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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
enlarged spleen	Ncf1^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal eye morphology	Ncf1^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal kidney morphology	Ncf1^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal skin morphology	Ncf1^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal heart morphology	Ncf1^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal lung morphology	Ncf1^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal behavior	Ncf1^em1(IMPC)Mbp	HOM	Early adult	1.94×10^-07
single kidney	Ncf1^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal kidney morphology	Ncf1^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal lymph node morphology	Ncf1^em1(IMPC)Mbp	HOM	Early adult	0.00
small kidney	Ncf1^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal spleen morphology	Ncf1^em1(IMPC)Mbp	HOM	Late adult	0.00
increased heart atrium size	Ncf1^em1(IMPC)Mbp	HOM	Late adult	0.00
decreased thigmotaxis	Ncf1^em1(IMPC)Mbp	HOM	Early adult	2.01×10^-07
enlarged kidney	Ncf1^em1(IMPC)Mbp	HOM	Early adult	0.00
decreased anxiety-related response	Ncf1^em1(IMPC)Mbp	HOM	Early adult	6.69×10^-06
enlarged lymph nodes	Ncf1^em1(IMPC)Mbp	HOM	Early adult	0.00
decreased locomotor activity	Ncf1^em1(IMPC)Mbp	HOM	Early adult	8.59×10^-21

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

89 Images

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X-ray

XRay Images Whole Body Lateral Orientation

31 Images

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X-ray

XRay Images Whole Body Dorso Ventral

30 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 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 (1027 diseases)

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

Disease	Matching phenotypes	Source
Chronic Granulomatous Disease	Hepatomegaly, Liver abscess, Skin ulcer, Inflammatory abnormality of the eye, Eczematoid dermatit...	ORPHA:379
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Liver abscess, Hepatomegaly, Rectal abscess, Discoid lupus rash, Recurrent bacterial skin infecti...	OMIM:233700
Williams Syndrome	Chronic otitis media, Abnormal circulating lipid concentration, Hypertension, Cerebral ischemia, ...	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	Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Pancreatitis, ...	ORPHA:69663
Melioidosis	Lung abscess, Liver abscess, Prostatitis, Acute infectious pneumonia, Foot osteomyelitis, Splenic...	ORPHA:31202
Meckel Diverticulum	Meckel diverticulum	OMIM:155140
Chronic Granulomatous Disease	Hepatomegaly, Liver abscess, Skin ulcer, Inflammatory abnormality of the eye, Eczematoid dermatit...	ORPHA:379
Blood Group, Cromer System	Protein-losing enteropathy	OMIM:613793
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Liver abscess, Elevated circulating hepatic transaminase concentration, Anemia, Abnormal testis m...	ORPHA:54251
Immunodeficiency 67	Liver abscess, Abnormal natural killer cell count, Complete or near-complete absence of specific ...	OMIM:607676
Specific Granule Deficiency 1	Recurrent otitis media, Abnormal neutrophil count, Hyposegmentation of neutrophil nuclei, Recurre...	OMIM:245480
Pulmonary Arteriovenous Malformation	Ischemic stroke, Myocardial infarction, Liver abscess, Iron deficiency anemia, Bacterial endocard...	ORPHA:2038
Polycystic Kidney Disease 5	Enlarged kidney, Polycystic kidney dysplasia, Hepatosplenomegaly, Hyperechogenic kidneys, Reduced...	OMIM:617610
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection	Pyoderma gangrenosum, Cutaneous abscess, Chronic furunculosis	OMIM:619986
Gallbladder Disease 1	Jaundice, Elevated circulating hepatic transaminase concentration, Pancreatitis, Cholangitis, Cho...	OMIM:600803
Caroli Disease	Cirrhosis, Intrahepatic cholestasis, Jaundice, Cholangitis, Cholelithiasis, Hepatomegaly, Liver a...	ORPHA:53035
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Liver abscess, Hepatomegaly, Rectal abscess, Discoid lupus rash, Recurrent bacterial skin infecti...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Liver abscess, Hepatomegaly, Rectal abscess, Discoid lupus rash, Recurrent bacterial skin infecti...	OMIM:233710
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Bronchitis, Skin rash, Psoriasiform dermatitis, Cholecystitis, Allergic rhinitis, Cholangitis, Ch...	ORPHA:183675
Neutrophil Immunodeficiency Syndrome	Leukocytosis, Abnormality of neutrophil physiology	ORPHA:183707
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Liver abscess, Hepatomegaly, Rectal abscess, Discoid lupus rash, Recurrent bacterial skin infecti...	OMIM:233690
Caroli Syndrome	Hematemesis, Cirrhosis, Intrahepatic cholestasis, Jaundice, Elevated circulating hepatic transami...	ORPHA:480520
Amoebiasis Due To Entamoeba Histolytica	Lung abscess, Congestive heart failure, Liver abscess, Elevated circulating hepatic transaminase ...	ORPHA:67
Immunodeficiency 30	Recurrent infections, Recurrent mycobacterial infections	OMIM:614891
Sclerosing Cholangitis, Neonatal	Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Chole...	OMIM:617394
Granulomatous Disease, Chronic, X-Linked	Hepatomegaly, Atelectasis, Liver abscess, Rectal abscess, Discoid lupus rash, Pleural effusion, R...	OMIM:306400
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Unilateral renal agenesis, Bilateral renal agenesis, Ureteral atresia, Bicuspid aortic valve, Dou...	OMIM:618845
Biliary Atresia, Extrahepatic	Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Porta...	OMIM:210500
Necrobiosis Lipoidica	Skin ulcer, Abnormality of neutrophil physiology, Granuloma, Inflammatory abnormality of the skin...	ORPHA:542592
Alveolar Echinococcosis	Decreased liver function, Jaundice, Liver abscess, Cholangitis, Increased circulating antibody le...	ORPHA:284
Cardiomyopathy, Dilated, 1I	Congestive heart failure, Reduced left ventricular ejection fraction, Elevated circulating creati...	OMIM:604765
Brucellosis	Bronchitis, Granuloma, Pericarditis, Leukopenia, Splenomegaly, Anterior uveitis, Myocarditis, Inc...	ORPHA:1304
Granulomatous disease with defect in neutrophil chemotaxis	Recurrent staphylococcal infections, Impaired neutrophil killing of staphylococci	OMIM:233670
Immunodeficiency 86	Decreased circulating IgG level, Increased circulating IgM level, Impaired oxidative burst	OMIM:619549
Nephronophthisis 19	Hepatomegaly, Cholestasis, Bile duct proliferation, Splenomegaly, Hepatic fibrosis, Malformation ...	OMIM:616217
Late-Onset Familial Hypoaldosteronism	Hyperkalemia, Postnatal growth retardation, Elevated serum 11-deoxycortisol, Orthostatic hypotens...	ORPHA:556037
Bile Acid Synthesis Defect, Congenital, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Acholic stools, Elevated circulating...	OMIM:613812
Immunodeficiency 32B	Hepatomegaly, Anemia, Abnormal circulating IgG level, Bronchiectasis, Eosinophilia, Sinusitis, Ne...	OMIM:226990
Early-Onset Familial Hypoaldosteronism	Hyperkalemia, Postnatal growth retardation, Elevated serum 11-deoxycortisol, Orthostatic hypotens...	ORPHA:556030
Cholestasis, Progressive Familial Intrahepatic, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentr...	OMIM:602347
Mantle Cell Lymphoma	Anorexia, Splenomegaly, Lymphadenopathy	ORPHA:52416
Generalized Pseudohypoaldosteronism Type 1	Hyperkalemia, Hypovolemic shock, Atopic dermatitis, Glucocortocoid-insensitive primary hyperaldos...	ORPHA:171876
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Jaundice, Cholelithiasis, Spontaneous hemolytic crises, Nonspherocytic hemolytic anemia, Impaired...	OMIM:613470
Immunodeficiency 38 With Basal Ganglia Calcification	Lymphadenopathy, Axillary lymphadenopathy, Inguinal lymphadenopathy	OMIM:616126
Immunodeficiency 31A	Recurrent mycobacterium avium complex infections, Recurrent viral infections, BCGitis, Herpes sim...	OMIM:614892
Congenital Disorder Of Glycosylation, Type Iic	Recurrent otitis media, Periodontitis, Reduction of neutrophil motility, Bronchiolitis, Neutrophi...	OMIM:266265
Listeriosis	Pericarditis, Pustule, Cholecystitis, Granulomatosis, Myocarditis, Jaundice, Splenic abscess, Con...	ORPHA:533
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Abnormal lymph node morphology	OMIM:136580
Papillon-Lefèvre Syndrome	Liver abscess, Severe periodontitis, Periodontitis, Pustule, Chronic furunculosis, Recurrent cuta...	ORPHA:678
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2	Renal hypoplasia, Hypoplastic left heart, Unilateral renal agenesis, Chronic kidney disease	OMIM:617661
Hepatorenocardiac Degenerative Fibrosis	Enlarged kidney, Tubular luminal dilatation, Renal interstitial fibrosis, Renal cyst, Hepatosplen...	OMIM:619902
Congenital Anomalies Of Kidney And Urinary Tract 1	Unilateral renal agenesis, Vesicoureteral reflux, Renal hypoplasia, Ureteropelvic junction obstru...	OMIM:610805
Immunodeficiency 81	Autoimmune hemolytic anemia, Decreased proportion of class-switched memory B cells, Petechiae, Ab...	OMIM:619374
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Jaundice, Hepatomegaly, Sclerosing cholangitis, Intrahepatic biliary atresia, Cholestasis, Dry sk...	OMIM:607626
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Hyperkalemia, Hyperactive renin-angiotensin system, Hypotension, Pseudohypoaldosteronism, Increas...	OMIM:177735
Cholestasis, Progressive Familial Intrahepatic, 8	Cirrhosis, Jaundice, Hepatomegaly, Sclerosing cholangitis, Cholestasis, Portal hypertension, Elev...	OMIM:619662
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Chronic oral candidiasis, Recurrent aphthous stomatitis, B lymphocytopenia, Recurrent pneumonia, ...	OMIM:150550
Corticosterone Methyloxidase Type I Deficiency	Hyperkalemia, Hypotension, Increased circulating renin level, Hyponatremia, Decreased circulating...	OMIM:203400
Renal Hypoplasia	Abnormal renal tubule morphology, Unilateral renal agenesis, Pelvic kidney, Recurrent urinary tra...	ORPHA:93101
Corticosterone Methyloxidase Type Ii Deficiency	Hyperkalemia, Orthostatic hypotension, Increased circulating corticosterone level, Increased circ...	OMIM:610600
Congenital Bile Acid Synthesis Defect Type 3	Cirrhosis, Jaundice, Cholestasis, Elevated circulating alanine aminotransferase concentration, Bi...	ORPHA:79302
Nocardiosis	Pneumothorax, Scleritis, Liver abscess, Emphysema, Pleuritis, Thyroiditis, Pleural effusion, Lymp...	ORPHA:31204
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Perianal abscess, Crohn's disease, Pleural effusion, Acute pancreatitis, Lymphopenia, Eczematoid ...	OMIM:618935
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Splenomegaly	ORPHA:2274
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hyperkalemia, Hypotension, Increased circulating renin level, Hyponatremia, Hyperaldosteronism	OMIM:620125
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Sterile abscess, Pancytopenia, Arthritis, Sterile arthritis, Cystic acne, Hepatosplenomegaly, Acn...	OMIM:604416
Squamous Cell Carcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99977
Oligomeganephronia	Abnormal nephron morphology, Decreased glomerular filtration rate, Unilateral renal agenesis, Abn...	ORPHA:2260
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Truncus arteriosus, Ventricular septal defect, Unilateral renal agenesis	OMIM:601355
Beta-Thalassemia	Hepatomegaly, Anemia, Skin ulcer, Cholelithiasis, Hypertrophic cardiomyopathy, Thrombocytopenia, ...	ORPHA:848
Reticular Dysgenesis	Chronic otitis media, Skin ulcer, Anemia, Skin rash, Decreased circulating antibody level, Leukop...	ORPHA:33355
Immunodeficiency 31B	Herpes simplex encephalitis, Recurrent viral infections, Recurrent mycobacterial infections	OMIM:613796
Neutropenia, Severe Congenital, 9, Autosomal Dominant	3-Methylglutaconic aciduria, Splenomegaly	OMIM:619813
Isolated Agammaglobulinemia	Skin ulcer, Anemia, Inflammatory abnormality of the eye, Arthritis, Skin rash, Abnormal lymphocyt...	ORPHA:229717
Congenital Absence Of Upper Arm And Forearm With Hand Present	Renal agenesis, Abnormal lung morphology, Abnormal heart morphology, Abnormal cardiac septum morp...	ORPHA:294975
Hepatic Venoocclusive Disease With Immunodeficiency	Absence of lymph node germinal center	OMIM:235550
Immunodeficiency, Common Variable, 6	Enlarged kidney, Hepatomegaly, Nephrotic range proteinuria, Mesangial Immune complex deposition, ...	OMIM:613496
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Enlarged kidney, Hepatomegaly, Splenomegaly	OMIM:615285
Congenital Megacalycosis	Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph...	ORPHA:93109
Chilblain Lupus 1	Skin ulcer, Raynaud phenomenon, Chilblains	OMIM:610448
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness	Unilateral renal agenesis	OMIM:235740
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Hypokalemia, Patent foramen ovale, Hypertension, Ventricular septal defect, Athetosis, Pulmonary ...	OMIM:615474
Pandas	Anorexia, Irritability, Obsessive-compulsive trait, Abnormal fear-induced behavior, Depression, E...	ORPHA:66624
Holzgreve Syndrome	Renal agenesis, Renal hypoplasia, Hypoplastic left heart	OMIM:236110
Chilblain Lupus	Skin ulcer, Increased circulating antibody level, Malar rash, Skin rash, Discoid lupus rash, Infl...	ORPHA:90280
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Unilateral renal agenesis, Ventricular septal defect, Crossed fused renal ectopia, Atrial septal ...	OMIM:618142
Immunodeficiency, Common Variable, 12, With Autoimmunity	Autoimmune hemolytic anemia, Decreased circulating antibody level, Recurrent sinusitis, Recurrent...	OMIM:616576
Nephronophthisis 3	Polydipsia, Polyuria, Enlarged kidney, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, ...	OMIM:604387
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Recurrent Klebsiella infections, Recurrent candida infections, BCGosis, Salmonella osteomyelitis,...	ORPHA:319552
Combined Immunodeficiency Due To Dock8 Deficiency	Chronic otitis media, Skin ulcer, B lymphocytopenia, Increased circulating IgE level, Recurrent b...	ORPHA:217390
Renal Agenesis	Unilateral renal agenesis, Aplasia/Hypoplasia of the bladder, Bilateral renal agenesis, Renal age...	ORPHA:411709
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	T lymphocytopenia, Recurrent sinusitis, Leukopenia, Lymphopenia, Abnormally low T cell receptor e...	OMIM:618986
Congenital Disorder Of Glycosylation, Type Iil	Cirrhosis, Hepatomegaly, Unilateral renal agenesis, Pancytopenia, Proximal tubulopathy, Cholestas...	OMIM:614576
Autosomal Recessive Primary Microcephaly	Vesicoureteral reflux, Unilateral renal agenesis	ORPHA:2512
Classic Mycosis Fungoides	Hepatomegaly, Skin ulcer, Skin rash, Abnormal lymphocyte morphology, Dry skin, Eczematoid dermati...	ORPHA:2584
Pulmonary Nodular Lymphoid Hyperplasia	Mediastinal lymphadenopathy, Follicular hyperplasia	ORPHA:60026
Glycogen Storage Disease Ixc	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Increased hepat...	OMIM:613027
Bare Lymphocyte Syndrome, Type I	Chronic otitis media, Skin ulcer, Emphysema, Recurrent bronchitis, Bronchiolitis, Bronchiectasis,...	OMIM:604571
Nephronophthisis 16	Enlarged kidney, Nephronophthisis, Polycystic kidney dysplasia, Stage 5 chronic kidney disease, R...	OMIM:615382
Renal-Hepatic-Pancreatic Dysplasia 1	Cirrhosis, Hyperechogenic pancreas, Hepatomegaly, Cholestasis, Biliary cirrhosis, Portal hyperten...	OMIM:208540
Dracunculiasis	Recurrent cutaneous abscess formation, Arthritis, Skin rash, Skin ulcer	ORPHA:231
Coach Syndrome 1	Cirrhosis, Hepatomegaly, Nephronophthisis, Unilateral renal agenesis, Abnormal abdomen morphology...	OMIM:216360
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Cholestatic liver disease, Cirrhosis, Elevated circulating hepatic transaminase concentration, Sc...	ORPHA:562639
Trimethylaminuria	Trimethylaminuria, Anemia, Recurrent pneumonia, Splenomegaly, Neutropenia	OMIM:602079
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Macrocytic anemia, Rectal abscess, Reduction of neutrophil motility, Leukocytosis, Neutrophilia, ...	OMIM:608203
Intellectual Developmental Disorder, Autosomal Recessive 71	Ventricular septal defect, Micropenis, Unilateral renal agenesis	OMIM:618504
Burn-Mckeown Syndrome	Renal hypoplasia, Atrial septal defect, Ventricular septal defect, Unilateral renal agenesis	OMIM:608572
Familial Hypoaldosteronism	Hyperkalemia, Orthostatic hypotension, Hypotension, Hypovolemia, Increased circulating renin leve...	ORPHA:427
