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Gene: Ncf1 MGI:97283

Gene Summary

Name:

neutrophil cytosolic factor 1

Synonyms:

NADPH oxidase subunit (47kDa), p47^phox, p47phox, NOXO2, Ncf-1

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
abnormal lymph node morphology	Ncf1^em1(IMPC)Mbp	HOM	Early adult	0.00
enlarged kidney	Ncf1^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal kidney morphology	Ncf1^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal lung morphology	Ncf1^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal eye morphology	Ncf1^em1(IMPC)Mbp	HOM	Early adult	0.00
enlarged spleen	Ncf1^em1(IMPC)Mbp	HOM	Late adult	0.00
enlarged lymph nodes	Ncf1^em1(IMPC)Mbp	HOM	Early adult	0.00
decreased locomotor activity	Ncf1^em1(IMPC)Mbp	HOM	Early adult	8.62×10^-21
enlarged heart atrium	Ncf1^em1(IMPC)Mbp	HOM	Late adult	0.00
decreased anxiety-related response	Ncf1^em1(IMPC)Mbp	HOM	Early adult	6.96×10^-06
single kidney	Ncf1^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal spleen morphology	Ncf1^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal heart morphology	Ncf1^em1(IMPC)Mbp	HOM	Late adult	0.00
decreased thigmotaxis	Ncf1^em1(IMPC)Mbp	HOM	Early adult	2.09×10^-07
abnormal kidney morphology	Ncf1^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal skin morphology	Ncf1^em1(IMPC)Mbp	HOM	Late adult	0.00
small kidney	Ncf1^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal behavior	Ncf1^em1(IMPC)Mbp	HOM	Early adult	2.02×10^-07

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

31 Images

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X-ray

XRay Images Whole Body Dorso Ventral

89 Images

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Histopathology

Images

2 Images

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Histopathology

Images

6 Images

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X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Human diseases caused by Ncf1 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 Ncf1 (3 diseases)
Human diseases predicted to be associated with Ncf1 (1029 diseases)

The table below shows human diseases associated to Ncf1 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Chronic Granulomatous Disease	Recurrent respiratory infections, Hepatomegaly, Liver abscess, Sinusitis, Eczema, Abnormality of ...	ORPHA:379
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra...	OMIM:233700
Williams Syndrome	Bicuspid aortic valve, Elevated circulating creatine kinase concentration, Myocardial infarction,...	ORPHA:904

