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Gene: Csf2 MGI:1339752

Gene Summary

Name:

colony stimulating factor 2 (granulocyte-macrophage)

Synonyms:

Csfgm, MGI-IGM, GMCSF, Gm-CSf

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
No 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.

No results meet the p-value threshold

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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.

Legacy Phenotype Associated Images

Csf2^tm1(KOMP)Mbp
WT, Male, WTSI

View all 10 images

Human diseases caused by Csf2 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 Csf2 (0 diseases)
Human diseases predicted to be associated with Csf2 (1062 diseases)

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

The table below shows human diseases predicted to be associated to Csf2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu...	OMIM:240900
Obesity Due To Melanocortin 4 Receptor Deficiency	Hypertriglyceridemia, Increased adipose tissue, Hyperinsulinemia, Obesity, Polyphagia, Type II di...	ORPHA:71529
Coronary Artery Dissection, Spontaneous	Cystic medial necrosis, Coronary artery dissection	OMIM:122455
Maturity-Onset Diabetes Of The Young, Type 11	Overweight, Obesity, Maturity-onset diabetes of the young	OMIM:613375
Lipase Deficiency, Combined	Type II diabetes mellitus, Hypertriglyceridemia, Lipodystrophy, Pancreatitis	OMIM:246650
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Nonketotic hypoglycemia, Large for gestational age, Increased circulating free fatty acid level, ...	ORPHA:293964
Lipodystrophy, Familial Partial, Type 1	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Hypertriglyceride...	OMIM:608600
Coarctation Of Aorta	Coarctation of aorta	OMIM:120000
Obesity Due To Prohormone Convertase I Deficiency	Decreased response to growth hormone stimulation test, Increased adipose tissue, Pituitary hypoth...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Decreased response to growth hormone stimulation test, Increased adipose tissue, Pituitary hypoth...	ORPHA:71526
Pulmonary Nodular Lymphoid Hyperplasia	Nodular pattern on pulmonary HRCT, Follicular hyperplasia, Mediastinal lymphadenopathy, Autoimmun...	ORPHA:60026
Hyperinsulinemic Hypoglycemia, Familial, 1	Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Large fo...	OMIM:256450
Plin1-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer...	ORPHA:280356
Hyperinsulinemic Hypoglycemia, Familial, 2	Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia, Large for gestati...	OMIM:601820
Aortic Aneurysm, Familial Thoracic 7	Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture	OMIM:613780
Hyperinsulinemic Hypoglycemia, Familial, 5	Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy...	OMIM:609968
Lipodystrophy, Congenital Generalized, Type 3	Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Diabetes ...	OMIM:612526
Transient Neonatal Diabetes Mellitus	Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo...	ORPHA:99886
Hyperinsulinemic Hypoglycemia, Familial, 7	Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin...	OMIM:610021
Moyamoya Disease 5	Ascending tubular aorta aneurysm, Moyamoya phenomenon	OMIM:614042
Lipodystrophy, Familial Partial, Type 3	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Decreased HDL ...	OMIM:604367
Aortic Aneurysm, Familial Thoracic 8	Coronary artery dissection, Descending aortic dissection, Coronary artery aneurysm, Ascending aor...	OMIM:615436
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Recurrent respiratory infections, Death in infancy, Splenomegaly, Leukocytosis, Intraalveolar pho...	OMIM:618042
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Aggressive behavior, Hyperlipidemia, Hyperinsulinemia, Obesity, Hyperglycemia, Polyphagia	ORPHA:329249
Hyperinsulinemic Hypoglycemia, Familial, 3	Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:602485
Aortic Aneurysm, Familial Abdominal, 1	Abdominal aortic aneurysm	OMIM:100070
Short Stature Due To Primary Acid-Labile Subunit Deficiency	Truncal obesity, Insulin resistance, Delayed puberty, Decreased serum insulin-like growth factor 1	ORPHA:140941
Mandibuloacral Dysplasia	Loss of subcutaneous adipose tissue in limbs, Alopecia, Hypertriglyceridemia, Lipoatrophy, Increa...	ORPHA:2457
Glycogen Storage Disease Vi	Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, Hypoglycemia, Hyperlipidemia, H...	OMIM:232700
Akt2-Related Familial Partial Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l...	ORPHA:79085
Lipodystrophy, Familial Partial, Type 4	Hypertriglyceridemia, Lipoatrophy, Lipodystrophy, Insulin-resistant diabetes mellitus, Insulin re...	OMIM:613877
Cidec-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ...	ORPHA:435651
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To	Descending aortic dissection, Ascending aortic dissection, Aortic aneurysm	OMIM:617349
Lipodystrophy, Familial Partial, Type 5	Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l...	OMIM:615238
Hyperinsulinism Due To Hnf1A Deficiency	Hepatomegaly, Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Large for gesta...	ORPHA:324575
Lipe-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ...	ORPHA:435660
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Respira...	ORPHA:444463
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ...	OMIM:610921
Morbid Obesity And Spermatogenic Failure	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin resistance, Obesity, Incre...	OMIM:615703
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency	Elevated circulating thyroid-stimulating hormone concentration, Abnormal circulating insulin conc...	ORPHA:171706
Body Mass Index Quantitative Trait Locus 19	Hypertriglyceridemia, Hyperlipidemia, Insulin resistance, Hyperinsulinemia, Obesity, Increased se...	OMIM:617885
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hepatomegaly, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Decreased circu...	ORPHA:276575
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect...	OMIM:610913
Idiopathic Bronchiectasis	Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Bronchiect...	ORPHA:60033
Tn Polyagglutination Syndrome	Abnormal erythrocyte morphology, Autoimmunity	OMIM:300622
Hyperinsulinism Due To Ucp2 Deficiency	Hepatomegaly, Large for gestational age, Reactive hypoglycemia, Hypoglycemic seizures, Decreased ...	ORPHA:276556
Hyperinsulinism Due To Insr Deficiency	Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline...	ORPHA:263458
Autoimmune Disease	Autoimmune antibody positivity, Autoimmunity	OMIM:109100
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hepatomegaly, Maternal diabetes, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizur...	ORPHA:276580
Hyperproinsulinemia	Hyperglycemia, Hyperinsulinemia	OMIM:616214
Emphysema, Hereditary Pulmonary	Emphysema, Chronic bronchitis	OMIM:130700
Hyperinsulinemic Hypoglycemia, Familial, 4	Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:609975
Lipodystrophy, Familial Partial, Type 2	Decreased HDL cholesterol concentration, Adipose tissue loss, Increased intraabdominal fat, Hyper...	OMIM:151660
Proprotein Convertase 1/3 Deficiency	Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Obesi...	OMIM:600955
Pulmonary Alveolar Proteinosis, Acquired	Recurrent respiratory infections, Brain abscess, Lung abscess, Pneumonia, Dyspnea, Intraalveolar ...	OMIM:610910
Severe Neurodegenerative Syndrome With Lipodystrophy	Reduced subcutaneous adipose tissue, Hepatomegaly, Hyperactivity, Hypertriglyceridemia, Reduced i...	ORPHA:363400
Cortisone Reductase Deficiency 2	Insulin resistance, Obesity, Premature pubarche	OMIM:614662
Pemphigus Vulgaris, Familial	Autoimmune antibody positivity, Autoimmunity	OMIM:169610
Coronary Artery Disease, Autosomal Dominant 2	Hypertriglyceridemia, Impaired glucose tolerance, Increased LDL cholesterol concentration, Glucos...	OMIM:610947
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy	OMIM:619175
Mucus Inspissation Of Respiratory Tract	Recurrent respiratory infections, Atelectasis, Bronchiectasis	OMIM:253240
Aortic Aneurysm, Familial Thoracic 6	Thoracic aortic aneurysm, Descending aortic dissection, Premature coronary artery atherosclerosis...	OMIM:611788
Obesity Due To Congenital Leptin Deficiency	Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d...	ORPHA:66628
Immunodeficiency 51	Recurrent respiratory infections, Recurrent skin infections, Pneumonia, Eczema, Pustule, Chronic ...	OMIM:613953
Obesity And Hypopigmentation	Hyperinsulinemia, Obesity, Polyphagia, Overgrowth, Red hair, Hepatic steatosis	OMIM:620195
Insulin Autoimmune Syndrome	Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi...	ORPHA:411593
Body Mass Index Quantitative Trait Locus 20	Hyperinsulinemia, Obesity, Tall stature	OMIM:618406
Mody	Large for gestational age, Overweight, Transient neonatal diabetes mellitus, Insulin-resistant di...	ORPHA:552
Congenital Generalized Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Precocious puberty in females, Diabetes mellit...	ORPHA:528
T-Cell Immunodeficiency With Thymic Aplasia	Lymphopenia, Aplasia of the thymus, Recurrent viral infections, Recurrent bronchopulmonary infect...	OMIM:242700
Congenital Glucokinase-Related Hyperinsulinism	Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp...	ORPHA:79299
Obesity Due To Leptin Receptor Gene Deficiency	Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d...	ORPHA:179494
Surfactant Metabolism Dysfunction, Pulmonary, 1	Death in infancy, Neonatal respiratory distress, Apnea, Dyspnea, Desquamative interstitial pneumo...	OMIM:265120
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypertriglyceridemia, Hypoglycemia	ORPHA:366
Masp2 Deficiency	Recurrent pneumonia, Systemic lupus erythematosus	OMIM:613791
Alpha-1-Antitrypsin Deficiency	Hepatocellular carcinoma, Cough, Splenomegaly, Panacinar emphysema, Dyspnea, Chronic pulmonary ob...	OMIM:613490
Immunoglobulin A Deficiency 2	Recurrent sinopulmonary infections, Abnormal lymphocyte morphology, Autoimmunity	OMIM:609529
Hyperinsulinemic Hypoglycemia, Familial, 6	Abnormality of the pancreatic islet cells, Failure to thrive, Hypoglycemic seizures, Hyperinsulin...	OMIM:606762
Atherosclerosis Susceptibility	Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:108725
Asherman Syndrome	Metrorrhagia, Dysmenorrhea, Miscarriage, Abnormality of the menstrual cycle, Chronic infection, D...	ORPHA:137686
Hypertriglyceridemia 2	Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:619324
Bronchopulmonary Dysplasia	Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Atelecta...	ORPHA:70589
Whim Syndrome 1	Decreased circulating IgG level, Recurrent upper respiratory tract infections, Bronchiectasis, De...	OMIM:193670
Sarcoidosis, Susceptibility To, 2	Hepatomegaly, Erythema nodosum, Mediastinal lymphadenopathy, Splenomegaly, Pneumothorax, Dyspnea,...	OMIM:612387
Hypertriglyceridemia 1	Glucose intolerance, Hypopituitarism, Hypertriglyceridemia, Increased VLDL cholesterol concentration	OMIM:145750
Hypoplastic Left Heart Syndrome 1	Coarctation of aorta	OMIM:241550
Immunodeficiency, Common Variable, 5	Recurrent respiratory infections, Chronic decreased circulating total IgG, Recurrent bacterial in...	OMIM:613495
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive	Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Elbow flexion contractu...	OMIM:616516
Obesity Due To Sim1 Deficiency	Hyperinsulinemia, Obesity, Glucose intolerance, Attention deficit hyperactivity disorder, Increas...	ORPHA:369873
Glycosylphosphatidylinositol Biosynthesis Defect 17	Hypertriglyceridemia, Aggressive behavior, Overfriendliness	OMIM:618010
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ...	OMIM:615381
Coronary Artery Disease, Autosomal Dominant, 1	Diabetes mellitus, Obesity	OMIM:608320
Temple Syndrome	Hypertriglyceridemia, Small for gestational age, Maturity-onset diabetes of the young, Overweight...	OMIM:616222
Ciliary Dyskinesia, Primary, 29	Recurrent respiratory infections, Atelectasis, Bronchiectasis	OMIM:615872
Familial Partial Lipodystrophy, Dunnigan Type	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipoatrophy, Li...	ORPHA:2348
Neutropenia, Severe Congenital, 6, Autosomal Recessive	Recurrent respiratory infections, Short stature, Recurrent bacterial infections, Neutropenia, Rec...	OMIM:616022
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre...	OMIM:609734
Hypocomplementemic Urticarial Vasculitis	Episcleritis, Hepatomegaly, Skin rash, Splenomegaly, Dyspnea, Emphysema, Uveitis, Lymphadenopathy...	ORPHA:36412
Lipodystrophy, Familial Partial, Type 6	Diabetes mellitus, Lipodystrophy, Elevated circulating creatine kinase concentration, Hyperlipide...	OMIM:615980
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Abnormal circulating acylcarnitine concentration, Increased circulating free fatty acid level, Fa...	ORPHA:71212
Immunodeficiency 104	Hepatomegaly, Pneumonia, Eczema, Splenomegaly, Recurrent opportunistic infections, Chronic mucocu...	OMIM:608971
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Respiratory tract infection, Hypersensitivity pneumonitis, Nonproductive cough, Chronic pulmonary...	ORPHA:79127
Neutral Lipid Storage Disease With Myopathy	Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Elevated circulating creatine kinase conce...	OMIM:610717
Pparg-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipoatrophy, Di...	ORPHA:79083
Insulinomatosis And Diabetes Mellitus	Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ...	OMIM:147630
Hypertriglyceridemia, Transient Infantile	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis, Failure to thrive, Hepatic st...	OMIM:614480
Immunodeficiency, Common Variable, 2	Hepatomegaly, Impaired T cell function, Follicular hyperplasia, Splenomegaly, Recurrent pneumonia...	OMIM:240500
Immunodeficiency, Common Variable, 1	Hepatomegaly, Pneumonia, Impaired T cell function, Splenomegaly, Recurrent pneumonia, Bronchiecta...	OMIM:607594
Immunodeficiency With Hyper-Igm, Type 2	Recurrent respiratory infections, Impaired Ig class switch recombination, Lymphadenopathy, Recurr...	OMIM:605258
Obesity	Increased waist to hip ratio, Obesity, Decreased resting energy expenditure	OMIM:601665
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Primary gonadal insufficiency, Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Hepatic...	ORPHA:436182
Atrial Septal Defect 4	Coarctation of aorta	OMIM:611363
Fibromuscular Dysplasia, Arterial	Arterial fibromuscular dysplasia, Stroke, Aortic dissection	OMIM:135580
Netherton Syndrome	Recurrent respiratory infections, Short stature, Eczema, Skin rash, Asthma, Increased circulating...	ORPHA:634
Lipodystrophy, Congenital Generalized, Type 1	Reduced subcutaneous adipose tissue, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Lipo...	OMIM:608594
Leptin Deficiency Or Dysfunction	Decreased serum leptin, Obesity, Hypogonadism, Polyphagia, Decreased testicular size	OMIM:614962
Allergic Bronchopulmonary Aspergillosis	Abnormal eosinophil morphology, Asthma, Bronchiectasis, Respiratory insufficiency, Cough, Pulmona...	ORPHA:1164
Homozygous 11P15-P14 Deletion Syndrome	Failure to thrive, Hypoglycemia, Hyperinsulinemia	OMIM:606528
Griscelli Syndrome, Type 2	Hepatosplenomegaly, Recurrent bacterial infections, Hemophagocytosis, Death in childhood, Reduced...	OMIM:607624
Leptin Receptor Deficiency	Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati...	OMIM:614963
Caspase 8 Deficiency	Recurrent sinopulmonary infections, Recurrent herpes, Complete or near-complete absence of specif...	OMIM:607271
Familial Partial Lipodystrophy, Köbberling Type	Lipoatrophy, Insulin resistance, Diabetes mellitus, Hyperinsulinemia	ORPHA:79084
Interstitial Lung And Liver Disease	Hepatic steatosis, Hepatomegaly, Dyspnea, Intraalveolar phospholipid accumulation, Abnormal pulmo...	OMIM:615486
C1Q Deficiency 2	Anti-Sm antibody positivity, Rheumatoid factor positive, Antinuclear antibody positivity, Atelect...	OMIM:620321
Immunodeficiency With Hyper-Igm, Type 5	Impaired Ig class switch recombination, Epididymitis, Lymphadenopathy, Recurrent bacterial infect...	OMIM:608106
Maturity-Onset Diabetes Of The Young, Type 3	Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young	OMIM:600496
Lysinuric Protein Intolerance	Hepatomegaly, Decreased response to growth hormone stimulation test, Glomerulonephritis, Increase...	ORPHA:470
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Pancreatic islet-cell hyperplasia...	ORPHA:276608
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hepatomegaly, Hyperactivity, Hypertriglyceridemia	OMIM:615924
Fish-Eye Disease	Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri...	OMIM:136120
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Atelectasis, Recurrent bronchitis	OMIM:300455
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency	Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph...	ORPHA:217563
Aorto-Ventricular Tunnel	Aorto-ventricular tunnel, Aortic root aneurysm, Abnormal aortic morphology, Abnormal coronary art...	ORPHA:3400
Bare Lymphocyte Syndrome, Type I	Bronchiectasis, Bronchiolitis, Emphysema, Chronic sinusitis, Chronic otitis media, Recurrent bron...	OMIM:604571
Type 1 Diabetes Mellitus	Diabetes mellitus, Decreased level of 1,5 anhydroglucitol in serum, Hyperglycemia, Polydipsia, Po...	OMIM:222100
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	Recurrent bacterial infections, Decreased circulating IgG level, T lymphocytopenia, Recurrent can...	OMIM:242870
Acquired Generalized Lipodystrophy	Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Insu...	ORPHA:79086
Surfactant Metabolism Dysfunction, Pulmonary, 4	Reduced forced expiratory volume in one second, Reduced forced vital capacity, Tachypnea, Intraal...	OMIM:300770
Complement Component C1R/C1S Deficiency	Autoimmunity, Recurrent bronchitis	OMIM:216950
Immunodeficiency 89 And Autoimmunity	Pulmonary bulla, Elevated circulating C-reactive protein concentration, Increased circulating IgA...	OMIM:619632
Aortic Aneurysm, Familial Thoracic 4	Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebral artery stenosis, Th...	OMIM:132900
Lipodystrophy, Congenital Generalized, Type 2	Reduced subcutaneous adipose tissue, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Lipo...	OMIM:269700
Severe Combined Immunodeficiency, X-Linked	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Skin rash, Pneumonia, R...	OMIM:300400
46,Xx Gonadal Dysgenesis	Premature ovarian insufficiency, Short stature, Streak ovary, Increased circulating gonadotropin ...	ORPHA:243
Selective Igm Deficiency	Recurrent herpes, Fasciitis, Recurrent staphylococcal infections, Severe varicella zoster infecti...	ORPHA:331235
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Increased T cell count, Increased circulating IgG level, Inflammation of the large intestine, Inc...	ORPHA:98813
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased proportion of CD4-positive T cells, Recurrent respiratory infections, Persistent CMV vi...	OMIM:300853
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Decreased HDL cholesterol concentration, Premature graying of hair, Increased intraabdominal fat,...	ORPHA:280365
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Recurrent bacterial infections, Recurrent protozoan infections, Abnormality of T cell physiology,...	OMIM:308220
Immunodeficiency 48	Recurrent respiratory infections, Hepatomegaly, Pneumonia, Absence of CD8-positive T cells, Splen...	OMIM:269840
Ras-Associated Autoimmune Leukoproliferative Disorder	Recurrent respiratory infections, Pancytopenia, Hemolytic anemia, Autoimmunity, Autoimmune thromb...	OMIM:614470
Surfactant Metabolism Dysfunction, Pulmonary, 5	Dyspnea, Intraalveolar phospholipid accumulation, Respiratory insufficiency, Interlobular septal ...	OMIM:614370