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Unilateral renal agenesis, Patent foramen ovale, Renal hypoplasia, Hydronephrosis, Abnormal heart...	OMIM:618494
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Hyperkalemia, Increased circulating androstenedione concentration, Increased serum testosterone l...	ORPHA:90791
Indolent Systemic Mastocytosis	Hepatomegaly, Increased proportion of CD25+ mast cells, Skin rash, Mastocytosis, Splenomegaly, Ab...	ORPHA:98848
Meckel Syndrome, Type 3	Hepatic fibrosis, Hepatomegaly, Malformation of the hepatic ductal plate, Bile duct proliferation	OMIM:607361
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia	OMIM:206400
Autosomal Erythropoietic Protoporphyria	Decreased liver function, Cirrhosis, Cholelithiasis, Eczematoid dermatitis, Microcytic anemia, Er...	ORPHA:79278
Mastocytosis, Cutaneous	Cutaneous mastocytosis, Telangiectasia macularis eruptiva perstans, Erythema	OMIM:154800
Coronary Arterial Fistula	Aortic valve stenosis, Abnormal heart morphology, Bicuspid aortic valve, Cardiomegaly, Right vent...	ORPHA:2041
Nphp3-Related Meckel-Like Syndrome	Abnormal liver parenchyma morphology, Abnormal biliary tract morphology, Pulmonary hypoplasia, Ab...	ORPHA:3032
Reticuloendotheliosis, X-Linked	Hepatosplenomegaly, Lymphadenopathy	OMIM:312500
Hypereosinophilic Syndrome, Idiopathic	Endocardial fibrosis, Hepatomegaly, Restrictive cardiomyopathy, Myeloproliferative disorder, Sple...	OMIM:607685
Prolidase Deficiency	Hepatomegaly, Diffuse telangiectasia, Increased circulating antibody level, Anemia, Skin ulcer, P...	OMIM:170100
Gaisböck Syndrome	Hypertriglyceridemia, Hyperproteinemia, Elevated diastolic blood pressure, Hyperuricemia, Angina ...	ORPHA:90041
Hyperaldosteronism, Familial, Type I	Decreased circulating renin level, Hypertension, Adrenal hyperplasia, Adrenogenital syndrome, Hyp...	OMIM:103900
Immunodeficiency 114, Folate-Responsive	Hepatomegaly, Skin ulcer, Recurrent lower respiratory tract infections, Megaloblastic anemia, Inc...	OMIM:620603
Syndromic Recessive X-Linked Ichthyosis	Acute leukemia, Renal insufficiency, Unilateral renal agenesis	ORPHA:281090
Leishmaniasis	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Increased circulating anti...	ORPHA:507
Cardiomyopathy, Familial Hypertrophic, 30, Atrial	Left atrial enlargement, Atrial flutter, Reduced left ventricular ejection fraction, Increased ci...	OMIM:620734
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Buerger Disease	Skin ulcer, Vasculitis, Intermittent claudication, Raynaud phenomenon, Arterial occlusion	ORPHA:36258
Meckel Syndrome, Type 6	Bile duct proliferation, Pulmonary hypoplasia, Cystic liver disease, Absent gallbladder, Hepatic ...	OMIM:612284
Acute Adrenal Insufficiency	Delayed puberty, Hyperkalemia, Orthostatic hypotension, Hyperuricemia, Adrenal hypoplasia, Androg...	ORPHA:95409
Diamond-Blackfan Anemia 11	Unilateral renal agenesis, Anemia of inadequate production, Bone marrow hypocellularity, Bicuspid...	OMIM:614900
Parenteral Nutrition-Associated Cholestasis	Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Chole...	ORPHA:567983
Isolated Biliary Atresia	Decreased liver function, Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentr...	ORPHA:30391
Hypokalemic Tubulopathy And Deafness	Increased circulating renin level, Ataxia, Hyperaldosteronism	OMIM:619406
Polyarteritis Nodosa	Skin ulcer, Pleuritis, Hypertension, Cardiomyopathy, Abnormal lung morphology, Pericarditis, Rayn...	ORPHA:767
Beta-Thalassemia Intermedia	Decreased liver function, Anemia of inadequate production, Splenomegaly, Decreased mean corpuscul...	ORPHA:231222
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Abnormality of the kidney, Perimembranous ventricular septal defect, Muscular ventricular septal ...	ORPHA:363444
Fixed Subaortic Stenosis	Pulmonic stenosis, Abnormal heart morphology, Left ventricular hypertrophy, Bicuspid aortic valve...	ORPHA:3092
Aa Amyloidosis	Acute kidney injury, Enlarged kidney, Abnormality of the kidney, Hepatomegaly, Nephrotic syndrome...	ORPHA:85445
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Hypokalemia, Dysdiadochokinesis, Hypertension, Increased circulating renin level, Ataxia, Hypomag...	OMIM:612780
Protoporphyria, Erythropoietic, 1	Erythema, Cholelithiasis, Eczematoid dermatitis, Hemolytic anemia, Hepatic failure	OMIM:177000
X-Linked Agammaglobulinemia	Chronic otitis media, Skin ulcer, Anemia, Arthritis, Skin rash, Sinusitis, Abnormal lung morpholo...	ORPHA:47
Congenital Bile Acid Synthesis Defect Type 1	Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Gastr...	ORPHA:79301
Beaulieu-Boycott-Innes Syndrome	Recurrent urinary tract infections, Ventricular septal defect, Horseshoe kidney, Unilateral renal...	OMIM:613680
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Autoimmune hemolytic anemia, Lymphadenopathy, Respiratory tract infection, Splenomegaly, Lymphope...	ORPHA:444463
Gitelman Syndrome	Delayed puberty, Prolonged QT interval, Hypokalemia, Hypotension, Increased circulating renin lev...	OMIM:263800
Emanuel Syndrome	Atrial septal defect, Unilateral renal agenesis, Recurrent urinary tract infections, Truncus arte...	OMIM:609029
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Renal hypoplasia/aplasia, Anemia, Hypospadias, Hypoplasia of penis, Ascites, Abnormality of the u...	ORPHA:1046
Hereditary Spherocytosis	Jaundice, Hepatomegaly, Anemia, Cholelithiasis, Spontaneous hemolytic crises, Increased mean corp...	ORPHA:822
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Anorexia, Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:86893
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Renal agenesis, Ectopic kidney, Unilateral renal agenesis	OMIM:601076
Inverted Duplicated Chromosome 15 Syndrome	Ventricular septal defect, Tetralogy of Fallot, Unilateral renal agenesis	ORPHA:3306
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Reduced blood urea nitrogen, Elevated systolic blood pressure, Decreased circulating renin level,...	OMIM:300539
East Syndrome	Difficulty walking, Inability to walk, Hypokalemia, Increased circulating renin level, Ataxia, Hy...	ORPHA:199343
Fanconi Anemia, Complementation Group N	Aplastic anemia, Ectopic kidney, Unilateral renal agenesis, Acute myeloid leukemia, Pelvic kidney...	OMIM:610832
Renal Hypodysplasia/Aplasia 3	Vesicoureteral reflux, Renal agenesis, Hydronephrosis, Renal dysplasia, Multicystic kidney dyspla...	OMIM:617805
Dubin-Johnson Syndrome	Biliary tract abnormality, Jaundice	OMIM:237500
Radial-Renal Syndrome	Ectopic kidney, Unilateral renal agenesis	OMIM:179280
Congenital Disorder Of Glycosylation, Type Iiaa	Hepatomegaly, Unilateral renal agenesis, Cholestasis, Biliary cirrhosis, Hydronephrosis, Nodular ...	OMIM:620454
Apparent Mineralocorticoid Excess	Hypokalemia, Decreased circulating renin level, Hypertension, Left ventricular hypertrophy, Decre...	ORPHA:320
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy	Decreased circulating renin level, Hypertension, Decreased circulating aldosterone level	OMIM:605115
Neutrophilia, Hereditary	Neutrophilia, Splenomegaly	OMIM:162830
Encephalopathy Due To Prosaposin Deficiency	Recurrent respiratory infections, Hepatomegaly, Splenomegaly	ORPHA:139406
Nephronophthisis 2	Chronic tubulointerstitial nephritis, Enlarged kidney, Nephronophthisis, Renal cortical microcyst...	OMIM:602088
Peripartum Cardiomyopathy	Left atrial enlargement, Sinus tachycardia, Hypertension, Left ventricular hypertrophy, Heart mur...	ORPHA:563
Kerion Celsi	Lymphadenopathy	ORPHA:499
Renal Dysplasia	Enlarged kidney, Urinary incontinence, Renal hypoplasia/aplasia, Abnormal nephron morphology, Ure...	ORPHA:93108
Cardiomyopathy, Familial Hypertrophic, 27	Congestive heart failure, Ventricular septal hypertrophy, Prolonged QT interval, Concentric hyper...	OMIM:618052
Bardet-Biedl Syndrome 16	Recurrent respiratory infections, Bronchiolitis, Renal cyst, Renal agenesis, Renal dysplasia, Sta...	OMIM:615993
Mirizzi Syndrome	Jaundice, Elevated circulating hepatic transaminase concentration, Pancreatitis, Cholelithiasis, ...	ORPHA:521219
Pyruvate Kinase Deficiency Of Red Cells	Jaundice, Hepatomegaly, Chronic hemolytic anemia, Cholelithiasis, Reduced red cell pyruvate kinas...	OMIM:266200
Papa Syndrome	Skin ulcer, Increased circulating antibody level, Myositis, Arthritis, Crohn's disease, Pustule, ...	ORPHA:69126
Immunodeficiency 75 With Lymphoproliferation	Follicular hyperplasia, Hepatosplenomegaly, Lymphadenopathy	OMIM:619126
Addison Disease	Delayed puberty, Hyperkalemia, Hypoparathyroidism, Orthostatic hypotension, Hyperuricemia, Adrena...	ORPHA:85138
Cirrhotic Cardiomyopathy	Left atrial enlargement, Prolonged QT interval, Third heart sound, Arrhythmia, Left ventricular h...	ORPHA:57777
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Hypokalemia, Decreased circulating renin level, Hypertension, Neoplasm of the adrenal gland, Gluc...	ORPHA:231625
Cryoglobulinemic Vasculitis	Gastrointestinal hemorrhage, Hepatomegaly, Purpura, Skin ulcer, Petechiae, Vasculitis, Arthritis,...	ORPHA:91138
Immunodeficiency 104	Hepatomegaly, Lymphadenopathy, T lymphocytopenia, Splenomegaly, Pneumonia	OMIM:608971
Ehlers-Danlos Syndrome, Classic-Like, 1	Quadricuspid aortic valve, Vesicoureteral reflux, Unilateral renal agenesis, Mitral valve prolapse	OMIM:606408
Ethanolaminosis	Cardiomegaly	OMIM:227150
Aceruloplasminemia	Limb ataxia, Congestive heart failure, Increased circulating ferritin concentration, Akinesia, De...	ORPHA:48818
Limited Cutaneous Systemic Sclerosis	Skin ulcer, Pulmonary arterial hypertension, Telangiectasia of the skin, Pulmonary fibrosis, Muco...	ORPHA:220402
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Increased circulating ACTH level, Increased circulating androstenedione concentration, Isosexual ...	ORPHA:90795
Carnitine Deficiency, Systemic Primary	Congestive heart failure, Hepatomegaly, Decreased circulating carnitine concentration, Confusion,...	OMIM:212140
Apparent Mineralocorticoid Excess	Decreased circulating renin level, Hypertension, Decreased circulating aldosterone level, Hypokal...	OMIM:218030
Hypocalcemia, Autosomal Dominant 1	Hypokalemia, Hypocalcemia, Increased circulating renin level, Hypomagnesemia, Hyperphosphatemia, ...	OMIM:601198
Amyloidosis, Familial Visceral	Hepatomegaly, Hematuria, Cholestasis, Nephrotic syndrome, Splenomegaly, Proteinuria, Renal amyloi...	OMIM:105200
Fusariosis	Granuloma, Sinusitis, Lymphopenia, Neutropenia, Hypersensitivity pneumonitis, Pneumonia, Osteomye...	ORPHA:228119
Braddock Syndrome	Unilateral renal agenesis, Pulmonary fibrosis	ORPHA:52047
Diffuse Palmoplantar Keratoderma, Bothnian Type	Skin ulcer, Erythema	ORPHA:2337
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy	Abnormal magnesium concentration, Increased serum prostaglandin E2, Increased circulating renin l...	OMIM:241150
Focal Segmental Glomerulosclerosis 7	Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal hypoplasia, Proteinuria, Stage 5 ch...	OMIM:616002
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay	Ectopic kidney, Unilateral renal agenesis, Renal insufficiency, Horseshoe kidney, Vesicoureteral ...	OMIM:617641
Fliedner-Zweier Syndrome	Unilateral renal agenesis, Hydronephrosis, Bicuspid aortic valve, Ventricular septal defect, Mult...	OMIM:620511
Liddle Syndrome 2	Decreased circulating renin level, Hypertension, Decreased circulating aldosterone level, Hypokal...	OMIM:618114
Liddle Syndrome 3	Decreased circulating renin level, Hypertension, Decreased circulating aldosterone level, Hypokal...	OMIM:618126
Granulomatous Slack Skin	Acute kidney injury, Nephrocalcinosis, Abnormal lymph node morphology	ORPHA:33111
Meckel Syndrome, Type 7	Cholestasis, Biliary cirrhosis, Portal hypertension, Bile duct proliferation, Aortic valve stenos...	OMIM:267010
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Delayed puberty, Absence of secondary sex characteristics, Hyperkalemia, Adrenocorticotropic horm...	ORPHA:289548
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Elevated circulating creat...	OMIM:600649
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation	Unilateral renal agenesis	OMIM:206750
Pgm3-Cdg	Chronic otitis media, Decreased proportion of CD3-positive T cells, Reduced antigen-specific T ce...	ORPHA:443811
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Hyperkalemia, Hyponatremia, Hyperaldosteronism, Increased circulating renin level	OMIM:620126
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Limb ataxia, Truncal ataxia, Ventricular hypertrophy, Hyperalaninemia, Tricuspid regurgitation, H...	OMIM:619051
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Delayed puberty, Absence of secondary sex characteristics, Hyperkalemia, Adrenocorticotropic horm...	ORPHA:168558
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Liddle Syndrome 1	Decreased circulating renin level, Hypertension, Decreased circulating aldosterone level, Hypokal...	OMIM:177200
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Decreased liver function, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ...	ORPHA:42
Anemia, Congenital Dyserythropoietic, Type Ii	Jaundice, Cholelithiasis, Anemia of inadequate production, Reticulocytosis, Splenomegaly	OMIM:224100
Bartter Syndrome, Type 3	Hyperchloriduria, Hypokalemia, Hyperactive renin-angiotensin system, Hypotension, Increased circu...	OMIM:607364
Autosomal Recessive Polycystic Kidney Disease	Gastrointestinal hemorrhage, Hypertension, Cholestasis, Biliary hyperplasia, Splenomegaly, Abnorm...	ORPHA:731
Meckel Syndrome, Type 8	Polycystic kidney dysplasia, Enlarged kidney, Hyperechogenic kidneys	OMIM:613885
Takayasu Arteritis	Skin ulcer, Anemia, Inflammatory abnormality of the eye, Vasculitis, Arthritis, Hypertension, Cer...	ORPHA:3287
Adenocarcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99976
Methylmalonic Acidemia With Homocystinuria Type Cblf	Unilateral renal agenesis, Megaloblastic anemia, Abnormal heart morphology, Reduced number of int...	ORPHA:79284
Hemoglobin H Disease	HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia	OMIM:613978
Pyoderma Gangrenosum	Skin ulcer, Increased circulating antibody level, Myositis, Rheumatoid arthritis, Inflammation of...	ORPHA:48104
Tyrosinemia Type 1	Splenomegaly, Hepatomegaly, Hepatocellular carcinoma, Generalized aminoaciduria	ORPHA:882
Idiopathic/Heritable Pulmonary Arterial Hypertension	Hepatomegaly, Abnormal cardiovascular system physiology, Elevated jugular venous pressure, Pulmon...	ORPHA:422
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased proportion of t...	OMIM:615513
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Enlarged kidney, Hepatomegaly, Tubulointerstitial fibrosis, Polycystic kidney dysplasia, Renal cy...	OMIM:263200
Emanuel Syndrome	Atrial septal defect, Unilateral renal agenesis, Truncus arteriosus, Pulmonic stenosis, Renal hyp...	ORPHA:96170
Atrial Septal Defect, Sinus Venosus Type	Congestive heart failure, Atrial flutter, Atrial fibrillation, Supraventricular arrhythmia, Supra...	ORPHA:99105
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Jaundice, Hepatomegaly, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Incr...	OMIM:194380
Pseudohypoaldosteronism, Type Iic	Hyperkalemia, Decreased circulating renin level, Hypertension, Pseudohypoaldosteronism, Hyperchlo...	OMIM:614492
Familial Atrial Myxoma	Congestive heart failure, Jaundice, Bacterial endocarditis, Cardiac myxoma, Tricuspid regurgitati...	ORPHA:615
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Pancytopenia	OMIM:183350
Chopra-Amiel-Gordon Syndrome	Unilateral renal agenesis	OMIM:619504
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Unilateral renal agenesis, Vesicoureteral reflux, Secundum atrial septal defect, Micropenis, Leuk...	OMIM:619951
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Pseudobulbar paralysis, Abnormal fear-induced behavior, Aggressive behavior	ORPHA:208441
Acute Radiation Syndrome	Scaling skin, Skin ulcer, Hypotension, Thrombocytopenia, Inflammatory abnormality of the skin, Ly...	ORPHA:454831
Congenitally Uncorrected Transposition Of The Great Arteries	Abnormal QRS complex, Abnormality of blood circulation, Abnormal mitral valve morphology, Heart m...	ORPHA:860
Proliferating Trichilemmal Cyst	Skin ulcer	ORPHA:492
Benign Recurrent Intrahepatic Cholestasis	Cholestatic liver disease, Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concent...	ORPHA:65682