The table below shows human diseases predicted to be associated to Ncf1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Appendicitis, Proneness To	Abnormal large intestine morphology	OMIM:107700
Low Phospholipid-Associated Cholelithiasis	Elevated hepatic transaminase, Liver abscess, Cholangitis, Intrahepatic cholestasis, Biliary cirr...	ORPHA:69663
Melioidosis	Shock, Brain abscess, Foot osteomyelitis, Lung abscess, Liver abscess, Pneumonia, Respiratory tra...	ORPHA:31202
Meckel Diverticulum	Meckel diverticulum	OMIM:155140
Chronic Granulomatous Disease	Recurrent respiratory infections, Hepatomegaly, Liver abscess, Sinusitis, Eczema, Abnormality of ...	ORPHA:379
Blood Group, Cromer System	Protein-losing enteropathy	OMIM:613793
Specific Granule Deficiency 1	Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ...	OMIM:245480
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Elevated hepatic transaminase, Brain abscess, Neutrophilia, Liver abscess, Abnormality of the pan...	ORPHA:54251
Polycystic Kidney Disease 5	Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co...	OMIM:617610
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection	Chronic furunculosis, Pyoderma gangrenosum, Cutaneous abscess	OMIM:619986
Gallbladder Disease 1	Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Hepatic f...	OMIM:600803
Immunodeficiency 67	Liver abscess, Transient neutropenia, Increased circulating IgE level	OMIM:607676
Pulmonary Arteriovenous Malformation	Brain abscess, Liver abscess, Transient ischemic attack, Epistaxis, Myocardial infarction, Hemoth...	ORPHA:2038
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra...	OMIM:233710
Caroli Disease	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Splenomegaly, ...	ORPHA:53035
Caroli Syndrome	Liver abscess, Cholangitis, Abnormal intrahepatic bile duct morphology, Leukopenia, Hepatomegaly,...	ORPHA:480520
Neutrophil Immunodeficiency Syndrome	Leukocytosis, Abnormality of neutrophil physiology	ORPHA:183707
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra...	OMIM:233690
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Chronic gastritis, Liver abscess, Cholangitis, Bronchitis, Cholecystitis, Decreased circulating I...	ORPHA:183675
Immunodeficiency 30	Recurrent mycobacterial infections, Recurrent infections	OMIM:614891
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Bicuspid aortic valve, Unilateral renal agenesis, Ureteral atresia, Bilateral renal agenesis, Hyp...	OMIM:618845
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
Amoebiasis Due To Entamoeba Histolytica	Elevated hepatic transaminase, Lung abscess, Liver abscess, Acute colitis, Congestive heart failu...	ORPHA:67
Biliary Atresia, Extrahepatic	Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres...	OMIM:210500
Necrobiosis Lipoidica	Inflammatory abnormality of the skin, Telangiectasia of the skin, Erythema, Skin ulcer, Granuloma...	ORPHA:542592
Generalized Pseudohypoaldosteronism Type 1	Hyponatremia, Osteomyelitis, Glucocortocoid-insensitive primary hyperaldosteronism, Pustule, Whee...	ORPHA:171876
Granulomatous Disease, Chronic, X-Linked	Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra...	OMIM:306400
Alveolar Echinococcosis	Pulmonary cyst, Liver abscess, Eosinophilia, Cholangitis, Portal hypertension, Hepatic cysts, Pan...	ORPHA:284
Brucellosis	Liver abscess, Bronchitis, Knee osteoarthritis, Leukopenia, Increased circulating IgG level, Abno...	ORPHA:1304
Granulomatous disease with defect in neutrophil chemotaxis	Impaired neutrophil killing of staphylococci, Recurrent staphylococcal infections	OMIM:233670
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol...	OMIM:616217
Immunodeficiency 86	Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level	OMIM:619549
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib...	OMIM:613812
Mantle Cell Lymphoma	Splenomegaly, Anorexia, Lymphadenopathy	ORPHA:52416
Cholestasis, Progressive Familial Intrahepatic, 3	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Po...	OMIM:602347
Immunodeficiency 32B	Recurrent respiratory infections, Hepatomegaly, Neutrophilia, Sinusitis, Pneumonia, Eosinophilia,...	OMIM:226990
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple...	OMIM:613470
Immunodeficiency 31A	Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent...	OMIM:614892
Fetal Cytomegalovirus Syndrome	Splenomegaly, Hepatomegaly, Anemia	ORPHA:294
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2	Chronic kidney disease, Hypoplastic left heart, Renal hypoplasia, Unilateral renal agenesis	OMIM:617661
Late-Onset Familial Hypoaldosteronism	Hyponatremia, Orthostatic hypotension, Postnatal growth retardation, Hyperkalemia, Abnormal circu...	ORPHA:556037
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Abnormal lymph node morphology	OMIM:136580
Listeriosis	Liver abscess, Abnormal cellular immune system morphology, Granulomatosis, Conjunctivitis, Cholec...	ORPHA:533
Hepatorenocardiac Degenerative Fibrosis	Hypersplenism, Renal cyst, Hepatosplenomegaly, Tubular luminal dilatation, Renal interstitial fib...	OMIM:619902
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,...	OMIM:619662
Early-Onset Familial Hypoaldosteronism	Hyponatremia, Orthostatic hypotension, Postnatal growth retardation, Hyperkalemia, Abnormal circu...	ORPHA:556030
Papillon-Lefèvre Syndrome	Recurrent respiratory infections, Recurrent cutaneous abscess formation, Liver abscess, Severe pe...	ORPHA:678
Congenital Anomalies Of Kidney And Urinary Tract 1	Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu...	OMIM:610805
Congenital Disorder Of Glycosylation, Type Iic	Neutrophilia, Pneumonia, Periodontitis, Recurrent otitis media, Reduction of neutrophil motility,...	OMIM:266265
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Dry skin, Sclerosing chol...	OMIM:607626
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Immunodeficiency 81	Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h...	OMIM:619374
Renal Hypoplasia	Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ...	ORPHA:93101
Cardiomyopathy, Dilated, 1I	Reduced systolic function, Elevated circulating creatine kinase concentration, Cardiomegaly, Cong...	OMIM:604765
Congenital Bile Acid Synthesis Defect Type 3	Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala...	ORPHA:79302
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Chronic oral candidiasis, Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Neu...	OMIM:150550
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Splenomegaly, Hepatomegaly	ORPHA:2274
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Pancytopenia, Acne, Microcytic anemia, Pyoderma gangrenosum, Hepatosplenomegaly, Cystic acne, Art...	OMIM:604416
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Truncus arteriosus, Ventricular septal defect, Unilateral renal agenesis	OMIM:601355
Immunodeficiency, Common Variable, 6	Hepatomegaly, Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposi...	OMIM:613496
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Abscess, Eczema, Perianal abscess, Splenomegaly, Lymphadeni...	OMIM:618935
Oligomeganephronia	Renal insufficiency, Pulmonary venous occlusion, Proteinuria, Unilateral renal agenesis, Secundum...	ORPHA:2260
Chilblain Lupus 1	Raynaud phenomenon, Chilblains, Skin ulcer	OMIM:610448
Nocardiosis	Brain abscess, Pericarditis, Liver abscess, Osteomyelitis, Pneumonia, Keratitis, Lymphadenitis, P...	ORPHA:31204
Immunodeficiency 31B	Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections	OMIM:613796
Beta-Thalassemia	Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Hepatitis, Skin ulcer, Anemia...	ORPHA:848
Congenital Absence Of Upper Arm And Forearm With Hand Present	Abnormal lung morphology, Abnormal cardiac septum morphology, Renal agenesis, Abnormal heart morp...	ORPHA:294975
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Hyponatremia, Hyperkalemia, Hyperactive renin-angiotensin system, Hyperaldosteronism, Increased c...	OMIM:177735
Reticular Dysgenesis	Recurrent respiratory infections, Skin rash, Abnormality of neutrophils, Skin ulcer, Decreased ci...	ORPHA:33355
Pandas	Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Enuresis, Tics, ...	ORPHA:66624
Squamous Cell Carcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99977
Pulmonary Nodular Lymphoid Hyperplasia	Mediastinal lymphadenopathy, Follicular hyperplasia	ORPHA:60026
Isolated Agammaglobulinemia	Recurrent respiratory infections, Recurrent cutaneous abscess formation, Sinusitis, Skin rash, Pn...	ORPHA:229717
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly, 3-Methylglutaconic aciduria	OMIM:619813
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Tegumentary leishmaniasis susceptibility, Pneumonia, Lymphadenitis, Recurrent mycobacterial infec...	ORPHA:319552
Hepatic Venoocclusive Disease With Immunodeficiency	Absence of lymph node germinal center	OMIM:235550
Corticosterone Methyloxidase Type I Deficiency	Hyponatremia, Hyperkalemia, Increased circulating renin level, Hypotension, Decreased circulating...	OMIM:203400
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Ventricular septal defect, Biventricular hypertrophy, Hypertension, Second degree atrioventricula...	OMIM:615474
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Splenomegaly, Enlarged kidney, Hepatomegaly	OMIM:615285
Corticosterone Methyloxidase Type Ii Deficiency	Hyponatremia, Orthostatic hypotension, Increased circulating corticosterone level, Decreased circ...	OMIM:610600
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness	Unilateral renal agenesis	OMIM:235740
Holzgreve Syndrome	Renal agenesis, Hypoplastic left heart, Renal hypoplasia	OMIM:236110
Immunodeficiency 38 With Basal Ganglia Calcification	Lymphadenopathy	OMIM:616126
Hereditary Progressive Mucinous Histiocytosis	Lymphadenopathy	ORPHA:158025
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Crossed fused renal ectopia, Ventricular septal defect, Hypoplastic right heart, Unilateral renal...	OMIM:618142
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level, Hypotension	OMIM:620125
Congenital Myopathy 8	Reduced vital capacity, Internally nucleated skeletal muscle fibers, Cardiomegaly, Congestive hea...	OMIM:618654
Chilblain Lupus	Inflammatory abnormality of the skin, Skin rash, Raynaud phenomenon, Discoid lupus rash, Skin ulc...	ORPHA:90280
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid	OMIM:206400
Renal Agenesis	Renal insufficiency, Renal agenesis, Ventricular septal defect, Proteinuria, Unilateral renal age...	ORPHA:411709
Congenital Disorder Of Glycosylation, Type Iil	Hepatomegaly, Pancytopenia, Ventricular septal defect, Unilateral renal agenesis, Splenomegaly, C...	OMIM:614576
Glycogen Storage Disease Ixc	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, In...	OMIM:613027
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Hyponatremia, Decreased circulating cortisol level, Increased circulating androstenedione concent...	ORPHA:90791
Combined Immunodeficiency Due To Dock8 Deficiency	Recurrent respiratory infections, Recurrent bacterial skin infections, Pneumonia, Increased circu...	ORPHA:217390
Bare Lymphocyte Syndrome, Type I	Bronchiectasis, Skin ulcer, Bronchiolitis, Emphysema, Chronic sinusitis, Chronic otitis media, Re...	OMIM:604571
Gaisböck Syndrome	Diabetes mellitus, Angina pectoris, Hypertriglyceridemia, Myocardial infarction, Dyspnea, Splenom...	ORPHA:90041
Autosomal Recessive Primary Microcephaly	Vesicoureteral reflux, Unilateral renal agenesis	ORPHA:2512
Fixed Subaortic Stenosis	Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri...	ORPHA:3092
Classic Mycosis Fungoides	Hepatomegaly, Skin rash, Eczema, Splenomegaly, Erythema, Skin ulcer, Abnormal lymphocyte morpholo...	ORPHA:2584
Coach Syndrome 1	Hepatomegaly, Portal hypertension, Unilateral renal agenesis, Abnormal abdomen morphology, Spleno...	OMIM:216360
Nephronophthisis 16	Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Nephronophthisi...	OMIM:615382
Dracunculiasis	Recurrent cutaneous abscess formation, Skin rash, Skin ulcer, Arthritis	ORPHA:231
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Pancreatic fibrosis, Portal hypertension, Malformation of the hepatic ductal plate,...	OMIM:208540
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Elevated hepatic transaminase, Granulomatous cholangitis, Cholestasis, Ulcerative colitis, Abnorm...	ORPHA:562639
Burn-Mckeown Syndrome	Atrial septal defect, Ventricular septal defect, Renal hypoplasia, Unilateral renal agenesis	OMIM:608572
Intellectual Developmental Disorder, Autosomal Recessive 71	Micropenis, Ventricular septal defect, Unilateral renal agenesis	OMIM:618504
Coronary Arterial Fistula	Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Tachypnea, Abnormal left ventricula...	ORPHA:2041
Immunodeficiency, Common Variable, 12, With Autoimmunity	Recurrent sinopulmonary infections, Autoimmune hemolytic anemia, Atrophic gastritis, Recurrent sk...	OMIM:616576
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Ventricular septal defect, Unilateral renal agenesis, Renal hypoplasia, Abnormal heart morphology...	OMIM:618494
Cd8 Deficiency, Familial	Recurrent respiratory infections, Recurrent bacterial infections, Bronchiectasis, Recurrent viral...	OMIM:608957
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Lymphadenitis, Leukopenia, T lymphocytopenia, Neutropenia, Decreased circulating IgG level, Parti...	OMIM:618986
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos...	OMIM:608203
Meckel Syndrome, Type 3	Hepatomegaly, Bile duct proliferation, Hepatic fibrosis, Malformation of the hepatic ductal plate	OMIM:607361
Autosomal Erythropoietic Protoporphyria	Eczema, Microcytic anemia, Erythema, Decreased liver function, Cirrhosis, Cholelithiasis	ORPHA:79278
Trimethylaminuria	Trimethylaminuria, Splenomegaly, Recurrent pneumonia, Neutropenia, Anemia	OMIM:602079
Mastocytosis, Cutaneous	Cutaneous mastocytosis, Erythema, Telangiectasia macularis eruptiva perstans	OMIM:154800
Hypereosinophilic Syndrome, Idiopathic	Hepatomegaly, Eosinophilia, Splenomegaly, Endocardial fibrosis, Myeloproliferative disorder, Rest...	OMIM:607685
Indolent Systemic Mastocytosis	Hepatomegaly, Maculopapular exanthema, Skin rash, Splenomegaly, Increased proportion of CD25+ mas...	ORPHA:98848
Agammaglobulinemia 8A, Autosomal Dominant	Recurrent otitis media, Post-vaccination polio, Recurrent infections	OMIM:616941
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Skeletal muscle atrophy, Hepatomegaly, Ataxia, Elevated circulatin...	ORPHA:42
Nphp3-Related Meckel-Like Syndrome	Abnormality of the pancreas, Abnormal biliary tract morphology, Pulmonary hypoplasia, Abnormal li...	ORPHA:3032
Carnitine Deficiency, Systemic Primary	Respiratory distress, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration...	OMIM:212140
Syndromic Recessive X-Linked Ichthyosis	Renal insufficiency, Unilateral renal agenesis, Acute leukemia	ORPHA:281090
Reticuloendotheliosis, X-Linked	Hepatosplenomegaly, Lymphadenopathy	OMIM:312500
Diamond-Blackfan Anemia 11	Bicuspid aortic valve, Unilateral renal agenesis, Anemia of inadequate production, Bone marrow hy...	OMIM:614900
Leishmaniasis	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Spleno...	ORPHA:507
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Familial Hypoaldosteronism	Hyponatremia, Orthostatic hypotension, Hyperkalemia, Hypovolemia, Adrenal insufficiency, Increase...	ORPHA:427
Beta-Thalassemia Intermedia	Extramedullary hematopoiesis, Abnormality of the liver, Pallor, Elevated hepatic iron concentrati...	ORPHA:231222
Muscular Dystrophy, Duchenne Type	Waddling gait, Abnormal EKG, Hypoventilation, Calf muscle pseudohypertrophy, Elevated circulating...	OMIM:310200
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomega...	ORPHA:567983
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Unilateral renal agen...	ORPHA:363444
Polyarteritis Nodosa	Pericarditis, Raynaud phenomenon, Abnormal lung morphology, Erythema, Skin ulcer, Cardiomyopathy,...	ORPHA:767
Meckel Syndrome, Type 6	Absent gallbladder, Bilobed right lung, Cystic liver disease, Hepatic fibrosis, Pulmonary hypopla...	OMIM:612284
Isolated Biliary Atresia	Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Splenomegaly, Jaundice, Cholest...	ORPHA:30391
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Renal agenesis, Unilateral renal agenesis, Ectopic kidney	OMIM:601076
Gitelman Syndrome	Prolonged QT interval, Ataxia, Hypomagnesemia, Rhabdomyolysis, Ventricular tachycardia, Hypokalem...	OMIM:263800
East Syndrome	Ataxia, Inability to walk, Hypokalemia, Hyperaldosteronism, Increased circulating renin level, Di...	ORPHA:199343
Beaulieu-Boycott-Innes Syndrome	Recurrent urinary tract infections, Ventricular septal defect, Unilateral renal agenesis, Horsesh...	OMIM:613680
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Thrombocytopenia, Abn...	ORPHA:47
Aa Amyloidosis	Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Nephrotic syndrome,...	ORPHA:85445
Protoporphyria, Erythropoietic, 1	Hemolytic anemia, Eczema, Erythema, Cholelithiasis, Hepatic failure	OMIM:177000
Radial-Renal Syndrome	Unilateral renal agenesis, Ectopic kidney	OMIM:179280
Emanuel Syndrome	Recurrent respiratory infections, Recurrent urinary tract infections, Truncus arteriosus, Ventric...	OMIM:609029
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Respiratory tract inf...	ORPHA:444463
Lethal Congenital Contracture Syndrome 2	Skeletal muscle atrophy, Ventricular septal defect, Akinesia, Dilated cardiomyopathy, Respiratory...	OMIM:607598
