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Gene: Prox1 MGI:97772

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

prospero homeobox 1

Synonyms:

A230003G05Rik

Order Alleles

IMPC Data Collections

No Body Weight Data
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.

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.

Phenotype associated images not available

Human diseases caused by Prox1 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 Prox1 (0 diseases)
Human diseases predicted to be associated with Prox1 (840 diseases)

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

The table below shows human diseases predicted to be associated to Prox1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Lipedema	Edema	OMIM:614103
Angioedema, Hereditary, 6	Facial edema, Angioedema, Edema of the dorsum of hands	OMIM:619363
Pleural Mesothelioma	Respiratory distress, Hepatomegaly, Abnormal pleura morphology, Dyspnea, Abnormal lung morphology...	ORPHA:50251
Staphylococcal Necrotizing Pneumonia	Respiratory distress, Elevated circulating C-reactive protein concentration, Nonproductive cough,...	ORPHA:36238
Kaposi Sarcoma, Susceptibility To	Edema	OMIM:148000
Congenital Pulmonary Lymphangiectasia	Respiratory distress, Hepatomegaly, Cyanosis, Tricuspid regurgitation, Splenomegaly, Congestive h...	ORPHA:2414
Hyperinsulinism Due To Hnf1A Deficiency	Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Large for gestational age, Hypogl...	ORPHA:324575
Plin1-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer...	ORPHA:280356
Lymphatic Malformation 6	Genital edema, Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Splenomegaly, Polyhydr...	OMIM:616843
Perching Syndrome	Respiratory distress, Cyanosis, High palate, Dysphagia, Joint contracture, Rod-cone dystrophy, Ca...	OMIM:617055
Lymphatic Malformation 11	Pedal edema, Lymphedema	OMIM:619401
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hepatomegaly, Tachycardia, Maternal diabetes, Large for gestational age, Hyperinsulinemia, Polyph...	ORPHA:276580
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hepatomegaly, Tachycardia, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, De...	ORPHA:276575
Obesity Due To Melanocortin 4 Receptor Deficiency	Hypertriglyceridemia, Increased adipose tissue, Hyperinsulinemia, Obesity, Hypertension, Type II ...	ORPHA:71529
Severe Neurodegenerative Syndrome With Lipodystrophy	Reduced subcutaneous adipose tissue, Hepatomegaly, Hyperactivity, Hypertriglyceridemia, Reduced i...	ORPHA:363400
Acute Interstitial Pneumonia	Nodular pattern on pulmonary HRCT, Elevated circulating C-reactive protein concentration, Crackle...	ORPHA:79126
Lymphatic Malformation 7	Respiratory distress, Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial eff...	OMIM:617300
Immunodeficiency 91 And Hyperinflammation	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Membranoproliferative glomeru...	OMIM:619644
Sarcoidosis	Heart block, Increased T cell count, Abnormal lung morphology, Ventricular tachycardia, Uveitis, ...	ORPHA:797
Tularemia	Respiratory distress, Brain abscess, Tachycardia, Skin rash, Pneumonia, Erythema nodosum, Thrombo...	ORPHA:3392
Idiopathic Chronic Eosinophilic Pneumonia	Abnormality of the gastrointestinal tract, Elevated circulating C-reactive protein concentration,...	ORPHA:2902
Familial Partial Lipodystrophy, Köbberling Type	Hepatomegaly, Diabetes mellitus, Lipoatrophy, Insulin resistance, Hyperinsulinemia, Hypertension,...	ORPHA:79084
Lipodystrophy, Familial Partial, Type 3	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Decreased HDL ...	OMIM:604367
Lymphangioleiomyomatosis	Gastrointestinal hemorrhage, Recurrent respiratory infections, Lymphedema, Retinal hamartoma, Ate...	ORPHA:538
Obesity Due To Prohormone Convertase I Deficiency	Decreased response to growth hormone stimulation test, Increased adipose tissue, Hyperinsulinemia...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Decreased response to growth hormone stimulation test, Increased adipose tissue, Hyperinsulinemia...	ORPHA:71526
Lymphatic Malformation 9	Tortuous lymphatic vessels, Predominantly lower limb lymphedema	OMIM:619319
Sarcoidosis, Susceptibility To, 2	Hepatomegaly, Erythema nodosum, Splenomegaly, Dyspnea, Pneumothorax, Mediastinal lymphadenopathy,...	OMIM:612387
Hemochromatosis, Type 1	Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Sp...	OMIM:235200
Aspergillosis	Sinusitis, Vitritis, Intracranial hemorrhage, Cough, Neutropenia, Infectious encephalitis, Chroni...	ORPHA:1163
Hyperinsulinism Due To Ucp2 Deficiency	Hepatomegaly, Tachycardia, Reactive hypoglycemia, Large for gestational age, Hypoglycemic seizure...	ORPHA:276556
Avian Influenza	Respiratory distress, Elevated circulating creatine kinase concentration, Elevated circulating C-...	ORPHA:454836
Short Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Ketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Opt...	ORPHA:26792
Lymphangiectasia, Pulmonary, Congenital	Recurrent respiratory infections, Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Ede...	OMIM:265300
Hennekam Syndrome	Recurrent respiratory infections, Camptodactyly of finger, Malabsorption, Lymphedema, Splenomegal...	ORPHA:2136
Combined Oxidative Phosphorylation Deficiency 52	Hypoglycemia, Elevated circulating creatine kinase concentration, Elevated circulating aspartate ...	OMIM:619386
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Respiratory distress, Hepatomegaly, Anorexia, Splenomegaly, Thrombocytopenia, Optic atrophy, Hype...	ORPHA:79312
Lipodystrophy, Congenital Generalized, Type 3	Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Diabetes ...	OMIM:612526
Congenital Enterovirus Infection	Respiratory distress, Polyhydramnios, Fetal ascites, Hydrops fetalis, Leukopenia, Hypoalbuminemia...	ORPHA:292
Hypocomplementemic Urticarial Vasculitis	Episcleritis, Hepatomegaly, Skin rash, Ataxia, Pericardial effusion, Splenomegaly, Angioedema, Dy...	ORPHA:36412
Combined Oxidative Phosphorylation Deficiency 10	Failure to thrive, Hypoglycemia, Small for gestational age, Pericardial effusion, Optic atrophy, ...	OMIM:614702
Poems Syndrome	Papilledema, Diabetes mellitus, Lipodystrophy, Edema, Pericardial effusion, Respiratory insuffici...	ORPHA:2905
Neutral Lipid Storage Disease With Myopathy	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Elevated ci...	OMIM:610717
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Crackles, Gastroesophageal reflux, Cough, Lethargy, Hilar lymph node enlargement, Hepatomegaly, T...	OMIM:620233
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Retinal detachment, Abnormality of retinal pigmentation, Retinal dystrophy, Chorioretinal dysplas...	ORPHA:2526
Waldenström Macroglobulinemia	Normocytic anemia, Abnormality of neutrophils, Anorexia, Periorbital edema, Pedal edema, Hepatome...	ORPHA:33226
Mitchell-Riley Syndrome	Absent gallbladder, Meckel diverticulum, Jejunal atresia, Intestinal malrotation, Malabsorption, ...	OMIM:615710
Congenital Heart Block	Cyanosis, Crackles, First degree atrioventricular block, Pericardial effusion, Gallop rhythm, Con...	ORPHA:60041
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Respiratory distress, Cerebral hemorrhage, Subdural hemorrhage, Respiratory failure, High palate,...	OMIM:620278
Follicular Lymphoma	Abnormal peritoneum morphology, Lymphedema, Splenomegaly, Mediastinal lymphadenopathy, Lymphadeno...	ORPHA:545
Morbid Obesity And Spermatogenic Failure	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Myocardial infarction, Congestive ...	OMIM:615703
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Tachycardia, Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Pancreatic islet-cel...	ORPHA:276608
Congenital Glucokinase-Related Hyperinsulinism	Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Recurrent hypoglycemia, T...	ORPHA:79299
Pulmonary Non-Tuberculous Mycobacterial Infection	Respiratory distress, Crackles, Pericardial effusion, Dyspnea, Chronic pulmonary obstruction, Pne...	ORPHA:411703
Zollinger-Ellison Syndrome	Hyperparathyroidism, Pituitary corticotropic cell adenoma, Multiple lipomas, Zollinger-Ellison sy...	ORPHA:913
Cryptogenic Organizing Pneumonia	Respiratory distress, Bronchial breath sound, Neutrophilia, Cyanosis, Elevated circulating C-reac...	ORPHA:1302
Asbestos Intoxication	Edema, Reduced forced vital capacity, Nonproductive cough, Decreased DLCO, Oxygen desaturation on...	ORPHA:2302
Bardet-Biedl Syndrome 16	Respiratory distress, Recurrent respiratory infections, Obesity, Bronchiolitis, Hypogonadism, Rec...	OMIM:615993
Mahvash Disease	Pancreatic alpha-cell hyperplasia, Recurrent pancreatitis, Palpitations, Type II diabetes mellitu...	OMIM:619290
Gaucher Disease Type 2	Respiratory distress, Hepatomegaly, Recurrent respiratory infections, Cardiac arrest, Cough, Sple...	ORPHA:77260
Primary Intestinal Lymphangiectasia	Hypoproteinemia, Peritoneal effusion, Increased stool alpha1-antitrypsin concentration, Edema, Pe...	ORPHA:90362
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Elevated hepatic transaminase, Aggressive behavior, Hyperlipidemia, Hyperinsulinemia, Obesity, Hy...	ORPHA:329249
Amoebiasis Due To Entamoeba Histolytica	Elevated hepatic transaminase, Intestinal obstruction, Liver abscess, Lung abscess, Dyspnea, Leuk...	ORPHA:67
Congenital Generalized Lipodystrophy	Hepatomegaly, Prominent superficial veins, Hypertriglyceridemia, Lipodystrophy, Precocious pubert...	ORPHA:528
Hyperinsulinemic Hypoglycemia, Familial, 5	Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy...	OMIM:609968
Martinez-Frias Syndrome	Intestinal hypoplasia, Hypoplasia of the gallbladder, Jejunal atresia, Intestinal malrotation, Ex...	OMIM:601346
Hyperinsulinemic Hypoglycemia, Familial, 7	Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin...	OMIM:610021
Focal Segmental Glomerulosclerosis 1	Edema, Hyperlipidemia, Hypertension, Hypoalbuminemia, Pleural effusion, Ascites, Anemia	OMIM:603278
Systemic-Onset Juvenile Idiopathic Arthritis	Anterior uveitis, Pericarditis, Hepatomegaly, Skin rash, Elevated circulating C-reactive protein ...	ORPHA:85414
Myopathy, Epilepsy, And Progressive Cerebral Atrophy	Neonatal respiratory distress, Thymus hyperplasia, Polyhydramnios, Congenital contracture, Chylot...	OMIM:619036
Hyperinsulinemic Hypoglycemia, Familial, 1	Large for gestational age, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulin...	OMIM:256450
Idiopathic Hypereosinophilic Syndrome	Respiratory distress, Generalized lymphadenopathy, Cholangitis, Pulmonary embolism, Intracranial ...	ORPHA:3260
Lipodystrophy, Partial, Acquired, Susceptibility To	Membranoproliferative glomerulonephritis, Diabetes mellitus, Progressive loss of facial adipose t...	OMIM:608709
Pneumocystosis	Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Abnormal neutrophil...	ORPHA:723
Cholestasis, Progressive Familial Intrahepatic, 5	Failure to thrive, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, E...	OMIM:617049
Secondary Intestinal Lymphangiectasia	Edema, Lymphedema, Intestinal bleeding, Hypoalbuminemia, Hypocholesterolemia, Constrictive perica...	ORPHA:90363
Nocardiosis	Respiratory distress, Liver abscess, Anorexia, Lymphadenitis, Nonproductive cough, Conjunctivitis...	ORPHA:31204
Gcgr-Related Hyperglucagonemia	Neoplasm of the pancreas, Diabetes mellitus, Necrolytic migratory erythema, Zollinger-Ellison syn...	ORPHA:438274
Fusariosis	Myositis, Sinusitis, Fasciitis, Abnormality of the spleen, Abnormality of the liver, Neutropenia,...	ORPHA:228119
Hyperinsulinemic Hypoglycemia, Familial, 2	Hypoglycemia, Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyp...	OMIM:601820
Carnitine Deficiency, Systemic Primary	Respiratory distress, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration...	OMIM:212140
Hydrops Fetalis	Abnormality of the gastrointestinal tract, Small for gestational age, Nonimmune hydrops fetalis, ...	ORPHA:1041
Scedosporiosis	Pericarditis, Osteomyelitis, Arthralgia/arthritis, Sinusitis, Pneumonia, Bronchitis, Bronchial br...	ORPHA:449280
Zygomycosis	Fasciitis, Sinusitis, Periorbital edema, Acute infectious pneumonia, Unusual gastrointestinal inf...	ORPHA:73263
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome	Optic nerve hypoplasia, Aplasia/Hypoplasia of the pancreas	ORPHA:65288
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein ...	OMIM:613011
Isolated Congenital Hypoglossia/Aglossia	Respiratory distress, Dyspnea, Upper airway obstruction, Cleft palate, Weight loss, Aspiration pn...	ORPHA:141152
Lipodystrophy, Congenital Generalized, Type 4	Elevated hepatic transaminase, Hepatomegaly, Prolonged QT interval, Hypertriglyceridemia, Lipodys...	OMIM:613327
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Eczema, Abscess, Anal fissure, Perianal abscess, Lymphadeni...	OMIM:618935
Fryns Syndrome	Omphalocele, Meckel diverticulum, Ectopic pancreatic tissue, Aganglionic megacolon, Intestinal ma...	OMIM:229850
Q Fever	Respiratory distress, Anorexia, Abnormal left ventricular function, Abnormality of the liver, Cho...	ORPHA:781
Meige Disease	Recurrent bacterial skin infections, Predominantly lower limb lymphedema, Recurrent skin infectio...	ORPHA:90186
Chédiak-Higashi Syndrome	Edema, Vacuolated lymphocytes, Periodontitis, Neutropenia, Abnormal natural killer cell morpholog...	ORPHA:167
Pontocerebellar Hypoplasia, Type 13	Recurrent respiratory infections, Edema, Inability to walk, Asthma, Gait ataxia, Pleural effusion...	OMIM:618606
Multiple Endocrine Neoplasia Type 4	Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Zollinger-El...	ORPHA:276152
Pulmonary Capillary Hemangiomatosis	Pulmonary edema, Cyanosis, Diffuse alveolar hemorrhage, Pericardial effusion, Pulmonary capillary...	ORPHA:199241
Hyperinsulinism Due To Insr Deficiency	Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen...	ORPHA:263458
Lipodystrophy, Familial Partial, Type 7	Lack of facial subcutaneous fat, Dysmetria, Gait ataxia, Glucose intolerance, Decreased adipose t...	OMIM:606721
Lymphedema-Distichiasis Syndrome	Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Lymphedema, Cleft palate, Conjunc...	OMIM:153400
Lipodystrophy, Familial Partial, Type 2	Decreased HDL cholesterol concentration, Adipose tissue loss, Increased intraabdominal fat, Hyper...	OMIM:151660
