep Syndrome	Microphthalmia	ORPHA:3434
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Decreased CD4:CD8 ratio, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly	OMIM:618495
Cimdag Syndrome	Hypogonadism, Hepatomegaly, Cholelithiasis, Microvesicular hepatic steatosis	OMIM:619273
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia, Hepatomegaly	OMIM:610539
Lymphoproliferative Syndrome, X-Linked, 1	Vasculitis, Hepatic failure, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopen...	OMIM:308240
Gray Platelet Syndrome	Epistaxis, Splenomegaly, Thrombocytopenia	ORPHA:721
Necrotizing Enterocolitis	Hypotension, Abnormal heart morphology, Shock, Ascites, Leukocytosis, Peritonitis, Neutropenia, B...	ORPHA:391673
Nphp3-Related Meckel-Like Syndrome	Multicystic kidney dysplasia, Abnormal liver parenchyma morphology, Abnormality of the pancreas, ...	ORPHA:3032
Cardiomyopathy, Familial Hypertrophic, 11	Left anterior fascicular block, Atrial flutter, Subaortic ventricular septal bulge, Hypertrophic ...	OMIM:612098
Splenoportal Vascular Anomalies	Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis, Anomalous splenoportal venous system	OMIM:271500
Porphyria, Congenital Erythropoietic	Cholelithiasis, Reduced erythrocyte uroporphyrinogen III cosynthase activity, Splenomegaly, Red u...	OMIM:263700
Maturity-Onset Diabetes Of The Young, Type 13	Hyperglycemia, Maternal diabetes, Diabetes mellitus, Maturity-onset diabetes of the young	OMIM:616329
Autoimmune Lymphoproliferative Syndrome	Vasculitis, Chronic noninfectious lymphadenopathy, Splenomegaly, Follicular hyperplasia, Autoimmu...	OMIM:601859
Isolated Right Ventricular Hypoplasia	Bidirectional shunt, Abnormal atrioventricular conduction, Right ventricular failure, Right-to-le...	ORPHA:439
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Hepatomegaly, Pulmonary arterial hypertension, Cardiomegaly, Elevated circulating hepatic transam...	OMIM:619064
Immunodeficiency 91 And Hyperinflammation	Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Acute hepatic failure,...	OMIM:619644
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Periportal fibrosis, Dicarboxylic aciduria, Hypertrophic cardiomyopathy, Reduced left ventricular...	OMIM:201475
Microcephaly-Microcornea Syndrome, Seemanova Type	Microphthalmia	ORPHA:2528
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Anterior pituitary agenesis, Hypoplastic tricuspid valve, Pancreatic hypoplasia, Congenital defec...	ORPHA:2255
Transaldolase Deficiency	Hepatic fibrosis, Clitoral hypertrophy, Micronodular cirrhosis, Decreased liver function, Hepatos...	OMIM:606003
Lymphoproliferative Syndrome 2	Aplastic anemia, Hemophagocytosis, Ascites, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Lymph...	OMIM:615122
Histiocytosis-Lymphadenopathy Plus Syndrome	Pancreatic hypoplasia, Cervical lymphadenopathy, Decreased response to growth hormone stimulation...	OMIM:602782
Familial Idiopathic Dilatation Of The Right Atrium	Atrioventricular block, Abnormality of the hepatic vasculature, Complete heart block with narrow ...	ORPHA:1677
Lymphoproliferative Syndrome 1	Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, ...	OMIM:613011
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Prolonged neonatal jaundice, Bradycardia, Goiter	ORPHA:226313
Niemann-Pick Disease, Type B	Sea-blue histiocytosis, Splenomegaly, Anemia, Thrombocytopenia, Hepatomegaly, Bone-marrow foam cells	OMIM:607616
Ciliary Dyskinesia, Primary, 53	Polysplenia, Abdominal situs inversus, Situs inversus totalis, Patent foramen ovale, Cardiomegaly...	OMIM:620642
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant	Atrial fibrillation, Bradycardia	OMIM:614302
Roifman Syndrome	Hepatosplenomegaly, Noncompaction cardiomyopathy, Hypogonadotropic hypogonadism, Eosinophilia, Ly...	ORPHA:353298
Neuroendocrine Tumor Of The Colon	Abnormal pulmonary valve cusp morphology, Hypotension, Elevated circulating hepatic transaminase ...	ORPHA:100080
Roifman Syndrome	Splenomegaly, Ventricular septal defect, Noncompaction cardiomyopathy, Eosinophilia, Lymphadenopa...	OMIM:616651
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Splenomegaly, Pericarditis, Lymphadenopathy	ORPHA:85414
Gaucher Disease	Splenic infarction, Aortic valve calcification, Cholelithiasis, Hepatic failure, Hepatitis, Abnor...	ORPHA:355
Histiocytoid Cardiomyopathy	Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Congestive heart failure,...	ORPHA:137675
Ovarian Fibroma	Abnormality of the ovary, Ascites, Gonadal calcification, Ovarian fibroma, Peritonitis, Mesenteri...	ORPHA:314473
Griscelli Syndrome Type 2	Hemophagocytosis, Pancytopenia, Splenomegaly, Lymphadenopathy, Neutropenia, Hepatomegaly, Jaundice	ORPHA:79477
Ppoma	Intrahepatic cholestasis, Cholelithiasis, Gastrointestinal hemorrhage, Pituitary adenoma, Abnorma...	ORPHA:97278
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatic bridging fibrosis, Hepatic fibrosis, Hepatic failure, Splenomegaly, Hepatomegaly	OMIM:616719
Testicular Agenesis	Absent external genitalia, Hypoplasia of the uterus, Vanishing testis, Ambiguous genitalia, Uroge...	ORPHA:325124
Meacham Syndrome	Aortic valve stenosis, Hypoplastic left heart, Abnormal vagina morphology, Hydrometrocolpos, Hors...	ORPHA:3097
Diabetes Mellitus, Transient Neonatal, 3	Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes	OMIM:610582
Immunodeficiency, Common Variable, 1	Abnormal T cell count, Splenomegaly, Decreased proportion of class-switched memory B cells, Lymph...	OMIM:607594
Familial Thyroid Dyshormonogenesis	Prolonged neonatal jaundice, Bradycardia, Goiter	ORPHA:95716
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Cardiomyopathy, Renal insufficiency, Splenomegaly, Anemia, Pancreatitis, Neutropenia, Thrombocyto...	ORPHA:79312
Activated Pi3K-Delta Syndrome	Recurrent tonsillitis, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Hepatomegaly	ORPHA:397596
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Microphthalmia	OMIM:120433
Immunodeficiency 7	Hypereosinophilia, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Neutropenia, Hepat...	OMIM:615387
Trisomy 8P	Nephrocalcinosis, Annular pancreas, Tetralogy of Fallot, Abnormal left ventricle morphology, Hear...	ORPHA:264450
Basel-Vanagaite-Smirin-Yosef Syndrome	Cholelithiasis, Male urethral meatus stenosis, Ventricular septal defect, Hydronephrosis, Pulmona...	ORPHA:464738
Mitchell-Riley Syndrome	Annular pancreas, Pancreatic hypoplasia, Cholestasis, Ascites, Absent gallbladder, Biliary atresi...	OMIM:615710
Danon Disease	Myocardial necrosis, Atrioventricular block, Dilated cardiomyopathy, Second degree atrioventricul...	OMIM:300257
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Microcytic anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:231242
Leishmaniasis	Elevated circulating hepatic transaminase concentration, Pancytopenia, Leukopenia, Splenomegaly, ...	ORPHA:507
Diethylstilbestrol Syndrome	Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular...	ORPHA:1916
Anemia, Congenital Dyserythropoietic, Type Ib	Erythroid hyperplasia, Splenomegaly, Reticulocytosis, Anemia of inadequate production, Anisocytos...	OMIM:615631
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated urinary 3-hydroxybutyric acid, Elevated circulating hepatic transaminase concentration, ...	ORPHA:42
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatic fibrosis, Hepatic failure, Cholestasis, Portal hypertension, Splenomegaly, Sclerosing cho...	OMIM:607626
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Absent circulating B cells	OMIM:620282
Immunodeficiency 84	Splenomegaly, B lymphocytopenia	OMIM:619437
Xeroderma Pigmentosum, Complementation Group G	Microphthalmia	OMIM:278780
Caspase 8 Deficiency	Decreased CD4:CD8 ratio, Splenomegaly, Lymphadenopathy	OMIM:607271
Congenital Disorder Of Glycosylation, Type It	Aborted sudden cardiac death, Intrahepatic cholestasis, Dilated cardiomyopathy, Elevated circulat...	OMIM:614921
Classic Hodgkin Lymphoma	Hepatomegaly, Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly	ORPHA:391
Deafness-Lymphedema-Leukemia Syndrome	Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombo...	ORPHA:3226
Trichohepatoneurodevelopmental Syndrome	Cholelithiasis, Decreased liver function, Exocrine pancreatic insufficiency, Splenomegaly, Ventri...	OMIM:618268
Craniotelencephalic Dysplasia	Septo-optic dysplasia, Frontal encephalocele, Microphthalmia	ORPHA:1528
Immunodeficiency 69	Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Thrombocytosis, A...	OMIM:618963
Cardiac-Urogenital Syndrome	Biventricular hypertrophy, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Dextr...	OMIM:618280
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Erythroid hyperplasi...	OMIM:616860
Hb Bart'S Hydrops Fetalis	Congestive heart failure, Abnormal hemoglobin, Splenomegaly, Anemia, Hepatomegaly, Pericarditis	ORPHA:163596
Carnitine Palmitoyltransferase I Deficiency	Elevated circulating hepatic transaminase concentration, Ketonuria, Dicarboxylic aciduria, Elevat...	OMIM:255120
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Acute hepatic steatosis, Hepatitis, Cholestasis, Hepatic steatosis, Cholesterol gallstones, Macro...	ORPHA:209902
Rhabdoid Tumor	Hematuria, Neoplasm of the liver, Internal hemorrhage, Lymphadenopathy, Thrombocytopenia, Anemia,...	ORPHA:69077
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ...	ORPHA:75564
22Q11.2 Deletion Syndrome	Cryptorchidism, Ventricular septal defect, Atrial septal defect, Hypoparathyroidism, Polycystic k...	ORPHA:567
Bohring-Opitz Syndrome	Cholelithiasis, Annular pancreas, Urinary retention, Cardiomegaly, Abnormal cardiac septum morpho...	ORPHA:97297
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia	OMIM:614830
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Male hypogonadism, Abnormal vagina morphology, Gonadal dysgenesis, Abnormal female external genit...	ORPHA:168563
Microphthalmia, Isolated 8	True anophthalmia, Optic nerve hypoplasia, Anophthalmia, Microphthalmia	OMIM:615113
Lig4 Syndrome	Acute leukemia, Pancytopenia, Leukocytosis, Cryptorchidism, Telangiectasia of the skin, Lymphaden...	ORPHA:99812
Primary Myelofibrosis	Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Portal hypertension, Splenomegaly...	ORPHA:824
Long Qt Syndrome 9	Abnormal U wave, Sinus bradycardia, Prolonged QT interval, Syncope, Ventricular arrhythmia, Cardi...	OMIM:611818
Genitopalatocardiac Syndrome	Multicystic kidney dysplasia, Abnormal mesentery morphology, Abnormality of the gallbladder, Cryp...	ORPHA:2075
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Absent gallbladder, Cryptorchidism, Ventricular septal defect, Hydronephrosis, Anemia, Atrial sep...	ORPHA:163979
Familial Cold Autoinflammatory Syndrome 2	Splenomegaly, Leukocytosis, Lymphadenopathy	OMIM:611762
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hypogonadism, Sideroblastic anemia, Azoospermia, Splenomegaly, Anemia, Elevated hepatic iron conc...	OMIM:615234
Sick Sinus Syndrome 4	Atrioventricular block, Sinoatrial block, Paroxysmal atrial fibrillation, Abnormal QRS complex, A...	OMIM:619464
Immunodeficiency 48	Abnormal B cell count, Splenomegaly, Impaired lymphocyte transformation with phytohemagglutinin, ...	OMIM:269840
Scrub Typhus	Hypotension, Renal insufficiency, Splenomegaly, Lymphadenopathy, Myocarditis	ORPHA:83317
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hematochezia, Hepatic fibrosis, Dilated cardiomyopathy, Lymphadenitis, Elevated circulating hepat...	OMIM:615895
Ovarian Dysgenesis 2	Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism	OMIM:300510
Bronchial Neuroendocrine Tumor	Abnormal pulmonary valve cusp morphology, Hypotension, Cardiogenic shock, Right ventricular failu...	ORPHA:97287
Portal Hypertension, Noncirrhotic, 2	Epistaxis, Nodular regenerative hyperplasia of liver, Elevated circulating hepatic transaminase c...	OMIM:619463
Lymphatic Malformation 7	Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ...	OMIM:617300
Hypocomplementemic Urticarial Vasculitis	Abnormal heart valve morphology, Ascites, Renal insufficiency, Splenomegaly, Hematuria, Proteinur...	ORPHA:36412
Lathosterolosis	Intrahepatic cholestasis, Hepatic fibrosis, Horseshoe kidney, Elevated circulating aspartate amin...	OMIM:607330
Mulibrey Nanism	Congestive heart failure, Ascites, Cardiomegaly, Pericardial constriction, Hepatomegaly, Myocardi...	OMIM:253250
Microphthalmia, Isolated, With Corectopia	Microphthalmia	OMIM:156900
Peripartum Cardiomyopathy	Abnormal cardiac atrium morphology, Mitral regurgitation, Elevated jugular venous pressure, Left ...	ORPHA:563
Chronic Visceral Acid Sphingomyelinase Deficiency	Cholelithiasis, Hepatic failure, Decreased liver function, Abnormal heart valve morphology, Hyper...	ORPHA:77293
Harderoporphyria	Increased urinary porphobilinogen, Splenomegaly, Red urine, Reticulocytosis, Prolonged neonatal j...	OMIM:618892
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Lymphadenopathy	OMIM:617772
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abnormal CD4:CD8 ratio, Splenomegaly, Lymphadenopathy, Neutropenia, B lymphocytopenia, Intermitte...	OMIM:150550
Heart Defects, Congenital, And Other Congenital Anomalies	Total absence of the pericardium, Hypoplastic tricuspid valve, Glycosuria, Pancreatic hypoplasia,...	OMIM:600001
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Aortic valve calcification, Bacterial endocarditis, Cholelithiasis, Hepatic fibrosis, Abnormality...	ORPHA:2072
Castleman Disease	Restrictive cardiomyopathy, Ureteral obstruction, Renal insufficiency, Follicular hyperplasia, He...	ORPHA:160
Alpha-1-Antitrypsin Deficiency	Cirrhosis, Elevated circulating hepatic transaminase concentration, Splenomegaly, Hepatocellular ...	OMIM:613490
Niemann-Pick Disease, Type A	Sea-blue histiocytosis, Microcytic anemia, Elevated circulating aspartate aminotransferase concen...	OMIM:257200
Meckel Syndrome, Type 8	Occipital encephalocele, Encephalocele, Anophthalmia, Microphthalmia, Pericardial effusion	OMIM:613885
Klatskin Tumor	Cholangiocarcinoma, Lymphadenopathy, Hepatomegaly, Jaundice, Extrahepatic cholestasis	ORPHA:99978
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly	ORPHA:88643