Hereditary Spherocytosis	Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Maculo...	ORPHA:822
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Hypoplasia of penis, Hypospadias, Renal hypoplasia/aplasia, Splenomegaly, Abnormality of the uret...	ORPHA:1046
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Stage 5 chronic kidney disease, Chronic tubulo...	OMIM:602088
Dubin-Johnson Syndrome	Jaundice, Biliary tract abnormality	OMIM:237500
Congenital Bile Acid Synthesis Defect Type 1	Elevated hepatic transaminase, Hepatomegaly, Gastrointestinal hemorrhage, Splenomegaly, Jaundice,...	ORPHA:79301
Inverted Duplicated Chromosome 15 Syndrome	Tetralogy of Fallot, Ventricular septal defect, Unilateral renal agenesis	ORPHA:3306
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Hepatomegaly, Splenomegaly, Anorexia, Lymphadenopathy	ORPHA:86893
Acute Adrenal Insufficiency	Hyponatremia, Orthostatic hypotension, Decreased circulating cortisol level, Hypercalcemia, Myoca...	ORPHA:95409
Renal Hypodysplasia/Aplasia 3	Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r...	OMIM:617805
Prolidase Deficiency	Hepatomegaly, Petechiae, Elevated circulating aspartate aminotransferase concentration, Eczema, S...	OMIM:170100
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated hepatic transaminase, Hepatomegaly, Increased circulating lactate dehydrogenase concentr...	OMIM:600649
Buerger Disease	Vasculitis, Skin ulcer	ORPHA:36258
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Kerion Celsi	Lymphadenopathy	ORPHA:499
Mirizzi Syndrome	Elevated hepatic transaminase, Tachycardia, Pancreatitis, Jaundice, Cholesterol gallstones, Chole...	ORPHA:521219
Peripartum Cardiomyopathy	Crackles, Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnorm...	ORPHA:563
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Ataxia, Hypertension, Hypokalemia, Hyperaldosteronism, Increased circulating renin level, Dysdiad...	OMIM:612780
Pyruvate Kinase Deficiency Of Red Cells	Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina...	OMIM:266200
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Immunodeficiency 75 With Lymphoproliferation	Hepatosplenomegaly, Lymphadenopathy, Follicular hyperplasia	OMIM:619126
Cryoglobulinemic Vasculitis	Gastrointestinal hemorrhage, Viral hepatitis, Hepatomegaly, Splenomegaly, Vasculitis, Skin ulcer,...	ORPHA:91138
Ehlers-Danlos Syndrome, Classic-Like	Vesicoureteral reflux, Quadricuspid aortic valve, Unilateral renal agenesis, Mitral valve prolapse	OMIM:606408
Papa Syndrome	Increased inflammatory response, Myositis, Acne, Pustule, Skin ulcer, Arthritis, Increased circul...	ORPHA:69126
Encephalopathy Due To Prosaposin Deficiency	Splenomegaly, Recurrent respiratory infections, Hepatomegaly	ORPHA:139406
Congenitally Uncorrected Transposition Of The Great Arteries	Cardiac shunt, Maternal diabetes, Cardiomegaly, Tachypnea, Dextrotransposition of the great arter...	ORPHA:860
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Neoplasm of the adrenal gland, ...	ORPHA:231625
Familial Atrial Myxoma	Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Jaundice, Pulmonic valve myxoma,...	ORPHA:615
Braddock Syndrome	Pulmonary fibrosis, Unilateral renal agenesis	ORPHA:52047
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay	Renal insufficiency, Renal agenesis, Unilateral renal agenesis, Ectopic kidney, Absence of renal ...	OMIM:617641
Immunodeficiency 104	Hepatomegaly, Pneumonia, Splenomegaly, Lymphadenopathy, T lymphocytopenia	OMIM:608971
Hyperaldosteronism, Familial, Type I	Adrenal hyperplasia, Adrenogenital syndrome, Hypertension, Hyperaldosteronism, Decreased circulat...	OMIM:103900
Limited Cutaneous Systemic Sclerosis	Telangiectasia of the skin, Skin ulcer, Pulmonary fibrosis, Pulmonary arterial hypertension, Muco...	ORPHA:220402
Cardiomyopathy, Familial Hypertrophic, 4	Respiratory distress, First degree atrioventricular block, Cardiomegaly, Atrioventricular block, ...	OMIM:115197
Focal Segmental Glomerulosclerosis 7	Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis...	OMIM:616002
Non-Epidermolytic Palmoplantar Keratoderma	Erythema, Skin ulcer	ORPHA:2337
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation	Unilateral renal agenesis	OMIM:206750
Granulomatous Slack Skin	Nephrocalcinosis, Acute kidney injury, Abnormal lymph node morphology	ORPHA:33111
Addison Disease	Hypoparathyroidism, Hyponatremia, Orthostatic hypotension, Decreased circulating cortisol level, ...	ORPHA:85138
Danon Disease	Wolff-Parkinson-White syndrome, Elevated circulating creatine kinase concentration, Cardiomegaly,...	OMIM:300257
Cirrhotic Cardiomyopathy	Increased circulating NT-proBNP concentration, Cardiomegaly, Global systolic dysfunction, Hepatom...	ORPHA:57777
Apparent Mineralocorticoid Excess	Hypertension, Hypokalemia, Abnormality of circulating cortisol level, Left ventricular hypertroph...	ORPHA:320
Meckel Syndrome, Type 7	Portal hypertension, Pancreatic cysts, Biliary cirrhosis, Cholestasis, Hepatosplenomegaly, Bile d...	OMIM:267010
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia	ORPHA:46532
Meckel Syndrome, Type 8	Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys	OMIM:613885
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Hyperalaninemia, Tricuspid regurgitation, Cardiomegaly, Hyperammonemia, ...	OMIM:619051
Fusariosis	Fasciitis, Sinusitis, Myositis, Abnormality of the spleen, Abnormality of the liver, Neutropenia,...	ORPHA:228119
Takayasu Arteritis	Increased inflammatory response, Hypertensive crisis, Myocardial infarction, Vasculitis, Skin ulc...	ORPHA:3287
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Respiratory distress, Respiratory failure requiring assisted ventilation, Abnormal circulating en...	ORPHA:308552
Pyoderma Gangrenosum	Myositis, Pustule, Skin ulcer, Inflammation of the large intestine, Increased circulating antibod...	ORPHA:48104
Anemia, Congenital Dyserythropoietic, Type Ii	Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis	OMIM:224100
Uruguay Faciocardiomusculoskeletal Syndrome	Elevated hepatic transaminase, Ventricular hypertrophy, Waddling gait, Left ventricular hypertrop...	OMIM:300280
Hemoglobin H Disease	Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H...	ORPHA:731
Tyrosinemia Type 1	Splenomegaly, Hepatomegaly, Generalized aminoaciduria, Hepatocellular carcinoma	ORPHA:882
Methylmalonic Acidemia With Homocystinuria Type Cblf	Unilateral renal agenesis, Megaloblastic anemia, Methylmalonic aciduria, Abnormal heart morpholog...	ORPHA:79284
Amyloidosis, Familial Visceral	Hepatomegaly, Proteinuria, Splenomegaly, Cholestasis, Hematuria, Nephrotic syndrome, Nephropathy	OMIM:105200
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Hyponatremia, Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, El...	ORPHA:289548
Pgm3-Cdg	Abnormal CD4:CD8 ratio, Leukopenia, Increased circulating IgG level, T lymphocytopenia, Neutropen...	ORPHA:443811
Hypocalcemia, Autosomal Dominant 1	Decreased circulating parathyroid hormone level, Hypokalemia, Hyperphosphatemia, Increased circul...	OMIM:601198
Emanuel Syndrome	Recurrent respiratory infections, Truncus arteriosus, Ventricular septal defect, Unilateral renal...	ORPHA:96170
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc...	OMIM:194380
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hyponatremia, Reduced blood urea nitrogen, Elevated systolic blood pressure, Decreased serum crea...	OMIM:300539
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Hyponatremia, Decreased circulating cortisol level, Adrenal hypoplasia, Elevated circulating lute...	ORPHA:168558
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Absence of renal corticomedullary differentiation, Splenomegal...	OMIM:263200
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Decreased circulating cortisol level, Premature pubarche, Acne, Premature thelarche, Isosexual pr...	ORPHA:90795
Immunodeficiency 48	Recurrent respiratory infections, Hepatomegaly, Pneumonia, Absence of CD8-positive T cells, Splen...	OMIM:269840
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy	Hypokalemia, Increased serum prostaglandin E2, Increased circulating renin level, Abnormal magnes...	OMIM:241150
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Waddling gait, Elevated circulating creatine kinase concentration, Reduced forced vital capacity,...	OMIM:607155
Neutrophilic Dermatosis, Acute Febrile	Dilated cardiomyopathy, Erythema, Pyoderma gangrenosum, Panniculitis, Cystic acne, Small vessel v...	OMIM:608068
Aceruloplasminemia	Abnormal circulating enzyme concentration or activity, Torticollis, Decreased circulating cerulop...	ORPHA:48818
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion	OMIM:183350
Adenocarcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99976
Protoporphyria, Erythropoietic, X-Linked	Elevated hepatic transaminase, Iron deficiency anemia, Cholelithiasis	OMIM:300752
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Abnormal fear-induced behavior, Pseudobulbar paralysis, Aggressive behavior	ORPHA:208441
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ...	ORPHA:846
Gcgr-Related Hyperglucagonemia	Neoplasm of the pancreas, Necrolytic migratory erythema, Stomatitis, Cholelithiasis, Abnormal bil...	ORPHA:438274
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Hyponatremia, Hyperaldosteronism, Hyperkalemia, Increased circulating renin level	OMIM:620126
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia	Micropenis, Unilateral renal agenesis	OMIM:244200
Bladder Exstrophy And Epispadias Complex	Hydroureter, Unilateral renal agenesis, Epispadias, Horseshoe kidney, Bladder exstrophy	OMIM:600057
Proliferating Trichilemmal Cyst	Skin ulcer	ORPHA:492
Ethanolaminosis	Cardiomegaly	OMIM:227150
Chopra-Amiel-Gordon Syndrome	Unilateral renal agenesis	OMIM:619504
Cardiomyopathy, Familial Hypertrophic, 27	Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di...	OMIM:618052
Complete Atrioventricular Septal Defect	Crackles, Cardiomegaly, Tachypnea, Atrioventricular block, Primum atrial septal defect, Displacem...	ORPHA:1329
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Recurrent respiratory infections, Recurrent sinopulmonary infections, Splenomegaly, Bronchiectasi...	OMIM:615513
Benign Recurrent Intrahepatic Cholestasis	Elevated hepatic transaminase, Jaundice, Acholic stools, Cholestatic liver disease, Cirrhosis, He...	ORPHA:65682
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Unilateral renal agenesis, Secundum atrial septal defect, Micropenis, Vesicoureteral reflux, Leuk...	OMIM:619951
Primary Unilateral Adrenal Hyperplasia	Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Hypertensi...	ORPHA:231580
Glycogen Storage Disease Ii	Wolff-Parkinson-White syndrome, Right axis deviation, Increased circulating NT-proBNP concentrati...	OMIM:232300
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Nephroblastoma, Enlarged kidney	OMIM:618272
Bartter Syndrome, Type 3	Hyperchloriduria, Hyperactive renin-angiotensin system, Hyperaldosteronism, Increased circulating...	OMIM:607364
Dermatofibrosarcoma Protuberans	Erythema, Skin ulcer	ORPHA:31112
Ectopic Aldosterone-Producing Tumor	Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Hypertension, Hypokalemia, Adre...	ORPHA:231632
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy	Hypertension, Decreased circulating aldosterone level, Decreased circulating renin level	OMIM:605115
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Splenomegaly, Intrah...	OMIM:619849
Williams-Beuren Region Duplication Syndrome	Hydronephrosis, Unilateral renal agenesis	OMIM:609757
Acute Radiation Syndrome	Inflammatory abnormality of the skin, Skin ulcer, Telangiectasia, Interstitial pneumonitis, Granu...	ORPHA:454831
Immunodeficiency 108 With Autoinflammation	Hyposegmentation of neutrophil nuclei, Recurrent aphthous stomatitis, Epistaxis, Impaired neutrop...	OMIM:260570
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Intrahepatic bile duct dilatation, H...	OMIM:301068
Reynolds Syndrome	Hepatomegaly, Telangiectasia of the skin, Skin rash, Jaundice, Skin ulcer, Arthritis, Keratoconju...	ORPHA:779
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Lymphadenopathy, Neph...	ORPHA:100024
Apparent Mineralocorticoid Excess	Hypertension, Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin l...	OMIM:218030
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Hepatomegaly, Spontaneous, recurrent epistaxis, Recurr...	OMIM:214500
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Recurrent sinopulmonary infections, Aplastic anemia, Pneumonia, Eosinophi...	ORPHA:486
Galactosemia Iii	Hepatomegaly, Splenomegaly, Jaundice, Aminoaciduria, Galactosuria	OMIM:230350
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly...	OMIM:615559
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ...	OMIM:613092
Hypokalemic Tubulopathy And Deafness	Hyperaldosteronism, Increased circulating renin level	OMIM:619406
Renal Cysts And Diabetes Syndrome	Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro...	OMIM:137920
Squamous Cell Carcinoma Of The Anal Canal	Neoplasm of the lung, Neoplasm of the liver, Intestinal bleeding, Skin ulcer	ORPHA:424019
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Recurrent respiratory infections, Polycystic liver disease, Pancreatic fibrosis, Pancreatic cysts...	OMIM:208500
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Hypoventilation, Myositis, Absent muscle fiber merosin, Facial palsy, Inability to walk, Flexion ...	ORPHA:258
Cystic Echinococcosis	Abnormal peritoneum morphology, Multiple pulmonary cysts, Hepatomegaly, Pulmonary cyst, Elevated ...	ORPHA:400
Hemochromatosis, Type 1	Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Ca...	OMIM:235200
Glycogen Storage Disease Due To Acid Maltase Deficiency	Respiratory distress, Elevated circulating creatine kinase concentration, Cardiomegaly, Flexion c...	ORPHA:365
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology, Papillary renal cell carci...	ORPHA:97290
Laryngeal Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy, Anorexia, Oral-pharyngeal dysphagia	ORPHA:100083
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N...	OMIM:235700
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, I...	ORPHA:3077
Liddle Syndrome 2	Hypertension, Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin l...	OMIM:618114
Liddle Syndrome 3	Hypertension, Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin l...	OMIM:618126
Microscopic Polyangiitis	Gastrointestinal hemorrhage, Episcleritis, Pericarditis, Sinusitis, Increased inflammatory respon...	ORPHA:727
Fraser Syndrome 2	Renal agenesis, Unilateral renal agenesis, Renal hypoplasia, Ureteral agenesis, Aplasia of the bl...	OMIM:617666
Combined Oxidative Phosphorylation Deficiency 8	Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fraction, Increased var...	OMIM:614096
Crigler-Najjar Syndrome Type 1	Abnormality of the liver, Biliary tract abnormality, Prolonged neonatal jaundice	ORPHA:79234
Liddle Syndrome 1	Hypertension, Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin l...	OMIM:177200
Neonatal Severe Primary Hyperparathyroidism	Splenomegaly, Hepatomegaly, Aminoaciduria	ORPHA:417
Alagille Syndrome 2	Renal insufficiency, Proteinuria, Renal hypoplasia, Cholestasis, Renal cyst, Hematuria, Renal tub...	OMIM:610205
Galactose Epimerase Deficiency	Splenomegaly, Hepatomegaly, Jaundice, Aminoaciduria	ORPHA:79238
Attrv122I Amyloidosis	Abnormal EKG, Increased circulating NT-proBNP concentration, Angina pectoris, Abnormal atrioventr...	ORPHA:85451
Timothy Syndrome	Prolonged QT interval, Ventricular septal defect, Pneumonia, Cardiomegaly, Hypothyroidism, Patent...	OMIM:601005
Aggressive Systemic Mastocytosis	Gastrointestinal hemorrhage, Pancytopenia, Maculopapular exanthema, Portal hypertension, Hyperspl...	ORPHA:98850
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Proteinuria, Inability to walk, Splenomegaly, Nephrotic syndrome, Focal segmental g...	OMIM:617303
Congenital Anomalies Of Kidney And Urinary Tract 3	Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr...	OMIM:618270
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis	OMIM:118830
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Decreased circulating cortisol level, Male hypogonadism, Decreased circulating renin level, Eleva...	ORPHA:90793
Short Stature, Microcephaly, And Endocrine Dysfunction	Unilateral renal agenesis, Ectopic kidney, Dilated cardiomyopathy, Renal hypoplasia, Micropenis, ...	OMIM:616541
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Panniculitis, Hemophagocytosis, Skin ulcer, Hepatosplenomegaly	ORPHA:86884
Adams-Oliver Syndrome 6	Ventricular septal defect, Portal hypertension, Splenomegaly, Renal hypoplasia, Hepatic fibrosis,...	OMIM:616589
Perry Syndrome	Hypoventilation, Central hypoventilation, Akinesia, Frontotemporal dementia, Respiratory insuffic...	OMIM:168605
Hogue-Janssen Syndrome 2	Unilateral renal agenesis	OMIM:616362
Niemann-Pick Disease, Type B	Recurrent respiratory infections, Hepatomegaly, Bone-marrow foam cells, Thrombocytopenia, Splenom...	OMIM:607616
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia	Foot osteomyelitis, Acral ulceration, Skin ulcer	ORPHA:139578
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase...	OMIM:617514
Isolated Right Ventricular Hypoplasia	Tricuspid regurgitation, Abnormal atrioventricular conduction, Right ventricular failure, Cardiom...	ORPHA:439
Acquired Purpura Fulminans	Shock, Skin rash, Pyoderma gangrenosum, Intracranial hemorrhage, Macular purpura, Hepatic failure...	ORPHA:49566