Primary Unilateral Adrenal Hyperplasia	Hypokalemia, Decreased circulating renin level, Hypertension, Glucocortocoid-insensitive primary ...	ORPHA:231580
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Jaundice, Cholelithiasis, Normochromic anemia, Nonspherocytic hemolytic anemia...	OMIM:235700
Bladder Exstrophy And Epispadias Complex	Epispadias, Hydroureter, Unilateral renal agenesis, Bladder exstrophy, Horseshoe kidney	OMIM:600057
Uruguay Faciocardiomusculoskeletal Syndrome	Left atrial enlargement, Difficulty walking, Elevated circulating hepatic transaminase concentrat...	OMIM:300280
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia	Micropenis, Unilateral renal agenesis	OMIM:244200
Autoimmune Lymphoproliferative Syndrome, Type Iii	Autoimmune hemolytic anemia, Stage 5 chronic kidney disease, Hepatomegaly, Mediastinal lymphadeno...	OMIM:615559
Neutrophilic Dermatosis, Acute Febrile	Small vessel vasculitis, Panniculitis, Anemia, Erythema, Cystic acne, Dilated cardiomyopathy, Pyo...	OMIM:608068
Dermatofibrosarcoma Protuberans	Skin ulcer, Erythema	ORPHA:31112
Immunodeficiency 108 With Autoinflammation	Impaired neutrophil chemotaxis, Epistaxis, Recurrent aphthous stomatitis, Hyposegmentation of neu...	OMIM:260570
Protoporphyria, Erythropoietic, X-Linked	Elevated circulating hepatic transaminase concentration, Iron deficiency anemia, Cholelithiasis	OMIM:300752
Autosomal Dominant Severe Congenital Neutropenia	Aplastic anemia, Pyoderma gangrenosum, Acute myeloid leukemia, Recurrent aphthous stomatitis, Per...	ORPHA:486
Cystic Echinococcosis	Cholestatic liver disease, Jaundice, Elevated circulating hepatic transaminase concentration, Hep...	ORPHA:400
Attrv122I Amyloidosis	Abnormal atrioventricular conduction, Congestive heart failure, Increased circulating NT-proBNP c...	ORPHA:85451
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Nephroblastoma, Enlarged kidney	OMIM:618272
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Delayed puberty, Absence of secondary sex characteristics, Precocious puberty in females, Hyperte...	ORPHA:90793
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Pulmonary insufficiency, Jaundice, Hepatic fibrosis, Polycystic liver disease, Bile duct prolifer...	OMIM:208500
Williams-Beuren Region Duplication Syndrome	Hydronephrosis, Unilateral renal agenesis	OMIM:609757
Mu-Heavy Chain Disease	Hepatomegaly, Anemia, Lymphadenopathy, Bence Jones Proteinuria, Splenomegaly, Abnormal B cell cou...	ORPHA:100024
Reynolds Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Skin ulcer, Arthritis, Skin rash, Telangiectasia of the skin, ...	ORPHA:779
Hardikar Syndrome	Decreased liver function, Hematemesis, Elevated circulating hepatic transaminase concentration, I...	OMIM:301068
Danon Disease	Congestive heart failure, Wolff-Parkinson-White syndrome, Cardiomegaly, Atrial arrhythmia, Myocar...	OMIM:300257
Cholestasis, Progressive Familial Intrahepatic, 9	Jaundice, Intrahepatic cholestasis, Hepatomegaly, Fibro-obliterative bile-duct lesion, Portal hyp...	OMIM:619849
Hemoglobin D Disease	Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ...	ORPHA:90039
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Renal cortical adenoma, Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy, Pa...	ORPHA:97290
Chediak-Higashi Syndrome	Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Periodontitis, Spontaneous, recurrent epistaxis...	OMIM:214500
Renal Cysts And Diabetes Syndrome	Abnormality of the kidney, Hypospadias, Unilateral renal agenesis, Multiple glomerular cysts, Abn...	OMIM:137920
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Anemia, Unilateral renal agenesis, Pancytopenia, Vesicoureteral reflux, Ventricular hypertrophy, ...	OMIM:620654
Galactosemia Iii	Jaundice, Hepatomegaly, Galactosuria, Splenomegaly, Aminoaciduria	OMIM:230350
Hyperaldosteronism, Familial, Type Iii	Hypokalemia, Decreased circulating renin level, Hypertension, Adrenal hyperplasia, Hyperaldostero...	OMIM:613677
Ectopic Aldosterone-Producing Tumor	Hypokalemia, Decreased circulating renin level, Hypertension, Glucocortocoid-insensitive primary ...	ORPHA:231632
Laryngeal Neuroendocrine Tumor	Anorexia, Chronic noninfectious lymphadenopathy, Oral-pharyngeal dysphagia	ORPHA:100083
Squamous Cell Carcinoma Of The Anal Canal	Neoplasm of the liver, Skin ulcer, Neoplasm of the lung, Intestinal bleeding	ORPHA:424019
Alpha-1-Antitrypsin Deficiency	Cirrhosis, Panacinar emphysema, Hepatocellular carcinoma, Splenomegaly, Bronchiectasis, Chronic b...	OMIM:613490
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14	Presyncope, Left bundle branch block, Palpitations, Premature ventricular contraction, Ventricula...	OMIM:618920
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Anorexia, Irritability, Abnormal fear-induced behavior, Broad-based gait, Hyperactivity, Shufflin...	ORPHA:3077
Aggressive Systemic Mastocytosis	Decreased liver function, Gastrointestinal hemorrhage, Anemia, Increased proportion of CD25+ mast...	ORPHA:98850
Microscopic Polyangiitis	Congestive heart failure, Gastrointestinal hemorrhage, Skin ulcer, Pancreatitis, Vasculitis, Skin...	ORPHA:727
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Anemia, Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Renal hypoplasia, Renal ...	OMIM:613092
Atrial Fibrillation, Familial, 10	Paroxysmal atrial fibrillation, Left atrial enlargement, Atrial flutter, Bradycardia, Permanent a...	OMIM:614022
Cardiomyopathy, Familial Hypertrophic, 4	Congestive heart failure, Ventricular septal hypertrophy, Muscular ventricular septal defect, Lef...	OMIM:115197
Alagille Syndrome 2	Cholestatic liver disease, Hematuria, Renal tubular acidosis, Cholestasis, Renal cyst, Pulmonic s...	OMIM:610205
Combined Oxidative Phosphorylation Deficiency 8	Cardiomegaly, Congestive heart failure, Hypertrophic cardiomyopathy, Reduced left ventricular eje...	OMIM:614096
Niemann-Pick Disease, Type B	Abnormal pulmonary interstitial morphology, Sea-blue histiocytosis, Anemia, Hepatomegaly, Bone-ma...	OMIM:607616
Neonatal Severe Primary Hyperparathyroidism	Aminoaciduria, Hepatomegaly, Splenomegaly	ORPHA:417
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome	Akinesia, Gait imbalance, Falls, Freezing of gait, Unsteady gait, Loss of ambulation, Dementia, S...	ORPHA:240094
Galactose Epimerase Deficiency	Aminoaciduria, Jaundice, Splenomegaly, Hepatomegaly	ORPHA:79238
Congenital Anomalies Of Kidney And Urinary Tract 3	Ectopic kidney, Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis, Multicystic kidney dyspl...	OMIM:618270
Crigler-Najjar Syndrome Type 1	Abnormality of the liver, Biliary tract abnormality, Prolonged neonatal jaundice	ORPHA:79234
Timothy Syndrome	Pneumonia, Prolonged QT interval, Cardiomegaly, Bradycardia, Hypocalcemia, Patent foramen ovale, ...	OMIM:601005
Fraser Syndrome 2	Unilateral renal agenesis, Bilateral renal agenesis, Aplasia of the bladder, Hypoplasia of the th...	OMIM:617666
Hemochromatosis, Type 1	Congestive heart failure, Increased circulating ferritin concentration, Hepatomegaly, Elevated ci...	OMIM:235200
Adams-Oliver Syndrome 6	Truncus arteriosus, Portal hypertension, Renal hypoplasia, Splenomegaly, Hepatic fibrosis, Ventri...	OMIM:616589
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis	OMIM:118830
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Panniculitis, Hepatosplenomegaly, Hemophagocytosis, Skin ulcer	ORPHA:86884
Mucopolysaccharidosis-Plus Syndrome	Enlarged kidney, Hepatomegaly, Inability to walk, Focal segmental glomerulosclerosis, Nephrotic s...	OMIM:617303
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Mediastinal lymphadenopathy, Lymphadenopathy, Recurrent respiratory infections, Recurrent bronchi...	OMIM:300853
Short Stature, Microcephaly, And Endocrine Dysfunction	Anemia, Unilateral renal agenesis, Ectopic kidney, Renal hypoplasia, Lymphopenia, Dilated cardiom...	OMIM:616541
Lethal Congenital Contracture Syndrome 2	Akinesia, Dilated cardiomyopathy, Ventricular septal defect	OMIM:607598
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia	Foot osteomyelitis, Skin ulcer, Acral ulceration	ORPHA:139578
Autosomal Dominant Polycystic Kidney Disease	Enlarged kidney, Hematuria, Decreased glomerular filtration rate, Calcium oxalate nephrolithiasis...	ORPHA:730
Houge-Janssens Syndrome 2	Unilateral renal agenesis	OMIM:616362
Multicystic Dysplastic Kidney	Enlarged kidney, Unilateral renal agenesis, Ureterovesical junction obstruction, Vesicoureteral r...	ORPHA:1851
Bare Lymphocyte Syndrome, Type Ii	Cholangitis, Recurrent lower respiratory tract infections, Panhypogammaglobulinemia, Colitis, Chr...	OMIM:209920
Acquired Purpura Fulminans	Macular purpura, Skin rash, Internal hemorrhage, Hepatic failure, Thrombocytopenia, Intracranial ...	ORPHA:49566
Arterial Calcification, Generalized, Of Infancy, 2	Congestive heart failure, Hypophosphatemic rickets, Reduced left ventricular ejection fraction, S...	OMIM:614473
Classic Hodgkin Lymphoma	Anorexia, Hepatomegaly, Lymphadenopathy, Bone marrow hypocellularity, Ataxia, Splenomegaly	ORPHA:391
Inflammatory Pseudotumor Of The Liver	Cirrhosis, Increased hepatitis B virus antibody level, Elevated circulating alanine aminotransfer...	ORPHA:90003
Immunodeficiency 76	Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Recurrent pneumonia, Splenomegaly, Lymphop...	OMIM:619164
Nephronophthisis 13	Nephronophthisis, Glomerular sclerosis, Multilamellation of medullary peritubular capillary basem...	OMIM:614377
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Abnormal pulmonary interstitial morphology, Anemia, Lymphadenopathy, Hemophagocytosis, Recurrent ...	OMIM:613101
Congenital Factor Xii Deficiency	Penetrating foot ulcers	ORPHA:330
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis	Cutaneous mastocytosis	ORPHA:280794
Wiskott-Aldrich Syndrome	Hematemesis, Chronic otitis media, Abnormal platelet function, Sinusitis, Epistaxis, Hematochezia...	ORPHA:906
Proteasome-Associated Autoinflammatory Syndrome 5	Hepatomegaly, Splenomegaly	OMIM:619175
Spinocerebellar Ataxia Type 27	Limb ataxia, Akinesia, Difficulty walking, Memory impairment, Truncal ataxia, Gait disturbance, G...	ORPHA:98764
Shashi-Pena Syndrome	Atrial septal defect, Unilateral renal agenesis	OMIM:617190
Dominant Beta-Thalassemia	Splenomegaly, Decreased mean corpuscular volume, High-output congestive heart failure, Jaundice, ...	ORPHA:231226
Chédiak-Higashi Syndrome	Decreased liver function, Elevated circulating hepatic transaminase concentration, Abnormal leuko...	ORPHA:167
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mastocytosis	ORPHA:66661
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Hepatomegaly, Abnormality of the urinary system, Splenomegaly, Aplasia/Hypoplasia of the lungs	ORPHA:2204
Autoinflammation With Episodic Fever And Lymphadenopathy	Splenomegaly, Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis	OMIM:618852
Sweet Syndrome	Small vessel vasculitis, Anemia, Acute myeloid leukemia, Panniculitis, Chronic lymphatic leukemia...	ORPHA:3243
Combined Immunodeficiency-Enteropathy Spectrum	Autoimmune hemolytic anemia, Rectal abscess, Peritoneal abscess, Hypoplasia of the thymus, Congen...	ORPHA:436252
Immunodeficiency 48	Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Splenomegaly, Abnormal ...	OMIM:269840
Kaposiform Lymphangiomatosis	Enlarged kidney, Abnormality of the lymphatic system, Abnormal spleen morphology, Abnormal lympha...	ORPHA:464329
Granulomatosis With Polyangiitis	Chronic otitis media, Skin ulcer, Pleuritis, Localized pulmonary hemorrhage, Retinal hemorrhage, ...	OMIM:608710
Takenouchi-Kosaki Syndrome	Unilateral renal agenesis, Hypospadias, Pulmonic stenosis, Increased mean platelet volume, Hydron...	OMIM:616737
Cholestasis, Progressive Familial Intrahepatic, 12	Jaundice, Hepatomegaly, Cholestasis, Proteinuria, Splenomegaly	OMIM:620010
Leprechaunism	Postnatal growth retardation, Enlarged kidney, Hepatomegaly, Hyperinsulinemia, Hypokalemia, Hyper...	ORPHA:508
Meckel Syndrome, Type 5	Bile duct proliferation	OMIM:611561
Immunodeficiency 52	Lymphadenopathy, Abnormal natural killer cell count, T lymphocytopenia, Bronchiectasis, Recurrent...	OMIM:617514
Gcgr-Related Hyperglucagonemia	Neoplasm of the pancreas, Cholelithiasis, Abnormal biliary tract morphology	ORPHA:438274
Congenital Myopathy 8	Cardiomegaly, Congestive heart failure	OMIM:618654
Diarrhea 1, Secretory Chloride, Congenital	Hypokalemia, Hyperactive renin-angiotensin system, Hypochloremia, Increased circulating renin lev...	OMIM:214700
Alpha-Thalassemia	Anisopoikilocytosis, Congestive heart failure, Hemoglobin Barts, Jaundice, Anemia, Cholelithiasis...	ORPHA:846
Mayer-Rokitansky-Küster-Hauser Syndrome	Abnormality of the kidney, Unilateral renal agenesis, Ectopic kidney, Pulmonic stenosis, Atrial s...	ORPHA:3109
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E...	OMIM:603902
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Renal agenesis, Muscular ventricular septal defect, Unilateral renal agenesis	OMIM:619227
Renal-Hepatic-Pancreatic Dysplasia 2	Enlarged kidney, Hepatomegaly, Cystic renal dysplasia, Asplenia	OMIM:615415
Branchiootorenal Syndrome 1	Renal steatosis, Abnormal renal collecting system morphology, Unilateral renal agenesis, Polycyst...	OMIM:113650
Persistent Polyclonal B-Cell Lymphocytosis	Lymphocytosis, Hepatomegaly, Splenomegaly	OMIM:606445
Erythroleukemia, Familial, Susceptibility To	Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplas...	OMIM:133180
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Elevated circulating hepatic transaminase concentration, Skin rash, Hypertension, Bone marrow hyp...	OMIM:615688
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Lymphadenopathy, Recurrent respiratory infections, Decreased proportion of class-sw...	OMIM:619375
Ras-Associated Autoimmune Leukoproliferative Disorder	Hepatomegaly, Recurrent respiratory infections, Pancytopenia, Lymphocytosis, Splenomegaly, Hemoly...	OMIM:614470
Joubert Syndrome 6	Hepatic fibrosis, Bile duct proliferation	OMIM:610688
Bifid Nose With Or Without Anorectal And Renal Anomalies	Renal agenesis, Ebstein anomaly of the tricuspid valve, Unilateral renal agenesis	OMIM:608980
Refsum Disease, Classic	Congestive heart failure, Reduced phytanic acid oxidase activity in cultured fibroblasts, Cardiom...	OMIM:266500
Bartter Syndrome, Type 1, Antenatal	Hyperchloriduria, Hypokalemia, Hyperactive renin-angiotensin system, Hypochloremia, Low-to-normal...	OMIM:601678
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Wolff-Parkinson-White syndrome, Broad-based gait, Crohn's disease, Hypertrophic cardiomyopathy, T...	OMIM:619705
Intussusception	Intussusception	OMIM:147710
Immunodeficiency 109 With Lymphoproliferation	Recurrent lower respiratory tract infections, Pancytopenia, Recurrent sinusitis, Splenomegaly, Br...	OMIM:620282
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Enlarged kidney, Ureteral duplication, Hepatomegaly, Long-chain dicarboxylic aciduria, Polycystic...	OMIM:608836
Klippel-Feil Syndrome 1, Autosomal Dominant	Abnormality of the kidney, Unilateral renal agenesis	OMIM:118100
Leukocyte Adhesion Deficiency	Perianal abscess, Severe periodontitis, Impaired platelet aggregation, Sinusitis, Bone marrow hyp...	ORPHA:2968
Sarcoidosis, Susceptibility To, 2	Pneumothorax, Abnormal pulmonary interstitial morphology, Hepatomegaly, Mediastinal lymphadenopat...	OMIM:612387
Isolated Right Ventricular Hypoplasia	Abnormal atrioventricular conduction, Congestive heart failure, Bidirectional shunt, Muscular ven...	ORPHA:439
Kallmann Syndrome With Spastic Paraplegia	Micropenis, Unilateral renal agenesis	OMIM:308750
Hyperbilirubinemia, Shunt, Primary	Jaundice, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Splenomegaly, Erythroid...	OMIM:237800
Free Sialic Acid Storage Disease	Recurrent respiratory infections, Hepatomegaly, Splenomegaly, Skin ulcer	ORPHA:834
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Gastrointestinal hemorrhage, Portal hypertension, Biliary trac...	ORPHA:1414
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Tachycardia, Chroni...	ORPHA:98849
Congenital Anomalies Of Kidney And Urinary Tract 2	Hydroureter, Congenital megaureter, Renal hypoplasia, Ureteropelvic junction obstruction, Hydrone...	OMIM:143400
Long-Olsen-Distelmaier Syndrome	Congestive heart failure, Elevated circulating alanine aminotransferase concentration, Hyperammon...	OMIM:620609