Acquired Partial Lipodystrophy	Lipoatrophy, Progeroid facial appearance, Insulin resistance, Lymphocytosis, Hepatic steatosis	ORPHA:79087
Brucellosis	Liver abscess, Elevated circulating C-reactive protein concentration, Bronchitis, Anorexia, Knee ...	ORPHA:1304
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Hyperalaninemia, Hepatomegaly, Apnea, Elevated circulating aspartate aminotransferase concentrati...	OMIM:619048
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Elevated hepatic transaminase, Hepatomegaly, Respiratory distress, Failure to thrive, Nonimmune h...	ORPHA:367
Hemochromatosis, Type 4	Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Increased circulating ferritin conce...	OMIM:606069
Obesity And Hypopigmentation	Hyperinsulinemia, Hepatic steatosis, Polyphagia, Obesity	OMIM:620195
Insulinoma	Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin...	ORPHA:97279
Obesity Due To Congenital Leptin Deficiency	Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d...	ORPHA:66628
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Retinal detachment, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Primary gonadal in...	ORPHA:436182
Capillary Malformation-Arteriovenous Malformation	Epistaxis, Nonimmune hydrops fetalis, Lymphedema, High-output congestive heart failure, Congestiv...	ORPHA:137667
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee	Elevated hepatic transaminase, Hepatic steatosis, Mildly elevated creatine kinase, Gait disturbance	OMIM:618400
Homozygous 11P15-P14 Deletion Syndrome	Failure to thrive, Hyperinsulinemia, Abnormal intestine morphology, Hypoglycemia	OMIM:606528
Systemic Capillary Leak Syndrome	Pericarditis, Rhinorrhea, Myocarditis, Leukocytosis, Pedal edema, Cardiorespiratory arrest, Weigh...	ORPHA:188
Car T Cell Therapy-Associated Cytokine Release Syndrome	Elevated hepatic transaminase, Increased inflammatory response, Tachycardia, Skin rash, Heart blo...	ORPHA:542323
Mpi-Cdg	Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Edema, Hypoalbuminemia, Hepatic f...	ORPHA:79319
Primary Effusion Lymphoma	Abnormal peritoneum morphology, Dyspnea, Pericardial effusion, Pleural effusion	ORPHA:48686
Lipodystrophy, Familial Partial, Type 5	Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l...	OMIM:615238
Congenital Myopathy 10A, Severe Variant	Respiratory distress, Camptodactyly of finger, Elevated circulating creatine kinase concentration...	OMIM:614399
Alstrom Syndrome	Decreased HDL cholesterol concentration, Chronic active hepatitis, Decreased response to growth h...	OMIM:203800
Edema, Familial Idiopathic, Prepubertal	Edema	OMIM:129840
Pulmonary Arteriovenous Malformation	Brain abscess, Liver abscess, Cyanosis, Epistaxis, Myocardial infarction, Transient ischemic atta...	ORPHA:2038
Pancreatic Agenesis 1	Pancreatic hypoplasia, Pancreatic aplasia, Oligohydramnios, Exocrine pancreatic insufficiency	OMIM:260370
Lipe-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ...	ORPHA:435660
Obesity Due To Leptin Receptor Gene Deficiency	Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d...	ORPHA:179494
Retinitis Pigmentosa	Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Optic atrophy, Hyperin...	ORPHA:791
Lipodystrophy, Familial Partial, Type 6	Diabetes mellitus, Lipodystrophy, Elevated circulating creatine kinase concentration, Hyperlipide...	OMIM:615980
High Altitude Pulmonary Edema	Orthopnea, Tachycardia, Cyanosis, Crackles, Anorexia, Dyspnea, Leukocytosis, Tachypnea, Hypoxemia...	ORPHA:330012
Primary Sclerosing Cholangitis	Acute hepatic failure, Abnormal eosinophil morphology, Spider hemangioma, Uveitis, Hepatic fibros...	ORPHA:171
Lipodystrophy, Familial Partial, Type 4	Hypertriglyceridemia, Lipoatrophy, Lipodystrophy, Insulin resistance, Insulin-resistant diabetes ...	OMIM:613877
Immunodeficiency 87 And Autoimmunity	Atrophic gastritis, Villous atrophy, Elevated circulating C-reactive protein concentration, Hepat...	OMIM:619573
Insulin Autoimmune Syndrome	Nonketotic hypoglycemia, Arthralgia/arthritis, Reactive hypoglycemia, Insulin-resistant diabetes ...	ORPHA:411593
Hyperinsulinemic Hypoglycemia, Familial, 3	Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:602485
Lymphatic Malformation 2	Lymphedema	OMIM:611944
Radio-Renal Syndrome	Respiratory distress, High, narrow palate, Dyspnea, Respiratory failure, Chylothorax, Pleural eff...	ORPHA:3015
Idiopathic Neonatal Atrial Flutter	Respiratory distress, Abnormal EKG, Abnormal atrioventricular conduction, Maternal diabetes, Larg...	ORPHA:45452
Hyperinsulinemic Hypoglycemia, Familial, 8	Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H...	OMIM:620211
Kikuchi-Fujimoto Disease	Generalized lymphadenopathy, Elevated circulating C-reactive protein concentration, Anorexia, Leu...	ORPHA:50918
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Polyhydramnios, Pericardial effusion, Recurrent upper respira...	OMIM:618183
Congenital Disorder Of Glycosylation, Type Ie	Elevated hepatic transaminase, Hepatomegaly, Respiratory distress, Ataxia, Elevated circulating c...	OMIM:608799
Malaria	Respiratory distress, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Ga...	ORPHA:673
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Large for gestational age, Abnormal cir...	ORPHA:263455
Congenital Disorder Of Glycosylation, Type Ib	Hepatomegaly, Villous atrophy, Failure to thrive, Edema, Steatorrhea, Hepatic fibrosis, Hypoalbum...	OMIM:602579
Cidec-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ...	ORPHA:435651
Stuve-Wiedemann Syndrome 2	Respiratory distress, Eczema, Congestive heart failure, Camptodactyly, Stillbirth, Dysphagia, Neo...	OMIM:619751
Cholesteryl Ester Storage Disease	Acute hepatic failure, Decreased HDL cholesterol concentration, Adrenal calcification, Bone-marro...	OMIM:278000
Sarcoidosis, Susceptibility To, 1	Generalized lymphadenopathy, Anorexia, Uveitis, Inflammation of the large intestine, Cough, Emphy...	OMIM:181000
Wilson Disease	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Aggressive...	ORPHA:905
Glycogen Storage Disease Ii	Wolff-Parkinson-White syndrome, Hepatomegaly, Recurrent respiratory infections, Increased circula...	OMIM:232300
Pediatric Systemic Lupus Erythematosus	Abnormality of the gastrointestinal tract, Lymphopenia, Myositis, Skin rash, Edema, Discoid lupus...	ORPHA:93552
Macular Dystrophy, Dominant Cystoid	Cystoid macular edema, Edema	OMIM:153880
Pparg-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipoatrophy, Di...	ORPHA:79083
Porphyria Cutanea Tarda	Abnormal circulating porphyrin concentration, Elevated hepatic iron concentration, Hepatic steato...	ORPHA:101330
Combined Oxidative Phosphorylation Deficiency 34	Hepatomegaly, Pancytopenia, Failure to thrive, Hypergonadotropic hypogonadism, Hypoglycemia, Elev...	OMIM:617872
Acute Lung Injury	Respiratory distress, Shock, Acute pancreatitis, Pneumonia, Elevated circulating C-reactive prote...	ORPHA:178320
Sepsis In Premature Infants	Abnormal mucociliary clearance, Elevated circulating C-reactive protein concentration, Edema, Gas...	ORPHA:90051
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Elevated circulating creatine kinase concentration, Episodic tachypnea, Tac...	ORPHA:26793
Hypoglycemia, Leucine-Induced	Hypoglycemia, Ataxia, Hyperinsulinemic hypoglycemia	OMIM:240800
Behçet Disease	Myositis, Anorexia, Pulmonary embolism, Myocardial infarction, Infectious encephalitis, Acne, Ata...	ORPHA:117
Peroxisomal Acyl-Coa Oxidase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Optic atrop...	OMIM:264470
Pulmonary Edema Of Mountaineers, Susceptibility To	Edema, Pulmonary edema	OMIM:178400
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase c...	ORPHA:42
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatomegaly, Cyanosis, Apnea, Hypoglycemia, Elevated circulating alanine aminotransferase concen...	OMIM:261680
Wild Type Attr Amyloidosis	Hepatomegaly, Abnormal EKG, Myocardial infarction, Congestive heart failure, Gastrointestinal dys...	ORPHA:330001
Granulomatous Disease, Chronic, X-Linked	Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra...	OMIM:306400
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Juvenile myelomonocytic leukemia, Polyhydramnios, Lymphedema, Splenomegaly, Hepatosplenomegaly, M...	OMIM:613563
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Acute hepatic failure, Fasting hyperinsulinemia, Hepatic necrosis, Hypoglycemic seizures, Letharg...	ORPHA:71212
Hyperinsulinemic Hypoglycemia, Familial, 4	Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:609975
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Respiratory distress, Myositis, Abnormal blood ion concentration, Tubulointerstitial nephritis, I...	ORPHA:37042
Acquired Generalized Lipodystrophy	Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Progeroid facial appearance, Insulin resi...	ORPHA:79086
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Nonketotic hypoglycemia, Hepatomegaly, Necrotizing enterocolitis, Elevated circulating creatine k...	OMIM:201475
Insulin-Resistance Syndrome Type B	Osteoarthritis, Fasting hyperinsulinemia, Increased body weight, Leukopenia, Glucose intolerance,...	ORPHA:2298
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Elevated hepatic transaminase, Hepatomegaly, Sideroblastic anemia, Respiratory distress, Respirat...	OMIM:613561
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Portal hypertension, Hiatus hernia, Pancreatic cysts, Splenomegaly, Developmental g...	OMIM:610199
Malignant Atrophic Papulosis	Gastrointestinal hemorrhage, Intestinal fistula, Telangiectasia of the skin, Myocardial infarctio...	ORPHA:679
Esophageal Atresia	Respiratory distress, Polyhydramnios, Bronchitis, Maternal diabetes, Gastrointestinal dysmotility...	ORPHA:1199
Hyperinsulinemic Hypoglycemia, Familial, 6	Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Asymptomatic hyperammonemia, Hy...	OMIM:606762
Rajab Interstitial Lung Disease With Brain Calcifications 2	Elevated hepatic transaminase, Hypertriglyceridemia, Microcytic anemia, Hypothyroidism, Abnormal ...	OMIM:619013
Hypertriglyceridemia, Transient Infantile	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis...	OMIM:614480
Leptospirosis	Respiratory distress, Anorexia, First degree atrioventricular block, Uveitis, Cough, Papilledema,...	ORPHA:509
Akt2-Related Familial Partial Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l...	ORPHA:79085
Recurrent Respiratory Papillomatosis	Respiratory distress, Failure to thrive, Nonproductive cough, Abnormal lung morphology, Recurrent...	ORPHA:60032
Pseudo-Torch Syndrome 2	Elevated hepatic transaminase, Hepatomegaly, Acute respiratory distress syndrome, Petechiae, Cere...	OMIM:617397
Bronchopulmonary Dysplasia	Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Small fo...	ORPHA:70589
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Methylmalonic acidemia, Hepatomegaly, Respiratory distress, Hypoglycemia, Cerebellar hemorrhage, ...	OMIM:251000
Galactokinase Deficiency	Hepatomegaly, Hypergonadotropic hypogonadism, Hypoglycemia, Small for gestational age, Neonatal a...	ORPHA:79237
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Decreased HDL cholesterol concentration, Premature graying of hair, Increased intraabdominal fat,...	ORPHA:280365
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Respiratory distress, Hepatomegaly, Respiratory failure requiring assisted ventilation, Increased...	ORPHA:254864
Niemann-Pick Disease, Type B	Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Recurrent respirator...	OMIM:607616
Obesity Due To Sim1 Deficiency	Hyperinsulinemia, Obesity, Glucose intolerance, Hypotension, Attention deficit hyperactivity diso...	ORPHA:369873
Glycogen Storage Disease Of Heart, Lethal Congenital	Respiratory distress, Apnea, Prolonged QRS complex, Pericardial effusion, Shortened PR interval, ...	OMIM:261740
Mody	Elevated hemoglobin A1c, Large for gestational age, Overweight, Transient neonatal diabetes melli...	ORPHA:552
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1	Diabetes mellitus, Dorsocervical fat pad, Delayed thelarche, Hyperinsulinemic hypoglycemia, Delay...	OMIM:616033
Combined Oxidative Phosphorylation Deficiency 16	Microvesicular hepatic steatosis, Hypertrophic cardiomyopathy, Elevated circulating alanine amino...	OMIM:615395
Kaposiform Lymphangiomatosis	Epidural hemorrhage, Epistaxis, Pancreatic cysts, Splenomegaly, Thrombocytopenia, Abnormal lung m...	ORPHA:464329
Citrullinemia Type Ii	Decreased HDL cholesterol concentration, Acute hyperammonemia, Hepatic fibrosis, Hypoalbuminemia,...	ORPHA:247585
Mandibuloacral Dysplasia	Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut...	ORPHA:2457
Severe X-Linked Mitochondrial Encephalomyopathy	Increased serum pyruvate, Respiratory distress, Respiratory insufficiency, Increased connective t...	ORPHA:238329
Dietary Iron Overload Disease	Viral hepatitis, Hepatomegaly, Diabetes mellitus, Hepatocellular carcinoma, Increased circulating...	ORPHA:139507
Pancreatic Agenesis 2	Exocrine pancreatic insufficiency, Pancreatic hypoplasia, Steatorrhea, Pancreatic aplasia	OMIM:615935
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Abnormality of retinal pigmentation, Hypergonadotropic hypogonadism, Hyperinsulinemia, Obesity, T...	ORPHA:3085
Hemorrhagic Fever-Renal Syndrome	Respiratory distress, Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulointersti...	ORPHA:340
Classic Glucose Transporter Type 1 Deficiency Syndrome	Central apnea, Cyanosis, Ataxia, Abnormal erythrocyte morphology, Choreoathetosis, Lethargy	ORPHA:71277
Body Mass Index Quantitative Trait Locus 19	Hypertriglyceridemia, Insulin resistance, Hyperlipidemia, Hyperinsulinemia, Obesity, Increased se...	OMIM:617885
Familial Partial Lipodystrophy, Dunnigan Type	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipoatrophy, Li...	ORPHA:2348
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Hyperactivity, Pericardial lymphangiectasia, Nonimmune hydrops fetalis, Lymphedema, Periorbital e...	OMIM:235510
Coccidioidomycosis	Respiratory distress, Abnormality of the spleen, Abnormality of the liver, Cough, Morbilliform ra...	ORPHA:228123
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Respiratory distress, Decreased response to growth hormone stimulation test, Crackles, Tachypnea,...	OMIM:610978
Congenital Disorder Of Glycosylation, Type Iir	Elevated hepatic transaminase, Hepatomegaly, Decreased proportion of CD4-positive T cells, Jaundi...	OMIM:301045