Pseudohypoaldosteronism, Type Iic	Hyperkalemia, Hypertension, Pseudohypoaldosteronism, Hyperchloremia, Decreased circulating renin ...	OMIM:614492
Shashi-Pena Syndrome	Atrial septal defect, Unilateral renal agenesis	OMIM:617190
Sweet Syndrome	Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Myositis, Neutrophilia, Acn...	ORPHA:3243
Nephronophthisis 13	Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Pancrea...	OMIM:614377
Congenital Factor Xii Deficiency	Penetrating foot ulcers	ORPHA:330
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis	Cutaneous mastocytosis	ORPHA:280794
Chédiak-Higashi Syndrome	Vacuolated lymphocytes, Periodontitis, Neutropenia, Abnormal natural killer cell morphology, Hepa...	ORPHA:167
Vocal Cord And Pharyngeal Distal Myopathy	Abnormal morphology of musculature of pharynx, Respiratory insufficiency due to muscle weakness, ...	ORPHA:600
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Hepatomegaly	OMIM:619175
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Splenomegaly, Recurrent upper respiratory tract infections, Abnormal pulmonary interstitial morph...	OMIM:613101
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased proportion of CD4-positive T cells, Recurrent respiratory infections, Autoimmune thromb...	OMIM:300853
Mast Cell Sarcoma	Mastocytosis, Splenomegaly, Hepatomegaly	ORPHA:66661
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Anisocytosis, Hepatic fibrosis, Pallor, Hypoparathyroidism, High-ou...	ORPHA:231226
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy	OMIM:618852
Alpha-1-Antitrypsin Deficiency	Hepatocellular carcinoma, Splenomegaly, Panacinar emphysema, Bronchiectasis, Cirrhosis, Chronic b...	OMIM:613490
Takenouchi-Kosaki Syndrome	Hypospadias, Increased mean platelet volume, Unilateral renal agenesis, Abnormal cardiac septum m...	OMIM:616737
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Exercise-induced rhabdomyolysis, Hepatomegaly, Necrotizing enterocolitis, Elevated circulating cr...	OMIM:201475
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Aplasia/Hypoplasia of the lungs, Hepatomegaly, Abnormality of the urinary system, Splenomegaly	ORPHA:2204
Immunodeficiency 76	Splenomegaly, Recurrent pneumonia, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphop...	OMIM:619164
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Stage 5 chronic ...	ORPHA:730
Leprechaunism	Skeletal muscle atrophy, Hepatomegaly, Enlarged ovaries, Postnatal growth retardation, Hyperinsul...	ORPHA:508
Combined Immunodeficiency-Enteropathy Spectrum	Autoimmune hemolytic anemia, Psoriasiform dermatitis, Hepatitis, Rectal abscess, Hypoplasia of th...	ORPHA:436252
Wiskott-Aldrich Syndrome	Abnormal eosinophil morphology, Sinusitis, Microcytic anemia, Intracranial hemorrhage, Inflammati...	ORPHA:906
Cholestasis, Progressive Familial Intrahepatic, 12	Hepatomegaly, Proteinuria, Splenomegaly, Jaundice, Cholestasis	OMIM:620010
Renal-Hepatic-Pancreatic Dysplasia 2	Asplenia, Hepatomegaly, Cystic renal dysplasia, Enlarged kidney	OMIM:615415
Kaposiform Lymphangiomatosis	Splenomegaly, Abnormality of the lymphatic system, Hepatosplenomegaly, Abnormal lymphatic vessel ...	ORPHA:464329
Bare Lymphocyte Syndrome, Type Ii	Viral hepatitis, Cholangitis, Recurrent upper respiratory tract infections, Cutaneous anergy, Bil...	OMIM:209920
Congenital Disorder Of Glycosylation, Type It	Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Decreased serum insulin-like growth fac...	OMIM:614921
Branchiootorenal Syndrome 1	Renal malrotation, Unilateral renal agenesis, Renal steatosis, Polycystic kidney dysplasia, Vesic...	OMIM:113650
Meckel Syndrome, Type 5	Bile duct proliferation	OMIM:611561
Classic Hodgkin Lymphoma	Hepatomegaly, Ataxia, Anorexia, Splenomegaly, Lymphadenopathy, Bone marrow hypocellularity	ORPHA:391
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Muscular ventricular septal defect, Renal agenesis, Unilateral renal agenesis	OMIM:619227
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery...	OMIM:603902
Hyperaldosteronism, Familial, Type Iii	Adrenal hyperplasia, Hypertension, Hypokalemia, Hyperaldosteronism, Decreased circulating renin l...	OMIM:613677
Leukocyte Adhesion Deficiency	Sinusitis, Severe periodontitis, Conjunctivitis, Otitis media, Vaginitis, Polycythemia, Respirato...	ORPHA:2968
Bifid Nose With Or Without Anorectal And Renal Anomalies	Renal agenesis, Ebstein anomaly of the tricuspid valve, Unilateral renal agenesis	OMIM:608980
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Leukopenia, Hashimoto thyroiditis, Hepatomegaly, Portal hypertension, Raynaud phenomenon, Leukocy...	OMIM:615688
Mayer-Rokitansky-Küster-Hauser Syndrome	Horseshoe kidney, Abnormality of the kidney, Unilateral renal agenesis, Ectopic kidney	ORPHA:3109
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro...	OMIM:133180
Oculopharyngodistal Myopathy 1	Respiratory distress, Paroxysmal atrial fibrillation, Autophagic vacuoles, Facial palsy, Hypercap...	OMIM:164310
Klippel-Feil Syndrome 1, Autosomal Dominant	Abnormality of the kidney, Unilateral renal agenesis	OMIM:118100
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Hepatomegaly, Lymphocytosis	OMIM:606445
Atrial Septal Defect, Sinus Venosus Type	Automatic atrial tachycardia, First degree atrioventricular block, Right ventricular dilatation, ...	ORPHA:99105
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Recurrent respiratory infections, Hepatomegaly, Glomerulonephritis, Decreased proportion of margi...	OMIM:619375
Pseudo-Torch Syndrome 3	Apnea, Cerebral hemorrhage, Cardiomegaly, Increased circulating ferritin concentration, Lymphaden...	OMIM:618886
Granulomatosis With Polyangiitis	Episcleritis, Sinusitis, Diffuse alveolar hemorrhage, Keratitis, Localized pulmonary hemorrhage, ...	OMIM:608710
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Renal dysplasia, Hepatomegaly, Ureteral duplication, Renal insufficiency, Long-chain dicarboxylic...	OMIM:608836
Refsum Disease, Classic	Decreased phytanoyl-CoA hydroxylase activity, Ataxia, Cardiomegaly, Congestive heart failure, Ele...	OMIM:266500
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Elevated hepatic transaminase, Hyperalaninemia, Hepatomegaly, Cardiomegaly, Hyperprolinemia, Pulm...	OMIM:619064
Joubert Syndrome 6	Bile duct proliferation, Hepatic fibrosis	OMIM:610688
Kallmann Syndrome With Spastic Paraplegia	Micropenis, Unilateral renal agenesis	OMIM:308750
Ras-Associated Autoimmune Leukoproliferative Disorder	Recurrent respiratory infections, Pancytopenia, Hemolytic anemia, Hepatomegaly, Autoimmune thromb...	OMIM:614470
Diarrhea 1, Secretory Chloride, Congenital	Hyponatremia, Hypochloremia, Hypokalemia, Hyperactive renin-angiotensin system, Hyperaldosteronis...	OMIM:214700
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Renal dysplasia, Renal insufficiency, Unilateral renal agenesis, Abnormal heart morphology, Polyc...	ORPHA:2237
Cholestasis-Lymphedema Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Biliary t...	ORPHA:1414
Paternal Uniparental Disomy Of Chromosome 1	Membranoproliferative glomerulonephritis, Proteinuria, Macroscopic hematuria, Polyphagia, Enlarge...	ORPHA:251004
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Tachycardia, Eosinophilia,...	ORPHA:98849
Hyperbilirubinemia, Shunt, Primary	Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid...	OMIM:237800
Congenital Anomalies Of Kidney And Urinary Tract 2	Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete...	OMIM:143400
Immunodeficiency 16	Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia	OMIM:615593
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia	ORPHA:231393
Beta-Thalassemia Major	Extramedullary hematopoiesis, Hepatic fibrosis, Pallor, Hypoparathyroidism, Hepatomegaly, Anemia ...	ORPHA:231214
Combined Oxidative Phosphorylation Deficiency 37	Elevated hepatic transaminase, Bile duct proliferation, Macrovesicular hepatic steatosis, Decreas...	OMIM:618329
Spinocerebellar Ataxia Type 27	Akinesia, Limb ataxia, Gait ataxia, Gait disturbance, Difficulty walking, Truncal ataxia, Memory ...	ORPHA:98764
Free Sialic Acid Storage Disease	Splenomegaly, Recurrent respiratory infections, Skin ulcer, Hepatomegaly	ORPHA:834
Hemochromatosis, Type 2B	Hepatomegaly, Splenomegaly, Cardiomyopathy, Hepatic fibrosis, Cirrhosis, Anemia	OMIM:613313
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Enlarged polycystic ovaries, Enlarged kidney	ORPHA:90301
Acrogeria	Excessive wrinkled skin, Telangiectasia of the skin, Skin ulcer	ORPHA:2500
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Bronchiectasis, Recurrent sinusitis, Abs...	OMIM:620282
Bartter Syndrome, Type 1, Antenatal	Hyperchloriduria, Hyperparathyroidism, Increased serum prostaglandin E2, Hypercalcemia, Low-to-no...	OMIM:601678
Hyperbiliverdinemia	Cholelithiasis, Decreased liver function, Cholestasis	OMIM:614156
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Pigment gallstones, Osteomyelitis, Microcytic anemia, Abnormal...	ORPHA:232
Intussusception	Intussusception	OMIM:147710
Familial Papillary Or Follicular Thyroid Carcinoma	Papillary renal cell carcinoma, Chronic noninfectious lymphadenopathy, Abnormal lymph node morpho...	ORPHA:319487
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Glomerulonephritis, Crackles, Diffuse alveolar hemorrhage, Cardiomegaly, Dyspnea, H...	ORPHA:99931
Sarcoidosis, Susceptibility To, 2	Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly, Pneumothorax, Bronchiectasis, Abnormal p...	OMIM:612387
Rhabdoid Tumor	Hematuria, Irritability, Renal neoplasm, Lymphadenopathy	ORPHA:69077
Bartter Syndrome Type 4	Hyponatremia, Hypochloremia, Hypertension, Hyperactive renin-angiotensin system, Hyperaldosteroni...	ORPHA:89938
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome	Freezing of gait, Akinesia, Unsteady gait, Dementia, Falls, Gait imbalance, Loss of ambulation, D...	ORPHA:240094
Pleural Mesothelioma	Hepatomegaly, Lymphadenopathy, Dysphagia	ORPHA:50251
Carnitine Palmitoyltransferase I Deficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc...	OMIM:255120
Liver Disease, Severe Congenital	Chronic gastritis, Biliary hyperplasia, Abnormal left ventricular function, Leukopenia, Lymphocyt...	OMIM:619991
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Recurrent respiratory infections, Hepatomegaly, Recurrent urinary tract infections, Ventricular s...	OMIM:620210
Primary Sjögren Syndrome	Normocytic anemia, Myositis, Chronic active hepatitis, Bronchitis, Leukopenia, Tubulointerstitial...	ORPHA:289390
Synaptic Congenital Myasthenic Syndromes	Respiratory distress, Hypoventilation, Neonatal respiratory distress, Skeletal muscle atrophy, Sc...	ORPHA:98915
Autosomal Dominant Hyper-Ige Syndrome	Recurrent respiratory infections, Osteomyelitis, Skin rash, Eosinophilia, Eczema, Atelectasis, In...	ORPHA:2314
Diaphanospondylodysostosis	Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Cystic renal dysplasia, Enlarged kidney	OMIM:608022
Meckel Syndrome, Type 2	Bile duct proliferation	OMIM:603194
Follicular Lymphoma	Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Pleur...	ORPHA:545
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Recurrent respiratory infections, Autoimmune hemolytic anemia, Hepatomegaly, Recurrent urinary tr...	OMIM:618495
Arterial Calcification, Generalized, Of Infancy, 2	Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Hypertens...	OMIM:614473
Immunodeficiency, Common Variable, 1	Hepatomegaly, Pneumonia, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Neutropenia in presen...	OMIM:607594
Cholestasis, Progressive Familial Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Epistaxis, Splenomegaly, Jaundice,...	OMIM:211600
Absence Of The Pulmonary Artery	Cardiomegaly, Nonproductive cough, Atrial septal defect, Patent foramen ovale, Abnormal EKG, Pate...	ORPHA:980
Bartter Syndrome, Type 5, Antenatal, Transient	Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia	OMIM:300971
Neuropathy, Hereditary Sensory, Type Iic	Acral ulceration	OMIM:614213
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Splenomegaly, Hepatomegaly, Fetal ascites	OMIM:619462
Juvenile Dermatomyositis	Gastrointestinal hemorrhage, Bundle branch block, Pericarditis, Myositis, Angina pectoris, Telang...	ORPHA:93672
Cranioectodermal Dysplasia 2	Elevated hepatic transaminase, Hepatomegaly, Cholangitis, Splenomegaly, Recurrent pneumonia, Bili...	OMIM:613610
Hurler-Scheie Syndrome	Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Splenomegaly, Cardiomy...	ORPHA:93476
Hyperparathyroidism, Transient Neonatal	Unilateral renal agenesis, Enlarged kidney, Splenic cyst	OMIM:618188
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Combined Oxidative Phosphorylation Deficiency 10	Cardiomegaly, Pericardial effusion, Hyperammonemia, Hypertrophic cardiomyopathy, Bradycardia, Hyp...	OMIM:614702
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Unilateral renal agenesis	ORPHA:1064
Neurooculorenal Syndrome	Hypoplasia of the bladder, Dextrocardia, Unilateral renal agenesis, Stage 2 chronic kidney diseas...	OMIM:620305
Immunodeficiency, Common Variable, 2	Hepatomegaly, Follicular hyperplasia, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Lymphade...	OMIM:240500
Smith-Lemli-Opitz Syndrome	Ureteropelvic junction obstruction, Hepatomegaly, Duplicated collecting system, Ventricular septa...	OMIM:270400
Simple Cryoglobulinemia	Gastrointestinal hemorrhage, Viral hepatitis, Pericarditis, Purpura, Membranoproliferative glomer...	ORPHA:91139
Cholestasis, Benign Recurrent Intrahepatic, 2	Hepatomegaly, Jaundice, Intrahepatic cholestasis, Cholelithiasis	OMIM:605479
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Renal insufficiency, Splenomegaly, Anemia, Cardiomyopathy, Neutropenia, Pancreatiti...	ORPHA:79312
Congenital Tracheomalacia	Apnea, Cardiomegaly, Decreased peak expiratory flow, Cough, Atrial septal defect, Emphysema, Sing...	ORPHA:95430
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Micropenis, Unilateral renal agenesis	OMIM:308700
Proximal Spinal Muscular Atrophy	Skeletal muscle atrophy, Multiple joint contractures, Quadriceps muscle weakness, Flexion contrac...	ORPHA:70
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis	OMIM:182900
Lymphoid Interstitial Pneumonia	Mediastinal lymphadenopathy, Enlarged kidney, Hepatomegaly	ORPHA:79128
Cockayne Syndrome Type 3	Hepatomegaly, Renal insufficiency, Neurogenic bladder, Hydroureter, Unilateral renal agenesis, Sp...	ORPHA:90324
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Hypospadias, Increased mean platelet volume, Unilateral renal agenesis, Abnormality of the lympha...	ORPHA:487796
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Lymphadenopathy	OMIM:617772
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Abnormal EKG, Scapular winging, Proximal muscle weakness in upper limbs, Elevated circulating cre...	ORPHA:268
Meckel Syndrome, Type 4	Bile duct proliferation	OMIM:611134
Primary Sclerosing Cholangitis	Acute hepatic failure, Abnormal eosinophil morphology, Spider hemangioma, Uveitis, Hepatic fibros...	ORPHA:171
Kimura Disease	Lymphadenopathy, Follicular hyperplasia	ORPHA:482
Gaucher Disease, Perinatal Lethal	Respiratory distress, Hepatomegaly, Apnea, Akinesia, Cardiomegaly, Progressive neurologic deterio...	OMIM:608013
Immunodeficiency 27A	Anorexia, Splenomegaly, Enlarged mesenteric lymph node, Lymphadenopathy, Hepatosplenomegaly	OMIM:209950
Congenital Tricuspid Valve Dysplasia	Respiratory failure requiring assisted ventilation, Hepatomegaly, Tricuspid regurgitation, Cardio...	ORPHA:555874
Symptomatic Form Of Hfe-Related Hemochromatosis	Decreased serum testosterone concentration, Decreased muscle mass, Diabetes mellitus, Hypogonadot...	ORPHA:465508
Bartter Syndrome, Type 2, Antenatal	Hyperchloriduria, Increased serum prostaglandin E2, Low-to-normal blood pressure, Hypochloremia, ...	OMIM:241200
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency	Purpura, Skin ulcer, Pulmonary embolism	ORPHA:743
Catastrophic Antiphospholipid Syndrome	Angina pectoris, Transient ischemic attack, Myocardial infarction, Pulmonary embolism, Arterial o...	ORPHA:464343
Serkal Syndrome	Abnormal penis morphology, Hypoplasia of the bladder, Ventricular septal defect, Renal agenesis, ...	ORPHA:139466
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome	Osteomyelitis, Skin ulcer	ORPHA:2218
Gallbladder Disease 4	Cholelithiasis	OMIM:611465
Nager Syndrome	Unilateral renal agenesis	ORPHA:245
Lymphoproliferative Syndrome 3	Hepatosplenomegaly, Lymphadenopathy	OMIM:618261
Attrv30M Amyloidosis	Cardiomyopathy, Arrhythmia, Atrioventricular block, Cardiomegaly	ORPHA:85447
Congenital Disorder Of Glycosylation, Type Im	Inflammatory abnormality of the skin, Increased circulating free fatty acid level, Dilated cardio...	OMIM:610768
Glycogen Storage Disease Ib	Hepatomegaly, Proteinuria, Splenomegaly, Nephrolithiasis, Focal segmental glomerulosclerosis, Enl...	OMIM:232220
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Atrial septal defect, Coronary artery fistula, Ventricular septal defect, Unilateral renal agenesis	OMIM:620024
Hemochromatosis, Type 2A	Hepatomegaly, Splenomegaly, Dilated cardiomyopathy, Cardiomyopathy, Cirrhosis	OMIM:602390
Legionnaires Disease	Pericarditis, Renal insufficiency, Proteinuria, Abnormal pleura morphology, Myocarditis, Recurren...	ORPHA:549
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Inability to wal...	ORPHA:324410
