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Gene: Serpine1 MGI:97608

Gene Summary

Name:

serine (or cysteine) peptidase inhibitor, clade E, member 1

Synonyms:

PAI1, PAI-1, Planh1

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	System	Allele	Zyg	Sex	Life Stage	P Value
enlarged lymph nodes		Serpine1^em1(IMPC)Tcp	HOM		Early adult	0.00
abnormal sternum morphology		Serpine1^em1(IMPC)Tcp	HOM		Early adult	0.00

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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.

Eye Morphology

Images Ophthalmoscopy

88 Images

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Eye Morphology

Images Slit Lamp

46 Images

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Gross Pathology and Tissue Collection

Images

9 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Human diseases caused by Serpine1 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 Serpine1 (2 diseases)
Human diseases predicted to be associated with Serpine1 (1089 diseases)

The table below shows human diseases associated to Serpine1 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency		Gastrointestinal hemorrhage, Epidural hemorrhage, Prolonged bleeding after dental extraction, Epi...	ORPHA:465
Plasminogen Activator Inhibitor-1 Deficiency		Abnormal bleeding, Menorrhagia	OMIM:613329

The table below shows human diseases predicted to be associated to Serpine1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Mannose-Binding Lectin Deficiency	Recurrent herpes, Recurrent skin infections, Disseminated cryptosporidium infection, Recurrent Kl...	OMIM:614372
Maturity-Onset Diabetes Of The Young, Type 3	Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young	OMIM:600496
Maturity-Onset Diabetes Of The Young, Type 10	Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young	OMIM:613370
Immunodeficiency 51	Recurrent respiratory infections, Recurrent skin infections, Pneumonia, Eczema, Pustule, Chronic ...	OMIM:613953
Familial Apolipoprotein Gene Cluster Deletion Syndrome	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:620058
Immunodeficiency 34	Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis	OMIM:300645
Complement Component 7 Deficiency	Recurrent Neisserial infections, Recurrent meningococcal disease	OMIM:610102
Glycogen Storage Disease 0, Liver	Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia	OMIM:240600
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction	Ventricular septal defect, Portal inflammation, Elevated circulating alanine aminotransferase con...	OMIM:613759
Immunodeficiency 91 And Hyperinflammation	Acute hepatic failure, Elevated circulating C-reactive protein concentration, Hepatomegaly, Membr...	OMIM:619644
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Recurrent bacterial infections, Recurrent protozoan infections, Recurrent viral infections	OMIM:308220
Hyperproinsulinemia	Hyperglycemia, Hyperinsulinemia	OMIM:616214
Immunodeficiency 30	Recurrent mycobacterial infections, Recurrent infections	OMIM:614891
Complement Factor D Deficiency	Recurrent bacterial infections	OMIM:613912
Autoinflammatory-Pancytopenia Syndrome	Pancytopenia, Membranoproliferative glomerulonephritis, Proteinuria, Intestinal inflammation, Chi...	OMIM:619858
Lipodystrophy, Partial, Acquired, Susceptibility To	Membranoproliferative glomerulonephritis, Proteinuria, Hematuria, Nephrotic syndrome, Progressive...	OMIM:608709
Interstitial Nephritis, Karyomegalic	Renal tubular cyst, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic k...	OMIM:614817
Diabetes Mellitus, Permanent Neonatal, 4	Elevated hemoglobin A1c, Reduced C-peptide level, Diabetic ketoacidosis, Type I diabetes mellitus...	OMIM:618858
Idiopathic Non-Lupus Full-House Nephropathy	Glomerular C3 deposition, Renal insufficiency, Skin rash, Glomerulonephritis, Microscopic hematur...	ORPHA:567544
Complement Component 6 Deficiency	Recurrent meningococcal disease	OMIM:612446
Complement Component 8 Deficiency, Type Ii	Recurrent Neisserial infections, Meningitis	OMIM:613789
Immunodeficiency, Common Variable, 6	Hepatomegaly, Recurrent respiratory infections, Decreased specific pneumococcal antibody level, G...	OMIM:613496
Nephrotic Syndrome, Type 7	Hemolytic anemia, Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrom...	OMIM:615008
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Proteinuria,...	OMIM:617006
Diabetes Mellitus, Transient Neonatal, 3	Elevated hemoglobin A1c, Maternal diabetes, Reduced C-peptide level, Transient neonatal diabetes ...	OMIM:610582
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Autoimmune hemolytic anemia, Glomerulonephritis, Pneumonia, Plasmacytosis, Increased circulating ...	OMIM:247800
Type 1 Diabetes Mellitus	Hyperglycemia, Diabetes mellitus, Polyuria, Decreased level of 1,5 anhydroglucitol in serum	OMIM:222100
Maturity-Onset Diabetes Of The Young, Type 13	Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet...	OMIM:616329
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c...	OMIM:619658
Hypertriglyceridemia, Transient Infantile	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Elevated gamma-gluta...	OMIM:614480
Autoimmune Interstitial Lung, Joint, And Kidney Disease	Elevated circulating C-reactive protein concentration, Mesangial hypercellularity, Dyspnea, Tachy...	OMIM:616414
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Hyperlipidemia, Hyperinsulinemia, Hyperglycemia	ORPHA:329249
Essential Fructosuria	Abnormal urine carbohydrate level, Hyperglycemia	ORPHA:2056
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Elevated circulating C-reactive...	OMIM:615559
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Abnormal lymph node morphology	OMIM:136580
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis	Membranoproliferative glomerulonephritis, Lipodystrophy, Proteinuria, Hematuria, Nephrotic syndro...	OMIM:613913
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Recurrent bacterial infections, Recurrent staphylococcal infections, Recurrent streptococcus pneu...	ORPHA:70592
Neutropenia, Severe Congenital, 6, Autosomal Recessive	Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections	OMIM:616022
Ficolin 3 Deficiency	Recurrent Staphylococcus aureus infections, Recurrent lower respiratory tract infections, Recurre...	OMIM:613860
Hemochromatosis, Type 2B	Elevated hepatic transaminase, Hepatomegaly, Congestive heart failure, Splenomegaly, Cardiomyopat...	OMIM:613313
Diabetes Mellitus, Permanent Neonatal, 1	Diabetes mellitus, Elevated hemoglobin A1c, Reduced C-peptide level, Type I diabetes mellitus, Hy...	OMIM:606176
Myelolymphatic Insufficiency	Recurrent bacterial infections, Recurrent viral infections	OMIM:310350
Immunodeficiency, Common Variable, 5	Recurrent respiratory infections, Recurrent bacterial infections	OMIM:613495
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	Recurrent bacterial infections, Recurrent candida infections	OMIM:242870
Diabetes Mellitus, Transient Neonatal, 1	Transient neonatal diabetes mellitus, Hyperglycemia	OMIM:601410
Dietary Iron Overload Disease	Viral hepatitis, Hepatomegaly, Hepatocellular carcinoma, Chronic infection, Congestive heart fail...	ORPHA:139507
Pulmonary Blastoma	Pleuropulmonary blastoma, Dyspnea, Recurrent pneumonia, Weight loss, Cough	ORPHA:64741
Idiopathic Achalasia	Bronchitis, Wheezing, Weight loss, Cough, Decreased prealbumin level, Recurrent aspiration pneumonia	ORPHA:930
Cystic Echinococcosis	Abnormal peritoneum morphology, Renal cyst, Elevated gamma-glutamyltransferase level, Peritoneal ...	ORPHA:400
C3 Glomerulopathy	Membranoproliferative glomerulonephritis, Proteinuria, Lipodystrophy, Mesangial hypercellularity,...	ORPHA:329918
C3 Glomerulopathy 3	Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St...	OMIM:614809
Nephrotic Syndrome, Type 23	Proteinuria, Mesangial hypercellularity, Minimal change glomerulonephritis, Focal segmental glome...	OMIM:619201
Idiopathic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Abnormal circulating lipid concentration, Hypertriglyceridemia, Foam...	ORPHA:567548
Cd8 Deficiency, Familial	Recurrent respiratory infections, Recurrent bacterial infections, Bronchiectasis, Recurrent viral...	OMIM:608957
Immunodeficiency 28	Recurrent mycobacterial infections	OMIM:614889
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitrogen	OMIM:620085
Diabetes Mellitus, Permanent Neonatal, 2	Type I diabetes mellitus, Reduced C-peptide level, Hyperglycemia	OMIM:618856
Neutrophil Actin Dysfunction	Recurrent bacterial infections	OMIM:257150
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Tegumentary leishmaniasis susceptibility, Pneumonia, Recurrent mycobacterial infections, BCGosis,...	ORPHA:319552
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies	Glucose intolerance, Hyperglycemia	OMIM:307500
Butyrylcholinesterase Deficiency	Respiratory failure requiring assisted ventilation, Abnormal circulating enzyme concentration or ...	ORPHA:132
Immunodeficiency 38 With Basal Ganglia Calcification	Recurrent mycobacterial infections	OMIM:616126
Nephrotic Syndrome, Type 15	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Hypoalbuminemia, ...	OMIM:617609
Immunodeficiency 31A	Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent...	OMIM:614892
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Cirrhosis, Hepato...	ORPHA:369
Immunodeficiency 31B	Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections	OMIM:613796
Bacterial Toxic-Shock Syndrome	Respiratory distress, Fasciitis, Sinusitis, Myositis, Elevated circulating creatine kinase concen...	ORPHA:36234
Complement Factor B Deficiency	Pneumonia, Peritonitis, Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease	OMIM:615561
Fadd-Related Immunodeficiency	Ventricular septal defect, Hepatic fibrosis, Decreased liver function	ORPHA:306550
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Glomerulonephritis, Crackles, Nodular pattern on pulmonary HRCT, Diffuse alveolar h...	ORPHA:99931
Focal Segmental Glomerulosclerosis 10	Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea...	OMIM:256020
Glycogen Storage Disease Iii	Elevated hepatic transaminase, Ventricular hypertrophy, Hepatomegaly, Cardiomyopathy, Hepatic fib...	OMIM:232400
Immunodeficiency 110 With Lymphoproliferation	Recurrent skin infections, Recurrent viral infections, Secundum atrial septal defect, Recurrent p...	OMIM:614868
Simple Cryoglobulinemia	Monoclonal elevation of circulating IgA, Myocardial infarction, Mesangial hypercellularity, Abnor...	ORPHA:91139
Lipodystrophy, Familial Partial, Type 3	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Maternal diabetes, Insulin resista...	OMIM:604367
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,...	OMIM:619662
Immunodeficiency 84	Splenomegaly, Recurrent bacterial infections, Perianal abscess, Persistent EBV viremia	OMIM:619437
Nephrotic Syndrome, Type 16	Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis	OMIM:617783
Complement Component 3 Deficiency, Autosomal Recessive	Recurrent bacterial infections, Recurrent pneumonia, Membranoproliferative glomerulonephritis, Re...	OMIM:613779
Cholesteryl Ester Storage Disease	Acute hepatic failure, Hepatic steatosis, Hepatomegaly, Elevated circulating aspartate aminotrans...	OMIM:278000
Combined Oxidative Phosphorylation Deficiency 34	Elevated circulating creatinine concentration, Hypoglycemia, Increased blood urea nitrogen	OMIM:617872
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Respiratory distress, Myositis, Abnormal blood ion concentration, Tubulointerstitial nephritis, I...	ORPHA:37042
Hemorrhagic Fever-Renal Syndrome	Respiratory distress, Increased circulating interleukin 6 concentration, Anuria, Acute tubulointe...	ORPHA:340
Bile Acid Synthesis Defect, Congenital, 5	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Portal ...	OMIM:616278
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Hypoglycemia, Insulin-resistant diabetes mellitus, Long penis, Hyperinsulinemia, Diabetic ketoaci...	OMIM:262190
Gallbladder Disease 1	Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Elevated ...	OMIM:600803
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Ketonuria, Ketotic hypoglycemia, Hyperlipidemia, Glycosuria, Postprandial hyperglycemia	ORPHA:2089
Nephrotic Syndrome, Type 10	Nephrotic syndrome, Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minim...	OMIM:615861
Hypertriglyceridemia 2	Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:619324
Coach Syndrome 2	Elevated hepatic transaminase, Congenital hepatic fibrosis, Hypertension, Apneic episodes in infa...	OMIM:619111
Immunodeficiency 35	Recurrent respiratory infections, Recurrent mycobacterial infections, Recurrent fungal infections...	OMIM:611521
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Alopecia, Glomerulonephritis, Eczema, Autoimmune thrombocytopenia, Eosinophilia, Thrombocytopenia...	OMIM:304790
Preeclampsia	Elevated hepatic transaminase, Increased body mass index, Proteinuria, Small for gestational age,...	ORPHA:275555
Membranoproliferative Glomerulonephritis, X-Linked	Membranoproliferative glomerulonephritis, Lipodystrophy, Cardiac shunt	OMIM:305800
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction	Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young	OMIM:609812
Lysinuric Protein Intolerance	Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Renal fibrosis, Leukopenia...	ORPHA:470
Autoinflammation, Immune Dysregulation, And Eosinophilia	Eosinophilic liver infiltration, Eosinophilia, Asthma, Atopic dermatitis, Hepatosplenomegaly, Mem...	OMIM:618999
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization	Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis	ORPHA:69063
Hemochromatosis, Neonatal	Abnormal bleeding, Cholestasis, Hepatocellular necrosis, Hepatic fibrosis, Cirrhosis, Prolonged n...	OMIM:231100
Familial Renal Glucosuria	Elevated hemoglobin A1c, Insulin resistance, Renal tubular dysfunction, Enuresis, Glycosuria, Nep...	ORPHA:69076
Genetic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Respira...	ORPHA:656
Immunodeficiency, Common Variable, 4	Recurrent bacterial infections, Recurrent pneumonia, Recurrent sinusitis	OMIM:613494
Hepatoportal Sclerosis	Abnormal bleeding, Gastrointestinal hemorrhage, Elevated hepatic transaminase, Portal hypertensio...	ORPHA:64743
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Hyperlipidemia, Mildly elevated creatine kinase, Hyperglycemia	OMIM:604484
Nephrotic Syndrome, Type 11	Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Dilated cardiomyopat...	OMIM:616730
Transient Neonatal Diabetes Mellitus	Maternal diabetes, Maturity-onset diabetes of the young, Transient neonatal diabetes mellitus, Di...	ORPHA:99886
Hyperinsulinism Due To Insr Deficiency	Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen...	ORPHA:263458
Preeclampsia/Eclampsia 1	Elevated hepatic transaminase, Hypertension, Proteinuria, Thrombocytopenia	OMIM:189800
Nephrotic Syndrome, Type 6	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g...	OMIM:614196
Cardiomyopathy, Familial Hypertrophic, 15	Hyperdynamic left ventricular ejection fraction, Congestive heart failure, Myofiber disarray, Lef...	OMIM:613255
Heme Oxygenase 1 Deficiency	Hepatomegaly, Hemolytic anemia, Increased circulating interleukin 6 concentration, Proteinuria, E...	OMIM:614034
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib...	OMIM:613812
Porphyria Cutanea Tarda, Type I	Hepatic fibrosis, Eczema	OMIM:176090
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatomegaly, Hepatic bridging fibrosis, Splenomegaly, Hepatic fibrosis, Hepatic failure	OMIM:616719
Pancreatic Lipase Deficiency	Steatorrhea, Hypocholesterolemia	OMIM:614338
Schimke Immuno-Osseous Dysplasia	Neutropenia, Nephropathy, Nephrotic range proteinuria, Minimal change glomerulonephritis, Decreas...	ORPHA:1830
Pgm3-Cdg	Abnormal CD4:CD8 ratio, Leukopenia, T lymphocytopenia, Increased circulating IgG level, Neutropen...	ORPHA:443811
Hepatorenocardiac Degenerative Fibrosis	Elevated hepatic transaminase, Portal hypertension, Hypersplenism, Jaundice, Hepatosplenomegaly, ...	OMIM:619902
Glycogen Storage Disease Vi	Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia, Hypoglycemia	OMIM:232700
Igg4-Related Kidney Disease	Elevated circulating C-reactive protein concentration, Lymphadenitis, Abnormal lung morphology, R...	ORPHA:449395
Focal Segmental Glomerulosclerosis 1	Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ...	OMIM:603278
Immunodeficiency, Common Variable, 2	Hepatomegaly, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Recurrent bacterial infections, ...	OMIM:240500
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive	Hyperglycemia	OMIM:618970
Mody	Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu...	ORPHA:552
Cholestasis, Progressive Familial Intrahepatic, 6	Elevated hepatic transaminase, Bleeding requiring red cell transfusion, Intrahepatic cholestasis,...	OMIM:619484
Renal Failure, Progressive, With Hypertension	Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ...	OMIM:161900
Postinfectious Vasculitis	Elevated circulating C-reactive protein concentration, Gastrointestinal inflammation, Bacterial e...	ORPHA:48435
Isolated Congenital Hypoglossia/Aglossia	Respiratory distress, Dyspnea, Upper airway obstruction, Weight loss, Aspiration pneumonia	ORPHA:141152
Agammaglobulinemia 2, Autosomal Recessive	Recurrent respiratory infections, Recurrent pneumonia, Recurrent bacterial infections, Recurrent ...	OMIM:613500
Immunodeficiency 61	Recurrent respiratory infections, Frequent Giardia lamblia infestation, Recurrent bacterial infec...	OMIM:300310