Aggressive Systemic Mastocytosis	Gastrointestinal hemorrhage, Hypotension, Decreased liver function, Ascites, Hepatosplenomegaly, ...	ORPHA:98850
Cholesteryl Ester Storage Disease	Hepatic failure, Splenomegaly, Cirrhosis, Hepatomegaly, Jaundice	ORPHA:75234
Meckel Syndrome, Type 3	Malformation of the hepatic ductal plate, Hepatic fibrosis, Multicystic kidney dysplasia, Hepatom...	OMIM:607361
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Hepatomegaly, Splenomegaly	ORPHA:2204
Diabetes Mellitus, Permanent Neonatal, 1	Hyperglycemia, Type I diabetes mellitus, Diabetes mellitus	OMIM:606176
Neuroendocrine Tumor Of The Rectum	Abnormal pulmonary valve cusp morphology, Hematochezia, Hypotension, Right ventricular failure, E...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Abnormal pulmonary valve cusp morphology, Hematochezia, Hypotension, Right ventricular failure, E...	ORPHA:100082
Marburg Hemorrhagic Fever	Neutrophilia in presence of infection, Lymphopenia, Jaundice, Tachycardia, Shock, Abnormal lympho...	ORPHA:99826
Glycogen Storage Disease Ii	Sinus tachycardia, Splenomegaly, Shortened PR interval, Cardiomegaly, Hepatomegaly, Subarachnoid ...	OMIM:232300
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Hepatic failure, Elevated circulating hepatic transaminase concentration, Reduced natural killer ...	ORPHA:158057
Brugada Syndrome	Trifascicular block, Supraventricular tachycardia, Syncope, Paroxysmal ventricular tachycardia, F...	ORPHA:130
Drug-Induced Autoimmune Hemolytic Anemia	Congestive heart failure, Abnormal urinary color, Splenomegaly, Autoimmune hemolytic anemia, Tach...	ORPHA:90037
Craniofacioskeletal Syndrome	Absent gallbladder, Cryptorchidism, Ventricular septal defect, Hydronephrosis, Atrial septal defe...	OMIM:300712
Long Qt Syndrome 5	Torsade de pointes, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardiac death, P...	OMIM:613695
Premature Ovarian Failure 7	Clitoral hypertrophy, Hypoplasia of the uterus, Gonadal dysgenesis	OMIM:612964
Anemia, Congenital Dyserythropoietic, Type Iv	Increased RBC distribution width, Persistence of hemoglobin F, Hypertrophic cardiomyopathy, Hepat...	OMIM:613673
White Sponge Nevus 2	Edema	OMIM:615785
Short Qt Syndrome 2	Shortened QT interval, Syncope, Bradycardia, Atrial fibrillation, Ventricular fibrillation, Sudde...	OMIM:609621
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Elevated circulating hepatic transaminase concentration, Cardiomyopathy,...	OMIM:300280
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Lymphopenia, Leukopenia, Splenomegaly, Ventricular septal defect, Hepatomegaly	OMIM:620210
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Nephropathy, Homocystinuria, Acute kidney injury, Hypotension, Methylmalonic aciduria, Cystathion...	OMIM:277400
B-Cell Expansion With Nfkb And T-Cell Anergy	Increased B cell count, Splenomegaly	OMIM:616452
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatic fibrosis, Periportal fibrosis, Multiple small medullary renal cysts, Renal insufficiency,...	OMIM:263200
Osteopetrosis, Autosomal Dominant 3	Hepatomegaly, Hyperparathyroidism, Anemia, Splenomegaly	OMIM:618107
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Splenomega...	ORPHA:251380
Cataract 9, Multiple Types	Microphthalmia	OMIM:604219
Romano-Ward Syndrome	Abnormal T-wave, Torsade de pointes, Sinus bradycardia, Syncope, Ventricular arrhythmia, Sudden c...	ORPHA:101016
Idiopathic Uveal Effusion Syndrome	Microphthalmia	ORPHA:209956
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Chronic kidney disease, Hepatic fibrosis, Hepatic failure, Nephronophthisis, Cholestasis, Splenom...	OMIM:615630
Complete Androgen Insensitivity Syndrome	Abnormal morphology of female internal genitalia, Bilateral cryptorchidism, Aplasia of the uterus...	ORPHA:99429
Immunodeficiency 103, Susceptibility To Fungal Infections	Hypereosinophilia, Abnormal B cell count, Abnormal proportion of CD8-positive T cells, Abnormal p...	OMIM:212050
Gaucher Disease, Type Iiic	Aortic valve calcification, Pancytopenia, Splenomegaly, Mitral stenosis, Cardiomegaly, Mitral val...	OMIM:231005
Dihydropyrimidine Dehydrogenase Deficiency	Microphthalmia	OMIM:274270
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Atrioventricular block, Bradycardia	OMIM:614407
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia	OMIM:267760
Caroli Syndrome	Hypersplenism, Congenital hepatic fibrosis, Cirrhosis, Abnormal ductus choledochus morphology, He...	ORPHA:480520
Microphthalmia, Syndromic 12	Anophthalmia, Microphthalmia	OMIM:615524
Tularemia	Cervical lymphadenopathy, Abnormal nasopharyngeal adenoid morphology, Leukocytosis, Lymphadenopat...	ORPHA:3392
Mitochondrial Complex I Deficiency, Nuclear Type 37	Pulmonary arterial hypertension, Hypospadias, Bradycardia	OMIM:619272
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Cholestasis, Portal hypertension, Splenomegaly, Hepatomegaly, Jaundice	ORPHA:59303
Q Fever	Vasculitis, Elevated circulating hepatic transaminase concentration, Hepatitis, Abnormal heart va...	ORPHA:781
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatic failure, Abnormality of the uterus, Pancreatic lymphangiectasis, Vaginal atresia, Hepatos...	ORPHA:1655
Griscelli Syndrome	Bone marrow hypocellularity, Hepatitis, Ascites, Leukopenia, Splenomegaly, Lymphadenopathy, Throm...	ORPHA:381
Digeorge Syndrome	Unilateral renal agenesis, Cholelithiasis, Parathyroid hypoplasia, Tetralogy of Fallot, Renal ins...	OMIM:188400
Polycythemia Vera	Gastrointestinal hemorrhage, Budd-Chiari syndrome, Increased hematocrit, Cerebral ischemia, Throm...	OMIM:263300
Long Qt Syndrome 8	Aborted sudden cardiac death, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardia...	OMIM:618447
Mullerian Aplasia And Hyperandrogenism	Aplasia of the uterus, Abnormal external genitalia, Aplasia of the fallopian tube, Aplasia of the...	OMIM:158330
Metachromatic Leukodystrophy	Urinary incontinence, Hemobilia, Neoplasm of the gallbladder, Abnormal gallbladder morphology	ORPHA:512
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Abnormally low T cell receptor excision circle level, Reduced natural killer cell count, Lymphope...	ORPHA:276
Atrial Fibrillation, Familial, 7	Prolonged QTc interval, Paroxysmal atrial fibrillation, Premature atrial contractions, Palpitatio...	OMIM:612240
Heterotaxy, Visceral, 1, X-Linked	Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Hepatomegaly, Hy...	OMIM:306955
Hepatoportal Sclerosis	Nodular regenerative hyperplasia of liver, Gastrointestinal hemorrhage, Periportal fibrosis, Elev...	ORPHA:64743
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Elevated circulating aspartate aminotra...	OMIM:619662
Adult-Onset Still Disease	Neutrophilia, Bone marrow hypocellularity, Elevated circulating hepatic transaminase concentratio...	ORPHA:829
Lujo Hemorrhagic Fever	Hypotension, Oliguria, Elevated circulating hepatic transaminase concentration, Shock, Lymphopeni...	ORPHA:319213
Combined Immunodeficiency Due To Zap70 Deficiency	Lymphadenitis, Abnormal lymph node morphology, Decreased proportion of CD8-positive T cells, Hepa...	ORPHA:911
Familial Pancreatic Carcinoma	Peritoneal abscess, Elevated circulating hepatic transaminase concentration, Pancreatic adenocarc...	ORPHA:1333
Infant Acute Respiratory Distress Syndrome	Tachycardia, Hypotension, Cardiac arrest, Bradycardia	ORPHA:70587
Ileal Neuroendocrine Tumor	Hypotension, Cardiogenic shock, Right ventricular failure, Arterial occlusion, Hepatic failure, E...	ORPHA:100078
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Absence of lymph node germinal center, Lymphopenia, B lymphocytopenia, Absent tonsils, Pulmonary ...	ORPHA:277
Refsum Disease, Classic	Cardiomyopathy, Congestive heart failure, Cardiomegaly, Arrhythmia, Abnormal renal physiology	OMIM:266500
Triploidy	Abnormality of the gallbladder, Cryptorchidism, Ambiguous genitalia, Abnormal cardiac septum morp...	ORPHA:3376
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Occipital encephalocele, Microphthalmia	ORPHA:324416
Ovarian Fibrothecoma	Abnormality of the ovary, Ascites, Gonadal calcification, Abnormal endometrium morphology, Ovaria...	ORPHA:314478
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Precocious puberty, Cholelithiasis, Hepatosplenomegaly, Cholecystitis, Hepatomegaly	OMIM:301066
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Follicular hyperplasia, Decrea...	OMIM:619846
Combined Oxidative Phosphorylation Deficiency 33	Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Cardiomegaly, Left ventr...	OMIM:617713
Vaginal Atresia	Imperforate hymen, Uterus didelphys, Abnormality of the uterus, Vaginal hematocele, Transverse va...	ORPHA:65681
Kaposiform Lymphangiomatosis	Epidural hemorrhage, Epistaxis, Pancreatic cysts, Hepatosplenomegaly, Splenomegaly, Abnormal lymp...	ORPHA:464329
Purine Nucleoside Phosphorylase Deficiency	Decreased urinary urate, Cerebral vasculitis, Elevated urinary inosine level, Lymphopenia, Lymph ...	OMIM:613179
Cryoglobulinemic Vasculitis	Vasculitis, Gastrointestinal hemorrhage, Abnormality of the liver, Renal insufficiency, Splenomeg...	ORPHA:91138
Diffuse Cutaneous Mastocytosis	Gastrointestinal hemorrhage, Hypotension, Abnormality of the spleen, Abnormality of the liver, Ly...	ORPHA:79456
Progressive Familial Heart Block, Type Ii	Atrioventricular block, Complete heart block with narrow QRS complexes, Sinus bradycardia, Syncop...	OMIM:140400
Typhoid	Epistaxis, Gastrointestinal hemorrhage, Splenomegaly, Arrhythmia, Hepatomegaly, Cardiac arrest	ORPHA:99745
Sea-Blue Histiocytosis	Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia, Hepatomegaly, Mediastinal lymphadenopathy	ORPHA:158029
Nephroblastoma	Hematuria, Neoplasm of the liver, Hypertension, Lymphadenopathy	ORPHA:654
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol...	ORPHA:766
Lymphoproliferative Syndrome, X-Linked, 2	Aplastic anemia, Hemophagocytosis, Hepatitis, Pancytopenia, Splenomegaly, Hepatomegaly	OMIM:300635
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Microphthalmia	OMIM:610023
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Polyhydramnios, Microphthalmia	ORPHA:2547
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Recurrent tonsillitis, Lymphadenitis, Lymphopenia, Hepatosplenomegaly, Hemolytic anemia, Impaired...	OMIM:618935
X-Linked Sideroblastic Anemia	Anemia, Elevated circulating hepatic transaminase concentration, Splenomegaly	ORPHA:75563
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia	OMIM:615771
Tafro Syndrome	Ascites, Hepatosplenomegaly, Renal insufficiency, Splenomegaly, Leukocytosis, Anemia, Lymphadenop...	ORPHA:457077
Microphthalmia, Syndromic 13	Microphthalmia	OMIM:300915
Drug Reaction With Eosinophilia And Systemic Symptoms	Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failure, Renal ...	ORPHA:139402
Tetanus	Elevated urinary norepinephrine level, Bradycardia, Tachycardia, Elevated urinary epinephrine lev...	ORPHA:3299
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly	OMIM:613576
Biemond Syndrome Type 2	Microphthalmia	ORPHA:141333
Autoimmune Hemolytic Anemia, Warm Type	Congestive heart failure, Abnormal urinary color, Splenomegaly, Autoimmune hemolytic anemia, Chro...	ORPHA:90033
Acquired Hypertrichosis Lanuginosa	Ovarian neoplasm, Lymphadenopathy	ORPHA:2221
2Q24 Microdeletion Syndrome	Microphthalmia	ORPHA:1617
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Microphthalmia	OMIM:616171
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia	ORPHA:231401
Hereditary Hemorrhagic Telangiectasia	Nasal mucosa telangiectasia, Hematuria, Telangiectasia, Cirrhosis, Retinal telangiectasia, Cholel...	ORPHA:774
Combined Oxidative Phosphorylation Defect Type 39	Cryptorchidism, Bradycardia	ORPHA:565624
Fanconi Anemia, Complementation Group J	Microphthalmia	OMIM:609054
Fanconi Anemia, Complementation Group G	Microphthalmia	OMIM:614082
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction	Hyperglycemia, Maturity-onset diabetes of the young	OMIM:609812
Cholesteryl Ester Storage Disease	Hepatic bridging fibrosis, Hepatic fibrosis, Hepatic failure, Periportal fibrosis, Increased hepa...	OMIM:278000
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Red-brown urine, Hepatic failure, Cardiomyopathy, Dicarboxylic aciduria, Renal insufficiency, Hep...	ORPHA:228308
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Hypopl...	ORPHA:2585
Congenital Tricuspid Valve Dysplasia	Tricuspid regurgitation, Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardi...	ORPHA:555874
Pseudomyxoma Peritonei	Ascites, Lymphadenopathy, Abnormal peritoneum morphology	ORPHA:26790
Rosaï-Dorfman Disease	Anemia, Lymphadenopathy	ORPHA:158014
Lymphangiectasia, Pulmonary, Congenital	Facial edema, Chylothorax, Edema, Lymphedema, Ascites, Pleural effusion, Mild postnatal growth re...	OMIM:265300
Erythrocytosis, Familial, 1	Increased hematocrit, Splenomegaly, Increased red blood cell mass, Increased circulating hemoglob...	OMIM:133100
Pparg-Related Familial Partial Lipodystrophy	Congestive heart failure, Hypertrophic cardiomyopathy, Splenomegaly, Hepatic steatosis, Polycysti...	ORPHA:79083
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3	Palpitations, Cardiac arrest, Premature ventricular contraction, Syncope, Paroxysmal ventricular ...	OMIM:614021
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Hypoplasia of the ovary...	OMIM:614841
Sick Sinus Syndrome 1	Atrioventricular block, Absent P wave, Ventricular escape rhythm, Sinus bradycardia, Prolonged QT...	OMIM:608567
Estrogen Resistance	Hyperinsulinemia, Glucose intolerance, Polycystic ovaries, Hypoplasia of the uterus, Impaired glu...	OMIM:615363
Omenn Syndrome	Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Anemia, Eosinophilia, Lymphadenopathy...	ORPHA:39041
Familial Partial Lipodystrophy, Dunnigan Type	Congestive heart failure, Hypertrophic cardiomyopathy, Splenomegaly, Hepatic steatosis, Polycysti...	ORPHA:2348
Glycogen Storage Disease Ixb	Hepatomegaly, Splenomegaly, Increased hepatic glycogen content	OMIM:261750
Boutonneuse Fever	Vasculitis, Elevated circulating hepatic transaminase concentration, Cervical lymphadenopathy, Le...	ORPHA:83313
Alkaptonuria	Aminoaciduria, Aortic valve stenosis, Aortic valve calcification, Elevated urinary homogentisic a...	ORPHA:56