Alpha-Heavy Chain Disease	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:100025
Granulomatosis With Polyangiitis	Sinusitis, Granulomatosis, Otitis media, Chronic otitis media, Vasculitis, Skin ulcer, Pulmonary ...	ORPHA:900
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Recurrent urinary tract infections, Unilateral renal agenesis, Abnormal T cell subset distributio...	ORPHA:221139
Infantile Sialic Acid Storage Disease	Hepatomegaly, Cardiomegaly, Conjugated hyperbilirubinemia, Congestive heart failure, Splenomegaly	OMIM:269920
Atrial Septal Defect, Ostium Secundum Type	Bundle branch block, First degree atrioventricular block, Abnormal left ventricular function, Rig...	ORPHA:99103
Amyotrophic Lateral Sclerosis 21	Elevated circulating creatine kinase concentration, Centrally nucleated skeletal muscle fibers, R...	OMIM:606070
H Syndrome	Abnormality of the kidney, Lymphadenopathy, Hepatosplenomegaly, Micropenis, Enlarged kidney	ORPHA:168569
Retinitis Pigmentosa 89	Micronodular cirrhosis, Hepatic fibrosis, Intrahepatic bile duct dilatation, Hepatosplenomegaly	OMIM:618955
Rajab Interstitial Lung Disease With Brain Calcifications 1	Elevated hepatic transaminase, Pancytopenia, Portal hypertension, Abnormal pulmonary interstitial...	OMIM:613658
Arthrogryposis Multiplex Congenita 6	Akinesia, Respiratory failure, Increased variability in muscle fiber diameter, Nemaline bodies, A...	OMIM:619334
Ataxia-Pancytopenia Syndrome	Recurrent respiratory infections, Pancytopenia, Abnormal macrophage morphology, Abnormality of ne...	ORPHA:2585
Sea-Blue Histiocyte Disease	Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis	OMIM:269600
Lichen Planopilaris	Hepatitis, Skin ulcer	ORPHA:525
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Urethral atresia, Hydronephrosis, Enlarged kidney	OMIM:314390
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc...	ORPHA:3202
Microphthalmia, Syndromic 9	Atrial septal defect, Renal malrotation, Ventricular septal defect, Agenesis of pulmonary vessels...	OMIM:601186
Glycogen Storage Disease Of Heart, Lethal Congenital	Respiratory distress, Prolonged QRS complex, Apnea, Cardiomegaly, Pericardial effusion, Shortened...	OMIM:261740
Immunodeficiency 69	Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia	OMIM:618963
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Hepatomegaly, Severe B lymphocytopenia, Superficial dermal perivascular inflammatory infiltrate, ...	ORPHA:83617
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Unilateral renal agenesis, Abnormal cardiac septum morphology, Pulmonary hypoplasia, Hydronephros...	OMIM:308050
Neuraminidase Deficiency	Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Proteinuria, Bone-marrow foam cel...	OMIM:256550
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Recurrent upper res...	OMIM:252920
D-Bifunctional Protein Deficiency	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Cholestasis, Bile duct proliferation, ...	OMIM:261515
Atrial Septal Defect, Ostium Primum Type	First degree atrioventricular block, Tachypnea, Atrioventricular block, Fixed splitting of the se...	ORPHA:99106
Spinocerebellar Ataxia 21	Ataxia, Akinesia, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Cognitive impairment, ...	OMIM:607454
Congenital Pulmonary Lymphangiectasia	Hepatomegaly, Splenomegaly, Chylopericardium, Pulmonic stenosis, Pleural effusion, Ascites	ORPHA:2414
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis, Intermittent jaundice	OMIM:179700
Niemann-Pick Disease, Type A	Hepatomegaly, Splenomegaly, Inability to walk, Lymphadenopathy, Irritability, Athetosis	OMIM:257200
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Ventricular septal defect, Hypospadias, Unilateral renal agenesis, Renal cyst, Micropenis, Aortic...	ORPHA:464311
Hereditary Hemorrhagic Telangiectasia	Conjunctival telangiectasia, Gastrointestinal hemorrhage, Transient ischemic attack, Epistaxis, P...	ORPHA:774
Harderoporphyria	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Increased urine harderoporphyrin level, Splenome...	OMIM:618892
Cutis Laxa, Autosomal Dominant 3	Unilateral renal agenesis	OMIM:616603
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Congenital adrenal hyperplasia, Decreased circulating aldosterone level, Adrenogenital syndrome, ...	OMIM:202010
Felty Syndrome	Recurrent respiratory infections, Pericarditis, Hepatomegaly, Recurrent urinary tract infections,...	ORPHA:47612
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Congestive heart failure, Cardiomegaly	OMIM:300886
Splenoportal Vascular Anomalies	Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites	OMIM:271500
Acrocephalopolydactylous Dysplasia	Hepatomegaly, Enlarged kidney, Cystic renal dysplasia, Polysplenia	OMIM:200995
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Lymphadenopathy, Fluctuating splenomegaly	OMIM:619220
Meacham Syndrome	Hypoplasia of penis, Crossed fused renal ectopia, Ventricular septal defect, Situs inversus total...	ORPHA:3097
Igg4-Related Kidney Disease	Renal insufficiency, Proteinuria, Lymphadenitis, Renal interstitial immunoglobulin deposits, Chro...	ORPHA:449395
Tropical Endomyocardial Fibrosis	Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun...	ORPHA:75565
Familial Aortic Dissection	Aortic regurgitation, Cardiomegaly, Patent ductus arteriosus, Abnormal left ventricular function,...	ORPHA:229
Aplasia Cutis Congenita	Skin ulcer	ORPHA:1114
Congenital Toxoplasmosis	Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Jaundice, Cognitive impairment	ORPHA:858
Attenuated Chédiak-Higashi Syndrome	Recurrent respiratory infections, Epistaxis, Skin ulcer	ORPHA:352723
Diffuse Cutaneous Systemic Sclerosis	Telangiectasia of the skin, Congestive heart failure, Skin ulcer, Arthritis, Pulmonary fibrosis, ...	ORPHA:220393
Gaucher Disease Type 1	Hepatomegaly, Pancytopenia, Proteinuria, Pericardial effusion, Hypersplenism, Thrombocytopenia, S...	ORPHA:77259
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:610293
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Pancytopenia, Hepatocellular carcinoma, Thrombocytopenia, Splenomegaly, H...	ORPHA:158057
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Abnormal cardiac ventricular function, Tricuspid regurgitation, Paroxysmal atrial f...	ORPHA:1677
Immunodeficiency 22	Pericarditis, Abscess, Thrombocytopenia, Recurrent upper respiratory tract infections, Capillary ...	OMIM:615758
Chromosome 17Q12 Deletion Syndrome	Hypoplasia of the bladder, Recurrent urinary tract infections, Multicystic kidney dysplasia, Unil...	OMIM:614527
Pentalogy Of Cantrell	Absent gallbladder, Ventricular septal defect, Abnormal pericardium morphology, Hypospadias, Rena...	ORPHA:1335
Spinocerebellar Ataxia Type 21	Cognitive impairment, Progressive cerebellar ataxia, Akinesia, Gait ataxia	ORPHA:98773
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Splenomegaly, Lymphadenopathy	OMIM:603552
Matthew-Wood Syndrome	Abnormal lung morphology, Renal hypoplasia, Aplasia/Hypoplasia of the pancreas, Horseshoe kidney,...	ORPHA:2470
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Proteinuria, Heparan sulfate excretion in urine, Inability to walk, Hepatosplenomegaly, Nephrotic...	ORPHA:505248
Fanconi Anemia, Complementation Group L	Unilateral renal agenesis, Renal hypoplasia, Bone marrow hypocellularity, Micropenis, Anemia	OMIM:614083
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Ataxia, Cardiomegaly, Congestive heart failure, Unsteady gait, Limb ataxia, Gait ataxia, Cardiomy...	OMIM:619259
Sickle Cell Disease	Hepatomegaly, Hemolytic anemia, Renal insufficiency, Cardiomegaly, Splenomegaly, Jaundice, Leukoc...	OMIM:603903
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Neonatal respiratory distress, Elevated circulating creatine kinase concentration, ...	ORPHA:228308
Aortic Arch Interruption	Respiratory distress, Bicuspid aortic valve, Tachypnea, Aortic valve atresia, Aortopulmonary wind...	ORPHA:2299
Dyrk1A-Related Intellectual Disability Syndrome	Ventricular septal defect, Hypospadias, Unilateral renal agenesis, Renal cyst, Micropenis, Aortic...	ORPHA:464306
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Congenital hypothyroidism, Colitis, Hypoalbuminemia, Cardiomegaly	ORPHA:88643
Congenital Rubella Syndrome	Hepatomegaly, Ventricular septal defect, Thrombocytopenia, Splenomegaly, Jaundice, Atrial septal ...	ORPHA:290
Congenital Myopathy 12	Akinesia, Respiratory insufficiency due to muscle weakness, Jaw contracture, Abnormal circulating...	OMIM:612540
Activated Pi3K-Delta Syndrome	Hepatomegaly, Pneumonia, Splenomegaly, Recurrent tonsillitis, Bronchiectasis, Lymphadenopathy, B ...	ORPHA:397596
Prolidase Deficiency	Recurrent respiratory infections, Hepatomegaly, Splenomegaly, Erythema, Crusting erythematous der...	ORPHA:742
7Q11.23 Microduplication Syndrome	Ventricular septal defect, Hypospadias, Unilateral renal agenesis, Enuresis, Atrial septal defect...	ORPHA:96121
Hypocomplementemic Urticarial Vasculitis	Hepatomegaly, Glomerulopathy, Renal insufficiency, Abnormal heart valve morphology, Proteinuria, ...	ORPHA:36412
Autosomal Dominant Epidermolytic Ichthyosis	Skin ulcer, Erythroderma	ORPHA:312
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Hepatosplenomegaly, Lymphadenopathy	OMIM:618982
Congenital Disorder Of Glycosylation, Type Iiw	Elevated hepatic transaminase, Hepatomegaly, Membranoproliferative glomerulonephritis, Elevated c...	OMIM:619525
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Pericardial...	OMIM:613011
Hyperkeratosis Lenticularis Perstans	Skin ulcer	ORPHA:409
Combined Oxidative Phosphorylation Deficiency 33	Elevated hepatic transaminase, Hepatomegaly, Cardiac arrest, Elevated circulating creatine kinase...	OMIM:617713
Pfapa Syndrome	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:42642
Digeorge Syndrome	Renal dysplasia, Renal insufficiency, Ventricular septal defect, Unilateral renal agenesis, Atele...	OMIM:188400
Mitochondrial Complex I Deficiency, Nuclear Type 39	Atrial septal defect, Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Card...	OMIM:620135
Dermatomyositis	Recurrent respiratory infections, Pericarditis, Abnormal eosinophil morphology, Sinus tachycardia...	ORPHA:221
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Ventricular septal defect, Splenomegaly, Chronic kidney disease, Cholestasis, Hepat...	OMIM:615630
Hereditary Amyloidosis With Primary Renal Involvement	Hepatomegaly, Renal insufficiency, Proteinuria, Renal interstitial amyloid deposits, Nocturia, Ab...	ORPHA:85450
Leopard Syndrome 1	Hypospadias, Unilateral renal agenesis, Complete atrioventricular canal defect, Mitral valve prol...	OMIM:151100
Chronic Mucocutaneous Candidiasis	Recurrent respiratory infections, Skin rash, Erythema, Hepatitis, Skin ulcer, Cheilitis	ORPHA:1334
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24	Myositis, Biliary atresia	ORPHA:565899
Atypical Juvenile Parkinsonism	Akinesia, Inability to walk, Gait ataxia, Shuffling gait, Leg muscle stiffness, Short stepped shu...	ORPHA:391411
Aplasia Cutis-Myopia Syndrome	Skin ulcer	ORPHA:1117
Naxos Disease	Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ...	OMIM:601214
Toxic Epidermal Necrolysis	Acute hepatic failure, Recurrent respiratory infections, Elevated hepatic transaminase, Gastroint...	ORPHA:537
Aorta Coarctation	Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Patent ductus arteriosus, Aortic v...	ORPHA:1457
Immunodeficiency 42	Splenomegaly, Hepatomegaly, Hypoplasia of the thymus	OMIM:616622
Tyrosinemia, Type I	Hepatomegaly, Renal insufficiency, Splenomegaly, Nephrocalcinosis, Renal Fanconi syndrome, Glomer...	OMIM:276700
Anemia, Congenital Dyserythropoietic, Type Ib	Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund...	OMIM:615631
Mullerian Aplasia And Hyperandrogenism	Unilateral renal agenesis	OMIM:158330
Craniofaciofrontodigital Syndrome	Gastrointestinal hemorrhage, Persistent fetal circulation, Respiratory distress, Bicuspid aortic ...	ORPHA:363705
Neurooculocardiogenitourinary Syndrome	Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Atria...	OMIM:618652
Corticobasal Syndrome	Memory impairment, Dementia, Gait disturbance, Akinesia	ORPHA:454887
Livedoid Vasculopathy	Pancytopenia, Superficial dermal perivascular inflammatory infiltrate, Telangiectasia of the skin...	ORPHA:542643
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Tachycardia, Neonatal respiratory distress, Apnea, Ventricular septal defect, Flexion contracture...	OMIM:614653
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Pericarditis, Splenomegaly, Lymphadenopathy, Pleural effusion	ORPHA:85414
Glycogen Storage Disease Ia	Hepatomegaly, Proteinuria, Nephrolithiasis, Focal segmental glomerulosclerosis, Enlarged kidney, ...	OMIM:232200
Hemihyperplasia-Multiple Lipomatosis Syndrome	Nephroblastoma, Abnormality of the lymphatic system, Enlarged kidney	ORPHA:276280
Pancreatic Colipase Deficiency	Cholelithiasis, Exocrine pancreatic insufficiency, Megaloblastic anemia	ORPHA:309108
Adult-Onset Still Disease	Hepatomegaly, Pericarditis, Generalized lymphadenopathy, Neutrophilia, Myocarditis, Recurrent pha...	ORPHA:829
Ollier Disease	Skin ulcer, Anemia	ORPHA:296
Sacral Agenesis With Vertebral Anomalies	Unilateral renal agenesis, Persistent cloaca	OMIM:615709
Juvenile Hyaline Fibromatosis	Skin ulcer	ORPHA:2028
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Microvesicular hepatic steato...	OMIM:203700
Leukocyte Adhesion Deficiency, Type I	Osteomyelitis, Leukocytosis, Chronic mucocutaneous candidiasis, Skin ulcer, Rectal abscess, Perio...	OMIM:116920
Immunodeficiency With Hyper-Igm, Type 5	Lymphadenopathy	OMIM:608106
Denys-Drash Syndrome	Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental ...	OMIM:194080
Heme Oxygenase 1 Deficiency	Hepatomegaly, Proteinuria, Asplenia, Cervical lymphadenopathy, Lymphadenopathy, Hematuria, Nephritis	OMIM:614034
Cocaine Intoxication	Respiratory distress, Prolonged QRS complex, Elevated circulating creatine kinase concentration, ...	ORPHA:90068
Sandhoff Disease	Skeletal muscle atrophy, Orthostatic hypotension, Hepatomegaly, Reduced beta-hexosaminidase activ...	OMIM:268800
Ketamine-Induced Biliary Dilatation	Abnormal biliary tract morphology	ORPHA:293807
Giant Cell Arteritis	Pericarditis, Epistaxis, Sudden cardiac death, Abnormal pleura morphology, Recurrent pharyngitis,...	ORPHA:397
Focal Facial Dermal Dysplasia Type Iv	Intracranial hemorrhage, Abnormal mast cell morphology	ORPHA:398189
8Q24.3 Microdeletion Syndrome	Ventricular septal defect, Abnormality of the kidney, Unilateral renal agenesis, Complete atriove...	ORPHA:508488
Atrial Septal Defect, Coronary Sinus Type	Unroofed coronary sinus, Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic compo...	ORPHA:99104
Zttk Syndrome	Absent gallbladder, Unilateral lung agenesis, Ventricular septal defect, Polyuria, Unilateral ren...	OMIM:617140
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Cardiomegaly, Postnatal growth retardation, Tachypnea, Hypertension, Pulmonary arterial hypertension	OMIM:613320
Immunodeficiency 32A	Lymphadenitis, Lymphadenopathy	OMIM:614893
Portal Hypertension, Noncirrhotic, 1	Splenomegaly, Hepatomegaly, Portal hypertension	OMIM:617068
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ...	ORPHA:75564
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula...	OMIM:616860
Inflammatory Pseudotumor Of The Liver	Elevated circulating aspartate aminotransferase concentration, Increased hepatitis B virus antibo...	ORPHA:90003
Heterotaxy, Visceral, 1, X-Linked	Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arteries, Atrial septal...	OMIM:306955
Gist-Plus Syndrome	Gastrointestinal stroma tumor, Intussusception, Intestinal polyposis	OMIM:175510
Myoectodermal Gonadal Dysgenesis Syndrome	Accessory spleen, Unilateral renal agenesis	OMIM:618419
Glycogen Storage Disease Vii	Hemolytic anemia, Reticulocytosis, Jaundice, Reduced erythrocyte 2,3-diphosphoglycerate concentra...	OMIM:232800
Hereditary Late-Onset Parkinson Disease	Akinesia, Dementia, Shuffling gait, Mental deterioration, Orthostatic hypotension due to autonomi...	ORPHA:411602
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Fetal Akinesia Deformation Sequence	Multiple joint contractures, Camptodactyly of finger, Akinesia, Respiratory insufficiency, Genera...	ORPHA:994
Mulibrey Nanism	Hepatomegaly, Cardiomegaly, Congestive heart failure, Myocardial fibrosis, Pericardial constriction	OMIM:253250
Ornithine Transcarbamylase Deficiency	Splenomegaly, Aminoaciduria	ORPHA:664
Immunodeficiency With Hyper-Igm, Type 2	Lymphadenopathy	OMIM:605258
Arterial Calcification, Generalized, Of Infancy, 1	Neonatal respiratory distress, Myocardial infarction, Cardiomegaly, Congestive heart failure, Dil...	OMIM:208000
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Splenomegaly, Lymph node hypopl...	OMIM:602450
Generalized Eruptive Histiocytosis	Lymphadenopathy	ORPHA:157991
Classic Progressive Supranuclear Palsy Syndrome	Akinesia, Social and occupational deterioration, Falls, Gait imbalance, Mental deterioration, Axi...	ORPHA:240071
Hsd10 Disease, Infantile Type	Abnormal circulating enzyme concentration or activity, Cardiomegaly, Hyperammonemia, Choreoatheto...	ORPHA:391428
Congenital Bile Acid Synthesis Defect Type 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, ...	ORPHA:79303
Senior-Boichis Syndrome	Thickening of the tubular basement membrane, Hepatic fibrosis, Malformation of the hepatic ductal...	ORPHA:84081
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Atrial septal defect, Unilateral renal agenesis, Recurrent sinusitis	OMIM:213980