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Hematuria, Glomerulonephritis, Thrombocytopenia, Increased circulating IgA level	OMIM:314000
Obesity	Increased waist to hip ratio, Obesity, Decreased resting energy expenditure	OMIM:601665
Heparin-Induced Thrombocytopenia	Increased inflammatory response, Myocardial infarction, Pulmonary embolism, Abnormal onset of ble...	ORPHA:3325
Reticuloendotheliosis, X-Linked	Hepatosplenomegaly, Lymphadenopathy	OMIM:312500
Citrullinemia, Type Ii, Adult-Onset	Portal inflammation, Elevated circulating alanine aminotransferase concentration, Ballooning hepa...	OMIM:603471
Bare Lymphocyte Syndrome, Type Ii	Viral hepatitis, Chronic lymphocytic meningitis, Recurrent urinary tract infections, Cholangitis,...	OMIM:209920
Nephronophthisis 16	Situs inversus totalis, Patent ductus arteriosus, Cholestasis, Periportal fibrosis, Aortic valve ...	OMIM:615382
Loeffler Endocarditis	Abnormal cardiomyocyte morphology, Endocardial fibrosis, Cough, Abnormal morphology of the chorda...	ORPHA:75566
Autoimmune Hepatitis	Elevated hepatic transaminase, Viral hepatitis, Gastrointestinal hemorrhage, Diffuse hepatic stea...	ORPHA:2137
Systemic Lupus Erythematosus	Hemolytic anemia, Pericarditis, Lupus nephritis, Arthritis, Leukopenia, Pleuritis, Malar rash, Ne...	OMIM:152700
Majeed Syndrome	Hepatomegaly, Inflammatory abnormality of the skin, Osteomyelitis, Acne, Proteinuria, Cachexia, F...	ORPHA:77297
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Chronic sinusitis, Recurrent bronchitis, Recurrent Haemophilus influenzae infections, Otitis media	OMIM:300455
Thymoma	Myositis, Aplastic anemia, Glomerulonephritis, Pure red cell aplasia, Dyspnea, Imbalanced hemoglo...	ORPHA:99867
Immunodeficiency, Common Variable, 3	Recurrent respiratory infections, Recurrent bacterial infections, Conjunctivitis, Recurrent sinus...	OMIM:613493
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Cerebral vasculitis, Recurrent sinopulmonary infections, Eczema, Subarachnoid hemorrhage, Recurre...	OMIM:243700
Lipodystrophy, Familial Partial, Type 1	Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Hyperglycemia	OMIM:608600
Pauci-Immune Glomerulonephritis	Renal interstitial immunoglobulin deposits, Tubulointerstitial nephritis, Granulomatosis, Cough, ...	ORPHA:93126
Iga Nephropathy, Susceptibility To, 2	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Nephritis, IgA deposition i...	OMIM:613944
Acquired Partial Lipodystrophy	Glomerulopathy, Proteinuria, Lipoatrophy, Myopathy, Lymphocytosis, Microscopic hematuria, Hepatic...	ORPHA:79087
Brucellosis	Liver abscess, Bronchitis, Elevated circulating C-reactive protein concentration, Knee osteoarthr...	ORPHA:1304
Diabetes Mellitus, Permanent Neonatal, 3	Type I diabetes mellitus, Hyperglycemia, Ketonuria, Glycosuria	OMIM:618857
Immunodeficiency With Hyper-Igm, Type 4	Osteomyelitis, Recurrent upper respiratory tract infections, Bronchiectasis, Recurrent bacterial ...	OMIM:608184
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Recurrent respiratory infections, Glomerulonephritis, Decreased proportion of margi...	OMIM:619375
Chylomicron Retention Disease	Decreased LDL cholesterol concentration, Hypoalbuminemia, Steatorrhea, Hypotriglyceridemia, Hypoc...	OMIM:246700
Immunodeficiency 23	Hemolytic anemia, Lymphopenia, Membranoproliferative glomerulonephritis, Recurrent respiratory in...	OMIM:615816
Scedosporiosis	Unusual skin infection, Pericarditis, Sinusitis, Bronchial breath sound, Pneumonia, Arthralgia/ar...	ORPHA:449280
Primary Membranoproliferative Glomerulonephritis	Renal insufficiency, Proteinuria, Myocardial infarction, Chronic kidney disease, Stage 5 chronic ...	ORPHA:54370
Retinitis Pigmentosa 89	Bicuspid aortic valve, Micronodular cirrhosis, Hepatosplenomegaly, Hepatic fibrosis, Intrahepatic...	OMIM:618955
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Recurrent Aspergillus infections, Recurrent bacterial skin infections, Hepatomegaly, Liver absces...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Recurrent Aspergillus infections, Recurrent bacterial skin infections, Hepatomegaly, Liver absces...	OMIM:233710
Diffuse Alveolar Hemorrhage	Respiratory failure requiring assisted ventilation, Proteinuria, Dyspnea, Increased DLCO, Leukocy...	ORPHA:90060
Galloway-Mowat Syndrome 7	Diffuse mesangial sclerosis, Proteinuria, Eczema, Minimal change glomerulonephritis, Dilated card...	OMIM:618348
Lipoprotein Glomerulopathy	Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity	OMIM:611771
Adams-Oliver Syndrome 6	Tricuspid regurgitation, Ventricular septal defect, Portal hypertension, Splenomegaly, Hepatic fi...	OMIM:616589
Immunodeficiency, Common Variable, 1	Hepatomegaly, Pneumonia, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Recurrent bacterial i...	OMIM:607594
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Elevated hepatic transaminase, Hepatomegaly, Eczema, Congestive heart failure, Splenomegaly, Dila...	OMIM:615895
Idiopathic Bronchiectasis	Myocardial infarction, Crackles, Productive cough, Dyspnea, Wheezing, Bronchiectasis, Abnormal re...	ORPHA:60033
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
Transaldolase Deficiency	Hepatomegaly, Ventricular septal defect, Splenomegaly, Asthma, Patent ductus arteriosus, Micronod...	OMIM:606003
Pneumocystosis	Respiratory failure requiring assisted ventilation, Multiple pulmonary cysts, Abnormal neutrophil...	ORPHA:723
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Skin rash, Recurrent viral infections, Recurrent mycobacterial infections, Recurrent opportunisti...	ORPHA:275
Polymyositis	Elevated circulating creatine kinase concentration, Myocardial infarction, Cough, Hepatomegaly, D...	ORPHA:732
Griscelli Syndrome, Type 2	Recurrent bacterial infections, Hepatosplenomegaly	OMIM:607624
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Chronic gastritis, Recurrent herpes, Liver abscess, Cholangitis, Sepsis, Pulmonary tuberculosis, ...	ORPHA:183675
Mpi-Cdg	Gastrointestinal hemorrhage, Abnormal circulating enzyme concentration or activity, Hepatomegaly,...	ORPHA:79319
Glomerulopathy With Fibronectin Deposits 1	Glomerulopathy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Lobular glomeru...	OMIM:137950
Galloway-Mowat Syndrome 2, X-Linked	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Nephrotic syndrom...	OMIM:301006
Eosinophilic Granulomatosis With Polyangiitis	Myositis, Sinusitis, Myocardial infarction, Tubulointerstitial nephritis, Cough, Acrocyanosis, Gl...	ORPHA:183
Charcot-Marie-Tooth Disease, Dominant Intermediate E	Distal lower limb amyotrophy, Proteinuria, Elevated circulating creatine kinase concentration, Cl...	OMIM:614455
Glomerulopathy With Fibronectin Deposits 2	Renal insufficiency, Proteinuria, Glomerular deposits, Glomerulomegaly, Stage 5 chronic kidney di...	OMIM:601894
Peripartum Cardiomyopathy	Crackles, Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnorm...	ORPHA:563
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Hepatomegaly, Inguinal hernia, Proteinuria, Glomerulonephritis, Supernumerary nipple, Elevated ci...	OMIM:614376
Abdominal Obesity-Metabolic Syndrome 3	Hypertriglyceridemia, Increased LDL cholesterol concentration, Type II diabetes mellitus, Hyperch...	OMIM:615812
Cholestasis, Progressive Familial Intrahepatic, 12	Hepatomegaly, Proteinuria, Elevated circulating aspartate aminotransferase concentration, Conjuga...	OMIM:620010
Tuberculosis	Abnormal lung morphology, Weight loss, Cough	ORPHA:3389
T-Cell Immunodeficiency With Thymic Aplasia	Recurrent infection of the gastrointestinal tract, Recurrent urinary tract infections, Sinusitis,...	ORPHA:83471
Immunodeficiency 27B	Recurrent mycobacterial infections, Osteomyelitis, Recurrent mycobacterium avium complex infectio...	OMIM:615978
Wild Type Attr Amyloidosis	Hepatomegaly, Renal insufficiency, Abnormal EKG, Proteinuria, Myocardial infarction, Congestive h...	ORPHA:330001
Leukocyte Adhesion Deficiency, Type Iii	Abnormal bleeding, Hepatomegaly, Recurrent skin infections, Epistaxis, Splenomegaly, Sepsis, Hepa...	OMIM:612840
Immunodeficiency 27A	Increased inflammatory response, Abnormal bronchus physiology, Pneumonia, Splenomegaly, Leukocyto...	OMIM:209950
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Recurrent Aspergillus infections, Recurrent bacterial skin infections, Hepatomegaly, Liver absces...	OMIM:233690
Specific Granule Deficiency 1	Recurrent bacterial infections, Low neutrophil alkaline phosphatase	OMIM:245480
Al Amyloidosis	Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Nonproductive cough, Abnormal...	ORPHA:85443
C1Q Deficiency 1	Membranoproliferative glomerulonephritis	OMIM:613652
Splenoportal Vascular Anomalies	Cirrhosis, Splenomegaly, Hepatic fibrosis, Anomalous splenoportal venous system	OMIM:271500
Systemic Lupus Erythematosus 16	Lupus nephritis	OMIM:614420
Nephrotic Syndrome, Type 2	Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ...	OMIM:600995
Cocaine Intoxication	Respiratory distress, Prolonged QRS complex, Elevated circulating creatine kinase concentration, ...	ORPHA:90068
Autoimmune Lymphoproliferative Syndrome	Uveitis, Increased circulating IgG level, Colitis, Lymphocytosis, Increased B cell count, Decreas...	ORPHA:3261
Agammaglobulinemia 3, Autosomal Recessive	Recurrent otitis media, Recurrent bacterial infections, Recurrent lower respiratory tract infecti...	OMIM:613501
Diabetes And Deafness, Maternally Inherited	Hyperglycemia, Type II diabetes mellitus	OMIM:520000
Thrombotic Thrombocytopenic Purpura	Reticulocytosis, Renal insufficiency, Proteinuria, Myocardial infarction, Dyspnea, Abnormal lacta...	ORPHA:54057
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He...	OMIM:612924
Hjv Or Hamp-Related Hemochromatosis	Elevated hepatic transaminase, Congenital hepatic fibrosis, Dilated cardiomyopathy, Abnormality o...	ORPHA:79230
Hereditary Renal Hypouricemia	Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Mild proteinuri...	ORPHA:94088
Cholesterol-Ester Transfer Protein Deficiency	Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi...	ORPHA:79506
Complement Component 4A Deficiency	Vasculitis, Glomerulonephritis	OMIM:614380
Mucopolysaccharidosis-Plus Syndrome	Respiratory distress, Synophrys, Flexion contracture, Low anterior hairline, Leukopenia, Coarse h...	OMIM:617303
Neonatal Hemochromatosis	Congenital hepatic fibrosis, Prolonged neonatal jaundice	ORPHA:446
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Proteinuria, Conjugated hyperb...	OMIM:613404
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He...	OMIM:612926
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Truncus arteriosus, Malformation of the hepatic ductal plate, Asplenia, Situs inver...	OMIM:615415
Immunodeficiency With Hyper-Igm, Type 2	Recurrent respiratory infections, Recurrent upper and lower respiratory tract infections, Recurre...	OMIM:605258
Pulmonary Arteriovenous Malformation	Abnormal bleeding, Brain abscess, Liver abscess, Transient ischemic attack, Epistaxis, Myocardial...	ORPHA:2038
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St...	OMIM:612925
Idiopathic Chronic Eosinophilic Pneumonia	Crackles, Elevated circulating C-reactive protein concentration, Dyspnea, Nonproductive cough, Wh...	ORPHA:2902
Bile Acid Malabsorption, Primary, 2	Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino...	OMIM:619481
Atrial Septal Defect, Ostium Secundum Type	Bundle branch block, First degree atrioventricular block, Abnormal left ventricular function, Rig...	ORPHA:99103
Reticular Dysgenesis	Recurrent respiratory infections, Skin rash, Abnormality of neutrophils, Weight loss, Decreased c...	ORPHA:33355
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hyponatremia, Diabetes mellitus, Proteinuria, Polyuria, Renal salt wasting, Hypomagnesemia, Chron...	OMIM:613845
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Alopecia, Sinusitis, Osteomyelitis, Skin rash, Thrombocyto...	ORPHA:47
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Chronic oral candidiasis, Recurrent herpes, Recurrent bacterial skin infections, Hepatomegaly, Pn...	ORPHA:276
Amyloidosis, Familial Visceral	Hepatomegaly, Skin rash, Proteinuria, Splenomegaly, Cholestasis, Hematuria, Nephrotic syndrome, H...	OMIM:105200
Felty Syndrome	Sinusitis, Neutropenia, Chronic otitis media, Abnormal lymphocyte morphology, Hepatomegaly, Recur...	ORPHA:47612
Whim Syndrome 1	Recurrent bacterial infections, Recurrent upper respiratory tract infections, Bronchiectasis	OMIM:193670
Agammaglobulinemia 4, Autosomal Recessive	Recurrent otitis media, Recurrent bacterial infections, Recurrent pneumonia, Chronic sinusitis	OMIM:613502
Lecithin:Cholesterol Acyltransferase Deficiency	Hemolytic anemia, Renal insufficiency, Hypertriglyceridemia, Proteinuria, Decreased HDL cholester...	OMIM:245900
Lymphoid Interstitial Pneumonia	Crackles, Abnormality of connective tissue, Cough, Decreased DLCO, Hepatomegaly, Multiple pulmona...	ORPHA:79128
Igg4-Related Retroperitoneal Fibrosis	Normocytic anemia, Elevated circulating C-reactive protein concentration, Large vessel vasculitis...	ORPHA:49041
Immunodeficiency With Hyper-Igm, Type 5	Recurrent bacterial infections, Recurrent upper and lower respiratory tract infections, Epididymitis	OMIM:608106
Granulomatous disease with defect in neutrophil chemotaxis	Recurrent staphylococcal infections	OMIM:233670
Primary Biliary Cholangitis	Orthostatic hypotension, Portal hypertension, Jaundice, Hepatitis, Biliary cirrhosis, Gastrointes...	ORPHA:186
Galactosemia I	Hepatomegaly, Hemolytic anemia, Elevated circulating aspartate aminotransferase concentration, El...	OMIM:230400
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Minimal change glomerulonephritis, Pulmonary embolism, Dyspnea, Hyperlipidemia, Chronic kidney di...	ORPHA:567546
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome	Acute hepatic failure, Hepatic fibrosis, Hepatosplenomegaly	ORPHA:466794
Caroli Syndrome	Liver abscess, Cholangitis, Sepsis, Abnormal intrahepatic bile duct morphology, Abnormal bleeding...	ORPHA:480520
Systemic Sclerosis	Elevated circulating creatine kinase concentration, Flexion contracture, Intestinal bleeding, Alo...	ORPHA:90291
Immunodeficiency 47	Elevated hepatic transaminase, Accessory spleen, Hepatomegaly, Tricuspid regurgitation, Elevated ...	OMIM:300972
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Respiratory tract infection, Nonproductive cough, Dyspnea, Chronic pulmonary obstruction, Wheezin...	ORPHA:79127
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Hepatomegal...	ORPHA:264580
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome	Chronic kidney disease, Glomerulonephritis	ORPHA:2172
Agammaglobulinemia 6, Autosomal Recessive	Recurrent pneumonia, Recurrent bacterial infections, Conjunctivitis, Recurrent otitis media, Chro...	OMIM:612692
Focal Segmental Glomerulosclerosis 6	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr...	OMIM:614131
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Recurrent urinary tract infections, Sinusitis, Enteroviral dermatomyositis syndrome, Pneumonia, R...	OMIM:307200
Atrial Septal Defect, Coronary Sinus Type	Bundle branch block, Right ventricular dilatation, Unroofed coronary sinus, Anomalous pulmonary v...	ORPHA:99104
Immunodeficiency By Defective Expression Of Mhc Class Ii	Recurrent respiratory infections, Recurrent herpes, Sinusitis, Skin rash, Recurrent viral infecti...	ORPHA:572
Drug Reaction With Eosinophilia And Systemic Symptoms	Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Skin rash, Eosinophili...	ORPHA:139402
Atypical Hemolytic Uremic Syndrome	Proteinuria, Abnormal lactate dehydrogenase level, Hematuria, Microangiopathic hemolytic anemia, ...	ORPHA:2134
Adult-Onset Still Disease	Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Skin rash, Myocarditis, Recurrent phar...	ORPHA:829
Plin1-Related Familial Partial Lipodystrophy	Hypertension, Hepatic fibrosis, Hepatic steatosis	ORPHA:280356
Caroli Disease	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c...	ORPHA:53035
Spastic Paraplegia-Nephritis-Deafness Syndrome	Nephropathy, Proteinuria, Hypertension	ORPHA:2820
Nephrotic Syndrome, Type 1	Diffuse mesangial sclerosis, Renal insufficiency, Neonatal respiratory distress, Congenital nephr...	OMIM:256300
Hyperinsulinemic Hypoglycemia, Familial, 8	Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypoglycemic seizures, Hypercholesterolemia, Incr...	OMIM:620211
Hyperprolinemia Type 1	Nephropathy, Hyperprolinemia, Proteinuria, Prolinuria	ORPHA:419
Hereditary Thrombophilia Due To Congenital Antithrombin Deficiency	Portal vein thrombosis, Pulmonary embolism	ORPHA:82
Legionnaires Disease	Abnormal lung morphology, Cough, Infectious encephalitis, Hyponatremia, Recurrent pharyngitis, He...	ORPHA:549
Antithrombin Iii Deficiency	Arterial occlusion, Pulmonary embolism	OMIM:613118
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Weight loss, Increase...	ORPHA:100024
Aicardi-Goutieres Syndrome 9	Hepatic fibrosis, Hypoalbuminemia, Micropenis, Hepatic steatosis, Hepatomegaly, Hemolytic anemia,...	OMIM:619487
Iga Nephropathy, Susceptibility To, 1	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Nephritis, IgA deposition i...	OMIM:161950
Myh9-Related Disease	Elevated hepatic transaminase, Spontaneous, recurrent epistaxis, Renal insufficiency, Proteinuria...	ORPHA:182050
Eosinophilic Fasciitis	Fasciitis, Myositis, Abnormal eosinophil morphology, Eosinophilia, Weight loss, Arthritis, Cellul...	ORPHA:3165
Complement Factor H Deficiency	Recurrent bacterial infections	OMIM:609814
Goodpasture Syndrome	Crackles, Nodular pattern on pulmonary HRCT, Tachypnea, Cough, Restrictive ventilatory defect, Gl...	OMIM:233450