Immunodeficiency 16	Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia	OMIM:615593
Beta-Thalassemia Major	Anemia of inadequate production, Splenomegaly, Decreased mean corpuscular volume, High-output con...	ORPHA:231214
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:231393
Immunodeficiency, Common Variable, 1	Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, B lymphocyt...	OMIM:607594
Combined Oxidative Phosphorylation Deficiency 37	Decreased liver function, Elevated circulating hepatic transaminase concentration, Macrovesicular...	OMIM:618329
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Unilateral renal agenesis, Polycystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Ab...	ORPHA:2237
Paternal Uniparental Disomy Of Chromosome 1	Enlarged kidney, Polyphagia, Macroscopic hematuria, Proteinuria, Membranoproliferative glomerulon...	ORPHA:251004
Pleural Mesothelioma	Hepatomegaly, Lymphadenopathy, Dysphagia	ORPHA:50251
Bartter Syndrome, Type 5, Antenatal, Transient	Increased circulating renin level, Hyponatremia, Hypochloremia, Hypokalemia	OMIM:300971
Attrv30M Amyloidosis	Atrioventricular block, Cardiomyopathy, Cardiomegaly, Arrhythmia	ORPHA:85447
Complete Atrioventricular Septal Defect	Third heart sound, Left-to-right shunt, Cardiomegaly, Pulmonary venous hypertension, Abnormal car...	ORPHA:1329
Acrogeria	Skin ulcer, Excessive wrinkled skin, Telangiectasia of the skin	ORPHA:2500
Hemochromatosis, Type 2B	Cirrhosis, Hepatomegaly, Anemia, Cardiomyopathy, Splenomegaly, Hepatic fibrosis	OMIM:613313
Familial Papillary Or Follicular Thyroid Carcinoma	Papillary renal cell carcinoma, Abnormal lymph node morphology, Chronic noninfectious lymphadenop...	ORPHA:319487
Primary Sjögren Syndrome	Increased circulating antibody level, Normochromic anemia, Bronchitis, Optic neuritis, Biliary ci...	ORPHA:289390
Hyperbiliverdinemia	Decreased liver function, Cholestasis, Cholelithiasis	OMIM:614156
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hyperalaninemia, Pulmonary...	OMIM:619064
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Enlarged kidney, Enlarged polycystic ovaries	ORPHA:90301
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency	Chronic otitis media, Skin ulcer, Atelectasis, Skin vesicle, Increased circulating IgE level, Ski...	ORPHA:2314
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Recurrent urinary tract infections, S...	OMIM:618495
Follicular Lymphoma	Mediastinal lymphadenopathy, Lymphadenopathy, Abnormal peritoneum morphology, Pleural effusion, S...	ORPHA:545
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Hepatomegaly, Recurrent urinary tract infections, Leukopenia, Splenomegaly, Lymphopenia, Recurren...	OMIM:620210
Hereditary Elliptocytosis	Jaundice, Skin ulcer, Cholelithiasis, Reticulocytosis, Poikilocytosis, Prolonged neonatal jaundic...	ORPHA:288
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Cardiomegaly, Congestive heart failure	OMIM:300886
Atrial Septal Defect, Ostium Secundum Type	Left-to-right shunt, Abnormal mitral valve morphology, Right ventricular dilatation, Supraventric...	ORPHA:99103
Liver Disease, Severe Congenital	Elevated circulating hepatic transaminase concentration, Lymphocytosis, Biliary hyperplasia, Leuk...	OMIM:619991
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Reduced tissue alpha-N-acetylglucosaminidase activity, Asymmetric septal hypertroph...	OMIM:252920
Diaphanospondylodysostosis	Enlarged kidney, Nephroblastomatosis, Nephrogenic rest, Horseshoe kidney, Cystic renal dysplasia	OMIM:608022
Cranioectodermal Dysplasia 2	Hepatomegaly, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Cholangit...	OMIM:613610
Meckel Syndrome, Type 2	Bile duct proliferation	OMIM:603194
Juvenile Dermatomyositis	Gastrointestinal hemorrhage, Skin ulcer, Angina pectoris, Vasculitis, Skin rash, Arthritis, Cardi...	ORPHA:93672
Immunodeficiency 64 With Lymphoproliferation	Autoimmune hemolytic anemia, Cervical lymphadenopathy, Mediastinal lymphadenopathy, Lymphadenopat...	OMIM:618534
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Fetal ascites, Hepatomegaly, Splenomegaly	OMIM:619462
Neuropathy, Hereditary Sensory, Type Iic	Acral ulceration	OMIM:614213
Infantile Sialic Acid Storage Disease	Congestive heart failure, Hepatomegaly, Splenomegaly, Conjugated hyperbilirubinemia, Cardiomegaly	OMIM:269920
Rhabdoid Tumor	Irritability, Renal neoplasm, Hematuria, Lymphadenopathy	ORPHA:69077
Atrial Septal Defect, Ostium Primum Type	Left atrial enlargement, Third heart sound, Left ventricular hypertrophy, Right ventricular dilat...	ORPHA:99106
Immunodeficiency, Common Variable, 2	Hepatomegaly, Lymphadenopathy, Recurrent bronchitis, Abnormal T cell count, Recurrent sinusitis, ...	OMIM:240500
Congenital Pulmonary Lymphangiectasia	Hepatomegaly, Chylopericardium, Pleural effusion, Ascites, Pulmonic stenosis, Splenomegaly	ORPHA:2414
Hurler-Scheie Syndrome	Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Cardiomyopathy, Spleno...	ORPHA:93476
Cholestasis, Progressive Familial Intrahepatic, 1	Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis with episodic jaundic...	OMIM:211600
Bartter Syndrome, Type 2, Antenatal	Hyperchloriduria, Hypokalemia, Hyperactive renin-angiotensin system, Hypochloremia, Low-to-normal...	OMIM:241200
Disabling Pansclerotic Morphea Of Childhood	Skin ulcer, Neutropenia, Lymphopenia	OMIM:620443
Hyperparathyroidism, Transient Neonatal	Enlarged kidney, Unilateral renal agenesis, Splenic cyst	OMIM:618188
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Increased circulating androstenedione concentration, Precocious puberty in males, Elevated serum ...	OMIM:202010
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly, Hypoalbuminemia, Congenital hypothyroidism, Colitis	ORPHA:88643
Immunodeficiency 27A	Anorexia, Lymphadenopathy, Hepatosplenomegaly, Splenomegaly, Enlarged mesenteric lymph node	OMIM:209950
Neurooculorenal Syndrome	Unilateral renal agenesis, Dextrocardia, Tetralogy of Fallot with pulmonary stenosis, Bilateral r...	OMIM:620305
Legionnaires Disease	Myocarditis, Jaundice, Pancreatitis, Lymphadenopathy, Hematuria, Renal insufficiency, Recurrent p...	ORPHA:549
Lymphoid Interstitial Pneumonia	Enlarged kidney, Hepatomegaly, Mediastinal lymphadenopathy	ORPHA:79128
Spinocerebellar Ataxia 21	Limb ataxia, Akinesia, Progressive cerebellar ataxia, Gait ataxia, Cognitive impairment, Ataxia, ...	OMIM:607454
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Unilateral renal agenesis	ORPHA:1064
Atrial Septal Defect, Coronary Sinus Type	Presyncope, Pneumonia, Increased pulmonary vascular resistance, Supraventricular arrhythmia, Tran...	ORPHA:99104
Cockayne Syndrome Type 3	Hepatomegaly, Hydroureter, Unilateral renal agenesis, Neurogenic bladder, Cardiomyopathy, Renal h...	ORPHA:90324
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Hypospadias, Unilateral renal agenesis, Abnormality of the lymphatic system, Total anomalous pulm...	ORPHA:487796
Congenital Disorder Of Glycosylation, Type It	Delayed puberty, Decreased serum insulin-like growth factor 1, Hepatomegaly, Elevated circulating...	OMIM:614921
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Anemia, Pancreatitis, Cardiomyopathy, Thrombocytopenia, Splenomegaly, Renal insuffi...	ORPHA:79312
Mitochondrial Complex I Deficiency, Nuclear Type 39	Cardiomegaly, Atrial septal defect, Perimembranous ventricular septal defect, Hypertrophic cardio...	OMIM:620135
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Lymphadenopathy	OMIM:617772
Smith-Lemli-Opitz Syndrome	Cholestatic liver disease, Abnormal lung lobation, Cirrhosis, Hepatomegaly, Penoscrotal hypospadi...	OMIM:270400
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Congestive heart failure, Steppage gait, Atrial flutter, Inability to walk, Abnormal atrioventric...	ORPHA:324410
Cholestasis, Benign Recurrent Intrahepatic, 2	Jaundice, Intrahepatic cholestasis, Cholelithiasis, Hepatomegaly	OMIM:605479
Kimura Disease	Follicular hyperplasia, Lymphadenopathy	ORPHA:482
Spinocerebellar Ataxia Type 21	Gait ataxia, Akinesia, Progressive cerebellar ataxia, Cognitive impairment	ORPHA:98773
Meckel Syndrome, Type 4	Bile duct proliferation	OMIM:611134
Granulomatosis With Polyangiitis	Chronic otitis media, Gastrointestinal hemorrhage, Inflammatory abnormality of the eye, Skin rash...	ORPHA:900
Spherocytosis, Type 1	Jaundice, Cholelithiasis, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:182900
Gallbladder Disease 4	Cholelithiasis	OMIM:611465
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Micropenis, Unilateral renal agenesis	OMIM:308700
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome	Skin ulcer, Osteomyelitis	ORPHA:2218
Retinitis Pigmentosa 89	Intrahepatic bile duct dilatation, Hepatosplenomegaly, Hepatic fibrosis, Micronodular cirrhosis	OMIM:618955
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency	Purpura, Pulmonary embolism, Skin ulcer	ORPHA:743
Rajab Interstitial Lung Disease With Brain Calcifications 1	Decreased liver function, Abnormal pulmonary interstitial morphology, Cirrhosis, Elevated circula...	OMIM:613658
Simple Cryoglobulinemia	Congestive heart failure, Gastrointestinal hemorrhage, Monoclonal elevation of IgG, Purpura, Acra...	ORPHA:91139
Carnitine Palmitoyltransferase I Deficiency	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Transient hyperlipidemia, ...	OMIM:255120
Igg4-Related Kidney Disease	Urethritis, Acute kidney injury, Enlarged kidney, Hematuria, Lymphadenopathy, Renal interstitial ...	ORPHA:449395
Lymphoproliferative Syndrome 3	Hepatosplenomegaly, Lymphadenopathy	OMIM:618261
Symptomatic Form Of Hfe-Related Hemochromatosis	Congestive heart failure, Increased circulating ferritin concentration, Hepatomegaly, Abnormality...	ORPHA:465508
Alpha-Heavy Chain Disease	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:100025
Catastrophic Antiphospholipid Syndrome	Myocarditis, Myocardial infarction, Skin ulcer, Angina pectoris, Arthritis, Transient ischemic at...	ORPHA:464343
Congenital Toxoplasmosis	Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cognitive impair...	ORPHA:858
Aplasia Cutis Congenita	Skin ulcer, Erythema	ORPHA:1114
Serkal Syndrome	Hypospadias, Ventricular septal defect, Renal agenesis, Pulmonic stenosis, Pulmonary hypoplasia, ...	ORPHA:139466
Aorta Coarctation	Congestive heart failure, Perimembranous ventricular septal defect, Cardiomegaly, Aortic valve at...	ORPHA:1457
Primary Sclerosing Cholangitis	Elevated circulating hepatic transaminase concentration, Neoplasm of the gallbladder, Spider hema...	ORPHA:171
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Acute myelomonocytic leukemia, Hypopl...	ORPHA:2585
Nager Syndrome	Unilateral renal agenesis	ORPHA:245
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Unilateral renal agenesis, B lymphocytopenia, Recurrent urinary tract infections, Decreased propo...	ORPHA:221139
H Syndrome	Abnormality of the kidney, Enlarged kidney, Lymphadenopathy, Hepatosplenomegaly, Micropenis	ORPHA:168569
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hepatomegaly, Abnormal circulating enzyme concentration or activity, Left ventricular outflow tra...	ORPHA:308552
Microphthalmia, Syndromic 9	Renal malrotation, Multilobulated spleen, Bilateral lung agenesis, Hypoplastic left atrium, Pelvi...	OMIM:601186
Neurooculocardiogenitourinary Syndrome	Patent foramen ovale, Tricuspid regurgitation, Patent ductus arteriosus, Cardiomegaly, Atrial sep...	OMIM:618652
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Hepatomegaly, Cholelithiasis, B lymphocytopenia, Seborrheic dermatitis, Pancreatic hypoplasia, Su...	ORPHA:83617
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Coronary artery fistula, Atrial septal defect, Ventricular septal defect, Unilateral renal agenesis	OMIM:620024
Combined Oxidative Phosphorylation Deficiency 10	Bradycardia, Hyperalaninemia, Hypertrophic cardiomyopathy, Pericardial effusion, Hyperammonemia, ...	OMIM:614702
Glycogen Storage Disease Ib	Enlarged kidney, Hepatomegaly, Decreased glomerular filtration rate, Nephrolithiasis, Focal segme...	OMIM:232220
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Reduced left ventricular ejection fraction, Decreased circulating carnitine concent...	OMIM:201475
Hemochromatosis, Type 2A	Cirrhosis, Hepatomegaly, Cardiomyopathy, Splenomegaly, Dilated cardiomyopathy	OMIM:602390
Lichen Planopilaris	Skin ulcer, Hepatitis	ORPHA:525
Sea-Blue Histiocyte Disease	Cirrhosis, Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly	OMIM:269600
Dehydrated Hereditary Stomatocytosis	Cholelithiasis, Macrocytic anemia, Increased mean corpuscular hemoglobin concentration, Increased...	ORPHA:3202
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13	First degree atrioventricular block, Right ventricular dilatation, Ventricular tachycardia, Left ...	OMIM:615616
D-Bifunctional Protein Deficiency	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cholestasis, Bile duct pro...	OMIM:261515
Attenuated Chédiak-Higashi Syndrome	Recurrent respiratory infections, Skin ulcer, Epistaxis	ORPHA:352723
Red Cell Phospholipid Defect With Hemolysis	Intermittent jaundice, Splenomegaly, Reticulocytosis	OMIM:179700
Harderoporphyria	Hepatomegaly, Increased urine harderoporphyrin level, Increased urinary porphobilinogen, Red urin...	OMIM:618892
Naxos Disease	Congestive heart failure, Right ventricular cardiomyopathy, Cardiomegaly, Paroxysmal ventricular ...	OMIM:601214
Neuraminidase Deficiency	Hepatomegaly, Vacuolated lymphocytes, Bone-marrow foam cells, Cardiomyopathy, Ascites, Urinary ex...	OMIM:256550
Meacham Syndrome	Abnormal lung lobation, Situs inversus totalis, Transposition of the great arteries, Hypoplasia o...	ORPHA:3097
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Unilateral renal agenesis, Abnormal cardiac septum morphology, Hydronephrosis, Pulmonary hypoplas...	OMIM:308050
Hypocomplementemic Urticarial Vasculitis	Glomerulopathy, Hepatomegaly, Hematuria, Lymphadenopathy, Emphysema, Abnormal heart valve morphol...	ORPHA:36412
Immunodeficiency 69	Anemia, Hemophagocytosis, Pancytopenia, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Thrombocy...	OMIM:618963
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Enlarged kidney, Hydronephrosis, Urethral atresia	OMIM:314390
Diffuse Cutaneous Systemic Sclerosis	Congestive heart failure, Skin ulcer, Arthritis, Hypertensive crisis, Pulmonary arterial hyperten...	ORPHA:220393
Felty Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Recurrent pharyngitis, Pleuritis, Recurrent urinary tract ...	ORPHA:47612
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Fluctuating splenomegaly, Lymphadenopathy	OMIM:619220
Niemann-Pick Disease, Type A	Irritability, Hepatomegaly, Lymphadenopathy, Inability to walk, Athetosis, Splenomegaly	OMIM:257200
Pseudo-Torch Syndrome 3	Hypertension, Lymphadenitis, Cerebral hemorrhage, Cardiomegaly, Increased circulating ferritin co...	OMIM:618886
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Unilateral renal agenesis, Hypospadias, Pelvic kidney, Renal cyst, Aortic valve stenosis, Hydrone...	ORPHA:464311
Splenoportal Vascular Anomalies	Cirrhosis, Anomalous splenoportal venous system, Ascites, Splenomegaly, Hepatic fibrosis	OMIM:271500
Cutis Laxa, Autosomal Dominant 3	Unilateral renal agenesis	OMIM:616603
Glycogen Storage Disease Ii	Wolff-Parkinson-White syndrome, Hepatomegaly, Difficulty walking, Increased circulating NT-proBNP...	OMIM:232300
Corticobasal Syndrome	Gait disturbance, Akinesia, Dementia, Memory impairment	ORPHA:454887
Activated Pi3K-Delta Syndrome	Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, B lymphocytopenia, Bronchiectasis, Recurren...	ORPHA:397596
Immunodeficiency 22	Chronic oral candidiasis, Anemia, Recurrent lower respiratory tract infections, Decreased circula...	OMIM:615758
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Limb ataxia, Congestive heart failure, Truncal ataxia, Cardiomyopathy, Gait disturbance, Gait ata...	OMIM:619259
Gaucher Disease Type 1	Abnormal pulmonary interstitial morphology, Cirrhosis, Hepatomegaly, Increased circulating antibo...	ORPHA:77259
Acrocephalopolydactylous Dysplasia	Enlarged kidney, Hepatomegaly, Polysplenia, Cystic renal dysplasia	OMIM:200995
Pentalogy Of Cantrell	Hypospadias, Renal dysplasia, Renal agenesis, Abnormal pericardium morphology, Pulmonary hypoplas...	ORPHA:1335
Toxic Epidermal Necrolysis	Gastrointestinal hemorrhage, Skin ulcer, Pancreatitis, Elevated circulating hepatic transaminase ...	ORPHA:537