Hyperlipoproteinemia, Type Ii, And Deafness	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:144300
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Recurrent herpes, Decreased proportion of naive T cells, Sepsis, Recurrent cutaneous fungal infec...	ORPHA:276
Autoimmune Pulmonary Alveolar Proteinosis	Abnormal circulating protein concentration, Crazy paving pattern, Crackles, Dyspnea, Intraalveola...	ORPHA:747
Immunodeficiency 61	Recurrent respiratory infections, Frequent Giardia lamblia infestation, Decreased circulating IgG...	OMIM:300310
Common Variable Immunodeficiency	Recurrent respiratory infections, Hemolytic anemia, Pneumonia, Autoimmune thrombocytopenia, Splen...	ORPHA:1572
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Death in infancy, Persistent CMV viremia, Autoimmun...	OMIM:617514
Agammaglobulinemia 2, Autosomal Recessive	Recurrent respiratory infections, Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulin...	OMIM:613500
Hypoglycemia, Leucine-Induced	Hypoglycemia, Hyperinsulinemic hypoglycemia	OMIM:240800
Lysinuric Protein Intolerance	Hepatomegaly, Short stature, Splenomegaly, Increased circulating ferritin concentration, Thromboc...	OMIM:222700
Insulinoma	Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin...	ORPHA:97279
Agammaglobulinemia 4, Autosomal Recessive	Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Recurrent bacterial infectio...	OMIM:613502
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Autoimmunity, Splenomegaly, Neutropenia in presence of anti-neutropi...	ORPHA:231154
Ciliary Dyskinesia, Primary, 33	Atelectasis, Recurrent pneumonia, Bronchiectasis, Recurrent lower respiratory tract infections, R...	OMIM:616726
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Recurrent sinopulmonary infections, Eczema, Eosinophilic infiltration of the esophagus, Recurrent...	OMIM:243700
Polyendocrine-Polyneuropathy Syndrome	Hypogonadotropic hypogonadism, Hypoglycemia, Anterior pituitary hypoplasia, Decreased circulating...	ORPHA:453533
Mannose-Binding Lectin Deficiency	Recurrent herpes, Recurrent skin infections, Disseminated cryptosporidium infection, Recurrent Kl...	OMIM:614372
Familial Aortic Dissection	Descending thoracic aorta aneurysm, Patent ductus arteriosus, Mucoid extracellular matrix accumul...	ORPHA:229
Agammaglobulinemia 3, Autosomal Recessive	Abnormal T cell morphology, Agammaglobulinemia, Recurrent bacterial infections, Absent isohemaggl...	OMIM:613501
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Recurrent respiratory infections, Decreased proportion of marginal zone B cells, Autoimmune throm...	OMIM:619375
Immunodeficiency, Common Variable, 3	Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Recurren...	OMIM:613493
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Osteomyelitis, Impaired Ig class switch recombination, Absence of ly...	OMIM:608184
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Recurrent bacterial infections, Neutropenia, Recurrent staphylococcal infections, Recurrent strep...	ORPHA:70592
Bardet-Biedl Syndrome 11	Hypogonadism, Obesity	OMIM:615988
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Chronic gastritis, Recurrent herpes, Liver abscess, Cholangitis, Bronchitis, Sepsis, Pulmonary tu...	ORPHA:183675
Immunodeficiency, Common Variable, 4	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:613494
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Short stature, Pneumoni...	OMIM:307200
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Small for gestational age, Elevated circulating creatine kinase concentration, Incr...	ORPHA:26793
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Failure to thrive, Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased...	OMIM:620085
Ciliary Dyskinesia, Primary, 21	Atelectasis, Recurrent pneumonia, Bronchiectasis	OMIM:615294
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Recurrent respiratory infections, Atelectasis, Bronchiectasis	OMIM:619466
Primary Ciliary Dyskinesia	Asplenia, Chronic otitis media, Abnormal sperm motility, Male infertility, Neonatal respiratory d...	ORPHA:244
Hypophosphatasia	Anemia, Emphysema, Short stature, Respiratory insufficiency	ORPHA:436
Meier-Gorlin Syndrome 6	Recurrent respiratory infections, Severe short stature, Decreased response to growth hormone stim...	OMIM:616835
Immunodeficiency By Defective Expression Of Mhc Class Ii	Recurrent herpes, Sinusitis, Recurrent viral infections, Abnormal CD4:CD8 ratio, Acute otitis med...	ORPHA:572
Thyroid Hormone Resistance, Generalized, Autosomal Recessive	Diabetes mellitus, Small for gestational age, Increased circulating free T4 concentration, Elevat...	OMIM:274300
Meier-Gorlin Syndrome 4	Short stature, Cryptorchidism, Birth length less than 3rd percentile, Intrauterine growth retarda...	OMIM:613804
Ciliary Dyskinesia, Primary, 9	Male infertility, Neonatal respiratory distress, Pneumonia, Bronchiectasis, Decreased nasal nitri...	OMIM:612444
Myelolymphatic Insufficiency	Recurrent bacterial infections, Hyposegmentation of neutrophil nuclei, Leukopenia, Recurrent vira...	OMIM:310350
Temple Syndrome	Small for gestational age, Decreased response to growth hormone stimulation test, Precocious pube...	ORPHA:254516
Ring Chromosome Y Syndrome	Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Short stature, Hypospadias, U...	ORPHA:261529
Activated Pi3K-Delta Syndrome	Hepatomegaly, Pneumonia, Severe varicella zoster infection, Splenomegaly, Recurrent tonsillitis, ...	ORPHA:397596
Triglyceride Storage Disease, Type Ii	Obesity	OMIM:190430
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification	Cirrhosis, Emphysema, Short stature, Portal hypertension	OMIM:210050
Agammaglobulinemia 6, Autosomal Recessive	Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Recurrent bacterial infectio...	OMIM:612692
Glycogen Storage Disease Ixa1	Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia	OMIM:306000
Spermatogenic Failure, X-Linked, 1	Obesity	OMIM:305700
Bloom Syndrome	Recurrent herpes, Bronchitis, Severe varicella zoster infection, Uveitis, Otitis media, Decreased...	ORPHA:125
Microlissencephaly	Subcortical heterotopia, Pneumonia, Periventricular heterotopia, Simplified gyral pattern, Lissen...	ORPHA:1083
Bardet-Biedl Syndrome 22	Polyphagia, Hypogonadism, Obesity, Large for gestational age	OMIM:617119
Birt-Hogg-Dubé Syndrome	Pneumothorax, Pulmonary sequestration, Parathyroid adenoma, Emphysema, Medullary thyroid carcinoma	ORPHA:122
Insulin-Resistance Syndrome Type B	Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Hypoalbuminemia, Fasting hy...	ORPHA:2298
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Portal hypertension, Cryptorchidism, Thrombocytopenia, Pulmonary fibrosis, Type I diabetes mellit...	OMIM:620365
Immunodeficiency 36 With Lymphoproliferation	Lymphopenia, Short stature, Persistent CMV viremia, Splenomegaly, Recurrent upper respiratory tra...	OMIM:616005
Smith-Magenis Syndrome	Hyperactivity, Hypertriglyceridemia, Abnormality of the thyroid gland, Synophrys, Self hugging, I...	OMIM:182290
T-Cell Immunodeficiency With Thymic Aplasia	Sinusitis, Decreased proportion of naive T cells, Sepsis, Recurrent candida infections, T lymphoc...	ORPHA:83471
Graves Disease, Susceptibility To, 1	Decreased thyroid-stimulating hormone level, Hyperactivity, Increased circulating free T4 concent...	OMIM:275000
Niemann-Pick Disease, Type B	Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Splenomegaly, Increa...	OMIM:607616
Alpha-1-Antitrypsin Deficiency	Hepatomegaly, Emphysema, Hepatitis, Jaundice	ORPHA:60
Immunodeficiency With Hyper-Igm, Type 1	Sepsis, Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Meningitis, Hemo...	OMIM:308230
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Atrophic gastritis, Pure red cell aplasia, Sepsis, Recurrent candida infections, Inflammation of ...	ORPHA:436159
Cholesteryl Ester Storage Disease	Hepatomegaly, Hypertriglyceridemia, Adrenal calcification, Splenomegaly, Jaundice, Cirrhosis, Hyp...	ORPHA:75234
Ciliary Dyskinesia, Primary, 41	Impaired nasal mucociliary clearance, Bronchiectasis, Infertility, Recurrent sinusitis, Immotile ...	OMIM:618449
De Barsy Syndrome	Recurrent sinopulmonary infections, Short stature, Postnatal growth retardation, Cryptorchidism, ...	ORPHA:2962
Hyperinsulinism-Hyperammonemia Syndrome	Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia	ORPHA:35878
Congenital Heart Defects, Multiple Types, 7	Aortopulmonary collateral arteries, Right aortic arch, Pulmonary artery atresia, Tetralogy of Fal...	OMIM:618780
Diabetes Mellitus, Permanent Neonatal, 2	Type I diabetes mellitus, Reduced C-peptide level, Hyperglycemia, Flexion contracture	OMIM:618856
Immunodeficiency 38 With Basal Ganglia Calcification	Recurrent mycobacterial infections, Lymphadenopathy	OMIM:616126
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Recurrent oral herpes, Autoimmune hemolytic anemia, Persistent CMV viremia, Fluctuating splenomeg...	OMIM:619220
Immunoglobulin A Deficiency 1	Recurrent respiratory infections, Autoimmunity	OMIM:137100
Ovarian Dysgenesis 9	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh...	OMIM:619665
Congenital Lobar Emphysema	Emphysema	ORPHA:1928
Congenital Disorder Of Glycosylation, Type Im	Alopecia, Sparse eyelashes, Increased circulating free fatty acid level, Sparse eyebrow, Failure ...	OMIM:610768
D-Glyceric Aciduria	Hyperglycinemia, Nonketotic hyperglycinemia, Increased circulating free fatty acid level	ORPHA:941
Young Syndrome	Recurrent sinopulmonary infections, Bronchiectasis, Azoospermia, Congenital pulmonary airway malf...	OMIM:279000
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased body weight...	OMIM:615954
Pigmented Nodular Adrenocortical Disease, Primary, 4	Alopecia, Adrenal hyperplasia, Dorsocervical fat pad, Diabetes mellitus, Increased body weight, I...	OMIM:615830
Lipodystrophy, Congenital Generalized, Type 4	Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentra...	OMIM:613327
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Generalized lymphadenopathy, Sepsis, Uveitis, Inflammation of the large intes...	OMIM:614700
Citrullinemia Type Ii	Hypoproteinemia, Hepatomegaly, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hyp...	ORPHA:247585
Abdominal Obesity-Metabolic Syndrome 3	Hypertriglyceridemia, Increased LDL cholesterol concentration, Truncal obesity, Abdominal obesity...	OMIM:615812
Hypercholesterolemia, Familial, 4	Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration	OMIM:603813
Nocardiosis	Respiratory distress, Liver abscess, Lymphadenitis, Nonproductive cough, Sepsis, Conjunctivitis, ...	ORPHA:31204
Specific Granule Deficiency 1	Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ...	OMIM:245480
14Q11.2 Microduplication Syndrome	Highly arched eyebrow, Aggressive behavior, Polyphagia, Obesity, Attention deficit hyperactivity ...	ORPHA:261229
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Recurrent viral infections, Severe varicella zoster infection, T lymphocytopenia, Hypothyroidism,...	OMIM:606367
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,...	ORPHA:168563
Cutis Laxa, Autosomal Recessive, Type Ic	Accessory spleen, Death in infancy, Adrenal hypoplasia, Atelectasis, Recurrent pneumonia, Growth ...	OMIM:613177
Mirage Syndrome	Recurrent urinary tract infections, Short stature, Hypospadias, Adrenal hypoplasia, Hypergonadotr...	OMIM:617053
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Splenomegaly, Panniculitis, Increased circulating ferritin concentration, Hypertriglyceridemia	OMIM:618398
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Pneumocystis jirovecii pneumonia, Pneumonia, Recurrent upper respiratory tract infections, Recurr...	OMIM:614069
Hypothyroidism, Central, With Testicular Enlargement	Inappropriately normal thyroid-stimulating hormone level, Reduced circulating prolactin concentra...	OMIM:300888
Immunodeficiency 34	Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis	OMIM:300645
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1	Diabetes mellitus, Dorsocervical fat pad, Delayed thelarche, Delayed puberty, Hyperinsulinemic hy...	OMIM:616033
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Lymphopenia, Recurrent herpes, Pneumonia, Eosinophilia, Recurrent pneumonia, Hepatitis, Recurrent...	ORPHA:169160
Abdominal Obesity-Metabolic Syndrome 4	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated hemoglobin A1c, Obesity, ...	OMIM:618620
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Achilles...	ORPHA:98855
Isolated Agammaglobulinemia	Recurrent respiratory infections, Recurrent cutaneous abscess formation, Sinusitis, Short stature...	ORPHA:229717
Ovarian Dysgenesis 2	Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Secondary amenorrh...	OMIM:300510
Complement Component 7 Deficiency	Recurrent Neisserial infections, Recurrent meningococcal disease	OMIM:610102
Immunodeficiency With Hyper-Igm, Type 3	Impaired Ig class switch recombination, Absence of lymph node germinal center, Impaired memory B ...	OMIM:606843
Roifman Syndrome	Short stature, Hypogonadotropic hypogonadism, Eczema, Eosinophilia, Postnatal growth retardation,...	ORPHA:353298
Ciliary Dyskinesia, Primary, 25	Recurrent respiratory infections, Neonatal respiratory distress, Productive cough, Recurrent pneu...	OMIM:615482
Hypogonadotropic Hypogonadism 27 Without Anosmia	Reduced response to gonadotropin-releasing hormone stimulation test, Obesity, Absence of pubertal...	OMIM:619755
Autosomal Dominant Coarctation Of Aorta	Aortic arch aneurysm, Patent ductus arteriosus, Abnormal aortic arch morphology	ORPHA:1455
Immunodeficiency 32B	Recurrent respiratory infections, Hepatomegaly, Sinusitis, Neutrophilia, Pneumonia, Eosinophilia,...	OMIM:226990
Obesity, Hyperphagia, And Developmental Delay	Abnormal repetitive mannerisms, Polyphagia, Obesity	OMIM:613886
Cutis Laxa-Marfanoid Syndrome	Emphysema	ORPHA:171719
Blue Diaper Syndrome	Elevated circulating thyroid-stimulating hormone concentration, Increased body weight, Increased ...	ORPHA:94086
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Recurrent respiratory infections, Recurrent sinopulmonary infections, Recurrent ear infections, S...	OMIM:615513
Bdv Syndrome	Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Hyperinsulinemia, Obe...	OMIM:619326
Schaaf-Yang Syndrome	Failure to thrive in infancy, Impulsivity, Cryptorchidism, Flexion contracture, Obesity, Hypogona...	OMIM:615547
Cutis Laxa, Neonatal, With Marfanoid Phenotype	Emphysema	OMIM:614100
Pgm3-Cdg	Recurrent viral infections, Abnormal CD4:CD8 ratio, Sepsis, Increased circulating IgG level, Leuk...	ORPHA:443811
Combined Immunodeficiency Due To Dock8 Deficiency	Recurrent respiratory infections, Recurrent bacterial skin infections, Pneumonia, Recurrent viral...	ORPHA:217390
Immunodeficiency 110 With Lymphoproliferation	Autoimmune hemolytic anemia, Recurrent skin infections, Recurrent viral infections, Recurrent upp...	OMIM:614868
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Small for gestational age, Hypoglycemia, Precocious puberty, Insulin-resistant diabetes mellitus,...	OMIM:262190
Combined Immunodeficiency, X-Linked	Sinusitis, Pneumonia, Decreased proportion of CD8-positive T cells, Otitis media, Decreased propo...	OMIM:312863
Leukocyte Adhesion Deficiency	Sinusitis, Severe periodontitis, Recurrent staphylococcal infections, BCGosis, Sepsis, Conjunctiv...	ORPHA:2968
Hyperinsulinemic Hypoglycemia, Familial, 8	Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H...	OMIM:620211
Immunodeficiency 35	Recurrent respiratory infections, Recurrent viral infections, Recurrent mycobacterial infections,...	OMIM:611521
Huntington Disease	Oral-pharyngeal dysphagia, Aggressive behavior, Weight loss, Abnormal circulating cholesterol con...	ORPHA:399
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Micropenis, Hypoplasia of the ...	OMIM:614841
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome	Pachygyria, Polymicrogyria, Aspiration pneumonia, Death in childhood	OMIM:609528
Tularemia	Respiratory distress, Brain abscess, Skin rash, Pneumonia, Erythema nodosum, Mediastinal lymphade...	ORPHA:3392
Prader-Willi Syndrome Due To Imprinting Mutation	Polyphagia, Hypopigmentation of hair, Hypogonadotropic hypogonadism, Obesity	ORPHA:177910
Complement Component 3 Deficiency, Autosomal Recessive	Recurrent bacterial infections, Recurrent pneumonia, Membranoproliferative glomerulonephritis, Re...	OMIM:613779
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hypertriglyceridemia, Hepatosplenomegaly	OMIM:608898
Combined Immunodeficiency Due To Zap70 Deficiency	Recurrent viral infections, Lymphadenitis, Colitis, Lymphocytosis, Autoimmune thrombocytopenia, H...	ORPHA:911
Cd8 Deficiency, Familial	Recurrent respiratory infections, Recurrent viral infections, Absence of CD8-positive T cells, Br...	OMIM:608957
Congenital Disorder Of Glycosylation, Type Iic	Neutrophilia, Short stature, Pneumonia, Recurrent otitis media, Periodontitis, Reduction of neutr...	OMIM:266265
Ficolin 3 Deficiency	Recurrent Staphylococcus aureus infections, Recurrent lower respiratory tract infections, Recurre...	OMIM:613860
Sarcoidosis, Susceptibility To, 1	Generalized lymphadenopathy, Uveitis, Inflammation of the large intestine, Cough, Emphysema, Abno...	OMIM:181000
X-Linked Emery-Dreifuss Muscular Dystrophy	Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Achilles...	ORPHA:98863
Emery-Dreifuss Muscular Dystrophy	Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Achilles...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Achilles...	ORPHA:98853
Ciliary Dyskinesia, Primary, 36, X-Linked	Male infertility, Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis...	OMIM:300991
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Increased circulating ferritin concen...	OMIM:603552
Adiposis Dolorosa	Obesity, Painful subcutaneous lipomas	OMIM:103200
Ovarian Dysgenesis 10	Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr...	OMIM:619834
Immunodeficiency 12	Short stature, Skin rash, Abnormal lymphocyte count, Recurrent viral infections, Bronchiectasis, ...	OMIM:615468
Mandibuloacral Dysplasia With Type B Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Alopecia, Decreased adipose tissue around neck, Bri...	OMIM:608612
Purine Nucleoside Phosphorylase Deficiency	Recurrent urinary tract infections, Sinusitis, Autoimmune hemolytic anemia, Pneumonia, Impaired T...	OMIM:613179
Cardiac Septal Defects With Coarctation Of The Aorta	Coarctation of aorta	OMIM:212090
Complement Factor D Deficiency	Recurrent bacterial infections	OMIM:613912
Immunodeficiency 30	Recurrent mycobacterial infections, Recurrent infections	OMIM:614891
Ciliary Dyskinesia, Primary, 14	Male infertility, Recurrent respiratory infections, Neonatal respiratory distress, Rhinorrhea, Co...	OMIM:613807
Complement Component 8 Deficiency, Type Ii	Recurrent Neisserial infections, Meningitis	OMIM:613789
Immunodeficiency 102	Severe varicella zoster infection, Sepsis, Leukopenia, Decreased circulating IgG level, Hypothyro...	OMIM:301082
Glycogen Storage Disease Ixc	Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Bile duct proliferation, Cirrhosi...	OMIM:613027
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Pneumonia, Purulent rhinitis, Recurrent opportunistic infections, Arthritis, Panhypogammaglobulin...	OMIM:601457
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Skin rash, Recurrent viral infections, Recurrent mycobacterial infections, Recurrent opportunisti...	ORPHA:275
Muscular Hypertonia, Lethal	Respiratory distress, Umbilical hernia, Pneumonia, Death in infancy	OMIM:254120
Immunodeficiency, Common Variable, 6	Recurrent respiratory infections, Hepatomegaly, Glomerulonephritis, Autoimmune thrombocytopenia, ...	OMIM:613496