Hypocomplementemic Urticarial Vasculitis	Episcleritis, Hepatomegaly, Abnormal heart valve morphology, Skin rash, Pericardial effusion, Dys...	ORPHA:36412
Familial Isolated Restrictive Cardiomyopathy	Orthopnea, Recurrent respiratory infections, Tricuspid regurgitation, Atrial fibrillation, Hepato...	ORPHA:75249
Hereditary Amyloidosis With Primary Renal Involvement	Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Nephropathy, Decreased glo...	ORPHA:85450
Allergic Bronchopulmonary Aspergillosis	Abnormal eosinophil morphology, Asthma, Bronchiectasis, Respiratory insufficiency, Weight loss, C...	ORPHA:1164
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities	Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:614199
Dent Disease 2	Increased circulating lactate dehydrogenase concentration, Elevated circulating aspartate aminotr...	OMIM:300555
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Hypospadias, Glomerulonephritis, Proteinuria, Synophrys, Fine hair, Nephrotic syndrome, Glomerula...	OMIM:619428
Pleural Mesothelioma	Respiratory distress, Hepatomegaly, Abnormal pleura morphology, Dyspnea, Abnormal lung morphology...	ORPHA:50251
Aapoaiv Amyloidosis	Abnormal lung morphology, Paraproteinemia, Left bundle branch block, Sinus bradycardia, Chronic p...	ORPHA:439232
Paternal Uniparental Disomy Of Chromosome 1	Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Abnormal dental enamel morp...	ORPHA:251004
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Internally nucleated skeletal muscle fibers, Elevated circulating creatine kinase concentration, ...	ORPHA:206549
Combined Immunodeficiency Due To Zap70 Deficiency	Recurrent bacterial skin infections, Skin rash, Pneumonia, Recurrent viral infections, Recurrent ...	ORPHA:911
Nephrotic Syndrome, Type 9	Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Hypoalbuminemia,...	OMIM:615573
Oculopharyngodistal Myopathy	Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Abnormality of orbicularis...	ORPHA:98897
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomega...	ORPHA:567983
Galactose Epimerase Deficiency	Hepatomegaly, Splenomegaly, Jaundice, Weight loss, Aminoaciduria	ORPHA:79238
Focal Segmental Glomerulosclerosis 2	Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl...	OMIM:603965
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Atrial septal defect, Pancreatic fibrosis, Portal hypertension, Malformation of the...	OMIM:208540
Selective Igm Deficiency	Recurrent herpes, Fasciitis, Recurrent staphylococcal infections, Severe varicella zoster infecti...	ORPHA:331235
Nail-Patella-Like Renal Disease	Glomerulopathy, Renal insufficiency, Proteinuria, Hypertension, Microscopic hematuria	ORPHA:2613
Alport Syndrome 3A, Autosomal Dominant	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, S...	OMIM:104200
Primary Sclerosing Cholangitis	Acute hepatic failure, Spider hemangioma, Uveitis, Hepatic fibrosis, Neoplasm of the gallbladder,...	ORPHA:171
Galloway-Mowat Syndrome 8	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndrome, Focal segmental glome...	OMIM:618349
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Elevated hepatic transaminase, Cholestasis, Recurrent infections, Hepatosplenomegaly, Hepatic fib...	ORPHA:541423
Hypobetalipoproteinemia, Familial, 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr...	OMIM:615558
Fibronectin Glomerulopathy	Glomerulopathy, Renal insufficiency, Proteinuria, Cerebral hemorrhage, Nephrotic syndrome, Hypert...	ORPHA:84090
Iga Nephropathy, Susceptibility To, 3	Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney disease, Hematuria, Hypertension,...	OMIM:616818
Complement Factor I Deficiency	Renal insufficiency, Recurrent urinary tract infections, Recurrent skin infections, Glomeruloneph...	OMIM:610984
Fanconi-Bickel Syndrome	Hyperphosphaturia, Hypertriglyceridemia, Diabetes mellitus, Impaired glucose tolerance, Hypercalc...	ORPHA:2088
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated urinary 3-hydroxybutyric acid, Dicarboxylic...	ORPHA:42
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form	Muscle fiber atrophy, Renal insufficiency, Elevated circulating creatine kinase concentration, El...	ORPHA:228302
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hepatomegaly, Pneumonia, Recurrent viral infections, Recurrent mycobacterial infections, Splenome...	ORPHA:169090
Cryptogenic Organizing Pneumonia	Respiratory distress, Bronchial breath sound, Cyanosis, Neutrophilia, Crackles, Elevated circulat...	ORPHA:1302
Granulomatosis With Polyangiitis	Sinusitis, Elevated circulating C-reactive protein concentration, Granulomatosis, Otitis media, C...	ORPHA:900
Mitochondrial Trifunctional Protein Deficiency 1	Elevated hepatic transaminase, Small for gestational age, Elevated circulating aspartate aminotra...	OMIM:609015
Glycogen Storage Disease Vii	Hemolytic anemia, Reticulocytosis, Increased circulating lactate dehydrogenase concentration, Ele...	OMIM:232800
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Necrotizing enterocolitis, Sudden cardiac death, Cardiomegaly, Tachypnea, Hepatocel...	OMIM:201475
Orthostatic Hypotension 1	Hypomagnesemia, Nocturia, Neonatal hypoglycemia, Increased blood urea nitrogen	OMIM:223360
Leishmaniasis	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Spleno...	ORPHA:507
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol...	OMIM:616217
Maternally-Inherited Diabetes And Deafness	Glomerulopathy, Renal insufficiency, Proteinuria, Congestive heart failure, Hypertension, Arrhyth...	ORPHA:225
Fixed Subaortic Stenosis	Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri...	ORPHA:3092
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis	Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Hypocholesterol...	OMIM:616834
Cole Disease	Hyperglycemia, Abnormal blood phosphate concentration	OMIM:615522
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hypocholesterolemia	OMIM:610539
Cerebroretinal Microangiopathy With Calcifications And Cysts 2	Gastrointestinal hemorrhage, Hepatic fibrosis, Portal hypertension, Retinal telangiectasia	OMIM:617341
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Hyperglycemia, Ketonuria, Hypoglycemia, Hyperammonemia	OMIM:615453
Genetic Recurrent Myoglobinuria	Elevated hepatic transaminase, Dark urine, Myositis, Renal insufficiency, Proximal muscle weaknes...	ORPHA:99845
Rheumatic Fever	Pericarditis, Sinusitis, Abnormal heart valve morphology, Epistaxis, Myocarditis, Recurrent phary...	ORPHA:3099
Porphyria Cutanea Tarda	Elevated hepatic transaminase, Recurrent bacterial skin infections, Abnormal circulating enzyme c...	ORPHA:101330
Q Fever	Respiratory distress, Abnormal left ventricular function, Abnormality of the liver, Cholecystitis...	ORPHA:781
Interstitial Lung And Liver Disease	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Dyspnea, Elevated ci...	OMIM:615486
Systemic Capillary Leak Syndrome	Pericarditis, Renal insufficiency, Pulmonary edema, Abnormal renal tubule morphology, Myocarditis...	ORPHA:188
Focal Segmental Glomerulosclerosis 5	Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Hypertension, Mi...	OMIM:613237
Chronic Beryllium Disease	Lymphocytic interstitial pneumonia, Dyspnea, Hypersensitivity pneumonitis, Abnormality on pulmona...	ORPHA:133
Sudden Cardiac Failure, Infantile	Sudden cardiac death, Myocarditis, Congestive heart failure, Myocardial fibrosis, Bradycardia, Hy...	OMIM:617222
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Normocytic anemia, Gastrointestinal hemorrhage, Skin rash, Pneumonia, Proteinuria, Nodular regene...	ORPHA:247691
Thrombophilia Due To Thrombomodulin Defect	Pulmonary embolism	OMIM:614486
Scrub Typhus	Abnormal bleeding, Anterior uveitis, Skin rash, Dyspnea, Myocarditis, Splenomegaly, Restrictive v...	ORPHA:83317
Focal Segmental Glomerulosclerosis 3, Susceptibility To	Renal insufficiency, Proteinuria, Hematuria, Focal segmental glomerulosclerosis, Hypertension	OMIM:607832
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Episodic tachypnea, Elevated circulating creatine kinase concentration, Tac...	ORPHA:26793
Primary Sjögren Syndrome	Normocytic anemia, Myositis, Chronic active hepatitis, Bronchitis, Nonproductive cough, Tubuloint...	ORPHA:289390
Fanconi-Bickel Syndrome	Elevated gamma-glutamyltransferase level, Hepatomegaly, Ketonuria, Hypouricemia, Elevated circula...	OMIM:227810
Polyarteritis Nodosa	Pericarditis, Abnormality of the kidney, Elevated circulating C-reactive protein concentration, R...	ORPHA:767
American Trypanosomiasis	Hepatomegaly, Skin rash, Dyspnea, Myocarditis, Congestive heart failure, Splenomegaly, Cardiomyop...	ORPHA:3386
Eosinophilic Gastroenteritis	Allergic rhinitis, Eosinophilia, Elevated circulating C-reactive protein concentration, Asthma, L...	ORPHA:2070
Granulomatous Disease, Chronic, X-Linked	Recurrent Aspergillus infections, Recurrent bacterial skin infections, Hepatomegaly, Liver absces...	OMIM:306400
Insulin-Resistance Syndrome Type B	Proteinuria, Abnormal circulating fatty-acid concentration, Nephritis, Insulin resistance, Fastin...	ORPHA:2298
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Ventricular septal defect, Splenomegaly, Cholestasis, Hepatic fibrosis, Hepatic fai...	OMIM:615630
Immunodeficiency 33	Recurrent bacterial infections, Pneumocystis jirovecii pneumonia, Disseminated nontuberculous myc...	OMIM:300636
Pediatric Systemic Lupus Erythematosus	Myositis, Leukopenia, Nephritis, Alopecia, Raynaud phenomenon, Nephrotic syndrome, Microangiopath...	ORPHA:93552
Nephrotic Syndrome, Type 17	Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Microscopic hema...	OMIM:618176
Anti-Glomerular Basement Membrane Disease	Glomerulopathy, Renal insufficiency, Proteinuria, Vasculitis, Respiratory insufficiency, Hematuri...	ORPHA:375
Thrombophilia, X-Linked, Due To Factor Viii Defect	Pulmonary embolism	OMIM:301071
Mantle Cell Lymphoma	Splenomegaly, Weight loss	ORPHA:52416
Long Qt Syndrome 13	Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri...	OMIM:613485
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Elevated hepatic transaminase, Accessory spleen, Acute respiratory distress syndrome, Portal hype...	OMIM:620005
Generalized Pseudohypoaldosteronism Type 1	Hyponatremia, Osteomyelitis, Failure to thrive in infancy, Pustule, Glucocortocoid-insensitive pr...	ORPHA:171876
Rhabdoid Tumor	Renal neoplasm, Hypercalcemia, Thrombocytopenia, Respiratory insufficiency, Weight loss, Hematuri...	ORPHA:69077
Congenital Enterovirus Infection	Respiratory distress, Abnormal bleeding, Skin rash, Pericardial effusion, Myocarditis, Sepsis, He...	ORPHA:292
Senior-Loken Syndrome	Hypertension, Congenital hepatic fibrosis	ORPHA:3156
Infantile Liver Failure Syndrome 3	Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Chole...	OMIM:618641
Primary Ciliary Dyskinesia	Atrial situs ambiguous, Asplenia, Chronic otitis media, Neonatal respiratory distress, Abnormal a...	ORPHA:244
Focal Segmental Glomerulosclerosis 7	Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis...	OMIM:616002
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, H...	OMIM:607626
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Skeletal muscle atrophy, Neonatal respiratory distress, Elevated circulating aspartate aminotrans...	OMIM:245400
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Respiratory distress, Hepatomegaly, Hyperphosphaturia, Proteinuria, Respiratory insufficiency due...	OMIM:220110
Dopamine Beta-Hydroxylase Deficiency	Hypoglycemia, Insulin resistance, Elevated urinary dopamine level, Hyperinsulinemia, Elevated cir...	ORPHA:230
Joubert Syndrome 9	Hepatic fibrosis, Apnea, Episodic tachypnea	OMIM:612285
Complete Atrioventricular Septal Defect	Crackles, Cardiomegaly, Tachypnea, Atrioventricular block, Primum atrial septal defect, Displacem...	ORPHA:1329
Galloway-Mowat Syndrome 6	Proteinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Hypoalbuminemia, Decreased b...	OMIM:618347
Nephrotic Syndrome, Type 18	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch...	OMIM:618177
Nephrotic Syndrome, Type 19	Focal segmental glomerulosclerosis, Stage 3 chronic kidney disease, Proteinuria, Steroid-resistan...	OMIM:618178
Nephrotic Syndrome, Type 20	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch...	OMIM:301028
Hypokalemic Periodic Paralysis	Postprandial hyperglycemia, Episodic hypokalemia, Mildly elevated creatine kinase	ORPHA:681
Aggressive Systemic Mastocytosis	Gastrointestinal hemorrhage, Pancytopenia, Maculopapular exanthema, Portal hypertension, Hyperspl...	ORPHA:98850
Glycogen Storage Disease Due To Aldolase A Deficiency	Hemolytic anemia, Decreased muscle mass, Exercise-induced rhabdomyolysis, Reduced circulating ald...	ORPHA:57
Focal Segmental Glomerulosclerosis 8	Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:616032
Amoebiasis Due To Entamoeba Histolytica	Elevated hepatic transaminase, Liver abscess, Lung abscess, Dyspnea, Leukocytosis, Congestive hea...	ORPHA:67
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased urinary cortisol level, Hyperglycemia, Increased circulating cortisol level	OMIM:615954
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome	Periportal fibrosis	OMIM:213010
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Recurrent sinopulmonary infections, Skin rash, Recurrent pneumonia, Chronic mucocutaneous candidi...	OMIM:147060
Neuroleptic Malignant Syndrome	Urinary incontinence, Elevated circulating creatine kinase concentration, Pulmonary embolism, Hyp...	ORPHA:94093
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Renal insufficiency, Hypercalciuria, Hypophosphatemia, Nephrocalcinosis, Focal segmental glomerul...	OMIM:308990
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Abnormal renal glomerulus morphology, Reduced subcutaneous adipose tissue, Renal insufficiency, M...	OMIM:137940
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Hepatomegal...	ORPHA:79240
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hepatomegaly, Hyperphosphaturia, Proteinuria, Respiratory insufficiency due to muscle weakness, S...	ORPHA:436271
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Atrial septal defect, Patent foramen...	OMIM:301068
Thrombophilia Due To Protein C Deficiency, Autosomal Dominant	Pulmonary embolism	OMIM:176860
Complement Component 5 Deficiency	Recurrent Neisserial infections, Generalized seborrheic dermatitis, Recurrent meningococcal disease	OMIM:609536
Drug-Induced Lupus Erythematosus	Hematuria, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive pr...	ORPHA:231111
Neutropenia, Severe Congenital, X-Linked	Recurrent bacterial infections, Eczema	OMIM:300299
Coenzyme Q10 Deficiency, Primary, 3	Nephrotic syndrome, Proteinuria, Hypoalbuminemia, Decreased level of coenzyme Q10 in skeletal muscle	OMIM:614652
Congenital Gerbode Defect	Elevated right atrial pressure, Tricuspid regurgitation, Left-to-right shunt, Ventricular septal ...	ORPHA:99095
Dominant Beta-Thalassemia	Chronic infection, Dyspnea, High-output congestive heart failure, Dilated cardiomyopathy, Jaundic...	ORPHA:231226
Carnitine Palmitoyltransferase Ii Deficiency	Elevated circulating creatine kinase concentration, Red-brown urine, Tubulointerstitial nephritis...	ORPHA:157
Antisynthetase Syndrome	Aortic regurgitation, Recurrent respiratory infections, Myositis, Telangiectasia of the skin, Ski...	ORPHA:81
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Elevated hepatic transaminase, Brain abscess, Liver abscess, Neutrophilia, Abnormality of the kid...	ORPHA:54251
Bronchial Neuroendocrine Tumor	Hepatomegaly, Tricuspid regurgitation, Pneumonia, Right ventricular failure, Dyspnea, Nonproducti...	ORPHA:97287
Pediatric Hepatocellular Carcinoma	Portal vein thrombosis, Hepatomegaly, Hepatic fibrosis, Hepatic necrosis	ORPHA:33402
Immunodeficiency With Hyper-Igm, Type 1	Hepatomegaly, Splenomegaly, Sepsis, Hepatitis, Chronic hepatitis, Hypoxemia, Recurrent bacterial ...	OMIM:308230
Schimke Immunoosseous Dysplasia	Abnormal T cell morphology, Coarse hair, Neutropenia, Decreased circulating antibody level, Nephr...	OMIM:242900
Pseudo-Torch Syndrome 3	Apnea, Proteinuria, Cerebral hemorrhage, Lymphadenitis, Leukocytosis, Increased circulating ferri...	OMIM:618886
Hematuria, Benign Familial, 2	Microscopic hematuria, Proteinuria, Abnormal glomerular basement membrane morphology	OMIM:620320
Fanconi Renotubular Syndrome 5	Proteinuria, Stage 5 chronic kidney disease, Hypophosphatemia, Hypophosphatemic rickets, Aminoaci...	OMIM:618913
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, E...	ORPHA:731
Greig Cephalopolysyndactyly Syndrome	Hyperglycemia, Hypospadias	OMIM:175700
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	ORPHA:228305
Syndromic Diarrhea	Aortic regurgitation, Hepatomegaly, Atrial septal defect, Bicuspid aortic valve, Ventricular sept...	ORPHA:84064
Odontomatosis-Aortae Esophagus Stenosis Syndrome	Myocarditis, Hepatic failure	ORPHA:2724
Isolated Biliary Atresia	Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Splenomegaly, Jaundice, Cholest...	ORPHA:30391
Glycogen Storage Disease Ixa1	Hypercholesterolemia, Hypertriglyceridemia, Hypoglycemia, Hyperuricemia	OMIM:306000
Hypercholesterolemia, Familial, 4	Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration	OMIM:603813
Pulmonary Alveolar Microlithiasis	Calcium nephrolithiasis, Bronchitis, Nonproductive cough, Tachypnea, Increased circulating surfac...	ORPHA:60025
Reni Syndrome	Diffuse mesangial sclerosis, Hypertriglyceridemia, Proteinuria, Mesangial hypercellularity, Podoc...	OMIM:617575
Insulin Autoimmune Syndrome	Arthralgia/arthritis, Increased circulating antibody level, Weight loss	ORPHA:411593