Coach Syndrome 1	Unilateral renal agenesis, Hepatic fibrosis, Nephronophthisis, Elevated circulating hepatic trans...	OMIM:216360
Congenital Rubella Syndrome	Splenomegaly, Ventricular septal defect, Anemia, Atrial septal defect, Thrombocytopenia, Hepatome...	ORPHA:290
Mitochondrial Complex I Deficiency, Nuclear Type 36	Cardiomegaly, Perimembranous ventricular septal defect	OMIM:619170
Long-Olsen-Distelmaier Syndrome	Dilated cardiomyopathy, Secundum atrial septal defect, Congestive heart failure, Elevated circula...	OMIM:620609
Lipodystrophy, Congenital Generalized, Type 3	Hepatomegaly, Hepatosplenomegaly, Splenomegaly, Hepatic steatosis	OMIM:612526
Gaucher Disease, Type I	Aortic valve stenosis, Epistaxis, Hypersplenism, Pancytopenia, Splenomegaly, Mitral regurgitation...	OMIM:230800
17Q12 Microduplication Syndrome	Polyhydramnios, Microphthalmia	ORPHA:261272
Hardikar Syndrome	Portal inflammation, Cholestasis, Hepatosplenomegaly, Hypersplenism, Ventricular septal defect, C...	OMIM:301068
Vacterl/Vater Association	Multicystic kidney dysplasia, Abnormality of the urethra, Bifid scrotum, Abnormal morphology of f...	ORPHA:887
Cinca Syndrome	Hepatosplenomegaly, Leukocytosis, Eosinophilia, Lymphadenopathy, Anemia	OMIM:607115
Budd-Chiari Syndrome	Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Acute hepat...	ORPHA:131
Cardiac Arrhythmia, Ankyrin-B-Related	Sinus bradycardia, Syncope, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death	OMIM:600919
Felty Syndrome	Bone marrow hypocellularity, Abnormal lymphocyte morphology, Splenomegaly, Anemia, Lymphadenopath...	ORPHA:47612
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Hemophag...	OMIM:619802
Lymphatic Filariasis	Urethral obstruction, Lymphadenitis, Hypereosinophilia, Abnormal scrotum morphology, Abnormality ...	ORPHA:2035
Familial Mediterranean Fever	Nephropathy, Vasculitis, Nephrocalcinosis, Acute hepatic failure, Ascites, Leukocytosis, Splenome...	ORPHA:342
Oculocerebrocutaneous Syndrome	Orbital encephalocele, Anophthalmia, Microphthalmia	OMIM:164180
Cerebrotendinous Xanthomatosis	Angina pectoris, Cholelithiasis, Myocardial infarction	OMIM:213700
D-Glyceric Aciduria	Aminoaciduria, Micropenis, Bradycardia	OMIM:220120
Immunodeficiency 98 With Autoinflammation, X-Linked	Bone marrow hypocellularity, Hemophagocytosis, Agranulocytosis, Splenomegaly, Autoimmune hemolyti...	OMIM:301078
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Cardiomegaly, Pulm...	OMIM:619051
Carcinoid Syndrome	Elevated circulating hepatic transaminase concentration, Right ventricular failure, Tricuspid reg...	ORPHA:100093
Ornithine Transcarbamylase Deficiency	Aminoaciduria, Hepatic failure, Splenomegaly	ORPHA:664
Omenn Syndrome	Severe B lymphocytopenia, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Lymphaden...	OMIM:603554
16P12.1P12.3 Triplication Syndrome	Bilateral cryptorchidism, Decreased response to growth hormone stimulation test, Abnormal heart m...	ORPHA:485405
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Cholelithiasis, Severe B lymphocytopenia, Pancreatic hypoplasia, Cryptorchidism, Hydronephrosis, ...	ORPHA:83617
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Cardi...	ORPHA:264580
Perrault Syndrome 6	Hypoplasia of the uterus, Streak ovary	OMIM:617565
Sandhoff Disease	Increased urinary N-acetylglucosamine-rich oligosaccharide level, Hepatosplenomegaly, Cardiomegal...	OMIM:268800
Cofs Syndrome	Microphthalmia	ORPHA:1466
Autosomal Recessive Polycystic Kidney Disease	Cholestasis, Hepatosplenomegaly, Hypersplenism, Congenital hepatic fibrosis, Hepatoblastoma, Jaun...	ORPHA:731
Immunodeficiency With Hyper-Igm, Type 3	Absence of lymph node germinal center, Neutropenia	OMIM:606843
Sheehan Syndrome	Secondary growth hormone deficiency, Breast hypoplasia, Panhypopituitarism, Palpitations, Gonadot...	ORPHA:91355
Isolated Thyroid-Stimulating Hormone Deficiency	Increased circulating prolactin concentration, Goiter, Prolonged neonatal jaundice, Bradycardia, ...	ORPHA:90674
Immunodeficiency With Hyper-Igm, Type 2	Lymphadenopathy	OMIM:605258
Type 1 Diabetes Mellitus	Hyperglycemia, Diabetes mellitus	OMIM:222100
Dominant Beta-Thalassemia	Hepatic fibrosis, Dilated cardiomyopathy, Reduced hemoglobin A, Extramedullary hematopoiesis, Per...	ORPHA:231226
Gamma-Heavy Chain Disease	Abnormal lymphocyte morphology, Autoimmune hemolytic anemia, Splenomegaly, Anemia, Lymphadenopath...	ORPHA:100026
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	Bradycardia	OMIM:614498
Adams-Oliver Syndrome 5	Hypersplenism, Splenomegaly, Patent foramen ovale, Portal vein thrombosis, Pulmonary arterial hyp...	OMIM:616028
Sézary Syndrome	Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy	ORPHA:3162
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Decreased proportion of memory B cells, Elevated circulating hepatic transaminase concentration, ...	ORPHA:79124
Thrombocytopenia With Beta-Thalassemia, X-Linked	Epistaxis, Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Sp...	OMIM:314050
Lipodystrophy, Familial Partial, Type 3	Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II...	OMIM:604367
Hemoglobin E Disease	Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega...	ORPHA:2133
Peutz-Jeghers Syndrome	Biliary tract neoplasm, Gastrointestinal hemorrhage, Pancreatic adenocarcinoma, Abnormality of th...	ORPHA:2869
Macrophage Activation Syndrome	Hepatitis, Decreased liver function, Hemophagocytosis, Elevated circulating aspartate aminotransf...	ORPHA:158061
Mogs-Cdg	External genital hypoplasia, Hepatosplenomegaly, Cardiomegaly, Left ventricular hypertrophy, Atri...	ORPHA:79330
Primary Hepatic Neuroendocrine Carcinoma	Elevated circulating hepatic transaminase concentration, Right ventricular failure, Ascites, Palp...	ORPHA:100085
Glutamine Deficiency, Congenital	Bradycardia	OMIM:610015
Developmental And Epileptic Encephalopathy 101	Third degree atrioventricular block, Bradycardia	OMIM:619814
Mixed Connective Tissue Disease	Nephropathy, Gastrointestinal hemorrhage, Hemolytic anemia, Leukopenia, Splenomegaly, Pulmonary a...	ORPHA:809
Cholestasis, Progressive Familial Intrahepatic, 2	Intrahepatic cholestasis, Splenomegaly, Intermittent jaundice, Cirrhosis, Hepatomegaly, Hepatocel...	OMIM:601847
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Uterus didelphys, Tetralogy of Fallot, Septate vagina, Absent gallbladder, Complete atrioventricu...	OMIM:617925
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Mitral regurgitation, Hepatosplenomegaly, Microcytic anemia, Lymphadenopathy	OMIM:619750
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Hypertrophic cardiomyopathy, Ascites, Ventricular septal defect, Hydronephrosis, Cardiomegaly, Mi...	OMIM:616897
Mcleod Syndrome	Dilated cardiomyopathy, Cardiomyopathy, Elevated circulating aspartate aminotransferase concentra...	OMIM:300842
Neuroendocrine Tumor Of Stomach	Abnormal pulmonary valve cusp morphology, Hypotension, Cardiogenic shock, Right ventricular failu...	ORPHA:100075
Immunodeficiency 10	Splenomegaly, Autoimmune hemolytic anemia, Abnormal lymphocyte count, Lymphadenopathy, Hepatomega...	OMIM:612783
Thymic Neuroendocrine Tumor	Calcium nephrolithiasis, Pituitary adenoma, Increased circulating prolactin concentration, Pituit...	ORPHA:97289
Fowler Urethral Sphincter Dysfunction Syndrome	Abnormality of the urethra, Urinary retention, Abnormality of the ovary, Polycystic ovaries, Urin...	ORPHA:2795
Cardiomyopathy, Familial Hypertrophic, 17	Hypertrophic cardiomyopathy, Palpitations, Angina pectoris, Left ventricular hypertrophy, Ventric...	OMIM:613873
Familial Hemophagocytic Lymphohistiocytosis	Cholestatic liver disease, Elevated circulating hepatic transaminase concentration, Hemophagocyto...	ORPHA:540
Thrombocythemia 1	Splenomegaly, Thrombocytosis	OMIM:187950
Steinert Myotonic Dystrophy	Male hypogonadism, Cholelithiasis, Dilated cardiomyopathy, Elevated circulating hepatic transamin...	ORPHA:273
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration, Elevated circula...	OMIM:608836
Bile Acid Synthesis Defect, Congenital, 1	Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio...	OMIM:607765
Beta-Thalassemia Major	Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopituitarism,...	ORPHA:231214
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatic failure, Pancreatic lymphangiectasis, Ascites, Splenomegaly, Cryptorchidism, Ventricular ...	OMIM:235255
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Hypotension, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chro...	ORPHA:98849
Agammaglobulinemia, X-Linked	Cor pulmonale, Lymph node hypoplasia, Prostatitis, B lymphocytopenia, Enteroviral hepatitis, Neut...	OMIM:300755
Microphthalmia, Syndromic 11	Microphthalmia	OMIM:614402
Proteasome-Associated Autoinflammatory Syndrome 4	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy	OMIM:619183
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune thrombocytopenia, Absence of lymph node germinal center, Autoimmune hemolytic anemia	OMIM:608184
Medullary Thyroid Carcinoma	Pheochromocytoma, Abnormal liver parenchyma morphology, Lymphadenopathy, Nodular goiter, Primary ...	ORPHA:1332
Bile Acid Synthesis Defect, Congenital, 2	Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio...	OMIM:235555
Premature Ovarian Failure 13	Hypoplasia of the uterus	OMIM:617442
Williams Syndrome	Cryptorchidism, Mitral valve prolapse, Polycystic ovaries, Ventricular septal defect, Bicuspid ao...	ORPHA:904
Beckwith-Wiedemann Syndrome	Nephrocalcinosis, Pancreatic hyperplasia, Cardiomyopathy, Overgrowth of external genitalia, Renal...	OMIM:130650
Spherocytosis, Type 5	Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ...	OMIM:612690
Autoinflammatory Disease, Systemic, With Vasculitis	Hepatic fibrosis, Parotitis, Cholestasis, Elevated circulating aspartate aminotransferase concent...	OMIM:620376
Osteopetrosis, Autosomal Recessive 8	Hepatomegaly, Anemia, Splenomegaly, Thrombocytopenia	OMIM:615085
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Neuroleptic Malignant Syndrome	Hypertensive crisis, Acute kidney injury, Hypotension, Pulmonary embolism, Elevated circulating h...	ORPHA:94093
Double Outlet Left Ventricle	Cryptorchidism, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, Abnormal right...	ORPHA:3427
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Oligosacchariduria, Hypertrophic cardiomyopathy, Shortened PR interval, Cardiomegaly, Left ventri...	ORPHA:308552
Dehydrated Hereditary Stomatocytosis 2	Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy...	OMIM:616689
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Decreased testicular size, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonadism, Micropenis...	OMIM:614837
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Cervical lymphadenopathy, Abnormally low T cell receptor excision circle level, B lymphocytopenia	OMIM:618987
Nephronophthisis 13	Renal hypoplasia, Nephronophthisis, Stage 5 chronic kidney disease, Intrahepatic bile duct dilata...	OMIM:614377
Meckel Syndrome, Type 4	Renal cyst, Atrial septal defect, Bile duct proliferation, Ventricular septal defect	OMIM:611134
Tetrasomy 9P	Horseshoe kidney, Absent gallbladder, Cryptorchidism, Abnormal mitral valve morphology, Patent fo...	ORPHA:3310
Fucosidosis	Hepatomegaly, Abnormality of the gallbladder, Mucopolysacchariduria, Cardiomegaly	ORPHA:349
Yellow Fever	Neutrophilia, Acute kidney injury, Pancreatic hyperplasia, Anuria, Shock, Reduced left ventricula...	ORPHA:99829
Mucopolysaccharidosis, Type Iiia	Hepatomegaly, Heparan sulfate excretion in urine, Splenomegaly, Asymmetric septal hypertrophy	OMIM:252900
Macrocephaly/Autism Syndrome	Lymphopenia, Penile freckling, Splenomegaly, Hepatomegaly, Hydrocele testis	OMIM:605309
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, Autoimmune...	OMIM:616100
Fetal Gaucher Disease	Abnormality of the spleen, Pancytopenia, Splenomegaly, Thrombocytopenia, Hepatomegaly, Intracrani...	ORPHA:85212
Autoimmune Hepatitis	Gastrointestinal hemorrhage, Spider hemangioma, Elevated circulating hepatic transaminase concent...	ORPHA:2137
Alpha-N-Acetylgalactosaminidase Deficiency	Cardiomegaly, Oligosacchariduria	ORPHA:3137
Glycogen Storage Disease Ixa1	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly	OMIM:306000
Immunodeficiency With Hyper-Igm, Type 1	Absence of lymph node germinal center, Hepatitis, Splenomegaly, Sclerosing cholangitis, Hepatomeg...	OMIM:308230
Mayer-Rokitansky-Küster-Hauser Syndrome	Ectopic ovary, Unilateral renal agenesis, Horseshoe kidney, Aplasia of the ovary, Endometriosis, ...	ORPHA:3109
Tangier Disease	Hepatomegaly, Myocardial infarction, Left ventricular hypertrophy, Splenomegaly	OMIM:205400
Perrault Syndrome 3	Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism	OMIM:614129
Double Outlet Right Ventricle	Hypoplastic left heart, Aplasia/Hypoplasia of the thymus, Tetralogy of Fallot, Heart murmur, Vent...	ORPHA:3426
Hypothyroidism Due To Tsh Receptor Mutations	Prolonged neonatal jaundice, Thyroid hypoplasia, Bradycardia	ORPHA:90673
Cat-Eye Syndrome	Microphthalmia	ORPHA:195
Poems Syndrome	Visceromegaly, Polycythemia, Increased circulating prolactin concentration, Hypogonadism, Ascites...	ORPHA:2905
Carney Triad	Gastrointestinal hemorrhage, Ascites, Pheochromocytoma, Hypertension, Arrhythmia, Lymphadenopathy...	ORPHA:139411
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Hepatomegaly, Anemia, Splenomegaly, Vasculitis in the skin	OMIM:620296
Erythrocytosis, Familial, 8	Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,...	OMIM:222800
Pierpont Syndrome	Microphthalmia	ORPHA:487825
Immune Dysregulation, Autoimmunity, And Autoinflammation	Cervical lymphadenopathy, Epistaxis, Inguinal lymphadenopathy, Anemia	OMIM:620514
Interatrial Communication	Right ventricular dilatation, Secundum atrial septal defect, Atrial flutter, Congestive heart fai...	ORPHA:1478
Immunodeficiency 32A	Lymphadenitis, Lymphadenopathy	OMIM:614893
Steinfeld Syndrome	Abnormal heart morphology, Absent gallbladder	OMIM:184705
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	Fibrofatty replacement of right ventricular myocardium, Dilatation of the ventricular cavity, Rig...	OMIM:609040