Hemophagocytic Lymphohistiocytosis, Familial, 4	Lymphadenopathy, Hepatomegaly, Splenomegaly	OMIM:603552
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R...	ORPHA:251380
Sickle Cell Anemia	Ischemic stroke, Jaundice, Chronic hemolytic anemia, Iron deficiency anemia, Cholelithiasis, Incr...	ORPHA:232
Matthew-Wood Syndrome	Annular pancreas, Aplasia/Hypoplasia of the pancreas, Vesicoureteral reflux, Abnormal spleen morp...	ORPHA:2470
Sickle Cell Disease	Jaundice, Hepatomegaly, Hematuria, Cholelithiasis, Splenic infarction, Leukocytosis, Target cells...	OMIM:603903
Caspase 8 Deficiency	Lymphadenopathy, Splenomegaly, Recurrent sinopulmonary infections, Pneumonia, Decreased CD4:CD8 r...	OMIM:607271
Prolidase Deficiency	Hepatomegaly, Skin ulcer, Dry skin, Splenomegaly, Recurrent respiratory infections, Crusting eryt...	ORPHA:742
Chronic Mucocutaneous Candidiasis	Cheilitis, Skin ulcer, Skin rash, Recurrent respiratory infections, Hepatitis, Erythema	ORPHA:1334
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Enlarged kidney, Inability to walk, Nephrotic syndrome, Bone marrow hypocellularity, Hepatospleno...	ORPHA:505248
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Splenomegaly, Portal hypertension	OMIM:610293
Chromosome 17Q12 Deletion Syndrome	Unilateral renal agenesis, Recurrent urinary tract infections, Renal cyst, Renal hypoplasia, Hydr...	OMIM:614527
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Hepatosplenomegaly, Lymphadenopathy	OMIM:618982
Congenital Rubella Syndrome	Jaundice, Anemia, Hepatomegaly, Thrombocytopenia, Splenomegaly, Abnormality of the pulmonary arte...	ORPHA:290
Congenital Disorder Of Glycosylation, Type Iiw	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Anemia, Recurrent otitis m...	OMIM:619525
Lymphoproliferative Syndrome 1	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopeni...	OMIM:613011
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Anemia, Acute myeloid leukemia, Hemophagocytosis, Pancytopenia, Hepatocellular carcinoma, Neoplas...	ORPHA:158057
Pfapa Syndrome	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:42642
Digeorge Syndrome	Anemia, Unilateral renal agenesis, Cholelithiasis, Renal insufficiency, Atelectasis, Renal dyspla...	OMIM:188400
Fanconi Anemia, Complementation Group L	Anemia, Unilateral renal agenesis, Bone marrow hypocellularity, Renal hypoplasia, Micropenis	OMIM:614083
Dyrk1A-Related Intellectual Disability Syndrome	Unilateral renal agenesis, Hypospadias, Pelvic kidney, Renal cyst, Aortic valve stenosis, Hydrone...	ORPHA:464306
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Elevated circulating creatine kinase concentration, Loss of ambulation, Right ventricular hypertr...	OMIM:253700
Autosomal Dominant Epidermolytic Ichthyosis	Erythroderma, Skin ulcer	ORPHA:312
Combined Oxidative Phosphorylation Deficiency 33	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cardiac arrest, Cardiomyop...	OMIM:617713
Chromosome 6Q24-Q25 Deletion Syndrome	Persistent fetal circulation, Atrial septal defect, Patent ductus arteriosus, Dysplastic pulmonar...	OMIM:612863
Aplasia Cutis-Myopia Syndrome	Skin ulcer	ORPHA:1117
Hereditary Amyloidosis With Primary Renal Involvement	Renal interstitial amyloid deposits, Hepatomegaly, Abnormal lymph node morphology, Decreased glom...	ORPHA:85450
7Q11.23 Microduplication Syndrome	Unilateral renal agenesis, Hypospadias, Enuresis, Aortic valve stenosis, Hydronephrosis, Atrial s...	ORPHA:96121
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24	Myositis, Biliary atresia	ORPHA:565899
Leopard Syndrome 1	Unilateral renal agenesis, Hypospadias, Hypertrophic cardiomyopathy, Pulmonic stenosis, Mitral va...	OMIM:151100
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Microvesicular h...	OMIM:203700
Tyrosinemia, Type I	Elevated urinary delta-aminolevulinic acid, Enlarged kidney, Hepatomegaly, Glomerular sclerosis, ...	OMIM:276700
Hyperkeratosis Lenticularis Perstans	Skin ulcer	ORPHA:409
Anemia, Congenital Dyserythropoietic, Type Ib	Jaundice, Anemia, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Poikilocytosis,...	OMIM:615631
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Nephronophthisis, Cholestasis, Splenomegaly, Chronic kidney disease, Hepatic fibros...	OMIM:615630
Glycogen Storage Disease Due To Acid Maltase Deficiency	Fatigable weakness of respiratory muscles, Hepatomegaly, Difficulty walking, Inability to walk, A...	ORPHA:365
Hsd10 Disease, Infantile Type	Abnormal circulating enzyme concentration or activity, Hypertrophic cardiomyopathy, Hyperammonemi...	ORPHA:391428
Tako-Tsubo Cardiomyopathy	Prolonged QT interval, Bradycardia, Hypertension, T-wave inversion, Low-output congestive heart f...	ORPHA:66529
Livedoid Vasculopathy	Ischemic stroke, Skin ulcer, Anemia, Pancytopenia, Macular purpura, Hypertension, Superficial der...	ORPHA:542643
Immunodeficiency 42	Splenomegaly, Hepatomegaly, Hypoplasia of the thymus	OMIM:616622
Mulibrey Nanism	Congestive heart failure, Hepatomegaly, Pericardial constriction, Myocardial fibrosis, Cardiomegaly	OMIM:253250
Immunodeficiency With Hyper-Igm, Type 5	Lymphadenopathy	OMIM:608106
Glycogen Storage Disease Ia	Enlarged kidney, Hepatomegaly, Decreased glomerular filtration rate, Nephrolithiasis, Focal segme...	OMIM:232200
Mullerian Aplasia And Hyperandrogenism	Unilateral renal agenesis	OMIM:158330
Chronic Thromboembolic Pulmonary Hypertension	Congestive heart failure, Increased pulmonary vascular resistance, Elevated circulating C-reactiv...	ORPHA:70591
Ollier Disease	Skin ulcer, Anemia	ORPHA:296
Juvenile Hyaline Fibromatosis	Skin ulcer	ORPHA:2028
Leukocyte Adhesion Deficiency, Type I	Skin ulcer, Periodontitis, Rectal abscess, Chronic mucocutaneous candidiasis, Leukocytosis, Osteo...	OMIM:116920
Giant Cell Arteritis	Skin ulcer, Recurrent pharyngitis, Vasculitis, Arthritis, Cerebral ischemia, Pericarditis, Epista...	ORPHA:397
Tafro Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Pleural effusion, Leukocytosis, Ascites, Thrombocytopenia,...	ORPHA:457077
Neurodegeneration With Brain Iron Accumulation 5	Akinesia, Mental deterioration, Dementia	OMIM:300894
Hemihyperplasia-Multiple Lipomatosis Syndrome	Nephroblastoma, Abnormality of the lymphatic system, Enlarged kidney	ORPHA:276280
Manganese Poisoning	Confusion, Akinesia, Gait disturbance, Memory impairment	ORPHA:306682
Gist-Plus Syndrome	Intussusception, Intestinal polyposis, Gastrointestinal stroma tumor	OMIM:175510
Focal Facial Dermal Dysplasia Type Iv	Intracranial hemorrhage, Abnormal mast cell morphology	ORPHA:398189
Ketamine-Induced Biliary Dilatation	Abnormal biliary tract morphology	ORPHA:293807
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemi...	ORPHA:75564
Sacral Agenesis With Vertebral Anomalies	Unilateral renal agenesis, Persistent cloaca	OMIM:615709
Heme Oxygenase 1 Deficiency	Hepatomegaly, Hematuria, Lymphadenopathy, Asplenia, Nephritis, Proteinuria, Cervical lymphadenopathy	OMIM:614034
African Trypanosomiasis	Abnormality of the endocrine system, Optic neuritis, Abnormal growth hormone level, Pericarditis,...	ORPHA:3385
Denys-Drash Syndrome	Enlarged kidney, Focal segmental glomerulosclerosis, Nephrotic syndrome, Diffuse mesangial sclero...	OMIM:194080
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Splenomegaly, Portal hypertension	OMIM:617068
Immunodeficiency 32A	Lymphadenitis, Lymphadenopathy	OMIM:614893
Heterotaxy, Visceral, 1, X-Linked	Enlarged kidney, Biliary atresia, Pulmonic stenosis, Cardiomegaly, Right atrial isomerism, Transp...	OMIM:306955
Tropical Endomyocardial Fibrosis	Left atrial enlargement, P pulmonale, Abnormal ST segment, Splenomegaly, Prolonged QRS complex, C...	ORPHA:75565
Immunodeficiency With Hyper-Igm, Type 2	Lymphadenopathy	OMIM:605258
Pancreatic Colipase Deficiency	Megaloblastic anemia, Exocrine pancreatic insufficiency, Cholelithiasis	ORPHA:309108
Amyloidosis, Hereditary, Transthyretin-Related	Limb ataxia, Truncal ataxia, Confusion, Cardiomyopathy, Ataxia, Orthostatic hypotension due to au...	OMIM:105210
Zttk Syndrome	Polyuria, Unilateral renal agenesis, Unilateral lung agenesis, Absent gallbladder, Atrial septal ...	OMIM:617140
Lymphoproliferative Syndrome 2	Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Ascites, Recurren...	OMIM:615122
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Akinesia, Hepatosplenomegaly, Splenomegaly, Progressive neurologic deterioration, C...	OMIM:608013
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Lymphadenopathy, Neutropenia i...	OMIM:603909
Hereditary Sensory And Autonomic Neuropathy Type 1	Skin ulcer, Penetrating foot ulcers, Osteomyelitis	ORPHA:36386
8Q24.3 Microdeletion Syndrome	Abnormal lung lobation, Abnormality of the kidney, Atrioventricular canal defect, Unilateral rena...	ORPHA:508488
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Cirrhosis, Jaundice, Anemia, Hepatomegaly, Hypochromia, Elevated hepatic iron concentration, Anis...	OMIM:616860
Sandhoff Disease	Hepatomegaly, Progressive psychomotor deterioration, Orthostatic hypotension, Hepatosplenomegaly,...	OMIM:268800
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Tip-toe gait, Inability to walk, Reduced left ventricular ejection fraction, Right bundle branch ...	ORPHA:268
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Heart block, Hepatomegaly, Reduced tissue carnitine O-palmitoyltransferase 2 activity, Cardiomyop...	ORPHA:228308
Anemia, Congenital Dyserythropoietic, Type Iv	Hepatomegaly, Anemia, Reduced hematocrit, Hypospadias, Anemia of inadequate production, Persisten...	OMIM:613673
Bartter Syndrome Type 4	Hypokalemia, Hyperactive renin-angiotensin system, Hypochloremia, Increased circulating renin lev...	ORPHA:89938
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Lymphadenopathy, Pleural effusion, Pericarditis, Splenomegaly	ORPHA:85414
Myoectodermal Gonadal Dysgenesis Syndrome	Unilateral renal agenesis, Accessory spleen	OMIM:618419
Ornithine Transcarbamylase Deficiency	Aminoaciduria, Splenomegaly	ORPHA:664
Dermatomyositis	Elevated circulating hepatic transaminase concentration, Skin rash, Sinus tachycardia, Pericardit...	ORPHA:221
Lymphoproliferative Syndrome, X-Linked, 1	Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Lymphocytosis, Re...	OMIM:308240
Hereditary Orotic Aciduria	Oroticaciduria, Anemia, Abnormality of the ureter, Orotic acid crystalluria, Splenomegaly, Recurr...	ORPHA:30
Rosaï-Dorfman Disease	Lymphadenopathy	ORPHA:158014
Neuropathy, Hereditary Sensory And Autonomic, Type Iib	Acral ulceration, Osteomyelitis	OMIM:613115
Congenital Bile Acid Synthesis Defect Type 2	Jaundice, Elevated circulating hepatic transaminase concentration, Giant cell hepatitis, Hepatome...	ORPHA:79303
Heterotaxy, Visceral, 5, Autosomal	Right atrial isomerism, Ureteral duplication, Atrioventricular canal defect, Double inlet left ve...	OMIM:270100
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Atrial septal defect, Recurrent sinusitis, Unilateral renal agenesis	OMIM:213980
Immunodeficiency 7	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Hypereosinophilia, Recu...	OMIM:615387
Senior-Boichis Syndrome	Tubular luminal dilatation, Cholestasis, Ascites, Abnormal renal insterstitial morphology, Stage ...	ORPHA:84081
Hereditary Late-Onset Parkinson Disease	Akinesia, Shuffling gait, Orthostatic hypotension due to autonomic dysfunction, Dementia, Mental ...	ORPHA:411602
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Lymph node hypoplasia, Splenomegaly, Aplasia of the thymus, Absent tonsils, General...	OMIM:602450
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Mediastinal lymphadenopathy, Hemophagocytosis, Decreased proportion ...	OMIM:619802
Blau Syndrome	Large vessel vasculitis, Abnormal salivary gland morphology, Anemia, Erythema, Skin ulcer, Erythe...	ORPHA:90340
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Hepatomegaly, Anemia, Splenomegaly, Recurrent upper respiratory tract infections, Interstitial pn...	OMIM:620296
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Abnormal lymph node morphology, Splenomegaly, Hepatosplenomegaly	OMIM:612840
Cold Agglutinin Disease	Hepatomegaly, Lymphadenopathy, Splenomegaly, Abnormal urinary color, Hemolytic anemia	ORPHA:56425
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia	ORPHA:231401
Primary Hepatic Neuroendocrine Carcinoma	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Palpitations, Biliary trac...	ORPHA:100085
Bullous Diffuse Cutaneous Mastocytosis	Erythroderma, Cutaneous mastocytosis	ORPHA:280785
Porphyria Due To Ala Dehydratase Deficiency	Agitation, Difficulty walking, Abnormal fear-induced behavior, Increased urinary porphobilinogen,...	ORPHA:100924
Penoscrotal Transposition	Penoscrotal transposition, Hypospadias, Cardiomyopathy, Abnormality of the ureter, Renal agenesis...	ORPHA:2842
Infantile Myofibromatosis	Neoplasm of the pancreas, Neoplasm of the lung, Skin ulcer	ORPHA:2591
Immunodeficiency With Hyper-Igm, Type 3	Absence of lymph node germinal center	OMIM:606843
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Congestive heart failure, Aortic regurgitation, Cardiomegaly, Inability to walk, Truncal ataxia, ...	OMIM:620066
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope...	ORPHA:231154
Glycogen Storage Disease Vii	Jaundice, Cholelithiasis, Reticulocytosis, Gout, Reduced erythrocyte 2,3-diphosphoglycerate conce...	OMIM:232800
Burkitt Lymphoma	Abnormal lymph node morphology, Abnormality of the spleen	ORPHA:543
Familial Idiopathic Dilatation Of The Right Atrium	Paroxysmal atrial fibrillation, Hepatomegaly, Cardiomegaly, Reduced left ventricular ejection fra...	ORPHA:1677
Mucolipidosis Ii Alpha/Beta	Tip-toe gait, Enlarged kidney, Hepatomegaly, Mucopolysacchariduria, Splenomegaly, Cardiomegaly	OMIM:252500
Biliary, Renal, Neurologic, And Skeletal Syndrome	Intrahepatic bile duct dilatation, Cholestasis, Biliary cirrhosis, Left-to-right shunt, Prolonged...	OMIM:619534
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil...	ORPHA:766
Hemoglobin E Disease	Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H...	ORPHA:2133
Atypical Juvenile Parkinsonism	Akinesia, Inability to walk, Shuffling gait, Gait ataxia, Short stepped shuffling gait	ORPHA:391411
Dubin-Johnson Syndrome	Abnormality of the liver, Biliary tract abnormality, Jaundice, Hepatomegaly	ORPHA:234
Schnitzler Syndrome	Lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:37748
Adult-Onset Still Disease	Myocarditis, Hepatomegaly, Anemia, Lymphadenopathy, Pleuritis, Leukocytosis, Bone marrow hypocell...	ORPHA:829
Dyskeratosis Congenita	Cirrhosis, Neoplasm of the pancreas, Hepatomegaly, Anemia, Skin ulcer, Periodontitis, Abnormal te...	ORPHA:1775
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Anemia, Pericarditis, Splenomegaly, Abnormal hemoglobin	ORPHA:163596
Helsmoortel-Van Der Aa Syndrome	Irritability, Enlarged kidney, Hyperactivity, Recurrent urinary tract infections, Enuresis noctur...	OMIM:615873
Mucopolysaccharidosis, Type Iiia	Hepatomegaly, Asymmetric septal hypertrophy, Splenomegaly, Recurrent upper respiratory tract infe...	OMIM:252900
Brooke-Spiegler Syndrome	Abnormality of the submandibular glands, Abnormality of the sublingual glands, Skin ulcer, Saliva...	ORPHA:79493
Scrub Typhus	Lymphadenopathy, Renal insufficiency, Splenomegaly, Lethargy	ORPHA:83317
Classic Progressive Supranuclear Palsy Syndrome	Akinesia, Gait imbalance, Falls, Mental deterioration, Social and occupational deterioration	ORPHA:240071
Sporadic Adult-Onset Ataxia Of Unknown Etiology	Akinesia, Memory impairment, Dysdiadochokinesis, Shuffling gait, Gait ataxia, Ataxia, Dementia	ORPHA:247234
Alg9-Cdg	Irritability, Enlarged kidney, Hepatomegaly, Abnormal renal artery morphology, Ureteral hypoplasi...	ORPHA:79328
Autosomal Dominant Cutis Laxa	Emphysema, Unilateral renal agenesis, Bronchiolitis, Dilatation of the ventricular cavity, Bladde...	ORPHA:90348
Familial Multiple Nevi Flammei	Skin ulcer, Pulmonary embolism, Intracranial hemorrhage, Arrhythmia	ORPHA:624
Absence Of The Pulmonary Artery	Congestive heart failure, Atrial flutter, Cardiomegaly, Reduced left ventricular ejection fractio...	ORPHA:980
Fish-Eye Disease	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:79292
Scalp-Ear-Nipple Syndrome	Unilateral renal agenesis, Cardiac myxoma, Renal hypoplasia, Renal insufficiency, Pyelonephritis	OMIM:181270
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Unilateral renal agenesis, Hypospadias, Recurrent urinary tract infections, Ventricular septal de...	ORPHA:268261