Kufor-Rakeb Syndrome	Torticollis, Ataxia, Akinesia, Dementia, Gait disturbance, Leg muscle stiffness	OMIM:606693
Lymphoproliferative Syndrome 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Recurrent pneumonia, Lymphadenopathy, ...	OMIM:615122
Penoscrotal Transposition	Renal agenesis, Hypospadias, Abnormality of the urethra, Penoscrotal transposition, Abnormality o...	ORPHA:2842
Hereditary Sensory And Autonomic Neuropathy Type 1	Osteomyelitis, Penetrating foot ulcers, Skin ulcer	ORPHA:36386
Rosaï-Dorfman Disease	Lymphadenopathy	ORPHA:158014
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Splenomegaly, Abnormal lymph node morphology, Hepatosplenomegaly	OMIM:612840
Neuropathy, Hereditary Sensory And Autonomic, Type Iib	Osteomyelitis, Acral ulceration	OMIM:613115
Alternating Hemiplegia Of Childhood	Respiratory distress, Apnea, Facial hypotonia, Cardiac conduction abnormality, Ataxia, Progressiv...	ORPHA:2131
Blau Syndrome	Pericarditis, Skin rash, Keratitis, Splenomegaly, Retrobulbar optic neuritis, Erythema, Erythema ...	ORPHA:90340
African Trypanosomiasis	Choreoathetosis, Conjunctivitis, Iritis, Delirium, Abnormal EKG, Hepatomegaly, Abnormality of the...	ORPHA:3385
Autoimmune Lymphoproliferative Syndrome, Type Iia	Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A...	OMIM:603909
Porphyria Due To Ala Dehydratase Deficiency	Restlessness, Abnormal fear-induced behavior, Depression, Increased urinary porphobilinogen, Agit...	ORPHA:100924
Mucopolysaccharidosis, Type Iiia	Hepatomegaly, Heparan sulfate excretion in urine, Splenomegaly, Recurrent upper respiratory tract...	OMIM:252900
Hereditary Orotic Aciduria	Recurrent respiratory infections, Orotic acid crystalluria, Splenomegaly, Abnormality of the uret...	ORPHA:30
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Cold Agglutinin Disease	Hemolytic anemia, Abnormal urinary color, Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:56425
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Infantile Myofibromatosis	Neoplasm of the lung, Neoplasm of the pancreas, Skin ulcer	ORPHA:2591
Immunodeficiency 97 With Autoinflammation	Recurrent sinopulmonary infections, Autoimmune hemolytic anemia, Recurrent urinary tract infectio...	OMIM:619802
Bullous Diffuse Cutaneous Mastocytosis	Cutaneous mastocytosis, Erythroderma	ORPHA:280785
Manganese Poisoning	Memory impairment, Gait disturbance, Confusion, Akinesia	ORPHA:306682
Burkitt Lymphoma	Abnormality of the spleen, Abnormal lymph node morphology	ORPHA:543
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Anemia	ORPHA:163596
Neurodegeneration With Brain Iron Accumulation 5	Mental deterioration, Dementia, Akinesia	OMIM:300894
Schnitzler Syndrome	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:37748
Alg9-Cdg	Hypoplasia of the bladder, Hepatomegaly, Ureteral hypoplasia, Irritability, Abnormal renal artery...	ORPHA:79328
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ...	ORPHA:766
Dubin-Johnson Syndrome	Hepatomegaly, Jaundice, Abnormality of the liver, Biliary tract abnormality	ORPHA:234
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Ataxia, Akinesia, Gait ataxia, Dysdiadochokinesis, Dementia, Shuffling gait, Memory impairment, H...	ORPHA:247234
Tako-Tsubo Cardiomyopathy	Prolonged QTc interval, Mildly elevated creatine kinase, Mildly reduced left ventricular ejection...	ORPHA:66529
Helsmoortel-Van Der Aa Syndrome	Hyperactivity, Recurrent urinary tract infections, Abnormal repetitive mannerisms, Bruxism, Enure...	OMIM:615873
Immunodeficiency With Hyper-Igm, Type 3	Absence of lymph node germinal center	OMIM:606843
Biliary, Renal, Neurologic, And Skeletal Syndrome	Anterior pituitary hypoplasia, Hepatic fibrosis, Intrahepatic bile duct dilatation, Hepatomegaly,...	OMIM:619534
Familial Multiple Nevi Flammei	Intracranial hemorrhage, Arrhythmia, Skin ulcer, Pulmonary embolism	ORPHA:624
Mucolipidosis Ii Alpha/Beta	Hepatomegaly, Cardiomegaly, Splenomegaly, Mucopolysacchariduria, Tip-toe gait, Enlarged kidney	OMIM:252500
Lymphoproliferative Syndrome, X-Linked, 1	Recurrent respiratory infections, Hepatomegaly, Pancytopenia, Aplastic anemia, Recurrent pharyngi...	OMIM:308240
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma...	ORPHA:288
Scalp-Ear-Nipple Syndrome	Renal insufficiency, Unilateral renal agenesis, Cardiac myxoma, Renal hypoplasia, Pyelonephritis	OMIM:181270
Multiple Pterygium Syndrome, Lethal Type	Amyoplasia, Flexion contracture, Hypoplastic heart, Akinesia	OMIM:253290
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Recurrent urinary tract infections, Ventricular septal defect, Abnormal pulmonary valve morpholog...	ORPHA:268261
Brooke-Spiegler Syndrome	Abnormality of the sublingual glands, Abnormality of the submandibular glands, Skin ulcer, Saliva...	ORPHA:79493
Autosomal Dominant Cutis Laxa	Unilateral renal agenesis, Dilatation of the ventricular cavity, Bronchiectasis, Pyelonephritis, ...	ORPHA:90348
Immunodeficiency 7	Recurrent respiratory infections, Autoimmune hemolytic anemia, Hepatomegaly, Splenomegaly, Hypere...	OMIM:615387
Fish-Eye Disease	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:79292
Abetalipoproteinemia	Decreased HDL cholesterol concentration, Cardiomegaly, Dysmetria, Gait ataxia, Steppage gait, Hyp...	ORPHA:14
Acrodysostosis 1 With Or Without Hormone Resistance	Unilateral renal agenesis	OMIM:101800
Amyloidosis, Hereditary, Transthyretin-Related	Ataxia, Confusion, Cardiomegaly, Limb ataxia, Cardiomyopathy, Dementia, Truncal ataxia, Orthostat...	OMIM:105210
Histiocytosis-Lymphadenopathy Plus Syndrome	Decreased response to growth hormone stimulation test, Cardiomegaly, Joint contracture of the 5th...	OMIM:602782
Caspase 8 Deficiency	Splenomegaly, Lymphadenopathy	OMIM:607271
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Dyskeratosis Congenita	Neoplasm of the pancreas, Recurrent respiratory infections, Hepatomegaly, Telangiectasia of the s...	ORPHA:1775
Cockayne Syndrome	Hepatomegaly, Neurogenic bladder, Renal insufficiency, Proteinuria, Urinary incontinence, Unilate...	ORPHA:191
Primary Biliary Cholangitis	Orthostatic hypotension, Portal hypertension, Increased circulating IgA level, Jaundice, Biliary ...	ORPHA:186
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Enlarged kidney, Micropenis, Renal dysplasia, Polycystic kidney dysplasia	OMIM:613091
Heterotaxy, Visceral, 5, Autosomal	Bilateral trilobed lung, Atrial septal defect, Right atrial isomerism, Ventricular septal defect,...	OMIM:270100
Mixed Connective Tissue Disease	Hemolytic anemia, Pericarditis, Hepatomegaly, Myocarditis, Mediastinal lymphadenopathy, Splenomeg...	ORPHA:809
Immunodeficiency 91 And Hyperinflammation	Hepatomegaly, Renal insufficiency, Membranoproliferative glomerulonephritis, Hemolytic-uremic syn...	OMIM:619644
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Hypospadias, Unilateral renal agenesis, Microphallus, Abnormal renal collecting system morphology...	ORPHA:468631
Transaldolase Deficiency	Hepatomegaly, Pancytopenia, Ventricular septal defect, Thrombocytopenia, Micronodular cirrhosis, ...	OMIM:606003
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A...	OMIM:601859
North American Indian Childhood Cirrhosis	Biliary cirrhosis, Portal hypertension, Prolonged neonatal jaundice	OMIM:604901
Endocrine-Cerebroosteodysplasia	Hyperechogenic kidneys, Hypospadias, Microphallus, Enlarged kidney	OMIM:612651
Shwachman-Diamond Syndrome	Normocytic anemia, Transient neutropenia, Aplastic anemia, Decreased response to growth hormone s...	ORPHA:811
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Hepatomegaly, Splenomegaly, Recurrent upper respiratory tract infections, Interstitial pneumoniti...	OMIM:620296
Primary Hepatic Neuroendocrine Carcinoma	Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Rig...	ORPHA:100085
Scrub Typhus	Splenomegaly, Renal insufficiency, Lethargy, Lymphadenopathy	ORPHA:83317
Werner Syndrome	Telangiectasia of the skin, Myocardial infarction, Congestive heart failure, Pulmonary artery ste...	ORPHA:902
Cirrhosis, Familial	Jaundice, Micronodular cirrhosis, Fulminant hepatitis, Biliary cirrhosis, Hypertension, Cirrhosis...	OMIM:215600
Omenn Syndrome	Hepatomegaly, Pneumonia, Eosinophilia, Splenomegaly, Leukocytosis, Lymphadenopathy, Nephrotic syn...	ORPHA:39041
Gaucher Disease, Type I	Hepatomegaly, Pancytopenia, Hypersplenism, Thrombocytopenia, Splenomegaly, Abnormal pulmonary int...	OMIM:230800
Arthrogryposis Multiplex Congenita 5	Neonatal respiratory distress, Cardiac arrest, Akinesia, Flexion contracture, Elbow flexion contr...	OMIM:618947
Nephroblastoma	Hematuria, Nephroblastoma, Lymphadenopathy	ORPHA:654
Neuropathy, Hereditary Sensory And Autonomic, Type Ic	Osteomyelitis, Skin ulcer	OMIM:613640
Bile Acid Synthesis Defect, Congenital, 5	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi...	OMIM:616278
Q Fever	Hepatomegaly, Pericarditis, Abnormal heart valve morphology, Pneumonia, Pericardial effusion, Myo...	ORPHA:781
Immunodeficiency 60 And Autoimmunity	Recurrent sinopulmonary infections, Pancytopenia, Splenomegaly, Bronchiectasis, Pulmonary fibrosi...	OMIM:618394
Blau Syndrome	Nongranulomatous uveitis, Pericarditis, Eczema, Erythema nodosum, Uveitis, Skin ulcer, Synovitis,...	OMIM:186580
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Lymphadenopathy, Follicular hyperplasia	OMIM:619846
Immunoglobulin A Vasculitis	Gastrointestinal hemorrhage, Episcleritis, Skin rash, Orchitis, Pustule, Vasculitis, Erythema, Sk...	ORPHA:761
Familial Cold Autoinflammatory Syndrome 2	Splenomegaly, Lymphadenopathy	OMIM:611762
Mitochondrial Complex I Deficiency, Nuclear Type 36	Cardiomegaly, Hyperprolinemia, Perimembranous ventricular septal defect, Hyperalaninemia, Limb hy...	OMIM:619170
Microsporidiosis	Myositis, Sinusitis, Cholangitis, Bronchitis, Abnormality of the spleen, Abnormality of the parat...	ORPHA:2552
Immunodeficiency 54	Hepatomegaly, Splenomegaly, Lymphadenopathy	OMIM:609981
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Hypospadias, Unilateral renal agenesis, Enlarged polycystic ovaries, Dilatation of the renal pelv...	ORPHA:95699
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Recurrent respiratory infections, Leukocytosis, Intraalveolar phospholipid accumula...	OMIM:618042
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat...	OMIM:174000
Gaucher Disease Type 3	Recurrent respiratory infections, Mitral valve calcification, Hepatomegaly, Abnormal heart valve ...	ORPHA:77261
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ...	OMIM:620066
Immunodeficiency 103, Susceptibility To Fungal Infections	Lymphadenopathy	OMIM:212050
Adams-Oliver Syndrome 5	Portal vein thrombosis, Hypersplenism, Splenomegaly, Right atrial enlargement, Pulmonic stenosis,...	OMIM:616028
Meckel Syndrome, Type 1	Accessory spleen, Malformation of the hepatic ductal plate, Asplenia, Splenomegaly, Cryptorchidis...	OMIM:249000
Myotonic Dystrophy 1	Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Cholelithiasis, Testicu...	OMIM:160900
Congenital Bile Acid Synthesis Defect Type 4	Elevated hepatic transaminase, Giant cell hepatitis, Hematochezia, Cholestatic liver disease, Cho...	ORPHA:79095
Hennekam-Beemer Syndrome	Telangiectasia of the skin, Pneumonia, Erythema, Skin vesicle, Hypotension, Mastocytosis, Arrhythmia	ORPHA:2135
Triosephosphate Isomerase Deficiency	Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Splenomegaly, Jaundice, Congestive heart ...	OMIM:615512
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Secundum atrial septal defect, Leukopenia, Hypoplasia of the thymus, Neutropenia, Hepatomegaly, H...	OMIM:612541
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Bilateral renal agenesis, Unilateral renal agenesis, Hydroureter	OMIM:619194
Thrombocythemia 1	Splenomegaly, Thrombocytosis	OMIM:187950
Dermatoosteolysis, Kirghizian Type	Keratitis, Osteoarthritis, Skin ulcer	ORPHA:1657
Adenocarcinoma Of The Anal Canal	Neoplasm of the lung, Neoplasm of the liver, Intestinal bleeding, Skin ulcer	ORPHA:424016
Meacham Syndrome	Accessory spleen, Enlarged kidney, Horseshoe kidney	OMIM:608978
Beckwith-Wiedemann Syndrome	Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Nephrolithiasis, Renal cortical cysts, Nephro...	OMIM:130650
Neonatal Lupus Erythematosus	Hemolytic anemia, Hepatomegaly, Pancytopenia, Aplastic anemia, Thrombocytopenia, Splenomegaly, Di...	ORPHA:398124
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count...	OMIM:612690
Neurodegeneration And Seizures Due To Copper Transport Defect	Respiratory distress, Tricuspid regurgitation, Cardiomegaly, Pneumothorax, Abnormal circulating c...	OMIM:620306
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Hypoplasia of the bladder, Ventricular septal defect, Renal agenesis, Hypospadias, Pulmonary arte...	OMIM:611812
Hepatoportal Sclerosis	Portal hypertension, Nodular regenerative hyperplasia of liver, Portal vein thrombosis, Hypersple...	ORPHA:64743
Double Outlet Left Ventricle	Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, ...	ORPHA:3427
Dehydrated Hereditary Stomatocytosis 2	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase...	OMIM:616689
Postencephalitic Parkinsonism	Abnormal respiratory system physiology, Akinesia, Cough	ORPHA:97349
Tularemia	Abnormal nasopharyngeal adenoid morphology, Cervical lymphadenopathy, Mediastinal lymphadenopathy...	ORPHA:3392
Immunodeficiency 105	Hepatosplenomegaly, Absence of lymph node germinal center	OMIM:619924
Immunodeficiency With Hyper-Igm, Type 4	Absence of lymph node germinal center	OMIM:608184
Systemic Sclerosis	Pericarditis, Osteomyelitis, Recurrent skin infections, Nail bed telangiectasia, Glomerulonephrit...	ORPHA:90291
Mucopolysaccharidosis Type 3	Hepatomegaly, Ataxia, Progressive neurologic deterioration, Cardiomegaly, Splenomegaly, Flexion c...	ORPHA:581
Neurofaciodigitorenal Syndrome	Unilateral renal agenesis	ORPHA:2673
Acrofacial Dysostosis 1, Nager Type	Tetralogy of Fallot, Ventricular septal defect, Unilateral renal agenesis	OMIM:154400
Immunodeficiency 36 With Lymphoproliferation	Splenomegaly, Recurrent upper respiratory tract infections, Enlarged tonsils, Bronchiectasis, Chr...	OMIM:616005
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Cervical lymphadenopathy	OMIM:618987
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu...	OMIM:314050
Lethal Acantholytic Erosive Disorder	Cardiomegaly, Impaired myocardial contractility, Hypovolemic shock, Respiratory failure, Cardiomy...	ORPHA:158687
Thyroid Lymphoma	Lymphadenopathy, Dysphagia	ORPHA:97285
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Absent tonsils, Absence of lymph node germinal center	ORPHA:277
Distal 22Q11.2 Microduplication Syndrome	Unilateral renal agenesis, Ventricular septal defect, Tricuspid valve prolapse	ORPHA:261337
Syndromic Diarrhea	Hepatomegaly, Lymphopenia, Bicuspid aortic valve, Ventricular septal defect, Hepatoblastoma, Incr...	ORPHA:84064
Ogden Syndrome	Apnea, Bicuspid aortic valve, Maternal diabetes, Cardiomegaly, Secundum atrial septal defect, Ven...	OMIM:300855
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Hemolytic anemia, Ventricular septal defect, Mitral atresia, Portal hypertension, Fetal ascites, ...	OMIM:619503
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Aortic regurgitation, Transient ischemic attack, Bicuspid aortic valve, Subarachnoid hemorrhage, ...	ORPHA:91387
Combined Immunodeficiency Due To Zap70 Deficiency	Lymphadenitis, Abnormal lymph node morphology, Lymphadenopathy, Nephrotic syndrome, Hepatosplenom...	ORPHA:911
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenomegaly, Hepat...	OMIM:619463
Neuromuscular Oculoauditory Syndrome	Respiratory distress, Elevated circulating creatine kinase concentration, Unsteady gait, Knee fle...	OMIM:618733
Congenital Myopathy 9A	EMG: myopathic abnormalities, Akinesia	OMIM:618822
Beckwith-Wiedemann Syndrome	Ureteral duplication, Hepatomegaly, Cardiomegaly, Splenomegaly, Nephrolithiasis, Hypercalciuria, ...	ORPHA:116
Glycogen Storage Disease Xii	Normocytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Elevated circulating alanine aminotransf...	OMIM:611881
Plague	Hepatomegaly, Tachycardia, Chapped lip, Skin rash, Hematemesis, Splenomegaly, Lymphadenitis, Eryt...	ORPHA:707
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Recurrent u...	OMIM:616100
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Nephrocalcinos...	OMIM:616084
Immunodeficiency 27B	Generalized lymphadenopathy	OMIM:615978
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hepatomegaly, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Nephrocalcinosis, Enl...	ORPHA:79259
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Absent gallbladder, Unilateral lung agenesis, Unilateral renal agenesis, Bilateral renal dysplasi...	ORPHA:500150
Griscelli Syndrome	Hepatomegaly, Ataxia, Splenomegaly, Lymphadenopathy, Bone marrow hypocellularity	ORPHA:381
Primary Myelofibrosis	Hepatomegaly, Anorexia, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly	ORPHA:824
Familial Mediterranean Fever	Hepatomegaly, Pericarditis, Neutrophilia, Splenomegaly, Leukocytosis, Peritonitis, Stage 5 chroni...	OMIM:249100
Cat Eye Syndrome	Ventricular septal defect, Renal agenesis, Biliary atresia, Vesicoureteral reflux, Horseshoe kidn...	OMIM:115470
Incontinentia Pigmenti	Telangiectasia of the skin, Eosinophilia, Supernumerary nipple, Skin rash, Keratitis, Congestive ...	ORPHA:464
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Ventricular septal defect, Cardiomegaly, Flexion contracture, Hypertrophic cardiomyopathy, Pleura...	OMIM:616897