Intellectual Developmental Disorder, Autosomal Dominant 39	Self-mutilation, Polyphagia, Obesity, Aggressive behavior	OMIM:616521
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Elevated circulating growth hormone concentration, Large for gestational age, Neonatal hypoglycem...	ORPHA:79644
Lymphangioleiomyomatosis	Recurrent respiratory infections, Atelectasis, Dyspnea, Pneumothorax, Abnormality of the lymphati...	ORPHA:538
Ellis Van Creveld Syndrome	Hypospadias, Epispadias, Cryptorchidism, Abnormal morphology of female internal genitalia, Acute ...	ORPHA:289
Epidermodysplasia Verruciformis, Susceptibility To, 4	Stomatitis, Emphysema, Increased proportion of exhausted T cells	OMIM:618307
Bare Lymphocyte Syndrome, Type Ii	Viral hepatitis, Chronic lymphocytic meningitis, Recurrent urinary tract infections, Cholangitis,...	OMIM:209920
Immunodeficiency 11B With Atopic Dermatitis	Pneumonia, Eosinophilia, Asthma, Increased circulating IgE level, Bronchiectasis, Atopic dermatit...	OMIM:617638
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Short stature, Postnatal growth retardation, Lissencephaly, Abnormal circulating apolipoprotein c...	ORPHA:357074
Cernunnos-Xlf Deficiency	Recurrent viral infections, Thrombocytopenia, Decreased circulating antibody level, Growth delay,...	ORPHA:169079
Whim Syndrome	Sinusitis, Severe periodontitis, Pneumonia, Respiratory tract infection, Atelectasis, Lymphadenit...	ORPHA:51636
Proteasome-Associated Autoinflammatory Syndrome 3	Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Splenomegaly, Flexion contracture, Panniculiti...	OMIM:617591
Ciliary Dyskinesia, Primary, 11	Recurrent respiratory infections, Neonatal respiratory distress, Short stature, Bronchiectasis, D...	OMIM:612649
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Hyperactivity, Hypopigmentation of hair, Obesity, Inappropriate laughter, Polyphagia	ORPHA:411515
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal T cell count, Recurrent viral infections, Lymphadenitis, Decreased proportion of CD3-pos...	ORPHA:331206
Premature Ovarian Failure 18	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr...	OMIM:619203
Lecithin:Cholesterol Acyltransferase Deficiency	Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:245900
Ciliary Dyskinesia, Primary, 26	Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ...	OMIM:615500
Citrullinemia, Type Ii, Adult-Onset	Hypertriglyceridemia, Portal inflammation, Hyperammonemia, Ballooning hepatocyte degeneration, He...	OMIM:603471
Neonatal Alloimmune Neutropenia	Miscarriage, Pneumonia, Maternal diabetes, Severe infection, Jaundice, Sepsis, Neutropenia in pre...	ORPHA:464370
Ciliary Dyskinesia, Primary, 46	Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent pneumoni...	OMIM:619436
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi...	ORPHA:90793
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Recurrent sinopulmonary infections, Recurrent skin infections, Pneumonia,...	ORPHA:486
Complete Androgen Insensitivity Syndrome	Male infertility, Acne, Abnormal uterine cervix morphology, Elevated circulating luteinizing horm...	ORPHA:99429
Bardet-Biedl Syndrome 9	Obesity, Truncal obesity, Hyperglycemia, Polydipsia, Polyphagia	OMIM:615986
Meier-Gorlin Syndrome 1	Respiratory distress, Death in infancy, Cryptorchidism, Hypoplastic labia minora, Micropenis, Bir...	OMIM:224690
Hypotonia-Cystinuria Syndrome	Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Long eyela...	OMIM:606407
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Sinusitis, Severe B lymphocytopenia, Recurrent viral infections, Hepatomegaly, Autoimmune thrombo...	OMIM:102700
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased urinary cortisol level, Alopecia, Dorsocervical fat pad, Paradoxical increased cortisol...	ORPHA:189427
Specific Granule Deficiency 2	Absent neutrophil specific granules, Death in infancy, Thrombocytopenia, Recurrent pneumonia, Sep...	OMIM:617475
Scedosporiosis	Sinusitis, Bronchitis, Sepsis, Pulmonary tuberculosis, Cough, Unusual skin infection, Fungal meni...	ORPHA:449280
Immunodeficiency 27A	Increased inflammatory response, Abnormal bronchus physiology, Pneumonia, Splenomegaly, Leukocyto...	OMIM:209950
Familial Hyperprolactinemia	Hemorrhagic ovarian cyst, Female hypogonadism, Menorrhagia, Infertility, Oligomenorrhea, Amenorrhea	ORPHA:397685
Perrault Syndrome 4	Premature ovarian insufficiency, Increased circulating gonadotropin level, Secondary amenorrhea, ...	OMIM:615300
Cholesteryl Ester Storage Disease	Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Failure to thrive, A...	OMIM:278000
Congenital Tracheomalacia	Apnea, Tracheobronchomalacia, Cough, Emphysema, Neonatal respiratory distress, Intercostal retrac...	ORPHA:95430
Retinitis Pigmentosa	Hyperinsulinemia, Obesity, Atypical scarring of skin, Hypogonadism, Type II diabetes mellitus	ORPHA:791
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome	Cryptorchidism, Aplasia/Hypoplasia of the testes, Hernia of the abdominal wall, Obesity	ORPHA:3055
Fanconi Renotubular Syndrome 5	Decreased DLCO, Emphysema, Pulmonary fibrosis, Lung adenocarcinoma	OMIM:618913
Maturity-Onset Diabetes Of The Young, Type 10	Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young	OMIM:613370
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H...	OMIM:300635
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Herpes simplex encephalitis, Increased circulating IgE level, Bronchiectasis, Recurrent infection...	OMIM:618982
Dysbetalipoproteinemia	Hepatomegaly, Acute pancreatitis, Decreased HDL cholesterol concentration, Hypertriglyceridemia, ...	ORPHA:412
Fanconi-Bickel Syndrome	Hepatomegaly, Failure to thrive, Hypertriglyceridemia, Diabetes mellitus, Impaired glucose tolera...	ORPHA:2088
Normosmic Congenital Hypogonadotropic Hypogonadism	Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Female hypogonadism, N...	ORPHA:432
Perrault Syndrome 6	Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Secondary amenorrhea, Prim...	OMIM:617565
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Recurrent respiratory infections, Autoimmune hemolytic anemia, Lymphocytic interstitial pneumonia...	OMIM:618495
Bardet-Biedl Syndrome 10	Hypogonadism, Obesity	OMIM:615987
Perrault Syndrome 3	Streak ovary, Short stature, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hor...	OMIM:614129
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Autoimmunity, Absence of lymph node germinal center, Anti-thyroid peroxidase antibody positivity,...	ORPHA:277
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma	Interrupted aortic arch, Coarctation of aorta	OMIM:107550
Ciliary Dyskinesia, Primary, 24	Neonatal respiratory distress, Chronic pulmonary obstruction, Bronchiectasis, Decreased nasal nit...	OMIM:615481
Eosinophilopenia	Decreased eosinophil count, Autoimmunity	OMIM:131430
Donohue Syndrome	Precocious puberty, Adipose tissue loss, Hyperinsulinemia, Cholestasis, Ovarian cyst, Hepatic fib...	OMIM:246200
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Autoimmune hemolytic anemia, Ge...	OMIM:615559
Premature Ovarian Failure 5	Streak ovary, Premature ovarian insufficiency, Primary amenorrhea, Secondary amenorrhea, Hypoplas...	OMIM:611548
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe	Right aortic arch, Coarctation of aorta	OMIM:140850
Aspergillosis	Sinusitis, Cough, Neutropenia, Meningitis, Infectious encephalitis, Chronic pulmonary obstruction...	ORPHA:1163
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
X-Linked Acrogigantism	Enlarged pituitary gland, Increased body mass index, Tall stature, Decreased thyroid-stimulating ...	ORPHA:300373
Premature Ovarian Failure 6	Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Fe...	OMIM:612310
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Acute myeloid leukemia, Refractory anemia, Systemic lupus erythematosus, Leukopenia, Monocytosis,...	OMIM:616871
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Hyperlipidemia, Biliary tract abnormal...	ORPHA:1414
Citrullinemia, Type Ii, Neonatal-Onset	Hypertyrosinemia, Decreased HDL cholesterol concentration, Failure to thrive, Hypertriglyceridemi...	OMIM:605814
Mandibuloacral Dysplasia With Type A Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hepatomegaly, ...	OMIM:248370
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Generalized lymphadenopathy, Severe varicella zoster infection, Lymphadenitis, Sepsis, Leukopenia...	OMIM:618986
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Skin rash, Neutrophilic infiltration of the skin, Elevated circulating C...	OMIM:618048
Respiratory Distress Syndrome In Premature Infants	Atelectasis, Pulmonary edema	OMIM:267450
Rajab Interstitial Lung Disease With Brain Calcifications 1	Recurrent urinary tract infections, Small scrotum, Short stature, Pancytopenia, Portal hypertensi...	OMIM:613658
Ciliary Dyskinesia, Primary, 12	Recurrent respiratory infections, Neonatal respiratory distress, Short stature, Chronic pulmonary...	OMIM:612650
Alstrom Syndrome	Hepatomegaly, Decreased HDL cholesterol concentration, Chronic active hepatitis, Hypertriglycerid...	OMIM:203800
Immunodeficiency 28	Recurrent mycobacterial infections	OMIM:614889
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
6Q16 Microdeletion Syndrome	Abnormal temper tantrums, Polyphagia, Obesity, Thick eyebrow	ORPHA:171829
Agammaglobulinemia, X-Linked	Sepsis, T lymphocytopenia, Conjunctivitis, Decreased circulating IgE, Neutropenia, Decreased circ...	OMIM:300755
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Pneumonia, Eosinophilia, Genita...	OMIM:602450
Granulomatous Disease, Chronic, X-Linked	Liver abscess, Lymphadenitis, Granulomatosis, Cough, Hepatomegaly, Atelectasis, Recurrent E. coli...	OMIM:306400
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Bronchiectasis, Persistent EBV viremia, ...	OMIM:620282
Pick Disease Of Brain	Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition	OMIM:172700
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Elevated circulating creatine kinase concentrat...	ORPHA:264580
Tricuspid Atresia	Pulmonary artery atresia, Persistent left superior vena cava, Transposition of the great arteries...	ORPHA:1209
Staphylococcal Necrotizing Pneumonia	Respiratory distress, Elevated circulating C-reactive protein concentration, Nonproductive cough,...	ORPHA:36238
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	Pneumonia, Recurrent upper respiratory tract infections, Atopic dermatitis, T lymphocytopenia, Ab...	OMIM:618806
Satoyoshi Syndrome	Short stature, Nephrogenic diabetes insipidus, Hypoplasia of the uterus, Hypoplasia of the ovary,...	ORPHA:3130
Hemochromatosis, Type 2A	Hepatomegaly, Hypogonadotropic hypogonadism, Increased circulating ferritin concentration, Spleno...	OMIM:602390
Ciliary Dyskinesia, Primary, 15	Recurrent respiratory infections, Neonatal respiratory distress, Cough, Wheezing, Recurrent pneum...	OMIM:613808
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Hypergonadotropic hypogonadism, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Keloids	ORPHA:3085
Immunodeficiency 62	Recurrent herpes, Autoimmune thrombocytopenia, Severe recurrent varicella, Decreased proportion o...	OMIM:618459
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Hepatomegaly, Failure to thrive, Hypoglycemia, Hyperlipidemia, Portal fibrosis, Hepatic fibrosis,...	ORPHA:369
Bardet-Biedl Syndrome 2	Diabetes mellitus, Hypogonadism, Obesity	OMIM:615981
46,Xy Partial Gonadal Dysgenesis	Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro...	ORPHA:251510
Familial Nasal Acilia	Atelectasis, Recurrent upper respiratory tract infections, Bronchiectasis	ORPHA:922
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Hepatomegaly, Large for gestational age, Abnormal circulating fatty-acid concentration, Hyperinsu...	ORPHA:263455
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a...	ORPHA:98793
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Sepsis, Leukopenia, Hypoplasia of the thymus, Otitis media, Neutropenia, Hepatomegaly, Perianal a...	OMIM:612541
Hypothyroidism, Congenital, Nongoitrous, 6	Omphalocele, Increased body mass index, Increased T3/T4 ratio, Increased body weight, Congenital ...	OMIM:614450
Immunodeficiency 54	Recurrent respiratory infections, Hepatomegaly, Short stature, Recurrent viral infections, Postna...	OMIM:609981
Diabetes Mellitus, Transient Neonatal, 1	Severe failure to thrive, Transient neonatal diabetes mellitus, Hyperglycemia	OMIM:601410
Ciliary Dyskinesia, Primary, 32	Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, B...	OMIM:616481
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Ketotic h...	ORPHA:79240
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a...	ORPHA:177904
Gray Platelet Syndrome	Splenomegaly, Epistaxis, Thrombocytopenia, Abnormality of the menstrual cycle	ORPHA:721
Systemic Lupus Erythematosus	Hemolytic anemia, Antiphospholipid antibody positivity, Antinuclear antibody positivity, Systemic...	OMIM:152700
Immunodeficiency 7	Recurrent respiratory infections, Autoimmune hemolytic anemia, Autoimmunity, Splenomegaly, Hypere...	OMIM:615387
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a...	ORPHA:98754
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Recurrent sinopulmonary infections, Skin rash, Eosinophilia, Recurrent pneumonia, Increased circu...	OMIM:147060
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Splenomegaly, Hypertriglyceridemia, Increased circulating ferritin concentration, Hepatosplenomegaly	OMIM:613101
Lipodystrophy, Familial Partial, Type 7	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Sparse scalp h...	OMIM:606721
46,Xy Sex Reversal 11	Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Absence of pubertal ...	OMIM:273250
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a...	ORPHA:177901
Cholesterol-Ester Transfer Protein Deficiency	Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi...	ORPHA:79506
Papular Xanthoma	Hyperlipidemia	ORPHA:158008
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hypertriglyceridemia, Hypothyroidism, Hepatosplenomegaly, Hypoalbuminemia, Hypopituitarism, Hepat...	OMIM:619013
Congenital Analbuminemia	Lipodystrophy, Small for gestational age, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypo...	ORPHA:86816
Premature Ovarian Failure 10	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh...	OMIM:612885
Familial Cerebral Saccular Aneurysm	Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh...	ORPHA:231160
2Q23.1 Microdeletion Syndrome	Hyperactivity, Highly arched eyebrow, Cryptorchidism, Synophrys, Paroxysmal bursts of laughter, P...	ORPHA:228402
Premature Ovarian Failure 8	Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr...	OMIM:615723
Myotubular Myopathy With Abnormal Genital Development	Bifid scrotum, Respiratory distress, Death in infancy, Hypospadias, Unilateral cryptorchidism, Bi...	OMIM:300219
Conotruncal Heart Malformations	Truncus arteriosus, Transposition of the great arteries, Double outlet right ventricle, Coarctati...	OMIM:217095
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Respiratory distress, Decreased response to growth hormone stimulation test, Crackles, Elevated c...	OMIM:610978
Immunodeficiency 84	Perianal abscess, Splenomegaly, Persistent EBV viremia, Recurrent bacterial infections, B lymphoc...	OMIM:619437
Cutis Laxa, Autosomal Recessive, Type Ia	Recurrent respiratory infections, Emphysema, Umbilical hernia	OMIM:219100
Adult Idiopathic Neutropenia	Helicobacter pylori infection, Abnormal neutrophil count, Recurrent infections, Recurrent bacteri...	ORPHA:2688
Ciliary Dyskinesia, Primary, 1	Male infertility, Pneumonia, Asplenia, Atelectasis, Bronchiectasis, Immotile cilia, Chronic rhini...	OMIM:244400
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Autoimmune hemolytic anemia, Glomerulonephritis, Pneumonia, Plasmacytosis, Increased circulating ...	OMIM:247800
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hypertriglyceridemia, Hepatitis, Cholestasis, Obesity, Increased LDL cholesterol concentration, A...	ORPHA:209902
Tangier Disease	Decreased circulating apolipoprotein A-I concentration, Hepatomegaly, Decreased HDL cholesterol c...	OMIM:205400
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Recurrent bacterial infection...	OMIM:202700
Familial Multiple Lipomatosis	Lipodystrophy, Increased adipose tissue, Insulin resistance, Hyperlipidemia, Overgrowth	ORPHA:199276
Familial Chylomicronemia Syndrome	Acute pancreatitis, Hypertriglyceridemia, Diabetes mellitus, Jaundice, Hyperlipidemia, Hepatosple...	ORPHA:444490
Ehlers-Danlos Syndrome, Vascular Type	Pulmonary bulla, Recurrent intrapulmonary hemorrhage, Spontaneous pneumothorax, Repeated pneumoth...	OMIM:130050
Chromosome Xq26.3 Duplication Syndrome	Tall stature, Elevated circulating growth hormone concentration, Pituitary adenoma, Increased cir...	OMIM:300942
Isolated Congenital Hypoglossia/Aglossia	Respiratory distress, Dyspnea, Upper airway obstruction, Aspiration pneumonia	ORPHA:141152
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Bronchiolitis, Atelectasis, Anti-acetylcholine receptor antibody positivity, Pulmonary fibrosis	ORPHA:254361
Hypogonadotropic Hypogonadism 25 With Anosmia	Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism, Primary amenorrhea, Micro...	OMIM:618841
Smith-Magenis Syndrome	Hypertriglyceridemia, Failure to thrive in infancy, Precocious puberty, Abnormal repetitive manne...	ORPHA:819
Idiopathic Achalasia	Bronchitis, Wheezing, Cough, Decreased prealbumin level, Recurrent aspiration pneumonia	ORPHA:930
Acute Interstitial Pneumonia	Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Atelectasis, Bron...	ORPHA:79126
H Syndrome	Abnormal eyebrow morphology, Alopecia, Hypertriglyceridemia, Lipodystrophy, Diabetes mellitus, De...	ORPHA:168569
Leydig Cell Hypoplasia	Hypoplasia of the Leydig cells, Male hypogonadism, Micropenis, Abnormal internal genitalia, Hypos...	ORPHA:755
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Hypothalamic gonadotropin-releasing hormone deficiency, Short stature, Hypogonadotropic hypogonad...	ORPHA:2235
Cebalid Syndrome	Highly arched eyebrow, Thick eyebrow, Polyphagia, Congenital diaphragmatic hernia	OMIM:618774
Sarcoidosis	Abnormal lung morphology, Increased T cell count, Uveitis, Tubulointerstitial nephritis, Leukopen...	ORPHA:797
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hemolytic anemia, Hepatomegaly, Pneumonia, Recurrent viral infections, Recurrent mycobacterial in...	ORPHA:169090
Solitary Fibrous Tumor	Recurrent hypoglycemia, Hypoglycemia, Hypoinsulinemia, Weight loss	ORPHA:2126
Melioidosis	Brain abscess, Unusual skin infection, Lung abscess, Foot osteomyelitis, Pneumonia, Liver abscess...	ORPHA:31202
Ciliary Dyskinesia, Primary, 34	Male infertility, Neonatal respiratory distress, Reduced respiratory ciliary beating frequency, B...	OMIM:617091
Hyperlipoproteinemia, Type Id	Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Splenomegaly, Pancre...	OMIM:615947
Adrenocortical Carcinoma	Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ...	ORPHA:1501
Premature Ovarian Failure 21	Streak ovary, Precocious puberty in females, Primary amenorrhea, Secondary amenorrhea, Decreased ...	OMIM:620311
Granulomatous disease with defect in neutrophil chemotaxis	Impaired neutrophil killing of staphylococci, Recurrent staphylococcal infections	OMIM:233670
Maturity-Onset Diabetes Of The Young, Type 13	Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet...	OMIM:616329
Ciliary Dyskinesia, Primary, 22	Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ...	OMIM:615444
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Autoimmune hemolytic anemia, Short stature, Eczema, Autoimmune thrombocytopenia, Desquamative int...	OMIM:615952