Cockayne Syndrome	Hepatomegaly, Urinary incontinence, Unilateral renal agenesis, Neurogenic bladder, Nephrotic synd...	ORPHA:191
Werner Syndrome	Congestive heart failure, Aplasia/Hypoplasia of the testes, Ovarian neoplasm, Skin ulcer, Hyperte...	ORPHA:902
Glycogen Storage Disease Of Heart, Lethal Congenital	Congestive heart failure, Enlarged kidney, Bradycardia, ST segment elevation, Cardiomyopathy, Hyp...	OMIM:261740
Acrodysostosis 1 With Or Without Hormone Resistance	Unilateral renal agenesis	OMIM:101800
Congenital Tricuspid Valve Dysplasia	Tricuspid valve prolapse, Hepatomegaly, Abnormal tricuspid valve annulus morphology, Patent foram...	ORPHA:555874
Immunodeficiency 91 And Hyperinflammation	Hepatomegaly, Hemolytic-uremic syndrome, Lymphadenopathy, Nephrotic syndrome, Hepatosplenomegaly,...	OMIM:619644
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Renal dysplasia, Polycystic kidney dysplasia, Enlarged kidney, Micropenis	OMIM:613091
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Intraalveolar phospholipid accumulation, Leukocytosis, Recurrent respiratory infect...	OMIM:618042
Familial Aortic Dissection	Cardiomegaly, Abnormal left ventricular function, Aortic regurgitation, Patent ductus arteriosus	ORPHA:229
Transaldolase Deficiency	Atrial septal defect, Cirrhosis, Hepatomegaly, Anemia, Pancytopenia, Patent foramen ovale, Hepato...	OMIM:606003
Q Fever	Myocarditis, Pneumonia, Hepatomegaly, Anemia, Lymphadenopathy, Hematuria, Abnormal pulmonary inte...	ORPHA:781
Mixed Connective Tissue Disease	Myocarditis, Abnormal pulmonary interstitial morphology, Hepatomegaly, Mediastinal lymphadenopath...	ORPHA:809
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Leukocytosis, Nephrotic sy...	ORPHA:39041
Immunoglobulin A Vasculitis	Gastrointestinal hemorrhage, Purpura, Skin ulcer, Erythema, Vasculitis, Skin rash, Arthritis, Epi...	ORPHA:761
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Neutropenia in presence of ant...	OMIM:601859
Kufor-Rakeb Syndrome	Akinesia, Ataxia, Gait disturbance, Dementia	OMIM:606693
Aortic Arch Interruption	Blood pressure substantially higher in arms than legs, Hypertension, Aortopulmonary window, Abnor...	ORPHA:2299
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Hepatosplenomegaly, Heart murmur, Cardiomegaly, Diffuse alveolar hemorrhage, Glomer...	ORPHA:99931
Perry Syndrome	Short stepped shuffling gait, Akinesia, Frontotemporal dementia	OMIM:168605
Shwachman-Diamond Syndrome	Aplastic anemia, Elevated circulating hepatic transaminase concentration, Macrocytic anemia, Skin...	ORPHA:811
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Abnormal renal collecting system morphology, Unilateral renal agenesis, Hypospadias, Pelvic kidne...	ORPHA:468631
North American Indian Childhood Cirrhosis	Prolonged neonatal jaundice, Biliary cirrhosis, Portal hypertension	OMIM:604901
Immunodeficiency 60 And Autoimmunity	Decreased basophil count, Pancytopenia, Recurrent sinopulmonary infections, Splenomegaly, Pulmona...	OMIM:618394
Interatrial Communication	Congestive heart failure, Atrial septal defect, Atrial flutter, Sinus venosus atrial septal defec...	ORPHA:1478
Cirrhosis, Familial	Cirrhosis, Jaundice, Fulminant hepatitis, Hypertension, Biliary cirrhosis, Pulmonary arterial hyp...	OMIM:215600
Endocrine-Cerebroosteodysplasia	Enlarged kidney, Hyperechogenic kidneys, Hypospadias, Microphallus	OMIM:612651
Nephroblastoma	Nephroblastoma, Hematuria, Lymphadenopathy	ORPHA:654
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Cardiomegaly, Hypertension, Postnatal growth retardation, Pulmonary arterial hypertension	OMIM:613320
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Follicular hyperplasia, Lymphadenopathy	OMIM:619846
Bile Acid Synthesis Defect, Congenital, 5	Jaundice, Portal fibrosis, Iron deficiency anemia, Hepatomegaly, Portal hypertension, Splenomegal...	OMIM:616278
Gaucher Disease, Type I	Abnormal pulmonary interstitial morphology, Hepatomegaly, Anemia, Pancytopenia, Aortic valve sten...	OMIM:230800
Neuropathy, Hereditary Sensory And Autonomic, Type Ic	Skin ulcer, Osteomyelitis	OMIM:613640
Erythrocytosis, Familial, 8	Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo...	OMIM:222800
Craniofaciofrontodigital Syndrome	Congestive heart failure, Gastrointestinal hemorrhage, Persistent fetal circulation, Bicuspid aor...	ORPHA:363705
Myotonic Dystrophy 1	Atrial flutter, Cholelithiasis, Atrial fibrillation, First degree atrioventricular block, Testicu...	OMIM:160900
Blau Syndrome	Iritis, Skin ulcer, Arthritis, Hypertension, Synovitis, Eczematoid dermatitis, Pericarditis, Nong...	OMIM:186580
Hennekam-Beemer Syndrome	Hypotension, Mastocytosis, Telangiectasia of the skin, Arrhythmia, Pneumonia, Skin vesicle, Erythema	ORPHA:2135
Adams-Oliver Syndrome 5	Patent foramen ovale, Right atrial enlargement, Portal vein thrombosis, Pulmonic stenosis, Spleno...	OMIM:616028
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal salt wasting, Anemia, Decreased glomerular filtration rate, Glomerular sclerosis, Tubuloint...	OMIM:174000
Immunodeficiency 54	Lymphadenopathy, Hepatomegaly, Splenomegaly	OMIM:609981
Mitochondrial Complex I Deficiency, Nuclear Type 36	Cardiomegaly, Perimembranous ventricular septal defect, Hyperprolinemia, Hyperalaninemia	OMIM:619170
Microsporidiosis	Bronchitis, Sinusitis, Biliary tract abnormality, Myocarditis, Cholangitis, Thyroiditis, Bronchio...	ORPHA:2552
Purine Nucleoside Phosphorylase Deficiency	Elevated urinary inosine level, Recurrent urinary tract infections, Decreased urinary urate, Elev...	OMIM:613179
Gaucher Disease Type 3	Abnormal pulmonary interstitial morphology, Hepatomegaly, Anemia, Hematuria, Pancytopenia, Abnorm...	ORPHA:77261
Arterial Calcification, Generalized, Of Infancy, 1	Congestive heart failure, Hypophosphatemic rickets, Hypertension, Cardiomegaly, Dilated cardiomyo...	OMIM:208000
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Increased mean corpuscular volume, Portal hypertension, Thrombocytopenia, Splenomegaly, Usual int...	OMIM:620367
Familial Cold Autoinflammatory Syndrome 2	Lymphadenopathy, Splenomegaly	OMIM:611762
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Pulmonic stenosis, Leukopenia, Splenomegaly, Lymphopenia, Neutropenia, Secundum atrial septal def...	OMIM:612541
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Unilateral renal agenesis, Hypospadias, Abnormality of the urinary system, Vesicoureteral reflux,...	ORPHA:95699
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Bilateral renal agenesis, Hydroureter, Unilateral renal agenesis	OMIM:619194
Immunodeficiency 103, Susceptibility To Fungal Infections	Lymphadenopathy	OMIM:212050
Meckel Syndrome, Type 1	Accessory spleen, Asplenia, Bile duct proliferation, Pulmonary hypoplasia, Splenomegaly, Cryptorc...	OMIM:249000
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Bilateral lung agenesis, Hypospadias, Pulmonary artery stenosis, Congenital pulmonary airway malf...	OMIM:611812
Triosephosphate Isomerase Deficiency	Congestive heart failure, Normocytic anemia, Jaundice, Chronic hemolytic anemia, Cholelithiasis, ...	OMIM:615512
Thrombocythemia 1	Thrombocytosis, Splenomegaly	OMIM:187950
Immunodeficiency 10	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Recurrent urinary tract infections, A...	OMIM:612783
Congenital Bile Acid Synthesis Defect Type 4	Cholestatic liver disease, Giant cell hepatitis, Elevated circulating hepatic transaminase concen...	ORPHA:79095
Beckwith-Wiedemann Syndrome	Enlarged kidney, Hepatomegaly, Renal cortical cysts, Vesicoureteral reflux, Nephrolithiasis, Neph...	OMIM:130650
Multiple Pterygium Syndrome, Lethal Type	Hypoplastic heart, Akinesia	OMIM:253290
Immunodeficiency 36 With Lymphoproliferation	Recurrent lower respiratory tract infections, Chronic lymphatic leukemia, B lymphocytopenia, Incr...	OMIM:616005
Dermatoosteolysis, Kirghizian Type	Skin ulcer, Keratitis, Osteoarthritis	ORPHA:1657
Tularemia	Abnormal nasopharyngeal adenoid morphology, Cervical lymphadenopathy, Mediastinal lymphadenopathy...	ORPHA:3392
Spherocytosis, Type 5	Jaundice, Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia...	OMIM:612690
Meacham Syndrome	Enlarged kidney, Horseshoe kidney, Accessory spleen	OMIM:608978
Immunodeficiency 105	Absence of lymph node germinal center, Hepatosplenomegaly	OMIM:619924
Thyroid Lymphoma	Lymphadenopathy, Dysphagia	ORPHA:97285
Hepatoportal Sclerosis	Abnormal liver parenchyma morphology, Jaundice, Anemia, Periportal fibrosis, Hepatocellular carci...	ORPHA:64743
Primary Myelofibrosis	Anorexia, Hepatomegaly, Lymphadenopathy, Hepatosplenomegaly, Splenomegaly	ORPHA:824
Immunodeficiency With Hyper-Igm, Type 4	Absence of lymph node germinal center	OMIM:608184
Dehydrated Hereditary Stomatocytosis 2	Anisopoikilocytosis, Jaundice, Hepatomegaly, Increased mean corpuscular hemoglobin concentration,...	OMIM:616689
Distal 22Q11.2 Microduplication Syndrome	Tricuspid valve prolapse, Ventricular septal defect, Unilateral renal agenesis	ORPHA:261337
Systemic Sclerosis	Myocarditis, Abnormal pulmonary interstitial morphology, Nail bed telangiectasia, Acral ulceratio...	ORPHA:90291
Hereditary Hemorrhagic Telangiectasia	Tongue telangiectasia, Gastrointestinal hemorrhage, Nasal mucosa telangiectasia, Epistaxis, Chole...	ORPHA:774
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Cervical lymphadenopathy	OMIM:618987
Glycogen Storage Disease Xii	Normocytic anemia, Jaundice, Hepatomegaly, Decreased erythrocyte fructose-1,6-bisphosphate aldola...	OMIM:611881
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Hepatocellular carcinoma, Ascites, Portal hypertension, Thrombocytopenia, Splenomeg...	OMIM:619463
Thrombocytopenia With Beta-Thalassemia, X-Linked	Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni...	OMIM:314050
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Absent tonsils, Absence of lymph node germinal center	ORPHA:277
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Recurrent lower respiratory tract inf...	OMIM:616100
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Transposition of the great arteries, Muscular ventricular septal defect, Unilateral renal agenesi...	OMIM:619503
Neuroblastoma	Irritability, Elevated urinary catecholamine level, Elevated urinary vanillylmandelic acid, Lymph...	ORPHA:635
Syndromic Diarrhea	Bicuspid aortic valve, Cirrhosis, Hepatomegaly, Atrial septal defect, Polycystic kidney dysplasia...	ORPHA:84064
Acrofacial Dysostosis 1, Nager Type	Ventricular septal defect, Tetralogy of Fallot, Unilateral renal agenesis	OMIM:154400
Neurofaciodigitorenal Syndrome	Unilateral renal agenesis	ORPHA:2673
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Macrovesicular hepatic steatosis, Acute hepatic steatosis, Cholestasis, Cholesterol gallstones, H...	ORPHA:209902
Boutonneuse Fever	Cervical lymphadenopathy, Renal insufficiency, Lymphadenopathy	ORPHA:83313
Plague	Hematemesis, Carbuncle, Hepatomegaly, Skin ulcer, Inflammatory abnormality of the eye, Acute infe...	ORPHA:707
Combined Immunodeficiency Due To Zap70 Deficiency	Abnormal lymph node morphology, Lymphadenopathy, Lymphadenitis, Nephrotic syndrome, Hepatosplenom...	ORPHA:911
Immunodeficiency 27B	Generalized lymphadenopathy	OMIM:615978
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Emphysema, Unilateral renal agenesis, Abnormal heart morphology, Unilateral lung agenesis, Absent...	ORPHA:500150
Familial Mediterranean Fever	Hepatomegaly, Pleuritis, Pleural effusion, Leukocytosis, Nephrotic syndrome, Pericarditis, Neutro...	OMIM:249100
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Enlarged kidney, Hepatomegaly, Tubulointerstitial fibrosis, Nephrolithiasis, Nephrocalcinosis, Pr...	ORPHA:79259
Ogden Syndrome	Irritability, Enlarged kidney, Polycystic kidney dysplasia, Global glomerulosclerosis, Dysphagia,...	OMIM:300855
Abetalipoproteinemia	Congestive heart failure, Steppage gait, Hepatomegaly, Elevated circulating hepatic transaminase ...	ORPHA:14
Incontinentia Pigmenti	Congestive heart failure, Skin ulcer, Erythema, Skin rash, Cerebral ischemia, Pulmonary arterial ...	ORPHA:464
Beckwith-Wiedemann Syndrome	Enlarged kidney, Ureteral duplication, Hepatomegaly, Congenital megaureter, Hypercalciuria, Vesic...	ORPHA:116
Parkinson Disease 23, Autosomal Recessive Early-Onset	Akinesia, Mental deterioration, Dementia	OMIM:616840
Ciliary Dyskinesia, Primary, 53	Situs inversus totalis, Perimembranous ventricular septal defect, Patent foramen ovale, Pulmonary...	OMIM:620642
Griscelli Syndrome	Hepatomegaly, Lymphadenopathy, Bone marrow hypocellularity, Ataxia, Splenomegaly	ORPHA:381
Cat Eye Syndrome	Tricuspid atresia, Biliary atresia, Vesicoureteral reflux, Total anomalous pulmonary venous retur...	OMIM:115470
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Hypochromic microcytic anemia, B lymphocytopenia, Cardiomyopathy, Sideroblastic anemia, Nephrocal...	OMIM:616084
Congenital Myopathy 12	Akinesia, Abnormal circulating creatine kinase concentration	OMIM:612540
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Skin ulcer, Neoplasm of the lung, Erythema	ORPHA:659
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Abnormal pulmonary interstitial morphology, Skin ulcer, Anemia, Cholelithiasis, Pancytopenia, Bac...	ORPHA:2072
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Recurrent respiratory infecti...	ORPHA:100026
Adenocarcinoma Of The Anal Canal	Neoplasm of the liver, Skin ulcer, Neoplasm of the lung, Intestinal bleeding	ORPHA:424016
Roifman Syndrome	Lymphadenopathy, Hepatomegaly, Splenomegaly	OMIM:616651
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Abnormal renal morphology, Pancreatic lymphangiectasis, Ascites, Hydronephrosis, He...	ORPHA:1655
Subaortic Stenosis-Short Stature Syndrome	Biliary tract abnormality, Acne, Arrhythmia	ORPHA:3191
Griscelli Syndrome Type 2	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:79477
Drug-Induced Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Abnormal urinary color, Splenomegaly	ORPHA:90037
Meige Disease	Recurrent skin infections, Skin ulcer, Pleural effusion, Recurrent bacterial skin infections	ORPHA:90186
Autoimmune Polyendocrinopathy Type 4	Aplasia/Hypoplasia of the spleen, Abnormal pulmonary interstitial morphology, Non-caseating epith...	ORPHA:227990
Acrodermatitis Enteropathica	Cheilitis, Skin ulcer, Dry skin, Blepharitis, Pustule, Conjunctivitis, Erythema	ORPHA:37
Pseudomyxoma Peritonei	Lymphadenopathy	ORPHA:26790
Double Outlet Left Ventricle	Pulmonary valve atresia, Double outlet left ventricle, Tricuspid atresia, Abnormal right ventricu...	ORPHA:3427
Histiocytosis-Lymphadenopathy Plus Syndrome	Decreased response to growth hormone stimulation test, Hepatomegaly, Pulmonary arterial hypertens...	OMIM:602782
Neuropathy, Hereditary Sensory And Autonomic, Type Ia	Foot osteomyelitis, Acral ulceration, Osteomyelitis	OMIM:162400
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism	Freezing of gait, Akinesia	OMIM:619911
Immune Dysregulation, Autoimmunity, And Autoinflammation	Cervical lymphadenopathy, Inguinal lymphadenopathy	OMIM:620514
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Persistent fetal circulation, Normochromic anemia, Cholelithiasis, Bradycardia, Hypertrophic card...	OMIM:618775
Fanconi Anemia, Complementation Group A	Anemia, Ectopic kidney, Duplicated collecting system, Pancytopenia, Abnormal renal morphology, Re...	OMIM:227650
Hemophagocytic Lymphohistiocytosis, Familial, 1	Irritability, Hepatomegaly, Lymphadenopathy, Ataxia, Splenomegaly	OMIM:267700
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Jaundice, Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Prol...	OMIM:300908
Mucopolysaccharidosis Type 3	Chronic otitis media, Abnormal aortic valve morphology, Hepatomegaly, Cardiomegaly, Reduced left ...	ORPHA:581
Calciphylaxis	Secondary hyperparathyroidism, Skin ulcer	ORPHA:280062
Castleman Disease	Hematuria, Mediastinal lymphadenopathy, Lymphadenopathy, Ureteral obstruction, Generalized lympha...	ORPHA:160
Primary Biliary Cholangitis	Gastrointestinal inflammation, Cirrhosis, Jaundice, Hepatomegaly, Orthostatic hypotension, Increa...	ORPHA:186
Flynn-Aird Syndrome	Skin ulcer	ORPHA:2047
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Anemia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Elevated hepatic iron co...	OMIM:615234
Pallister-Hall Syndrome	Abnormal lung lobation, Atrioventricular canal defect, Ectopic kidney, Hypospadias, Unilateral re...	ORPHA:672