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Respiratory distress, Cyanosis, Low-output congestive heart failure, Hypertrophic cardiomyopathy,...	ORPHA:91130
Lipodystrophy, Congenital Generalized, Type 1	Reduced subcutaneous adipose tissue, Hepatomegaly, Acute pancreatitis, Elevated hepatic transamin...	OMIM:608594
Macrocephaly-Intellectual Disability-Autism Syndrome	Intestinal polyposis, Hurthle cell thyroid adenoma, Multiple lipomas, Thyroid carcinoma, Attentio...	ORPHA:210548
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect...	OMIM:610913
Leptin Deficiency Or Dysfunction	Decreased serum leptin, Recurrent pneumonia, Recurrent upper respiratory tract infections, Obesit...	OMIM:614962
Malignant Atrophic Papulosis	Gastrointestinal hemorrhage, Constrictive pericarditis, Gastrointestinal infarctions, Pleural eff...	OMIM:602248
Myasthenic Syndrome, Congenital, 6, Presynaptic	Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap...	OMIM:254210
Yellow Nail Syndrome	Hypoplasia of lymphatic vessels, Predominantly lower limb lymphedema, Lymphedema	OMIM:153300
Immunodeficiency 95	Respiratory distress, Recurrent respiratory infections, Lymphopenia, Respiratory failure, Recurre...	OMIM:619773
Hsd10 Disease, Infantile Type	Restlessness, Cyanosis, Hypoglycemia, Gastrointestinal dysmotility, Optic atrophy, Hyperammonemia...	ORPHA:391428
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Plantar telangiectasia, Predominantly lower limb lymphedema, Palpebral edema, Cutis marmorata, Ab...	ORPHA:69735
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Apnea, Crazy paving pattern, Nodular pattern on pulmonary HRCT, Tachypnea, ...	OMIM:610921
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Elevated hepatic transaminase, Hypert...	OMIM:615381
Transient Neonatal Diabetes Mellitus	Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo...	ORPHA:99886
Bacterial Toxic-Shock Syndrome	Respiratory distress, Myositis, Fasciitis, Sinusitis, Elevated circulating creatine kinase concen...	ORPHA:36234
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Respiratory distress, Hepatomegaly, Thrombocytopenia, Optic atrophy, Hyperammonemia, Choreoatheto...	ORPHA:289916
Myopathy And Diabetes Mellitus	Respiratory distress, Inability to walk, Achilles tendon contracture, Progressive cerebellar atax...	ORPHA:2596
Microphthalmia, Isolated, With Coloboma 4	Microcornea, Coloboma	OMIM:251505
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Hypertriglyceridemia, Skin rash, Edema, Splenomegaly, Jaundice, Thrombocytopenia, I...	OMIM:603552
Hyperinsulinism-Hyperammonemia Syndrome	Reactive hypoglycemia, Fasting hyperinsulinemia, Asymptomatic hyperammonemia, Attention deficit h...	ORPHA:35878
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Ataxia, Inability to walk, Congestive heart failure, Respiratory failure, Gastroesophageal reflux...	ORPHA:70472
Infant Acute Respiratory Distress Syndrome	Tachycardia, Cyanosis, Pneumonia, Cardiac arrest, Respiratory tract infection, Atelectasis, Nasal...	ORPHA:70587
Perlman Syndrome	Hepatomegaly, Inguinal hernia, Femoral hernia, High, narrow palate, Abnormal pancreas morphology,...	ORPHA:2849
Hereditary Pulmonary Alveolar Proteinosis	Abnormal circulating protein concentration, Respiratory failure requiring assisted ventilation, R...	ORPHA:264675
Cryptococcosis	Respiratory distress, Osteomyelitis, Lymphoid leukemia, Pneumonia, Abnormal retinal morphology, N...	ORPHA:1546
Lipodystrophy, Congenital Generalized, Type 2	Reduced subcutaneous adipose tissue, Hepatomegaly, Acute pancreatitis, Elevated hepatic transamin...	OMIM:269700
Eosinophilic Granulomatosis With Polyangiitis	Myositis, Sinusitis, Myocardial infarction, Tubulointerstitial nephritis, Gastroesophageal reflux...	ORPHA:183
Ovarian Fibrothecoma	Peritonitis, Abnormal circulating hormone concentration, Increased serum testosterone level, Pleu...	ORPHA:314478
Carnitine-Acylcarnitine Translocase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Cyanosis, Sudden episodic apnea, Elevated circulatin...	ORPHA:159
Eosinophilic Fasciitis	Myositis, Fasciitis, Abnormal eosinophil morphology, Eosinophilia, Edema, Weight loss, Arthritis,...	ORPHA:3165
Alpha-1-Antitrypsin Deficiency	Elevated hepatic transaminase, Chronic bronchitis, Cough, Splenomegaly, Dyspnea, Chronic pulmonar...	OMIM:613490
Lymphatic Malformation 8	Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Pleural effusion, Generalized edema	OMIM:618773
Erdheim-Chester Disease	Polydipsia, Osteomyelitis, Skin rash, Hypogonadotropic hypogonadism, Ataxia, Retroperitoneal fibr...	ORPHA:35687
Diarrhea 13	Elevated hepatic transaminase, Recurrent hypoglycemia, Hypoalbuminemia, Failure to thrive, Hepati...	OMIM:620357
Muscular Hypertonia, Lethal	Respiratory distress, Umbilical hernia, Pneumonia	OMIM:254120
Insulinomatosis And Diabetes Mellitus	Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ...	OMIM:147630
Noonan Syndrome 8	Eczema, Polyhydramnios, Large for gestational age, Hypertrophic cardiomyopathy, Mitral regurgitat...	OMIM:615355
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:600649
Congenital Disorder Of Glycosylation, Type Iu	Elevated hepatic transaminase, Respiratory distress, Neonatal respiratory distress, Elevated circ...	OMIM:615042
Idiopathic Steroid-Sensitive Nephrotic Syndrome	Lymphedema	ORPHA:69061
Congenital Disorder Of Glycosylation, Type Ia	Villous atrophy, Edema, Flexion contracture, Dysmetria, Hepatic fibrosis, Hypoalbuminemia, Hypoch...	OMIM:212065
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Broad-based gait, Reduced systolic function, Failure to thrive in infancy, Microcyt...	OMIM:618805
Aicardi-Goutieres Syndrome 9	Edema, Hepatic fibrosis, Hypoalbuminemia, Hypothyroidism, Hepatic steatosis, Self-mutilation, Hep...	OMIM:619487
Interstitial Pneumonitis, Desquamative, Familial	Respiratory distress, Cyanosis, Type II pneumocyte hypertrophy, Desquamative interstitial pneumon...	OMIM:263000
Coach Syndrome 2	Elevated hepatic transaminase, Congenital hepatic fibrosis, Coloboma, Portal fibrosis, Hepatic fi...	OMIM:619111
Carnitine-Acylcarnitine Translocase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase c...	OMIM:212138
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Apnea, Elevated circulating growth hormone concentration, Neonatal hypoglycemia, Large for gestat...	ORPHA:79644
Rett Syndrome	Increased serum pyruvate, Inability to walk, Hyperammonemia, Bradykinesia, Gait disturbance, Chol...	ORPHA:778
3-Hydroxy-3-Methylglutaric Aciduria	Apnea, Edema, Anorexia, Tachypnea, Dehydration, Leukopenia, Recurrent hypoglycemia, Lethargy, Hep...	ORPHA:20
Anaplastic Thyroid Carcinoma	Respiratory distress, Dyspnea, Tracheoesophageal fistula, Dysphagia, Upper airway obstruction, St...	ORPHA:142
Body Mass Index Quantitative Trait Locus 20	Hyperinsulinemia, Polyphagia, Obesity	OMIM:618406
Hypoinsulinemic Hypoglycemia With Hemihypertrophy	Hypoglycemia, Polyhydramnios, Large for gestational age, Obesity, Truncal obesity, Fasting hypogl...	OMIM:240900
Microphthalmia, Isolated, With Coloboma 6	Hypoplasia of the fovea, Coloboma, Optic disc hypoplasia	OMIM:613703
Familial Mediterranean Fever	Hepatomegaly, Pericarditis, Neutrophilia, Elevated circulating C-reactive protein concentration, ...	OMIM:249100
Gjc2-Related Late-Onset Primary Lymphedema	Genital edema, Predominantly lower limb lymphedema, Edema of the dorsum of hands, Facial edema, P...	ORPHA:568051
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Palpebral edema, Edema, Pulmonary embolism, Minimal change glomerulonephritis, Facial edema, Hype...	ORPHA:567546
Bronchial Neuroendocrine Tumor	Anorexia, Nonproductive cough, Hepatomegaly, Tricuspid regurgitation, Chronic noninfectious lymph...	ORPHA:97287
Mandibuloacral Dysplasia With Type B Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Prominent superficial veins, Decreased adipose tiss...	OMIM:608612
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Small for gestational age, Polyhydramnios, Flexion contracture, Hydrops fetalis, Cleft palate, Hy...	OMIM:616897
Noonan Syndrome 1	Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Failure to thrive in infancy,...	OMIM:163950
Familial Chylomicronemia Syndrome	Acute pancreatitis, Hypertriglyceridemia, Diabetes mellitus, Pulmonary embolism, Perianal abscess...	ORPHA:444490
Congenital Disorder Of Glycosylation, Type It	Elevated circulating creatine kinase concentration, Hepatic steatosis, Bifid uvula, Hepatomegaly,...	OMIM:614921
Glycogen Storage Disease Vi	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Failure to thriv...	OMIM:232700
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema	Respiratory distress, Tongue edema, Palpebral edema, Pharyngeal edema, Facial edema, Laryngeal ed...	ORPHA:100057
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Apnea, Elevated circulating creatine kinase concentration, Increased muscle lipid content, Knee f...	OMIM:608836
Infection-Related Hemolytic Uremic Syndrome	Edema, Intestinal perforation, Gastrointestinal infarctions, Hypocalcemia, Acute colitis, Hyponat...	ORPHA:544482
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Respiratory distress, Hepatomegaly, Ataxia, Respiratory insufficiency due to muscle weakness, Opt...	OMIM:220110
Slc35A1-Cdg	Respiratory distress, Subcutaneous hemorrhage, Pneumonia, Giant platelets, Hypoxemia, Neutropenia...	ORPHA:238459
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Respiratory distress, Polyhydramnios, Respiratory insufficiency due to muscle weakness, Dilated c...	OMIM:300580
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hypoglycemia, Portal hypertension...	OMIM:251880
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Acute hepatic failure, Respiratory distress, Microvesicular hepatic steatosis, Osteomyelitis lead...	OMIM:256810
Primary Pulmonary Hypoplasia	Recurrent respiratory infections, Neonatal respiratory distress, Cyanosis, Apnea, Asthma, Tachypn...	ORPHA:2257
Severe Acute Respiratory Syndrome	Respiratory distress, Respiratory failure requiring assisted ventilation, Diabetes mellitus, Dysp...	ORPHA:140896
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Respiratory distress, Large for gestational age, Elevated circulating thyroid-stimulating hormone...	ORPHA:226313
Pulmonary Alveolar Microlithiasis	Bronchitis, Nonproductive cough, Tachypnea, Increased circulating surfactant protein level, Oxyge...	ORPHA:60025
Autoimmune Hepatitis	Elevated hepatic transaminase, Viral hepatitis, Gastrointestinal hemorrhage, Diffuse hepatic stea...	ORPHA:2137
Congenital Disorder Of Glycosylation, Type Iip	Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Increased LDL c...	OMIM:616829
Complete Atrioventricular Septal Defect	Crackles, Tachypnea, Atrioventricular block, Lethargy, Hepatomegaly, Abnormal EKG, Intercostal re...	ORPHA:1329
Isolated Atp Synthase Deficiency	Respiratory distress, Hepatomegaly, Ataxia, Dilated cardiomyopathy, Optic atrophy, Hyperammonemia...	ORPHA:254913
Gorham-Stout Disease	Osteomyelitis, Edema, Lymphangioma, Pleural effusion, Rhinorrhea	ORPHA:73
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Respiratory distress, Failure to thrive in infancy, Respiratory insufficiency due to muscle weakn...	ORPHA:254875
Neurogenic Arthrogryposis Multiplex Congenita	Respiratory distress, Hip contracture, Ankle flexion contracture, Respiratory insufficiency due t...	ORPHA:1143
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased urinary cortisol level, Plethora, Dorsocervical fat pad, Acne, Paradoxical increased co...	ORPHA:189427
Phosphoserine Aminotransferase Deficiency	Cyanotic episode, Hypoglycinemia, Apnea, Hyposerinemia	OMIM:610992
Methemoglobinemia, Beta Type	Cyanosis, Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Cyanosis, Methemoglobinemia	OMIM:617973
Hypomyelination Neuropathy-Arthrogryposis Syndrome	Respiratory distress	ORPHA:2680
N-Acetylglutamate Synthase Deficiency	Respiratory distress, Hyperglutamatemia, Aggressive behavior, Hyperammonemia, Lethargy, Failure t...	OMIM:237310
Chronic Graft Versus Host Disease	Fasciitis, Anorexia, Flexion contracture, Xerostomia, Gastroesophageal reflux, Cough, Poor wound ...	ORPHA:99921
Lymphatic Malformation 5	Facial edema, Hypoplasia of lymphatic vessels, Predominantly lower limb lymphedema	OMIM:153200
Chronic Pneumonitis Of Infancy	Respiratory distress, Cyanosis, Intercostal retractions, Reduced forced vital capacity, Mediastin...	ORPHA:91359
Eosinophilic Gastroenteritis	Abnormality of the gastrointestinal tract, Eosinophilia, Allergic rhinitis, Elevated circulating ...	ORPHA:2070
Ddost-Cdg	Elevated hepatic transaminase, Lipodystrophy, Gastroesophageal reflux, Primary hypothyroidism, Fa...	ORPHA:300536
Combined Oxidative Phosphorylation Deficiency 30	Respiratory distress, Elevated circulating aspartate aminotransferase concentration, Elevated cir...	OMIM:616974
Autoinflammatory-Pancytopenia Syndrome	Pancytopenia, Membranoproliferative glomerulonephritis, Lipodystrophy, Intestinal inflammation, C...	OMIM:619858
Progeria-Short Stature-Pigmented Nevi Syndrome	Elevated hepatic transaminase, Neoplasm of the pancreas, Broad-based gait, Multiple joint contrac...	ORPHA:2959
Mitochondrial Complex I Deficiency, Nuclear Type 11	Wolff-Parkinson-White syndrome, Hepatomegaly, Congestive heart failure, Pigmentary retinopathy, M...	OMIM:618234
Meconium Aspiration Syndrome	Respiratory distress, Maternal diabetes, Neonatal asphyxia, Wheezing, Atelectasis, Pneumothorax, ...	ORPHA:70588
Emphysema, Congenital Lobar	Respiratory distress	OMIM:130710
Pearson Syndrome	Decreased response to growth hormone stimulation test, Hydrops fetalis, Dehydration, Abnormality ...	ORPHA:699
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Respiratory distress, Hepatomegaly, Acute hyperammonemia, Ataxia, Hyperglutaminemia, Hyperammonem...	ORPHA:927
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Elevated hepatic transaminase, Hypertyrosinemia, Respiratory distress, Failure to thrive, Hypogly...	OMIM:617156
Abetalipoproteinemia	Decreased HDL cholesterol concentration, Dysmetria, Gait ataxia, Steppage gait, Hepatic fibrosis,...	ORPHA:14
Congenitally Uncorrected Transposition Of The Great Arteries	Hepatomegaly, Tachycardia, Cyanosis, Small for gestational age, Cardiac shunt, Maternal diabetes,...	ORPHA:860