Kleine-Levin Syndrome	Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Agitatio...	ORPHA:33543
Seckel Syndrome 10	Acute pancreatitis, Hypertriglyceridemia, Diabetes mellitus, Elevated hemoglobin A1c, Elevated ci...	OMIM:617253
Partial Androgen Insensitivity Syndrome	Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ...	ORPHA:90797
Unclassified Myelodysplastic Syndrome	Acute myeloid leukemia, Bone marrow hypocellularity, Leukocytosis, Autoimmunity	ORPHA:98827
Idiopathic Chronic Eosinophilic Pneumonia	Autoimmunity, Atelectasis, Leukocytosis, Hypersensitivity pneumonitis, Hypereosinophilia, Pleural...	ORPHA:2902
Asbestos Intoxication	Reduced vital capacity, Reduced forced vital capacity, Atelectasis, Pleural thickening, Mediastin...	ORPHA:2302
Magel2-Related Prader-Willi-Like Syndrome	Premature pubarche, Hypopigmentation of hair, Impulsivity, Precocious puberty, Cryptorchidism, Fl...	ORPHA:398069
Maternal Uniparental Disomy Of Chromosome 2	Neonatal respiratory distress, Premature ovarian insufficiency, Hypospadias, Decreased response t...	ORPHA:96179
Ovarian Fibrothecoma	Ovarian fibroma, Metrorrhagia, Peritonitis, Abnormal circulating hormone concentration, Abnormal ...	ORPHA:314478
Sim1-Related Prader-Willi-Like Syndrome	Premature pubarche, Hypopigmentation of hair, Hypogonadotropic hypogonadism, Precocious puberty, ...	ORPHA:398079
Diabetes Mellitus, Permanent Neonatal, 4	Small for gestational age, Elevated hemoglobin A1c, Reduced C-peptide level, Diabetic ketoacidosi...	OMIM:618858
Wrinkly Skin Syndrome	Recurrent sinopulmonary infections, Short stature, Postnatal growth retardation, Cryptorchidism, ...	ORPHA:2834
Ciliary Dyskinesia, Primary, 13	Bronchiectasis, Immotile cilia, Infertility, Recurrent sinusitis, Recurrent otitis media, Ciliary...	OMIM:613193
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Pneumonia, Eosinophilia, Recurrent viral infections, Sple...	OMIM:603554
Reni Syndrome	Hypertriglyceridemia, Hypoglycemia, Cryptorchidism, Hypoalbuminemia, Adrenal insufficiency, Hypog...	OMIM:617575
Autosomal Recessive Cutis Laxa Type 1	Recurrent urinary tract infections, Severe short stature, Pneumothorax, Recurrent pneumonia, Resp...	ORPHA:90349
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Respiratory distress, Myositis, Sepsis, Tubulointerstitial nephritis, Iron deficiency anemia, Col...	ORPHA:37042
Combined Oxidative Phosphorylation Deficiency 51	Neonatal respiratory distress, Severe short stature, Growth delay, Respiratory failure, Aspiratio...	OMIM:619057
Ciliary Dyskinesia, Primary, 45	Male infertility, Recurrent respiratory infections, Bronchiectasis, Immotile cilia, Chronic rhinitis	OMIM:618801
Premature Ovarian Failure 9	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Hypoplasia of th...	OMIM:615724
Hypotonia-Cystinuria Syndrome	Failure to thrive, Polyphagia	ORPHA:163690
Frontotemporal Dementia	Polyphagia, Disinhibition, Inappropriate laughter	OMIM:600274
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Interstitial emphysema, Bronchiectasis, Inflammation of the large intestine, Rectovaginal fistula...	OMIM:619708
Hermansky-Pudlak Syndrome 2	Hepatomegaly, Absent platelet dense granules, Reduced natural killer cell activity, Splenomegaly,...	OMIM:608233
Ovarian Dysgenesis 7	Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec...	OMIM:618117
Protoporphyria, Erythropoietic, 1	Cholelithiasis, Hypertriglyceridemia	OMIM:177000
Gamma-Heavy Chain Disease	Recurrent respiratory infections, Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocy...	ORPHA:100026
Classic Galactosemia	Male infertility, Hepatomegaly, Decreased serum insulin-like growth factor 1, Premature ovarian i...	ORPHA:79239
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies	Male hypogonadism, Hyperglycemia, Hypergonadotropic hypogonadism, Glucose intolerance	OMIM:307500
Lmna-Related Cardiocutaneous Progeria Syndrome	Absent eyebrow, Hypertriglyceridemia, Lipoatrophy, Absent eyelashes, Pulmonary carcinoid tumor, A...	ORPHA:363618
Functioning Gonadotropic Adenoma	Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose...	ORPHA:91348
Complement Factor B Deficiency	Pneumonia, Peritonitis, Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease	OMIM:615561
Shwachman-Diamond Syndrome	Normocytic anemia, Sinusitis, Aplastic anemia, Decreased response to growth hormone stimulation t...	ORPHA:811
Loeys-Dietz Syndrome 4	Emphysema, Pneumothorax, Eosinophilic infiltration of the esophagus	OMIM:614816
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Recurrent Aspergillus infections, Recurrent bacterial skin infections, Hepatomegaly, Osteomyeliti...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Recurrent Aspergillus infections, Recurrent bacterial skin infections, Hepatomegaly, Osteomyeliti...	OMIM:233710
Secondary Short Bowel Syndrome	Low plasma citrulline, Abnormal blood ion concentration, Cholestasis, Weight loss, Central hypoth...	ORPHA:95427
Avian Influenza	Respiratory distress, Elevated circulating creatine kinase concentration, Elevated circulating C-...	ORPHA:454836
Recurrent Respiratory Papillomatosis	Respiratory distress, Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract in...	ORPHA:60032
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increa...	OMIM:267700
Immunodeficiency 23	Recurrent respiratory infections, Hemolytic anemia, Membranoproliferative glomerulonephritis, Ecz...	OMIM:615816
Lead Poisoning	Decreased female libido, Skin rash, Miscarriage, Abnormality of the menstrual cycle, Asthma, Incr...	ORPHA:330015
Facioscapulohumeral Muscular Dystrophy 3, Digenic	Aspiration pneumonia	OMIM:619477
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Recurrent urinary tract infections, Neonatal respiratory distress, Psoriasiform dermatitis, Recur...	ORPHA:221139
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Recurrent viral infections, T lymphocytopenia, Recurrent abscess formation, Cough, Abnormal natur...	ORPHA:79124
Aortic Valve Disease 3	Aortic root aneurysm, Ascending aortic dissection	OMIM:618496
Right Pulmonary Artery, Anomalous Origin Of, Familial	Patent ductus arteriosus, Anomalous origin of right pulmonary artery from ascending aorta, Coarct...	OMIM:610338
Perlman Syndrome	Hepatomegaly, Inguinal hernia, Femoral hernia, Cryptorchidism, Abnormal pancreas morphology, Hype...	ORPHA:2849
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Hyperlipidemia, Mildly elevated creatine kinase, Hyperglycemia	OMIM:604484
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Recurrent Aspergillus infections, Recurrent bacterial skin infections, Hepatomegaly, Osteomyeliti...	OMIM:233690
Pneumocystosis	Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Pneumocystis jirove...	ORPHA:723
Meconium Aspiration Syndrome	Respiratory distress, Maternal diabetes, Atelectasis, Neonatal asphyxia, Pneumothorax, Wheezing, ...	ORPHA:70588
Glycogen Storage Disease 0, Liver	Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia	OMIM:240600
Hepatic Lipase Deficiency	Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration	OMIM:614025
Diabetes Mellitus, Permanent Neonatal, 1	Diabetes mellitus, Small for gestational age, Elevated hemoglobin A1c, Reduced C-peptide level, T...	OMIM:606176
Frasier Syndrome	Streak ovary, Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Male pseu...	ORPHA:347
Luscan-Lumish Syndrome	Aggressive behavior, Obesity, Polycystic ovaries, Overgrowth, High anterior hairline, Polyphagia,...	OMIM:616831
Ciliary Dyskinesia, Primary, 5	Recurrent respiratory infections, Neonatal respiratory distress, Recurrent pneumonia, Bronchiecta...	OMIM:608647
Ovarian Dysgenesis 5	Short stature, Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of ...	OMIM:617690
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus	Male infertility, Recurrent respiratory infections, Bronchiectasis, Decreased nasal nitric oxide,...	OMIM:620197
Estrogen Resistance Syndrome	Increased circulating gonadotropin level, Absence of secondary sex characteristics, Hyperinsuline...	ORPHA:785
Tracheobronchopathia Osteochondroplastica	Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,...	ORPHA:3348
Hemochromatosis, Type 3	Hypogonadotropic hypogonadism, Increased circulating ferritin concentration, Arthritis, Impotence...	OMIM:604250
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H...	ORPHA:247598
Kleine-Levin Hibernation Syndrome	Polyphagia	OMIM:148840
Pediatric-Onset Graves Disease	Hepatomegaly, Hyperactivity, Puberty and gonadal disorders, Splenomegaly, Jaundice, Thyrotoxicosi...	ORPHA:525731
Bronchiolitis Obliterans With Obstructive Pulmonary Disease	Autoimmunity, Pneumonia, Respiratory tract infection, Bronchiectasis, Bronchiolitis obliterans	ORPHA:1303
Premature Ovarian Failure 7	Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Secondary amenor...	OMIM:612964
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Recurrent respiratory infections, Osteomyelitis, Recurrent skin infections, Eczema, Eosinophilia,...	OMIM:618282
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Streak ovary, Hypergonadotropic hypogonadism, Non-obstructive azoospermia, Cryptorchidism, Increa...	ORPHA:2232
Summitt Syndrome	Obesity	OMIM:272350
Renal Glucosuria	Polydipsia, Polyphagia, Glycosuria	OMIM:233100
Rigid Spine Syndrome	Abnormality on pulmonary function testing, Pneumonia, Respiratory insufficiency	ORPHA:97244
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Splenomegaly, Increa...	ORPHA:158057
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia	Diabetes mellitus, Hypogonadotropic hypogonadism, Obesity, Absence of pubertal development	OMIM:610628
Congenital Disorder Of Glycosylation, Type Iif	Macrothrombocytopenia, Recurrent bacterial infections, Neutropenia, Decreased platelet glycoprote...	OMIM:603585
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration...	OMIM:207750
Paternal Uniparental Disomy Of Chromosome 1	Hypercalcemia, Abnormal dental enamel morphology, Obesity, Increased blood urea nitrogen, Delayed...	ORPHA:251004
Immunodeficiency, Common Variable, 13	Pancytopenia, Decreased circulating antibody level, Acute lymphoblastic leukemia, Recurrent bacte...	OMIM:616873
Chédiak-Higashi Syndrome	Recurrent staphylococcal infections, Vacuolated lymphocytes, Periodontitis, Neutropenia, Abnormal...	ORPHA:167
Pituicytoma	Hypopituitarism, Decreased female libido, Hypogonadotropic hypogonadism, Decreased response to gr...	ORPHA:251623
Coccidioidomycosis	Respiratory distress, Abnormality of the spleen, Increased circulating IgG level, Abnormality of ...	ORPHA:228123
Diffuse Alveolar Hemorrhage	Antiphospholipid antibody positivity, Rheumatoid factor positive, Autoimmunity, Antinuclear antib...	ORPHA:90060
Hemochromatosis, Type 1	Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Increased circulating ferritin co...	OMIM:235200
Glycogen Storage Disease Iii	Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperlipidemia, H...	OMIM:232400
Man1B1-Cdg	Long eyebrows, Sparse eyebrow, Abnormal position of hair whorl, Truncal obesity, Long eyelashes, ...	ORPHA:397941
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Recurrent skin infections, Epistaxis, Splenomegaly, L...	OMIM:612840
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Ketotic hypoglycemia, Hyperlipidemia, Glycosuria, Postprandial hyperglycemia, Failure to thrive	ORPHA:2089
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Decreased circulating ...	OMIM:228300
Postinfectious Vasculitis	Elevated circulating C-reactive protein concentration, Severe varicella zoster infection, Recurre...	ORPHA:48435
Hypobetalipoproteinemia, Familial, 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr...	OMIM:615558
Diarrhea 7, Protein-Losing Enteropathy Type	Hypercholesterolemia, Hyperlipidemia, Failure to thrive, Hypoalbuminemia	OMIM:615863
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Fused labia majora, Decreased circulating cortisol level, Ambiguous genitalia, female, Abnormal o...	ORPHA:90794
Estrogen Resistance	Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ...	OMIM:615363
Agammaglobulinemia 1, Autosomal Recessive	Recurrent respiratory infections, Recurrent pneumonia, Neutropenia, Bronchiectasis, Decreased cir...	OMIM:601495
Ataxia-Telangiectasia	Lymphopenia, Diabetes mellitus, Short stature, Female hypogonadism, Elevated circulating alpha-fe...	OMIM:208900
Immunodeficiency 92	Hepatomegaly, Recurrent oral herpes, Osteomyelitis, Persistent CMV viremia, Pneumonia, Cholangiti...	OMIM:619652
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Decreased response to growth hormone stimulation test, Decreased circulating parathyroid hormone ...	OMIM:241410
Ciliary Dyskinesia, Primary, 19	Male infertility, Recurrent respiratory infections, Bronchiectasis, Immotile cilia, Rhinitis, Res...	OMIM:614935
Perrault Syndrome 2	Streak ovary, Amenorrhea	OMIM:614926
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Inflammation of the large intestine, Periodontitis, Hepatic steatosis, Hypothyroidism, Hepatomega...	ORPHA:79259
Immunodeficiency 33	Pneumocystis jirovecii pneumonia, Increased circulating IgA level, Recurrent bacterial infections...	OMIM:300636
Atypical Werner Syndrome	Abnormal hair whorl, Fasting hyperinsulinemia, Premature graying of hair, Hyperglycemia, Hepatic ...	ORPHA:79474
Immunodeficiency 60 And Autoimmunity	Recurrent sinopulmonary infections, Pancytopenia, Splenomegaly, Bronchiectasis, Ulcerative coliti...	OMIM:618394
Narcolepsy 7	Type II diabetes mellitus, Obesity	OMIM:614250
46,Xy Sex Reversal 1	Abnormality of male external genitalia, Hypergonadotropic hypogonadism, Elevated circulating lute...	OMIM:400044
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Lymphopenia, Atrophic gastritis, Psoriasiform dermatitis, Autoimmune hemolytic anemia, Eczema, He...	OMIM:616100
Cutis Laxa, Autosomal Dominant 1	Dyspnea, Bronchiectasis, Uterine prolapse, Emphysema, Peripheral pulmonary artery stenosis	OMIM:123700
Cortisone Reductase Deficiency 1	Precocious puberty, Acne, Infertility, Oligomenorrhea	OMIM:604931
Lymphoproliferative Syndrome 1	Pancytopenia, Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Thrombocyto...	OMIM:613011
Microduplication Xp11.22P11.23 Syndrome	Precocious puberty, Obesity	ORPHA:217377
Chylomicron Retention Disease	Hypertriglyceridemia, Hypocholesterolemia, Steatorrhea, Increased hepatocellular lipid droplets, ...	ORPHA:71
Infant Acute Respiratory Distress Syndrome	Respiratory tract infection, Atelectasis, Pneumonia, Pulmonary edema	ORPHA:70587
Post-Traumatic Pituitary Deficiency	Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Decreased c...	ORPHA:95619
Immunodeficiency, Common Variable, 12, With Autoimmunity	Recurrent sinopulmonary infections, Atrophic gastritis, Autoimmune hemolytic anemia, Recurrent sk...	OMIM:616576
Short Syndrome	Inguinal hernia, Lipoatrophy, Lipodystrophy, Small for gestational age, Insulin-resistant diabete...	OMIM:269880
Congenital Multicore Myopathy With External Ophthalmoplegia	Recurrent respiratory infections, Small scrotum, Pneumonia, Cryptorchidism, Abnormal respiratory ...	ORPHA:98905
Fusariosis	Fasciitis, Sinusitis, Myositis, Abnormality of the spleen, Abnormality of the liver, Neutropenia,...	ORPHA:228119
Bronchogenic Cyst	Abnormal peritoneum morphology, Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Chronic in...	ORPHA:2357
Brucellosis	Liver abscess, Bronchitis, Elevated circulating C-reactive protein concentration, Knee osteoarthr...	ORPHA:1304
Congenital Heart Defects, Multiple Types, 6	Hypoplastic pulmonary veins, Coarctation of aorta, Right aortic arch, Total anomalous pulmonary v...	OMIM:613854
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency	Hypertriglyceridemia, Increased HDL cholesterol concentration	ORPHA:140905
Lig4 Syndrome	Recurrent respiratory infections, Pancytopenia, Psoriasiform dermatitis, Cryptorchidism, Asthma, ...	OMIM:606593
Immunodeficiency 40	Hepatomegaly, Respiratory tract infection, Severe varicella zoster infection, Recurrent pneumonia...	OMIM:616433
Isolated Follicle Stimulating Hormone Deficiency	Decreased serum testosterone concentration, Hyperplasia of the Leydig cells, Decreased female lib...	ORPHA:52901
Microsporidiosis	Myositis, Sinusitis, Cholangitis, Bronchitis, Abnormality of the spleen, Abnormality of the parat...	ORPHA:2552
Immunodeficiency 21	Osteomyelitis, Aplastic anemia, Recurrent viral infections, Neutropenia, Recurrent fungal infecti...	OMIM:614172
Osteosclerosis With Ichthyosis And Premature Ovarian Failure	Premature ovarian insufficiency, Hypoplasia of the ovary	OMIM:609993
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Eunuchoid habitus, Abnormality of the thyroid gland, Obesity, Hypogonadism, Type II diabetes mell...	ORPHA:2234
Autosomal Agammaglobulinemia	Recurrent respiratory infections, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections,...	ORPHA:33110
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Lymphopenia, Recurrent skin infections, Asthma, Recurrent upper respiratory tract infections, Rec...	OMIM:619752
Riddle Syndrome	Generalized lymphadenopathy, Short stature, Pneumonia, Elevated circulating alpha-fetoprotein con...	ORPHA:420741
Vici Syndrome	Decreased circulating IgG level, Recurrent respiratory infections, Lymphopenia, Elevated circulat...	OMIM:242840
Seckel Syndrome 7	Severe short stature, Primary amenorrhea, Central hypothyroidism, Hypoplasia of the uterus, Intra...	OMIM:614851
Silver-Russell Syndrome Due To A Point Mutation	Bifid scrotum, Hypospadias, Dysmenorrhea, Postnatal growth retardation, Cryptorchidism, Asthma, A...	ORPHA:397590
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Pneumonia	ORPHA:85179
Non-Functioning Pituitary Adenoma	Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio...	ORPHA:91349
Neonatal Marfan Syndrome	Neonatal respiratory distress, Emphysema, Decreased testicular size, Hypoxemia	ORPHA:284979
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Hepatomegaly, Crackles, Cough, Atelectasis, Mediastinal lymphadenopathy, Dyspnea, Asthma, Abnorma...	OMIM:620233
Subaortic Stenosis-Short Stature Syndrome	Inguinal hernia, Biliary tract abnormality, Obesity, Type II diabetes mellitus, Abnormal circulat...	ORPHA:3191
Autosomal Dominant Cutis Laxa	Postnatal growth retardation, Bronchiectasis, Pyelonephritis, Bronchiolitis, Intrauterine growth ...	ORPHA:90348
Bacterial Toxic-Shock Syndrome	Respiratory distress, Fasciitis, Sinusitis, Myositis, Elevated circulating creatine kinase concen...	ORPHA:36234
Hepatic Veno-Occlusive Disease	Hepatomegaly, Jaundice, Increased body weight, Increased total bilirubin	ORPHA:890
Pseudohypoparathyroidism Type 1C	Calcinosis, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test...	ORPHA:79444
Proteasome-Associated Autoinflammatory Syndrome 1	Decreased HDL cholesterol concentration, Elevated circulating C-reactive protein concentration, A...	OMIM:256040
Systemic-Onset Juvenile Idiopathic Arthritis	Autoimmunity, Splenomegaly, Lymphadenopathy, Pleural effusion, Juvenile rheumatoid arthritis	ORPHA:85414
Aortic Valve Disease 2	Calcification of the aorta, Coarctation of aorta, Ascending aortic dissection, Aortic tortuosity,...	OMIM:614823
Fabry Disease	Short stature, Dyspnea, Chronic pulmonary obstruction, Respiratory insufficiency, Arthritis, Dela...	ORPHA:324
Ovarian Dysgenesis 6	Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Absence of pubertal development, Primar...	OMIM:618078
Low Phospholipid-Associated Cholelithiasis	Liver abscess, Hypercholesterolemia, Cholangitis, Diabetes mellitus, Overweight, Intrahepatic cho...	ORPHA:69663
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Respiratory failure requiring assisted ventilation, Elevated circulating creatine kinase concentr...	ORPHA:90117
Immunodeficiency 31B	Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections	OMIM:613796