Cinca Syndrome	Leukocytosis, Splenomegaly, Anemia, Lymphadenopathy, Hepatomegaly, Abnormality of neutrophils, Ab...	ORPHA:1451
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, Decreased proporti...	ORPHA:169154
Trisomy 10P	Abnormal heart morphology, Rectovaginal fistula, Multiple renal cysts, Absent gallbladder	ORPHA:171929
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Exocrine pancreatic insufficiency, Splenomegaly, Anemia of inadequate production, Hepatomegaly, J...	OMIM:612714
Kikuchi-Fujimoto Disease	Vasculitis, Elevated circulating hepatic transaminase concentration, Abnormal lymph node morpholo...	ORPHA:50918
Bardet-Biedl Syndrome 1	Hepatic fibrosis, Hypogonadism, Decreased testicular size, Abnormality of the ovary, Biliary trac...	OMIM:209900
Overhydrated Hereditary Stomatocytosis	Stomatocytosis, Pulmonary embolism, Increased mean corpuscular volume, Splenomegaly, Reticulocyto...	OMIM:185000
H Syndrome	Hypogonadism, Decreased testicular size, Hepatosplenomegaly, Azoospermia, Facial telangiectasia, ...	ORPHA:168569
Infantile Liver Failure Syndrome 3	Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Cholestasis, ...	OMIM:618641
Pediatric-Onset Graves Disease	Elevated circulating hepatic transaminase concentration, Sinus tachycardia, Goiter, Congestive he...	ORPHA:525731
Fetal Cytomegalovirus Syndrome	Elevated circulating hepatic transaminase concentration, Hepatitis, Retinal hemorrhage, Splenomeg...	ORPHA:294
Thyroid Lymphoma	Lymphadenopathy, Goiter	ORPHA:97285
Wolman Disease	Hepatic failure, Ascites, Splenomegaly, Anemia, Hepatomegaly, Bone-marrow foam cells	ORPHA:75233
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Secundum atrial septal defect, Lymphopenia, Hepatosplenomegaly, Leukopenia, Splenomegaly, Cryptor...	OMIM:612541
Renal And Mullerian Duct Hypoplasia	Aplasia of the uterus, Anteriorly displaced urethral meatus, Hydrocele testis	OMIM:266810
Congenital Myopathy 22A, Classic	Tricuspid regurgitation, Bradycardia	OMIM:620351
Pierpont Syndrome	Microphthalmia	OMIM:602342
Pediatric Systemic Lupus Erythematosus	Nephritis, Microangiopathic hemolytic anemia, Ascites, Lymphopenia, Leukopenia, Dark urine, Renal...	ORPHA:93552
Igg4-Related Kidney Disease	Chronic kidney disease, Arteritis, Lymphadenitis, Urethritis, Abnormal mesentery morphology, Hema...	ORPHA:449395
Senior-Boichis Syndrome	Chronic kidney disease, Malformation of the hepatic ductal plate, Renal hypoplasia, Hepatic fibro...	ORPHA:84081
Ovarian Dysgenesis 7	Hypoplasia of the uterus	OMIM:618117
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Oligohydramnios, Microphthalmia	OMIM:619053
Squamous Cell Carcinoma Of The Anal Canal	Intestinal bleeding, Lymphadenopathy, Neoplasm of the liver	ORPHA:424019
Lissencephaly 8	Occipital encephalocele, Microphthalmia	OMIM:617255
Hartsfield Syndrome	Encephalocele, Microphthalmia	ORPHA:2117
Diabetes Mellitus, Permanent Neonatal, 3	Hyperglycemia, Type I diabetes mellitus, Glycosuria	OMIM:618857
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia	ORPHA:1135
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Microphthalmia	ORPHA:1473
8P11.2 Deletion Syndrome	Hypogonadism, Azoospermia, Splenomegaly, Cryptorchidism, Mitral valve prolapse, Hypogonadotropic ...	ORPHA:251066
Pulmonary Non-Tuberculous Mycobacterial Infection	Pericardial effusion, Lymphadenopathy	ORPHA:411703
Waldenström Macroglobulinemia	Normocytic anemia, Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Leukemia, Congestive heart...	ORPHA:33226
46,Xx Sex Reversal 2	Small scrotum, Bifid scrotum, Non-obstructive azoospermia, Azoospermia, True hermaphroditism, Ovo...	OMIM:278850
Warburg Micro Syndrome 1	Microphthalmia	OMIM:600118
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Microphthalmia	OMIM:251270
Primary Triglyceride Deposit Cardiomyovasculopathy	Coronary artery stenosis, Cardiomyopathy, Abnormal cardiomyocyte morphology, Palpitations, Spleno...	ORPHA:565612
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia	Hypogonadotropic hypogonadism, Hypoplasia of the uterus	OMIM:614842
Aorta Coarctation	Hypoplastic left heart, Congestive heart failure, Tetralogy of Fallot, Cardiomegaly, Bicuspid aor...	ORPHA:1457
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Cholestatic liver disease, Polysplenia, Exocrine pancreatic insufficiency, Sple...	OMIM:619418
Anaplastic Thyroid Carcinoma	Nodular goiter, Lymphadenopathy, Goiter	ORPHA:142
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Rieger anomaly, Microphthalmia, Hypoplasia of the iris	OMIM:604229
Prolidase Deficiency	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Prolonged neonatal j...	OMIM:170100
Hyperimmunoglobulinemia D With Periodic Fever	Vasculitis, Gastrointestinal hemorrhage, Peritonitis, Lymphadenopathy, Hepatomegaly	ORPHA:343
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Nodular regenerative hyperplasia of liver, Hepatic failure, Increased mean corpuscular volume, Po...	OMIM:620367
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Ventricular septal defect, Bradycardia, Retinal hemorrhage, Tachycardia, Hypertension	OMIM:614653
Premature Ovarian Failure 6	Hypoplasia of the uterus, Streak ovary	OMIM:612310
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomyopathy, Congestive heart failure, 3-Methylglutaconic aciduria, Increased hepatic glycogen...	OMIM:619259
Wilson Disease	Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failure, Acute ...	ORPHA:905
Oculoskeletodental Syndrome	Splenomegaly, Cryptorchidism, Lacunar stroke, Hypercalciuria, Mucopolysacchariduria, Hepatomegaly	OMIM:618440
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Hepatitis, Decreased FOXP3-expressing T cell count, Anemia, Eosinophilia, Glomerulonephritis, Neu...	OMIM:304790
Immunodeficiency 32B	Impaired oxidative burst, Splenomegaly, Eosinophilia, Anemia, Monocytopenia, Thrombocytopenia, Ne...	OMIM:226990
Combined Immunodeficiency Due To Crac Channel Dysfunction	Splenomegaly, Lymphadenopathy, Thrombocytopenia, Hepatomegaly, Hemolytic anemia	ORPHA:169090
Syndromic Diarrhea	Aortic regurgitation, Hepatic fibrosis, Renal hypoplasia, Abnormal heart morphology, Tetralogy of...	ORPHA:84064
Microphthalmia, Syndromic 8	Microphthalmia	OMIM:601349
Congenital Disorder Of Glycosylation, Type Im	Dilated cardiomyopathy, Bradycardia	OMIM:610768
Kaposi Sarcoma	Abnormality of the spleen, Abnormality of the liver, Generalized lymphadenopathy	ORPHA:33276
Hydatidiform Mole	Enlarged uterus	ORPHA:99927
Ovarian Dysgenesis 5	Hypoplasia of the uterus	OMIM:617690
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Lymphadenitis, Lymphopenia, Hepatosplenomeg...	OMIM:618986
Premature Ovarian Failure 18	Hypoplasia of the uterus, Hypoplasia of the ovary	OMIM:619203
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Hilar lymph node enlargement, Tricuspid regurgitation, Cholestasis, Leukocytosis, Mitral valve pr...	OMIM:620233
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Aortic regurgitation, Secundum atrial septal defect, Congestive heart failure, Tricuspid regurgit...	OMIM:620066
Pancreatoblastoma	Pancreatic calcification, Jaundice, Abnormal lymph node morphology	ORPHA:677
Hemophagocytic Lymphohistiocytosis, Familial, 2	Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Hepatosplenomegaly, Pa...	OMIM:603553
Sarcoidosis, Susceptibility To, 2	Hepatomegaly, Pulmonary arterial hypertension, Mediastinal lymphadenopathy, Splenomegaly	OMIM:612387
Peroxisome Biogenesis Disorder 5A (Zellweger)	Clitoral hypertrophy, Cholestasis, Hepatosplenomegaly, Cryptorchidism, Mitral regurgitation, Vent...	OMIM:614866
Overhydrated Hereditary Stomatocytosis	Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis...	ORPHA:3203
Lymphangioleiomyomatosis	Gastrointestinal hemorrhage, Abnormal urinary color, Abnormal morphology of female internal genit...	ORPHA:538
Mevalonic Aciduria	Elevated circulating hepatic transaminase concentration, Fluctuating splenomegaly, Hepatosplenome...	OMIM:610377
Satoyoshi Syndrome	Abnormality of the ovary, Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of the u...	ORPHA:3130
Craniofaciofrontodigital Syndrome	Aortic valve stenosis, Gastrointestinal hemorrhage, Congestive heart failure, Abnormal heart valv...	ORPHA:363705
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Hepatomegaly, Reduced renal corticomedullary differentiation, Splenomegaly	OMIM:618541
Osteopetrosis, Autosomal Recessive 4	Splenomegaly, Reticulocytosis, Anemia, Thrombocytopenia, Hepatomegaly	OMIM:611490
Congenital Bile Acid Synthesis Defect Type 2	Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, E...	ORPHA:79303
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Sinus bradycardia, Ventricular septal defect	OMIM:126320
Gm1-Gangliosidosis, Type I	Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal heart val...	OMIM:230500
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Leukocytosis, Splenomegaly, Reticulocytosis, Anisocytosis, Prolonged neonatal jaundice, Fava bean...	OMIM:300908
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Optic nerve hypoplasia, Microphthalmia	OMIM:615181
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Microphthalmia	OMIM:613155
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Atrioventricular block, Dilated cardiomyopathy, Elevated circulating hepatic transaminase concent...	ORPHA:26793
Congenital Primary Aphakia	Aniridia, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Phthi...	ORPHA:83461
Gaucher Disease, Perinatal Lethal	Hepatic failure, Ascites, Hepatosplenomegaly, Splenomegaly, Cardiomegaly, Anemia, Thrombocytopeni...	OMIM:608013
Tyrosinemia, Type I	Nephrocalcinosis, Gastrointestinal hemorrhage, Elevated urinary succinylacetone level, Hepatic fa...	OMIM:276700
Hydrolethalus	Polyhydramnios, Anencephaly, Anophthalmia, Microphthalmia	ORPHA:2189
Neuroendocrine Neoplasm Of Appendix	Hypotension, Elevated circulating hepatic transaminase concentration, Palpitations, Chronic nonin...	ORPHA:100079
Spherocytosis, Type 4	Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:612653
Chediak-Higashi Syndrome	Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Spontaneous, recurrent epi...	OMIM:214500
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Microphthalmia	ORPHA:48431
Hsd10 Disease, Infantile Type	Abnormal concentration of acylcarnitine in the urine, Cardiomegaly, Hypertrophic cardiomyopathy	ORPHA:391428
Meckel Syndrome, Type 5	Occipital encephalocele, Anencephaly, Microphthalmia	OMIM:611561
Liver Disease, Severe Congenital	Portal inflammation, Dilatation of the ventricular cavity, Hepatic steatosis, Ventricular septal ...	OMIM:619991
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Pancytopenia, Splenomegaly	OMIM:614979
Temtamy Syndrome	Microphthalmia	ORPHA:1777
Gallbladder Neuroendocrine Tumor	Biliary tract neoplasm, Ascites, Chronic noninfectious lymphadenopathy, Cholecystitis, Intermitte...	ORPHA:100086
Absence Of The Pulmonary Artery	Atrial flutter, Congestive heart failure, Abnormal heart morphology, Tetralogy of Fallot, Reduced...	ORPHA:980
45,X/46,Xy Mixed Gonadal Dysgenesis	Streak ovary, Abnormal scrotum morphology, Cryptorchidism, Bicuspid aortic valve, Chordee, Abnorm...	ORPHA:1772
Cerebrotendinous Xanthomatosis	Prolonged neonatal jaundice, Cholelithiasis, Abnormal atrial septum morphology	ORPHA:909
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Vasculitis, Leukocytosis, Splenomegaly, Orchitis, Peritonitis, Abnormal myocardium morphology, Ly...	ORPHA:32960
Cantu Syndrome	Cardiomegaly, Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Pericardial effusion	OMIM:239850
Developmental Delay With Variable Neurologic And Brain Abnormalities	Microphthalmia	OMIM:619694
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia in presence of anti-neutr...	ORPHA:436159
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Generalized aminoaciduria, Depletion of mitochondrial DNA in liver, Hepatic failure, Periportal f...	OMIM:251880
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hemophagocytosis, Leukopenia, Splenomegaly, Anemia, Lymphadenopathy, Thrombocytopenia, Hepatomega...	OMIM:267700
Lethal Congenital Contracture Syndrome 10	Cardiomegaly, Hypoplasia of the thymus, Overriding aorta, Ventricular septal defect	OMIM:617022
Glycogen Storage Disease Ib	Focal segmental glomerulosclerosis, Elevated circulating hepatic transaminase concentration, Decr...	OMIM:232220
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Abnormal atrioventricular conduction, Congestive heart failure, Hypertrophic cardiomyopathy, Vent...	ORPHA:280365
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Splenomegaly, Renal tu...	ORPHA:79240
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Hepatocellular necrosis, Hepatosplenomegaly, Leukocytosis, Reticulocytos...	OMIM:618278
Combined Oxidative Phosphorylation Deficiency 41	Cardiomegaly, Anemia	OMIM:618838
Spherocytosis, Type 2	Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:616649
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome	Microphthalmia	OMIM:601794
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Microphthalmia	OMIM:602501
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Scheie Syndrome	Hepatomegaly, Aortic regurgitation, Mucopolysacchariduria, Splenomegaly	ORPHA:93474
Brucellosis	Arteritis, Liver abscess, Hypersplenism, Transient ischemic attack, Abnormality of the liver, Spl...	ORPHA:1304
Zttk Syndrome	Aortic regurgitation, Unilateral renal agenesis, Horseshoe kidney, Absent gallbladder, Ventricula...	OMIM:617140
Proximal Spinal Muscular Atrophy	Atrial septal defect, Bradycardia	ORPHA:70
Cyclic Neutropenia	Recurrent tonsillitis, Cervical lymphadenopathy, Lymphopenia, Cyclic neutropenia, Peritonitis, Ly...	ORPHA:2686
Lipodystrophy, Congenital Generalized, Type 2	Clitoral hypertrophy, Elevated circulating hepatic transaminase concentration, Hypertrophic cardi...	OMIM:269700
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Bone marrow hypocellularity, Vasculitis, Dilated cardiomyopathy, Elevated circulating hepatic tra...	OMIM:615688
Graft Versus Host Disease	Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Hepatosplenomegaly, Ja...	ORPHA:39812