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Elevated circulating creatine kinase concentration, Increased sarcoplasmic glycogen, Increased bo...	ORPHA:264580
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Respiratory distress, Hypomethioninemia, Megaloblastic anemia, Pulmonary embolism, Hydrops fetali...	ORPHA:79282
Myasthenic Syndrome, Congenital, 4A, Slow-Channel	Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap...	OMIM:605809
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Impaired gluconeogenesis, Hepatic failure, Hepatic steatosis, Hypoglycemia	OMIM:261650
Ring Chromosome 22 Syndrome	Edema, Lymphedema, Protruding tongue, Gait ataxia, Inappropriate behavior, Pleural effusion	ORPHA:1446
Fatty Liver Disease, Susceptibility To, 1	Hepatic steatosis	OMIM:613282
Fatty Liver Disease, Susceptibility To, 2	Hepatic steatosis	OMIM:613387
Citrullinemia, Type Ii, Adult-Onset	Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr...	OMIM:603471
Mitochondrial Pyruvate Carrier Deficiency	Increased serum pyruvate, Hepatomegaly, Hypoglycemia, Respiratory distress	OMIM:614741
Cyanosis, Transient Neonatal	Hepatomegaly, Reticulocytosis, Cyanosis, Jaundice, Methemoglobinemia, Anemia	OMIM:613977
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Hepatic steatosis, Hypertrophic cardiomyopathy, Retinopathy, Cardiomyopathy	OMIM:615119
Lujo Hemorrhagic Fever	Respiratory distress, Elevated circulating C-reactive protein concentration, Crackles, Facial ede...	ORPHA:319213
Ovarian Hyperstimulation Syndrome	Pulmonary edema, Increased circulating gonadotropin level, Hypovolemia, Capillary leak, Periphera...	ORPHA:64739
Carnitine Palmitoyltransferase I Deficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc...	OMIM:255120
Thyroid Lymphoma	Respiratory distress, Hyperthyroidism, Dyspnea, Upper airway obstruction, Lymphadenopathy, Strido...	ORPHA:97285
Congenital Myasthenic Syndrome	Waddling gait, Recurrent respiratory infections, Cyanosis, Sudden episodic apnea, Ataxia, Polyhyd...	ORPHA:590
Presynaptic Congenital Myasthenic Syndromes	Waddling gait, Recurrent respiratory infections, Cyanosis, Sudden episodic apnea, Ataxia, Polyhyd...	ORPHA:98914
Interstitial Lung And Liver Disease	Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, D...	OMIM:615486
Triosephosphate Isomerase Deficiency	Normocytic anemia, Optic disc pallor, Hemolytic anemia, Macrocytic anemia, Respiratory distress, ...	OMIM:615512
Donohue Syndrome	Precocious puberty, Adipose tissue loss, Hyperinsulinemia, Cholestasis, Severe failure to thrive,...	OMIM:246200
Mucopolysaccharidosis-Plus Syndrome	Respiratory distress, Hepatomegaly, Recurrent respiratory infections, Splenomegaly, Thrombocytope...	OMIM:617303
Atrial Septal Defect, Ostium Primum Type	First degree atrioventricular block, Tachypnea, Atrioventricular block, Fixed splitting of the se...	ORPHA:99106
Eisenmenger Syndrome	Respiratory distress, Elevated circulating C-reactive protein concentration, Ventricular tachycar...	ORPHA:97214
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Decreased motor nerve conduction velocity, Hepatomegaly, Facial palsy, Aplasia/Hypoplasia of the ...	ORPHA:456312
Seizures, Benign Familial Infantile, 3	Cyanosis, Apnea	OMIM:607745
Mitochondrial Trifunctional Protein Deficiency	Hypoparathyroidism, Tricuspid regurgitation, Failure to thrive in infancy, Congestive heart failu...	ORPHA:746
Neuralgic Amyotrophy	Acrocyanosis, Respiratory insufficiency, Cleft palate	ORPHA:2901
Hyperproinsulinemia	Hyperglycemia, Hyperinsulinemia	OMIM:616214
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Nonketotic hypoglycemia, Increased circulating free fatty acid level, Large for gestational age, ...	ORPHA:293964
Dopamine Beta-Hydroxylase Deficiency	Abnormal EKG, Orthostatic hypotension, Hypoglycemia, Dyspnea, Insulin resistance, Elevated circul...	ORPHA:230
Surfactant Metabolism Dysfunction, Pulmonary, 1	Neonatal respiratory distress, Cyanosis, Apnea, Dyspnea, Desquamative interstitial pneumonitis, T...	OMIM:265120
Seckel Syndrome 10	Retinal detachment, Acute pancreatitis, Hypertriglyceridemia, Diabetes mellitus, Elevated circula...	OMIM:617253
Holocarboxylase Synthetase Deficiency	Respiratory distress, Ataxia, Eczema, Anorexia, Tachypnea, Hyperammonemia, Keratoconjunctivitis, ...	ORPHA:79242
Laryngotracheal Angioma	Respiratory distress, Cyanosis, Intercostal retractions, Apnea, Wheezing, Stridor, Cough	ORPHA:137935
Coenzyme Q10 Deficiency, Primary, 8	Respiratory distress, Small for gestational age, Flexion contracture, Elevated circulating creati...	OMIM:616733
Acyl-Coa Dehydrogenase 9 Deficiency	Acute hepatic failure, Elevated hepatic transaminase, Nonketotic hypoglycemia, Sudden cardiac dea...	ORPHA:99901
Seizures, Benign Familial Infantile, 1	Cyanosis, Apnea	OMIM:601764
Tempi Syndrome	Transudative pleural effusion, Facial erythema, Hypoxemia, Telangiectasia, Intracranial hemorrhag...	ORPHA:284227
Cardiomyopathy, Dilated, 1Gg	Respiratory distress, Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ...	OMIM:613642
3-Methylglutaconic Aciduria, Type Viib	Respiratory distress, Ataxia, Polyhydramnios, Neonatal hypoglycemia, Congestive heart failure, Fl...	OMIM:616271
Wilson Disease	Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Edema, Osteoarthritis, ...	OMIM:277900
Bardet-Biedl Syndrome 19	Cone/cone-rod dystrophy, Obesity, Hypogonadism, Rod-cone dystrophy, Hepatic steatosis	OMIM:615996
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome	Acrocyanosis	ORPHA:86918
Congenital Myopathy 22B, Severe Fetal	Respiratory distress, Hip contracture, Hepatomegaly, Waddling gait, Limb joint contracture, Shoul...	OMIM:620369
White Sponge Nevus 2	Edema	OMIM:615785
3-Methylglutaconic Aciduria, Type V	Prolonged QT interval, Noncompaction cardiomyopathy, Ataxia, Elevated circulating aspartate amino...	OMIM:610198
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures	Respiratory distress, Inability to walk, Joint contracture	OMIM:617977
Combined Oxidative Phosphorylation Deficiency 9	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Dyspnea, Elevated ci...	OMIM:614582
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Respiratory distress, Hepatomegaly, Ataxia, Tachypnea, Optic atrophy, Dilated cardiomyopathy, Res...	OMIM:614299
Developmental And Epileptic Encephalopathy 30	Respiratory distress, Abnormal repetitive mannerisms	OMIM:616341
Dpm1-Cdg	Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Ataxia, Elevated circulating crea...	ORPHA:79322
Laryngotracheoesophageal Cleft	Recurrent respiratory infections, Neonatal respiratory distress, Cyanosis, Dyspnea, Stridor, Coug...	ORPHA:2004
Hellp Syndrome	Elevated hepatic transaminase, Hemolytic anemia, Decreased mean corpuscular hemoglobin concentrat...	ORPHA:244242
Matthew-Wood Syndrome	Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Duodenal stenosis, Abnormal spleen morphology...	ORPHA:2470
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Hypoglycemia, Small for gestational age, Precocious puberty, Insulin-resistant diabetes mellitus,...	OMIM:262190
Patent Ductus Venosus	Hyperammonemia, Congenital portosystemic venous shunt, Hypergalactosemia, Decreased liver functio...	OMIM:601466
Hereditary Methemoglobinemia	Cyanosis, Small for gestational age, Athetosis, Methemoglobinemia, Exertional dyspnea	ORPHA:621
Gaucher Disease, Perinatal Lethal	Respiratory distress, Hepatomegaly, Decreased body weight, Apnea, Nonimmune hydrops fetalis, Poly...	OMIM:608013
Farber Disease	Respiratory distress, Intrahepatic cholestasis with episodic jaundice, Nodular pattern on pulmona...	ORPHA:333
Myotonic Dystrophy 1	Respiratory distress, Atrial flutter, Atrial fibrillation, Polyhydramnios, First degree atriovent...	OMIM:160900
Fructose-1,6-Bisphosphatase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Respiratory distress, Tachycardia, Intermittent hype...	ORPHA:348
Pulmonary Alveolar Proteinosis, Acquired	Brain abscess, Recurrent respiratory infections, Lung abscess, Cyanosis, Pneumonia, Dyspnea, Intr...	OMIM:610910
Congenital Bile Acid Synthesis Defect Type 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, ...	ORPHA:79303
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Respiratory distress, Neuromuscular dysphagia, Falls, Bradykinesia	ORPHA:240085
Rajab Interstitial Lung Disease With Brain Calcifications 1	Tachypnea, Hypoalbuminemia, Hypocalcemia, High palate, Cough, Gastroesophageal reflux, Emphysema,...	OMIM:613658
Ovarian Fibroma	Mesenteric cyst, Peritonitis, Ascites, Pleural effusion	ORPHA:314473
Mandibuloacral Dysplasia With Type A Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hepatomegaly, ...	OMIM:248370
Hypoadrenocorticism, Familial	Hyponatremia, Cyanosis, Apnea, Hypoglycemia, Adrenal hypoplasia, Hyperkalemia, Adrenal insufficiency	OMIM:240200
Myasthenia Gravis	Hemolytic anemia, Myositis, Hyperthyroidism, Pure red cell aplasia, Raynaud phenomenon, Dyspnea, ...	ORPHA:589
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatomegaly, Decreased response to growth hormone stimulation test, Retroperitoneal fibrosis, Sp...	OMIM:602782
Aicardi-Goutieres Syndrome 7	Atrophic gastritis, Generalized lymphadenopathy, Edema, Hepatic steatosis, Hypothyroidism, Hepato...	OMIM:615846
Atelis Syndrome 2	Remnants of the hyaloid vascular system, Dyspnea, Elevated circulating thyroid-stimulating hormon...	OMIM:620185
Venular Insufficiency, Systemic	Cyanosis	OMIM:192700
Sulfhemoglobinemia, Congenital	Cyanosis	OMIM:185460
X-Linked Centronuclear Myopathy	Respiratory distress, Respiratory failure requiring assisted ventilation, Recurrent respiratory i...	ORPHA:596
Muscular Dystrophy, Congenital, With Or Without Seizures	Respiratory distress, Ataxia, Elevated circulating creatine kinase concentration, Respiratory fai...	OMIM:620166
Dextrocardia	Meckel diverticulum, Intestinal malrotation, Abnormality of the spleen, Abnormality of abdominal ...	ORPHA:1666
Autosomal Dominant Keratitis	Hypoplasia of the fovea, Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Co...	ORPHA:2334
Mitochondrial Neurogastrointestinal Encephalomyopathy	Elevated hepatic transaminase, Abnormality of the gastrointestinal tract, Small intestinal dysmot...	ORPHA:298
Atrial Septal Defect, Ostium Secundum Type	Bundle branch block, First degree atrioventricular block, Pedal edema, Abnormal left ventricular ...	ORPHA:99103
Aicardi-Goutieres Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Diabetes insipidus, Chilblains, Petechiae, Splenomeg...	OMIM:225750
Double Outlet Right Ventricle	Hypoparathyroidism, Tachycardia, Cyanosis, Intestinal malrotation, Submucous cleft hard palate, T...	ORPHA:3426
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	Respiratory distress	ORPHA:171703
Lethal Osteosclerotic Bone Dysplasia	Respiratory distress, Dyspnea, Respiratory failure, Median cleft lip and palate	ORPHA:1832
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Microvesicular hepatic steatosis, High palate, Hepatic steatosis, Accessory spleen, Hepatomegaly,...	OMIM:619418
Lysosomal Acid Lipase Deficiency	Adrenal calcification, Bone-marrow foam cells, Microvesicular hepatic steatosis, Vacuolated lymph...	ORPHA:275761
Acquired Methemoglobinemia	Respiratory distress, Tachycardia, Cyanosis, Dyspnea, Hypoxemia, Syncope, Palpitations, Arrhythmi...	ORPHA:464453
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Edema, Unsteady gait, Gait ataxia, Normochromic anemia, Anasarca, Hypoalbuminemia, Dysphagia, Ple...	OMIM:254900
Primary Hepatic Neuroendocrine Carcinoma	Intrahepatic cholestasis with episodic jaundice, Anorexia, Elevated carcinoembryonic antigen leve...	ORPHA:100085
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Elevated hepatic transaminase, Hepatomegaly, Respiratory distress, Recurrent respiratory infectio...	ORPHA:329178
Rabson-Mendenhall Syndrome	Fasting hyperinsulinemia, Premature graying of hair, High palate, Fasting hypoglycemia, Hypothyro...	ORPHA:769
Bullous Dystrophy, Hereditary Macular Type	Acrocyanosis	OMIM:302000
Bdv Syndrome	Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Hyperinsulinemia, Obe...	OMIM:619326
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas...	OMIM:619466
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Polyhydramnios, Asplenia, Abnormal lung lobation, Neonatal death, Neonatal respiratory distress, ...	OMIM:265380
Respiratory Distress Syndrome In Premature Infants	Respiratory distress, Neonatal respiratory distress, Edema, Dyspnea, Atelectasis, Tachypnea, Pulm...	OMIM:267450
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hepatomegaly, Ataxia, Respiratory insufficiency due to muscle weakness, Optic atrophy, Pigmentary...	ORPHA:436271
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Respiratory distress, Hepatomegaly, Osteomyelitis, Skin rash, Neutrophilia, Abscess, Elevated cir...	OMIM:612852
Peripartum Cardiomyopathy	Crackles, Ventricular tachycardia, Pedal edema, Left bundle branch block, Abnormal T-wave, Dilate...	ORPHA:563
Chylomicron Retention Disease	Elevated hepatic transaminase, Hypertriglyceridemia, Acanthocytosis, Steatorrhea, Fat malabsorpti...	ORPHA:71
Atypical Werner Syndrome	Fasting hyperinsulinemia, Premature graying of hair, Hyperglycemia, Abnormality of the pulmonary ...	ORPHA:79474
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Tachypnea, Ventricular tachycardia, Atrioventricular block, Cough...	ORPHA:137675
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Small for gestationa...	OMIM:617093
Brain-Lung-Thyroid Syndrome	Respiratory distress, Thyroid dysgenesis, Elevated circulating thyroid-stimulating hormone concen...	ORPHA:209905
Congenital Tracheomalacia	Apnea, Tracheobronchomalacia, Gastroesophageal reflux, Cough, Emphysema, Neonatal respiratory dis...	ORPHA:95430
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Respiratory distress, Ataxia	OMIM:619099
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Ocular anterior segment dysgenesis, Retinal dysplasia, Coloboma, Developmental cataract	ORPHA:324416
Dihydropyrimidine Dehydrogenase Deficiency	Hyperactivity, Optic atrophy, Coloboma, Lethargy, Failure to thrive	OMIM:274270
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hypoglycemia, Hyperlipidemia, Por...	ORPHA:369
Liver Disease, Severe Congenital	Chronic gastritis, Biliary hyperplasia, Abnormal left ventricular function, Leukopenia, Protein-l...	OMIM:619991