Omenn Syndrome	Hepatomegaly, Pneumonia, Eosinophilia, Splenomegaly, Leukocytosis, Sepsis, Thyroiditis, Lymphaden...	ORPHA:39041
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abscess, Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia...	OMIM:150550
Pancreatic And Cerebellar Agenesis	Reduced subcutaneous adipose tissue, Diabetes mellitus, Hypoglycemia, Flexion contracture, Pancre...	OMIM:609069
Acute Lung Injury	Respiratory distress, Acute pancreatitis, Pneumonia, Elevated circulating C-reactive protein conc...	ORPHA:178320
Hydatidiform Mole	Menometrorrhagia, Miscarriage, Hyperthyroidism, Enlarged uterus, Anemia	ORPHA:99927
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Hypoplasia of the vagina, Dysmenorrhea, Ambiguous genitalia, male, Decreased serum estradiol, Dec...	ORPHA:90796
Rabson-Mendenhall Syndrome	Fasting hyperinsulinemia, Low anterior hairline, Premature graying of hair, Fasting hypoglycemia,...	ORPHA:769
Bloom Syndrome	Decreased circulating IgG level, Elevated hemoglobin A1c, Decreased fertility in females, Postnat...	OMIM:210900
Hereditary Bullous Dystrophy, Macular Type	Short stature, Pneumonia, External genital hypoplasia, Cryptorchidism, Growth delay, Decreased te...	ORPHA:1867
45,X/46,Xy Mixed Gonadal Dysgenesis	Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit...	ORPHA:1772
Greig Cephalopolysyndactyly Syndrome	Inguinal hernia, Cryptorchidism, Camptodactyly of toe, Umbilical hernia, Hyperglycemia, Joint con...	OMIM:175700
Ciliary Dyskinesia, Primary, 38	Neonatal respiratory distress, Productive cough, Bronchiectasis, Decreased nasal nitric oxide, Im...	OMIM:618063
Müllerian Aplasia And Hyperandrogenism	Short stature, Acne, Primary amenorrhea, Hypoplasia of the uterus, Increased serum testosterone l...	ORPHA:247768
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, Hypoglycemia,...	OMIM:619418
Dietary Iron Overload Disease	Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Increased circulating...	ORPHA:139507
Prader-Willi Syndrome	Hypopigmentation of hair, Diabetes mellitus, Decreased response to growth hormone stimulation tes...	ORPHA:739
Immunodeficiency 58	Colitis, Chronic otitis media, Recurrent cutaneous abscess formation, Short stature, Chronic pulm...	OMIM:618131
Ciliary Dyskinesia, Primary, 2	Respiratory distress, Recurrent respiratory infections, Sinusitis, Bronchiectasis, Immotile cilia...	OMIM:606763
Premature Ovarian Failure 13	Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l...	OMIM:617442
Complement Factor H Deficiency	Recurrent bacterial infections	OMIM:609814
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Decreased circulating cortisol level, Premature thelarche, Ambiguous genitalia, female, Premature...	ORPHA:90795
Sickle Cell Disease	Hemolytic anemia, Hepatomegaly, Splenomegaly, Splenic infarction, Leukocytosis, Jaundice, Hypoxem...	OMIM:603903
X-Linked Centronuclear Myopathy	Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve...	ORPHA:596
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypertriglyceridemia, Peritonitis, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating li...	ORPHA:567548
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Hyperlipidemia, Cirrhosis, N...	OMIM:214900
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen...	OMIM:614837
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Absent gallbladder, Unilateral lung agenesis, Proportionate short stature, Secretory IgA deficien...	ORPHA:500150
Felty Syndrome	Recurrent respiratory infections, Autoimmunity, Recurrent pharyngitis, Thrombocytopenia, Recurren...	ORPHA:47612
Familial Renal Glucosuria	Insulin resistance, Abnormal circulating insulin concentration, Glycosuria, Hyperglycemia, Abnorm...	ORPHA:69076
Q Fever	Respiratory distress, Abnormality of the liver, Cholecystitis, Cough, Meningitis, Infectious ence...	ORPHA:781
Biemond Syndrome Type 2	Hypogonadism, Hypogonadotropic hypogonadism, Obesity, Delayed puberty	ORPHA:141333
Neutral Lipid Storage Disease With Ichthyosis	Hepatomegaly, Alopecia, Hypertriglyceridemia, Micronodular cirrhosis, Obesity, Abnormal circulati...	ORPHA:98907
Angelman Syndrome	Hyperactivity, Precocious puberty in females, Aggressive behavior, Tongue thrusting, Obesity, Sel...	ORPHA:72
Immunodeficiency 31A	Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent...	OMIM:614892
Bardet-Biedl Syndrome	Hypoplasia of penis, Short stature, Cryptorchidism, Hypoplasia of the ovary, Hypogonadism, Hepati...	ORPHA:110
Prolactin Deficiency With Obesity And Enlarged Testes	Obesity, Reduced circulating prolactin concentration	OMIM:264120
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Neonatal sepsis, Endometrial carcinoma, Decreased circulating cortisol level, Adrenal hyperplasia...	ORPHA:90790
Acute Promyelocytic Leukemia	Pancytopenia, Metrorrhagia, Epistaxis, Diffuse alveolar hemorrhage, Chronic infection, Productive...	ORPHA:520
Keutel Syndrome	Sinusitis, Miscarriage, Recurrent bronchitis, Pulmonary artery hypoplasia, Recurrent otitis media...	OMIM:245150
Lassa Fever	Menometrorrhagia, Miscarriage, Dyspnea, Jaundice, Sepsis, Increased circulating IgM level, Conjun...	ORPHA:99824
Tenorio Syndrome	Hypoglycemia, Hypoinsulinemia	OMIM:616260
Neutropenia, Severe Congenital, 3, Autosomal Recessive	Acute lymphoblastic leukemia, Recurrent bacterial infections, Neutropenia	OMIM:610738
Autosomal Dominant Hyper-Ige Syndrome	Recurrent respiratory infections, Osteomyelitis, Skin rash, Eczema, Eosinophilia, Atelectasis, In...	ORPHA:2314
Hyperlipoproteinemia, Type I	Splenomegaly, Jaundice, Hyperlipidemia, Hepatosplenomegaly, Lactescent serum, Increased circulati...	OMIM:238600
Ciliary Dyskinesia, Primary, 37	Female infertility, Goiter, Wheezing, Bronchiectasis, Chronic rhinitis, Hypothyroidism, Rhinorrhea	OMIM:617577
Morgagni-Stewart-Morel Syndrome	Diabetes mellitus, Abnormality of the endocrine system, Abnormality of the thyroid gland, Obesity...	ORPHA:77296
Prolactinoma	Male hypogonadism, Hypogonadotropic hypogonadism, Decreased fertility in males, Delayed puberty, ...	ORPHA:2965
Double Uterus-Hemivagina-Renal Agenesis Syndrome	Dyspareunia, Partial vaginal septum, Metrorrhagia, Dysmenorrhea, Abnormal uterine cervix morpholo...	ORPHA:3411
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hyperlipidemia, Hypoglycemia, Hyperuricemia	ORPHA:364
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hyponatremia, Decreased response to growth hormone stimulation test, Central diabetes insipidus, ...	ORPHA:293987
Prader-Willi Syndrome	Hypopigmentation of hair, Failure to thrive in infancy, Decreased response to growth hormone stim...	OMIM:176270
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Increased circulating f...	OMIM:603553
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Sinusitis, Short stature, Pneumonia, Bronchiectasis, Increased circulating IgM level, T lymphocyt...	OMIM:242860
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Anisocytosis, Microvesicular hepatic steatosis, Tachypnea, Hepatocellular necrosis, Death in chil...	OMIM:618278
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Obesity, Congenital hypothyroidism	ORPHA:88643
Immunodeficiency 13	Lymphopenia, Recurrent shingles, Recurrent upper respiratory tract infections, Bronchiolitis obli...	OMIM:615518
Mitochondrial Complex I Deficiency, Nuclear Type 33	Apnea, Hypospadias, Bronchiectasis, Respiratory insufficiency, Simplified gyral pattern, Aspirati...	OMIM:618253
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Pneumoni...	OMIM:600802
Microtriplication 11Q24.1	Hyperlipidemia, Synophrys, Obesity, Long eyelashes, Bruxism, Thick eyebrow	ORPHA:289522
Lcat Deficiency	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	ORPHA:650
Mandibuloacral Dysplasia With Type B Lipodystrophy	Calcinosis, Alopecia, Abnormal hair morphology, Hyperlipidemia, Insulin resistance, Generalized l...	ORPHA:90154
Galactokinase Deficiency	Hypergonadotropic hypogonadism, Small for gestational age, Hypoglycemia, Hyperinsulinemia, Failur...	ORPHA:79237
Microphthalmia, Syndromic 9	Severe short stature, Short stature, Agenesis of pulmonary vessels, Cryptorchidism, Alveolar capi...	OMIM:601186
Immunodeficiency 57 With Autoinflammation	Recurrent respiratory infections, Gastritis, Skin rash, Perianal abscess, Bronchiectasis, Decreas...	OMIM:618108
Ciliary Dyskinesia, Primary, 42	Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchiectasis, Respirat...	OMIM:618695
Ciliary Dyskinesia, Primary, 27	Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ...	OMIM:615504
Gaisböck Syndrome	Hypertriglyceridemia, Diabetes mellitus, Overweight, Splenomegaly, Obesity, Hyperproteinemia, Inc...	ORPHA:90041
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Precocious puberty, Hypercholesterolemia, Obesity, Maturity-onset diabetes of the young	ORPHA:254531
Mounier-Kühn Syndrome	Recurrent respiratory infections, Recurrent bronchopulmonary infections, Pneumonia, Bronchitis	ORPHA:3347
Wiskott-Aldrich Syndrome	Sinusitis, Abnormal eosinophil morphology, Microcytic anemia, Sepsis, Inflammation of the large i...	ORPHA:906
Premature Ovarian Failure 15	Irregular menstruation, Secondary amenorrhea, Elevated circulating follicle stimulating hormone l...	OMIM:618096
Premature Ovarian Failure 3	Hypoplasia of the uterus, Premature ovarian insufficiency, Secondary amenorrhea	OMIM:608996
Werner Syndrome	Diabetes mellitus, Hypertriglyceridemia, Elevated hemoglobin A1c, Hypogonadism, Alopecia of scalp	OMIM:277700
Graft Versus Host Disease	Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Inflammatory abnormality of the skin, Ja...	ORPHA:39812
Macrophage Activation Syndrome	Hepatomegaly, Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Spleno...	ORPHA:158061
Bardet-Biedl Syndrome 6	Diabetes mellitus, Obesity	OMIM:605231
Classical-Like Ehlers-Danlos Syndrome Type 2	Ventral hernia, Inguinal hernia, Widened atrophic scar, Hypertriglyceridemia, Diabetes mellitus, ...	ORPHA:536532
Rett Syndrome	Increased serum pyruvate, Hyperammonemia, Agitation, Cholecystitis, Increased serum leptin, Failu...	ORPHA:778
Neutropenia, Severe Congenital, X-Linked	Eczema, Recurrent bacterial infections, Neutropenia, Monocytopenia, Decreased CD4:CD8 ratio	OMIM:300299
Immunodeficiency 47	Normocytic anemia, Leukopenia, Hepatic fibrosis, Hepatic steatosis, Accessory spleen, Hepatomegal...	OMIM:300972
Idiopathic Neonatal Atrial Flutter	Maternal diabetes, Large for gestational age	ORPHA:45452
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction	Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Exocrine pancreatic...	OMIM:609812
Diabetes Mellitus, Transient Neonatal, 3	Elevated hemoglobin A1c, Maternal diabetes, Reduced C-peptide level, Transient neonatal diabetes ...	OMIM:610582
Craniopharyngioma	Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Pitu...	ORPHA:54595
Immunodeficiency 56	Recurrent respiratory infections, Pneumocystis jirovecii pneumonia, Cholangitis, Recurrent pneumo...	OMIM:615207
Pseudohypoparathyroidism Type 1A	Calcinosis, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test...	ORPHA:79443
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Recurrent bacterial skin infections, Recurrent systemi...	OMIM:214500
Mullerian Aplasia And Hyperandrogenism	Abnormal external genitalia, Acne, Increased circulating dehydroepiandrosterone-sulfate concentra...	OMIM:158330
Immunodeficiency 43	Recurrent respiratory infections, Lung abscess, Decreased specific antibody response to polysacch...	OMIM:241600
Fanconi Anemia, Complementation Group F	Short stature, Pneumonia, Decreased response to growth hormone stimulation test, Cryptorchidism, ...	OMIM:603467
Trisomy 18P	Bilateral cryptorchidism, Attention deficit hyperactivity disorder, Polyphagia, Highly arched eye...	ORPHA:1715
Adult Acute Respiratory Distress Syndrome	Pneumonia, Dyspnea, Sepsis, Hypoxemia, Diabetic ketoacidosis, Respiratory failure, Abnormal blood...	ORPHA:70578
Hypergonadotropic Hypogonadism And Partial Alopecia	Streak ovary, Hypergonadotropic hypogonadism	OMIM:241090
Purine Nucleoside Phosphorylase Deficiency	Recurrent respiratory infections, Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocy...	ORPHA:760
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Respiratory distress, Brain abscess, Central apnea, Severe short stature, Rhizomelia, Disproporti...	OMIM:616482
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Increased circulating ferritin concentration, Hypoplastic spleen, Hypertriglyceridemia, Hypoplasi...	OMIM:619313
Polycystic Ovary Syndrome 1	Enlarged polycystic ovaries, Oligomenorrhea, Amenorrhea	OMIM:184700
Digeorge Syndrome	Impaired T cell function, Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia of the t...	OMIM:188400
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Sex reversal, In...	ORPHA:289548
Pseudohypoparathyroidism, Type Ib	Pseudohypoparathyroidism, Obesity, Hyperphosphatemia, Elevated circulating parathyroid hormone le...	OMIM:603233
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome	Impulsivity, Cryptorchidism, Synophrys, Increased body weight, Attention deficit hyperactivity di...	ORPHA:589905
Pseudohypoparathyroidism, Type Ic	Elevated circulating thyroid-stimulating hormone concentration, Pseudohypoparathyroidism, Obesity...	OMIM:612462
Satoyoshi Syndrome	Hypoplasia of the uterus, Short stature, Mildly elevated creatine kinase, Amenorrhea	OMIM:600705
Immunodeficiency 27B	Generalized lymphadenopathy, Osteomyelitis, Recurrent mycobacterial infections, Salmonella osteom...	OMIM:615978
Bangstad Syndrome	Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cortisol level, Pri...	ORPHA:1227
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Decreased circulating cortisol level, Adrenal hypoplasia, Sex reversal, Increased circulating ren...	ORPHA:168558
Glycerol Kinase Deficiency	Adrenocortical hypoplasia, Hypertriglyceridemia, Small for gestational age, Hypoglycemia, Hypergl...	OMIM:307030
Nephrotic Syndrome, Type 2	Hyperlipidemia, Hypoalbuminemia	OMIM:600995
Bronchial Neuroendocrine Tumor	Hepatomegaly, Pneumonia, Elevated circulating growth hormone concentration, Chronic noninfectious...	ORPHA:97287
Neutral Lipid Storage Myopathy	Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Chronic pancreatitis, Obesity, Pineal cyst...	ORPHA:98908
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Bronchitis, Elevated circulating C-reactive protein concen...	OMIM:619381
Ciliary Dyskinesia, Primary, 20	Recurrent respiratory infections, Productive cough, Atelectasis, Pulmonary artery stenosis, Recur...	OMIM:615067
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatomegaly, Elevated circulating creatine kinase concentration, Eczema, Lymphadenitis, Splenome...	OMIM:615895
Celiac Artery Stenosis From Compression By Median Arcuate Ligament Of Diaphragm	Celiac artery compression	OMIM:116870
Wagro Syndrome	Aggressive behavior, Obesity, Agitation, Compulsive behaviors, Polyphagia, Decreased testicular size	OMIM:612469
Immunodeficiency 31C	Cough, Disseminated histoplasmosis, Recurrent vulvovaginal candidiasis, Hypothyroidism, Hepatomeg...	OMIM:614162
Immunodeficiency 87 And Autoimmunity	Atrophic gastritis, Elevated circulating C-reactive protein concentration, Recurrent viral infect...	OMIM:619573
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Respiratory insufficiency due to muscle weakness, Respiratory failure, Recurrent aspiration pneum...	ORPHA:2590
19P13.12 Microdeletion Syndrome	Hyperactivity, Precocious puberty, Cryptorchidism, Hyperlipidemia, Hypothyroidism, Synophrys, Obe...	ORPHA:254346
Familial Hemophagocytic Lymphohistiocytosis	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Increased circulating ferritin concen...	ORPHA:540
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Large for gestational age, Elevated circulating thyroid-stimulating hormone concentration, Congen...	ORPHA:226313
Diabetes And Deafness, Maternally Inherited	Hyperglycemia, Type II diabetes mellitus	OMIM:520000
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Cholangiocarcinoma, Diabetes mellitus, Hypogonadotropic hypogonadism, Portal hypert...	ORPHA:465508
Good Syndrome	Abnormal leukocyte morphology, Recurrent respiratory infections, Recurrent urinary tract infectio...	ORPHA:169105
Kenny-Caffey Syndrome, Type 1	Proportionate short stature, Birth length less than 3rd percentile, Recurrent bacterial infection...	OMIM:244460
Klippel-Trénaunay Syndrome	Hepatomegaly, Pulmonary embolism, Microcytic anemia, Abnormality of the menstrual cycle, Respirat...	ORPHA:90308
Polyembryoma	Abnormal peritoneum morphology, Abnormal circulating gonadotropin concentration, Isosexual precoc...	ORPHA:180229
Retinitis Pigmentosa 82 With Or Without Situs Inversus	Productive cough, Decreased nasal nitric oxide, Bronchiectasis, Recurrent infections, Reduced spe...	OMIM:615434
Short Fifth Metacarpals-Insulin Resistance Syndrome	Hyperinsulinemia	ORPHA:66518
Fanconi-Bickel Syndrome	Reduced subcutaneous adipose tissue, Hepatomegaly, Hypouricemia, Intrahepatic cholestasis, Hypoph...	OMIM:227810
Nijmegen Breakage Syndrome	Recurrent urinary tract infections, Premature ovarian insufficiency, Short stature, Sinusitis, Dy...	OMIM:251260
Cryptococcosis	Respiratory distress, Osteomyelitis, Lymphoid leukemia, Pneumonia, Nodular pattern on pulmonary H...	ORPHA:1546
Resistance To Thyrotropin-Releasing Hormone Syndrome	Reduced radioactive iodine uptake, Reduced circulating prolactin concentration, Overweight, Eleva...	ORPHA:99832
Hyperlipidemia, Familial Combined, 3	Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c...	OMIM:144250
Diethylstilbestrol Syndrome	Central apnea, Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertilit...	ORPHA:1916
Essential Fructosuria	Hyperglycemia	ORPHA:2056
Mandibuloacral Dysplasia Progeroid Syndrome	Hepatomegaly, Hypertriglyceridemia, Elevated hemoglobin A1c, Sparse eyebrow, Flexion contracture,...	OMIM:619127
Combined Oxidative Phosphorylation Deficiency 54	Hyperglycemia, Hypergonadotropic hypogonadism, Obesity	OMIM:619737
Wilson Disease	Hepatomegaly, Abnormality of the menstrual cycle, Splenomegaly, Thrombocytopenia, Jaundice, Hepat...	ORPHA:905
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Small for gestational age, Maturity-onset diabetes of the young, Precocious puberty, Cryptorchidi...	ORPHA:96184
Pyruvate Dehydrogenase E1-Alpha Deficiency	Neonatal respiratory distress, Recurrent infections, Intrauterine growth retardation, Polymicrogy...	ORPHA:79243
Isolated Sedoheptulokinase Deficiency	Inguinal hernia, Portal hypertension, Flexion contracture, Hepatitis, Cholestasis, Cholestatic li...	ORPHA:440713
Timothy Syndrome	Pneumonia, Bronchitis, Recurrent infections, Pulmonary arterial hypertension, Hypothyroidism	OMIM:601005
Methanol Poisoning	Type I diabetes mellitus, Hyperlipidemia, Addictive alcohol use, Type II diabetes mellitus	ORPHA:31825
Adnp Syndrome	Sparse scalp hair, Inguinal hernia, Oral-pharyngeal dysphagia, Aggressive behavior, Cryptorchidis...	ORPHA:404448
Lysosomal Acid Lipase Deficiency	Hyponatremia, Hypertriglyceridemia, Adrenal calcification, Cachexia, Hypersplenism, Microvesicula...	ORPHA:275761
Woodhouse-Sakati Syndrome	Decreased serum testosterone concentration, Premature ovarian insufficiency, Streak ovary, Decrea...	ORPHA:3464
Listeriosis	Respiratory distress, Liver abscess, Abnormal cellular immune system morphology, Sepsis, Granulom...	ORPHA:533
Immunodeficiency 10	Autoimmune hemolytic anemia, Lymphadenopathy, Recurrent infections, Recurrent bacterial infection...	OMIM:612783
Gangliocytoma	Pituitary null cell adenoma, Elevated circulating growth hormone concentration, Abnormal pituitar...	ORPHA:251937
Weaver Syndrome	Inguinal hernia, Cryptorchidism, Fine hair, Hydrocele testis, Overgrowth, Camptodactyly, Sparse h...	OMIM:277590