Anaplastic Thyroid Carcinoma	Lymphadenopathy, Dysphagia	ORPHA:142
Senior-Loken Syndrome 8	Hepatic cysts, Intrahepatic bile duct dilatation, Pancreatic cysts, Pallor	OMIM:616307
Polycythemia Vera	Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro...	OMIM:263300
Deafness-Lymphedema-Leukemia Syndrome	Bone marrow hypocellularity, Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:3226
Fanconi Anemia, Complementation Group E	Anemia, Ectopic kidney, Duplicated collecting system, Pancytopenia, Reticulocytopenia, Renal agen...	OMIM:600901
Mycosis Fungoides	Lymphadenopathy	OMIM:254400
Autoimmune Polyendocrinopathy Type 3	Aplasia/Hypoplasia of the spleen, Abnormal pulmonary interstitial morphology, Non-caseating epith...	ORPHA:227982
Parkinson Disease 17	Akinesia	OMIM:614203
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Cirrhosis, Jaundice, Macrovesicular hepatic steatosis, Hepatomegaly, Acral ulceration, Microvesic...	OMIM:256810
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoplasia of the thymus, Severe B lymp...	OMIM:603554
Roifman Syndrome	Hepatosplenomegaly, Lymphadenopathy	ORPHA:353298
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Absent tonsils, Hepatomegaly, Lymph node hypoplasia	ORPHA:276
Ectodermal Dysplasia-Blindness Syndrome	Recurrent respiratory infections, Skin ulcer, Keratoconjunctivitis sicca	ORPHA:1806
Congenital Myopathy 9A	Akinesia	OMIM:618822
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly	OMIM:613576
Hemophagocytic Lymphohistiocytosis, Familial, 2	Irritability, Hepatomegaly, Lymphadenopathy, Hepatosplenomegaly, Splenomegaly, Ataxia	OMIM:603553
Lmna-Related Cardiocutaneous Progeria Syndrome	Congestive heart failure, Emphysema, Abnormal intrahepatic bile duct morphology, Premature skin w...	ORPHA:363618
Acute Monoblastic/Monocytic Leukemia	Oliguria, Cervical lymphadenopathy, Anorexia	ORPHA:514
Cantu Syndrome	Bicuspid aortic valve, Pericardial effusion, Congenital hypertrophy of left ventricle, Patent duc...	OMIM:239850
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Autoimmune hemolytic anemia, Pulmonary pneumatocele, Hepatomegaly, Recurrent respiratory infectio...	OMIM:620565
Chronic Myeloid Leukemia	Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl...	ORPHA:521
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatomegaly, Anemia, Lymphadenopathy, Vesicoureteral reflux, Cholestasis, Leukocytosis, Lymphade...	OMIM:615895
Overhydrated Hereditary Stomatocytosis	Decreased mean corpuscular hemoglobin concentration, Intermittent jaundice, Reticulocytosis, Abno...	ORPHA:3203
Combined Oxidative Phosphorylation Deficiency 59	Congestive heart failure, Hypertrophic cardiomyopathy, Cholelithiasis, Severely reduced left vent...	OMIM:620646
Proboscis Lateralis	Duplication of renal pelvis, Ureteral agenesis, Ventricular septal defect, Unilateral renal agenesis	ORPHA:141099
Desmoplastic Small Round Cell Tumor	Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:83469
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Enlarged kidney, Bifid ureter, Nephroblastoma, Renal malrotation, Multicystic kidney dysplasia	ORPHA:500095
Cinca Syndrome	Hepatosplenomegaly, Lymphadenopathy	OMIM:607115
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Unilateral renal agenesis	ORPHA:457284
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness	Hypothyroidism, Increased serum pyruvate, Akinesia, Hyperalaninemia	OMIM:619147
Aregenerative Anemia	Depression, Bone marrow hypocellularity, Emotional lability, Lymphadenopathy	ORPHA:101096
Medullary Thyroid Carcinoma	Lymphadenopathy, Dysphagia	ORPHA:1332
Adult Polyglucosan Body Disease	Skin ulcer	ORPHA:206583
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Decreased circulating androstenedione concentration, Hyperkalemia, Elevated serum 11-deoxycortiso...	OMIM:201750
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Penile Agenesis	Atrial septal defect, Hydroureter, Bilateral lung agenesis, Abnormality of the bladder, Bilateral...	ORPHA:49
Familial Keratoacanthoma	Adenoma sebaceum, Skin ulcer	ORPHA:493
Alpha-N-Acetylgalactosaminidase Deficiency	Cardiomegaly, Recurrent pneumonia	ORPHA:3137
Sézary Syndrome	Lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:3162
Arthrogryposis Multiplex Congenita 6	Akinesia	OMIM:619334
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Cardiomegaly, Ventricular septal defect, Hypertrophic cardiomyopathy	OMIM:616897
Common Variable Immunodeficiency	Pneumonia, Emphysema, Lymphadenopathy, Recurrent respiratory infections, Recurrent bronchitis, Br...	ORPHA:1572
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Chronic oral candidiasis, Hypoparathyroidism, Cholelithiasis, Chronic active hepatitis, Chronic m...	OMIM:240300
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Hepatosplenomegaly, Lymphadenopathy	OMIM:619750
Thrombocytopenia, Anemia, And Myelofibrosis	Anisopoikilocytosis, Thrombocytopenia, Anemia, Splenomegaly	OMIM:617441
Acute Promyelocytic Leukemia	Anorexia, Addictive alcohol use, Hematuria, Lymphadenopathy	ORPHA:520
Thymic Neuroendocrine Tumor	Neoplasm of the thymus, Calcium nephrolithiasis, Mediastinal lymphadenopathy, Chronic noninfectio...	ORPHA:97289
Lymphatic Filariasis	Abnormality of the kidney, Lymphangiectasis, Hematuria, Lymphadenopathy, Urethral obstruction, Ab...	ORPHA:2035
Microgastria-Limb Reduction Defect Syndrome	Abnormal lung lobation, Hepatomegaly, Renal hypoplasia/aplasia, Truncus arteriosus, Renal agenesi...	ORPHA:2538
Mitochondrial Complex I Deficiency, Nuclear Type 28	Truncal ataxia, Akinesia, Hyperalaninemia, Choreoathetosis	OMIM:618249
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome	Truncal ataxia, Right ventricular dilatation, Difficulty walking	ORPHA:369847
Sialuria	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cholelithiasis, Hepatosple...	ORPHA:3166
Mitchell-Riley Syndrome	Annular pancreas, Biliary atresia, Pancreatic hypoplasia, Cholestasis, Absent gallbladder, Acholi...	OMIM:615710
Autoinflammatory Disease, Systemic, With Vasculitis	Small vessel vasculitis, Hepatomegaly, Jaundice, Elevated circulating C-reactive protein concentr...	OMIM:620376
Waldenström Macroglobulinemia	Anorexia, Hepatomegaly, Lymphadenopathy, Ataxia, Splenomegaly, Renal insufficiency	ORPHA:33226
Spherocytosis, Type 4	Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:612653
Spherocytosis, Type 2	Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia	OMIM:616649
Cushing Disease	Purpura, Acne, Skin ulcer, Hypertension, Lymphopenia, Leukocytosis, Capillary fragility, Adrenal ...	ORPHA:96253
Autoimmune Hemolytic Anemia, Warm Type	Autoimmune hemolytic anemia, Jaundice, Chronic lymphatic leukemia, Splenomegaly, Abnormal urinary...	ORPHA:90033
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Ischemic stroke, Aortic regurgitation, Cardiomegaly, Hypertension, Transient ischemic attack, Hyp...	ORPHA:91387
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Unilateral renal agenesis, Subarterial ventricular septal defect, Recurrent pneumonia, Lymphangio...	ORPHA:99646
Gallbladder Neuroendocrine Tumor	Biliary tract obstruction, Intermittent jaundice, Biliary tract neoplasm, Cholecystitis, Extrahep...	ORPHA:100086
Lethal Acantholytic Erosive Disorder	Cardiomegaly, Cardiomyopathy, Hypovolemic shock, Impaired myocardial contractility	ORPHA:158687
Hyperimmunoglobulinemia D With Periodic Fever	Hepatomegaly, Ataxia, Lymphadenopathy	ORPHA:343
Mevalonic Aciduria	Fluctuating splenomegaly, Progressive cerebellar ataxia, Lymphadenopathy, Hepatosplenomegaly, Flu...	OMIM:610377
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Unilateral renal agenesis, Hypospadias, Renal agenesis, Recurrent upper respiratory tract infecti...	OMIM:308205
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Nephroblastoma, Renal hypoplasia, Splenomegaly	OMIM:612918
Pediatric Systemic Lupus Erythematosus	Hematuria, Lymphadenopathy, Abnormality of the urinary system, Nephrotic syndrome, Nephritis, Dar...	ORPHA:93552
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, B lymphocytopenia, ...	OMIM:301078
Amoebiasis Due To Free-Living Amoebae	Skin ulcer, Increased red blood cell count, Granuloma, Sinusitis, Pustule, Respiratory tract infe...	ORPHA:68
Gaucher Disease, Type Iiic	Hepatomegaly, Pancytopenia, Mitral valve calcification, Mitral stenosis, Splenomegaly, Aortic val...	OMIM:231005
Dpagt1-Cdg	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Prolonged QT interval, Aki...	ORPHA:86309
Acquired Hypertrichosis Lanuginosa	Lymphadenopathy	ORPHA:2221
Neurofibroma	Abnormal biliary tract morphology, Recurrent otitis media, Neoplasm of the trachea, Intestinal bl...	ORPHA:252183
Martinez-Frias Syndrome	Annular pancreas, Hypoplasia of the gallbladder, Pancreatic hypoplasia, Extrahepatic biliary duct...	OMIM:601346
Grfoma	Gastrointestinal hemorrhage, Neoplasm of the pancreas, Intrahepatic cholestasis, Hepatomegaly, Ch...	ORPHA:97261
Proteasome-Associated Autoinflammatory Syndrome 4	Splenomegaly, Hepatomegaly, Lymphadenopathy	OMIM:619183
American Trypanosomiasis	Lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:3386
Cryohydrocytosis	Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:185020
Histiocytoid Cardiomyopathy	Congestive heart failure, Wolff-Parkinson-White syndrome, Atrial flutter, Cardiomegaly, Hepatomeg...	ORPHA:137675
Middle Ear Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy	ORPHA:100084
Cardiac-Urogenital Syndrome	Enlarged kidney, Penoscrotal hypospadias, Accessory spleen, Patent urachus, Micropenis	OMIM:618280
Familial Mediterranean Fever	Pancreatitis, Lymphadenopathy, Pleuritis, Leukocytosis, Ascites, Nephrotic syndrome, Pericarditis...	ORPHA:342
Neurodegeneration And Seizures Due To Copper Transport Defect	Cardiomegaly, Abnormal circulating ceruloplasmin concentration, Abnormal circulating copper conce...	OMIM:620306
Arthrogryposis Multiplex Congenita 5	Akinesia, Cardiac arrest	OMIM:618947
Anemia, Congenital Dyserythropoietic, Type Ia	Hepatomegaly, Macrocytic dyserythropoietic anemia, Anemia of inadequate production, Bite cells, R...	OMIM:224120
Melkersson-Rosenthal Syndrome	Oligosacchariduria, Lymphadenopathy	ORPHA:2483
Cantú Syndrome	Cardiomegaly, Abnormal heart valve morphology, Hypertrophic cardiomyopathy, Patent ductus arteriosus	ORPHA:1517
Fetal Akinesia Deformation Sequence	Akinesia	ORPHA:994
Sarcoidosis, Susceptibility To, 1	Abnormal pulmonary interstitial morphology, Hepatomegaly, Mediastinal lymphadenopathy, Emphysema,...	OMIM:181000
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Acute kidney injury, Glomerulopathy, Jaundice, Abnormality of endocrine pancreas physiology, Apla...	ORPHA:93111
Combined Oxidative Phosphorylation Deficiency 41	Cardiomegaly, Decreased circulating cortisol level, Elevated circulating creatine kinase concentr...	OMIM:618838
Thoracoabdominal Syndrome	Ectopia cordis, Transposition of the great arteries, Hypospadias, Renal agenesis, Pulmonary hypop...	OMIM:313850
Myelofibrosis	Hepatomegaly, Hemophagocytosis, Myeloproliferative disorder, Splenomegaly, Extramedullary hematop...	OMIM:254450
Truncus Arteriosus	Adrenocortical abnormality, Transposition of the great arteries, Aortic regurgitation, Cardiomega...	ORPHA:3384
Infantile Systemic Hyalinosis	Polycystic ovaries, Skin ulcer, Telangiectasia of the skin	ORPHA:2176
Overhydrated Hereditary Stomatocytosis	Jaundice, Hepatomegaly, Increased mean corpuscular volume, Reticulocytosis, Prolonged neonatal ja...	OMIM:185000
16P12.1P12.3 Triplication Syndrome	Abnormal intrahepatic bile duct morphology, Decreased response to growth hormone stimulation test...	ORPHA:485405
Diffuse Cutaneous Mastocytosis	Lymphadenopathy, Hepatomegaly, Abnormality of the spleen	ORPHA:79456
Postencephalitic Parkinsonism	Akinesia	ORPHA:97349
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Autoimmune hemolytic anemia, Reduced red cell adenosine deaminase level, Hepatomegaly, B lymphocy...	OMIM:102700
Chronic Graft Versus Host Disease	Pneumothorax, Skin ulcer, Elevated circulating hepatic transaminase concentration, Keratoconjunct...	ORPHA:99921
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Recurrent lower respiratory tract infections, Renal artery stenosis, Renal hypoplasia, Nephrocalc...	OMIM:617913
Ppoma	Gastrointestinal hemorrhage, Intrahepatic cholestasis, Neoplasm of the pancreas, Hepatomegaly, Ch...	ORPHA:97278
Neuropathy, Hereditary Sensory And Autonomic, Type V	Septic arthritis, Osteoarthritis, Osteomyelitis, Acral ulceration	OMIM:608654
Beck-Fahrner Syndrome	Attention deficit hyperactivity disorder, Ventricular septal defect, Cardiomegaly	OMIM:618798
Proteus Syndrome	Enlarged kidney, Long penis, Neoplasm of the thymus, Renal cyst, Enlarged polycystic ovaries, Lym...	ORPHA:744
Gm2 Gangliosidosis, Ab Variant	Inappropriate behavior, Abnormal fear-induced behavior	ORPHA:309246
Familial Pancreatic Carcinoma	Jaundice, Elevated circulating hepatic transaminase concentration, Peritoneal abscess, Hepatosple...	ORPHA:1333
Cinca Syndrome	Lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:1451
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Splenic cyst, Polycystic kidney dysplasia, Pancreatic hypoplasia, Cholestasis, Panc...	OMIM:610199
Neuroendocrine Tumor Of The Colon	Anorexia, Hepatomegaly, Chronic noninfectious lymphadenopathy	ORPHA:100080
Adult Syndrome	Breast hypoplasia, Skin ulcer, Hypoplastic nipples, Absent nipple, Dry skin	ORPHA:978
Drug Reaction With Eosinophilia And Systemic Symptoms	Nephrotic syndrome, Renal insufficiency, Lymphadenopathy, Tubulointerstitial nephritis	ORPHA:139402
Simpson-Golabi-Behmel Syndrome, Type 1	Enlarged kidney, Hepatomegaly, Hypospadias, Renal cyst, Hydronephrosis, Splenomegaly, Right ventr...	OMIM:312870
Elliptocytosis 1	Elliptocytosis, Jaundice, Splenomegaly, Hemolytic anemia	OMIM:611804
Pulmonary Non-Tuberculous Mycobacterial Infection	Lymphadenopathy	ORPHA:411703
Lig4 Syndrome	Hepatomegaly, Lymphadenopathy, Hypoplasia of penis	ORPHA:99812
Fanconi Anemia, Complementation Group Q	Bone marrow hypocellularity, Biliary atresia	OMIM:615272
Proteasome-Associated Autoinflammatory Syndrome 2	Lymphadenopathy	OMIM:618048
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Akinesia	OMIM:225790
Multiple Myeloma	Acute kidney injury, Anemia, Lymphadenopathy, Abnormality of the bladder, Pleural effusion, Nephr...	ORPHA:29073
Congenital Tracheomalacia	Pneumonia, Patent ductus arteriosus, Pulmonary arterial hypertension, Bronchiectasis, Abnormal he...	ORPHA:95430
Malakoplakia	Skin ulcer, Skin rash, Inflammatory abnormality of the skin, Orchitis, Urinary bladder inflammation	ORPHA:556
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Scaling skin, Skin ulcer, Panniculitis, Chylothorax, Pleural effusion, Dry skin, Erysipelas, Leuk...	ORPHA:2526
Aicardi-Goutières Syndrome	Difficulty walking, Elevated circulating hepatic transaminase concentration, Panniculitis, Myosit...	ORPHA:51
Familial Tumoral Calcinosis	Hepatomegaly, Nephrocalcinosis, Splenomegaly	ORPHA:53715
Kikuchi-Fujimoto Disease	Anorexia, Hepatomegaly, Abnormal lymph node morphology, Lymphadenopathy, Ataxia, Splenomegaly, Ge...	ORPHA:50918
Familial Hemophagocytic Lymphohistiocytosis	Lymphadenopathy, Hepatomegaly, Abnormal renal physiology, Splenomegaly	ORPHA:540
Klatskin Tumor	Hepatomegaly, Lymphadenopathy	ORPHA:99978
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Absent peripheral lymph nodes in presence of infection	ORPHA:98813
Pituitary Adenoma 4, Acth-Secreting	Emotional lability, Abnormal fear-induced behavior, Nephrolithiasis	OMIM:219090
Cyclic Neutropenia	Cervical lymphadenopathy, Lymphadenopathy, Recurrent tonsillitis	ORPHA:2686
Combined Immunodeficiency Due To Crac Channel Dysfunction	Lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:169090
Supranuclear Palsy, Progressive, 2	Akinesia, Gait imbalance, Falls, Memory impairment, Frontolimbic dementia	OMIM:609454
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Cholelithiasis, Decreased testicular size, Recurrent upper respiratory tract infections, Recurren...	OMIM:300534
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Lymphadenopathy, Glomerulonephritis	OMIM:304790
Hajdu-Cheney Syndrome	Hepatomegaly, Skin ulcer, Periodontitis, Dry skin, Aortic valve stenosis, Mitral stenosis, Spleno...	ORPHA:955
Hereditary Acrokeratotic Poikiloderma	Skin ulcer, Keratoconjunctivitis, Eczematoid dermatitis, Pustule, Telangiectasia of the skin, Ery...	ORPHA:2907