Toxic Epidermal Necrolysis	Acute hepatic failure, Respiratory distress, Intestinal perforation, Conjunctivitis, Cough, Neutr...	ORPHA:537
Hyperimmunoglobulinemia D With Periodic Fever	Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Ataxia, Peritonitis, Erythema,...	ORPHA:343
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Respiratory distress, Failure to thrive, Lipoatrophy, Oligohydramnios	ORPHA:261304
Craniofaciofrontodigital Syndrome	Respiratory distress, Edema, Polyhydramnios, Large for gestational age, Gastrointestinal dysmotil...	ORPHA:363705
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Abnormal cardiac ventricular function, Paroxysmal atrial fibrillation, Tricuspid re...	ORPHA:1677
Immunodeficiency 40	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Rectal fistula, Resp...	OMIM:616433
Ethylene Glycol Poisoning	Prolonged QT interval, Shock, Tachycardia, Cyanosis, Gastritis, Ataxia, Atrial fibrillation, Cong...	ORPHA:31826
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hepatomegaly, Intestinal obstruction, Generalized edema, Edema, Malabsorption, Pulmonary embolism...	OMIM:226300
X-Linked Acrogigantism	Decreased thyroid-stimulating hormone level, Abnormal optic chiasm morphology, Enlarged pituitary...	ORPHA:300373
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Respiratory distress, Waddling gait, Elevated circulating creatine kinase concentration, Dyspnea,...	ORPHA:86812
Short Stature, Dauber-Argente Type	Fasting hyperinsulinemia, Increased insulin like growth factor binding protein acid labile subuni...	OMIM:619489
Isolated Right Ventricular Hypoplasia	Cyanosis, Tricuspid regurgitation, Abnormal atrioventricular conduction, Right ventricular failur...	ORPHA:439
Lymphangiectasia, Intestinal	Intestinal lymphangiectasia, Edema, Pedal edema	OMIM:152800
Pancreatitis, Hereditary	Diabetes mellitus, Pancreatic calcification, Pancreatic pseudocyst, Steatorrhea, Pleural effusion...	OMIM:167800
Mitochondrial Complex I Deficiency, Nuclear Type 1	Optic disc pallor, Hepatomegaly, Cyanosis, Apnea, Hypoglycemia, Optic neuropathy, Ataxia, Failure...	OMIM:252010
Lissencephaly Syndrome, Norman-Roberts Type	Respiratory distress, Hypoplastic spleen, Abnormal retinal morphology, Dysphagia	ORPHA:89844
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Abnormality of the gastrointestinal tract, Gastrointestinal dysmotility, Increased nuchal translu...	ORPHA:453499
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hypoglycemic seizures, Inflammation of the large intestine, Periodontitis, Hepatic steatosis, Hyp...	ORPHA:79259
Osteootohepatoenteric Syndrome	Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Microvesicular hep...	OMIM:619377
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Cyanosis, Apnea, Ataxia, Impulsivity, Protruding tongue, Aggressive behavior, Inability to walk, ...	OMIM:619580
Hereditary Angioedema Type 1	Respiratory distress, Tongue edema, Intestinal edema, Pharyngeal edema, Edema of the dorsum of ha...	ORPHA:100050
Glycogen Storage Disease Iv	Portal hypertension, Edema, Polyhydramnios, Esophageal varix, Hydrops fetalis, Hepatosplenomegaly...	OMIM:232500
Alkuraya-Kucinskas Syndrome	Edema, Pericardial effusion, High palate, Camptodactyly, Arthrogryposis multiplex congenita, Pleu...	OMIM:617822
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome	Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Ab...	ORPHA:210136
Pontocerebellar Hypoplasia, Type 11	Recurrent respiratory infections, Broad-based gait, Ataxia, Inability to walk, Limb ataxia, Colob...	OMIM:617695
Srd5A3-Cdg	Elevated hepatic transaminase, Cataract, Optic disc hypoplasia, Decreased response to growth horm...	ORPHA:324737
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Ocular anterior segment dysgenesis, Iris coloboma, Coloboma, Peters anomaly	OMIM:610023
Majeed Syndrome	Hepatomegaly, Inflammatory abnormality of the skin, Osteomyelitis, Acne, Edema, Congenital hypopl...	ORPHA:77297
Postsynaptic Congenital Myasthenic Syndromes	Orthopnea, Reduced vital capacity, Cyanosis, Restrictive ventilatory defect, Respiratory failure,...	ORPHA:98913
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Failure to thrive, Impaired glucose tolerance, Atrioventricular block, Glucose intolerance, Joint...	OMIM:614407
Microphthalmia, Isolated 4	Coloboma, Absent testis	OMIM:613094
Folinic Acid-Responsive Seizures	Respiratory distress, Broad-based gait, Apnea, Ataxia, Optic atrophy, Difficulty walking	ORPHA:79097
Lethal Recessive Chondrodysplasia	Respiratory distress, Macroglossia, Polyhydramnios, Edema	ORPHA:1423
3-Methylglutaconic Aciduria Type 7	Elevated hepatic transaminase, Hypothyroidism, Pneumothorax, Choreoathetosis, Cardiomyopathy, Res...	ORPHA:445038
17Q12 Microdeletion Syndrome	Elevated hepatic transaminase, Cryptorchidism, Oligohydramnios, Pancreatic aplasia	ORPHA:261265
Congenital Disorder Of Glycosylation, Type Ig	Respiratory distress, Retinal detachment, Hypoglycemia, Small for gestational age, Edema, Polyhyd...	OMIM:607143
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Lethargy, Hepatic steatosis, Cerebral ...	OMIM:201450
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Elevated hepatic transaminase, Diabetes mellitus, Cholestasis, Hepatosplenomegaly, Decreased seru...	ORPHA:541423
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Respiratory distress, Hepatomegaly, Recurrent respiratory infections, Inability to walk, Flexion ...	OMIM:619383
Nipah Virus Disease	Respiratory distress, Anorexia, Recurrent pharyngitis, Hypotension, Cough, Infectious encephalitis	ORPHA:99825
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Elevated hepatic transaminase, Hepatomegaly, Waddling gait, Restrictive ventilatory defect, Abnor...	ORPHA:369840
Combined Oxidative Phosphorylation Deficiency 21	Neonatal death, Hyperalaninemia, Hepatic steatosis, Hyperprolinemia	OMIM:615918
Drug Reaction With Eosinophilia And Systemic Symptoms	Acute hepatic failure, Elevated hepatic transaminase, Skin rash, Eosinophilia, Cardiac arrest, Pu...	ORPHA:139402
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H...	ORPHA:247598
Combined Oxidative Phosphorylation Deficiency 11	Hepatomegaly, Polyhydramnios, Cardiomyopathy, Respiratory failure, Stillbirth, Decreased liver fu...	OMIM:614922
Combined Oxidative Phosphorylation Deficiency 37	Elevated hepatic transaminase, Hypoglycemia, Chorioretinal hyperpigmentation, Optic atrophy, Resp...	OMIM:618329
Benign Familial Infantile Epilepsy	Cyanosis, Apnea	ORPHA:306
19P13.12 Microdeletion Syndrome	Aortic regurgitation, Hyperactivity, Precocious puberty, Hypothyroidism, Hyperlipidemia, Obesity,...	ORPHA:254346
Methylmalonic Aciduria, Cblb Type	Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Respiratory distress, Hyperammonemia, Dehydra...	OMIM:251110
Infantile-Onset X-Linked Spinal Muscular Atrophy	Respiratory distress, Hip contracture, Interphalangeal joint contracture of finger, Ankle flexion...	ORPHA:1145
Multiple Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Hepatomegaly, Hypoglycemia, Jaundice, Pulmonary hypoplasia, Glycosuria, Neo...	OMIM:231680
Rotor Syndrome	Conjugated hyperbilirubinemia, Jaundice, Intermittent jaundice, Hyperbilirubinemia, Storage in he...	ORPHA:3111
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	ORPHA:228305
Combined Oxidative Phosphorylation Defect Type 23	Wolff-Parkinson-White syndrome, Cyanosis, Congestive heart failure, Severely reduced left ventric...	ORPHA:444013
Lymphoid Interstitial Pneumonia	Crackles, Abnormality of connective tissue, Cough, Decreased DLCO, Hepatomegaly, Multiple pulmona...	ORPHA:79128
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Decreased response to growth hormone stimulation test, Gastrointestinal dysmotility, Gonadotropin...	ORPHA:293987
Progressive Supranuclear Palsy-Corticobasal Syndrome	Respiratory distress, Bradykinesia, Dysphagia	ORPHA:240103
Shwachman-Diamond Syndrome	Elevated hepatic transaminase, Hepatomegaly, Hypopituitarism, Decreased response to growth hormon...	ORPHA:811
Cardiomyopathy, Familial Hypertrophic, 4	Respiratory distress, Hepatomegaly, Transient ischemic attack, Cardiac arrest, First degree atrio...	OMIM:115197
Mogs-Cdg	Respiratory distress, Hepatomegaly, Hypoventilation, Pulmonary edema, Apnea, Edema, Polyhydramnio...	ORPHA:79330
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Respiratory distress, Cachexia, Weight loss, Gait ataxia, Failure to thrive	OMIM:612075
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Pancreatic fibrosis, Intestinal malrotation, Malformation of the hepatic ductal pla...	OMIM:208540
Combined Oxidative Phosphorylation Deficiency 19	Respiratory distress, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration...	OMIM:615595
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Waddling gait, Elevated circulating creatine kinase concentration, Congestive heart failure, Card...	ORPHA:52430
Autoimmune Pulmonary Alveolar Proteinosis	Abnormal circulating protein concentration, Cyanosis, Crazy paving pattern, Crackles, Dyspnea, In...	ORPHA:747
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Respiratory distress, Restlessness, Inguinal hernia, Edema of the dorsum of feet, Edema of the do...	ORPHA:544503
Bangstad Syndrome	Ataxia, Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cortisol le...	ORPHA:1227
Pancreatic And Cerebellar Agenesis	Pancreatic hypoplasia, Optic nerve hypoplasia, Pancreatic aplasia	OMIM:609069
Sea-Blue Histiocytosis	Hepatomegaly, Petechiae, Edema, Splenomegaly, Mediastinal lymphadenopathy, Blepharitis, Sea-blue ...	ORPHA:158029
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6	Respiratory distress, Paradoxical respiration, Plantar flexion contracture, Arthrogryposis-like h...	OMIM:620011
Gitelman Syndrome	Respiratory distress, Maternal diabetes, Tubulointerstitial nephritis, Iron deficiency anemia, Gl...	ORPHA:358
Congenital Diaphragmatic Hernia	Respiratory distress, Intestinal malrotation, Congenital diaphragmatic hernia, Hypoxemia, Pulmona...	ORPHA:2140
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Hepatomegaly, Villous atrophy, Small for gestational age, Portal h...	ORPHA:567983
Cocaine Intoxication	Respiratory distress, Prolonged QRS complex, Elevated circulating creatine kinase concentration, ...	ORPHA:90068
Congenital Tracheal Stenosis	Respiratory distress, Cyanosis, Polyhydramnios, Abnormal stomach morphology, Fetal ascites, Neona...	ORPHA:141127
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Inguinal hernia, Cutis marmorata, Myocardial infarction, Hyperhomocystinemia, High palate, Hyperm...	OMIM:236200
Multiple Myeloma	Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Functional abnormalit...	ORPHA:29073
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Increased serum pyruvate, Hepatomegaly, Respiratory distress, Cardiac arrest, High palate, Lethar...	OMIM:604377
Tetrasomy 5P	Respiratory distress, Pericallosal lipoma, Recurrent respiratory infections, Cyanosis, Congestive...	ORPHA:3309
Congenital Disorder Of Glycosylation, Type Iy	Respiratory distress, Failure to thrive	OMIM:300934
Hypermethioninemia Due To Adenosine Kinase Deficiency	Elevated circulating creatine kinase concentration, Elevated circulating alanine aminotransferase...	OMIM:614300
Prader-Willi Syndrome	Hypoventilation, Recurrent respiratory infections, Hypogonadotropic hypogonadism, Decreased respo...	OMIM:176270
Isolated Permanent Neonatal Diabetes Mellitus	Pancreatic hypoplasia, Retinopathy, Reduced pancreatic beta cells, Dehydration	ORPHA:99885
Postinfectious Vasculitis	Elevated circulating C-reactive protein concentration, Anorexia, Gastrointestinal inflammation, U...	ORPHA:48435
Exfoliation Syndrome	Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab...	OMIM:177650
American Trypanosomiasis	Hepatomegaly, Skin rash, Aganglionic megacolon, Edema, Periorbital edema, Myocarditis, Splenomega...	ORPHA:3386
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Respiratory distress, Flexion contracture, Leukopenia, Conjunctivitis, Hypoalbuminemia, Hernia, T...	ORPHA:505248
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr...	OMIM:618528
Hemophagocytic Lymphohistiocytosis, Familial, 2	Edema, Leukopenia, Hypoalbuminemia, Infectious encephalitis, Hyponatremia, Hepatomegaly, Ataxia, ...	OMIM:603553
Congenital Fibrinogen Deficiency	Tachycardia, Cyanosis, Splenic rupture, Volvulus, Bruising susceptibility, Internal hemorrhage, S...	ORPHA:335
Dysbetalipoproteinemia	Hepatomegaly, Acute pancreatitis, Decreased HDL cholesterol concentration, Hypertriglyceridemia, ...	ORPHA:412
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Acute hyperammonemia, Apnea, Hypoglycemia, Acute hepatic steatosis, Lethargy, Failure to thrive	OMIM:210200
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Respiratory distress, Hepatomegaly, Respiratory failure requiring assisted ventilation, Elevated ...	ORPHA:308552
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Elevated hepatic transaminase, Pyloric stenosis, Jaundice, Aplasia/Hypoplasia of the pancreas, Ab...	ORPHA:93111
Infantile Liver Failure Syndrome 1	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Macrocytic anemia, Failure to...	OMIM:615438
Steinert Myotonic Dystrophy	Intestinal pseudo-obstruction, Decreased response to growth hormone stimulation test, Polyhydramn...	ORPHA:273
Choanal Atresia	Respiratory distress, Recurrent respiratory infections, Cyanosis, Upper airway obstruction, Choki...	ORPHA:137914
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Limb joint contracture, Failure to thrive in infancy, Ankle flexion contracture, Hyposerinemia, K...	ORPHA:284417
Moebius Syndrome	Respiratory distress, Hypogonadotropic hypogonadism, Dysdiadochokinesis, High palate, Gait distur...	OMIM:157900
Abruzzo-Erickson Syndrome	Cryptorchidism, Cleft palate, Microcornea, Coloboma, Chorioretinal coloboma, Iris coloboma	ORPHA:921
Duodenal Atresia	Abnormality of the pancreas, Annular pancreas, Polyhydramnios, Duodenal atresia	ORPHA:1203
Dilated Cardiomyopathy With Ataxia	Elevated hepatic transaminase, Prolonged QT interval, Ataxia, Microvesicular hepatic steatosis, R...	ORPHA:66634
Glycogen Storage Disease Due To Acid Maltase Deficiency	Respiratory distress, Elevated circulating creatine kinase concentration, Flexion contracture, He...	ORPHA:365