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Recurrent respiratory infections, Abnormal neutrophil count, Splenomegaly, Leukocyt...	ORPHA:3226
Oligomeganephronia	Renal insufficiency, Pulmonary venous occlusion, Proteinuria, Small for gestational age, Unilater...	ORPHA:2260
Renal Hypoplasia, Bilateral	Hyponatremia, Neonatal respiratory distress, Failure to thrive, Proteinuria, Small for gestationa...	ORPHA:97362
Takayasu Arteritis	Increased inflammatory response, Hypertensive crisis, Myocardial infarction, Vasculitis, Weight l...	ORPHA:3287
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Macrocytic anemia, Pancytopenia, Proteinuria, Angular cheilitis, Tachycardia, Me...	ORPHA:35858
Coach Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Hypertension, Hep...	OMIM:216360
Hyperlipidemia, Familial Combined, 3	Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c...	OMIM:144250
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Hyperu...	OMIM:613092
Acute Myelomonocytic Leukemia	Eosinophilia, Dyspnea, Leukocytosis, Thrombocytopenia, Weight loss, Anemia	ORPHA:517
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Abnormal heart valve morphology, Pulmonary embolism, Congestive heart failure, Osteoarthritis, Hy...	ORPHA:1345
Mixed Connective Tissue Disease	Gastrointestinal hemorrhage, Prolonged bleeding time, Pericarditis, Hepatomegaly, Myositis, Skin ...	ORPHA:809
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Small for gestational age, Proteinuria, Macronodular cirrhosis, Abnormal T cell morphology, Nephr...	OMIM:215250
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Respiratory distress, Cachexia, Weight loss, Aminoaciduria, Proximal tubulopathy, Failure to thrive	OMIM:612075
Wilson Disease	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Throm...	ORPHA:905
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Elevated hepatic transaminase, Skeletal muscle atrophy, Elevated circulating creatine kinase conc...	OMIM:620138
Free Sialic Acid Storage Disease	Hepatomegaly, Recurrent respiratory infections, Proteinuria, Failure to thrive in infancy, Spleno...	ORPHA:834
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Elevated hepatic transaminase, Predominantly dermal neutrophilic infiltrate, Exercise-induced rha...	ORPHA:284426
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Respiratory distress, Flexion contracture, Leukopenia, Conjunctivitis, Hypoalbuminemia, Hernia, D...	ORPHA:505248
Ddost-Cdg	Elevated hepatic transaminase, Lipodystrophy, Nephrotic range proteinuria, Failure to thrive, Hep...	ORPHA:300536
Lymphatic Filariasis	Proteinuria, Glomerulonephritis, Abnormality of the kidney, Orchitis, Lymphadenitis, Wheezing, Kn...	ORPHA:2035
Congenital Disorder Of Glycosylation, Type Ib	Abnormal bleeding, Hepatomegaly, Hepatic fibrosis, Cirrhosis, Hepatic failure	OMIM:602579
Multicentric Reticulohistiocytosis	Arthritis, Cachexia, Histiocytosis	ORPHA:139436
Thrombophilia Due To Thrombin Defect	Pulmonary embolism	OMIM:188050
Autosomal Dominant Severe Congenital Neutropenia	Recurrent sinopulmonary infections, Recurrent skin infections, Pneumonia, Recurrent ear infection...	ORPHA:486
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Elevated circulating aspartate aminotransferase concentration, Intrahepatic cholestasis, Jaundice...	OMIM:617093
Uremic Pruritus	Renal hypophosphatemia, Hypercalcemia, Chronic kidney disease, Hypermagnesemia, Stage 5 chronic k...	ORPHA:94059
Carnitine-Acylcarnitine Translocase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Sudden episodic apnea, Cyanos...	ORPHA:159
Papa Syndrome	Increased inflammatory response, Myositis, Acne, Proteinuria, Pustule, Arthritis, Increased circu...	ORPHA:69126
Laryngeal Neuroendocrine Tumor	Elevated carcinoembryonic antigen level, Weight loss, Exertional dyspnea	ORPHA:100083
Renal Hypoplasia	Renal insufficiency, Urethral valve, Proteinuria, Small for gestational age, Unilateral renal age...	ORPHA:93101
Donohue Syndrome	Long penis, Hyperinsulinemia, Fasting hypoglycemia, Postprandial hyperglycemia, Hyperglycemia	OMIM:246200
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies	Proteinuria, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Reduce...	OMIM:611555
Yao Syndrome	Inflammatory abnormality of the skin, Pericarditis, Skin rash, Asthma, Nephrolithiasis, Weight lo...	OMIM:617321
Coenzyme Q10 Deficiency, Primary, 1	Pancytopenia, Proteinuria, Recurrent myoglobinuria, Elevated circulating creatine kinase concentr...	OMIM:607426
Coronary Arterial Fistula	Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Tachypnea, Abnormal left ventricula...	ORPHA:2041
Farber Disease	Respiratory distress, Elevated hepatic transaminase, Abnormal circulating enzyme concentration or...	ORPHA:333
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Elevated hepatic transaminase, Hepatomegaly, Skin rash, Recurrent viral infections, Lymphadenitis...	ORPHA:331206
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Nephrocalcinosis, Inflammation of the large intestine, Periodontitis, Hepatic steatosis, Tubuloin...	ORPHA:79259
Ornithine Transcarbamylase Deficiency	Aminoaciduria, Hypoglycemia, Hyperammonemia	ORPHA:664
Alport Syndrome	Mesangial hypercellularity, Cough, Nephritis, Tubulointerstitial fibrosis, Glomerular C3 depositi...	ORPHA:63
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Eczema, Invasive fungal infection, Recurrent mycobacterial infections, Severe viral infection, Ch...	ORPHA:98813
Alveolar Echinococcosis	Liver abscess, Cholangitis, Renal cyst, Cough, Portal hypertension, Abnormal mesentery morphology...	ORPHA:284
Squalene Synthase Deficiency	Hypospadias, Increased circulating farnesol concentration, Decreased LDL cholesterol concentratio...	OMIM:618156
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Elevated circulating creatinine concentration,...	OMIM:235400
Beta-Thalassemia Major	Hepatomegaly, Chronic infection, Dyspnea, High-output congestive heart failure, Dilated cardiomyo...	ORPHA:231214
Congenital Muscular Dystrophy Due To Lmna Mutation	Skeletal muscle atrophy, Cachexia, Congestive heart failure, Flexion contracture, Respiratory ins...	ORPHA:157973
Benign Recurrent Intrahepatic Cholestasis	Elevated hepatic transaminase, Jaundice, Weight loss, Acholic stools, Cholestatic liver disease, ...	ORPHA:65682
Adult Idiopathic Neutropenia	Helicobacter pylori infection, Recurrent infections, Recurrent bacterial infections, Recurrent fu...	ORPHA:2688
Bardet-Biedl Syndrome 9	Renal insufficiency, Hyperglycemia	OMIM:615986
Familial Mediterranean Fever, Autosomal Dominant	Renal insufficiency, Proteinuria, Peritonitis, Renal amyloidosis, Pleuritis, Erysipelas	OMIM:134610
Sporadic Pheochromocytoma/Secreting Paraganglioma	Proteinuria, Hypercalcemia, Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestiv...	ORPHA:276621
Glycogen Storage Disease Ib	Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Proteinuria, Splenomegaly, Hype...	OMIM:232220
Congenital Disorder Of Glycosylation, Type Ia	Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Decreased circulating IgG level, Prote...	OMIM:212065
Rat-Bite Fever	Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Myocarditis, Lymphadenitis, P...	ORPHA:31205
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Elevated circulating creatine kinase concentration, Heart block, Red-brown urine, Tubulointerstit...	ORPHA:228308
Non-Functioning Paraganglioma	Hypercalcemia, Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestive heart failu...	ORPHA:94080
Congenital Disorder Of Glycosylation, Type Iiw	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Membranoproliferative glomerulone...	OMIM:619525
Pfapa Syndrome	Hepatomegaly, Splenomegaly, Recurrent pharyngitis, Weight loss, Arthritis, Infectious encephalitis	ORPHA:42642
Combined Oxidative Phosphorylation Deficiency 54	Hyperglycemia	OMIM:619737
Neuraminidase Deficiency	Hepatomegaly, Inguinal hernia, Urinary excretion of sialylated oligosaccharides, Proteinuria, Ske...	OMIM:256550
Immunodeficiency 87 And Autoimmunity	Atrophic gastritis, Recurrent viral infections, Sepsis, Elevated gamma-glutamyltransferase level,...	OMIM:619573
Senior-Boichis Syndrome	Elevated hepatic transaminase, Portal hypertension, Malformation of the hepatic ductal plate, Con...	ORPHA:84081
Cryoglobulinemic Vasculitis	Gastrointestinal hemorrhage, Hepatomegaly, Viral hepatitis, Renal insufficiency, Proteinuria, Glo...	ORPHA:91138
Cednik Syndrome	Nephrotic syndrome, Proteinuria, Congestive heart failure	ORPHA:66631
Holocarboxylase Synthetase Deficiency	Respiratory distress, Alopecia, Eczema, Tachypnea, Hyperammonemia, Keratoconjunctivitis, Weight l...	ORPHA:79242
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Dark urine, Skeletal muscle atrophy, Tachycardia, Recurrent myoglobinuria, Elevated circulating c...	ORPHA:368
Mandibuloacral Dysplasia With Type B Lipodystrophy	Hyperlipidemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Stage 5 chronic kidney dis...	OMIM:608612
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Proteinuria, Large for gestational age,...	ORPHA:263455
Nephrotic Syndrome, Type 3	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru...	OMIM:610725
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Portal hypertension, Hematemesis, Pancreatic cysts, Splenomegaly, Hypertension, Per...	OMIM:263200
Acquired Generalized Lipodystrophy	Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Proteinuria, Calf muscle pseudohypertroph...	ORPHA:79086
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Neonatal sepsis, Recurrent respiratory infections, Recurrent urinary tract infections, Hepatomega...	OMIM:612541
Systemic Lupus Erythematosus	Hemolytic anemia, Alopecia, Proteinuria, Lupus nephritis, Pyuria, Discoid lupus rash, Raynaud phe...	ORPHA:536
Glycogen Storage Disease Xii	Normocytic anemia, Hepatomegaly, Increased circulating lactate dehydrogenase concentration, Eleva...	OMIM:611881
Focal Myositis	Myositis, Elevated circulating creatine kinase concentration, Weight loss	ORPHA:48918
Hellp Syndrome	Elevated hepatic transaminase, Hemolytic anemia, Decreased mean corpuscular hemoglobin concentrat...	ORPHA:244242
Nephronophthisis 13	Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Pancrea...	OMIM:614377
Ispd-Related Limb-Girdle Muscular Dystrophy R20	Skeletal muscle atrophy, Scapular winging, Reduced vital capacity, Calf muscle pseudohypertrophy,...	ORPHA:352479
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Erythroi...	OMIM:613673
Refractory Celiac Disease	Elevated hepatic transaminase, Normocytic anemia, Inflammatory abnormality of the skin, Macrocyti...	ORPHA:398063
Sickle Cell Disease	Hepatomegaly, Cardiomegaly, Splenomegaly, Jaundice, Splenic infarction, Hypoxemia, Hypertension, ...	OMIM:603903
Neutropenia, Severe Congenital, 3, Autosomal Recessive	Recurrent bacterial infections	OMIM:610738
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Hepatitis, Cholestasis, Recurr...	OMIM:610199
Adenine Phosphoribosyltransferase Deficiency	Abnormal circulating enzyme concentration or activity, Renal insufficiency, Recurrent urinary tra...	ORPHA:976
Immunodeficiency 67	Liver abscess, Recurrent streptococcal infections, Recurrent staphylococcal infections	OMIM:607676
Kimura Disease	Lymphadenopathy, Follicular hyperplasia	ORPHA:482
Actinic Prurigo	Cheilitis, Pyoderma, Glomerulonephritis	OMIM:174770
Immunodeficiency 12	Skin rash, Recurrent viral infections, Bronchiectasis, Cheilitis, Recurrent bacterial infections,...	OMIM:615468
Igg4-Related Aortitis	Increased inflammatory response, Elevated circulating C-reactive protein concentration, Increased...	ORPHA:449400
Wilson Disease	Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Osteoarthritis, Aminoac...	OMIM:277900
Primary Hepatic Neuroendocrine Carcinoma	Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Ele...	ORPHA:100085
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Acute hepatic failure, Elevated hepatic transaminase, Abnormal circulating acylcarnitine concentr...	ORPHA:71212
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Microno...	OMIM:251880
Bone Dysplasia, Lethal Holmgren Type	Hepatomegaly, Recurrent respiratory infections, Patent ductus arteriosus, Respiratory insufficien...	ORPHA:1842
Thrombotic Thrombocytopenic Purpura, Hereditary	Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, Increased ...	OMIM:274150
Beta-Ketothiolase Deficiency	Ketonuria, Hypoglycemia, Hyperammonemia, Hyperuricemia, Hyperglycemia	ORPHA:134
Senior-Loken Syndrome 9	Tubulointerstitial nephritis, Hepatic fibrosis, Cholestasis	OMIM:616629
3-Hydroxy-3-Methylglutaric Aciduria	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Ketonuria, Apnea, Cardiac arrest...	ORPHA:20
Dpm1-Cdg	Elevated hepatic transaminase, Hepatomegaly, Hepatosplenomegaly, Hepatic fibrosis, Hepatic steatosis	ORPHA:79322
Cernunnos-Xlf Deficiency	Recurrent bacterial infections, Recurrent viral infections	ORPHA:169079
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Elevated hepatic transaminase, Hepatomegaly, Hyperphosphaturia, Proteinuria, Hypouricemia, Large ...	OMIM:616026
Congenital Disorder Of Glycosylation, Type Iif	Aortic regurgitation, Recurrent bacterial infections, Subcutaneous hemorrhage, Pulmonary hemorrhage	OMIM:603585
Glycogen Storage Disease Ia	Elevated hepatic transaminase, Hepatomegaly, Decreased muscle mass, Proteinuria, Hyperlipidemia, ...	OMIM:232200
Multicentric Carpotarsal Osteolysis Syndrome	Renal insufficiency, Proteinuria, Congenital diaphragmatic hernia, Stage 5 chronic kidney disease...	OMIM:166300
Meckel Syndrome, Type 3	Hepatomegaly, Bile duct proliferation, Hepatic fibrosis, Malformation of the hepatic ductal plate	OMIM:607361
Immunodeficiency With Hyper-Igm, Type 3	Recurrent bacterial infections	OMIM:606843
Glycogen Storage Disease Ic	Hepatomegaly, Renal insufficiency, Proteinuria, Hepatoblastoma, Cyclic neutropenia, Chronic pancr...	OMIM:232240
Cystinosis	Renal insufficiency, Proteinuria, Portal hypertension, Renal tubular dysfunction, Myopathy, Amino...	ORPHA:213
Attrv30M Amyloidosis	Atrioventricular block, Weight loss, Cardiomyopathy, Nephropathy, Arrhythmia, Abnormal renal phys...	ORPHA:85447
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Recurrent respiratory infections, Polycystic liver disease, Pancreatic fibrosis, Pancreatic cysts...	OMIM:208500
Xfe Progeroid Syndrome	Elevated hepatic transaminase, Renal insufficiency, Proteinuria, Cachexia, Absence of subcutaneou...	OMIM:610965
Lcat Deficiency	Decreased circulating apolipoprotein A-I concentration, Hemolytic anemia, Renal insufficiency, Hy...	ORPHA:650
Purine Nucleoside Phosphorylase Deficiency	Cerebral vasculitis, Recurrent urinary tract infections, Sinusitis, Pneumonia, Recurrent viral in...	OMIM:613179
Total Anomalous Pulmonary Venous Return 1	Total anomalous pulmonary venous return, Pulmonary arterial hypertension, Dextrocardia, Recurrent...	OMIM:106700
Specific Granule Deficiency 2	Recurrent otitis media, Recurrent bacterial infections, Recurrent pneumonia, Sepsis	OMIM:617475
Nocardiosis	Respiratory distress, Liver abscess, Lymphadenitis, Nonproductive cough, Sepsis, Conjunctivitis, ...	ORPHA:31204
Whipple Disease	Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Myositis, Myocardial infarction, Myocard...	ORPHA:3452
Gaucher Disease Type 1	Hepatomegaly, Pancytopenia, Proteinuria, Hypersplenism, Splenomegaly, Osteoarthritis, Thrombocyto...	ORPHA:77259
Lysosomal Acid Lipase Deficiency	Bone-marrow foam cells, Renal salt wasting, Microvesicular hepatic steatosis, Vacuolated lymphocy...	ORPHA:275761
Immunodeficiency, Common Variable, 13	Recurrent bacterial infections	OMIM:616873
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P...	OMIM:310468
Sarcoidosis	Heart block, Increased T cell count, Abnormal lung morphology, Ventricular tachycardia, Uveitis, ...	ORPHA:797
Isolated Succinate-Coq Reductase Deficiency	Noncompaction cardiomyopathy, Skeletal muscle atrophy, Abnormal atrioventricular conduction, Knee...	ORPHA:3208
Pseudomyxoma Peritonei	Abnormal peritoneum morphology, Respiratory insufficiency, Weight loss, Inflammation of the large...	ORPHA:26790
46,Xy Sex Reversal 4	Ureteropelvic junction obstruction, Elevated circulating creatinine concentration, Hydronephrosis...	OMIM:154230
Osteootohepatoenteric Syndrome	Proteinuria, Microvesicular hepatic steatosis, Asthma, Grade II vesicoureteral reflux, Cholestasi...	OMIM:619377
Systemic-Onset Juvenile Idiopathic Arthritis	Anterior uveitis, Pericarditis, Hepatomegaly, Skin rash, Splenomegaly, Pleural effusion, Juvenile...	ORPHA:85414
X-Linked Severe Congenital Neutropenia	Recurrent bacterial infections	ORPHA:86788
Pulmonary Non-Tuberculous Mycobacterial Infection	Respiratory distress, Crackles, Dyspnea, Chronic pulmonary obstruction, Pneumothorax, Bronchiecta...	ORPHA:411703
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Methylmalonic acidemia, Hypomethioninemia, Renal insufficiency, Decreased methionine synthase act...	OMIM:277400
Combined Oxidative Phosphorylation Deficiency 37	Elevated hepatic transaminase, Hypothermia, Respiratory insufficiency, Respiratory failure, 3-Met...	OMIM:618329
Hypercalcemia, Infantile, 1	Failure to thrive, Polyuria, Hypercalcemia, Nephrolithiasis, Hypercalciuria, Weight loss, Nephroc...	OMIM:143880
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Proteinuria, Hypertension, Nephrotic syndrome, Nephropathy, Anemia	ORPHA:1192
Erythrokeratodermia Variabilis	Alopecia, Skin rash, Abnormal hair morphology, Weight loss, Generalized hirsutism	ORPHA:317
Galloway-Mowat Syndrome 5	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ...	OMIM:617731
Malignant Atrophic Papulosis	Gastrointestinal hemorrhage, Constrictive pericarditis, Pleural effusion	OMIM:602248