Proteasome-Associated Autoinflammatory Syndrome 1	Hypertriglyceridemia, Congestive heart failure, Decreased HDL cholesterol concentration, Hepatome...	OMIM:256040
Peutz-Jeghers Syndrome	Neoplasm of the pancreas, Iron deficiency anemia, Precocious puberty with Sertoli cell tumor, Bil...	OMIM:175200
Graft Versus Host Disease	Irritability, Hepatosplenomegaly, Lymphadenopathy	ORPHA:39812
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Cardiomegaly, Telangiectasia of the skin, Telangiectasia of the oral mucosa, Lip telangiectasia	ORPHA:79280
Gaucher Disease	Abnormal pulmonary interstitial morphology, Cirrhosis, Hepatomegaly, Increased circulating antibo...	ORPHA:355
Lysinuric Protein Intolerance	Hepatomegaly, Pancreatitis, Hemophagocytosis, Anemia, Oroticaciduria, Intraalveolar phospholipid ...	OMIM:222700
Developmental And Epileptic Encephalopathy 95	Hepatomegaly, Inability to walk, Gait disturbance, Ataxia, Low alkaline phosphatase, Cardiomegaly...	OMIM:618143
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Cardiomegaly, Mucosal telangiectasiae, Abnormal thymus morphology	ORPHA:2463
Peroxisome Biogenesis Disorder 12A (Zellweger)	Elevated circulating hepatic transaminase concentration, Cholelithiasis, Hepatic failure	OMIM:614886
Chronic Visceral Acid Sphingomyelinase Deficiency	Decreased liver function, Abnormal pulmonary interstitial morphology, Cirrhosis, Hepatomegaly, Ch...	ORPHA:77293
Neuroendocrine Tumor Of The Rectum	Anorexia, Hepatomegaly, Chronic noninfectious lymphadenopathy	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Anorexia, Hepatomegaly, Chronic noninfectious lymphadenopathy	ORPHA:100082
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Hepatosplenomegaly, Lymphadenopathy	ORPHA:169154
Supranuclear Palsy, Progressive, 1	Akinesia, Gait imbalance, Falls, Memory impairment, Frontolimbic dementia	OMIM:601104
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Pancreatitis, Vacuolated lymphocytes, Renal artery atherosclerosis, Cardiomyopathy,...	ORPHA:565612
Hyper-Igd Syndrome	Lymphadenopathy, Lymphadenitis, Hepatosplenomegaly, Splenomegaly, Elevated urine mevalonic acid l...	OMIM:260920
Say-Barber-Miller Syndrome	Abnormal T cell morphology, Panniculitis, Decreased circulating antibody level, Eczematoid dermat...	ORPHA:3132
Macrophage Activation Syndrome	Lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:158061
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:436159
Bronchial Neuroendocrine Tumor	Anorexia, Hepatomegaly, Chronic noninfectious lymphadenopathy	ORPHA:97287
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Delayed puberty, Patent foramen ovale, Ventricular septal defect, Left ventricular noncompaction ...	OMIM:300967
Lymphangioleiomyomatosis	Renal neoplasm, Hematuria, Lymphadenopathy, Abnormality of the lymphatic system, Multiple renal c...	ORPHA:538
Immunodeficiency With Hyper-Igm, Type 1	Absence of lymph node germinal center, Enlarged tonsils, Splenomegaly, Hepatomegaly	OMIM:308230
Insensitivity To Pain, Congenital, With Anhidrosis	Keratitis, Osteomyelitis, Acral ulceration, Postural hypotension with compensatory tachycardia	OMIM:256800
Cimdag Syndrome	Microvesicular hepatic steatosis, Hepatomegaly, Cholelithiasis	OMIM:619273
Neurodegeneration With Brain Iron Accumulation 1	Akinesia, Gait disturbance, Ataxia, Dementia, Choreoathetosis, Mental deterioration	OMIM:234200
Congenital Total Pulmonary Venous Return Anomaly	Cardiomegaly, Mixed total anomalous pulmonary venous connection, Transposition of the great arter...	ORPHA:99125
Distal Duplication 5Q	Eczematoid dermatitis, Cryptorchidism, Aplasia/Hypoplasia of the gallbladder	ORPHA:96097
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Hilar lymph node enlargement, Hepatomegaly, Mediastinal lymphadenopathy, Lethargy	OMIM:620233
Carney Triad	Anorexia, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:139411
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Enlarged tonsils, Hepatosplenomegaly, Lymphadenopathy	OMIM:606367
Fucosidosis	Spastic gait, Hepatomegaly, Reduced circulating alpha-L-fucosidase activity, Splenomegaly, Cardio...	OMIM:230000
Leprosy	Iritis, Acral ulceration, Penetrating foot ulcers, Epistaxis, Abnormality of the spleen, Testicul...	ORPHA:548
Porphyria, Congenital Erythropoietic	Jaundice, Hepatomegaly, Cholelithiasis, Thrombocytopenia, Splenomegaly, Conjunctivitis, Reduced e...	OMIM:263700
Immunodeficiency, Common Variable, 8, With Autoimmunity	Lymphadenopathy, Generalized lymphadenopathy, Splenomegaly	OMIM:614700
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive	Foot osteomyelitis, Acral ulceration	OMIM:256840
Cushing Syndrome Due To Ectopic Acth Secretion	Purpura, Acne, Small cell lung carcinoma, Skin ulcer, Decreased eosinophil count, Pheochromocytom...	ORPHA:99889
Riddle Syndrome	Emotional lability, Enuresis nocturna, Gait disturbance, Ataxia, Generalized lymphadenopathy	ORPHA:420741
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Gastrointestinal inflammation, Skin ulcer, Elevated circulating hepatic transaminase concentratio...	ORPHA:95455
Behçet Disease	Anorexia, Irritability, Glomerulopathy, Lymphadenopathy, Gait disturbance, Ataxia, Splenomegaly, ...	ORPHA:117
Lathosterolosis	Bilobate gallbladder, Anisopoikilocytosis, Intrahepatic cholestasis, Elevated circulating alanine...	OMIM:607330
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Absence of lymph node germinal center, Urinary retention, Hepatosplenomegaly, Hepatomegaly	ORPHA:79124
Williams Syndrome	Chronic otitis media, Abnormal circulating lipid concentration, Hypertension, Cerebral ischemia, ...	ORPHA:904
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Pancreatitis, Cardiomegaly, Inability to walk, Patent foramen ovale, Tricuspid regurgitation, Ret...	OMIM:620371
Proteasome-Associated Autoinflammatory Syndrome 3	Lymphadenopathy, Hepatomegaly, Splenomegaly	OMIM:617591
Acute Generalized Exanthematous Pustulosis	Renal insufficiency, Lymphadenopathy	ORPHA:293173
Trichohepatoneurodevelopmental Syndrome	Decreased liver function, Hepatomegaly, Recurrent otitis media, Cholelithiasis, Hypoplastic nippl...	OMIM:618268
Systemic Lupus Erythematosus	Anorexia, Hematuria, Lymphadenopathy, Pyuria, Depression, Proteinuria, Lupus nephritis	ORPHA:536
Parkes Weber Syndrome	Scaling skin, Skin ulcer, Subarachnoid hemorrhage, Bounding pulse, High-output congestive heart f...	ORPHA:90307
Oculocerebrorenal Syndrome Of Lowe	Chronic otitis media, Cheilitis, Skin ulcer, Atelectasis, Anemia, Periodontitis, Arthritis, Throm...	ORPHA:534
Acute Interstitial Pneumonia	Lymphadenopathy	ORPHA:79126
Mogs-Cdg	Hepatomegaly, Inappropriate antidiuretic hormone secretion, Hypothyroidism, Hepatosplenomegaly, L...	ORPHA:79330
Cerebrotendinous Xanthomatosis	Angina pectoris, Myocardial infarction, Cholelithiasis	OMIM:213700
Poems Syndrome	Lymphadenopathy, Hepatomegaly, Visceromegaly, Splenomegaly	ORPHA:2905
Atypical Werner Syndrome	Congestive heart failure, Skin ulcer, Ovarian neoplasm, Hypertension, Abnormal testis morphology,...	ORPHA:79474
Agammaglobulinemia, X-Linked	Recurrent urinary tract infections, Lymph node hypoplasia	OMIM:300755
22Q11.2 Deletion Syndrome	Abnormal lung lobation, Chronic otitis media, Gastrointestinal hemorrhage, Corneal neovasculariza...	ORPHA:567
Hennekam Syndrome	Ectopic kidney, Lymphadenopathy, Lymphangioma, Splenomegaly, Pulmonary lymphangiectasia, Horsesho...	ORPHA:2136
Basel-Vanagaite-Smirin-Yosef Syndrome	Pulmonary arterial hypertension, Recurrent pneumonia, Cholelithiasis	ORPHA:464738
Metachromatic Leukodystrophy	Neoplasm of the gallbladder, Hemobilia, Abnormal gallbladder morphology	ORPHA:512
Congenital Alveolar Capillary Dysplasia	Annular pancreas, Pulmonary arterial hypertension, Asplenia, Aortic valve stenosis, Absent gallbl...	ORPHA:210122
Fucosidosis	Cardiomegaly, Hepatomegaly, Hypothyroidism	ORPHA:349
Pancreatoblastoma	Abnormal lymph node morphology	ORPHA:677
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Lymphadenopathy, Nephrotic syndrome, Splenomegaly, Membranous nephropathy, Tubulointerstitial nep...	ORPHA:37042
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous	Skin ulcer	OMIM:245660
Farber Disease	Hepatosplenomegaly, Lymphadenopathy	ORPHA:333
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Bicuspid aortic valve, Patent foramen ovale, Mitral valve prolapse, Left ventricular hypertrophy,...	OMIM:245600
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Recurrent otitis media, Hepatomegaly, Cholelithiasis, Hepatosplenomegaly, Cholecystitis	OMIM:301066
Bohring-Opitz Syndrome	Cardiomegaly, Inability to walk, Abnormal cardiac septum morphology, Bradycardia	ORPHA:97297
Pulmonary Capillary Hemangiomatosis	Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:199241
Paternal Uniparental Disomy Of Chromosome 6	Postnatal growth retardation, Hepatomegaly, Precocious puberty, Patent ductus arteriosus, Cardiom...	ORPHA:96191
Trisomy 8P	Abnormal lung lobation, Annular pancreas, Heart murmur, Recurrent upper respiratory tract infecti...	ORPHA:264450
Lethal Congenital Contracture Syndrome 10	Cardiomegaly, Overriding aorta, Ventricular septal defect, Hypoplasia of the thymus	OMIM:617022
Spondyloenchondrodysplasia With Immune Dysregulation	Tubulointerstitial fibrosis, Lymphadenopathy	OMIM:607944
Congenital Syphilis	Nephrotic syndrome, Hepatosplenomegaly, Lymphadenopathy	ORPHA:499009
Chime Syndrome	Acute leukemia, Skin ulcer, Erythema	ORPHA:3474
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Abnormal fear-induced behavior, Hypospadias, Emotional lability, Recurrent urinary tract infectio...	ORPHA:353281
Neuropathy, Hereditary Sensory And Autonomic, Type Iia	Acral ulceration	OMIM:201300
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Hepatomegaly, Lymphadenopathy, Accessory spleen, Splenomegaly, Polysplenia	OMIM:619418
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Lymphadenopathy	OMIM:617099
T-Cell Immunodeficiency With Thymic Aplasia	Recurrent urinary tract infections, Lymphadenopathy, Aplasia of the thymus	ORPHA:83471
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Lymphadenopathy, Chronic noninfectious lymphadenopathy, Bone marrow hypocellularity...	ORPHA:3261
Coccidioidomycosis	Abnormality of the kidney, Mediastinal lymphadenopathy, Lymphadenopathy, Abnormality of the bladd...	ORPHA:228123
8P Inverted Duplication/Deletion Syndrome	Cryptorchidism, Aplasia/Hypoplasia of the gallbladder	ORPHA:96092
Malt Lymphoma	Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:52417
Selective Igm Deficiency	Recurrent urinary tract infections, Lymphadenitis, Lymphadenopathy	ORPHA:331235
Familial Adenomatous Polyposis	Pancreatitis, Pancreatic adenocarcinoma, Neoplasm of the gallbladder, Biliary tract obstruction, ...	ORPHA:733
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Generalized lymphadenopathy	OMIM:620232
Ileal Neuroendocrine Tumor	Hydronephrosis, Lymphadenopathy	ORPHA:100078
Immunodeficiency 31C	Lymphadenopathy, Hepatomegaly, Splenomegaly	OMIM:614162
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Cyst of the ductus choledochus	OMIM:619480
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Anterior pituitary agenesis, Biliary atresia, Pancreatic hypoplasia, Pancreatic aplasia, Pulmonar...	ORPHA:2255
Yunis-Varon Syndrome	Postnatal growth retardation, Hypertension, Cardiomyopathy, Pulmonary arterial hypertension, Reno...	ORPHA:3472
Generalized Arterial Calcification Of Infancy	Left ventricular systolic dysfunction, Elevated alkaline phosphatase of bone origin, Hypophosphat...	ORPHA:51608
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Cyst of the ductus choledochus, Recurrent upper and lower respiratory tract infections, Cardiomyo...	ORPHA:480880
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Anemia, Thrombocytopenia, Intracranial hemorrhage, Heart murmur, Absent gallbladder, Cryptorchidism	ORPHA:163979
Marburg Hemorrhagic Fever	Anorexia, Lymphadenopathy, Renal insufficiency, Lethargy, Aggressive behavior	ORPHA:99826
Chikungunya	Depression, Cervical lymphadenopathy, Lymphadenopathy	ORPHA:324625
Charcot-Marie-Tooth Disease Type 4B2	Penetrating foot ulcers	ORPHA:99956
Sarcoidosis	Hepatomegaly, Abnormal lymph node morphology, Lymphadenopathy, Hypercalciuria, Nephrolithiasis, N...	ORPHA:797
Neuroendocrine Neoplasm Of Appendix	Anorexia, Hepatomegaly, Chronic noninfectious lymphadenopathy	ORPHA:100079
Crimean-Congo Hemorrhagic Fever	Anorexia, Agitation, Hepatomegaly, Hematuria, Lymphadenopathy, Emotional lability, Splenomegaly, ...	ORPHA:99827
Tetrasomy 9P	Jaundice, Biliary atresia, Myositis, Arthritis, Pulmonary arterial hypertension, Pericarditis, Pu...	ORPHA:3310
Igg4-Related Submandibular Gland Disease	Abnormality of the kidney, Renal insufficiency, Lymphadenopathy	ORPHA:449432
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Cervical lymphadenopathy, Lymphadenopathy	OMIM:617718
Tangier Disease	Orange discolored tonsils, Hepatosplenomegaly, Chronic noninfectious lymphadenopathy, Left ventri...	ORPHA:31150
Cutis Laxa, Autosomal Recessive, Type Ib	Pulmonary insufficiency, Bradycardia, Tricuspid regurgitation, Pulmonary arterial hypertension, R...	OMIM:614437
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Abnormality of the kidney, Abnormal fear-induced behavior, Hypospadias, Emotional lability, Recur...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Abnormality of the kidney, Abnormal fear-induced behavior, Hypospadias, Emotional lability, Recur...	ORPHA:353277
Viss Syndrome	Atrial septal defect, Epidural hemorrhage, Patent ductus arteriosus, Chronic gastritis, Patent fo...	OMIM:619472
Steinert Myotonic Dystrophy	Decreased response to growth hormone stimulation test, Left ventricular systolic dysfunction, Ele...	ORPHA:273
Leptospirosis	Anorexia, Acute kidney injury, Hepatomegaly, Lymphadenopathy, Cellular urinary casts	ORPHA:509
Cerebrotendinous Xanthomatosis	Abnormal lung morphology, Cholelithiasis, Prolonged neonatal jaundice	ORPHA:909
Immunodeficiency 55	Lymphadenopathy	OMIM:617827
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Hepatosplenomegaly, Lymphadenopathy	ORPHA:85408
Singleton-Merten Syndrome 1	Congestive heart failure, Waddling gait, Mitral valve calcification, Aortic valve stenosis, Aorti...	OMIM:182250
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Absent peripheral lymph nodes in presence of infection	OMIM:600802
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hepatomegaly, Ventricular hypertrophy, Unconjugated hyperbilirubinemia, Hepatosplenomegaly, Cardi...	OMIM:618278
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Lymphadenopathy, Splenomegaly	ORPHA:32960
Immunodeficiency 82 With Systemic Inflammation	Follicular hyperplasia, Lymphadenopathy, Splenomegaly, Anorexia	OMIM:619381
Distal Deletion 12Q	Annular pancreas, Late onset atopic dermatitis, Biliary atresia, Unilateral cryptorchidism, Pitui...	ORPHA:96149
Heart Defects, Congenital, And Other Congenital Anomalies	Biliary atresia, Pancreatic hypoplasia, Pulmonary artery stenosis, Pulmonic stenosis, Absent gall...	OMIM:600001
Pancreatic Agenesis-Holoprosencephaly Syndrome	Absent gallbladder, Pancreatic aplasia	ORPHA:556955
Autosomal Recessive Malignant Osteopetrosis	Lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:667
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Absent gallbladder, Pulmonary hypoplasia	OMIM:617925
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Absent gallbladder, Elevated circulating alanine aminotransferase concentration, Exocrine pancrea...	OMIM:618500
Craniofacioskeletal Syndrome	Absent gallbladder, Cryptorchidism	OMIM:300712
Igg4-Related Dacryoadenitis And Sialadenitis	Lymphadenopathy, Tubulointerstitial nephritis	ORPHA:79078
Igg4-Related Ophthalmic Disease	Abnormality of the kidney, Lymphadenopathy	ORPHA:449563
Steinfeld Syndrome	Absent gallbladder	OMIM:184705
Pmm2-Cdg	Abnormal liver parenchyma morphology, Elevated circulating hepatic transaminase concentration, An...	ORPHA:79318
Trisomy 10P	Absent gallbladder	ORPHA:171929
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Absent gallbladder	ORPHA:3186
Ring Chromosome 13 Syndrome	Hypoplasia of the gallbladder	ORPHA:96176
Peters-Plus Syndrome	Bilobate gallbladder, Biliary tract abnormality, Cryptorchidism, Pulmonic stenosis	OMIM:261540

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

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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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