Acquired Purpura Fulminans	Shock, Skin rash, Elevated circulating C-reactive protein concentration, Intracranial hemorrhage,...	ORPHA:49566
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Neonatal respiratory distress, Elevated circulating creatine kinase concentration, ...	ORPHA:228308
Cimdag Syndrome	Hepatomegaly, Retinal dystrophy, Lipodystrophy, Ataxia, Microvesicular hepatic steatosis, Hypogon...	OMIM:619273
Necrotizing Enterocolitis	Hyponatremia, Shock, Apnea, Small for gestational age, Edema, Leukocytosis, Peritonitis, Bradycar...	ORPHA:391673
Beta-Ketothiolase Deficiency	Hepatomegaly, Hypoglycemia, Ataxia, Edema, Anorexia, Leukocytosis, Tachypnea, Hyperammonemia, Deh...	ORPHA:134
Campomelia, Cumming Type	Pancreatic cysts, Polycystic liver disease, Polysplenia, Lymphedema	OMIM:211890
Mitochondrial Complex I Deficiency, Nuclear Type 20	Elevated hepatic transaminase, Hypoglycemia, Microvesicular hepatic steatosis, Thrombocytopenia, ...	OMIM:611126
Neutral Lipid Storage Disease With Ichthyosis	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Ataxia, Micronodular cirrhosis...	ORPHA:98907
Autosomal Erythropoietic Protoporphyria	Cholelithiasis, Decreased liver function, Cirrhosis, Edema	ORPHA:79278
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive	Respiratory distress, Failure to thrive, Lymphocytic interstitial pneumonia, Decreased response t...	OMIM:245590
Auriculocondylar Syndrome 2A	Respiratory distress, Apnea, Cleft palate, Glossoptosis, Microglossia	OMIM:614669
Alström Syndrome	Respiratory distress, Decreased response to growth hormone stimulation test, Elevated circulating...	ORPHA:64
Keppen-Lubinsky Syndrome	Lack of facial subcutaneous fat, Polyhydramnios, Decreased serum leptin, Progeroid facial appeara...	OMIM:614098
Leprechaunism	Reduced subcutaneous adipose tissue, Hepatomegaly, Rectal prolapse, Insulin resistance, Hyperinsu...	ORPHA:508
Laryngeal Abductor Paralysis	Stridor, Cyanosis, Dysphagia	OMIM:150260
Idiopathic Copper-Associated Cirrhosis	Decreased circulating ceruloplasmin concentration, Copper accumulation in liver, Cirrhosis, Incre...	ORPHA:209919
Estrogen Resistance	Increased circulating osteocalcin level, Impaired glucose tolerance, Acne, Hyperinsulinemia, Incr...	OMIM:615363
Methylmalonic Aciduria, Cbla Type	Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Respiratory distress, Hyperammonemia, Dehydra...	OMIM:251100
Arima Syndrome	Hepatomegaly, Retinal dystrophy, Ataxia, Dyspnea, Tachypnea, Optic atrophy, Esophageal varix, Hyp...	OMIM:243910
Brown-Vialetto-Van Laere Syndrome 1	Respiratory distress, Respiratory failure requiring assisted ventilation, Tongue atrophy, Recurre...	OMIM:211530
Hypoglossia With Situs Inversus	Respiratory distress, Asplenia, Upper airway obstruction, High palate, Polysplenia, Microglossia	OMIM:612776
Kniest Dysplasia	Respiratory distress, Hip contracture, Inguinal hernia, Retinal detachment, Tracheomalacia, Cleft...	OMIM:156550
Hypothyroidism Due To Tsh Receptor Mutations	Thyroid hypoplasia, Increased circulating thyroglobulin level, Edema, Goiter, Elevated circulatin...	ORPHA:90673
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Elevated hepatic transaminase, Hepatomegaly, Methylmalonic acidemia, Respiratory distress, Apnea,...	ORPHA:17
Atrial Septal Defect, Coronary Sinus Type	Bundle branch block, Cyanosis, Left-to-right shunt, Pneumonia, Abnormally loud pulmonic component...	ORPHA:99104
Lymphatic Malformation 10	Lymphedema	OMIM:619369
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Respiratory failure requiring assisted ventilation, Cyanosis, Tricuspid regurgitati...	ORPHA:555874
Gaisböck Syndrome	Plethora, Myocardial infarction, Increased circulating renin level, Cholecystitis, Overweight, In...	ORPHA:90041
Listeriosis	Respiratory distress, Liver abscess, Abnormal cellular immune system morphology, Granulomatosis, ...	ORPHA:533
Estrogen Resistance Syndrome	Acne, Increased circulating gonadotropin level, Absence of secondary sex characteristics, Hyperin...	ORPHA:785
Immunodeficiency 47	Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Normocytic anemia, Decreased circu...	OMIM:300972
Citrullinemia, Type Ii, Neonatal-Onset	Hypertyrosinemia, Decreased HDL cholesterol concentration, Failure to thrive, Hypertriglyceridemi...	OMIM:605814
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Spherocytosis, Hyperinsulinemia	ORPHA:66518
Restrictive Dermopathy 2	Respiratory distress, Rectal prolapse, Cyanosis, Gastroesophageal reflux	OMIM:619793
Anterior Segment Dysgenesis 2	Cataract, Corneal opacity, Sclerocornea, Microcornea, Coloboma, Posterior synechiae of the anteri...	OMIM:610256
Mixed Connective Tissue Disease	Myositis, Xerostomia, Leukopenia, Gastroesophageal reflux, Hepatomegaly, Hemolytic anemia, Medias...	ORPHA:809
Renal Cysts And Diabetes Syndrome	Elevated hepatic transaminase, Abnormality of alkaline phosphatase level, Biliary tract abnormali...	OMIM:137920
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Intestinal malrotation, Exocrine pancreatic insufficiency, Biliary atresia, Oligohydramnios, Apla...	ORPHA:2255
Neutral Lipid Storage Myopathy	Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Hypertrigly...	ORPHA:98908
Ileal Neuroendocrine Tumor	Edema, Iron deficiency anemia, Zollinger-Ellison syndrome, Intestinal fistula, Functional intesti...	ORPHA:100078
Alternating Hemiplegia Of Childhood	Abnormality of the gastrointestinal tract, Respiratory distress, Apnea, Ataxia, Anorexia, Oral-ph...	ORPHA:2131
Infantile Liver Failure Syndrome 3	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole...	OMIM:618641
Tuberous Sclerosis Complex	Respiratory distress, Pancreatic endocrine tumor, Chorioretinal hypopigmentation, Pheochromocytom...	ORPHA:805
Breath-Holding Spells	Iron deficiency anemia, Cyanosis	OMIM:607578
Granulomatosis With Polyangiitis	Sinusitis, Elevated circulating C-reactive protein concentration, Periorbital edema, Granulomatos...	ORPHA:900
Dermatomyositis	Abnormal eosinophil morphology, Edema, Myocardial infarction, Periorbital edema, Acrocyanosis, Va...	ORPHA:221
Proteasome-Associated Autoinflammatory Syndrome 4	Hepatomegaly, Myositis, Autoimmune hemolytic anemia, Edema, Splenomegaly, Flexion contracture, Er...	OMIM:619183
Bloom Syndrome	Small for gestational age, Elevated hemoglobin A1c, Recurrent upper respiratory tract infections,...	OMIM:210900
Benign Familial Neonatal Epilepsy	Circumoral cyanosis, Gastroesophageal reflux, Apnea	ORPHA:1949
Genetic Transient Congenital Hypothyroidism	Increased circulating thyroglobulin level, Abnormal radioactive iodine uptake test result, Edema,...	ORPHA:226316
Encephalopathy, Ethylmalonic	Failure to thrive, Ataxia, Abnormal retinal vascular morphology, Elevated circulating butyrylcarn...	OMIM:602473
Stt3B-Cdg	Respiratory distress, Failure to thrive, Optic atrophy, Thrombocytopenia	ORPHA:370924
Adrenomyodystrophy	Primary adrenal insufficiency, Failure to thrive, Hepatic steatosis, Abnormal intestine morphology	ORPHA:977
Telangiectasia, Hereditary Hemorrhagic, Type 2	Conjunctival telangiectasia, Tongue telangiectasia, Gastrointestinal arteriovenous malformation, ...	OMIM:600376
Congenital Disorder Of Glycosylation, Type Ix	Respiratory distress, Failure to thrive, Optic atrophy, Thrombocytopenia	OMIM:615597
Succinic Acidemia	Respiratory distress	OMIM:600335
Kallmann Syndrome-Heart Disease Syndrome	Aortic regurgitation, Cyanosis, Hypogonadotropic hypogonadism, Midgut malrotation, Congestive hea...	ORPHA:2326
Absence Of The Pulmonary Artery	Recurrent respiratory infections, Orthopnea, Cyanosis, Abnormal EKG, Atrial flutter, Tachycardia,...	ORPHA:980
Pmm2-Cdg	Respiratory distress, Multiple joint contractures, Lymphedema, Elevated circulating thyroid-stimu...	ORPHA:79318
Coach Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Optic disc pallor, Portal hypertension, Splenomegaly...	OMIM:216360
Colchicine Poisoning	Hyponatremia, Respiratory distress, Myocarditis, Leukocytosis, Congestive heart failure, Hypovole...	ORPHA:31824
Tetanus	Respiratory distress, Tachycardia, Elevated circulating creatine kinase concentration, Tachypnea,...	ORPHA:3299
Mitochondrial Dna-Associated Leigh Syndrome	Hepatomegaly, Failure to thrive, Apnea, Ataxia, Cardiac conduction abnormality, Rod-cone dystroph...	ORPHA:255210
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Cyanosis, Failure to thrive in infancy, Aggressive behavior, Tubulointerstitial nephritis, Gait d...	ORPHA:488627
Microlissencephaly-Micromelia Syndrome	Respiratory distress, Hypoparathyroidism, Palpebral edema, Polyhydramnios, Abnormal circulating c...	ORPHA:50810
Deafness, Unilateral, With Delayed Endolymphatic Hydrops	Edema	OMIM:612097
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Absent gallbladder, Exocrine pancreatic insufficiency, Elevated circulating alanine aminotransfer...	OMIM:618500
Telangiectasia, Hereditary Hemorrhagic, Type 1	Conjunctival telangiectasia, Tongue telangiectasia, Gastrointestinal arteriovenous malformation, ...	OMIM:187300
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Fulminant hepatic failure, Dilated cardiomyopathy, Hypoglycemic seizures, Hepatic necrosis, Hyper...	OMIM:231530
Oculocerebrofacial Syndrome, Kaufman Type	Respiratory distress, Chorioretinal dystrophy, High, narrow palate, Dyspnea, Optic atrophy, Respi...	ORPHA:2707
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Microvesicular hepatic steatosis, Hypotriglyceridemia, Hepatomegaly, Micronodular cirrhosis, Corn...	ORPHA:404454
Obesity-Hypoventilation Syndrome	Hypoventilation, Cyanosis, Obesity	OMIM:257500
Chiari Malformation Type Ii	Cyanosis, Ataxia, Inspiratory stridor, Dysphagia	OMIM:207950
Mercury Poisoning	Respiratory distress, Tachycardia, Anorexia, Dyspnea, Hypertension, Interstitial pneumonitis, Hyp...	ORPHA:330021
Congenital Analbuminemia	Lipodystrophy, Small for gestational age, Edema, Facial edema, Hyperlipidemia, Obesity, Pedal ede...	ORPHA:86816
Fucosidosis	Hepatomegaly, Failure to thrive, Lipoatrophy, Abnormality of the gallbladder, Vascular skin abnor...	ORPHA:349
Corneal Dystrophy, Fuchs Endothelial, 2	Corneal degeneration, Corneal dystrophy, Corneal guttata, Edema	OMIM:610158
Dravet Syndrome	Impulsivity, Bradykinesia, Progressive gait ataxia, Obsessive-compulsive trait, Cyanotic episode	ORPHA:33069
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	High, narrow palate, Coloboma, High palate, Tics, Otitis media, Chorioretinal coloboma, Compulsiv...	OMIM:619475
Noonan Syndrome 10	Mitral stenosis, Increased nuchal translucency, Hypertrophic cardiomyopathy, Mitral regurgitation...	OMIM:616564
Turner Syndrome Due To Structural X Chromosome Anomalies	Myocardial infarction, Lymphedema, High, narrow palate, Gastrointestinal inflammation, Glucose in...	ORPHA:99413
Mosaic Monosomy X	Myocardial infarction, Lymphedema, High, narrow palate, Gastrointestinal inflammation, Glucose in...	ORPHA:99228
Monosomy X	Myocardial infarction, Lymphedema, High, narrow palate, Gastrointestinal inflammation, Glucose in...	ORPHA:99226
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Respiratory distress, Recurrent respiratory infections, Aplasia/Hypoplasia of the tongue, Polyhyd...	ORPHA:2759
Turner Syndrome	Myocardial infarction, Lymphedema, High, narrow palate, Gastrointestinal inflammation, Glucose in...	ORPHA:881
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Hepatomegaly, Severe B lymphocytopenia, Biliary hyperplasia, Cryptorchidism, Pyloric stenosis, Cl...	ORPHA:83617
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Cyanosis, Methemoglobinemia, Polycythemia, Exertional dyspnea	OMIM:250800
Nestor-Guillermo Progeria Syndrome	Prominent superficial veins, Lipoatrophy, Decreased serum leptin, Progeroid facial appearance, Dy...	OMIM:614008
Glycogen Storage Disease Ixb	Hepatomegaly, Hypoglycemia, Splenomegaly, Increased muscle glycogen content, Hyperuricemia, Incre...	OMIM:261750
Microphthalmia, Syndromic 5	Ectopic posterior pituitary, Cataract, Retinal dystrophy, Optic nerve hypoplasia, Cryptorchidism,...	OMIM:610125
Facial Clefting, Oblique, 1	Coloboma, Cleft palate	OMIM:600251
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hypertriglyceridemia, Hepatitis, Cholestasis, Obesity, Increased LDL cholesterol concentration, A...	ORPHA:209902
Familial Nasal Acilia	Respiratory distress, Dyspnea, Atelectasis, Recurrent upper respiratory tract infections, Bronchi...	ORPHA:922
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Hepatomegaly, Diabetes mellitus, Pancreatic fibrosis, Ataxia, Hypothyroidism, Achilles tendon con...	OMIM:616263
Arterial Tortuosity Syndrome	Respiratory distress, Myocardial infarction, Gastroesophageal reflux, Femoral hernia, Prematurely...	ORPHA:3342
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Elevated hepatic transaminase, Hypertyrosinemia, Failure to thrive, Hypoglycemia, Cholangitis, At...	OMIM:124000
Plague	Respiratory distress, Chapped lip, Edema, Anorexia, Lymphadenitis, Acute infectious pneumonia, In...	ORPHA:707
Congenital Alveolar Capillary Dysplasia	Respiratory distress, Absent gallbladder, Aganglionic megacolon, Intestinal malrotation, Asplenia...	ORPHA:210122
Diaphanospondylodysostosis	Respiratory distress, Inguinal hernia, Increased nuchal translucency, Respiratory insufficiency, ...	OMIM:608022
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Recurrent respiratory infections, Failure to thr...	OMIM:618278
Congenital Disorder Of Glycosylation, Type Iq	Elevated hepatic transaminase, Coloboma, Cataract, Optic atrophy	OMIM:612379
D-Bifunctional Protein Deficiency	Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Polyhydramn...	OMIM:261515
Oculopharyngodistal Myopathy 1	Respiratory distress, Paroxysmal atrial fibrillation, Ataxia, Elevated circulating creatine kinas...	OMIM:164310
Ethylmalonic Encephalopathy	Ataxia, Acrocyanosis, Retinal vascular tortuosity, Failure to thrive, Petechiae	ORPHA:51188
Thrombotic Thrombocytopenic Purpura, Hereditary	Respiratory distress, Reticulocytosis, Transient ischemic attack, Myocardial infarction, Jaundice...	OMIM:274150
Hutchinson-Gilford Progeria Syndrome	Prominent superficial blood vessels, Myocardial infarction, Osteoarthritis, Intracranial hemorrha...	ORPHA:740
Castleman Disease	Abnormality of the gastrointestinal tract, Intestinal obstruction, Generalized lymphadenopathy, E...	ORPHA:160