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Spontaneous, recurrent epistaxis, Pancytopenia, Abnormality of the spleen, Thrombocytopenia, Sple...	ORPHA:2072
Tay-Sachs Disease	Psychomotor deterioration, Aspiration, Dementia	OMIM:272800
Boutonneuse Fever	Renal insufficiency, Cervical lymphadenopathy, Lymphadenopathy	ORPHA:83313
Subaortic Stenosis-Short Stature Syndrome	Arrhythmia, Biliary tract abnormality, Acne	ORPHA:3191
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Neoplasm of the lung, Erythema, Skin ulcer	ORPHA:659
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Roifman Syndrome	Hepatomegaly, Splenomegaly, Lymphadenopathy	OMIM:616651
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hepatitis, Cholestasis, Acute hepatic steatosis, Cholesterol gallstones, Macrovesicular hepatic s...	ORPHA:209902
Purine Nucleoside Phosphorylase Deficiency	Splenomegaly, Recurrent urinary tract infections, Ataxia, Lymph node hypoplasia	OMIM:613179
Gamma-Heavy Chain Disease	Recurrent respiratory infections, Autoimmune hemolytic anemia, Hepatomegaly, Autoimmune thrombocy...	ORPHA:100026
Drug-Induced Autoimmune Hemolytic Anemia	Splenomegaly, Autoimmune hemolytic anemia, Abnormal urinary color	ORPHA:90037
Fanconi Anemia, Complementation Group A	Duplicated collecting system, Pancytopenia, Renal agenesis, Ectopic kidney, Abnormal renal morpho...	OMIM:227650
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Ventricular septal defect, Splenomegaly, Pancreatic lymphangiectasis, Abnormal rena...	ORPHA:1655
Acrodermatitis Enteropathica	Pustule, Erythema, Cheilitis, Skin ulcer, Conjunctivitis, Dry skin, Blepharitis	ORPHA:37
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Persistent fetal circulation, Normochromic anemia, Bradycardia, Cholelithiasis, Hypertrophic card...	OMIM:618775
Calciphylaxis	Skin ulcer, Secondary hyperparathyroidism	ORPHA:280062
Meige Disease	Recurrent bacterial skin infections, Pleural effusion, Recurrent skin infections, Skin ulcer	ORPHA:90186
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis, Elevated hepatic i...	OMIM:615234
Pallister-Hall Syndrome	Ventricular septal defect, Hypospadias, Unilateral renal agenesis, Ectopic kidney, Abnormal lung ...	ORPHA:672
Pseudomyxoma Peritonei	Lymphadenopathy	ORPHA:26790
Neuropathy, Hereditary Sensory And Autonomic, Type Ia	Foot osteomyelitis, Osteomyelitis, Acral ulceration	OMIM:162400
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Hemoglobinuria, Poikilocytos...	OMIM:300908
Flynn-Aird Syndrome	Skin ulcer	ORPHA:2047
Laryngotracheoesophageal Cleft	Neonatal respiratory distress, Dyspnea, Stridor, Cough, Aspiration	ORPHA:2004
Alpha-N-Acetylgalactosaminidase Deficiency	Recurrent pneumonia, Cardiomegaly	ORPHA:3137
Senior-Loken Syndrome 8	Pancreatic cysts, Pallor, Hepatic cysts, Intrahepatic bile duct dilatation	OMIM:616307
Fanconi Anemia, Complementation Group E	Duplicated collecting system, Pancytopenia, Renal agenesis, Ectopic kidney, Reticulocytopenia, Ho...	OMIM:600901
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Atrial fibrillation, V...	ORPHA:137675
Griscelli Syndrome Type 2	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:79477
Autoimmune Polyendocrinopathy Type 4	Macrocytic anemia, Atrophic gastritis, Autoimmune thrombocytopenia, Iridocyclitis, Abnormal pulmo...	ORPHA:227990
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hepatomegaly, Ataxia, Splenomegaly, Lymphadenopathy, Irritability	OMIM:267700
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Autoimmune Polyendocrinopathy Type 3	Macrocytic anemia, Atrophic gastritis, Autoimmune hypoparathyroidism, Autoimmune thrombocytopenia...	ORPHA:227982
Parkinson Disease 23, Autosomal Recessive Early-Onset	Mental deterioration, Dementia, Akinesia	OMIM:616840
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy	ORPHA:3226
Mycosis Fungoides	Lymphadenopathy	OMIM:254400
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio...	OMIM:256810
Proboscis Lateralis	Ureteral agenesis, Duplication of renal pelvis, Ventricular septal defect, Unilateral renal agenesis	ORPHA:141099
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism	Freezing of gait, Akinesia	OMIM:619911
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatomegaly, Lymphadenitis, Leukocytosis, Dilated cardiomyopathy, Splenomegaly, Cholestasis, Lym...	OMIM:615895
Castleman Disease	Renal insufficiency, Generalized lymphadenopathy, Follicular hyperplasia, Mediastinal lymphadenop...	ORPHA:160
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Hyponatremia, Decreased circulating dehydroepiandrosterone concentration, Decreased circulating c...	OMIM:201750
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Unilateral renal agenesis	ORPHA:457284
Anaplastic Thyroid Carcinoma	Lymphadenopathy, Dysphagia	ORPHA:142
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Lymph node hypoplasia, Absent tonsils, Hepatomegaly	ORPHA:276
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Renal malrotation, Multicystic kidney dysplasia, Nephroblastoma, Bifid ureter, Enlarged kidney	ORPHA:500095
Roifman Syndrome	Lymphadenopathy, Hepatosplenomegaly	ORPHA:353298
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thrombocytopenia, ...	OMIM:603554
Ectodermal Dysplasia-Blindness Syndrome	Recurrent respiratory infections, Keratoconjunctivitis sicca, Skin ulcer	ORPHA:1806
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Decreased muscle mass, Decreased response to growth hormone stimulation test, Precocious puberty,...	ORPHA:96182
Acute Monoblastic/Monocytic Leukemia	Cervical lymphadenopathy, Oliguria, Anorexia	ORPHA:514
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Lmna-Related Cardiocutaneous Progeria Syndrome	Congestive heart failure, Abnormal intrahepatic bile duct morphology, Intracranial hemorrhage, Hy...	ORPHA:363618
Cantu Syndrome	Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Patent ductus arteriosus, Congenital h...	OMIM:239850
Medullary Thyroid Carcinoma	Lymphadenopathy, Dysphagia	ORPHA:1332
Aregenerative Anemia	Bone marrow hypocellularity, Emotional lability, Lymphadenopathy, Depression	ORPHA:101096
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hepatomegaly, Ataxia, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Irritability	OMIM:603553
Penile Agenesis	Urethral atresia, male, Ventricular septal defect, Hydroureter, Fetal pyelectasis, Bilateral rena...	ORPHA:49
Cinca Syndrome	Lymphadenopathy, Hepatosplenomegaly	OMIM:607115
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Unilateral renal agenesis, Recurrent u...	OMIM:308205
Adult Polyglucosan Body Disease	Skin ulcer	ORPHA:206583
Familial Keratoacanthoma	Adenoma sebaceum, Skin ulcer	ORPHA:493
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Hypoparathyroidism, Atrophic gastritis, Chronic active hepatitis, Asplenia, Iridocyclitis, Chroni...	OMIM:240300
Desmoplastic Small Round Cell Tumor	Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:83469
Truncus Arteriosus	Aortic regurgitation, Tachycardia, Ventricular septal defect, Abnormal heart valve morphology, Ca...	ORPHA:3384
Sézary Syndrome	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:3162
Parkinson Disease 17	Akinesia	OMIM:614203
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia	OMIM:617441
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness	Increased serum pyruvate, Hyperalaninemia, Hypothyroidism, Akinesia	OMIM:619147
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Lymphadenopathy, Hepatosplenomegaly	OMIM:619750
Congenital Total Pulmonary Venous Return Anomaly	Respiratory distress, Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venou...	ORPHA:99125
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly	OMIM:613576
Familial Mediterranean Fever	Pericarditis, Proteinuria, Splenomegaly, Peritonitis, Lymphadenopathy, Nephrocalcinosis, Nephroti...	ORPHA:342
Mitchell-Riley Syndrome	Absent gallbladder, Biliary atresia, Cholestasis, Acholic stools, Annular pancreas, Pancreatic hy...	OMIM:615710
Halperin-Birk Syndrome	Congenital diaphragmatic hernia, Inability to walk, Flexion contracture, Perimembranous ventricul...	OMIM:618651
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:612653
Amoebiasis Due To Free-Living Amoebae	Sinusitis, Pneumonia, Respiratory tract infection, Pustule, Skin ulcer, Granuloma, Arrhythmia, In...	ORPHA:68
Microgastria-Limb Reduction Defect Syndrome	Hepatomegaly, Multicystic kidney dysplasia, Crossed fused renal ectopia, Renal agenesis, Renal hy...	ORPHA:2538
Gallbladder Neuroendocrine Tumor	Biliary tract neoplasm, Extrahepatic cholestasis, Intermittent jaundice, Cholecystitis, Biliary t...	ORPHA:100086
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:616649
Sialuria	Elevated hepatic transaminase, Hepatomegaly, Cholelithiasis, Hepatosplenomegaly	ORPHA:3166
Acute Promyelocytic Leukemia	Hematuria, Addictive alcohol use, Anorexia, Lymphadenopathy	ORPHA:520
Waldenström Macroglobulinemia	Hepatomegaly, Renal insufficiency, Ataxia, Anorexia, Splenomegaly, Lymphadenopathy	ORPHA:33226
Cushing Disease	Adrenal hyperplasia, Acne, Myocardial infarction, Pituitary corticotropic cell adenoma, Leukocyto...	ORPHA:96253
Autoimmune Hemolytic Anemia, Warm Type	Abnormal urinary color, Autoimmune hemolytic anemia, Splenomegaly, Jaundice, Chronic lymphatic le...	ORPHA:90033
Lissencephaly Type 1 Due To Doublecortin Gene Mutation	Aspiration, Flexion contracture, Cognitive impairment	ORPHA:2148
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Unilateral renal agenesis, Secundum atrial septal defect, Recurrent pneumonia, Subarterial ventri...	ORPHA:99646
Thymic Neuroendocrine Tumor	Neoplasm of the thymus, Mediastinal lymphadenopathy, Chronic noninfectious lymphadenopathy, Calci...	ORPHA:97289
Esophageal Atresia	Respiratory distress, Ventricular septal defect, Maternal diabetes, Episodic respiratory distress...	ORPHA:1199
Proteasome-Associated Autoinflammatory Syndrome 1	Skeletal muscle atrophy, Decreased HDL cholesterol concentration, Elevated circulating C-reactive...	OMIM:256040
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Akinesia, Joint contracture, Hypoplasia of the musculature	OMIM:225790
Spinocerebellar Ataxia Type 8	Ataxia, Unsteady gait, Limb ataxia, Gait ataxia, Aspiration	ORPHA:98760
Hyperimmunoglobulinemia D With Periodic Fever	Hepatomegaly, Ataxia, Lymphadenopathy	ORPHA:343
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Splenomegaly, Nephroblastoma, Renal hypoplasia	OMIM:612918
Gaucher Disease, Type Iiic	Hepatomegaly, Mitral valve calcification, Pancytopenia, Cardiomegaly, Aortic valve calcification,...	OMIM:231005
Dpagt1-Cdg	Prolonged QT interval, Elevated hepatic transaminase, Hepatomegaly, Ataxia, Akinesia, Inability t...	ORPHA:86309
Developmental And Epileptic Encephalopathy 38	Aspiration, Ataxia, Limb hypertonia	OMIM:617020
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Lymphatic Filariasis	Proteinuria, Abnormality of the kidney, Glomerulonephritis, Lymphadenitis, Abnormality of the lym...	ORPHA:2035
Melkersson-Rosenthal Syndrome	Oligosacchariduria, Lymphadenopathy	ORPHA:2483
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone...	OMIM:301078
Martinez-Frias Syndrome	Pancreatic hypoplasia, Extrahepatic biliary duct atresia, Annular pancreas, Hypoplasia of the gal...	OMIM:601346
Grfoma	Neoplasm of the pancreas, Hepatomegaly, Gastrointestinal hemorrhage, Elevated circulating growth ...	ORPHA:97261
Pediatric Systemic Lupus Erythematosus	Dark urine, Renal insufficiency, Proteinuria, Lymphadenopathy, Hematuria, Nephrotic syndrome, Abn...	ORPHA:93552
Acquired Hypertrichosis Lanuginosa	Lymphadenopathy	ORPHA:2221
Common Variable Immunodeficiency	Recurrent respiratory infections, Hemolytic anemia, Pneumonia, Autoimmune thrombocytopenia, Splen...	ORPHA:1572
Mevalonic Aciduria	Ataxia, Fluctuating splenomegaly, Fluctuating hepatomegaly, Lymphadenopathy, Hepatosplenomegaly, ...	OMIM:610377
Cutaneous Mastocytoma	Lymphadenopathy	ORPHA:79455
Mogs-Cdg	Respiratory distress, Hypoventilation, Atrial septal defect, Hepatomegaly, Apnea, Cardiomegaly, H...	ORPHA:79330
Middle Ear Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy	ORPHA:100084
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Hepatomegaly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, S...	OMIM:224120
Proteasome-Associated Autoinflammatory Syndrome 4	Hepatomegaly, Splenomegaly, Lymphadenopathy	OMIM:619183
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Renal agenesis, J...	ORPHA:93111
American Trypanosomiasis	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:3386
Beck-Fahrner Syndrome	Ventricular septal defect, Facial hypotonia, Attention deficit hyperactivity disorder, Cardiomegaly	OMIM:618798
Mitochondrial Complex I Deficiency, Nuclear Type 28	Choreoathetosis, Hyperalaninemia, Akinesia, Truncal ataxia	OMIM:618249
Immunodeficiency 10	Lymphadenopathy	OMIM:612783
Thoracoabdominal Syndrome	Renal agenesis, Hypospadias, Transposition of the great arteries, Pulmonary hypoplasia, Ectopia c...	OMIM:313850
Gm2-Gangliosidosis, Ab Variant	Aspiration, Dementia	OMIM:272750
Ppoma	Neoplasm of the pancreas, Hepatomegaly, Gastrointestinal hemorrhage, Elevated circulating growth ...	ORPHA:97278
Cardiac-Urogenital Syndrome	Accessory spleen, Enlarged kidney, Patent urachus, Micropenis, Penoscrotal hypospadias	OMIM:618280
Infantile Systemic Hyalinosis	Telangiectasia of the skin, Skin ulcer, Polycystic ovaries	ORPHA:2176
Familial Pancreatic Carcinoma	Elevated hepatic transaminase, Pancreatic adenocarcinoma, Jaundice, Extrahepatic cholestasis, Hep...	ORPHA:1333
Overhydrated Hereditary Stomatocytosis	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase...	OMIM:185000
Diffuse Cutaneous Mastocytosis	Hepatomegaly, Abnormality of the spleen, Lymphadenopathy	ORPHA:79456
16P12.1P12.3 Triplication Syndrome	Abnormal intrahepatic bile duct morphology, Bilateral cryptorchidism, Tachycardia, Decreased resp...	ORPHA:485405
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Splenomegaly, Renal hypoplasia, Nephrocalcinosis, Aminoaciduria, Renal artery stenosis, Recurrent...	OMIM:617913
Neurofibroma	Enlargement of parotid gland, Intestinal bleeding, Neoplasia of the pleura, Recurrent otitis medi...	ORPHA:252183
Neuropathy, Hereditary Sensory And Autonomic, Type V	Septic arthritis, Osteoarthritis, Osteomyelitis, Acral ulceration	OMIM:608654
Pontine Tegmental Cap Dysplasia	Aspiration, Ataxia, Facial palsy, Dysmetria	OMIM:614688
Elliptocytosis 1	Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis	OMIM:611804
Simpson-Golabi-Behmel Syndrome, Type 1	Hepatomegaly, Hypospadias, Splenomegaly, Renal cyst, Duplication of renal pelvis, Polysplenia, Ne...	OMIM:312870
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Hepatitis, Cholestasis, Renal ...	OMIM:610199
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Small hypothenar eminence, Hypoplasia of the musculature, Cardiomegaly, Thenar muscle atrophy, Ab...	ORPHA:2463
Adult Syndrome	Absent nipple, Skin ulcer, Hypoplastic nipples, Dry skin, Breast hypoplasia	ORPHA:978
Gm2 Gangliosidosis, Ab Variant	Abnormal fear-induced behavior, Inappropriate behavior	ORPHA:309246
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Diffuse mesangial sclerosis, Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia,...	OMIM:102700
Cinca Syndrome	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:1451
Cantú Syndrome	Patent ductus arteriosus, Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly	ORPHA:1517
Sarcoidosis, Susceptibility To, 1	Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Pericardial effusion, Mediastinal lympha...	OMIM:181000
Developmental And Epileptic Encephalopathy 95	Hepatomegaly, Multiple joint contractures, Ataxia, Cardiomegaly, Inability to walk, Low alkaline ...	OMIM:618143
Aicardi-Goutières Syndrome	Elevated hepatic transaminase, Myositis, Multiple joint contractures, Diabetes mellitus, Chilblai...	ORPHA:51
Fanconi Anemia, Complementation Group Q	Biliary atresia, Bone marrow hypocellularity	OMIM:615272
Lig4 Syndrome	Hepatomegaly, Hypoplasia of penis, Lymphadenopathy	ORPHA:99812
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities	Neonatal respiratory distress, Decreased response to growth hormone stimulation test, Panhypopitu...	OMIM:618922
Proteasome-Associated Autoinflammatory Syndrome 2	Lymphadenopathy	OMIM:618048
Drug Reaction With Eosinophilia And Systemic Symptoms	Tubulointerstitial nephritis, Renal insufficiency, Nephrotic syndrome, Lymphadenopathy	ORPHA:139402
Familial Tumoral Calcinosis	Splenomegaly, Hepatomegaly, Nephrocalcinosis	ORPHA:53715
Neuroendocrine Tumor Of The Colon	Hepatomegaly, Chronic noninfectious lymphadenopathy, Anorexia	ORPHA:100080
Kikuchi-Fujimoto Disease	Hepatomegaly, Generalized lymphadenopathy, Ataxia, Anorexia, Splenomegaly, Cervical lymphadenopat...	ORPHA:50918
Neurodegeneration With Brain Iron Accumulation 1	Decreased muscle mass, Ataxia, Akinesia, Choreoathetosis, Myopathy, Dementia, Gait disturbance, M...	OMIM:234200
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Bicuspid aortic valve, Pneumonia, Cardiac conduction abnormality, Ventricular septal defect, Post...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Bicuspid aortic valve, Pneumonia, Cardiac conduction abnormality, Ventricular septal defect, Post...	ORPHA:353277
Familial Hemophagocytic Lymphohistiocytosis	Hepatomegaly, Splenomegaly, Abnormal renal physiology, Lymphadenopathy	ORPHA:540
Supranuclear Palsy, Progressive, 2	Akinesia, Falls, Gait imbalance, Retrocollis, Memory impairment, Frontolimbic dementia	OMIM:609454