Lujo Hemorrhagic Fever	Respiratory distress, Shock, Elevated hepatic transaminase, Increased circulating lactate dehydro...	ORPHA:319213
Listeriosis	Respiratory distress, Liver abscess, Sepsis, Conjunctivitis, Cholecystitis, Meningitis, Infectiou...	ORPHA:533
Riddle Syndrome	Conjunctival telangiectasia, Bronchitis, Enuresis nocturna, Otitis media, Decreased circulating I...	ORPHA:420741
Acute Promyelocytic Leukemia	Pancytopenia, Epistaxis, Productive cough, Diffuse alveolar hemorrhage, Thrombocytopenia, Leukocy...	ORPHA:520
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Elevated circulating creatine kinase concentration, Abnormal left ventricula...	ORPHA:99827
Pyruvate Carboxylase Deficiency	Hypoglutaminemia, Increased serum pyruvate, Hyperglutamatemia, Hypoglycemia, Lacticaciduria, Hype...	ORPHA:3008
Stevens-Johnson Syndrome	Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Recurrent respiratory ...	ORPHA:36426
Peroxisome Biogenesis Disorder 3B	Elevated circulating phytanic acid concentration, Steatorrhea, Hypocholesterolemia	OMIM:266510
Juvenile Dermatomyositis	Bundle branch block, Myositis, Elevated circulating creatine kinase concentration, Elevated circu...	ORPHA:93672
Symptomatic Form Of Hfe-Related Hemochromatosis	Cholangiocarcinoma, Hepatomegaly, Decreased muscle mass, Portal hypertension, Splenomegaly, Incre...	ORPHA:465508
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Elevated circulating creatine kinase concentration, Exercise-induced myoglobinuria, Reduced force...	OMIM:607155
Leukocyte Adhesion Deficiency	Sinusitis, Severe periodontitis, Conjunctivitis, Otitis media, Vaginitis, Polycythemia, Perianal ...	ORPHA:2968
Leukocyte Adhesion Deficiency, Type I	Recurrent gram-negative bacterial infections, Osteomyelitis, Recurrent staphylococcal infections,...	OMIM:116920
Lipodystrophy, Familial Partial, Type 2	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin-resistant diabetes mellitu...	OMIM:151660
Potocki-Lupski Syndrome	Hypocholesterolemia	OMIM:610883
Omenn Syndrome	Hepatomegaly, Pneumonia, Recurrent viral infections, Splenomegaly, Recurrent bacterial infections...	OMIM:603554
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Elevated circulating C-reactive protein ...	ORPHA:324964
Obesity Due To Sim1 Deficiency	Postural hypotension with compensatory tachycardia, Obesity, Hypotension, Increased resting energ...	ORPHA:369873
Glycogen Storage Disease Ixd	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Glycogen accumulatio...	OMIM:300559
Hereditary Pheochromocytoma-Paraganglioma	Proteinuria, Hypercalcemia, Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestiv...	ORPHA:29072
Microsporidiosis	Myositis, Sinusitis, Cholangitis, Bronchitis, Lymphadenitis, Abnormality of the spleen, Abnormali...	ORPHA:2552
Autoimmune Pulmonary Alveolar Proteinosis	Abnormal circulating protein concentration, Cyanosis, Crazy paving pattern, Crackles, Dyspnea, In...	ORPHA:747
Distal 16P11.2 Microdeletion Syndrome	Proteinuria, Abnormality of the kidney, Renal agenesis, Chronic kidney disease, Low anterior hair...	ORPHA:261222
Undifferentiated Pleomorphic Sarcoma	Abnormal peritoneum morphology, Weight loss	ORPHA:2023
Factor V Excess With Spontaneous Thrombosis	Pulmonary embolism	OMIM:134400
Gitelman Syndrome	Respiratory distress, Urinary incontinence, Decreased urinary potassium, Tubulointerstitial nephr...	ORPHA:358
Biliary, Renal, Neurologic, And Skeletal Syndrome	Secundum atrial septal defect, Primum atrial septal defect, Inlet ventricular septal defect, Hepa...	OMIM:619534
Coenzyme Q10 Deficiency, Primary, 6	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Focal ...	OMIM:614650
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Recurrent respiratory infections, Psoriasiform dermatitis, Eczema, Recurrent viral infections, Se...	OMIM:606367
Mitochondrial Trifunctional Protein Deficiency 2	Increased circulating NT-proBNP concentration, Tricuspid regurgitation, Recurrent myoglobinuria, ...	OMIM:620300
Cirrhotic Cardiomyopathy	Abnormal bleeding, Prolonged QT interval, Elevated jugular venous pressure, Hepatomegaly, Left at...	ORPHA:57777
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Glomerular sclerosis, Elevated circulating creatinine concentration, Abnormal renal physiology, I...	OMIM:223900
Nail-Patella Syndrome	Renal insufficiency, Biceps aplasia, Proteinuria, Glomerulonephritis, Absence of pectoralis minor...	OMIM:161200
Laurence-Moon Syndrome	Congenital hepatic fibrosis	ORPHA:2377
Immunodeficiency 36 With Lymphoproliferation	Persistent CMV viremia, Splenomegaly, Recurrent upper respiratory tract infections, Bronchiectasi...	OMIM:616005
Juvenile Nephropathic Cystinosis	Aminoaciduria, Renal Fanconi syndrome, Hypocalcemia, Low-molecular-weight proteinuria, Hypocalcem...	ORPHA:411634
Acquired Aneurysmal Subarachnoid Hemorrhage	Hypercholesterolemia, Hyperglycemia	ORPHA:90065
Myoglobinuria, Acute Recurrent, Autosomal Recessive	Elevated circulating creatine kinase concentration, Acute rhabdomyolysis, Hyperkalemia, Increased...	OMIM:268200
Nephrotic Syndrome, Type 22	Hypoproteinemia, Podocyte foot process effacement, Stage 5 chronic kidney disease, Thickened glom...	OMIM:619155
Catastrophic Antiphospholipid Syndrome	Angina pectoris, Transient ischemic attack, Myocardial infarction, Pulmonary embolism, Arterial o...	ORPHA:464343
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Weight loss	ORPHA:2198
Adams-Oliver Syndrome	Gastrointestinal hemorrhage, Abnormal pulmonary valve morphology, Portal hypertension, Congenital...	ORPHA:974
Agammaglobulinemia 9, Autosomal Recessive	Recurrent bacterial infections, Eczematoid dermatitis, Seborrheic dermatitis	OMIM:619693
Timothy Syndrome	Prolonged QT interval, Pneumonia, Hypothermia, Bronchitis, Patent ductus arteriosus, Ventricular ...	OMIM:601005
Microscopic Polyangiitis	Gastrointestinal hemorrhage, Episcleritis, Pericarditis, Sinusitis, Increased inflammatory respon...	ORPHA:727
Granulomatosis With Polyangiitis	Episcleritis, Sinusitis, Diffuse alveolar hemorrhage, Keratitis, Localized pulmonary hemorrhage, ...	OMIM:608710
Paroxysmal Nocturnal Hemoglobinuria	Myocardial infarction, Pulmonary embolism, Hemoglobinuria, Leukopenia, Renal Fanconi syndrome, Er...	ORPHA:447
Alagille Syndrome 2	Renal insufficiency, Proteinuria, Renal hypoplasia, Cholestasis, Renal cyst, Hematuria, Renal tub...	OMIM:610205
Aceruloplasminemia	Abnormal circulating enzyme concentration or activity, Congestive heart failure, Abnormal pancrea...	ORPHA:48818
Budd-Chiari Syndrome	Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Gastrointestinal hemorrhage, ...	ORPHA:131
Chronic Hiccup	Abnormality of the diaphragm, Weight loss	ORPHA:396
Lymphedema-Distichiasis Syndrome	Glomerulopathy, Recurrent urinary tract infections, Recurrent skin infections, Proteinuria, Paten...	ORPHA:33001
Citrullinemia Type Ii	Elevated hepatic transaminase, Hepatomegaly, Hepatic fibrosis, Hepatocellular carcinoma, Hepatic ...	ORPHA:247585
Huntington Disease-Like 2	Weight loss	ORPHA:98934
Kaposi Sarcoma	Skin rash, Abnormality of the spleen, Abnormal lung morphology, Weight loss, Abnormality of the l...	ORPHA:33276
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Leukocytosis, Oliguria, Weight loss, Lymphocytosis, Hypochromic anemia,...	ORPHA:514
Nephrotic Syndrome, Type 8	Diffuse mesangial sclerosis, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease,...	OMIM:615244
Relapsing Polychondritis	Abnormal endocardium morphology, Episcleritis, Pericarditis, Chondritis of pinna, Keratitis, Dysp...	ORPHA:728
Alport Syndrome 2, Autosomal Recessive	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne...	OMIM:203780
Nephroblastoma	Weight loss, Hematuria, Neoplasm of the liver, Neoplasm of the lung, Hypertension, Nephroblastoma	ORPHA:654
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive	Pulmonary embolism, Vitreous hemorrhage, Purpura	OMIM:612304
Kawasaki Disease	Pericarditis, Abnormal heart valve morphology, Skin rash, Myocarditis, Congestive heart failure, ...	ORPHA:2331
Joubert Syndrome With Hepatic Defect	Elevated hepatic transaminase, Hepatomegaly, Apnea, Portal hypertension, Abnormal pattern of resp...	ORPHA:1454
Hb Bart'S Hydrops Fetalis	Splenomegaly, Congestive heart failure, Pericarditis, Hepatomegaly	ORPHA:163596
Toxic Epidermal Necrolysis	Respiratory distress, Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, ...	ORPHA:537
Myopathy With Lactic Acidosis, Hereditary	Sideroblastic anemia, Skeletal muscle atrophy, Elevated circulating creatine kinase concentration...	OMIM:255125
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Reduced subcutaneous adipose tissue, Lipodystrophy, Lipoatrophy, Cachexia, Abnormal hair morpholo...	ORPHA:1979
Aa Amyloidosis	Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Cholestasis, Nephro...	ORPHA:85445
Cystic Fibrosis	Recurrent Aspergillus infections, Recurrent respiratory infections, Elevated hepatic transaminase...	ORPHA:586
Mitochondrial Neurogastrointestinal Encephalomyopathy	Elevated hepatic transaminase, Decreased muscle mass, Foot dorsiflexor weakness, Cachexia, Ragged...	ORPHA:298
Dent Disease	Renal insufficiency, Hyperphosphaturia, Proteinuria, Elevated circulating creatine kinase concent...	ORPHA:1652
Agammaglobulinemia 1, Autosomal Recessive	Recurrent respiratory infections, Recurrent pneumonia, Bronchiectasis, Recurrent bacterial infect...	OMIM:601495
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	Nonprogressive muscular atrophy, Distal amyotrophy, Cachexia	ORPHA:1216
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Recurrent bacterial infections	OMIM:202700
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Hepatomegaly, Inflammatory abnormality of the skin, Sinusitis, Skin rash, Pneumonia, Recurrent vi...	OMIM:102700
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Cachexia, Methylmalo...	ORPHA:1933
Zygomycosis	Fasciitis, Sinusitis, Acute infectious pneumonia, Colitis, Cough, Infectious encephalitis, Nephri...	ORPHA:73263
Cockayne Syndrome Type 1	Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Proteinuria, Scarring, Foot joi...	ORPHA:90321
Celiac Disease, Susceptibility To, 1	Elevated hepatic transaminase, Macrocytic anemia, Alopecia, Eczema, Thyroiditis, Weight loss, Iro...	OMIM:212750
Bile Acid Synthesis Defect, Congenital, 1	Conjugated hyperbilirubinemia, Steatorrhea, Hypocholesterolemia	OMIM:607765
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Hepatomegaly, Ketonuria, Elevated circulating creatine kinase concentration, Microcytic anemia, D...	OMIM:251900
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Recurrent respiratory infections, Tracheobronchial leiomyomatosis, Proteinuria, Keratitis, Dyspne...	ORPHA:1018
Malignant Hyperthermia Of Anesthesia	Acute hepatic failure, Exercise-induced rhabdomyolysis, Elevated creatine kinase after exercise, ...	ORPHA:423
Maternal Uniparental Disomy Of Chromosome 4	Neurogenic bladder, Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Dec...	ORPHA:96180
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Respiratory distress, Skeletal muscle atrophy, Apnea, Flexion contracture, Ragged-red muscle fibe...	ORPHA:17
Necrotizing Enterocolitis	Hyponatremia, Hyperglycemia, Abnormal glucose homeostasis	ORPHA:391673
Fabry Disease	Conjunctival telangiectasia, Bundle branch block, Atrioventricular block, Nephropathy, Emphysema,...	ORPHA:324
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Ragged-red muscle fibers, Slender build, Cachexia, Weight loss	OMIM:613662
Fabry Disease	Renal insufficiency, Proteinuria, Angina pectoris, Myocardial infarction, Transient ischemic atta...	OMIM:301500
Immune-Mediated Necrotizing Myopathy	Myositis, Skin rash, Raynaud phenomenon, Congestive heart failure, Myocarditis, Palpitations	ORPHA:206569
Klippel-Trénaunay Syndrome	Gastrointestinal hemorrhage, Prolonged bleeding time, Hepatomegaly, Pulmonary embolism, Congestiv...	ORPHA:90308
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Nephropathy, Proteinuria, Camptodactyly of finger, Cachexia	ORPHA:2774
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe	Bifid sternum	OMIM:140850
Mandibuloacral Dysplasia With Type A Lipodystrophy	Calcinosis, Impaired glucose tolerance, Hyperlipidemia, Insulin-resistant diabetes mellitus, Hype...	OMIM:248370
Chédiak-Higashi Syndrome	Abnormal bleeding, Recurrent bacterial skin infections, Recurrent respiratory infections, Elevate...	ORPHA:167
Leiomyomatosis, Diffuse, With Alport Syndrome	Renal insufficiency, Failure to thrive, Proteinuria, Tracheobronchial leiomyomatosis, Glomerular ...	OMIM:308940
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Splenomegaly, Hepatomegaly, Weight loss	ORPHA:86893
Spondyloenchondrodysplasia	Pancytopenia, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Proteinuria, Autoimmune thromboc...	ORPHA:1855
Intestinal Dysmotility Syndrome	Failure to thrive, Weight loss	OMIM:620045
Classic Hodgkin Lymphoma	Hepatomegaly, Skin rash, Splenomegaly, Respiratory insufficiency, Weight loss, Cough	ORPHA:391
Aicardi-Goutieres Syndrome 7	Atrophic gastritis, Hepatic steatosis, Hepatomegaly, Hemolytic anemia, Chilblains, Vasculitis, He...	OMIM:615846
Proteasome-Associated Autoinflammatory Syndrome 2	Neutrophilic infiltration of the skin, Recurrent bacterial infections, Skin rash, Recurrent viral...	OMIM:618048
Giant Cell Arteritis	Pericarditis, Renal insufficiency, Alopecia, Epistaxis, Abnormal pleura morphology, Sudden cardia...	ORPHA:397
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Micropenis, Hypocholesterolemia	OMIM:618810
Inflammatory Pseudotumor Of The Liver	Elevated circulating aspartate aminotransferase concentration, Elevated circulating alpha-fetopro...	ORPHA:90003
Isaacs Syndrome	Calf muscle hypertrophy, Weight loss	ORPHA:84142
Trichohepatoenteric Syndrome 1	Aortic regurgitation, Hepatomegaly, Ventricular septal defect, Abnormality of the pancreas, Jaund...	OMIM:222470
Adrenocortical Carcinoma	Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr...	ORPHA:1501
Becker Muscular Dystrophy	Elevated hepatic transaminase, Abnormal urinary color, Skeletal muscle atrophy, Elevated circulat...	ORPHA:98895
Neuroblastoma, Susceptibility To, 1	Elevated urinary catecholamine level, Elevated urinary dopamine level, Abnormality of urine catec...	OMIM:256700
Gm1 Gangliosidosis	Recurrent respiratory infections, Inguinal hernia, Camptodactyly of finger, Splenomegaly, Patent ...	ORPHA:354
Short Syndrome	Insulin resistance, Glucose intolerance, Hyperglycemia, Insulin-resistant diabetes mellitus	OMIM:269880
Glycogen Storage Disease X	Renal insufficiency, Elevated circulating creatine kinase concentration, Rhabdomyolysis, Myopathy...	OMIM:261670
Shigellosis	Pneumonia, Myocarditis, Peritonitis, Sepsis, Cholestasis, Uveitis, Ulcerative colitis, Arthritis,...	ORPHA:810
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Elevated circulating C-reactive protein concentration, Sterile pyuria, Renal i...	ORPHA:91500
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Polycystic liver disease, Recurrent urinary tract infections, Pancreatic cys...	ORPHA:730
Dend Syndrome	Hyperglycemia, Elevated hemoglobin A1c	ORPHA:79134
Inflammatory Bowel Disease (Crohn Disease) 1	Ulcerative colitis, Weight loss, Inflammation of the large intestine, Recurrent aphthous stomatit...	OMIM:266600
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Cyanosis, Proteinuria, Failure to thrive in infancy, Chronic kidney disease, Tubulointerstitial n...	ORPHA:488627
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Urethral stricture, Flexion contracture, Gastrointestinal inflammation, Iron deficiency anemia, U...	ORPHA:79408
Rabson-Mendenhall Syndrome	Impaired glucose tolerance, Insulin resistance, Fasting hyperinsulinemia, Insulin-resistant diabe...	ORPHA:769
Follicular Lymphoma	Abnormal peritoneum morphology, Splenomegaly, Pleural effusion, Weight loss	ORPHA:545
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Hepatomegaly, Reticulocytosis, Splenomegaly, Jaundice, Increased circulating ferritin concentrati...	OMIM:194380
Systemic Lupus Erythematosus, Susceptibility To, 6	Arthritis, Pericarditis, Malar rash	OMIM:609939
Imerslund-Grasbeck Syndrome 1	Microscopic hematuria, Proteinuria, Megaloblastic anemia	OMIM:261100
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Persistent fetal circulation, Small for gestational age, Elevated circulating creatine kinase con...	OMIM:618775
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Tachycardia, Eosinophilia,...	ORPHA:98849
Mitchell-Riley Syndrome	Hyperglycemia, Diabetes mellitus, Hyperbilirubinemia	OMIM:615710
Thrombophilia Due To Protein S Deficiency, Autosomal Dominant	Purpura, Pulmonary embolism	OMIM:612336
Hypouricemia, Renal, 2	Hypouricemia, Nephrolithiasis	OMIM:612076
Sarcoidosis, Susceptibility To, 1	Uveitis, Inflammation of the large intestine, Cough, Emphysema, Hepatomegaly, Bronchiectasis, Res...	OMIM:181000
Glycogen Storage Disease Xi	Increased serum pyruvate, Renal insufficiency, Elevated circulating creatine kinase concentration...	OMIM:612933
Congenital Nephrotic Syndrome, Finnish Type	Elevated amniotic fluid alpha-fetoprotein, Nephrotic syndrome, Proteinuria, Abnormal renal tubule...	ORPHA:839
Atrial Septal Defect, Ostium Primum Type	First degree atrioventricular block, Tachypnea, Atrioventricular block, Fixed splitting of the se...	ORPHA:99106
Melas	Wolff-Parkinson-White syndrome, Proteinuria, Cardiac conduction abnormality, Nephropathy, Dilated...	ORPHA:550
Infection-Related Hemolytic Uremic Syndrome	Increased circulating interleukin 6 concentration, Anuria, Hypocalcemia, Nephrotic range proteinu...	ORPHA:544482