Ogden Syndrome	Apnea, Maternal diabetes, Lymphedema, Microvesicular hepatic steatosis, Ventricular tachycardia, ...	OMIM:300855
Liver Failure, Infantile, Transient	Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Microvesicular hepatic steato...	OMIM:613070
Gracile Syndrome	Increased circulating ferritin concentration, Cholestasis, Cirrhosis, Elevated hepatic iron conce...	ORPHA:53693
Neuromuscular Oculoauditory Syndrome	Respiratory distress, Elevated circulating creatine kinase concentration, Chorioretinal lacunae, ...	OMIM:618733
Monosomy 13Q34	Epistaxis, Hypercalcemia, Insulin resistance, Obesity, Hematochezia, Pulmonic stenosis, Hepatic s...	ORPHA:96168
Pancreatic Agenesis-Holoprosencephaly Syndrome	Absent gallbladder, High palate, Decreased circulating lipoprotein lipase concentration, Pancreat...	ORPHA:556955
Congenital Macroglossia	Macroglossia, Hypothyroidism, Abnormal hepatic glycogen storage	ORPHA:2430
Digeorge Syndrome	High, narrow palate, Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia of the thymus...	OMIM:188400
Shwachman-Diamond Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Respiratory di...	OMIM:260400
Fanconi-Bickel Syndrome	Hepatomegaly, Failure to thrive, Hypertriglyceridemia, Diabetes mellitus, Elevated circulating as...	ORPHA:2088
Meckel Syndrome 14	Cyanosis, Tricuspid regurgitation, Increased nuchal translucency, Pneumothorax, Cardiorespiratory...	OMIM:619879
Japanese Encephalitis	Hyponatremia, Respiratory distress, Neutrophilia, Pulmonary edema, Anorexia, Elbow flexion contra...	ORPHA:79139
Laryngomalacia	Respiratory distress, Congenital laryngeal stridor	OMIM:150280
Dehydrated Hereditary Stomatocytosis	Edema, Portal vein thrombosis, Polycythemia, Congenital hemolytic anemia, Abnormal blood potassiu...	ORPHA:3202
Familial Multiple Lipomatosis	Lipodystrophy, Functional intestinal obstruction, Increased adipose tissue, Hyperlipidemia, Insul...	ORPHA:199276
Good Syndrome	Abnormal leukocyte morphology, Recurrent respiratory infections, Sinusitis, Recurrent skin infect...	ORPHA:169105
Primary Dystonia, Dyt4 Type	Respiratory distress, Eunuchoid habitus, Dysdiadochokinesis, Gait disturbance, Dysphagia	ORPHA:98805
Mitochondrial Complex I Deficiency, Nuclear Type 37	Respiratory distress, Inguinal hernia, High palate, Bradycardia, Pulmonary arterial hypertension,...	OMIM:619272
Nasolacrimal Duct Cyst	Intercostal retractions, Chronic irritative conjunctivitis, Periorbital edema, Episodic respirato...	ORPHA:141083
Heterotaxy, Visceral, 1, X-Linked	Omphalocele, Hepatomegaly, Respiratory distress, Bilateral trilobed lung, Cyanosis, Polyhydramnio...	OMIM:306955
Solitary Fibrous Tumor	Abnormal peritoneum morphology, Hypoglycemia, Reduced C-peptide level, Weight loss, Neoplasm of t...	ORPHA:2126
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Hyponatremia, Respiratory distress, Neonatal respiratory distress, Cyanosis, Apnea, Ataxia, Hypop...	OMIM:618426
Methemoglobinemia And Ambiguous Genitalia	Decreased circulating dehydroepiandrosterone-sulfate concentration, Cyanosis, Methemoglobinemia, ...	OMIM:250790
Aortic Arch Interruption	Respiratory distress, Aortic regurgitation, Shock, Cyanosis, Tricuspid regurgitation, Blood press...	ORPHA:2299
Tricuspid Atresia	Pulmonary artery atresia, Cyanosis	ORPHA:1209
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Apnea, Decreased response to growth hormone stimulation test, Fetal ascites, Flexion contracture,...	OMIM:619503
Tenorio Syndrome	Apnea, Hypoglycemia, Raynaud phenomenon, Recurrent pneumonia, Macroglossia, Keratoconjunctivitis ...	OMIM:616260
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Elevated hepatic transaminase, Hepatomegaly, Waddling gait, Ataxia, Elevated circulating creatine...	OMIM:615356
Proprotein Convertase 1/3 Deficiency	Villous atrophy, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hy...	OMIM:600955
Ramos-Arroyo Syndrome	Respiratory distress, Aganglionic megacolon, Keratitis, Absent retinal pigment epithelium, Xerost...	ORPHA:1051
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Respiratory distress, Brain abscess, Central apnea, Congestive heart failure, Respiratory failure...	OMIM:616482
Familial Dysautonomia	Abnormal peritoneum morphology, Hyponatremia, Recurrent respiratory infections, Orthostatic hypot...	ORPHA:1764
Biotinidase Deficiency	Respiratory distress, Skin rash, Apnea, Optic neuropathy, Ataxia, Optic atrophy, Hyperammonemia, ...	ORPHA:79241
Ciliary Dyskinesia, Primary, 2	Respiratory distress, Recurrent respiratory infections, Sinusitis, Bronchiectasis, Immotile cilia...	OMIM:606763
Igg4-Related Submandibular Gland Disease	Cholangitis, Eosinophilia, Retroperitoneal fibrosis, Facial edema, Periorbital edema, Xerostomia,...	ORPHA:449432
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Respiratory distress, Macrocytic anemia, Congenital diaphragmatic hernia, Cleft palate, Granulocy...	OMIM:606164
Tarp Syndrome	Broad-based gait, Extramedullary hematopoiesis, Apnea, Cyanosis, Failure to thrive, Optic atrophy...	ORPHA:2886
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Respiratory distress, Abnormality of the pancreas, Optic atrophy, Narrow palate, Cleft palate, An...	ORPHA:1555
Enhanced S-Cone Syndrome	Cataract, Edema, Macular edema, Pigmentary retinopathy, Vitreoretinopathy, Retinoschisis	OMIM:268100
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Abnormality of the liver, Polycythemia, Hepatomegaly, Abnormal blood inorganic cation concentrati...	ORPHA:309854
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Retinal dystrophy, Optic nerve hypoplasia, Cleft soft palate, Intestinal malrotation, Leukocytosi...	OMIM:619321
Cryofibrinogenemia, Familial Primary	Acrocyanosis	OMIM:123540
Heart Defects, Congenital, And Other Congenital Anomalies	Absent gallbladder, Intestinal malrotation, Biliary atresia, Colon perforation, Pancreatic hypopl...	OMIM:600001
Synaptic Congenital Myasthenic Syndromes	Respiratory distress, Hypoventilation, Neonatal respiratory distress, Waddling gait, Respiratory ...	ORPHA:98915
Pancreas, Annular	Annular pancreas, High intestinal obstruction, Duodenal stenosis	OMIM:167750
Annular Pancreas	Annular pancreas, High intestinal obstruction, Duodenal stenosis	ORPHA:675
Chitayat Syndrome	Respiratory distress, Recurrent respiratory infections, Polyhydramnios, Abnormal pulmonary inters...	OMIM:617180
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Cyanosis, Severe failure to thrive, High palate, Pulmonic stenosis, Recurrent otitis media	ORPHA:3304
Fructose Intolerance, Hereditary	Elevated hepatic transaminase, Hepatomegaly, Gastrointestinal hemorrhage, Hypoglycemia, Jaundice,...	OMIM:229600
Mgat2-Cdg	Impaired lymphocyte transformation with phytohemagglutinin, Respiratory distress, Abnormality of ...	ORPHA:79329
Severe Generalized Junctional Epidermolysis Bullosa	Respiratory distress, Recurrent skin infections, Pneumonia, Edema, Dyspnea, Esophageal stricture,...	ORPHA:79404
Spinal muscular atrophy, type I, with congenital bone fractures	Respiratory distress, Flexion contracture, High palate, Generalized edema	OMIM:271225
Glycogen Storage Disease Ixc	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Bi...	OMIM:613027
Aceruloplasminemia	Abnormal circulating enzyme concentration or activity, Abnormality of retinal pigmentation, Abnor...	ORPHA:48818
Meckel Syndrome	Accessory spleen, Cataract, Pancreatic fibrosis, Abnormal chorioretinal morphology, Sclerocornea,...	ORPHA:564
Congenital Disorder Of Glycosylation, Type Iiw	Elevated hepatic transaminase, Hepatomegaly, Inguinal hernia, Membranoproliferative glomeruloneph...	OMIM:619525
Smith-Lemli-Opitz Syndrome	Gastrointestinal dysmotility, Abnormal lung lobation, Hypoalbuminemia, Gastroesophageal reflux, H...	OMIM:270400
Combined Oxidative Phosphorylation Deficiency 12	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:614924
Diaphanospondylodysostosis	Respiratory distress, Cleft palate	ORPHA:66637
Acute Generalized Exanthematous Pustulosis	Elevated hepatic transaminase, Predominantly dermal neutrophilic infiltrate, Neutrophilia, Eosino...	ORPHA:293173
Myotubular Myopathy With Abnormal Genital Development	Respiratory distress, Polyhydramnios, Atelectasis, High palate, Neonatal death	OMIM:300219
1P36 Deletion Syndrome	Abnormality of the spleen, Abnormality of the liver, Gastroesophageal reflux, Hypothyroidism, Abn...	ORPHA:1606
Hyperoxaluria, Primary, Type I	Hyperoxaluria, Choroidal neovascularization, Cutis marmorata, Optic neuropathy, Retinal crystals,...	OMIM:259900
Myasthenic Syndrome, Congenital, 21, Presynaptic	Cyanosis, Apnea, Meconium ileus, Respiratory insufficiency, Knee flexion contracture, Difficulty ...	OMIM:617239
Buerger Disease	Vasculitis, Acrocyanosis	ORPHA:36258
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Inflammatory abnormality of the skin, Diabetes mellitus, Angina pectoris, Elevated ...	ORPHA:565612
Aicardi-Goutières Syndrome	Elevated hepatic transaminase, Myositis, Multiple joint contractures, Lipoatrophy, Chilblains, Di...	ORPHA:51
Agnathia-Otocephaly Complex	Respiratory distress, Polyhydramnios, Aglossia, Cleft palate, Pulmonary hypoplasia, Tracheomalaci...	OMIM:202650
Leukocyte Adhesion Deficiency	Sinusitis, Severe periodontitis, Conjunctivitis, Otitis media, Vaginitis, Polycythemia, Perianal ...	ORPHA:2968
Blau Syndrome	Xerostomia, Large vessel vasculitis, Abnormality of the liver, Posterior uveitis, Abnormal optic ...	ORPHA:90340
Neurodegeneration And Seizures Due To Copper Transport Defect	Respiratory distress, Tricuspid regurgitation, Pneumothorax, Abnormal circulating ceruloplasmin c...	OMIM:620306
Juvenile Polyposis Syndrome	Small intestinal polyposis, Juvenile gastrointestinal polyposis, Edema, Hamartomatous polyposis, ...	ORPHA:2929
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Respiratory distress, Retinal pigment epithelial mottling	OMIM:617102
Generalized Arterial Calcification Of Infancy	Respiratory distress, Choroidal neovascularization, Adrenal calcification, Edema, Polyhydramnios,...	ORPHA:51608
Congenital Lobar Emphysema	Respiratory distress, Emphysema	ORPHA:1928
Infantile Krabbe Disease	Respiratory distress, Cachexia, Optic atrophy, Abnormal heart rate variability, Respiratory failu...	ORPHA:206436
Mitochondrial Phosphate Carrier Deficiency	Hypertrophic cardiomyopathy, Cyanosis, Respiratory insufficiency	OMIM:610773
Joubert Syndrome 15	Retinopathy, Coloboma, Retinal dystrophy	OMIM:614464
Pitt-Hopkins Syndrome	Failure to thrive, Aganglionic megacolon, Ataxia, Hiatus hernia, Aggressive behavior, Gait ataxia...	ORPHA:2896
Kasabach-Merritt Syndrome	Respiratory distress, Reticulocytosis, Petechiae, Thrombocytopenia, Abnormal lymphatic vessel mor...	ORPHA:2330
Hyperparathyroidism, Transient Neonatal	Respiratory distress, Inguinal hernia, Hyperparathyroidism, Polyhydramnios, Gastroesophageal refl...	OMIM:618188
Developmental And Epileptic Encephalopathy 68	Respiratory distress, Failure to thrive, Flexion contracture	OMIM:618201
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Inguinal hernia, Hypoglycemia, Ataxia, Small for gestational age, Microvesicular hepatic steatosi...	OMIM:220111
Chanarin-Dorfman Syndrome	Hepatomegaly, Hepatic steatosis, Ataxia	OMIM:275630
Chronic Thromboembolic Pulmonary Hypertension	Cardiac shunt, Elevated circulating C-reactive protein concentration, Edema, Pulmonary embolism, ...	ORPHA:70591
Oromandibular Dystonia	Respiratory distress, Weight loss, Bruxism, Dysphagia	ORPHA:93958
Microphthalmia With Linear Skin Defects Syndrome	Respiratory distress, Abnormality of retinal pigmentation, Tricuspid regurgitation, Retinal dystr...	ORPHA:2556
Odontochondrodysplasia	Respiratory distress, Dentinogenesis imperfecta	ORPHA:166272
Spondyloepiphyseal Dysplasia Congenita	Respiratory distress, Retinal detachment, Waddling gait, Cleft palate, Restrictive ventilatory de...	OMIM:183900
Joubert Syndrome 16	Coloboma, Retinal dystrophy	OMIM:614465
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Respiratory distress, Anorexia, Oral-pharyngeal dysphagia, Intestinal perforation, Xerostomia, Ga...	ORPHA:95455
Episodic Ataxia Type 1	Respiratory distress, Tip-toe gait, Choreoathetosis	ORPHA:37612
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Omphalocele, Respiratory failure, Pulmonary hypoplasia, Respiratory distress	OMIM:617895
Polyendocrine-Polyneuropathy Syndrome	Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Ataxia, Decreased cir...	ORPHA:453533
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Hypoventilation, Ataxia, Fail...	OMIM:203700
Cardiac Valvular Dysplasia 2	Aortic regurgitation, Increased left ventricular end-diastolic volume, Tricuspid regurgitation, L...	OMIM:620067
Tropical Pancreatitis	Pancreatic adenocarcinoma, Jaundice, Chronic calcifying pancreatitis, Abnormal pancreatic duct mo...	ORPHA:103918
Scimitar Syndrome	Respiratory distress, Recurrent respiratory infections, Left-to-right shunt, Heart block, Congest...	ORPHA:185
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Recurrent respiratory infections, Failure to thrive, Cyanosis, Left-to-right shunt, Congestive he...	ORPHA:99050
Odontochondrodysplasia 1	Respiratory distress, Recurrent respiratory infections, Pulmonary hypoplasia, Dentinogenesis impe...	OMIM:184260
Pearson Marrow-Pancreas Syndrome	Elevated hepatic transaminase, Hepatomegaly, Villous atrophy, Pancreatic fibrosis, Malabsorption,...	OMIM:557000
Congenital Disorder Of Deglycosylation 1	Elevated hepatic transaminase, Hepatomegaly, Respiratory distress, Recurrent respiratory infectio...	OMIM:615273
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Respiratory distress, Cyclopia, Microglossia, Polyhydramnios	ORPHA:990
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Elevated circulating creatine kinase concentration, Respiratory insufficiency due to muscle weakn...	OMIM:615249
Adnp Syndrome	Respiratory distress, Inguinal hernia, Oral-pharyngeal dysphagia, Aggressive behavior, Recurrent ...	ORPHA:404448
Wiedemann-Rautenstrauch Syndrome	Optic disc hypoplasia, Decreased response to growth hormone stimulation test, Hepatic steatosis, ...	ORPHA:3455
Prader-Willi Syndrome Due To Translocation	Respiratory distress, Recurrent respiratory infections, Hypogonadotropic hypogonadism, Decreased ...	ORPHA:177907
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Respiratory distress, Neonatal respiratory distress, Cleft palate, Anteriorly placed anus, Cardio...	OMIM:217980