Griscelli Syndrome Type 1	Premature graying of hair, Hyperlipidemia, White hair	ORPHA:79476
Chromomycosis	Keratitis, Abnormal lung morphology, Recurrent bacterial infections, Keratoconjunctivitis sicca, ...	ORPHA:182
Kaposiform Lymphangiomatosis	Metrorrhagia, Epistaxis, Pancreatic cysts, Splenomegaly, Abnormal lung morphology, Dyspnea, Throm...	ORPHA:464329
Diabetes Mellitus, Permanent Neonatal, 3	Type I diabetes mellitus, Hyperglycemia, Small for gestational age, Glycosuria	OMIM:618857
Intellectual Developmental Disorder, Autosomal Dominant 1	Highly arched eyebrow, Aggressive behavior, Low posterior hairline, Self-injurious behavior, Long...	OMIM:156200
Xp21 Deletion Syndrome	Hypertriglyceridemia, Hypogonadotropic hypogonadism, Elevated circulating creatine kinase concent...	ORPHA:261476
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Streak ovary, Hypospadias, Cryptorchidism, Abnormality of the uterus, Gonadoblastoma, Abnormal va...	OMIM:194072
Mitchell-Riley Syndrome	Absent gallbladder, Diabetes mellitus, Biliary atresia, Cholestasis, Acholic stools, Hyperbilirub...	OMIM:615710
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive	Hyperglycemia	OMIM:618970
Farber Disease	Respiratory distress, Short stature, Intrahepatic cholestasis with episodic jaundice, Nodular pat...	ORPHA:333
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Cryptorchidism, Elevated circulating thyroid-stimulating horm...	OMIM:618183
Marfan Syndrome	Arthralgia/arthritis, Spontaneous pneumothorax, Emphysema, Meningocele, Pulmonary artery dilatation	ORPHA:558
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Recurrent sinopulmonary infections, Enterocolitis, Ulcerative colitis, Decreased proportion of cl...	OMIM:614878
7Q11.23 Microduplication Syndrome	Inguinal hernia, Collectionism, Hyperactivity, Congenital diaphragmatic hernia, Aggressive behavi...	ORPHA:96121
Aicardi-Goutieres Syndrome 7	Hemolytic anemia, Atrophic gastritis, Generalized lymphadenopathy, Skin rash, Pneumonia, Chilblai...	OMIM:615846
Mannosidosis, Alpha B, Lysosomal	Hepatomegaly, Splenomegaly, Vacuolated lymphocytes, Decreased circulating antibody level, Growth ...	OMIM:248500
Viss Syndrome	Chronic gastritis, Short stature, Eczema, Dyspnea, Asthma, Pneumothorax, Increased circulating Ig...	OMIM:619472
Immunodeficiency 97 With Autoinflammation	Splenomegaly, Hypertriglyceridemia, Increased circulating ferritin concentration, Hepatosplenomegaly	OMIM:619802
Agammaglobulinemia 9, Autosomal Recessive	Seborrheic dermatitis, Agammaglobulinemia, Recurrent bacterial infections, Absent circulating B c...	OMIM:619693
Bardet-Biedl Syndrome 8	Hypogonadism, Obesity	OMIM:615985
Amed Syndrome, Digenic	Acute myeloid leukemia, Short stature, Adrenal hypoplasia, Thrombocytopenia, Hypoplasia of the ut...	OMIM:619151
Mccune-Albright Syndrome	Hyperthyroidism, Precocious puberty, Hepatitis, Ovarian cyst, Increased circulating cortisol leve...	ORPHA:562
Zygomycosis	Fasciitis, Sinusitis, Acute infectious pneumonia, Colitis, Cough, Neutropenia, Nephritis, Infecti...	ORPHA:73263
Lymphoid Interstitial Pneumonia	Multiple pulmonary cysts, Hepatomegaly, Skin rash, Eczema, Crackles, Respiratory tract infection,...	ORPHA:79128
Ataxia With Vitamin E Deficiency	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma	OMIM:277460
46,Xy Sex Reversal 7	Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex...	OMIM:233420
Alpha-Mannosidosis, Adult Form	Pancytopenia, Pneumonia, Hepatosplenomegaly, Recurrent infections, Recurrent gastroenteritis	ORPHA:309288
13Q12.3 Microdeletion Syndrome	Hyperactivity, Congenital diaphragmatic hernia, Cryptorchidism, Obesity, Camptodactyly, Failure t...	ORPHA:412035
Infantile Systemic Hyalinosis	Severe short stature, Polycystic ovaries, Growth delay, Recurrent bacterial infections, Abnormali...	ORPHA:2176
Spondyloenchondrodysplasia With Immune Dysregulation	Recurrent respiratory infections, Short stature, Pneumonia, Autoimmune thrombocytopenia, Neutrope...	OMIM:607944
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Decreased circulating cortisol level, Severe B lymphocytopenia, Decreased response to growth horm...	ORPHA:293978
Aromatase Deficiency	Macroorchidism, postpubertal, Eunuchoid habitus, Hypergonadotropic hypogonadism, Enlarged polycys...	ORPHA:91
Short-Rib Thoracic Dysplasia 12	Hepatomegaly, Atelectasis, Splenomegaly, Anencephaly, Respiratory insufficiency, Periportal fibro...	OMIM:269860
Beta-Ketothiolase Deficiency	Hepatomegaly, Hypoglycemia, Anorexia, Hyperammonemia, Weight loss, Agitation, Hyperuricemia, Oral...	ORPHA:134
Primary Sclerosing Cholangitis	Abnormal eosinophil morphology, Uveitis, Hypoalbuminemia, Hepatic fibrosis, Neoplasm of the gallb...	ORPHA:171
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Patent ductus arteriosus, Arteria lusoria, Abnormal aortic arch morphology, Tetralogy of Fallot, ...	ORPHA:99050
Spondyloenchondrodysplasia	Pancytopenia, Autoimmune hemolytic anemia, Short stature, Pneumonia, Decreased response to growth...	ORPHA:1855
Adenohypophysitis	Chronic lymphocytic meningitis, Decreased circulating cortisol level, Decreased female libido, Re...	ORPHA:95512
Sporadic Creutzfeldt-Jakob Disease	Respiratory failure requiring assisted ventilation, Recurrent aspiration pneumonia, Sepsis, Recur...	ORPHA:204
Nestor-Guillermo Progeria Syndrome	Sparse scalp hair, Alopecia, Lipoatrophy, Sparse eyelashes, Decreased serum leptin, Sparse eyebro...	OMIM:614008
X-Linked Severe Congenital Neutropenia	Monocytopenia, Recurrent bacterial infections, Neutropenia	ORPHA:86788
Panhypophysitis	Decreased circulating cortisol level, Reduced circulating prolactin concentration, Abnormal size ...	ORPHA:95513
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypercholesterolemia, Hypertriglyceridemia, Decreased testicular size, Nail dystrophy	OMIM:610644
Hereditary Pulmonary Alveolar Proteinosis	Abnormal circulating protein concentration, Respiratory distress, Respiratory failure requiring a...	ORPHA:264675
Chronic Visceral Acid Sphingomyelinase Deficiency	Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased serum insu...	ORPHA:77293
Slc35A1-Cdg	Respiratory distress, Pneumonia, Giant platelets, Hypoxemia, Neutropenia, Abnormal platelet granu...	ORPHA:238459
Pseudohypoparathyroidism, Type Ia	Pseudohypoparathyroidism, Obesity, Hyperphosphatemia, Elevated circulating parathyroid hormone le...	OMIM:103580
Keppen-Lubinsky Syndrome	Lack of facial subcutaneous fat, Decreased serum leptin, Flexion contracture, Absence of subcutan...	OMIM:614098
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type	Aggressive behavior, Abnormal hair whorl, Synophrys, Increased body weight, Low posterior hairlin...	OMIM:300860
Severe Acute Respiratory Syndrome	Respiratory distress, Respiratory failure requiring assisted ventilation, Diabetes mellitus, Dysp...	ORPHA:140896
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Elevated circulati...	ORPHA:572333
Acquired Aneurysmal Subarachnoid Hemorrhage	Addictive alcohol use, Hyperglycemia, Hypercholesterolemia, Hypopituitarism, Hypothyroidism	ORPHA:90065
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Glycosuria, Diabetes mellitus, Hypoglycemia, Large for gestational age	OMIM:616026
Complement Factor I Deficiency	Recurrent urinary tract infections, Recurrent skin infections, Glomerulonephritis, Recurrent Haem...	OMIM:610984
Marfan Syndrome	Pulmonary artery dilatation, Emphysema, Pneumothorax, Premature osteoarthritis	OMIM:154700
Multiple Endocrine Neoplasia Type 4	Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir...	ORPHA:276152
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Restlessness, Aggressive behavior, Cryptorchidism, Self-mutilation, Fine hair, Sparse hair, Polyp...	ORPHA:251028
9Q31.1Q31.3 Microdeletion Syndrome	Thick hair, Highly arched eyebrow, Overweight, Type II diabetes mellitus, Hypercholesterolemia	ORPHA:401923
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Ectopic posterior pituitary, Anterior pituitary hypoplasia, Decreased response to growth hormone ...	ORPHA:226307
Pulmonary Alveolar Microlithiasis	Bronchitis, Nonproductive cough, Tachypnea, Gonadal calcification, Increased circulating surfacta...	ORPHA:60025
Waardenburg Syndrome Type 3	Atelectasis	ORPHA:896
Wiedemann-Rautenstrauch Syndrome	Reduced subcutaneous adipose tissue, Sparse scalp hair, Absent eyebrow, Hypertriglyceridemia, Lip...	OMIM:264090
Pagod Syndrome	Encephalocele, Death in infancy, Short stature, Spina bifida, Abnormality of the spleen, Meningoc...	ORPHA:991
22Q11.2 Deletion Syndrome	Impaired T cell function, Abnormal lung lobation, Hypoplasia of the thymus, Abnormality of the ut...	ORPHA:567
Pyruvate Carboxylase Deficiency	Hypoglutaminemia, Hepatomegaly, Increased serum pyruvate, Hyperglutamatemia, Failure to thrive, H...	ORPHA:3008
Liver Disease, Severe Congenital	Chronic gastritis, Biliary hyperplasia, Sepsis, Leukopenia, Lymphocytosis, Cough, Elevated hepati...	OMIM:619991
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Polyphagia	OMIM:607485
Fowler Urethral Sphincter Dysfunction Syndrome	Acne, Polycystic ovaries, Menorrhagia, Oligomenorrhea, Abnormality of the ovary, Amenorrhea	ORPHA:2795
Cushing Disease	Increased urinary cortisol level, Sparse scalp hair, Adrenal hyperplasia, Dorsocervical fat pad, ...	ORPHA:96253
Leprechaunism	Reduced subcutaneous adipose tissue, Hepatomegaly, Enlarged ovaries, Insulin resistance, Hyperins...	ORPHA:508
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypoparathyroidism, Hypertriglyceridemia, Hypercalcemia, Precocious puberty, Obesity	ORPHA:369837
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Omphalocele, Small for gestational age, Large for gestational age, Overgrowth, Umbilical hernia	ORPHA:254534
Cushing Syndrome Due To Ectopic Acth Secretion	Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy...	ORPHA:99889
Tsh-Secreting Pituitary Adenoma	Elevated circulating thyroid-stimulating hormone concentration, Male hypogonadism, Hyperthyroidis...	ORPHA:91347
Glycogen Storage Disease Ib	Hepatomegaly, Pancreatic fibrosis, Short stature, Hepatocellular carcinoma, Splenomegaly, Neutrop...	OMIM:232220
Ectodermal Dysplasia And Immunodeficiency 1	Dysgammaglobulinemia, Increased circulating IgA level, Reduced natural killer cell activity, Seve...	OMIM:300291
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Recurrent herpes, T lymphocytopenia, Infectious encephalitis, Short stature, Autoimmune thrombocy...	ORPHA:391487
Mpi-Cdg	Failure to thrive, Hypothyroidism, Hyperinsulinemic hypoglycemia	ORPHA:79319
Cutis Laxa, Autosomal Recessive, Type Ib	Pulmonary artery dilatation, Emphysema, Pulmonary artery aneurysm	OMIM:614437
Coffin-Siris Syndrome	Hypospadias, Postnatal growth retardation, Cryptorchidism, Recurrent upper respiratory tract infe...	ORPHA:1465
Autoimmune Polyendocrinopathy Type 4	Macrocytic anemia, Antiphospholipid antibody positivity, Autoimmunity, Autoimmune thrombocytopeni...	ORPHA:227990
Lujo Hemorrhagic Fever	Respiratory distress, Maculopapular exanthema, Skin rash, Elevated circulating C-reactive protein...	ORPHA:319213
Leukocyte Adhesion Deficiency, Type I	Recurrent gram-negative bacterial infections, Osteomyelitis, Recurrent staphylococcal infections,...	OMIM:116920
Glucocorticoid Resistance, Generalized	Irregular menstruation, Increased circulating ACTH level, Increased circulating cortisol level, I...	OMIM:615962
Heterotaxy, Visceral, 8, Autosomal	Aortopulmonary collateral arteries, Right aortic arch, Pulmonary artery atresia, Double outlet ri...	OMIM:617205
Focal Segmental Glomerulosclerosis 1	Hyperlipidemia, Hypoalbuminemia	OMIM:603278
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia	Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Hypoplasia of the...	OMIM:614842
Pituitary Adenoma 4, Acth-Secreting	Impaired glucose tolerance, Pituitary adenoma, Obesity, Increased circulating ACTH level, Glucose...	OMIM:219090
Griscelli Syndrome Type 2	Hepatomegaly, Hypopigmentation of hair, Splenomegaly, Jaundice, Hyperlipidemia, Premature graying...	ORPHA:79477
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Hepatomegaly, Splenomegaly, Recurrent upper respiratory tract infections, Restrictive ventilatory...	OMIM:620296
Igg4-Related Kidney Disease	Elevated circulating C-reactive protein concentration, Lymphadenitis, Abnormal lung morphology, D...	ORPHA:449395
Sotos Syndrome	Hypospadias, Phimosis, Small cell lung carcinoma, Cryptorchidism, Decreased fertility, Hydrocele ...	ORPHA:821
Renal And Mullerian Duct Hypoplasia	Hydrocele testis, Severe postnatal growth retardation, Anteriorly displaced urethral meatus, Apla...	OMIM:266810
Isolated Permanent Neonatal Diabetes Mellitus	Failure to thrive, Neonatal insulin-dependent diabetes mellitus, Weight loss, Lower-limb joint co...	ORPHA:99885
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Hypoplasia of the uterus, Azoospermia, Bicornuate uterus, Short stature	OMIM:601076
Orofaciodigital Syndrome Viii	Recurrent aspiration pneumonia, Short stature	OMIM:300484
46,Xy Sex Reversal 4	Hypergonadotropic hypogonadism, Agonadism, Sex reversal, Hypoplasia of the uterus, Gonadal dysgen...	OMIM:154230
Leopard Syndrome 1	Short stature, Hypospadias, Cryptorchidism, Micropenis, Hypoplasia of the ovary, Aplasia of the o...	OMIM:151100
Gm1 Gangliosidosis	Recurrent respiratory infections, Short stature, Splenomegaly, Hepatosplenomegaly, Abnormality of...	ORPHA:354
Alg9-Cdg	Hepatomegaly, Rhizomelia, Asthma, Abnormal lung lobation, Periportal fibrosis, Bicornuate uterus,...	ORPHA:79328
Nephrotic Syndrome, Type 1	Small for gestational age, Hypothyroidism, Hyperlipidemia, Hypoalbuminemia, Hypoproteinemia	OMIM:256300
Drug Reaction With Eosinophilia And Systemic Symptoms	Skin rash, Eosinophilia, Pustule, Dyspnea, Myocarditis, Thyroiditis, Hepatitis, Lymphadenopathy, ...	ORPHA:139402
Wiedemann-Rautenstrauch Syndrome	Decreased response to growth hormone stimulation test, Synophrys, Sparse hair, Hepatic steatosis,...	ORPHA:3455
Sheehan Syndrome	Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Reduced circulating prolactin c...	ORPHA:91355
Chromosome 22Q13 Duplication Syndrome	Attention deficit hyperactivity disorder, Polyphagia, Impulsivity	OMIM:615538
Cystic Fibrosis	Recurrent Aspergillus infections, Recurrent respiratory infections, Absent vas deferens, Sinusiti...	ORPHA:586
Autoimmune Polyendocrinopathy Type 3	Macrocytic anemia, Antiphospholipid antibody positivity, Autoimmunity, Autoimmune thrombocytopeni...	ORPHA:227982
Acromesomelic Dysplasia 3	Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Primary amenorrhe...	OMIM:609441
Pituitary Dermoid And Epidermoid Cysts	Enlarged pituitary gland, Neoplasm of the anterior pituitary, Panhypopituitarism, Oligozoospermia...	ORPHA:91351
Helsmoortel-Van Der Aa Syndrome	Hyperactivity, Decreased response to growth hormone stimulation test, Cryptorchidism, Abnormal re...	OMIM:615873
Hypokalemic Periodic Paralysis	Postprandial hyperglycemia, Episodic hypokalemia, Adrenocortical adenoma, Mildly elevated creatin...	ORPHA:681
Interstitial Cystitis	Dyspareunia, Abnormal labia morphology, Abnormality of the menstrual cycle, Urinary bladder infla...	ORPHA:37202
Blepharophimosis, Ptosis, And Epicanthus Inversus	Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Ir...	OMIM:110100
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Hypoparathyroidism, Septate vagina, Uterus didelphys, Primary amenorrhea, Aplasia of the vagina, ...	OMIM:146255
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Bilateral cryptorchidism, Recurrent pneumonia, Recurrent aspiration pneumonia, Short stature	OMIM:300472
Immunodeficiency 67	Transient neutropenia, Liver abscess, Recurrent staphylococcal infections, Increased circulating ...	OMIM:607676
Shigellosis	Pneumonia, Abscess, Myocarditis, Peritonitis, Leukocytosis, Thrombocytopenia, Sepsis, Uveitis, Ul...	ORPHA:810
1P36 Deletion Syndrome	Abnormal eyebrow morphology, Camptodactyly of finger, Cryptorchidism, Abnormality of the spleen, ...	ORPHA:1606
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Normocytic anemia, Skin rash, Pneumonia, Nodular regenerative hyperplasia of liver, Sepsis, Normo...	ORPHA:247691
Parenteral Nutrition-Associated Cholestasis	Hepatomegaly, Small for gestational age, Portal hypertension, Biliary hyperplasia, Splenomegaly, ...	ORPHA:567983
Oculocerebrorenal Syndrome Of Lowe	Recurrent respiratory infections, Hyperparathyroidism, Death in infancy, Short stature, Atelectas...	ORPHA:534
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Hypoventilation, Myositis, Atelectasis, Respiratory insufficiency, Highly elevated creatine kinas...	ORPHA:258
Chops Syndrome	Short stature, Splenomegaly, Cryptorchidism, Anomalous pulmonary venous return, Aspiration pneumo...	OMIM:616368
46,Xx Ovotesticular Difference Of Sex Development	Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H...	ORPHA:2138
Hydrolethalus Syndrome 1	Accessory spleen, Hypospadias, Abnormal cortical gyration, Bifid uterus, Anencephaly, Abnormal lu...	OMIM:236680
Mandibuloacral Dysplasia With Type A Lipodystrophy	Abnormal eyebrow morphology, Alopecia, Absent eyelashes, Hyperlipidemia, Flexion contracture, Ins...	ORPHA:90153
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Hyperglycemia, Failure to thrive, Hypoglycemia, Hyperammonemia	OMIM:615453
Juvenile Neuronal Ceroid Lipofuscinosis	Apnea, Episodic tachypnea, Aspiration pneumonia	ORPHA:79264
Cystic Fibrosis	Male infertility, Hepatomegaly, Reduced forced expiratory volume in one second, Reduced forced vi...	OMIM:219700
Neu-Laxova Syndrome 1	Spina bifida, Bifid uterus, Cryptorchidism, Stillbirth, Lissencephaly, Short umbilical cord, Smal...	OMIM:256520
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Hepatomegaly, Failure to thrive, Limb joint contracture, Small for gestational age, Decreased res...	ORPHA:404454
Roifman-Chitayat Syndrome	Umbilical hernia, Pneumonia, Arthritis	OMIM:613328
Glycogen Storage Disease Ia	Hepatomegaly, Hypoglycemia, Hyperlipidemia, Delayed puberty, Xanthelasma, Hyperuricemia, Fasting ...	OMIM:232200
Sotos Syndrome	Neonatal hypoglycemia, Aggressive behavior, Sparse eyebrow, Cryptorchidism, Increased body weight...	OMIM:117550
Alagille Syndrome 1	Hypertriglyceridemia, Hepatocellular carcinoma, Cholestasis, Reduced number of intrahepatic bile ...	OMIM:118450
Ataxia-Oculomotor Apraxia 4	Hypercholesterolemia, Hypoalbuminemia, Obesity, Elevated circulating alpha-fetoprotein concentration	OMIM:616267
Alström Syndrome	Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h...	ORPHA:64
Hemophagocytic Syndrome Associated With An Infection	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H...	ORPHA:158048
Necrotizing Enterocolitis	Hyponatremia, Small for gestational age, Peritonitis, Abnormal glucose homeostasis, Hyperglycemia	ORPHA:391673
Degcags Syndrome	Leukopenia, Iron deficiency anemia, Intrauterine growth retardation, Hepatomegaly, Hypospadias, C...	OMIM:619488
Mucopolysaccharidosis, Type Vi	Hepatomegaly, Short stature, Pneumonia, Splenomegaly, Recurrent upper respiratory tract infection...	OMIM:253200
Pancreatitis, Hereditary	Diabetes mellitus, Pancreatic calcification, Pancreatic pseudocyst, Steatorrhea, Pancreatitis, Ex...	OMIM:167800
Tangier Disease	Hypertriglyceridemia, Hypocholesterolemia, Nail dystrophy, Hepatosplenomegaly	ORPHA:31150
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Recurrent respiratory infections, Tracheobronchial leiomyomatosis, Vaginal neoplasm, Keratitis, D...	ORPHA:1018
Malakoplakia	Inflammatory abnormality of the skin, Skin rash, Follicular hyperplasia, Orchitis, Abnormality of...	ORPHA:556
Carney Complex	Hepatocellular carcinoma, Increased body weight, Thyroid carcinoma, Papillary thyroid carcinoma, ...	ORPHA:1359
Obesity-Hypoventilation Syndrome	Obesity	OMIM:257500