Ethylene Glycol Poisoning	Tachypnea, Hypocalcemia, Facial palsy, Episodic respiratory distress, Renal tubular dysfunction, ...	ORPHA:31826
Chylomicron Retention Disease	Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia	ORPHA:71
Immunodeficiency 10	Recurrent bacterial infections, Recurrent infections	OMIM:612783
Immunodeficiency 22	Pericarditis, Recurrent upper respiratory tract infections, Capillary leak, Panniculitis, Chronic...	OMIM:615758
Joubert Syndrome 6	Bile duct proliferation, Hepatic fibrosis, Breathing dysregulation	OMIM:610688
Glycogen Storage Disease V	Dark urine, Exercise-induced rhabdomyolysis, Elevated circulating creatine kinase concentration, ...	OMIM:232600
Gillessen-Kaesbach-Nishimura Syndrome	Periportal fibrosis, Abnormal heart morphology	OMIM:263210
Abetalipoproteinemia	Abnormal bleeding, Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Congestive heart fa...	ORPHA:14
Familial Mediterranean Fever	Acute hepatic failure, Pericarditis, Skin rash, Proteinuria, Myocardial infarction, Orchitis, Spl...	ORPHA:342
Galloway-Mowat Syndrome 3	Diffuse mesangial sclerosis, Proteinuria, Hiatus hernia, Stage 5 chronic kidney disease, Nephroti...	OMIM:617729
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4	Elevated circulating creatine kinase concentration, Calf muscle hypertrophy, Cardiomyopathy, Myop...	ORPHA:119
Peripheral Primitive Neuroectodermal Tumor	Neoplasm of the pancreas, Torticollis, Elevated carcinoma antigen 125 level, Elevated circulating...	ORPHA:370348
Diencephalic Syndrome	Long penis, Cachexia, Decreased body weight	ORPHA:1672
Acute Adrenal Insufficiency	Normocytic anemia, Hyponatremia, Renal insufficiency, Decreased circulating cortisol level, Ortho...	ORPHA:95409
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hyponatremia, Reduced blood urea nitrogen, Hypernatriuria, Hyposthenuria, Decreased serum creatin...	OMIM:300539
Congenital Alpha2-Antiplasmin Deficiency	Abnormal bleeding, Intracranial hemorrhage, Abnormal umbilical stump bleeding, Gingival bleeding,...	ORPHA:79
Pearson Syndrome	Renal cyst, Abnormality of the liver, Hypocalcemia, Neutropenia, Hepatic steatosis, Hepatomegaly,...	ORPHA:699
Idiopathic Congenital Hypothyroidism	Hypothermia, Macroglossia, Bradycardia, Prolonged neonatal jaundice, Umbilical hernia, Neonatal h...	ORPHA:95717
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Weight loss, Panniculitis, Hemophagocytosis, Hepatosplenomegaly	ORPHA:86884
Mirage Syndrome	Recurrent urinary tract infections, Patent ductus arteriosus, Sepsis, Intracranial hemorrhage, Re...	OMIM:617053
Whim Syndrome	Sinusitis, Severe periodontitis, Pneumonia, Lymphadenitis, Recurrent pneumonia, Recurrent upper r...	ORPHA:51636
Castleman Disease	Renal insufficiency, Increased circulating interleukin 6 concentration, Elevated circulating C-re...	ORPHA:160
Mitochondrial Complex Iv Deficiency, Nuclear Type 13	Aortic regurgitation, Tricuspid regurgitation, Hypothermia, Patent ductus arteriosus, Tachypnea, ...	OMIM:616501
Behçet Disease	Myositis, Myocardial infarction, Pulmonary embolism, Infectious encephalitis, Glomerulopathy, Acn...	ORPHA:117
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations	Elevated hepatic transaminase, Gastrointestinal hemorrhage, Proteinuria, Raynaud phenomenon, Micr...	OMIM:192315
Central Diabetes Insipidus	Hyponatremia, Failure to thrive, Nocturia, Weight loss	ORPHA:178029
Bardet-Biedl Syndrome	Hypertension, Hepatic fibrosis	ORPHA:110
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Respiratory distress, Hypothermia, Large for gestational age, Macroglossia, Bradycardia, Prolonge...	ORPHA:226313
Spontaneous Periodic Hypothermia	Arrhythmia, Skin rash, Abnormal pattern of respiration, Hypothermia	ORPHA:29822
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Chronic gastritis, Recurrent respiratory infections, Increased circulating interleukin 6 concentr...	OMIM:301074
Polycythemia Vera	Gastrointestinal hemorrhage, Hepatomegaly, Angina pectoris, Epistaxis, Portal hypertension, Pulmo...	ORPHA:729
Erdheim-Chester Disease	Renal insufficiency, Osteomyelitis, Skin rash, Dysuria, Retroperitoneal fibrosis, Dyspnea, Conges...	ORPHA:35687
Immunodeficiency 21	Osteomyelitis, Recurrent fungal infections, Recurrent mycobacterium avium complex infections, Rec...	OMIM:614172
Rheumatoid Arthritis	Elevated circulating C-reactive protein concentration, Vasculitis, Weight loss, Digital flexor te...	OMIM:180300
Imerslund-Grasbeck Syndrome 2	Proteinuria, Megaloblastic anemia	OMIM:618882
Fanconi Renotubular Syndrome 1	Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica...	OMIM:134600
Primary Intestinal Lymphangiectasia	Decreased circulating IgG level, Hypoproteinemia, Peritoneal effusion, Weight loss, Decreased cir...	ORPHA:90362
Meckel Syndrome 14	Tricuspid regurgitation, Pneumothorax, Cardiorespiratory arrest, Mitral regurgitation, Hepatic fi...	OMIM:619879
Cystinosis, Nephropathic	Skeletal muscle atrophy, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria,...	OMIM:219800
Leptospirosis	Respiratory distress, Hepatomegaly, Pericarditis, Skin rash, First degree atrioventricular block,...	ORPHA:509
Mulibrey Nanism	Hepatomegaly, Cachexia	ORPHA:2576
Inflammatory Bowel Disease 11	Hematochezia, Inflammation of the large intestine, Weight loss	OMIM:191390
Ménétrier Disease	Gastrointestinal hemorrhage, Hypochromic microcytic anemia, Weight loss, Hypoalbuminemia, Hypopro...	ORPHA:2494
Primary Fanconi Renotubular Syndrome	Decreased circulating carnitine concentration, Hypouricemia, Increased urinary potassium, Chronic...	ORPHA:3337
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Jaundice, Leukocytosis, Hemoglobinuria, Poikilocytos...	OMIM:300908
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Glomerulopathy, Renal insufficiency, Proteinuria, Hypercalcemia, Anemia	ORPHA:2668
2-Methylbutyryl-Coa Dehydrogenase Deficiency	Apneic episodes in infancy, Generalized amyotrophy, Hypothermia, 2-ethylhydracylic aciduria	OMIM:610006
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Sparse scalp hair, Sparse eyelashes, Proteinuria, Sparse eyebrow, Hematuria, Tubulointerstitial n...	OMIM:616901
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Fulminant hepatic failure, Dicarboxylic aciduria, Dilated cardiomyopathy, Hepatic necrosis, Hyper...	OMIM:231530
Nodular Non-Suppurative Panniculitis	Hepatomegaly, Splenomegaly, Weight loss, Panniculitis, Inflammatory abnormality of the eye	ORPHA:33577
Meningococcal Meningitis	Shock, Renal insufficiency, Neonatal respiratory distress, Skin rash, Elevated circulating C-reac...	ORPHA:33475
Renal Cysts And Diabetes Syndrome	Renal cyst, Pancreatic hypoplasia, Hypospadias, Abnormality of the kidney, Abnormality of alkalin...	OMIM:137920
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Reticulocytosis, Anuria, Myocardial infarction, Thrombocytopenia, Peritonitis, Leuk...	ORPHA:90038
Kikuchi-Fujimoto Disease	Elevated hepatic transaminase, Hepatomegaly, Alopecia, Skin rash, Elevated circulating C-reactive...	ORPHA:50918
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Pericarditis, Fasciitis, Myositis, Skin rash, Orchitis, Splenomegaly, Recurrent pharyngitis, Vasc...	ORPHA:32960
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Respiratory distress, Hypomethioninemia, Pulmonary embolism, Megaloblastic anemia, Hyperhomocysti...	ORPHA:79282
Galloway-Mowat Syndrome 4	Diffuse mesangial sclerosis, Congenital nephrotic syndrome, Proteinuria, Stage 5 chronic kidney d...	OMIM:617730
Mast Cell Sarcoma	Splenomegaly, Hepatomegaly, Mastocytosis, Weight loss	ORPHA:66661
Primary Erythromelalgia	Recurrent respiratory infections, Leukemia, Vasculitis, Hypothermia	ORPHA:90026
Dermatomyositis	Abnormal eosinophil morphology, Myocardial infarction, Inflammatory myopathy, Acrocyanosis, Vascu...	ORPHA:221
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Bronchitis, Elevated circulating C-reactive protein concen...	OMIM:619381
Donnai-Barrow Syndrome	Omphalocele, Proteinuria, Congenital diaphragmatic hernia, Widow's peak, Umbilical hernia	ORPHA:2143
Isolated Sedoheptulokinase Deficiency	Postprandial hyperglycemia, Renal insufficiency, Steatorrhea	ORPHA:440713
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency	Increased serum pyruvate, Renal insufficiency, Elevated circulating creatine kinase concentration...	ORPHA:2364
Alport Syndrome 1, X-Linked	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne...	OMIM:301050
Primary Myelofibrosis	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Increased circulating lactate dehydroge...	ORPHA:824
Reactive Arthritis	Aortic regurgitation, Pericarditis, Osteomyelitis, Recurrent urinary tract infections, Abnormal p...	ORPHA:29207
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome	Constrictive pericarditis, Arthritis	OMIM:208250
Proteinuria, Chronic Benign	Albuminuria, Renal insufficiency, Proteinuria	OMIM:618884
Marburg Hemorrhagic Fever	Elevated circulating creatine kinase concentration, Nonproductive cough, Uveitis, Leukopenia, Hyp...	ORPHA:99826
Meckel Syndrome, Type 6	Absent gallbladder, Cystic liver disease, Bile duct proliferation, Hepatic fibrosis, Hepatic cysts	OMIM:612284
Coenzyme Q10 Deficiency, Primary, 5	Hypothermia, Respiratory insufficiency, Bradycardia, Left ventricular hypertrophy, Hyperalaninemi...	OMIM:614654
Malignant Hyperthermia, Susceptibility To, 1	Tachycardia, Elevated circulating creatine kinase concentration, Rhabdomyolysis, Hyperkalemia, Hy...	OMIM:145600
Mitochondrial Dna-Associated Leigh Syndrome	Hepatomegaly, Failure to thrive, Multiple glomerular cysts, Apnea, Abnormal renal tubule morpholo...	ORPHA:255210
Hereditary Hemorrhagic Telangiectasia	Conjunctival telangiectasia, Gastrointestinal hemorrhage, Transient ischemic attack, Epistaxis, P...	ORPHA:774
Poems Syndrome	Thrombocytosis, Lipodystrophy, Respiratory insufficiency due to muscle weakness, Leukonychia, Wei...	ORPHA:2905
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosc...	OMIM:254900
Riboflavin Transporter Deficiency	Skeletal muscle atrophy, Facial palsy, Cachexia, Respiratory insufficiency, Hypertension, Limb mu...	ORPHA:97229
Moynahan Syndrome	Sparse hair, Alopecia, Cachexia	ORPHA:2574
Alström Syndrome	Respiratory distress, Urinary incontinence, Functional abnormality of the bladder, Hepatic fibros...	ORPHA:64
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Elevated hepatic transaminase, Ketonuria, Elevated circulating creatine kinase concentration, Car...	OMIM:616878
Anaplastic Thyroid Carcinoma	Respiratory distress, Dyspnea, Upper airway obstruction, Weight loss, Stridor, Neoplasm of the lu...	ORPHA:142
Neuroendocrine Tumor Of The Colon	Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Right ventricular failure, ...	ORPHA:100080
Aredyld Syndrome	Hepatomegaly, Lipoatrophy, Abnormal dental enamel morphology, Cachexia, Splenomegaly, Abnormality...	ORPHA:1133
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive	Purpura, Cerebral hemorrhage, Pulmonary embolism	OMIM:614514
Hermansky-Pudlak Syndrome 2	Prolonged bleeding time, Hepatomegaly, Splenomegaly, Recurrent pneumonia, Hepatosplenomegaly, Rec...	OMIM:608233
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness	Increased serum pyruvate, Renal insufficiency, Small for gestational age, Hypochromic microcytic ...	OMIM:619147
Fanconi Renotubular Syndrome 2	Renal insufficiency, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Hypophosphatemia, Re...	OMIM:613388
Renal Nutcracker Syndrome	Orthostatic hypotension, Tachycardia, Proteinuria, Weight loss, Hematuria, Syncope, Renal artery ...	ORPHA:71273
Congenital Enterocyte Heparan Sulfate Deficiency	Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, We...	ORPHA:103910
Absence Of The Pulmonary Artery	Cardiomegaly, Nonproductive cough, Atrial septal defect, Patent foramen ovale, Abnormal EKG, Pate...	ORPHA:980
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Hyponatremia, Decreased circulating cortisol level, Macrocytic anemia, Orthost...	ORPHA:199299
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Immunodeficiency 31C	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Lymphopenia, Osteomyeli...	OMIM:614162
Riboflavin Deficiency	Elevated circulating acylcarnitine concentration, Dicarboxylic aciduria, Hypothermia	OMIM:615026
Spastic Paraplegia Type 2	Recurrent respiratory infections, Pulmonary embolism	ORPHA:99015
Agel Amyloidosis	Proteinuria, Facial palsy, Respiratory tract infection, Stage 5 chronic kidney disease, Cardiomyo...	ORPHA:85448
Pheochromocytoma--Islet Cell Tumor Syndrome	Tachycardia, Proteinuria, Hypercalcemia, Cerebral hemorrhage, Elevated urinary norepinephrine lev...	OMIM:171420
Pyomyositis	Recurrent cutaneous abscess formation, Myositis, Renal insufficiency, Sudden cardiac death, Leuko...	ORPHA:764
Familial Thyroid Dyshormonogenesis	Hypothermia, Macroglossia, Bradycardia, Prolonged neonatal jaundice, Umbilical hernia, Abnormal c...	ORPHA:95716
Solitary Fibrous Tumor	Abnormal peritoneum morphology, Reduced C-peptide level, Weight loss, Neoplasm of the lung, Neopl...	ORPHA:2126
Papillorenal Syndrome	Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d...	OMIM:120330
Osteosarcoma	Increased circulating lactate dehydrogenase concentration, Elevated circulating alkaline phosphat...	ORPHA:668
Cranioectodermal Dysplasia 1	Recurrent respiratory infections, Hepatomegaly, Bicuspid aortic valve, Malformation of the hepati...	OMIM:218330
Chediak-Higashi Syndrome	Spontaneous, recurrent epistaxis, Recurrent bacterial skin infections, Recurrent systemic pyogeni...	OMIM:214500
Oculocerebrorenal Syndrome Of Lowe	Hypoammonemia, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Periodontitis, Chronic otitis...	ORPHA:534
Frasier Syndrome	Glomerulopathy, Renal insufficiency, Proteinuria, Focal segmental glomerulosclerosis, Nephrotic s...	ORPHA:347
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Elevated hepatic transaminase, Hepatomegaly, Recurrent respiratory infections, Small for gestatio...	ORPHA:404454
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Hemolytic anemia, Renal insufficiency, Decreased hemoglobin concentration, Reticulocytosis, Rhabd...	ORPHA:713
Neuroendocrine Tumor Of The Rectum	Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Right ventricular failure, ...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Right ventricular failure, ...	ORPHA:100082
Dyskeratosis Congenita, Autosomal Dominant 2	Dilated cardiomyopathy, Hepatic fibrosis	OMIM:613989
Tropical Endomyocardial Fibrosis	Increased circulating interleukin 6 concentration, Prolonged QRS complex, Restrictive cardiomyopa...	ORPHA:75565
Bardet-Biedl Syndrome 20	Elevated hepatic transaminase, Proteinuria, Asthma, Obesity, Hypercholesterolemia, Micropenis, Pa...	OMIM:619471
Coccidioidomycosis	Respiratory distress, Abnormality of the spleen, Abnormality of the liver, Morbilliform rash, Cou...	ORPHA:228123
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome	Increased inflammatory response, Pericarditis, Knee osteoarthritis, Mitral valve prolapse, Mitral...	ORPHA:2848
Wolman Disease	Hepatomegaly, Cachexia, Bone-marrow foam cells, Splenomegaly, Steatorrhea, Hepatic failure, Anemia	ORPHA:75233
Phosphoglycerate Kinase 1 Deficiency	Hemolytic anemia, Renal insufficiency, Reticulocytosis, Exercise-induced myoglobinuria, Rhabdomyo...	OMIM:300653
Progressive Nodular Histiocytosis	Cachexia	ORPHA:158022
Malignant Atrophic Papulosis	Gastrointestinal hemorrhage, Telangiectasia of the skin, Myocardial infarction, Peritonitis, Weig...	ORPHA:679
Peroxisome Biogenesis Disorder 1A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Neonatal respiratory distress, Hypospadias, Patent...	OMIM:214100
Dent Disease 1	Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N...	OMIM:300009
Galloway-Mowat Syndrome 10	Diffuse mesangial sclerosis, Podocyte foot process effacement, Proteinuria, Stage 5 chronic kidne...	OMIM:619609
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Generalized lymphadenopathy, Aplasia of the thymus, Splenomegaly, Lymph node hypoplasia, Absent t...	OMIM:602450
Congenital Fiber-Type Disproportion Myopathy	Flexion contracture, Knee flexion contracture, Aspiration pneumonia, Foot dorsiflexor weakness, H...	ORPHA:2020
Pemphigus Vulgaris	Atypical scarring of skin, Recurrent cutaneous abscess formation, Weight loss	ORPHA:704
Leprechaunism	Insulin resistance, Long penis, Hyperinsulinemia, Hypercalciuria, Nephrocalcinosis, Hypokalemia, ...	ORPHA:508
Alg12-Cdg	Hyponatremia, Hypospadias, Recurrent hypoglycemia, Hypoalbuminemia, Hypocholesterolemia, Micropenis	ORPHA:79324
Denys-Drash Syndrome	Proteinuria, Nephrotic syndrome, Hypertension, Nephropathy, Nephroblastoma	ORPHA:220
Mucolipidosis Type Ii	Dry hair, White hair, Knee flexion contracture, Otitis media, Telangiectases of the cheeks, Hepat...	ORPHA:576
Multiple Myeloma	Hypercalcemia, Increased circulating IgA level, Splenomegaly, Elevated circulating creatinine con...	ORPHA:29073
Thyrotoxic Periodic Paralysis	Prolonged QT interval, Episodic hypokalemia, Transient hypophosphatemia, Decreased urinary potass...	ORPHA:79102
Neuroendocrine Tumor Of Stomach	Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Right ventricular failure, ...	ORPHA:100075
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Recurrent respiratory infections, Hepatomegaly, Cholangitis, Pancreatic cysts, Congenital hepatic...	OMIM:266920
Perry Syndrome	Central hypoventilation, Hypotension, Weight loss	ORPHA:178509
Malignant Peritoneal Mesothelioma	Dyspnea, Peritonitis, Weight loss	ORPHA:168811
Bullous Pemphigoid	Psoriasiform dermatitis, Eczema, Weight loss	ORPHA:703