Primary Hyperoxaluria	Elevated hepatic transaminase, Optic disc pallor, Hyperoxaluria, Failure to thrive, Choroidal neo...	ORPHA:416
Hereditary Bullous Dystrophy, Macular Type	Acrocyanosis, Pneumonia, Heart murmur	ORPHA:1867
Acrocephalopolydactylous Dysplasia	Hypoplastic colon, Hepatomegaly, Pancreatic fibrosis, Hypoplasia of the small intestine, Hepatic ...	OMIM:200995
Waardenburg Syndrome Type 3	Tracheomalacia, Atelectasis, Acrocyanosis, Camptodactyly of finger	ORPHA:896
Tropical Endomyocardial Fibrosis	Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Pedal edema, Left bund...	ORPHA:75565
Goodpasture Syndrome	Cyanosis, Glomerulonephritis, Crackles, Nodular pattern on pulmonary HRCT, Cough, Increased DLCO,...	OMIM:233450
Peripheral Motor Neuropathy-Dysautonomia Syndrome	Achalasia, Acrocyanosis	ORPHA:2400
Woodhouse-Sakati Syndrome	Streak ovary, Decreased response to growth hormone stimulation test, Hyperlipidemia, Insulin-resi...	ORPHA:3464
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, High palate, Aspiration pneumonia	ORPHA:314655
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Respiratory distress, Multiple joint contractures, Repeated pneumothoraces, Atelectasis, Respirat...	ORPHA:536467
Cleft Larynx, Posterior	Aspiration, Cyanosis	OMIM:215800
Congenital Laryngeal Web	Respiratory distress, Stridor	ORPHA:2374
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Hip contracture, Hepatomegaly, Polyhydramnios, Seborrheic dermatitis, Large for gestational age, ...	OMIM:300868
Criss-Cross Heart	Cyanosis, Tricuspid stenosis, Respiratory insufficiency, Pulmonic stenosis, Mitral stenosis, Supr...	ORPHA:1461
Glycogen Storage Disease Ib	Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Splenomegaly, Inflammation of t...	OMIM:232220
Mandibuloacral Dysplasia Progeroid Syndrome	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Tricuspid regurgitation, Eleva...	OMIM:619127
Chromosome 6Q24-Q25 Deletion Syndrome	Respiratory distress, Persistent fetal circulation, Tricuspid regurgitation, High, narrow palate,...	OMIM:612863
Rubinstein-Taybi Syndrome 1	Respiratory distress, Polyhydramnios, Premature thelarche, High, narrow palate, Flexion contractu...	OMIM:180849
Truncus Arteriosus	Aortic regurgitation, Tachycardia, Cyanosis, Anomalous origin of one pulmonary artery from ascend...	ORPHA:3384
Familial Renal Glucosuria	Elevated hemoglobin A1c, Insulin resistance, Abnormal circulating insulin concentration, Dehydrat...	ORPHA:69076
Bone Marrow Failure Syndrome 3	Retinal dystrophy, Pancreatic steatosis, Cryptorchidism, Astigmatism, Retinal dysplasia, Bone mar...	OMIM:617052
Pierson Syndrome	Retinal detachment, Rieger anomaly, Cataract, Hypoplasia of the ciliary body, Remnants of the hya...	OMIM:609049
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Ataxia, Congestive heart failure, Unsteady gait, Optic atrophy, Limb ataxia, Gait ataxia, Cardiom...	OMIM:619259
Biliary, Renal, Neurologic, And Skeletal Syndrome	Anterior pituitary hypoplasia, Edema, Polyhydramnios, Conjugated hyperbilirubinemia, Coloboma, He...	OMIM:619534
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Respiratory distress, Stillbirth, Pulmonary hypoplasia, Polyhydramnios	OMIM:151210
Heterotaxy, Visceral, 7, Autosomal	Cyanosis, Intestinal malrotation, Pulmonary artery hypoplasia, Total anomalous pulmonary venous r...	OMIM:616749
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Orthostatic hypotension, Tachycardia, Recurrent infections due to aspiration, Elevated circulatin...	OMIM:223900
Beare-Stevenson Cutis Gyrata Syndrome	Respiratory distress, Optic atrophy, Narrow palate, Anteriorly placed anus, Hypertension, High pa...	OMIM:123790
Diamond-Blackfan Anemia 10	Respiratory distress, Macrocytic anemia, Congenital diaphragmatic hernia, Morgagni diaphragmatic ...	OMIM:613309
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Retinal detachment, Cataract, Corneal opacity, Retinal atrophy, Optic nerve hypoplasia, Cryptorch...	OMIM:236670
Combined Oxidative Phosphorylation Deficiency 27	Microvesicular hepatic steatosis, Failure to thrive, Hyperammonemia	OMIM:616672
Structural Heart Defects And Renal Anomalies Syndrome	Cyanosis, Partial anomalous pulmonary venous return, Elevated circulating creatinine concentratio...	OMIM:617478
Paroxysmal Nocturnal Hemoglobinuria	Myocardial infarction, Pulmonary embolism, Odynophagia, Leukopenia, Erythroid hyperplasia, Lethar...	ORPHA:447
Inhalational Anthrax	Respiratory distress, Dyspnea, Internal hemorrhage, Hypotension	ORPHA:247257
Atelosteogenesis Type I	Polyhydramnios, Malrotation of colon, Cleft palate, Retinal dysplasia, Abnormal pancreatic duct m...	ORPHA:1190
Osteogenesis Imperfecta, Type X	Respiratory distress, Inguinal hernia, Pyloric stenosis, Recurrent pneumonia, Dentinogenesis impe...	OMIM:613848
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Microcornea, Iris transillumination defect, Cataract, Coloboma	OMIM:617306
Aromatase Deficiency	Eunuchoid habitus, Hypergonadotropic hypogonadism, Insulin resistance, Hyperlipidemia, Obesity, T...	ORPHA:91
Arboleda-Tham Syndrome	Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Intestinal...	OMIM:616268
Igg4-Related Thyroid Disease	Pancreatic fibrosis, Retroperitoneal fibrosis, Abnormal pituitary gland morphology, Sclerosing ch...	ORPHA:64744
Pachyonychia Congenita	Oral leukoplakia, Failure to thrive, Angular cheilitis, Respiratory distress	ORPHA:2309
Pfeiffer Syndrome Type 2	Respiratory distress, Intestinal malrotation, Cleft palate, High palate, Tracheomalacia, Anal atr...	ORPHA:93259
Feingold Syndrome	Abnormality of the spleen, Annular pancreas, Esophageal atresia, Duodenal atresia	ORPHA:1305
8Q24.3 Microdeletion Syndrome	Gastrointestinal hemorrhage, Respiratory distress, Inguinal hernia, Ectopic posterior pituitary, ...	ORPHA:508488
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Corneal opacity, R...	ORPHA:85167
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Respiratory distress, Broad-based gait, High palate, Ataxia	ORPHA:438216
Classical Ehlers-Danlos Syndrome	Incisional hernia, Osteoarthritis, Rectal prolapse, Gastroesophageal reflux, Ecchymosis, Acrocyan...	ORPHA:287
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Respiratory distress, Recurrent respiratory infections, Abnormality of thyroid physiology, Cleft ...	OMIM:300968
Congenitally Corrected Transposition Of The Great Arteries	Wolff-Parkinson-White syndrome, First degree atrioventricular block, Heart block, Ventricular tac...	ORPHA:216694
Schinzel-Giedion Syndrome	Respiratory distress, Inguinal hernia, Myeloid leukemia, Aganglionic megacolon, Streak ovary, Fai...	ORPHA:798
Cardiac Valvular Dysplasia 1	Inguinal hernia, Cyanosis, Tricuspid regurgitation, Tricuspid stenosis, Edema, Valvular pulmonary...	OMIM:212093
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Respiratory distress, Pulmonary arterial hypertension, Congenital hypothyroidism	ORPHA:2519
Telangiectasia, Hereditary Hemorrhagic, Type 4	Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Transient ischemic attac...	OMIM:610655
Pfeiffer Syndrome Type 3	Respiratory distress, Intestinal malrotation, Cleft palate, High palate, Tracheomalacia, Anal atr...	ORPHA:93260
Achondroplasia	Respiratory distress, Polyhydramnios, Upper airway obstruction, Pulmonary hypoplasia, Recurrent o...	OMIM:100800
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Polycystic liver disease, Pancreatic fibrosis, Pancreatic cysts, Jaundice, Bile duct proliferatio...	OMIM:208500
Bohring-Opitz Syndrome	Recurrent respiratory infections, Retinal atrophy, Apnea, Inability to walk, Optic atrophy, Bilat...	ORPHA:97297
Jacobsen Syndrome	Cryptorchidism, Pyloric stenosis, Optic atrophy, Microcornea, Macular hypoplasia, Chorioretinal c...	OMIM:147791
Double Outlet Left Ventricle	Cyanosis, Pulmonary artery stenosis, Tachypnea, Abnormal right ventricular function, Failure to t...	ORPHA:3427
Mandibulofacial Dysostosis, Guion-Almeida Type	Respiratory distress, Esophageal atresia, Cleft palate	OMIM:610536
Unilateral Polymicrogyria	Cyanosis, Apnea, Epistaxis, Pulmonary arteriovenous malformation, Pseudobulbar paralysis	ORPHA:268943
Solitary Median Maxillary Central Incisor	Coloboma, Cyclopia, Anterior hypopituitarism, Decreased response to growth hormone stimulation test	OMIM:147250
Congenital Total Pulmonary Venous Return Anomaly	Respiratory distress, Hepatomegaly, Respiratory failure requiring assisted ventilation, Recurrent...	ORPHA:99125
Stüve-Wiedemann Syndrome	Respiratory distress, Apnea, Camptodactyly of finger, Asthma, Flexion contracture, Elbow flexion ...	ORPHA:3206
Shwachman-Diamond Syndrome 2	Hepatomegaly, Steatorrhea, High palate, Hyperechogenic pancreas, Exocrine pancreatic insufficiency	OMIM:617941
Auriculocondylar Syndrome	Respiratory distress, Hamartoma of tongue, Cleft palate, Glossoptosis, Microglossia, Bifid uvula	ORPHA:137888
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Coloboma, Gastroesophageal reflux, Otitis media, Compulsive behaviors, Abnormal repetitive manner...	ORPHA:353281
Meier-Gorlin Syndrome 1	Respiratory distress, Failure to thrive, Small for gestational age, Flexion contracture, Cleft pa...	OMIM:224690
Homozygous Familial Hypercholesterolemia	Angina pectoris, Optic neuropathy, Myocardial infarction, Sudden cardiac death, Dyspnea, Hyperlip...	ORPHA:391665
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Pancreatic fibrosis, Retinal dystrophy, Hamartoma of tongue, Intestinal malrotation, Hydrops feta...	OMIM:263520
Intellectual Developmental Disorder, Autosomal Dominant 68	High palate, Joint contracture of the 5th finger, Attention deficit hyperactivity disorder, Gastr...	OMIM:619934
Singleton-Merten Syndrome 1	Waddling gait, Recurrent respiratory infections, Congestive heart failure, Aortic valve stenosis,...	OMIM:182250
Rodrigues Blindness	Ectodermal dysplasia, Nasal flaring	OMIM:268320
Campomelic Dysplasia	Respiratory distress, Neonatal respiratory distress, Apnea, Polyhydramnios, Contracture of the di...	OMIM:114290
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Pancreatic fibrosis, Polyhydramnios	OMIM:615503
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Aggressive behavior, Asthma, Gastrointestinal dysmotility, Nasal flaring, Obesity, Self-injurious...	ORPHA:466943
Hypermobile Ehlers-Danlos Syndrome	Inguinal hernia, Apnea, Malabsorption, Genital hernia, Cystocele, Osteoarthritis, Gastrointestina...	ORPHA:285
Proximal Renal Tubular Acidosis	Malabsorption, Enamel hypomineralization, Bicarbonaturia, Hypovolemia, Dehydration, Coloboma, Hyp...	ORPHA:47159
Microphthalmia, Syndromic 3	Optic nerve aplasia, Cataract, Optic nerve hypoplasia, Sclerocornea, Anterior pituitary hypoplasi...	OMIM:206900
Ear-Patella-Short Stature Syndrome	Respiratory distress, Camptodactyly of finger, High, narrow palate, Dyspnea, Submucous cleft hard...	ORPHA:2554
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Cataract, Sclerocornea, Microcornea, Coloboma, Ectopia pupillae	OMIM:615877
Beckwith-Wiedemann Syndrome	Hepatomegaly, Cryptorchidism, Pancreatic hyperplasia, Macroglossia, Hepatoblastoma	OMIM:130650
Thauvin-Robinet-Faivre Syndrome	Inguinal hernia, Transient neutropenia, Large for gestational age, Pedal edema, Macroglossia, Col...	OMIM:617107
Yellow Fever	Acute pancreatitis, Elevated circulating aspartate aminotransferase concentration, Pancreatic hyp...	ORPHA:99829
Charge Syndrome	Decreased response to growth hormone stimulation test, Polyhydramnios, Gonadotropin deficiency, P...	OMIM:214800
Osteoglophonic Dysplasia	Respiratory distress, Inguinal hernia, Camptodactyly of finger, High palate, Failure to thrive	OMIM:166250
Doors Syndrome	Respiratory distress, Adrenal hyperplasia, Polyhydramnios, Optic atrophy, Narrow palate, Cleft pa...	ORPHA:79500
Feingold Syndrome 1	Accessory spleen, Jejunal atresia, Polyhydramnios, Asplenia, Esophageal atresia, Tracheoesophagea...	OMIM:164280
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Respiratory distress, Eczema, Rhinitis, Hypohidrotic ectodermal dysplasia, Periorbital wrinkles	OMIM:305100
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Respiratory distress, Hepatomegaly, Polyhydramnios, Splenomegaly, Aplasia of the epiglottis	OMIM:617088
Cleidocranial Dysplasia 1	Respiratory distress, Neonatal respiratory distress, High, narrow palate, Cleft palate, Narrow pa...	OMIM:119600
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Cataract, Retinal atrophy, Optic atrophy, Buphthalmos, Coloboma, Hypoplasia of the retina, Retina...	OMIM:253280
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Respiratory distress, Cyst of the ductus choledochus, Abnormal circulating thyroid hormone concen...	ORPHA:480880
Beckwith-Wiedemann Syndrome	Hepatomegaly, Polyhydramnios, Splenomegaly, Cryptorchidism, Abnormal pancreas morphology, Pseudoh...	ORPHA:116
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Erythema, ...	OMIM:614748
Coffin-Lowry Syndrome	Inguinal hernia, Cutis marmorata, Rectal prolapse, Narrow palate, Mitral regurgitation, High pala...	OMIM:303600
Ulbright-Hodes Syndrome	Respiratory distress, Maternal diabetes, Pneumothorax, Respiratory failure, High palate, Pulmonar...	ORPHA:3404
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Respiratory distress, Waddling gait, Multiple joint contractures, Recurrent pneumonia, Acute myel...	ORPHA:99646
Roberts-Sc Phocomelia Syndrome	Accessory spleen, Cataract, Corneal opacity, Polyhydramnios, Cryptorchidism, Biliary tract abnorm...	OMIM:268300
Isolated Arrhinia	Respiratory distress	ORPHA:1134

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 Prox1

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 Prox1.

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

Title	Journal	IMPC Allele	PubMed ID
Nonvenous origin of dermal lymphatic vasculature.	Circulation research (March 2015)	Prox1^{tm1c(EUCOMM)Wtsi} Prox1^{tm1a(EUCOMM)Wtsi} Prox1^{tm1d(EUCOMM)Wtsi} Prox1^{tm1b(EUCOMM)Wtsi}	25737499

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
Prox1^{tm1b(EUCOMM)Wtsi}	Reporter-tagged deletion allele (with selection cassette)	Mice
Prox1^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Prox1^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Prox1^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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