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Chronic Myeloid Leukemia	Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb...	ORPHA:521
Immunodeficiency 27B	Generalized lymphadenopathy	OMIM:615978
Pulmonary Capillary Hemangiomatosis	Diffuse alveolar hemorrhage, Right ventricular failure, Hemothorax, Lymphadenopathy, Pericardial ...	ORPHA:199241
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated circulating hepatic transaminase concentration, Lymphopenia, Splenomegaly, Anemia, Lymph...	OMIM:617591
Ovarian Dysgenesis 9	Hypoplasia of the uterus, Hypoplasia of the ovary	OMIM:619665
Joubert Syndrome 22	Microphthalmia	OMIM:615665
Lipodystrophy, Congenital Generalized, Type 1	Clitoral hypertrophy, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, La...	OMIM:608594
Idiopathic Hypereosinophilic Syndrome	Hepatosplenomegaly, Thrombocytosis, Myocardial eosinophilic infiltration, Neutrophilia, Myeloprol...	ORPHA:3260
Developmental And Epileptic Encephalopathy 1	Microphthalmia	OMIM:308350
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Abnormal EKG, Reduced left ventricular ejection fraction, Right bundle branch block, Cardiomegaly...	ORPHA:268
Familial Exudative Vitreoretinopathy	Lymphedema, Macular edema, Microphthalmia	ORPHA:891
Cerebrooculofacioskeletal Syndrome 1	Dehydration, Microphthalmia	OMIM:214150
Periodic Fever, Familial, Autosomal Dominant	Cervical lymphadenopathy, Hepatomegaly, Gastrointestinal hemorrhage, Hepatic amyloidosis	OMIM:142680
Igg4-Related Submandibular Gland Disease	Enlarged lacrimal glands, Abnormal pancreas morphology, Abnormality of the submandibular glands, ...	ORPHA:449432
Linear Skin Defects With Multiple Congenital Anomalies 2	Microphthalmia	OMIM:300887
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Hypopituitarism, Increased B cell count, Absent peripheral lymph nodes in presence of infection, ...	ORPHA:98813
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Microphthalmia	ORPHA:93267
Ring Chromosome 13 Syndrome	Bifid scrotum, Ambiguous genitalia, Urogenital sinus anomaly, Hypoplasia of the gallbladder, Micr...	ORPHA:96176
Braddock-Carey Syndrome 2	Microphthalmia	OMIM:619981
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia	ORPHA:363741
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
Ketamine-Induced Biliary Dilatation	Dysuria, Abnormal biliary tract morphology	ORPHA:293807
Oculogastrointestinal Neurodevelopmental Syndrome	Unilateral microphthalmos, Bilateral microphthalmos	OMIM:619318
Peutz-Jeghers Syndrome	Intestinal bleeding, Uterine neoplasm, Bile duct polyp, Abnormality of the ureter, Ovarian cyst, ...	OMIM:175200
Myelofibrosis	Hemophagocytosis, Extramedullary hematopoiesis, Splenomegaly, Hepatomegaly, Myeloproliferative di...	OMIM:254450
Truncus Arteriosus	Aortic regurgitation, Abnormal heart morphology, Tetralogy of Fallot, Abnormal heart valve morpho...	ORPHA:3384
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Ectopic posterior pituitary, Decreased response to growth hormone stimulation test, Hypopituitari...	ORPHA:226307
Anemia, Congenital Dyserythropoietic, Type Ia	Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Splenomegaly, Anemia of inadequate pr...	OMIM:224120
Autosomal Dominant Keratitis	Bilateral microphthalmos, Aniridia, Hypoplasia of the fovea, Macular hypoplasia, Hypoplastic iris...	ORPHA:2334
Joubert Syndrome 6	Hepatic fibrosis, Stage 5 chronic kidney disease, Bile duct proliferation, Nephronophthisis	OMIM:610688
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Microphthalmia	OMIM:613730
Frontonasal Dysplasia 1	Cranium bifidum occultum, Anterior basal encephalocele, Microphthalmia	OMIM:136760
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatic fibrosis, Pancreatic hypoplasia, Hepatitis, Cholestasis, Portal hypertension, Splenic cys...	OMIM:610199
Monosomy 18P	Lymphedema, Microphthalmia	ORPHA:1598
Multiple Benign Circumferential Skin Creases On Limbs	Umbilical hernia, Edema, Microphthalmia	ORPHA:2505
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Hypogonadism, Decreased testicular size, Splenomegaly, Hepatomegaly	OMIM:201100
Familial Aortic Dissection	Cardiomegaly, Aortic regurgitation, Abnormal left ventricular function	ORPHA:229
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Lymphedema, Microphthalmia	OMIM:152950
Adams-Oliver Syndrome 2	Oligohydramnios, Microphthalmia	OMIM:614219
Severe Generalized Junctional Epidermolysis Bullosa	Multicystic kidney dysplasia, Dilated cardiomyopathy, Hydroureter, Urinary retention, Ureterocele...	ORPHA:79404
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Cardiomegaly, Pulmonary arterial hypertension, Hypertension	OMIM:613320
Combined Oxidative Phosphorylation Deficiency 37	Elevated circulating hepatic transaminase concentration, Decreased liver function, Hypertrophic c...	OMIM:618329
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Aminoaciduria, Nephrocalcinosis, Cardiomyopathy, Sideroblastic anemia, Splenomegaly, B lymphocyto...	OMIM:616084
Behçet Disease	Aortic regurgitation, Vasculitis, Gastrointestinal hemorrhage, Pulmonary embolism, Cerebral ische...	ORPHA:117
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Oligohydramnios, Encephalocele, Microphthalmia	ORPHA:228390
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Decreased proportion of CD4+CD25+ regulatory T cells, Hepatosplenomegaly, Decreased CD4:CD8 ratio...	OMIM:606367
Common Variable Immunodeficiency	Vasculitis, Elevated circulating hepatic transaminase concentration, Lymphopenia, Abnormality of ...	ORPHA:1572
Mody	Glycosuria, Insulin-resistant diabetes mellitus, Hyperglycemia, Glucose intolerance, Transient ne...	ORPHA:552
Familial Mediterranean Fever	Stage 5 chronic kidney disease, Leukocytosis, Splenomegaly, Orchitis, Peritonitis, Neutrophilia, ...	OMIM:249100
Arterial Calcification, Generalized, Of Infancy, 1	Dilated cardiomyopathy, Congestive heart failure, Renal artery stenosis, Cardiomegaly, Hypertensi...	OMIM:208000
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis	OMIM:617441
Mycosis Fungoides	Lymphadenopathy	OMIM:254400
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Tetralogy of Fallot, Overriding aorta, Absent gallbladder	ORPHA:3186
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Lymphadenitis, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Granulomatosis, Hepatomeg...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Lymphadenitis, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Granulomatosis, Hepatomeg...	OMIM:233710
Papa Syndrome	Proteinuria, Lymphadenopathy	ORPHA:69126
Cardiac Diverticulum	Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, P...	ORPHA:1686
Trisomy 13	Aplasia/Hypoplasia of the iris, Hydrops fetalis, Anophthalmia, Microphthalmia	ORPHA:3378
Trichohepatoenteric Syndrome 1	Aortic regurgitation, Galactosuria, Hepatic fibrosis, Hepatic failure, Tetralogy of Fallot, Chole...	OMIM:222470
Polycythemia Vera	Epistaxis, Gastrointestinal hemorrhage, Acute leukemia, Pulmonary embolism, Polycythemia, Budd-Ch...	ORPHA:729
Elliptocytosis 1	Jaundice, Hemolytic anemia, Splenomegaly, Elliptocytosis	OMIM:611804
Müllerian Aplasia And Hyperandrogenism	Abnormality of the ovary, Hypoplasia of the uterus, Abnormal vagina morphology	ORPHA:247768
Hyper-Igd Syndrome	Lymphadenitis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Elevated urine mevalonic acid leve...	OMIM:260920
Cranioectodermal Dysplasia 2	Portal fibrosis, Elevated circulating hepatic transaminase concentration, Biliary cirrhosis, Poly...	OMIM:613610
Lumbar Syndrome	Bifid scrotum, Cryptorchidism, Hypoplastic labia majora, Ambiguous genitalia, Micropenis, Bifid u...	ORPHA:83628
Baraitser-Winter Syndrome 2	Microphthalmia	OMIM:614583
Neurodegeneration And Seizures Due To Copper Transport Defect	Glandular hypospadias, Tricuspid regurgitation, Cardiomegaly	OMIM:620306
Acute Generalized Exanthematous Pustulosis	Elevated circulating hepatic transaminase concentration, Cholestasis, Renal insufficiency, Leukoc...	ORPHA:293173
Immunodeficiency 87 And Autoimmunity	Biventricular hypertrophy, Cholestasis, Lymphopenia, Decreased CD4:CD8 ratio, Hepatic steatosis, ...	OMIM:619573
Pancreatic Agenesis-Holoprosencephaly Syndrome	Absent gallbladder, Pancreatic aplasia	ORPHA:556955
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Azoospermia, Hypoplasia of the uterus, Bicornuate uterus	OMIM:601076
Gaucher Disease Type 3	Aortic valve calcification, Abnormal heart valve morphology, Pancytopenia, Splenomegaly, Hematuri...	ORPHA:77261
Peters-Plus Syndrome	Renal hypoplasia, Cryptorchidism, Ventricular septal defect, Hydronephrosis, Biliary tract abnorm...	OMIM:261540
Immunodeficiency, Common Variable, 8, With Autoimmunity	Pancytopenia, Splenomegaly, Autoimmune hemolytic anemia, Generalized lymphadenopathy, Decreased p...	OMIM:614700
Coccidioidomycosis	Vasculitis, Vasospasm, Abnormality of the male genitalia, Abnormality of the spleen, Abnormality ...	ORPHA:228123
Proteasome-Associated Autoinflammatory Syndrome 2	Decreased proportion of memory B cells, Lymphadenopathy, Thrombocytopenia, B lymphocytopenia, Inc...	OMIM:618048
Gracile Bone Dysplasia	Ascites, Aniridia, Microphthalmia	OMIM:602361
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Oligohydramnios, Increased nuchal translucency, Microphthalmia	OMIM:618494
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Lymphadenitis, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Granulomatosis, Hepatomeg...	OMIM:233690
Acute Promyelocytic Leukemia	Epistaxis, Diffuse alveolar hemorrhage, Pancytopenia, Leukopenia, Leukocytosis, Hematuria, Lympha...	ORPHA:520
Fanconi Anemia, Complementation Group Q	Bone marrow hypocellularity, Primum atrial septal defect, Biliary atresia	OMIM:615272
Frontonasal Dysplasia 3	Microphthalmia	OMIM:613456
Ogden Syndrome	Torsade de pointes, Cryptorchidism, Ventricular septal defect, Bicuspid aortic valve, Arrhythmia,...	OMIM:300855
Short Fifth Metacarpals-Insulin Resistance Syndrome	Spherocytosis, Splenomegaly	ORPHA:66518
Immunodeficiency 47	Accessory spleen, Hepatic bridging fibrosis, Hepatic fibrosis, Elevated circulating hepatic trans...	OMIM:300972
Glossopharyngeal Neuralgia	Syncope, Jaw claudication, Bradycardia	ORPHA:221098
Triokinase And Fmn Cyclase Deficiency Syndrome	Microphthalmia	OMIM:618805
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Microphthalmia	ORPHA:231736
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25	Syncope, Palpitations, Second degree atrioventricular block, Sinus bradycardia	OMIM:616812
D-Bifunctional Protein Deficiency	Fetal ascites, Elevated circulating hepatic transaminase concentration, Cholestasis, Splenomegaly...	OMIM:261515
Chops Syndrome	Horseshoe kidney, Vesicoureteral reflux, Splenomegaly, Cryptorchidism, Ventricular septal defect,...	OMIM:616368
Sarcoidosis	Abnormal lymph node morphology, Abnormal reproductive system morphology, Arrhythmia, Hepatomegaly...	ORPHA:797
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Midshaft hypospadias, Clitoral hypertrophy, Abnormality of the Leydig cells, Abnormal vagina morp...	ORPHA:168558
Microsporidiosis	Nephritis, Lymphadenitis, Abnormality of the parathyroid gland, Hepatitis, Urethritis, Abnormalit...	ORPHA:2552
Illum Syndrome	Bradycardia	OMIM:208155
Cryohydrocytosis	Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis	OMIM:185020
Meige Disease	Lymph node hypoplasia, Absence of lymph node germinal center	ORPHA:90186
Anterior Segment Dysgenesis 2	Microphthalmia, Aniridia, Anterior segment of eye aplasia, Congenital aphakia	OMIM:610256
Acute Interstitial Pneumonia	Pericardial effusion, Reduced hematocrit, Hypertension, Lymphadenopathy	ORPHA:79126
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos	ORPHA:77299
Cornea Plana 2, Autosomal Recessive	Microphthalmia	OMIM:217300
Pearson Syndrome	Pancytopenia, Hepatic steatosis, Neutropenia, Hepatomegaly, Hypoparathyroidism, Hypoplastic splee...	ORPHA:699
Meckel Syndrome, Type 2	Meningocele, Anencephaly, Encephalocele, Microphthalmia	OMIM:603194
Encephalitis Lethargica	Urinary incontinence, Bradycardia	ORPHA:83600
Leptospirosis	Acute kidney injury, Hypotension, Hepatitis, Pulmonary hemorrhage, Retinal hemorrhage, Elevated s...	ORPHA:509
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Midshaft hypospadias, Clitoral hypertrophy, Abnormality of the Leydig cells, Abnormal vagina morp...	ORPHA:289548
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Microphthalmia	OMIM:613153
Fucosidosis	Oligosacchariduria, Splenomegaly, Cardiomegaly, Hepatomegaly, Glycopeptiduria, Vacuolated lymphoc...	OMIM:230000
Congenital Syphilis	Extramedullary hematopoiesis, Hepatosplenomegaly, Prolonged neonatal jaundice, Anemia, Pancreatit...	ORPHA:499009
Paternal Uniparental Disomy Of Chromosome 6	Precocious puberty, Labial hypertrophy, Cryptorchidism, Ventricular septal defect, Cardiomegaly, ...	ORPHA:96191
Beckwith-Wiedemann Syndrome	Nephropathy, Visceromegaly, Polycythemia, Abnormal pancreas morphology, Hypertrophic cardiomyopat...	ORPHA:116
Mucopolysaccharidosis Type 3	Atrioventricular block, Recurrent tonsillitis, Heparan sulfate excretion in urine, Reduced left v...	ORPHA:581
Osteoporosis-Pseudoglioma Syndrome	Microphthalmia	ORPHA:2788
Lymphedema-Distichiasis Syndrome	Predominantly lower limb lymphedema, Chylothorax, Lymphedema, Nonimmune hydrops fetalis, Micropht...	OMIM:153400
Biliary, Renal, Neurologic, And Skeletal Syndrome	Unbalanced atrioventricular canal defect, Cholestasis, Dark urine, Congenital hepatic fibrosis, V...	OMIM:619534
Immunodeficiency 36 With Lymphoproliferation	Lymphopenia, Splenomegaly, Chronic lymphatic leukemia, Increased proportion of transitional B cel...	OMIM:616005
Meckel Syndrome, Type 1	Accessory spleen, Malformation of the hepatic ductal plate, Abnormality of the uterus, Abnormalit...	OMIM:249000
Deafness, Unilateral, With Delayed Endolymphatic Hydrops	Edema	OMIM:612097
Hemihyperplasia-Multiple Lipomatosis Syndrome	Abnormality of the lymphatic system, Telangiectasia of the skin, Ovarian serous cystadenoma, Hydr...	ORPHA:276280
Insulin-Resistance Syndrome Type B	Postprandial hyperglycemia, Insulin resistance, Glycosuria, Insulin-resistant diabetes mellitus, ...	ORPHA:2298
Autoimmune Lymphoproliferative Syndrome	Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive helper T cells, Abnormal proport...	ORPHA:3261