Multiple Myeloma	Splenomegaly, Lymphadenopathy, Abnormality of the bladder, Nephrotic syndrome, Nephropathy, Pleur...	ORPHA:29073
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:169090
Cyclic Neutropenia	Cervical lymphadenopathy, Recurrent tonsillitis, Lymphadenopathy	ORPHA:2686
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Skin ulcer, Panniculitis, Scaling skin, Chylothorax, Leukemia, Pleural effusion, Dry skin, Erysip...	ORPHA:2526
Pulmonary Non-Tuberculous Mycobacterial Infection	Lymphadenopathy	ORPHA:411703
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Absent peripheral lymph nodes in presence of infection	ORPHA:98813
Chronic Graft Versus Host Disease	Elevated hepatic transaminase, Pancytopenia, Fasciitis, Urinary bladder inflammation, Pneumothora...	ORPHA:99921
Klatskin Tumor	Hepatomegaly, Lymphadenopathy	ORPHA:99978
Graft Versus Host Disease	Irritability, Lymphadenopathy, Hepatosplenomegaly	ORPHA:39812
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Glomerulonephritis, Lymphadenopathy	OMIM:304790
Malakoplakia	Inflammatory abnormality of the skin, Skin rash, Orchitis, Urinary bladder inflammation, Skin ulcer	ORPHA:556
Hereditary Acrokeratotic Poikiloderma	Telangiectasia of the skin, Eczema, Pustule, Erythema, Skin ulcer, Keratoconjunctivitis	ORPHA:2907
Combined Oxidative Phosphorylation Deficiency 41	Decreased circulating cortisol level, Elevated circulating creatine kinase concentration, Cardiom...	OMIM:618838
Peutz-Jeghers Syndrome	Neoplasm of the pancreas, Bile duct polyp, Biliary tract abnormality, Iron deficiency anemia, Int...	OMIM:175200
Hajdu-Cheney Syndrome	Recurrent respiratory infections, Hepatomegaly, Mitral stenosis, Splenomegaly, Skin ulcer, Period...	ORPHA:955
Bohring-Opitz Syndrome	Apnea, Facial hypotonia, Cardiomegaly, Inability to walk, Bilateral wrist flexion contracture, Co...	ORPHA:97297
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Recurrent respiratory infections, Cryptorchidism, Recurrent upper respiratory tract infections, C...	OMIM:300534
Cleft Larynx, Posterior	Aspiration	OMIM:215800
Supranuclear Palsy, Progressive, 1	Akinesia, Falls, Gait imbalance, Retrocollis, Memory impairment, Frontolimbic dementia	OMIM:601104
Hyperekplexia 1	Aspiration, Apnea	OMIM:149400
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Neonatal respiratory distress, Neonatal insulin-dependent diabetes mellitus, Ventri...	ORPHA:96191
Macrophage Activation Syndrome	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:158061
Peroxisome Biogenesis Disorder 12A (Zellweger)	Elevated hepatic transaminase, Cholelithiasis, Hepatic failure	OMIM:614886
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Splenomegaly, Vacuolated lymphocytes, Abnormal cardiomyocyte morphology, Cardiomyop...	ORPHA:565612
Hyper-Igd Syndrome	Splenomegaly, Lymphadenitis, Lymphadenopathy, Hepatosplenomegaly, Renal angiomyolipoma, Elevated ...	OMIM:260920
Cimdag Syndrome	Microvesicular hepatic steatosis, Cholelithiasis, Hepatomegaly	OMIM:619273
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Lymphadenopathy, Hepatosplenomegaly	ORPHA:169154
Immunodeficiency With Hyper-Igm, Type 1	Hepatomegaly, Splenomegaly, Enlarged tonsils, Absence of lymph node germinal center	OMIM:308230
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:436159
Neuroendocrine Tumor Of The Rectum	Hepatomegaly, Chronic noninfectious lymphadenopathy, Anorexia	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Hepatomegaly, Chronic noninfectious lymphadenopathy, Anorexia	ORPHA:100082
Say-Barber-Miller Syndrome	Eczema, Erythema nodosum, Cryptorchidism, Transient hypogammaglobulinemia of infancy, Decreased c...	ORPHA:3132
Bilateral Perisylvian Polymicrogyria	Ectopic posterior pituitary, Apnea, Weakness of facial musculature, Flexion contracture, Dysmetri...	ORPHA:98889
Insensitivity To Pain, Congenital, With Anhidrosis	Keratitis, Postural hypotension with compensatory tachycardia, Acral ulceration, Osteomyelitis	OMIM:256800
Distal Duplication 5Q	Cryptorchidism, Eczema, Aplasia/Hypoplasia of the gallbladder	ORPHA:96097
Carney Triad	Mediastinal lymphadenopathy, Anorexia, Lymphadenopathy	ORPHA:139411
Lymphangioleiomyomatosis	Abnormal urinary color, Renal neoplasm, Abnormality of the lymphatic system, Lymphadenopathy, Hem...	ORPHA:538
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive	Foot osteomyelitis, Acral ulceration	OMIM:256840
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Ataxia, Cardiomegaly, P...	OMIM:300967
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Enlarged tonsils, Lymphadenopathy, Hepatosplenomegaly	OMIM:606367
Cushing Syndrome Due To Ectopic Acth Secretion	Pancreatic adenocarcinoma, Adrenal hyperplasia, Acne, Pancreatoblastoma, Myocardial infarction, P...	ORPHA:99889
Opitz Gbbb Syndrome	Aspiration, Ventricular septal defect	OMIM:300000
Bronchial Neuroendocrine Tumor	Hepatomegaly, Chronic noninfectious lymphadenopathy, Anorexia	ORPHA:97287
Leprosy	Epistaxis, Abnormality of the spleen, Testicular mass, Penetrating foot ulcers, Uveitis, Abnormal...	ORPHA:548
Systemic Lupus Erythematosus	Proteinuria, Lupus nephritis, Pyuria, Lymphadenopathy, Depression, Hematuria	ORPHA:536
Riddle Syndrome	Generalized lymphadenopathy, Ataxia, Enuresis nocturna, Gait disturbance, Emotional lability	ORPHA:420741
Chronic Visceral Acid Sphingomyelinase Deficiency	Hepatomegaly, Autoimmune thrombocytopenia, Hypersplenism, Splenomegaly, Abnormal pulmonary inters...	ORPHA:77293
Williams Syndrome	Bicuspid aortic valve, Elevated circulating creatine kinase concentration, Myocardial infarction,...	ORPHA:904
Behçet Disease	Glomerulopathy, Renal insufficiency, Ataxia, Anorexia, Splenomegaly, Lymphadenopathy, Irritabilit...	ORPHA:117
Immunodeficiency, Common Variable, 8, With Autoimmunity	Splenomegaly, Generalized lymphadenopathy, Lymphadenopathy	OMIM:614700
Porphyria, Congenital Erythropoietic	Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Conjunctivitis, Cholelithiasis, Thrombocy...	OMIM:263700
Fucosidosis	Hepatomegaly, Cardiomegaly, Splenomegaly, Flexion contracture, Macroglossia, Mental deterioration...	OMIM:230000
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Elevated hepatic transaminase, Anterior uveitis, Inflammatory abnormality of the skin, Skin rash,...	ORPHA:95455
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Hepatomegaly, Absence of lymph node germinal center, Urinary retention, Hepatosplenomegaly	ORPHA:79124
Lethal Congenital Contracture Syndrome 10	Torticollis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Macroglossia, Hypoplasia ...	OMIM:617022
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lip telangiectasia, Cardiomegaly	ORPHA:79280
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Mediastinal lymphadenopathy, Hilar lymph node enlargement, Lethargy, Hepatomegaly	OMIM:620233
Rett Syndrome, Congenital Variant	Aspiration, Athetosis	OMIM:613454
Trichohepatoneurodevelopmental Syndrome	Hepatomegaly, Splenomegaly, Recurrent pancreatitis, Decreased liver function, Hypoplastic nipples...	OMIM:618268
Fucosidosis	Hepatomegaly, Decreased muscle mass, Hypothyroidism, Cardiomegaly	ORPHA:349
Proteasome-Associated Autoinflammatory Syndrome 3	Hepatomegaly, Splenomegaly, Lymphadenopathy	OMIM:617591
Cerebrotendinous Xanthomatosis	Cholelithiasis, Angina pectoris, Myocardial infarction	OMIM:213700
Oculocerebrorenal Syndrome Of Lowe	Recurrent respiratory infections, Hyperparathyroidism, Atelectasis, Thrombocytopenia, Cryptorchid...	ORPHA:534
Developmental And Epileptic Encephalopathy 100	Bilateral camptodactyly, Elbow flexion contracture, Gait ataxia, Choreoathetosis, Aspiration	OMIM:619777
Acute Generalized Exanthematous Pustulosis	Renal insufficiency, Lymphadenopathy	ORPHA:293173
Acute Interstitial Pneumonia	Lymphadenopathy	ORPHA:79126
Atypical Werner Syndrome	Telangiectasia of the skin, Congestive heart failure, Lack of skin elasticity, Skin ulcer, Ovaria...	ORPHA:79474
Parkes Weber Syndrome	Subarachnoid hemorrhage, High-output congestive heart failure, Skin ulcer, Bounding pulse, Scalin...	ORPHA:90307
22Q11.2 Deletion Syndrome	Gastrointestinal hemorrhage, Hypoparathyroidism, Hypertensive crisis, Acne, Impaired T cell funct...	ORPHA:567
Agammaglobulinemia, X-Linked	Lymph node hypoplasia, Recurrent urinary tract infections	OMIM:300755
Hennekam Syndrome	Ectopic kidney, Splenomegaly, Pulmonary lymphangiectasia, Horseshoe kidney, Lymphadenopathy, Lymp...	ORPHA:2136
Congenital Alveolar Capillary Dysplasia	Absent gallbladder, Asplenia, Aortic valve stenosis, Pulmonary arterial hypertension, Annular pan...	ORPHA:210122
Metachromatic Leukodystrophy	Abnormal gallbladder morphology, Hemobilia, Neoplasm of the gallbladder	ORPHA:512
Basel-Vanagaite-Smirin-Yosef Syndrome	Cholelithiasis, Recurrent pneumonia, Pulmonary arterial hypertension	ORPHA:464738
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Atrial septal defect, Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly, Elbow...	OMIM:245600
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Tachypnea, Respiratory insufficiency, Hepato...	OMIM:618278
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous	Skin ulcer	OMIM:245660
Adnp Syndrome	Respiratory distress, Aspiration, Attention deficit hyperactivity disorder	ORPHA:404448
Farber Disease	Lymphadenopathy, Hepatosplenomegaly	ORPHA:333
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Hepatomegaly, Hepatosplenomegaly, Cholecystitis, Recurrent otitis media, Cholelithiasis	OMIM:301066
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Splenomegaly, Lymphadenopathy, Tubulointerstitial nephritis, Nephrotic syndrome, Membranous nephr...	ORPHA:37042
Chime Syndrome	Erythema, Skin ulcer, Acute leukemia	ORPHA:3474
Trisomy 8P	Cryptorchidism, Recurrent upper respiratory tract infections, Abnormal lung lobation, Heart murmu...	ORPHA:264450
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Hyperactivity, Recurrent urinary tract infections, Hypospadias, Impulsivity, Aggressive behavior,...	ORPHA:353281
Spondyloenchondrodysplasia With Immune Dysregulation	Tubulointerstitial fibrosis, Lymphadenopathy	OMIM:607944
Pancreatoblastoma	Abnormal lymph node morphology	ORPHA:677
Poems Syndrome	Visceromegaly, Lymphadenopathy	ORPHA:2905
Neuropathy, Hereditary Sensory And Autonomic, Type Iia	Acral ulceration	OMIM:201300
Generalized Arterial Calcification Of Infancy	Respiratory distress, Ventricular hypertrophy, Transient ischemic attack, Elevated alkaline phosp...	ORPHA:51608
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Splenomegaly, Lymphadenopathy, Polysplenia	OMIM:619418
Pulmonary Capillary Hemangiomatosis	Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:199241
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Renal insufficiency, Chronic noninfectious lymphadenopathy, Glomerulonephritis, Hyp...	ORPHA:3261
T-Cell Immunodeficiency With Thymic Aplasia	Recurrent urinary tract infections, Aplasia of the thymus, Lymphadenopathy	ORPHA:83471
Singleton-Merten Syndrome 1	Waddling gait, Mitral valve calcification, Cardiomegaly, Congestive heart failure, Aortic valve c...	OMIM:182250
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Lymphadenopathy	OMIM:617099
Lathosterolosis	Elevated hepatic transaminase, Bilobate gallbladder, Increased mean platelet volume, Acanthocytos...	OMIM:607330
Familial Adenomatous Polyposis	Cholangiocarcinoma, Pancreatic adenocarcinoma, Goiter, Pituitary adenoma, Thyroiditis, Neoplasm o...	ORPHA:733
Yunis-Varon Syndrome	Ventricular septal defect, Cardiomegaly, Postnatal growth retardation, Renovascular hypertension,...	ORPHA:3472
8P Inverted Duplication/Deletion Syndrome	Cryptorchidism, Aplasia/Hypoplasia of the gallbladder	ORPHA:96092
Malt Lymphoma	Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:52417
Coccidioidomycosis	Renal insufficiency, Abnormality of the kidney, Abnormality of the spleen, Mediastinal lymphadeno...	ORPHA:228123
Selective Igm Deficiency	Lymphadenitis, Recurrent urinary tract infections, Lymphadenopathy	ORPHA:331235
Ileal Neuroendocrine Tumor	Hydronephrosis, Lymphadenopathy	ORPHA:100078
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Generalized lymphadenopathy	OMIM:620232
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Cyst of the ductus choledochus	OMIM:619480
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Pulmonary artery stenosis, Biliary atresia, Pancreatic aplasia, Aplasia/Hypoplasia of the gallbla...	ORPHA:2255
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Absent gallbladder, Cryptorchidism, Heart murmur, Intracranial hemorrhage, Anemia, Thrombocytopenia	ORPHA:163979
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Cyst of the ductus choledochus, Recurrent upper and lower respiratory tract infections, Hypoplast...	ORPHA:480880
Immunodeficiency 31C	Hepatomegaly, Splenomegaly, Lymphadenopathy	OMIM:614162
Chikungunya	Cervical lymphadenopathy, Lymphadenopathy, Depression	ORPHA:324625
Tangier Disease	Left ventricular hypertrophy, Orange discolored tonsils, Chronic noninfectious lymphadenopathy, H...	ORPHA:31150
Kawasaki Disease	Irritability, Cervical lymphadenopathy, Proteinuria, Sterile pyuria	ORPHA:2331
Marburg Hemorrhagic Fever	Renal insufficiency, Anorexia, Aggressive behavior, Lymphadenopathy, Lethargy	ORPHA:99826
Charcot-Marie-Tooth Disease Type 4B2	Penetrating foot ulcers	ORPHA:99956
Crimean-Congo Hemorrhagic Fever	Hepatomegaly, Proteinuria, Anorexia, Splenomegaly, Lymphadenopathy, Hematuria, Agitation, Emotion...	ORPHA:99827
Igg4-Related Submandibular Gland Disease	Renal insufficiency, Abnormality of the kidney, Lymphadenopathy	ORPHA:449432
Sarcoidosis	Hepatomegaly, Renal insufficiency, Nephrolithiasis, Hypercalciuria, Abnormal lymph node morpholog...	ORPHA:797
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Cervical lymphadenopathy, Lymphadenopathy	OMIM:617718
Neuroendocrine Neoplasm Of Appendix	Hepatomegaly, Chronic noninfectious lymphadenopathy, Anorexia	ORPHA:100079
Steinert Myotonic Dystrophy	Elevated hepatic transaminase, Atrial fibrillation, Prolonged QRS complex, Left ventricular systo...	ORPHA:273
Tetrasomy 9P	Absent gallbladder, Pericarditis, Myositis, Raynaud phenomenon, Cryptorchidism, Jaundice, Biliary...	ORPHA:3310
Immunodeficiency 55	Lymphadenopathy	OMIM:617827
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Lymphadenopathy, Hepatosplenomegaly	ORPHA:85408
Leptospirosis	Hepatomegaly, Anorexia, Cellular urinary casts, Lymphadenopathy, Acute kidney injury	ORPHA:509
Cerebrotendinous Xanthomatosis	Cholelithiasis, Abnormal lung morphology, Prolonged neonatal jaundice	ORPHA:909
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Absent peripheral lymph nodes in presence of infection	OMIM:600802
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Splenomegaly, Lymphadenopathy	ORPHA:32960
Distal Deletion 12Q	Late onset atopic dermatitis, Unilateral cryptorchidism, Pituitary adenoma, Biliary atresia, Annu...	ORPHA:96149
Heart Defects, Congenital, And Other Congenital Anomalies	Absent gallbladder, Pulmonary artery stenosis, Biliary atresia, Pulmonic stenosis, Pancreatic hyp...	OMIM:600001
Immunodeficiency 82 With Systemic Inflammation	Splenomegaly, Follicular hyperplasia, Anorexia, Lymphadenopathy	OMIM:619381
Pancreatic Agenesis-Holoprosencephaly Syndrome	Absent gallbladder, Pancreatic aplasia	ORPHA:556955
Autosomal Recessive Malignant Osteopetrosis	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:667
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Absent gallbladder, Pulmonary hypoplasia	OMIM:617925
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Pancreatic aplasia, Absent gallbladder, Elevated circulating alanine aminotransferase concentrati...	OMIM:618500
Craniofacioskeletal Syndrome	Absent gallbladder, Cryptorchidism	OMIM:300712
Igg4-Related Dacryoadenitis And Sialadenitis	Tubulointerstitial nephritis, Lymphadenopathy	ORPHA:79078
Steinfeld Syndrome	Absent gallbladder	OMIM:184705
Igg4-Related Ophthalmic Disease	Abnormality of the kidney, Lymphadenopathy	ORPHA:449563
Trisomy 10P	Absent gallbladder	ORPHA:171929
Pmm2-Cdg	Elevated hepatic transaminase, Pericarditis, Angina pectoris, Elevated circulating growth hormone...	ORPHA:79318
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Absent gallbladder	ORPHA:3186
Ring Chromosome 13 Syndrome	Hypoplasia of the gallbladder	ORPHA:96176
Peters-Plus Syndrome	Cryptorchidism, Biliary tract abnormality, Bilobate gallbladder, Pulmonic stenosis	OMIM:261540
Split Cord Malformation	Penetrating foot ulcers	ORPHA:573278

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.

Phenotype	Allele	Zygosity	Sex	Life Stage
Lymph node - MPATH pathological process term hyperplasia	Ncf1^em1(IMPC)Mbp	HOM		Early adult

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 Ncf1.

There are 1 publication which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation.	G3 (Bethesda, Md.) (June 2020)	Ncf1^m1J	PMC7263671

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

MGI Allele	Allele Type	Produced
Ncf1^em1(IMPC)Mbp	Exon Deletion	Mice, Tissue
Ncf1^{tm40457(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

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: Ncf1 MGI:97283

Gene Summary

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lacZ Expression

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Histopathology

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Human diseases caused by Ncf1 mutations

Histopathology

IMPC related publications

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