Oculopharyngodistal Myopathy 1	Respiratory distress, Paroxysmal atrial fibrillation, Autophagic vacuoles, Elevated circulating c...	OMIM:164310
Spinocerebellar Ataxia 48	Urinary incontinence, Cachexia	OMIM:618093
Hypouricemia, Renal, 1	Proteinuria, Hypouricemia, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricos...	OMIM:220150
Galloway-Mowat Syndrome 1	Diffuse mesangial sclerosis, Renal insufficiency, Proteinuria, Small for gestational age, Hiatus ...	OMIM:251300
Classic Pantothenate Kinase-Associated Neurodegeneration	Weight loss, Aspiration pneumonia, Cough	ORPHA:216866
Cardiogenic Shock	Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction...	ORPHA:97292
Cap Polyposis	Hematochezia, Atrophic gastritis, Weight loss	ORPHA:160148
Autosomal Dominant Epidermolytic Ichthyosis	Weight loss, Erythroderma	ORPHA:312
Huntington Disease-Like 2	Weight loss	OMIM:606438
Congenital Disorder Of Deglycosylation 1	Respiratory distress, Recurrent respiratory infections, Hepatomegaly, Elevated hepatic transamina...	OMIM:615273
Desmoplastic Small Round Cell Tumor	Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Cachexia, Weight loss, Ne...	ORPHA:83469
Renpenning Syndrome	Abnormal hairshaft morphology, Alopecia, Skeletal muscle atrophy, Hypospadias, Cachexia, Thin eye...	ORPHA:3242
Myoglobinuria, Autosomal Dominant	Myoglobinuria, Acute kidney injury, Elevated circulating creatine kinase concentration	OMIM:160010
Distal Renal Tubular Acidosis	Hemolytic anemia, Hyperphosphaturia, Failure to thrive, Hypocitraturia, Respiratory insufficiency...	ORPHA:18
Thymic Neuroendocrine Tumor	Calcium nephrolithiasis, Pancreatic islet cell adenoma, Hypercalcemia, Weight loss, Increased cir...	ORPHA:97289
Acquired Hypertrichosis Lanuginosa	Abnormal eyebrow morphology, Hypopigmentation of hair, Fine hair, Weight loss, Macroglossia, Gene...	ORPHA:2221
Ileal Neuroendocrine Tumor	Elevated hepatic transaminase, Tricuspid stenosis, Right ventricular failure, Arterial occlusion,...	ORPHA:100078
Gaucher Disease	Hepatomegaly, Pancytopenia, Osteomyelitis, Proteinuria, Elevated circulating C-reactive protein c...	ORPHA:355
Cornelia De Lange Syndrome 1	Congenital diaphragmatic hernia, Ectopic kidney, Synophrys, Renal cyst, Otitis media, Vesicourete...	OMIM:122470
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Elevated hepatic transaminase, Cholangitis, Microvesicular hepatic steatosis, Cholestasis, Tubulo...	OMIM:124000
Glucose-Galactose Malabsorption	Renal insufficiency, Hypercalcemia, Nephrolithiasis, Weight loss, Hematuria, Hypernatremia, Failu...	ORPHA:35710
Arima Syndrome	Hepatomegaly, Proteinuria, Polyuria, Dyspnea, Tachypnea, Stage 5 chronic kidney disease, Hematuri...	OMIM:243910
Alpha-2-Plasmin Inhibitor Deficiency	Bruising susceptibility, Joint hemorrhage, Persistent bleeding after trauma, Hemothorax	OMIM:262850
Ciliary Dyskinesia, Primary, 20	Atrial situs inversus, Recurrent respiratory infections, Ventricular septal defect, Dextrocardia,...	OMIM:615067
Parathyroid Carcinoma	Pancreatic adenocarcinoma, Renal insufficiency, Renal hamartoma, Hypercalcemia, Shortened QT inte...	ORPHA:143
Familial Mediterranean Fever	Hepatomegaly, Pericarditis, Orchitis, Splenomegaly, Peritonitis, Erysipelas, Arthritis, Crohn's d...	OMIM:249100
Secondary Short Bowel Syndrome	Low plasma citrulline, Enterocolitis, Cholestasis, Weight loss, Abnormal blood ion concentration,...	ORPHA:95427
Joubert Syndrome 1	Central apnea, Hepatic fibrosis, Episodic tachypnea, Neonatal breathing dysregulation	OMIM:213300
Eisenmenger Syndrome	Respiratory distress, Ventricular tachycardia, Aortopulmonary window, Abnormality of the liver, B...	ORPHA:97214
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Tachycardia, Rhabdomyolysis, Weight loss, Hypokalemia, Palpitations	OMIM:188580
Cronkhite-Canada Syndrome	Hepatomegaly, Alopecia, Cachexia, Splenomegaly, Aplasia/Hypoplasia of the eyebrow, Dystrophic toe...	ORPHA:2930
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Neonatal respiratory distress, Recurrent urinary tract infections, Psoriasiform dermatitis, Recur...	ORPHA:221139
Christianson Syndrome	Arthrogryposis multiplex congenita, Thick eyebrow, Decreased muscle mass, Cachexia	ORPHA:85278
Proximal Renal Tubular Acidosis	Hyperphosphaturia, Enamel hypomineralization, Bicarbonaturia, Bicarbonate-wasting renal tubular a...	ORPHA:47159
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Congenital hepatic fibrosis, Respiratory insufficiency	ORPHA:2031
Peritoneal Cystic Mesothelioma	Peritonitis, Weight loss	ORPHA:168816
Bardet-Biedl Syndrome 1	Asthma, Biliary tract abnormality, Hypertension, Hepatic fibrosis, Left ventricular hypertrophy	OMIM:209900
Familial Glucocorticoid Deficiency	Hyponatremia, Decreased circulating cortisol level, Recurrent urinary tract infections, Renal sal...	ORPHA:361
Nail-Patella Syndrome	Renal insufficiency, Decreased muscle mass, Proteinuria, Abnormality of the kidney, Contracture o...	ORPHA:2614
Frasier Syndrome	Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:136680
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Hepatic fibrosis	OMIM:614091
Isolated Permanent Neonatal Diabetes Mellitus	Failure to thrive, Ketonuria, Abnormality of the upper urinary tract, Moderate albuminuria, Hypov...	ORPHA:99885
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Spontaneous, recurrent epistaxis, Mitral valve calcification, Abnormality of the spleen, Splenome...	ORPHA:2072
Shwachman-Diamond Syndrome	Elevated hepatic transaminase, Hepatomegaly, Sinusitis, Skin rash, Pneumonia, Eczema, Recurrent v...	ORPHA:811
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	Inguinal hernia, Apnea, Hypothermia, Bradycardia, Joint contracture, Limb hypertonia	OMIM:614498
Mcdonough Syndrome	Synophrys, Aplasia/Hypoplasia of the abdominal wall musculature, Cachexia	ORPHA:2471
Turner Syndrome Due To Structural X Chromosome Anomalies	Prolonged QT interval, Elevated hepatic transaminase, Atrial septal defect, Bicuspid aortic valve...	ORPHA:99413
Mosaic Monosomy X	Prolonged QT interval, Elevated hepatic transaminase, Atrial septal defect, Bicuspid aortic valve...	ORPHA:99228
Monosomy X	Prolonged QT interval, Elevated hepatic transaminase, Atrial septal defect, Bicuspid aortic valve...	ORPHA:99226
Turner Syndrome	Prolonged QT interval, Elevated hepatic transaminase, Atrial septal defect, Bicuspid aortic valve...	ORPHA:881
Peroxisome Biogenesis Disorder 1B	Hepatomegaly, Hepatic fibrosis, Cirrhosis	OMIM:601539
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome	Cachexia	ORPHA:1144
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Renal insu...	OMIM:614748
Pulmonary Hypertension, Primary, 4	Atrial flutter, Pulmonary arterial hypertension with lack of acute response to NO challenge, Firs...	OMIM:615344
Sudden Infant Death-Dysgenesis Of The Testes Syndrome	Hypoplasia of penis, Cardiac arrest, Hypothermia, Arrhythmia, Abnormal pattern of respiration	ORPHA:168593
Immunoglobulin A Vasculitis	Episcleritis, Glomerulopathy, Renal insufficiency, Gastrointestinal hemorrhage, Skin rash, Protei...	ORPHA:761
Mandibuloacral Dysplasia Progeroid Syndrome	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Proteinuria, Elevated hemoglob...	OMIM:619127
Juvenile Huntington Disease	Weight loss	ORPHA:248111
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis	Elevated circulating aspartate aminotransferase concentration, Intrahepatic cholestasis, Elevated...	OMIM:619685
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Proteinuria, Neonatal asphyxia, Heart murmur, Multiple bladder diverticula, Recurrent otitis media	ORPHA:2728
Argininosuccinic Aciduria	Hepatomegaly, Hepatic fibrosis, Elevated circulating aspartate aminotransferase concentration	OMIM:207900
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Iridocyclitis, Knee osteoarthritis, Oligoarthritis, Flexion contracture, Synovitis, Uveitis, Enth...	ORPHA:85408
Addison Disease	Normocytic anemia, Hyponatremia, Decreased circulating cortisol level, Orthostatic hypotension, H...	ORPHA:85138
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hepatomegaly, Pulmonary embolism, Recurrent infections, Budd-Chiari syndrome, Recurrent lower res...	OMIM:226300
Renal Hypodysplasia/Aplasia 1	Proteinuria, Hypertension, Bilateral renal agenesis, Pulmonary hypoplasia, Renal dysplasia	OMIM:191830
Glucagonoma	Neoplasm of the pancreas, Hepatomegaly, Gastrointestinal hemorrhage, Skin rash, Hypercalcemia, Ac...	ORPHA:97280
Cockayne Syndrome	Skeletal muscle atrophy, Dry hair, Urinary incontinence, Congenital contracture, Hepatomegaly, Re...	ORPHA:191
Pulmonary Capillary Hemangiomatosis	Right ventricular failure, Diffuse alveolar hemorrhage, Dyspnea, Hemothorax, Pericardial effusion...	ORPHA:199241
Gallbladder Neuroendocrine Tumor	Biliary tract neoplasm, Extrahepatic cholestasis, Intermittent jaundice, Weight loss, Cholecystit...	ORPHA:100086
Idiopathic Pulmonary Arterial Hypertension	Tricuspid regurgitation, Increased pulmonary vascular resistance, Congestive heart failure, Dyspn...	ORPHA:275766
Scorpion Envenomation	Bundle branch block, Tachycardia, Increased circulating lactate dehydrogenase concentration, Acut...	ORPHA:466677
Zollinger-Ellison Syndrome	Increased urinary cortisol level, Gastrointestinal hemorrhage, Hypercalcemia, Jaundice, Extrahepa...	ORPHA:913
Cryoglobulinemia, Familial Mixed	Proteinuria, Chronic kidney disease, Elevated circulating creatinine concentration, Hematuria, Hy...	OMIM:123550
Gaucher Disease Type 3	Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Proteinuria, Splenomegaly, Thromboc...	ORPHA:77261
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced	Myoglobinuria, Renal insufficiency, Rhabdomyolysis	OMIM:255110
8P23.1 Microdeletion Syndrome	Hypospadias, Congenital diaphragmatic hernia, Pulmonary artery stenosis, Patent ductus arteriosus...	ORPHA:251071
Neuropathy, Congenital Hypomyelinating, 3	Limb joint contracture, Cachexia, Flexion contracture, Respiratory insufficiency, Facial diplegia...	OMIM:618186
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Tricuspid regurgitation, Pancreatic fibrosis, Ventricular septal defect, Hepatic fibrosis, Atrial...	OMIM:263520
Congenital Tufting Enteropathy	Weight loss, Arthritis, Cholestatic liver disease, Steatorrhea, Punctate keratitis, Failure to th...	ORPHA:92050
Lowe Oculocerebrorenal Syndrome	Renal insufficiency, Hyperphosphaturia, Increased circulating lactate dehydrogenase concentration...	OMIM:309000
Short-Rib Thoracic Dysplasia 12	Hepatomegaly, Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Respiratory insu...	OMIM:269860
Alg9-Cdg	Hepatomegaly, Tricuspid regurgitation, Ventricular septal defect, Pericardial effusion, Asthma, A...	ORPHA:79328
Arterial Tortuosity Syndrome	Respiratory distress, Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Dyspnea,...	ORPHA:3342
Hermansky-Pudlak Syndrome	Gastrointestinal hemorrhage, Renal insufficiency, Hypopigmentation of hair, Epistaxis, Abnormal d...	ORPHA:79430
Telangiectasia, Hereditary Hemorrhagic, Type 1	Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Brain abscess, High-ou...	OMIM:187300
Chronic Graft Versus Host Disease	Elevated hepatic transaminase, Fasciitis, Pancytopenia, Alopecia, Phimosis, Dyspnea, Wheezing, Pn...	ORPHA:99921
Acrocephalopolydactylous Dysplasia	Pancreatic fibrosis, Hepatomegaly, Hepatic fibrosis, Polysplenia	OMIM:200995
Fanconi Renotubular Syndrome 3	Hyperphosphaturia, Elevated circulating creatinine concentration, Glycosuria, Aminoaciduria, Low-...	OMIM:615605
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency	Myoglobinuria, Rhabdomyolysis, Decreased liver function	OMIM:602199
Pancreatic And Cerebellar Agenesis	Hyperglycemia, Diabetes mellitus, Hypoglycemia	OMIM:609069
Mednik Syndrome	Cirrhosis, Hepatic fibrosis, Cholestasis	OMIM:609313
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Facial hypotonia, Hip contracture, Failure to thrive in infancy, Cachexia	OMIM:616801
Orofaciodigital Syndrome I	Pancreatic cysts, Abnormal heart morphology, Hypertension, Hepatic fibrosis, Hepatic cysts	OMIM:311200
Chromomycosis	Keratitis, Recurrent bacterial infections, Keratoconjunctivitis sicca	ORPHA:182
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Apnea, Hypothermia, Cardiorespiratory arrest, Stridor, Bronchospasm, Bradycardia, Partial develop...	OMIM:608800
Hypophosphatemic Rickets, X-Linked Recessive	Renal insufficiency, Chronic kidney disease, Nephrolithiasis, Hypercalciuria, Hypophosphatemia, N...	OMIM:300554
Menkes Disease	Alopecia, Brittle hair, Decreased circulating ceruloplasmin concentration, Hypothermia, Intracran...	OMIM:309400
Isolated Thyroid-Stimulating Hormone Deficiency	Failure to thrive, Hypothermia, Macroglossia, Umbilical hernia, Bradycardia, Prolonged neonatal j...	ORPHA:90674
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Hepatic steatosis, Exocrine pancreatic insuf...	OMIM:616263
Laubry-Pezzi Syndrome	Aortic regurgitation, Aortic valve prolapse, Mildly reduced left ventricular ejection fraction, B...	ORPHA:99094
Huntington Disease	Abnormal circulating cholesterol concentration, Decreased body mass index, Weight loss	ORPHA:399
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Hip contracture, Hypoventilation, Hypothermia, Recurrent pneumonia, Elbow flexion contracture, Ob...	OMIM:618493
Graves Disease, Susceptibility To, 1	Congestive heart failure, Weight loss	OMIM:275000
Hereditary Central Diabetes Insipidus	Weight loss	ORPHA:30925
Chronic Thromboembolic Pulmonary Hypertension	Reduced vital capacity, Osteomyelitis, Cardiac shunt, Pulmonary embolism, Right ventricular failu...	ORPHA:70591
Malakoplakia	Inflammatory abnormality of the skin, Skin rash, Dysuria, Proteinuria, Orchitis, Urinary bladder ...	ORPHA:556
Pheochromocytoma	Tachycardia, Proteinuria, Hypercalcemia, Cerebral hemorrhage, Elevated urinary norepinephrine lev...	OMIM:171300
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Skeletal muscle atrophy, Scapular winging, Centrally nucleated skeletal muscle fibers, Dilated ca...	OMIM:607459
Alexander Disease Type I	Failure to thrive, Cachexia	ORPHA:363717
Familial Thrombocytosis	Acute myeloid leukemia, Thrombocytosis, Transient ischemic attack, Splenomegaly, Weight loss, Chr...	ORPHA:71493
Dyskeratosis Congenita, Autosomal Recessive 1	Hepatic fibrosis	OMIM:224230
Vici Syndrome	Recurrent respiratory infections, Recurrent viral infections, Congestive heart failure, Dilated c...	OMIM:242840
Colchicine Poisoning	Respiratory distress, Congestive heart failure, Myocarditis, Hypovolemia, Cardiorespiratory arres...	ORPHA:31824
Cockayne Syndrome B	Reduced subcutaneous adipose tissue, Hepatomegaly, Renal insufficiency, Dry hair, Proteinuria, Sm...	OMIM:133540
Holoprosencephaly	Hyponatremia, Omphalocele, Hypoplasia of penis, Proteinuria, Failure to thrive in infancy, Congen...	ORPHA:2162
Nephronophthisis 3	Hepatic fibrosis	OMIM:604387
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Glomerulopathy, Renal insufficiency, Proteinuria, Abnormal hair morphology, Patent ductus arterio...	ORPHA:86818
Myoglobinuria, Recurrent	Ragged-red muscle fibers, Recurrent myoglobinuria, Exercise-induced myoglobinuria	OMIM:550500
Thymic Carcinoma	Dyspnea, Weight loss, Cough	ORPHA:99868
Donnai-Barrow Syndrome	Omphalocele, Diaphragmatic eventration, Proteinuria, Congenital diaphragmatic hernia, Non-acidoti...	OMIM:222448
19Q13.11 Microdeletion Syndrome	Recurrent respiratory infections, Hypospadias, Cachexia, Supernumerary nipple, Fine hair, Sparse ...	ORPHA:217346
Pulmonary Hypertension, Primary, 3	Increased pulmonary vascular resistance, Dyspnea, Elevated pulmonary artery pressure, Pulmonary a...	OMIM:615343
Kenny-Caffey Syndrome, Type 1	Recurrent bacterial infections	OMIM:244460
Infantile Nephropathic Cystinosis	Hyperphosphaturia, Abnormal blood ion concentration, Abnormal tubulointerstitial morphology, Hypo...	ORPHA:411629
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Hyponatremia, Shock, Decreased circulating cortisol level, Acne, Frontal balding, Renal salt wast...	ORPHA:90794
Pelizaeus-Merzbacher Disease	Recurrent respiratory infections, Failure to thrive in infancy, Cachexia, Respiratory insufficien...	ORPHA:702
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency	Purpura, Subcutaneous hemorrhage, Pulmonary embolism	ORPHA:743
Orofaciodigital Syndrome Type 1	Elevated hepatic transaminase, Multicystic kidney dysplasia, Renal insufficiency, Proteinuria, Ab...	ORPHA:2750
Ring Chromosome 10 Syndrome	Hypocalcemia, Cachexia, Renal hypoplasia/aplasia	ORPHA:1438
Acrodermatitis Enteropathica	Abnormal eyebrow morphology, Alopecia, Pustule, Cheilitis, Weight loss, Conjunctivitis, Failure t...	ORPHA:37
Nephronophthisis 11	Hepatic fibrosis	OMIM:613550
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Recurrent respiratory infections, Cachexia	ORPHA:1389
Flynn-Aird Syndrome	Skeletal muscle atrophy, Alopecia, Cachexia	ORPHA:2047
Vipoma	Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Respiratory insufficiency due to muscle we...	ORPHA:97282
Somatostatinoma	Neoplasm of the pancreas, Hepatomegaly, Gastrointestinal hemorrhage, Hypercalcemia, Intrahepatic ...	ORPHA:97283
Hirschsprung Disease	Failure to thrive in infancy, Weight loss	ORPHA:388
Cockayne Syndrome A	Reduced subcutaneous adipose tissue, Hepatomegaly, Renal insufficiency, Hip contracture, Proteinu...	OMIM:216400
Renal Agenesis	Renal insufficiency, Proteinuria, Renal agenesis, Unilateral renal agenesis, Ureteral agenesis, H...	ORPHA:411709
Juvenile Amyotrophic Lateral Sclerosis	Skeletal muscle atrophy, Urinary incontinence, Cachexia, Upper-limb joint contracture, Lower-limb...	ORPHA:300605
Wagro Syndrome	Hypertension, Nephroblastoma, Proteinuria, Obesity	OMIM:612469