Meckel Syndrome 14	Occipital encephalocele, Pneumothorax, Cardiorespiratory arrest, Hepatic fibrosis, Pulmonary hypo...	OMIM:619879
Cornelia De Lange Syndrome 1	Short stature, Pneumonia, Hypospadias, Cryptorchidism, Hypoplastic labia majora, Hypoplastic nipp...	OMIM:122470
Cleft Velum	Recurrent otitis media, Aspiration pneumonia	ORPHA:99772
Schinzel-Giedion Syndrome	Respiratory distress, Streak ovary, Hypospadias, Myeloid leukemia, Recurrent pneumonia, Central h...	ORPHA:798
Marshall-Smith Syndrome	Short stature, Apnea, Bilateral cryptorchidism, Cryptorchidism, Recurrent upper respiratory tract...	OMIM:602535
Infection-Related Hemolytic Uremic Syndrome	Brain abscess, Hemolytic anemia, Diabetes mellitus, Pneumonia, Respiratory tract infection, Dyspn...	ORPHA:544482
Mohr-Tranebjaerg Syndrome	Agammaglobulinemia, Aspiration pneumonia	ORPHA:52368
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Pneumonia, Restrictive ventilatory defect, Elevated circulating creatine kinase concentration	OMIM:253700
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Hypoplasia of the vagina, Clitoral hypertrophy, Short stature, Congenital adrenal hyperplasia, Am...	OMIM:202010
Hennekam-Beemer Syndrome	Mastocytosis, Short stature, Pneumonia, Respiratory insufficiency	ORPHA:2135
Mucoepithelial Dysplasia, Hereditary	Pneumonia, Eosinophilia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Keratoconjunctiv...	OMIM:158310
Generalized Glucocorticoid Resistance Syndrome	Increased urinary cortisol level, Adrenal hyperplasia, Acne, Precocious puberty, Increased circul...	ORPHA:786
Gaucher Disease, Type Ii	Hepatomegaly, Death in infancy, Apnea, Splenomegaly, Thrombocytopenia, Stridor, Cough, Bronchioli...	OMIM:230900
Cole Disease	Hyperglycemia, Abnormal blood phosphate concentration	OMIM:615522
Carnitine Palmitoyltransferase Ii Deficiency	Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit...	ORPHA:157
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Episcleritis, Recurrent respiratory infections, Severe short stature, Eczema, Keratitis, Cryptorc...	ORPHA:2273
Miller-Dieker Lissencephaly Syndrome	Cryptorchidism, Gray matter heterotopia, Lissencephaly, Intrauterine growth retardation, Pachygyr...	OMIM:247200
Woodhouse-Sakati Syndrome	Decreased serum insulin-like growth factor 1, Diabetes mellitus, Hypogonadotropic hypogonadism, H...	OMIM:241080
Genitourinary And/Or Brain Malformation Syndrome	Streak ovary, Hypospadias, Cryptorchidism, Uterus didelphys, Gray matter heterotopia, Gonadal dys...	OMIM:618820
Opitz Gbbb Syndrome	Bifid scrotum, Enlarged ovaries, Hypospadias, Short stature, Cryptorchidism, Stridor, Bicornuate ...	ORPHA:2745
Alpha-Mannosidosis, Infantile Form	Recurrent urinary tract infections, Pancytopenia, Pneumonia, Recurrent infections, Hepatosplenome...	ORPHA:309282
Atrial Septal Defect, Coronary Sinus Type	Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Anomalous pulmonary venous return, R...	ORPHA:99104
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Aspiration pneumonia	ORPHA:314655
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Nail-biting, Aggressive behavior, Hair-pulling, Polyphagia, Self-injurious behavior, Fixated inte...	OMIM:620330
Cardiac-Urogenital Syndrome	Bifid scrotum, Accessory spleen, Ambiguous genitalia, Unilateral cryptorchidism, Tracheomalacia, ...	OMIM:618280
Atrial Septal Defect, Ostium Secundum Type	Orthopnea, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance, Dyspnea, ...	ORPHA:99103
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Short stature, Leukocytosis, Hypoplasia of the ovary, Intrauterine growth retardation, Micropenis...	OMIM:619321
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit...	ORPHA:228308
Limb-Mammary Syndrome	Absent nipple, Psoriasiform dermatitis, Chronic irritative conjunctivitis, Primary amenorrhea, Bi...	ORPHA:69085
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypoparathyroidism, Abnormality of T cell physiology, Diabetes mellitus, Psoriasiform dermatitis,...	ORPHA:2237
Adult-Onset Autosomal Dominant Leukodystrophy	Erectile dysfunction, Recurrent urinary tract infections, Impotence, Aspiration pneumonia	ORPHA:99027
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Recurrent respiratory infections, Occipital encephalocele, Short stature, Hypospadias, Supernumer...	ORPHA:397715
Heart Defects, Congenital, And Other Congenital Anomalies	Absent gallbladder, Inguinal hernia, Failure to thrive, Diabetes mellitus, Congenital diaphragmat...	OMIM:600001
Microcephaly 20, Primary, Autosomal Recessive	Short stature, Simplified gyral pattern, Microlissencephaly, Hypoplasia of the uterus, Intrauteri...	OMIM:617914
Complement Component 5 Deficiency	Recurrent Neisserial infections, Generalized seborrheic dermatitis, Recurrent meningococcal disease	OMIM:609536
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Neonatal death, Hepatomegaly, Aspiration pneumonia	OMIM:619167
Thrombocytopenia-Absent Radius Syndrome	Death in infancy, Short stature, Eosinophilia, Spina bifida, Seborrheic dermatitis, Pancreatic cy...	OMIM:274000
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3	Pneumonia	OMIM:608033
46,Xy Sex Reversal 3	Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Sex reversal, Hypoplasia...	OMIM:612965
Non-Acquired Panhypopituitarism	Pituitary dwarfism, Ectopic posterior pituitary, Short stature, Decreased response to growth horm...	ORPHA:90695
African Trypanosomiasis	Conjunctivitis, Iritis, Hepatomegaly, Abnormality of the endocrine system, Abnormality of renin-a...	ORPHA:3385
Mayer-Rokitansky-Kuster-Hauser Syndrome	Hypoplasia of the uterus, Aplasia of the vagina, Amenorrhea	OMIM:277000
Fontaine Progeroid Syndrome	Death in infancy, Small scrotum, Short stature, Absent nipple, Periventricular heterotopia, Crypt...	OMIM:612289
Lissencephaly Due To Lis1 Mutation	Anterior predominant thick cortex pachygyria, Aspiration pneumonia, Pachygyria, Posterior predomi...	ORPHA:95232
Phocomelia, Schinzel Type	Hypoplasia of penis, Cryptorchidism, Meningocele, Disproportionate short stature, Aplasia of the ...	ORPHA:2879
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Respiratory distress, Repeated pneumothoraces, Postnatal growth retardation, Atelectasis, Respira...	ORPHA:536467
Chromosome 17Q12 Deletion Syndrome	Recurrent urinary tract infections, Short stature, Cryptorchidism, Ovarian cyst, Aplasia of the v...	OMIM:614527
Dopamine Beta-Hydroxylase Deficiency	Insulin resistance, Hyperinsulinemia, Hypoglycemia	ORPHA:230
Mucopolysaccharidosis Type 3	Recurrent sinopulmonary infections, Hepatomegaly, Adenoiditis, Respiratory tract infection, Splen...	ORPHA:581
Lumbar Syndrome	Bifid scrotum, Hypospadias, Spina bifida, Bifid uterus, Cryptorchidism, Myelomeningocele, Hypopla...	ORPHA:83628
Chromosome 1P36 Deletion Syndrome, Distal	Camptodactyly of finger, Aggressive behavior, Cryptorchidism, Synophrys, Polyphagia, Obesity, Dys...	OMIM:607872
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Dyspnea, Thrombocytopenia, Hepatic necrosis, Leukopenia, Interstitial pneumoniti...	OMIM:127550
Relapsing Polychondritis	Episcleritis, Pericarditis, Chondritis of pinna, Keratitis, Atelectasis, Dyspnea, Myocarditis, He...	ORPHA:728
Amoebiasis Due To Free-Living Amoebae	Unusual skin infection, Sinusitis, Pneumonia, Respiratory tract infection, Pustule, Abnormality o...	ORPHA:68
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Hepatomegaly, Postnatal growth retardation, Hepatic hemangioma, Penile hypospadias, Recurrent asp...	ORPHA:73230
Fanconi Anemia, Complementation Group L	Growth delay, Bone marrow hypocellularity, Aplasia of the uterus, Intrauterine growth retardation...	OMIM:614083
Coffin-Siris Syndrome 1	Recurrent respiratory infections, Short stature, Hypospadias, Postnatal growth retardation, Crypt...	OMIM:135900
Combined Oxidative Phosphorylation Deficiency 25	Reduced circulating growth hormone concentration, Short stature, Aspiration pneumonia	OMIM:616430
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency	Pancreatitis, Aspiration pneumonia	ORPHA:431361
Hemorrhagic Fever-Renal Syndrome	Respiratory distress, Pneumonia, Epistaxis, Glomerulonephritis, Dyspnea, Severe infection, Leukoc...	ORPHA:340
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Transient hypophosphatemia, Hyperthyroidism, Thyrotoxicosis with toxic sing...	ORPHA:79102
Proximal Spinal Muscular Atrophy	Hypoventilation, Neonatal respiratory distress, Recurrent infections due to aspiration, Respirato...	ORPHA:70
Severe Generalized Junctional Epidermolysis Bullosa	Respiratory distress, Recurrent urinary tract infections, Recurrent skin infections, Pneumonia, D...	ORPHA:79404
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Abnormal penis morphology, Respiratory distress, Respiratory failure requiring assisted ventilati...	ORPHA:95455
Classic Pantothenate Kinase-Associated Neurodegeneration	Aspiration pneumonia, Cough	ORPHA:216866
Bickerstaff Brainstem Encephalitis	Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Respiratory tract inf...	ORPHA:79138
Gm1 Gangliosidosis Type 1	Intrauterine growth retardation, Aspiration pneumonia, Hepatosplenomegaly	ORPHA:79255
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Micropeni...	OMIM:201750
Infantile Neuroaxonal Dystrophy	Apneic episodes in infancy, Aspiration pneumonia	ORPHA:35069
Geleophysic Dysplasia 3	Hepatomegaly, Short stature, Pneumonia, Dyspnea, Respiratory failure	OMIM:617809
Hutchinson-Gilford Progeria Syndrome	Absent eyebrow, Female hypogonadism, Alopecia totalis, Decreased serum leptin, Insulin resistance...	ORPHA:740
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Short stature, Decreased response to growth hormone stimulation test, Growth delay, Hypoplasia of...	OMIM:615866
Glycogen Storage Disease Ic	Hepatomegaly, Hypoglycemia, Chronic pancreatitis, Hyperlipidemia, Xanthelasma, Hyperuricemia, Hep...	OMIM:232240
Perlman Syndrome	Hypoglycemia, Congenital diaphragmatic hernia, Large for gestational age, Cryptorchidism, Pancrea...	OMIM:267000
Tay-Sachs Disease	Precocious puberty, Increased serum beta-hexosaminidase, Aspiration pneumonia, Hepatosplenomegaly	ORPHA:845
Aapoaiv Amyloidosis	Hyperlipidemia, Diabetes mellitus, Elevated circulating creatinine concentration	ORPHA:439232
Beckwith-Wiedemann Syndrome	Omphalocele, Hepatomegaly, Inguinal hernia, Adrenocortical cytomegaly, Hypoglycemia, Congenital d...	ORPHA:116
46,Xx Sex Reversal 2	Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal...	OMIM:278850
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Recurrent respiratory infections, Recurrent urinary tract infections, Short stature, Pneumonia, H...	ORPHA:353281
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Hypertyrosinemia, Brittle hair, Hypoglycemia, Cholangitis, Microvesicular hepatic steatosis, Chol...	OMIM:124000
Orofaciodigital Syndrome Ix	Recurrent aspiration pneumonia, Short stature	OMIM:258865
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Type I diabetes mellitus, Precocious puberty, Dentinogenesis imperfecta, Obesity	OMIM:619269
Glycogen Storage Disease Due To Acid Maltase Deficiency	Respiratory distress, Orthopnea, Hepatomegaly, Elevated circulating creatine kinase concentration...	ORPHA:365
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Inguinal hernia, Small for gestational age, Hypoglycemia, Highly arched eyebrow, Microvesicular h...	OMIM:220111
Kabuki Syndrome 1	Hemolytic anemia, Short stature, Premature thelarche, Autoimmune thrombocytopenia, Postnatal grow...	OMIM:147920
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Hepatomegaly, Short stature, Seborrheic dermatitis, Splenomegaly, Micronodular cirrhosis, Aspirat...	OMIM:301072
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Diabetes mellitus, Elevated circulating creatine kinase concentration, Splenomegaly...	ORPHA:565612
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Recurrent respiratory infections, Recurrent urinary tract infections, Short stature, Pneumonia, H...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Recurrent respiratory infections, Recurrent urinary tract infections, Short stature, Pneumonia, H...	ORPHA:353277
Pruritic Urticarial Papules And Plaques Of Pregnancy	Increased body weight	ORPHA:64745
Exstrophy-Epispadias Complex	Bifid scrotum, Spina bifida, Bifid uterus, Epispadias, Cryptorchidism, Cystocele, Penoscrotal tra...	ORPHA:322
Meckel Syndrome 12	Hypoplasia of the uterus, Intrauterine growth retardation, Vaginal atresia	OMIM:616258
Wolf-Hirschhorn Syndrome	Accessory spleen, Hypospadias, Short stature, Precocious puberty, Cryptorchidism, Biliary tract a...	OMIM:194190
Arboleda-Tham Syndrome	Respiratory distress, Recurrent respiratory infections, Recurrent urinary tract infections, Neona...	OMIM:616268
Dend Syndrome	Hyperglycemia, Elevated hemoglobin A1c	ORPHA:79134
Acute Radiation Syndrome	Inflammatory abnormality of the skin, Interstitial pneumonitis, Granulocytopenia, Lymphopenia, Th...	ORPHA:454831
Testicular Agenesis	Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci...	ORPHA:325124
Oeis Complex	Bifid uterus, Epispadias, Myelomeningocele, Ambiguous genitalia, female, Cryptorchidism, Vesicova...	OMIM:258040
Renal Cysts And Diabetes Syndrome	Diabetes mellitus, Hypospadias, Maturity-onset diabetes of the young, Exocrine pancreatic insuffi...	OMIM:137920
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Aplasia of the vagina, Pulmonary hypoplasia, Aplasia of the uterus, Absent external genitalia	OMIM:271520
Plague	Respiratory distress, Chapped lip, Hepatomegaly, Skin rash, Erythema nodosum, Lymphadenitis, Sple...	ORPHA:707
Peters Plus Syndrome	Rhizomelia, Short stature, Hypospadias, Postnatal growth retardation, Cryptorchidism, Spina bifid...	ORPHA:709
Myoectodermal Gonadal Dysgenesis Syndrome	Accessory spleen, Short stature, Elevated circulating luteinizing hormone level, Hypoplasia of th...	OMIM:618419
Combined Deficiency Of Factor V And Factor Viii	Hyperlipidemia, Hyperuricemia	ORPHA:35909
Neuroleptic Malignant Syndrome	Elevated circulating creatine kinase concentration, Pulmonary embolism, Leukocytosis, Sepsis, Asp...	ORPHA:94093
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Hypoventilation, Short stature, Apnea, Breathing dysregulation, Abnormality of the endocrine syst...	ORPHA:438213
Cholera	Tachypnea, Miscarriage, Aspiration pneumonia, Hyperventilation	ORPHA:173
X-Linked Dystonia-Parkinsonism	Aspiration pneumonia	ORPHA:53351
Thrombocytopenia-Absent Radius Syndrome	Thrombocytopenia, Aplasia of the uterus	ORPHA:3320
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Curly hair, Decreased response to growth hormone stimulation test, Highly arched eyebrow, Thick h...	ORPHA:444077
Mercury Poisoning	Respiratory distress, Dyspnea, Interstitial pneumonitis, Respiratory failure	ORPHA:330021
Linear Skin Defects With Multiple Congenital Anomalies 1	Short stature, Hypospadias, Ovotestis, Hypoplasia of the uterus, Chordee, Micropenis, Clitoral hy...	OMIM:309801
Alobar Holoprosencephaly	Central apnea, Short stature, Decreased response to growth hormone stimulation test, Diabetes ins...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Central apnea, Short stature, Decreased response to growth hormone stimulation test, Diabetes ins...	ORPHA:93926
Lobar Holoprosencephaly	Central apnea, Short stature, Decreased response to growth hormone stimulation test, Diabetes ins...	ORPHA:93924
Semilobar Holoprosencephaly	Central apnea, Short stature, Decreased response to growth hormone stimulation test, Diabetes ins...	ORPHA:220386
Chand Syndrome	Atelectasis, Imperforate hymen	ORPHA:1401
Congenital Fiber-Type Disproportion Myopathy	Recurrent respiratory infections, Hypercapnia, Respiratory insufficiency due to muscle weakness, ...	ORPHA:2020
Scorpion Envenomation	Restlessness, Acute pancreatitis, Increased circulating NT-proBNP concentration, Glycosuria, Hypo...	ORPHA:466677
Atelis Syndrome 2	Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia	OMIM:620185
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:235400
Niemann-Pick Disease Type C	Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Abnormal lung morphology, Jaundice, Respirato...	ORPHA:646
Hypermobile Ehlers-Danlos Syndrome	Apnea, Abnormality of the menstrual cycle, Osteoarthritis, Cystocele, Decreased fertility, Kerato...	ORPHA:285
Popliteal Pterygium Syndrome	Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,...	OMIM:119500
Hereditary Sensory And Autonomic Neuropathy Type 4	Fasciitis, Osteomyelitis, Abscess, Growth delay, Recurrent Staphylococcus aureus infections, Apla...	ORPHA:642
Pontocerebellar Hypoplasia Type 7	Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgenesis, Microphallus, Absent penis, Aplasi...	ORPHA:284339
Vascular Ehlers-Danlos Syndrome	Uterine prolapse, Short stature, Hypospadias, Cryptorchidism, Osteoarthritis, Pneumothorax, Cysto...	ORPHA:286
Pmm2-Cdg	Respiratory distress, Pericarditis, Hypogonadotropic hypogonadism, Elevated circulating growth ho...	ORPHA:79318
Townes-Brocks Syndrome 2	Rectovaginal fistula, Spina bifida occulta, Hypospadias, Bifid uterus	OMIM:617466
Pallister-Killian Syndrome	Small scrotum, Rhizomelia, Hypospadias, Supernumerary nipple, Mesomelic/rhizomelic limb shortenin...	OMIM:601803
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Hydrocele testis, Hyperlipidemia, Hypoalbuminemia	ORPHA:567546
Peters-Plus Syndrome	Hypoplasia of the vagina, Rhizomelia, Bilobate gallbladder, Hypospadias, Postnatal growth retarda...	OMIM:261540
Turner Syndrome Due To Structural X Chromosome Anomalies	Failure to thrive in infancy, High urinary gonadotropin level, Increased circulating gonadotropin...	ORPHA:99413
Mosaic Monosomy X	Failure to thrive in infancy, High urinary gonadotropin level, Increased circulating gonadotropin...	ORPHA:99228
Monosomy X	Failure to thrive in infancy, High urinary gonadotropin level, Increased circulating gonadotropin...	ORPHA:99226
Turner Syndrome	Failure to thrive in infancy, High urinary gonadotropin level, Increased circulating gonadotropin...	ORPHA:881
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Small scrotum, Hypospadias, Cryptorchidism, Disproportionate short stature, Anteriorly displaced ...	OMIM:276820
Norrie Disease	Diabetes mellitus, Cryptorchidism, Erectile dysfunction, Uterine rupture, Delayed puberty	ORPHA:649
Doors Syndrome	Respiratory distress, Adrenal hyperplasia, Congenital hypothyroidism, Sirenomelia, Aspiration pne...	ORPHA:79500
Okamoto Syndrome	Splenomegaly, Severe postnatal growth retardation, Bifid uterus	ORPHA:2729
Steinert Myotonic Dystrophy	Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati...	ORPHA:273
Townes-Brocks Syndrome 1	Bifid scrotum, Rectoperineal fistula, Hypospadias, Bifid uterus, Cryptorchidism, Rectovaginal fis...	OMIM:107480
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Aplasia of the vagina, Aplasia of the uterus	ORPHA:457284
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Hypoventilation, Apnea, Hypopnea, Restrictive ventilatory defect, Aspiration pneumonia	OMIM:619482
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Abnormal reproductive system morphology, Supernumerary nipple, Bifid uterus	ORPHA:1521
Mayer-Rokitansky-Küster-Hauser Syndrome	Hypoplasia of the vagina, Aplasia of the uterus	ORPHA:3109
Goodpasture Syndrome	Glomerulonephritis, Nodular pattern on pulmonary HRCT, Crackles, Increased DLCO, Tachypnea, Restr...	OMIM:233450
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uterus	ORPHA:2736
Hellp Syndrome	Increased body weight	ORPHA:244242
Yunis-Varon Syndrome	Absent nipple, Hypospadias, Cryptorchidism, Growth delay, Birth length less than 3rd percentile, ...	OMIM:216340
Loeys-Dietz Syndrome	Uterine rupture	ORPHA:60030
Homozygous Familial Hypercholesterolemia	Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia, Hepatic steatosis	ORPHA:391665