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Lens coloboma, Umbilical hernia, Microphthalmia	OMIM:618914
Renal Cysts And Diabetes Syndrome	Unilateral renal agenesis, Renal hypoplasia, Elevated circulating hepatic transaminase concentrat...	OMIM:137920
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Exocrine pancreatic insufficiency, Absent gallbladder, Elevated circulating alanine aminotransfer...	OMIM:618500
Anterior Segment Dysgenesis 7	Buphthalmos, Microphthalmia	OMIM:269400
Developmental And Epileptic Encephalopathy 95	Hepatomegaly, Cardiomegaly, Cryptorchidism	OMIM:618143
Hereditary Orotic Aciduria	Aminoaciduria, Oroticaciduria, Abnormality of the ureter, Splenomegaly, Orotic acid crystalluria,...	ORPHA:30
Amyloidosis, Hereditary Systemic 1	Urinary incontinence, Orthostatic hypotension due to autonomic dysfunction, Cardiomegaly, Cardiom...	OMIM:105210
Rh Deficiency Syndrome	Stomatocytosis, Hepatosplenomegaly, Reticulocytosis, Macrocytic anemia, Anisocytosis, Jaundice, S...	ORPHA:71275
Chronic Granulomatous Disease	Splenomegaly, Hepatomegaly, Abnormality of neutrophils, Mediastinal lymphadenopathy, Liver abscess	ORPHA:379
Hyperparathyroidism, Neonatal Severe	Aminoaciduria, Splenomegaly, Hyperphosphaturia, Anemia, Hypercalciuria, Polyuria, Hepatomegaly, P...	OMIM:239200
Spondylo-Ocular Syndrome	Aplasia/Hypoplasia of the lens, Microphthalmia	ORPHA:85194
Kawasaki Disease	Vasculitis, Sterile pyuria, Double outlet right ventricle with subpulmonary ventricular septal de...	ORPHA:2331
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Hepatic sinusoidal dilatation, Tricuspid regurgitation, Splenic cyst, Patent foramen ovale, Crypt...	OMIM:620371
Congenital Disorder Of Glycosylation, Type Iiw	Moderate albuminuria, Elevated circulating hepatic transaminase concentration, Increased hepatic ...	OMIM:619525
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Leukocytosis, Splenomegaly	OMIM:618042
Middle Ear Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy	ORPHA:100084
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Abnormal thymus morphology, Cardiomegaly, Mucosal telangiectasiae	ORPHA:2463
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Male hypogonadism, Precocious puberty in females, Bifid scrotum, Bilateral cryptorchidism, Ovaria...	ORPHA:90793
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Chronic kidney disease, Nephritis, Hepatic fibrosis, Renal insufficiency, Proteinuria, Renal cyst...	OMIM:208500
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Optic nerve hypoplasia, Microphthalmia	OMIM:614833
Chédiak-Higashi Syndrome	Epistaxis, Abnormality of neutrophil physiology, Elevated circulating hepatic transaminase concen...	ORPHA:167
Acute Monoblastic/Monocytic Leukemia	Oliguria, Hypochromic anemia, Acute monocytic leukemia, Cervical lymphadenopathy, Leukocytosis, L...	ORPHA:514
Mucolipidosis Ii Alpha/Beta	Aortic regurgitation, Congestive heart failure, Hypertrophic cardiomyopathy, Splenomegaly, Mitral...	OMIM:252500
Beck-Fahrner Syndrome	Cardiomegaly, Ventricular septal defect	OMIM:618798
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Buphthalmos, Microphthalmia	OMIM:212550
Estrogen Resistance Syndrome	Enlarged polycystic ovaries, Hypoplasia of the uterus, Glucose intolerance, Hyperinsulinemia	ORPHA:785
Farber Disease	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Ascit...	ORPHA:333
Malakoplakia	Urinary bladder inflammation, Urinary hesitancy, Prostate neoplasm, Follicular hyperplasia, Orchi...	ORPHA:556
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Cholestatic liver disease, Elevated circulating hepatic transaminase concentration, Cholestasis, ...	ORPHA:562639
Ring Chromosome 10 Syndrome	Microphthalmia	ORPHA:1438
Tangier Disease	Coronary artery stenosis, Hepatosplenomegaly, Chronic noninfectious lymphadenopathy, Left ventric...	ORPHA:31150
Niemann-Pick Disease, Type C1	Fetal ascites, Sea-blue histiocytosis, Splenomegaly, Fatal liver failure in infancy, Prolonged ne...	OMIM:257220
Pelvis-Shoulder Dysplasia	Spina bifida occulta, Microphthalmia	OMIM:169550
Bresek Syndrome	Optic nerve hypoplasia, Microphthalmia	ORPHA:85284
Reynolds Syndrome	Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Biliary cir...	OMIM:613471
Acute Panmyelosis With Myelofibrosis	Bone marrow hypocellularity, Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Acute mye...	ORPHA:86843
Cat Eye Syndrome	Hypoplastic left heart, Total anomalous pulmonary venous return, Horseshoe kidney, Tetralogy of F...	OMIM:115470
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Anemia, Hemophagocytosis, Pancytopenia, Splenomegaly	OMIM:618398
Nance-Horan Syndrome	Microphthalmia	ORPHA:627
Familial Thrombocytosis	Chronic myelogenous leukemia, Transient ischemic attack, Cerebral ischemia, Splenomegaly, Pulmona...	ORPHA:71493
Seckel Syndrome 2	Microphthalmia	OMIM:606744
Proteasome-Associated Autoinflammatory Syndrome 1	Elevated circulating hepatic transaminase concentration, Parotitis, Congestive heart failure, Mic...	OMIM:256040
Oculotrichoanal Syndrome	Anophthalmia, Microphthalmia	ORPHA:2717
3-Methylglutaconic Aciduria, Type Viii	3-Methylglutaric aciduria, 3-Methylglutaconic aciduria, Neutropenia, Bradycardia, Jaundice	OMIM:617248
Granulomatous Disease, Chronic, X-Linked	Lymphadenitis, Ascites, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Granulomatosis, ...	OMIM:306400
Aregenerative Anemia	Bone marrow hypocellularity, Pancytopenia, Decreased proportion of CD4-positive helper T cells, A...	ORPHA:101096
Aicardi-Goutieres Syndrome 7	Vasculitis, Hematochezia, Hepatitis, Hypertrophic cardiomyopathy, Pancytopenia, Hemolytic anemia,...	OMIM:615846
Neuroblastoma	Elevated urinary homovanillic acid, Elevated urinary vanillylmandelic acid, Elevated urinary cate...	ORPHA:635
Gray Platelet Syndrome	Epistaxis, Abnormal number of alpha granules, Splenomegaly, Thrombocytopenia	OMIM:139090
Subaortic Stenosis-Short Stature Syndrome	Microphthalmia	ORPHA:3191
Lethal Acantholytic Erosive Disorder	Cardiomegaly, Hypovolemic shock, Impaired myocardial contractility, Cardiomyopathy	ORPHA:158687
Neutral Lipid Storage Disease With Myopathy	Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Chronic pancreatitis, He...	OMIM:610717
Cerebrooculofacioskeletal Syndrome 2	Microphthalmia	OMIM:610756
Hennekam Syndrome	Horseshoe kidney, Lymphopenia, Ascites, Splenomegaly, Lymphadenopathy, Pulmonary lymphangiectasia...	ORPHA:2136
Multiple Endocrine Neoplasia Type 2	Thyroid C cell hyperplasia, Hypertensive crisis, Elevated urinary norepinephrine level, Cervical ...	ORPHA:653
Congenital Muscular Dystrophy With Cerebellar Involvement	Optic nerve hypoplasia, Occipital encephalocele, Microphthalmia	ORPHA:370959
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Uterus didelphys, Septate vagina, Aplasia of the uterus, Vaginal atresia, Diabetes mellitus	ORPHA:2237
Perrault Syndrome 4	Hypoplasia of the uterus, Hypoplasia of the ovary, Bicornuate uterus	OMIM:615300
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Unilateral renal agenesis, Horseshoe kidney, Abnormal heart morphology, Transient ischemic attack...	ORPHA:500150
Townes-Brocks Syndrome 2	Bifid uterus, Rectovaginal fistula, Hypospadias	OMIM:617466
Bartsocas-Papas Syndrome 2	Microphthalmia	OMIM:619339
Heart And Brain Malformation Syndrome	Polyhydramnios, Microphthalmia	OMIM:616920
Nasopalpebral Lipoma-Coloboma Syndrome	Microphthalmia	OMIM:167730
Aicardi-Goutières Syndrome	Elevated circulating hepatic transaminase concentration, Neonatal alloimmune thrombocytopenia, Hy...	ORPHA:51
Sarcoidosis, Susceptibility To, 1	Enlarged lacrimal glands, Pericardial effusion, Pancytopenia, Splenomegaly, Hypercalciuria, Gener...	OMIM:181000
Primary Biliary Cholangitis	Hepatic fibrosis, Hepatic failure, Biliary cirrhosis, Hepatitis, Ascites, Portal hypertension, Sp...	ORPHA:186
Microphthalmia, Syndromic 5	Optic nerve hypoplasia, Anophthalmia, Microphthalmia	OMIM:610125
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Aplasia of the uterus, Septate vagina, Uterus didelphys, Aplasia of the vagina	OMIM:146255
Melkersson-Rosenthal Syndrome	Oligosacchariduria, Lymphadenopathy	ORPHA:2483
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Polycythemia, Hy...	ORPHA:309854
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Ethmoidal encephalocele, Bilateral microphthalmos, Optic nerve hypoplasia	OMIM:607597
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Abnormally large globe, Microphthalmia	OMIM:615249
Blau Syndrome	Nephropathy, Large vessel vasculitis, Stage 5 chronic kidney disease, Abnormality of the liver, S...	ORPHA:90340
Simpson-Golabi-Behmel Syndrome	Multicystic kidney dysplasia, Hydroureter, Polysplenia, Supernumerary nipple, Cardiomyopathy, Bun...	ORPHA:373
Familial Tumoral Calcinosis	Hepatomegaly, Nephrocalcinosis, Splenomegaly	ORPHA:53715
Primary Sjögren Syndrome	Normocytic anemia, Vasculitis, Arteritis, Biliary cirrhosis, Parotitis, Chronic active hepatitis,...	ORPHA:289390
Ovarian Hyperstimulation Syndrome	Hemorrhagic ovarian cyst, Ascites, Ovarian cyst, Enlarged polycystic ovaries, Increased circulati...	ORPHA:64739
Joubert Syndrome 37	Microphthalmia	OMIM:619185
Lymphatic Malformation 6	Intestinal lymphangiectasia, Ascites, Splenomegaly, Atrial septal defect, Hydrocele testis	OMIM:616843
Sting-Associated Vasculopathy, Infantile-Onset	Lymphopenia, Leukopenia, Follicular hyperplasia, Telangiectasia, Raynaud phenomenon, Thrombocytos...	OMIM:615934
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Microphthalmia	OMIM:614105
Oculopalatocerebral Syndrome	Microphthalmia	OMIM:257910
46,Xy Sex Reversal 4	Gonadal dysgenesis, Hypoplastic labia majora, Hypoplasia of the uterus, Agonadism, Hypergonadotro...	OMIM:154230
Congenital Disorder Of Glycosylation, Type Iq	Microphthalmia	OMIM:612379
Rodrigues Blindness	Microphthalmia	OMIM:268320
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Elevated circulating hepatic transaminase concentration, Hepatitis, Splenomegaly, Autoimmune hemo...	ORPHA:37042
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Microphthalmia	OMIM:301108
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Minimal change glomerulonephritis, Hematochezia, Hepatitis, Leukocytosis, Splenomegaly, Autoimmun...	OMIM:620565
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Vasculitis, Leukocytosis, Increased proportion of CD4-positive T cells, Lymphadenopathy, Neutroph...	OMIM:617099
Temtamy Syndrome	Microphthalmia	OMIM:218340
Hypothyroidism, Congenital, Nongoitrous, 2	Ectopic thyroid, Thyroid hypoplasia, Bradycardia, Goiter	OMIM:218700
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Severe B lymphocytopenia, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Reduced red cel...	OMIM:102700
Multiple Myeloma	Nephropathy, Acute kidney injury, Splenomegaly, Lymphadenopathy, Anemia, Nephrotic syndrome	ORPHA:29073
Metachromatic Leukodystrophy, Adult Form	Urinary incontinence, Orthostatic hypotension due to autonomic dysfunction, Neoplasm of the gallb...	ORPHA:309271
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Unilateral renal agenesis, Elevated circulating luteinizing hormone level, Abnormal male external...	ORPHA:95699
Normosmic Congenital Hypogonadotropic Hypogonadism	Male hypogonadism, Non-obstructive azoospermia, Decreased testicular size, Azoospermia, Cryptorch...	ORPHA:432
Myoclonic-Astatic Epilepsy	Microphthalmia	ORPHA:1942
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Microphthalmia	OMIM:300863
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Clitoral hypertrophy, Long penis, Precocious puberty in males, Decreased testicular size, Ambiguo...	OMIM:202010
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Microphthalmia	ORPHA:163649
Glycogen Storage Disease Due To Acid Maltase Deficiency	Vasculitis, Oligosacchariduria, Hypertrophic cardiomyopathy, Transient ischemic attack, Shortened...	ORPHA:365
Microphthalmia With Brain And Digit Anomalies	Anophthalmia, Microphthalmia	ORPHA:139471
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Hydrometrocolpos, Horseshoe kidney, Atrioventricular canal defect, Splenomegaly, Hepatomegaly, Va...	OMIM:617088
Sandestig-Stefanova Syndrome	Microphthalmia	OMIM:618804
Solitary Median Maxillary Central Incisor	Anophthalmia, Microphthalmia	OMIM:147250
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Pancreatitis, Splenomegaly	OMIM:207750
Immunodeficiency 31C	Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Impaired lymphocyte tran...	OMIM:614162
Cantú Syndrome	Hypertrophic cardiomyopathy, Cardiomegaly, Abnormal heart valve morphology	ORPHA:1517
Moebius Syndrome	Microphthalmia	OMIM:157900
Wilson Disease	Acute hepatic failure, Hepatic steatosis, Cirrhosis, Elevated circulating alanine aminotransferas...	OMIM:277900
Tetraamelia-Multiple Malformations Syndrome	Polyhydramnios, Septo-optic dysplasia, Microphthalmia	ORPHA:3301
Congenital Total Pulmonary Venous Return Anomaly	Atrial situs ambiguous, Mitral regurgitation, Ventricular septal defect, Atrial septal defect, De...	ORPHA:99125
Chromosome 17Q12 Duplication Syndrome	Microphthalmia	OMIM:614526
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Decreased mean platelet volume, Vasculitis, Hematochezia, Cervical lymphadenopathy, Lymphocytosis...	OMIM:617718
Abetalipoproteinemia	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Congestive heart failu...	ORPHA:14
Frontofacionasal Dysplasia	Encephalocele, Microphthalmia	ORPHA:1791
T-Cell Immunodeficiency With Thymic Aplasia	Decreased proportion of naive T cells, Aplasia of the thymus, Atypical or prolonged hepatitis, Co...	ORPHA:83471
Baraitser-Winter Syndrome 1	Microphthalmia	OMIM:243310
Rere-Related Neurodevelopmental Syndrome	Microphthalmia	ORPHA:494344
Combined Immunodeficiency-Enteropathy Spectrum	Peritoneal abscess, Hepatitis, Autoimmune hemolytic anemia, Ventricular septal defect, Hypoplasia...	ORPHA:436252
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Epistaxis, Stomatocytosis, Splenomegaly, Thrombocytopenia, Hemolytic anemia, Increased mean plate...	OMIM:153670
Fanconi Anemia, Complementation Group S	Microphthalmia	OMIM:617883
Stevenson-Carey Syndrome	Microphthalmia	OMIM:611961