Mannosidosis, Alpha B, Lysosomal	Splenomegaly, Recurrent bacterial infections, Hepatomegaly	OMIM:248500
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Alopecia, Cachexia, Hematochezia, Hypokalemia, Hypocalcemia, Nail dystrophy, Hypomagnesemia, Anemia	OMIM:175500
Secondary Intestinal Lymphangiectasia	Reduced circulating transferrin concentration, Hypoalbuminemia, Hypocholesterolemia, Decreased pr...	ORPHA:90363
Meige Disease	Lymph node hypoplasia, Absence of lymph node germinal center	ORPHA:90186
Huntington Disease-Like 1	Weight loss	ORPHA:157941
Schwartz-Jampel Syndrome	Skeletal muscle atrophy, Apnea, Elevated circulating creatine kinase concentration, Low anterior ...	ORPHA:800
Idiopathic Hypereosinophilic Syndrome	Respiratory distress, Cholangitis, Pulmonary embolism, Intracranial hemorrhage, Colitis, Cough, R...	ORPHA:3260
Ectodermal Dysplasia And Immunodeficiency 1	Severe cytomegalovirus infection, Recurrent bacterial infections, Molluscum contagiosum	OMIM:300291
Atypical Werner Syndrome	Hypertriglyceridemia, Diabetes mellitus, Insulin-resistant diabetes mellitus, Fasting hyperinsuli...	ORPHA:79474
Perry Syndrome	Hypoventilation, Central hypoventilation, Respiratory insufficiency, Weight loss, Respiratory arrest	OMIM:168605
Liposarcoma	Abnormality of the kidney, Weight loss	ORPHA:69078
Short Syndrome	Inguinal hernia, Alopecia, Lipodystrophy, Abnormal dental enamel morphology, Weight loss, Sparse ...	ORPHA:3163
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Hypokalemia, Tachycardia, Weight loss	OMIM:613239
Familial Colorectal Cancer Type X	Neoplasm of the pancreas, Renal neoplasm, Pancreatic adenocarcinoma, Gastrointestinal hemorrhage,...	ORPHA:440437
Kaufman Oculocerebrofacial Syndrome	Hypocholesterolemia	OMIM:244450
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Hip contracture, Cachexia, Elbow flexion contracture, Knee flexion contracture, Severe failure to...	ORPHA:371364
Nijmegen Breakage Syndrome	Abnormal hair quantity, Hemolytic anemia, Autoimmune hemolytic anemia, Recurrent sinopulmonary in...	ORPHA:647
Grfoma	Neoplasm of the pancreas, Hepatomegaly, Gastrointestinal hemorrhage, Hypercalcemia, Intrahepatic ...	ORPHA:97261
Galloway-Mowat Syndrome	Proteinuria, Camptodactyly of finger, Hiatus hernia, Nephrotic syndrome, Nephropathy	ORPHA:2065
Ohdo Syndrome	Sparse eyebrow, Proteinuria	OMIM:249620
Fatal Familial Insomnia	Urinary retention, Apnea, Weight loss	OMIM:600072
Blau Syndrome	Nongranulomatous uveitis, Pericarditis, Eczema, Erythema nodosum, Uveitis, Synovitis, Hypertensio...	OMIM:186580
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Respiratory distress, Gastrointestinal inflammation, Conjunctivitis, Neutropenia, Cough, Abnormal...	ORPHA:95455
Menkes Disease	Gastrointestinal hemorrhage, Inguinal hernia, Osteomyelitis, Hypopigmentation of hair, Hypothermi...	ORPHA:565
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hyponatremia, Hyperlipidemia, Hyperkalemia, Enuresis, Hyperglycemia	ORPHA:293987
Paroxysmal Cold Hemoglobinuria	Abnormal urinary color, Autoimmune hemolytic anemia, Recurrent respiratory infections, Hemoglobin...	ORPHA:90035
Infantile Systemic Hyalinosis	Recurrent bacterial infections, Telangiectasia of the skin	ORPHA:2176
Ppoma	Neoplasm of the pancreas, Hepatomegaly, Gastrointestinal hemorrhage, Hypercalcemia, Intrahepatic ...	ORPHA:97278
Laryngotracheoesophageal Cleft Type 4	Abnormality of the spleen, Abnormal mesentery morphology, Cachexia, Respiratory insufficiency	ORPHA:93941
Distal Limb Deficiencies-Micrognathia Syndrome	Renal insufficiency, Proteinuria, Renal hypoplasia	ORPHA:1307
Dubowitz Syndrome	Hypospadias, Hypocholesterolemia	OMIM:223370
Williams Syndrome	Hypoplasia of penis, Elevated circulating creatine kinase concentration, Myocardial infarction, A...	ORPHA:904
Pure Mitochondrial Myopathy	Scapular winging, Recurrent myoglobinuria, Quadriceps muscle weakness, Rhabdomyolysis, Proximal a...	ORPHA:254854
Tbck-Related Intellectual Disability Syndrome	Skeletal muscle atrophy, Neurogenic bladder, Thick eyebrow, Eczema, Hypothermia, Diastasis recti,...	ORPHA:488632
Blau Syndrome	Pericarditis, Skin rash, Keratitis, Dyspnea, Splenomegaly, Retrobulbar optic neuritis, Erythema n...	ORPHA:90340
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Proteinuria, Chronic kidney disease, Proximal renal tubular acidosis, Thickened glomerular baseme...	OMIM:146255
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Respiratory failure requiring assisted ventilation, Patent ductus arteriosus, Peritonitis, Recurr...	OMIM:619351
Overhydrated Hereditary Stomatocytosis	Hepatomegaly, Pulmonary embolism, Splenomegaly, Jaundice, Prolonged neonatal jaundice	OMIM:185000
Martin-Probst Syndrome	Renal insufficiency, Pancytopenia, Proteinuria, Telangiectasia, Chordee, Hypoplastic nipples, Umb...	OMIM:300519
Aymé-Gripp Syndrome	Sparse scalp hair, Pericarditis, Inguinal hernia, Proteinuria, Congenital diaphragmatic hernia, P...	ORPHA:1272
Medullary Thyroid Carcinoma	Neoplasm of the lung, Weight loss, Abnormal liver parenchyma morphology	ORPHA:1332
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Recurrent bacterial infections	OMIM:241410
Rett Syndrome	Skeletal muscle atrophy, Apnea, Intermittent hyperventilation, Cachexia, Abnormal T-wave, Prolong...	OMIM:312750
Hypothyroidism Due To Tsh Receptor Mutations	Increased circulating thyroglobulin level, Hypothermia, Macroglossia, Bradycardia, Prolonged neon...	ORPHA:90673
Infantile Krabbe Disease	Respiratory distress, Abnormal circulating enzyme concentration or activity, Cachexia, Abnormal h...	ORPHA:206436
Congenital Total Pulmonary Venous Return Anomaly	Respiratory distress, Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venou...	ORPHA:99125
Tangier Disease	Hypertriglyceridemia, Hypocholesterolemia	ORPHA:31150
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Vesicoureteral reflux, Hyperglycemia, Hypospadias, Horseshoe kidney	ORPHA:444077
Smith-Lemli-Opitz Syndrome	Ureteropelvic junction obstruction, Hypospadias, Unilateral renal agenesis, Renal hypoplasia, Ren...	OMIM:270400
Severe Oculo-Renal-Cerebellar Syndrome	Glomerulopathy, Renal insufficiency, Proteinuria	ORPHA:2715
Dyschondrosteosis-Nephritis Syndrome	Hematuria, Nephropathy, Proteinuria	ORPHA:1765
Tropical Pancreatitis	Pancreatic adenocarcinoma, Jaundice, Weight loss, Chronic calcifying pancreatitis, Abnormal pancr...	ORPHA:103918
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Ketonuria, Hypospadias, Hypoglycemia, Hyperammonemia, Hyperglycemia	OMIM:220111
Cushing Syndrome Due To Ectopic Acth Secretion	Pancreatoblastoma, Myocardial infarction, Increased body weight, Recurrent cutaneous fungal infec...	ORPHA:99889
Tetrasomy 12P	Sparse hair, Sparse eyebrow, Cachexia	ORPHA:884
Bannayan-Riley-Ruvalcaba Syndrome	Skeletal muscle atrophy, Angina pectoris, Cachexia, Telangiectasia, Intracranial hemorrhage, Myop...	ORPHA:109
Igg4-Related Dacryoadenitis And Sialadenitis	Myositis, Increased circulating IgG4 level, Increased circulating IgA level, Retroperitoneal fibr...	ORPHA:79078
Familial Pancreatic Carcinoma	Elevated hepatic transaminase, Pancreatic adenocarcinoma, Jaundice, Extrahepatic cholestasis, Hep...	ORPHA:1333
Genetic Transient Congenital Hypothyroidism	Increased circulating thyroglobulin level, Hypothermia, Macroglossia, Prolonged neonatal jaundice...	ORPHA:226316
Johanson-Blizzard Syndrome	Hepatomegaly, Ventricular septal defect, Elevated circulating aspartate aminotransferase concentr...	OMIM:243800
Oromandibular Dystonia	Respiratory distress, Torticollis, Weight loss	ORPHA:93958
Juvenile Polyposis Of Infancy	Refractory anemia, Gastrointestinal hemorrhage, Subcutaneous lipoma, Cachexia, Patent ductus arte...	ORPHA:79076
Klatskin Tumor	Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Weight loss	ORPHA:99978
Alexander Disease	Facial palsy, Sudden cardiac death, Hypothermia, Respiratory insufficiency, Hypertension, Hypoten...	ORPHA:58
Von Hippel-Lindau Disease	Neoplasm of the pancreas, Pancreatic islet cell adenoma, Myocardial infarction, Pancreatic cysts,...	ORPHA:892
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy	Paroxysmal nocturnal hemoglobinuria, Limb muscle weakness, Hemolytic anemia, Skeletal muscle atrophy	OMIM:612300
Heart Defects, Congenital, And Other Congenital Anomalies	Ureteral duplication, Hyperglycemia, Diabetes mellitus, Glycosuria	OMIM:600001
Acquired Central Diabetes Insipidus	Pollakisuria, Weight loss	ORPHA:95626
Camurati-Engelmann Disease	Hepatomegaly, Skeletal muscle atrophy, Facial palsy, Cachexia, Splenomegaly, Abnormal subcutaneou...	ORPHA:1328
Pierson Syndrome	Diffuse mesangial sclerosis, Skeletal muscle atrophy, Proteinuria, Stage 5 chronic kidney disease...	OMIM:609049
Developmental And Epileptic Encephalopathy 78	Hypothermia	OMIM:618557
Pmm2-Cdg	Respiratory distress, Elevated hepatic transaminase, Pericarditis, Multiple joint contractures, P...	ORPHA:79318
Lynch Syndrome	Neoplasm of the pancreas, Gastrointestinal hemorrhage, Pancreatic adenocarcinoma, Flexion contrac...	ORPHA:144
African Trypanosomiasis	Urinary incontinence, Conjunctivitis, Iritis, Hepatomegaly, Alopecia, Abnormal EKG, Hepatosplenom...	ORPHA:3385
Tetrasomy 9P	Absent gallbladder, Pericarditis, Recurrent urinary tract infections, Myositis, Dextrocardia, Ray...	ORPHA:3310
Hutchinson-Gilford Progeria Syndrome	Myocardial infarction, Osteoarthritis, Intracranial hemorrhage, Dystrophic fingernails, Absent ey...	ORPHA:740
X-Linked Intellectual Disability, Cabezas Type	Inguinal hernia, Hypoplasia of penis, Camptodactyly of finger, Cachexia, Abnormal hair pattern, S...	ORPHA:85293
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Asthma, Dentinogenesis imperfecta, Obesity, Periodontitis, Moderate albuminuria, Hydronephrosis	OMIM:619269
Spondylometaphyseal Dysplasia, Sedaghatian Type	Myocarditis, Atrioventricular block, Cardiorespiratory arrest, Respiratory insufficiency, Arrhythmia	ORPHA:93317
Adult-Onset Autosomal Dominant Leukodystrophy	Recurrent urinary tract infections, Orthostatic hypotension, Hypothermia, Flexion contracture, Ur...	ORPHA:99027
Silver-Russell Syndrome	Decreased muscle mass, Failure to thrive in infancy, Hypospadias, Cachexia, Obesity, Abnormality ...	ORPHA:813
Glossopharyngeal Neuralgia	Syncope, Jaw claudication, Bradycardia, Weight loss	ORPHA:221098
Paroxysmal Nocturnal Hemoglobinuria 2	Dyspnea, Hemolytic anemia, Paroxysmal nocturnal hemoglobinuria	OMIM:615399
Malt Lymphoma	Recurrent respiratory infections, Posterior uveitis, Anemia, Weight loss	ORPHA:52417
Fanconi Anemia	Pyridoxine-responsive sideroblastic anemia, Renal insufficiency, Hydroureter, Hypospadias, Recurr...	ORPHA:84
Meckel Syndrome	Accessory spleen, Pancreatic fibrosis, Asplenia, Congenital hepatic fibrosis, Pancreatic cysts, S...	ORPHA:564
Pancreatic Triacylglycerol Lipase Deficiency	Weight loss, Iron deficiency anemia, Keratoconjunctivitis sicca, Colitis, Steatorrhea, Exocrine p...	ORPHA:309031
Craniorachischisis	Bifid sternum	ORPHA:63260
Dehydrated Hereditary Stomatocytosis	Portal vein thrombosis, Splenomegaly, Intermittent jaundice, Pulmonary venous hypertension, Incre...	ORPHA:3202
Choreoacanthocytosis	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	ORPHA:2388
Parkinson Disease 4, Autosomal Dominant	Orthostatic hypotension, Weight loss	OMIM:605543
Hughes-Stovin Syndrome	Pulmonary embolism, Dyspnea, Vasculitis, Cardiorespiratory arrest, Cough, Pulmonary arterial hype...	ORPHA:228116
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Elevated circulating deoxyuridine concentration, Cachexia, Ragged-red muscle fibers, Weight loss,...	OMIM:603041
Hereditary Late-Onset Parkinson Disease	Hypomimic face, Spastic/hyperactive bladder, Orthostatic hypotension due to autonomic dysfunction...	ORPHA:411602
Classic Homocystinuria	Gastrointestinal hemorrhage, Elevated hepatic transaminase, Hepatomegaly, Pulmonary embolism, Int...	ORPHA:394
Hereditary Sensory And Autonomic Neuropathy Type 4	Fasciitis, Osteomyelitis, Orthostatic hypotension due to autonomic dysfunction, Abscess, Hypother...	ORPHA:642
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease	Nephropathy, Proteinuria, Renal artery stenosis	OMIM:209010
Pancreatoblastoma	Jaundice, Pancreatic calcification, Elevated maternal serum alpha-fetoprotein, Weight loss	ORPHA:677
Oculogastrointestinal Muscular Dystrophy	Skeletal muscle atrophy, Myopathy, Cachexia	ORPHA:1876
Occipital Horn Syndrome	Recurrent urinary tract infections, Inguinal hernia, Femoral hernia, Scarring, Hypothermia, Hiatu...	ORPHA:198
Familial Chylomicronemia Syndrome	Acute pancreatitis, Pulmonary embolism, Perianal abscess, Jaundice, Hepatosplenomegaly, Recurrent...	ORPHA:444490
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Hypothermia, Overweight, Macroglossia, Bradycardia, Prolonged neonatal jaundice, Umbilical hernia...	ORPHA:226307
Multiple Endocrine Neoplasia Type 1	Neoplasm of the pancreas, Hypercalcemia, Hematemesis, Shortened QT interval, Insulinoma, Nephroli...	ORPHA:652
X-Linked Creatine Transporter Deficiency	Abnormal circulating creatine concentration, Cachexia	ORPHA:52503
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Proteinuria, Stage 5 chronic kidney disease	OMIM:219900
Trisomy 18	Omphalocele, Camptodactyly of finger, Abnormality of the upper urinary tract, Congenital diaphrag...	ORPHA:3380
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Episcleritis, Recurrent respiratory infections, Eczema, Keratitis, Cheilitis, Uveitis, Recurrent ...	ORPHA:2273
Microcephaly, Epilepsy, And Diabetes Syndrome 1	Elevated hepatic transaminase, Recurrent respiratory infections, Jaundice, Obesity, Moderate albu...	OMIM:614231
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Hypoventilation, Uterine prolapse, Apnea, Decreased serum iron, Breathing dysregulation, Hypother...	ORPHA:438213
Marfan Syndrome	Pulmonary artery dilatation, Skeletal muscle atrophy, Inguinal hernia, Arthralgia/arthritis, Spon...	ORPHA:558
Gerstmann-Straussler Disease	Lower limb muscle weakness, Weight loss	OMIM:137440
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To	Hemoglobinuria, Hemolytic anemia	OMIM:266120
Hypothyroidism, Congenital, Nongoitrous, 2	Increased circulating thyroglobulin level, Hypothermia, Stridor, Macroglossia, Bradycardia, Hyper...	OMIM:218700
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Skin rash, Cachexia	ORPHA:220295
Carney-Stratakis Syndrome	Gastrointestinal hemorrhage, Weight loss	ORPHA:97286
Tsh-Secreting Pituitary Adenoma	Abnormal hair quantity, Supraventricular arrhythmia, Congestive heart failure, Weight loss, Hyper...	ORPHA:91347
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Proteinuria, Cerebral hemorrhage, Hiatus hernia, Patent ductus arteriosus, Sparse hair	OMIM:616682
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Cachexia, Steatorrhea	ORPHA:3217
Stickler Syndrome	Recurrent respiratory infections, Skeletal muscle atrophy, Abnormal dental enamel morphology, Cac...	ORPHA:828
Proteus Syndrome	Thymus hyperplasia, Decreased muscle mass, Abnormal dental enamel morphology, Cachexia, Pulmonary...	ORPHA:744
Fryns-Smeets-Thiry Syndrome	Cachexia	ORPHA:2058
Agammaglobulinemia, X-Linked	Lymph node hypoplasia	OMIM:300755
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Small for gestational age, Weight loss	ORPHA:424
Spondylometaphyseal Dysplasia, Sedaghatian Type	Atrial septal defect, Myocarditis, Arrhythmia	OMIM:250220
Paroxysmal Nocturnal Hemoglobinuria 1	Paroxysmal nocturnal hemoglobinuria	OMIM:300818
Ehlers-Danlos Syndrome, Vascular Type	Pulmonary bulla, Recurrent intrapulmonary hemorrhage, Spontaneous pneumothorax, Repeated pneumoth...	OMIM:130050
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency	Gastrointestinal hemorrhage, Epidural hemorrhage, Prolonged bleeding after dental extraction, Epi...	ORPHA:465
Seckel Syndrome	Sparse scalp hair, Abnormal dental enamel morphology, Cachexia	ORPHA:808
Coffin-Lowry Syndrome	Hyperextensibility of the finger joints, Short metacarpal, Bifid sternum, Tapered finger, Coxa va...	OMIM:303600
Familial Gestational Hyperthyroidism	Weight loss	ORPHA:99819
Ayme-Gripp Syndrome	Pericarditis	OMIM:601088
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Skeletal muscle atrophy, Cachexia	ORPHA:1969
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Congenital hepatic fibrosis, Respiratory insufficiency	ORPHA:93271
Multiple Osteochondromas	Arthritis, Pneumothorax, Hemothorax	ORPHA:321
Norrie Disease	Failure to thrive, Cachexia	ORPHA:649
Plasminogen Activator Inhibitor-1 Deficiency	Abnormal bleeding, Menorrhagia	OMIM:613329

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Serpine1

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 Serpine1.

There are 2 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Interacting hepatic PAI-1/tPA gene regulatory pathways influence impaired fibrinolysis severity in obesity.	The Journal of clinical investigation (August 2020)	Serpine1^{tm1c(EUCOMM)Hmgu}	PMC7410057
Serpine 1 induces alveolar type II cell senescence through activating p53-p21-Rb pathway in fibrotic lung disease.	Aging cell (July 2017)	Serpine1^{tm1c(EUCOMM)Hmgu} Serpine1^{tm1a(EUCOMM)Hmgu}	PMC5595683

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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
Serpine1^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Serpine1^em1(IMPC)Tcp	Inter-exon deletion	Mice
Serpine1^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Serpine1 MGI:97608

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Eye Morphology

Eye Morphology

Gross Pathology and Tissue Collection

X-ray

X-ray

X-ray

X-ray

Human diseases caused by Serpine1 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data