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 Csf2

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 Csf2.

There are 8 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
GM-CSF instigates a dendritic cell-T-cell inflammatory circuit that drives chronic asthma development.	The Journal of allergy and clinical immunology (January 2021)	Csf2rb^{tm1c(EUCOMM)Hmgu}	33440200
Gut-licensed IFNγ⁺ NK cells drive LAMP1⁺TRAIL⁺ anti-inflammatory astrocytes.	Nature (January 2021)	Csf2rb^{tm1c(EUCOMM)Hmgu}	PMC8039910
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation.	G3 (Bethesda, Md.) (June 2020)	Csf2^{tm1.1(KOMP)Mbp} Csf2ra^{em1(IMPC)Wtsi}	PMC7263671
Microglial Homeostasis Requires Balanced CSF-1/CSF-2 Receptor Signaling.	Cell reports (March 2020)	Csf2rb^{tm1c(EUCOMM)Hmgu}	32130903
Granulocyte-Macrophage Colony Stimulating Factor As an Indirect Mediator of Nociceptor Activation and Pain.	The Journal of neuroscience : the official journal of the Society for Neuroscience (February 2020)	Csf2rb^{tm1c(EUCOMM)Hmgu}	PMC7083288
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Csf2^{tm1.1(KOMP)Mbp}	PMC6671969
The Cytokine TGF-β Promotes the Development and Homeostasis of Alveolar Macrophages.	Immunity (November 2017)	Csf2rb^{tm1a(EUCOMM)Hmgu}	29126797
The Cytokine GM-CSF Drives the Inflammatory Signature of CCR2+ Monocytes and Licenses Autoimmunity.	Immunity (September 2015)	Csf2rb^{tm1c(EUCOMM)Hmgu} Csf2rb^{tm1a(EUCOMM)Hmgu}	26341401

Order Mouse and ES Cells

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

MGI Allele	Allele Type	Produced
Csf2^tm1(KOMP)Mbp	Reporter-tagged deletion allele (with selection cassette)	Mice, Targeting vectors, ES Cells
Csf2^{tm2a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Csf2^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Csf2^{tm1b(KOMP)Mbp}	Reporter-tagged deletion allele (with selection cassette)	Mice
Csf2^{tm2e(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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