Turner Syndrome Due To Structural X Chromosome Anomalies	Hypoplastic left heart, Hepatic fibrosis, Cholestatic liver disease, Elevated circulating hepatic...	ORPHA:99413
Mosaic Monosomy X	Hypoplastic left heart, Hepatic fibrosis, Cholestatic liver disease, Elevated circulating hepatic...	ORPHA:99228
Monosomy X	Hypoplastic left heart, Hepatic fibrosis, Cholestatic liver disease, Elevated circulating hepatic...	ORPHA:99226
Turner Syndrome	Hypoplastic left heart, Hepatic fibrosis, Cholestatic liver disease, Elevated circulating hepatic...	ORPHA:881
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Bilateral microphthalmos, Umbilical hernia	ORPHA:369891
Hypoplasminogenemia	Abnormality of the ovary, Abnormal fallopian tube morphology, Cervicitis, Nephrolithiasis	ORPHA:722
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Anophthalmia, Microphthalmia	ORPHA:77298
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy, Cryptorchidism, Pa...	OMIM:300967
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Aciduria, Hepatic failure, Elevated circulating hepatic transaminase concentration, Micronodular ...	OMIM:203700
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia	OMIM:305390
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Renal hypoplasia, Splenomegaly	OMIM:612918
Otodental Syndrome	Lens coloboma, Microphthalmia	ORPHA:2791
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uterus	ORPHA:2736
Chondrodysplasia Punctata 2, X-Linked Dominant	Polyhydramnios, Edema, Microphthalmia	OMIM:302960
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Aortic regurgitation, Transient ischemic attack, Ischemic stroke, Cardiomegaly, Bicuspid aortic v...	ORPHA:91387
Autosomal Recessive Malignant Osteopetrosis	Abnormal pulmonary valve morphology, Splenomegaly, Anemia, Pulmonary arterial hypertension, Lymph...	ORPHA:667
Pierson Syndrome	Hypoplasia of the iris, Rieger anomaly, Oligohydramnios, Macular hypoplasia, Hypoplasia of the ci...	OMIM:609049
Meckel Syndrome 14	Oligohydramnios, Occipital encephalocele, Increased nuchal translucency, Microphthalmia	OMIM:619879
Microphthalmia/Coloboma 12	Optic nerve aplasia, Microphthalmia	OMIM:120200
Microcephaly 20, Primary, Autosomal Recessive	Optic nerve hypoplasia, Microphthalmia	OMIM:617914
Abnormal Hair, Joint Laxity, And Developmental Delay	Tricuspid regurgitation, Mitral regurgitation, Sinus bradycardia	OMIM:261990
Mosaic Trisomy 9	Oligohydramnios, Spina bifida, Microphthalmia, Polyhydramnios, Hydrops fetalis	ORPHA:99776
Adams-Oliver Syndrome	Ascites, Encephalocele, Microphthalmia	ORPHA:974
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Hypogonadism, Hepatomegaly, Arrhythmia, Splenomegaly	ORPHA:163746
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Microphthalmia	ORPHA:404440
Joubert Syndrome 14	Meningocele, Encephalocele, Microphthalmia	OMIM:614424
African Trypanosomiasis	Second degree atrioventricular block, Third degree atrioventricular block, Congestive heart failu...	ORPHA:3385
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Decreased testicular size, Cryptorchidism, Polycystic ovaries, Enlarged polycystic ovaries, Ambig...	ORPHA:90796
Fanconi Anemia, Complementation Group I	Optic nerve hypoplasia, Microphthalmia	OMIM:609053
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Microphthalmia	ORPHA:163966
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Mitral valve prolapse, Patent foramen ovale, Cardiomegaly, Bicuspid aortic valve, Left ventricula...	OMIM:245600
Matthew-Wood Syndrome	Anophthalmia, Microphthalmia	ORPHA:2470
Amed Syndrome, Digenic	Hypoplasia of the uterus	OMIM:619151
Galloway-Mowat Syndrome 3	Oligohydramnios, Edema, Microphthalmia	OMIM:617729
Curry-Jones Syndrome	Microphthalmia	ORPHA:1553
Spondyloenchondrodysplasia With Immune Dysregulation	Lymphopenia, T lymphocytopenia, Tubulointerstitial fibrosis, Raynaud phenomenon, Lymphadenopathy,...	OMIM:607944
Microphthalmia With Limb Anomalies	Anophthalmia, Microphthalmia	OMIM:206920
Satoyoshi Syndrome	Hypoplasia of the uterus	OMIM:600705
Seckel Syndrome 7	Hypoplasia of the uterus	OMIM:614851
Vitreoretinochoroidopathy	Microphthalmia	OMIM:193220
Garg-Mishra Progeroid Syndrome	Microphthalmia	OMIM:620601
Igg4-Related Ophthalmic Disease	Sialadenitis, Orchitis, Prostatitis, Abnormality of the anterior pituitary, Pancreatitis, Lymphad...	ORPHA:449563
Okamoto Syndrome	Aortic valve stenosis, Abnormal heart morphology, Unilateral renal hypoplasia, Ureteropelvic junc...	ORPHA:2729
Trichothiodystrophy 3, Photosensitive	Microphthalmia	OMIM:616395
Nasopalpebral Lipoma-Coloboma Syndrome	Bilateral microphthalmos, Microphthalmia	ORPHA:2399
Vacterl With Hydrocephalus	Polyhydramnios, Anophthalmia, Spina bifida, Microphthalmia	ORPHA:3412
Frontonasal Dysplasia 2	Oligohydramnios, Encephalocele, Microphthalmia	OMIM:613451
Cutis Laxa, Autosomal Recessive, Type Ib	Tricuspid regurgitation, Pulmonary arterial hypertension, Bradycardia, Pulmonary insufficiency, R...	OMIM:614437
Warburg Micro Syndrome 4	Microphthalmia	OMIM:615663
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Clitoral hypertrophy, Long penis, Precocious puberty in females, Decreased testicular size, Ambig...	ORPHA:90794
Hyperlipoproteinemia, Type I	Jaundice, Hepatosplenomegaly, Acute pancreatitis, Splenomegaly	OMIM:238600
Norrie Disease	Hypoplasia of the iris, Buphthalmos, Microphthalmia	OMIM:310600
Oeis Complex	Ambiguous genitalia, female, Absent scrotum, Cryptorchidism, Ambiguous genitalia, male, Bifid ute...	OMIM:258040
Microphthalmia/Coloboma 9	Microphthalmia	OMIM:615145
Microcephaly-Micromelia Syndrome	Oligohydramnios, Microphthalmia	OMIM:251230
Manitoba Oculotrichoanal Syndrome	Anophthalmia, Microphthalmia	OMIM:248450
Fanconi Anemia, Complementation Group R	Microphthalmia	OMIM:617244
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Microphthalmia	OMIM:617306
Refsum Disease	Microphthalmia	ORPHA:773
Popliteal Pterygium Syndrome	Small scrotum, Bifid scrotum, Cryptorchidism, Hypoplastic labia majora, Hypoplasia of the uterus,...	OMIM:119500
Johanson-Blizzard Syndrome	Clitoral hypertrophy, Cryptorchidism, Ventricular septal defect, Elevated circulating alanine ami...	OMIM:243800
Hyperlipoproteinemia, Type Id	Hepatomegaly, Recurrent pancreatitis, Pancreatitis, Splenomegaly	OMIM:615947
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Buphthalmos, Microphthalmia	OMIM:616538
3P25.3 Microdeletion Syndrome	Microphthalmia	ORPHA:435638
Warburg Micro Syndrome 3	Microphthalmia	OMIM:614222
Walker-Warburg Syndrome	Anophthalmia, Microphthalmia	ORPHA:899
Marden-Walker Syndrome	Microphthalmia	OMIM:248700
Lmna-Related Cardiocutaneous Progeria Syndrome	Aortic valve stenosis, Ventricular hypertrophy, Congestive heart failure, Mitral regurgitation, A...	ORPHA:363618
Yunis-Varon Syndrome	Clitoral hypertrophy, Cardiomyopathy, Tetralogy of Fallot, Renal artery stenosis, Cryptorchidism,...	ORPHA:3472
Fetal Alcohol Syndrome	Microphthalmia	ORPHA:1915
Congenital Tracheomalacia	Abnormal heart morphology, Tetralogy of Fallot, Ventricular septal defect, Cardiomegaly, Pulmonar...	ORPHA:95430
Cutaneous Neuroendocrine Carcinoma	Lymphoid leukemia, Chronic noninfectious lymphadenopathy	ORPHA:79140
Meckel Syndrome 12	Vaginal atresia, Hypoplasia of the uterus	OMIM:616258
Combined Oxidative Phosphorylation Deficiency 39	Sinus bradycardia	OMIM:618397
Holt-Oram Syndrome	Atrioventricular dissociation, Mitral regurgitation, Mitral valve prolapse, Ventricular septal de...	OMIM:142900
Mosaic Trisomy 1	Polyhydramnios, Increased nuchal translucency, Microphthalmia	ORPHA:1692
Kapur-Toriello Syndrome	Microphthalmia	ORPHA:2328
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Nephrocalcinosis, Cortical nephrocalcinosis, Ascites, Medullary nephroca...	ORPHA:51608
Frontorhiny	Basal encephalocele, Cranium bifidum occultum, Encephalocele, Microphthalmia	ORPHA:391474
Immunodeficiency 82 With Systemic Inflammation	Reduced natural killer cell count, Anoperineal fistula, Hepatitis, Decreased proportion of naive ...	OMIM:619381
Ectodermal Dysplasia And Immunodeficiency 2	Aplasia of the sweat glands, Hepatomegaly, Splenomegaly	OMIM:612132
Selective Igm Deficiency	Decreased proportion of transitional B cells, Lymphadenitis, Decreased proportion of CD8-positive...	ORPHA:331235
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Microphthalmia	OMIM:620098
Papillorenal Syndrome	Edema, Microphthalmia	OMIM:120330
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Cardiomegaly, Telangiectasia of the skin, Telangiectasia of the oral mucosa, Lip telangiectasia	ORPHA:79280
Chromosome 1Q41-Q42 Deletion Syndrome	Microphthalmia	OMIM:612530
Trichothiodystrophy 4, Nonphotosensitive	Microphthalmia	OMIM:234050
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Microphthalmia	OMIM:241410
Woodhouse-Sakati Syndrome	Decreased testicular size, Hypogonadotropic hypogonadism, Micropenis, Hypoplasia of the uterus, D...	OMIM:241080
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Anemia, Hepatosplenomegaly, Lymphadenopathy	ORPHA:85408
Fanconi Anemia, Complementation Group F	Polyhydramnios, Microphthalmia	OMIM:603467
Plague	Hypotension, Lymphadenitis, Splenomegaly, Arrhythmia, Hematemesis, Hepatomegaly, Enlarged mesente...	ORPHA:707
Oculofaciocardiodental Syndrome	Microphthalmia	ORPHA:2712
Woodhouse-Sakati Syndrome	Insulin-resistant diabetes mellitus, Hypogonadism, Decreased testicular size, Hyperinsulinemia, S...	ORPHA:3464
Ectodermal Dysplasia-Blindness Syndrome	Microphthalmia	ORPHA:1806
Chromosome 13Q33-Q34 Deletion Syndrome	Anencephaly, Encephalocele, Microphthalmia	OMIM:619148
3Q29 Microduplication Syndrome	Aniridia, Microphthalmia	ORPHA:251038
Smith-Lemli-Opitz Syndrome	Multicystic kidney dysplasia, Clitoral hypertrophy, Atrioventricular canal defect, Abnormality of...	ORPHA:818
Wolf-Hirschhorn Syndrome	Abdominal situs inversus, Abnormal heart valve morphology, Abnormality of the gallbladder, Crypto...	ORPHA:280
Basel-Vanagaite-Smirin-Yosef Syndrome	Microphthalmia	OMIM:616449
Persistent Hyperplastic Primary Vitreous	Phthisis bulbi, Macular hypoplasia, Buphthalmos, Microphthalmia	ORPHA:91495
Igg4-Related Dacryoadenitis And Sialadenitis	Enlarged lacrimal glands, Abnormality of the submandibular glands, Enlargement of parotid gland, ...	ORPHA:79078
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microphthalmia	OMIM:618571
Rajab Interstitial Lung Disease With Brain Calcifications 1	Small scrotum, Elevated circulating hepatic transaminase concentration, Decreased liver function,...	OMIM:613658
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Chylothorax, Lymphedema, Pleural effusion, Anophthalmia, Microphthalmia, Edema	ORPHA:2526
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Absent natural killer cells, Lymphopenia, Absent peripheral lymph nodes in presence of infection,...	OMIM:600802
Ritscher-Schinzel Syndrome 3	Microphthalmia	OMIM:619135
Nance-Horan Syndrome	Microphthalmia	OMIM:302350
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Phthisis bulbi, Buphthalmos, Microphthalmia	OMIM:221900
Martsolf Syndrome 1	Microphthalmia	OMIM:212720
X-Linked Dominant Chondrodysplasia Punctata	Microphthalmia	ORPHA:35173
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Buphthalmos, Encephalocele, Microphthalmia	OMIM:613150
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Microphthalmia	ORPHA:1352
Micro Syndrome	Microphthalmia	ORPHA:2510
Encephalocraniocutaneous Lipomatosis	Hypoplasia of the iris, Microphthalmia	OMIM:613001
Cerebrooculofacioskeletal Syndrome 4	Bilateral microphthalmos	OMIM:610758
Mycophenolate Mofetil Embryopathy	Hydrops fetalis, Microphthalmia	ORPHA:268249
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Microphthalmia	ORPHA:2728
Galloway-Mowat Syndrome 1	Hypoplasia of the iris, Oligohydramnios, Microphthalmia	OMIM:251300
Holoprosencephaly-Postaxial Polydactyly Syndrome	Polyhydramnios, Umbilical hernia, Encephalocele, Microphthalmia	ORPHA:2166
Immunodeficiency 55	Lymphopenia, Absent natural killer cells, Lymphadenopathy, Neutropenia	OMIM:617827
Fryns Syndrome	Polyhydramnios, Microphthalmia	ORPHA:2059
Warburg Micro Syndrome 2	Microphthalmia	OMIM:614225
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Aplasia of the uterus, Absent external genitalia, Aplasia of the vagina	OMIM:271520
Malt Lymphoma	Anemia, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:52417
Pontocerebellar Hypoplasia Type 7	Clitoral hypertrophy, Microphallus, Gonadal dysgenesis, Cryptorchidism, Aplasia of the uterus, Am...	ORPHA:284339
Familial Adenomatous Polyposis	Pituitary adenoma, Goiter, Pancreatic adenocarcinoma, Biliary tract obstruction, Hepatoblastoma, ...	ORPHA:733
Trisomy 18	Oligohydramnios, Anencephaly, Spina bifida, Microphthalmia	ORPHA:3380
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Oligohydramnios, Microphthalmia	ORPHA:364577
Premature Aging Syndrome, Penttinen Type	Corneal stromal edema, Microphthalmia	OMIM:601812
Adenocarcinoma Of The Anal Canal	Intestinal bleeding, Lymphadenopathy, Neoplasm of the liver	ORPHA:424016
Oculoauricular Syndrome	Spina bifida occulta, Macular hypoplasia, Phthisis bulbi, Microphthalmia, Microphakia	OMIM:612109
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Microphthalmia	OMIM:253800
Oculodentodigital Dysplasia, Autosomal Recessive	Microphthalmia	OMIM:257850
Skin Creases, Congenital Symmetric Circumferential, 1	Microphthalmia	OMIM:156610
Kapur-Toriello Syndrome	Microphthalmia	OMIM:244300
Joubert Syndrome 2	Encephalocele, Microphthalmia	OMIM:608091
Cushing Syndrome Due To Ectopic Acth Secretion	Abnormal lymph node morphology, Increased urinary cortisol level, Pancreatic adenocarcinoma, Neop...	ORPHA:99889
Systemic Lupus Erythematosus	Hemolytic anemia, Leukopenia, Hematuria, Proteinuria, Lupus nephritis, Lymphadenopathy, Raynaud p...	ORPHA:536
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Optic nerve hypoplasia, Encephalocele, Microphthalmia	OMIM:614643
Focal Dermal Hypoplasia	Hypoplasia of the iris, Umbilical hernia, Spina bifida, Microphthalmia	ORPHA:2092
Trichothiodystrophy 1, Photosensitive	Microphthalmia	OMIM:601675
Mosaic Variegated Aneuploidy Syndrome	Ascites, Increased nuchal translucency, Polyhydramnios, Microphthalmia	ORPHA:1052
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Anophthalmia, Microphthalmia	OMIM:615877
Thrombocytopenia-Absent Radius Syndrome	Aplasia of the uterus	ORPHA:3320
Pseudotrisomy 13 Syndrome	Encephalocele, Microphthalmia	OMIM:264480
Duane-Radial Ray Syndrome	Spina bifida occulta, Optic disc hypoplasia, Microphthalmia	OMIM:607323
Curry-Jones Syndrome	Occipital meningocele, Lipomyelomeningocele, Microphthalmia	OMIM:601707
Microphthalmia, Lenz Type	Microphthalmia	ORPHA:568
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Microphthalmia, Buphthalmos, Meningoencephalocele, Optic nerve hypoplasia	OMIM:236670
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Generalized lymphadenopathy	OMIM:620232
Pelvis-Shoulder Dysplasia	Hydranencephaly, Spina bifida, Bilateral microphthalmos	ORPHA:2839
Fraser Syndrome 2	Oligohydramnios, Microphthalmia	OMIM:617666
Meckel Syndrome	Oligohydramnios, Aplasia/Hypoplasia of the iris, Encephalocele, Anophthalmia, Microphthalmia, Ane...	ORPHA:564
Xeroderma Pigmentosum, Complementation Group B	Microphthalmia	OMIM:610651
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Microphthalmia	OMIM:618727
8Q21.11 Microdeletion Syndrome	Microphthalmia	ORPHA:284160
Cohen Syndrome	Microphthalmia	ORPHA:193
Xeroderma Pigmentosum, Complementation Group D	Microphthalmia	OMIM:278730
3Q29 Microdeletion Syndrome	Microphthalmia	ORPHA:65286
Chromosome 8Q21.11 Deletion Syndrome	Microphthalmia	OMIM:614230
Microphthalmia, Syndromic 3	Optic nerve aplasia, Optic nerve hypoplasia, Anophthalmia, Microphthalmia	OMIM:206900
Neurofibroma	Intestinal bleeding, Enlargement of parotid gland, Abnormal biliary tract morphology	ORPHA:252183
Incontinentia Pigmenti	Spina bifida occulta, Umbilical hernia, Microphthalmia	ORPHA:464
Phace Association	Optic nerve hypoplasia, Microphthalmia	OMIM:606519
Chromosome 17Q12 Deletion Syndrome	Cryptorchidism, Ovarian cyst, Aplasia of the vagina, Aplasia of the uterus, Unicornuate uterus	OMIM:614527
Linear Skin Defects With Multiple Congenital Anomalies 3	Microphthalmia	OMIM:300952
Stromme Syndrome	Optic nerve hypoplasia, Microphthalmia	OMIM:243605
Fanconi Anemia, Complementation Group N	Microphthalmia	OMIM:610832
Hallermann-Streiff Syndrome	Spina bifida, Microphthalmia	OMIM:234100
Holoprosencephaly	Spinal dysraphism, Branchial anomaly, Encephalocele, Anophthalmia, Microphthalmia	ORPHA:2162
Monosomy 9Q22.3	Umbilical hernia, Microphthalmia	ORPHA:77301
Acromesomelic Dysplasia 3	Hypoplasia of the uterus, Hypergonadotropic hypogonadism	OMIM:609441
Ohdo Syndrome, X-Linked	Microphthalmia	OMIM:300895
Cousin Syndrome	Hydranencephaly, Microphthalmia	OMIM:260660
2Q31.1 Microdeletion Syndrome	Microphthalmia	ORPHA:251014
Phocomelia, Schinzel Type	Aplasia of the uterus, Hypoplasia of penis, Cryptorchidism	ORPHA:2879
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Encephalocele, Microphthalmia	OMIM:616300
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Anophthalmia, Microphthalmia	ORPHA:2250
Neu-Laxova Syndrome 1	Generalized edema, Hydranencephaly, Small placenta, Short umbilical cord, Spina bifida, Microphth...	OMIM:256520
1Q21.1 Microdeletion Syndrome	Microphthalmia	ORPHA:250989
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Microphthalmia	ORPHA:85167
Blepharophimosis, Ptosis, And Epicanthus Inversus	Microphthalmia	OMIM:110100
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Hypoplasia of the uterus	OMIM:615866
Momo Syndrome	Bilateral microphthalmos	ORPHA:2563
Fanconi Anemia, Complementation Group E	Microphthalmia	OMIM:600901
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Abnormal reproductive system morphology, Bifid uterus	ORPHA:1521
Isolated Arrhinia	Microphthalmia	ORPHA:1134
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Microphthalmia	ORPHA:1236
Fanconi Anemia, Complementation Group A	Microphthalmia	OMIM:227650
Basal Cell Nevus Syndrome 1	Spina bifida, Microphthalmia	OMIM:109400
Linear Skin Defects With Multiple Congenital Anomalies 1	Clitoral hypertrophy, Ovotestis, Chordee, Micropenis, Hypoplasia of the uterus, Hypospadias	OMIM:309801
Atelis Syndrome 2	Microphthalmia	OMIM:620185
Dubowitz Syndrome	Hypoplasia of the iris, Microphthalmia	OMIM:223370
Oculocerebrorenal Syndrome Of Lowe	Umbilical hernia, Joint swelling, Microphthalmia, Buphthalmos, Dehydration	ORPHA:534
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Aplasia of the uterus, Aplasia of the vagina	ORPHA:457284
Alström Syndrome	Chronic kidney disease, Testicular fibrosis, Hepatosplenomegaly, Hepatic steatosis, Polycystic ov...	ORPHA:64
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Microphthalmia	OMIM:608940
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Unilateral microphthalmos	OMIM:618874
Fanconi Anemia, Complementation Group L	Micropenis, Aplasia of the uterus	OMIM:614083
Chikungunya	Cervical lymphadenopathy, Epistaxis, Raynaud phenomenon, Lymphadenopathy	ORPHA:324625
Teebi-Shaltout Syndrome	Microphthalmia	OMIM:272950
Fanconi Anemia	Umbilical hernia, Oligohydramnios, Aplasia/Hypoplasia of the iris, Spina bifida, Microphthalmia	ORPHA:84
Incontinentia Pigmenti	Hypoplasia of the fovea, Microphthalmia	OMIM:308300
Jacobsen Syndrome	Macular hypoplasia, Microphthalmia	OMIM:147791
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Optic nerve hypoplasia, Spina bifida, Microphthalmia	ORPHA:508498
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Urinary incontinence, Sinus bradycardia	OMIM:619482
Oculo-Palato-Cerebral Syndrome	Microphthalmia	ORPHA:2714
Fanconi Anemia, Complementation Group C	Microphthalmia	OMIM:227645
Microphthalmia, Syndromic 9	Hypoplasia of the uterus, Bicornuate uterus, Cryptorchidism	OMIM:601186
Pallister-Hall Syndrome	Microphthalmia	OMIM:146510
Fryns Syndrome	Polyhydramnios, Chylothorax, Microphthalmia	OMIM:229850
Myoectodermal Gonadal Dysgenesis Syndrome	Hypoplastic labia majora, Hypoplasia of the uterus, Clitoral hypoplasia, Gonadal dysgenesis	OMIM:618419
Acrofrontofacionasal Dysostosis 1	Microphthalmia	OMIM:201180
Treacher-Collins Syndrome	Branchial fistula, Encephalocele, Microphthalmia	ORPHA:861
Exstrophy-Epispadias Complex	Penoscrotal transposition, Bifid scrotum, Cystocele, Cryptorchidism, Bifid penis, Bifid uterus, A...	ORPHA:322
Linear Nevus Sebaceus Syndrome	Microphthalmia	ORPHA:2612
Acro-Renal-Ocular Syndrome	Optic disc hypoplasia, Microphthalmia	ORPHA:959
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Small scrotum, Clitoral hypertrophy, Vesicovaginal fistula, Bifid scrotum, Hypoglycemia, Cryptorc...	OMIM:201750
Limb-Mammary Syndrome	Aplasia of the uterus, Aplasia of the ovary	ORPHA:69085
Roberts Syndrome	Polyhydramnios, Microphthalmia	ORPHA:3103
Microgastria-Limb Reduction Defect Syndrome	Anophthalmia, Microphthalmia	ORPHA:2538
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Polyhydramnios, Branchial cyst, Microphthalmia	OMIM:620186
Oculodentodigital Dysplasia	Microphthalmia	OMIM:164200
Trichothiodystrophy	Bilateral microphthalmos, Umbilical hernia	ORPHA:33364
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Oligohydramnios, Microphthalmia	OMIM:608670
Holoprosencephaly 7	Occipital meningocele, Bilateral microphthalmos, Microphthalmia	OMIM:610828
Hallermann-Streiff Syndrome	Microphthalmia	ORPHA:2108
Myhre Syndrome	Pericardial effusion, Microphthalmia	OMIM:139210
Kenny-Caffey Syndrome, Type 2	Microphthalmia	OMIM:127000
Rothmund-Thomson Syndrome, Type 2	Microphthalmia	OMIM:268400
Fanconi Anemia, Complementation Group D2	Microphthalmia	OMIM:227646
Cockayne Syndrome B	Hypoplasia of the iris, Microphthalmia	OMIM:133540
Aicardi Syndrome	Spina bifida, Microphthalmia	OMIM:304050
Charge Syndrome	Polyhydramnios, Umbilical hernia, Anophthalmia, Microphthalmia	ORPHA:138
Bartsocas-Papas Syndrome 1	Microphthalmia	OMIM:263650
Thrombocytopenia-Absent Radius Syndrome	Aplasia of the uterus	OMIM:274000
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Microphthalmia	OMIM:616975
Fontaine Progeroid Syndrome	Oligohydramnios, Umbilical hernia, Microphthalmia	OMIM:612289
Cockayne Syndrome Type 3	Microphthalmia	ORPHA:90324
Phace Syndrome	Lens coloboma, Optic nerve hypoplasia, Microphthalmia	ORPHA:42775
Aicardi Syndrome	Microphthalmia	ORPHA:50
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Microphthalmia	OMIM:620005
Microphthalmia With Limb Anomalies	True anophthalmia, Microphthalmia	ORPHA:1106
Microphthalmia, Syndromic 2	Phthisis bulbi, Umbilical hernia, Anophthalmia, Microphthalmia	OMIM:300166
Traboulsi Syndrome	Microphthalmia	OMIM:601552
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Microphthalmia	OMIM:609945
Frontofacionasal Dysplasia	Cranium bifidum occultum, Microphthalmia	OMIM:229400
Degcags Syndrome	Polyhydramnios, Microphthalmia	OMIM:619488
Chromosome 13Q14 Deletion Syndrome	Umbilical hernia, Microphthalmia	OMIM:613884
Osteoporosis-Pseudoglioma Syndrome	Phthisis bulbi, Microphthalmia	OMIM:259770
Holoprosencephaly 9	Optic nerve hypoplasia, Occipital meningocele, Anophthalmia, Microphthalmia	OMIM:610829
Monosomy 9P	Microphthalmia	ORPHA:261112
Mend Syndrome	Microphthalmia	ORPHA:401973
Microphthalmia With Linear Skin Defects Syndrome	Anophthalmia, Microphthalmia	ORPHA:2556
Cockayne Syndrome	Microphthalmia	ORPHA:191
Focal Dermal Hypoplasia	Umbilical hernia, Myelomeningocele, Aniridia, Anophthalmia, Microphthalmia, Spina bifida occulta	OMIM:305600
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Cranium bifidum occultum, Microphthalmia	ORPHA:306542
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Bilateral microphthalmos, Optic nerve hypoplasia	ORPHA:468631
Bosma Arhinia Microphthalmia Syndrome	Microphthalmia	OMIM:603457
Singleton-Merten Syndrome 1	Aortic valve stenosis, Aortic valve calcification, Congestive heart failure, Cardiomegaly, Mitral...	OMIM:182250
Ehlers-Danlos Syndrome, Vascular Type	Uterine rupture, Cystocele, Cryptorchidism, Uterine prolapse, Cervical insufficiency	OMIM:130050
Skin Creases, Congenital Symmetric Circumferential, 2	Microphthalmia	OMIM:616734
Proboscis Lateralis	Optic nerve hypoplasia, Anophthalmia, Microphthalmia	ORPHA:141099
Hydrolethalus Syndrome 1	Polyhydramnios, Anencephaly, Microphthalmia	OMIM:236680
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Buphthalmos, Hypoplasia of the retina, Microphthalmia	OMIM:253280
Wolf-Hirschhorn Syndrome	Precocious puberty, Aplasia of the uterus, Hypospadias, Cryptorchidism	OMIM:194190
Coffin-Siris Syndrome 1	Aplasia of the uterus, Clitoral hypertrophy, Hypospadias, Cryptorchidism	OMIM:135900
Monosomy 13Q14	Microphthalmia	ORPHA:1587
Neuroocular Syndrome 1	Hypoplasia of the fovea, Lens coloboma, Umbilical hernia, Microphthalmia	OMIM:619539
Fraser Syndrome	Umbilical hernia, Myelomeningocele, Encephalocele, Anophthalmia, Microphthalmia	ORPHA:2052
Charge Syndrome	Umbilical hernia, Unilateral microphthalmos, Anophthalmia, Microphthalmia, Polyhydramnios	OMIM:214800
Adams-Oliver Syndrome 1	Encephalocele, Microphthalmia	OMIM:100300
Witteveen-Kolk Syndrome	Polyhydramnios, Branchial fistula, Microphthalmia	OMIM:613406
Renpenning Syndrome 1	Microphthalmia	OMIM:309500
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Small scrotum, Cryptorchidism, Aplasia of the uterus, Anteriorly displaced genitalia, Hypospadias	OMIM:276820
Townes-Brocks Syndrome 1	Bifid scrotum, Cryptorchidism, Rectoperineal fistula, Bifid uterus, Rectovaginal fistula, Hypospa...	OMIM:107480
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Microphthalmia	OMIM:612474
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Polycystic ovaries	ORPHA:572333
8Q24.3 Microdeletion Syndrome	Branchial cyst, Bilateral microphthalmos, Oligohydramnios, Spina bifida occulta, Optic nerve hypo...	ORPHA:508488
Pallister-Hall Syndrome	Oligohydramnios, Umbilical hernia, Microphthalmia	ORPHA:672
Tetraamelia Syndrome 1	Microphthalmia	OMIM:273395
Norrie Disease	Diabetes mellitus, Uterine rupture, Cryptorchidism	ORPHA:649
Fraser Syndrome 1	Myelomeningocele, Encephalocele, Anophthalmia, Bilateral microphthalmos	OMIM:219000
Loeys-Dietz Syndrome	Uterine rupture	ORPHA:60030
Autosomal Dominant Kenny-Caffey Syndrome	Bilateral microphthalmos	ORPHA:93325
Lowe Oculocerebrorenal Syndrome	Microphthalmia	OMIM:309000
Branchiooculofacial Syndrome	Branchial anomaly, Anophthalmia, Microphthalmia	OMIM:113620
Holoprosencephaly 1	Microphthalmia	OMIM:236100
Microphthalmia, Syndromic 6	Anophthalmia, Microphthalmia	OMIM:607932
Vascular Ehlers-Danlos Syndrome	Uterine rupture, Cystocele, Cryptorchidism, Uterine prolapse, Hypospadias	ORPHA:286
Roberts-Sc Phocomelia Syndrome	Polyhydramnios, Frontal encephalocele, Microphthalmia	OMIM:268300
Pallister-Killian Syndrome	Small scrotum, Cryptorchidism, Aplasia of the uterus, Hypoplastic labia majora, Aplasia of the up...	OMIM:601803
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hypoplasia of the iris, Microphthalmia	OMIM:175780
Treacher Collins Syndrome 1	Bilateral microphthalmos	OMIM:154500
Peters Plus Syndrome	Hypoplasia of the uterus, Hypospadias, Cryptorchidism, Clitoral hypoplasia	ORPHA:709
Mowat-Wilson Syndrome	Microphthalmia	OMIM:235730
Holoprosencephaly 2	Microphthalmia	OMIM:157170
Townes-Brocks Syndrome	Microphthalmia	ORPHA:857
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Microphthalmia	ORPHA:261537
Mowat-Wilson Syndrome	Microphthalmia	ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Microphthalmia	ORPHA:261552
Craniofacial Microsomia 1	Branchial anomaly, Occipital encephalocele, Anophthalmia, Microphthalmia	OMIM:164210
Microphthalmia, Syndromic 1	Anophthalmia, Microphthalmia	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 Cand1

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 Cand1.

No publications found that use IMPC mice or data for Cand1.

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MGI Allele	Allele Type	Produced
Cand1^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Cand1^em1(IMPC)Mbp	Exon Deletion	Mice, Tissue
Cand1^{tm1a(EUCOMM)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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Gene: Cand1 MGI:1261820

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

X-ray

X-ray

Gross Morphology Embryo E14.5-E15.5

MicroCT E14.5-E15.5

Human diseases caused by Cand1 mutations

Histopathology

IMPC related publications

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