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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 (844 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, Edema of the dorsum of hands, Angioedema	OMIM:619363
Pleural Mesothelioma	Dyspnea, Respiratory distress, Abnormal pleura morphology, Abnormal cardiovascular system physiol...	ORPHA:50251
Staphylococcal Necrotizing Pneumonia	Pneumonia, Hypotension, Respiratory distress, Shock, Leukopenia, Leukocytosis, Pleural effusion, ...	ORPHA:36238
Kaposi Sarcoma, Susceptibility To	Edema	OMIM:148000
Hyperinsulinism Due To Hnf1A Deficiency	Hyperinsulinemia, Polyphagia, Hepatomegaly, Tachycardia, Neonatal hypoglycemia, Excessive insulin...	ORPHA:324575
Plin1-Related Familial Partial Lipodystrophy	Lipoatrophy, Hepatic fibrosis, Hyperinsulinemia, Hypertriglyceridemia, Hepatic steatosis, Reduced...	ORPHA:280356
Lymphatic Malformation 6	Facial edema, Generalized edema, Cellulitis, Gastroesophageal reflux, Chylothorax, Intestinal lym...	OMIM:616843
Congenital Pulmonary Lymphangiectasia	Gastroesophageal reflux, Congestive heart failure, Respiratory distress, Ascites, Tricuspid regur...	ORPHA:2414
Obesity Due To Melanocortin 4 Receptor Deficiency	Hyperinsulinemia, Obesity, Type II diabetes mellitus, Polyphagia, Childhood-onset truncal obesity...	ORPHA:71529
Lymphatic Malformation 11	Pedal edema, Lymphedema	OMIM:619401
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypertrophic cardiomyopathy, Exce...	ORPHA:276580
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypertrophic cardiomyopathy, Exce...	ORPHA:276575
Perching Syndrome	Respiratory distress, Cyanosis, Rod-cone dystrophy, Joint contracture, Camptodactyly, High palate...	OMIM:617055
Lymphatic Malformation 7	Facial edema, Chylothorax, Lymphedema, Respiratory distress, Ascites, Increased nuchal translucen...	OMIM:617300
Immunodeficiency 91 And Hyperinflammation	Neutrophilia, Recurrent pneumonia, Elevated circulating hepatic transaminase concentration, Hemop...	OMIM:619644
Familial Partial Lipodystrophy, Köbberling Type	Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Hypertension, Pancreatitis, Hepatomegaly...	ORPHA:79084
Sarcoidosis	Abnormal lymph node morphology, Abnormal pleura morphology, Arrhythmia, Weight loss, Erythema nod...	ORPHA:797
Obesity Due To Prohormone Convertase I Deficiency	Failure to thrive, Decreased response to growth hormone stimulation test, Cholestasis, Hyperinsul...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Failure to thrive, Decreased response to growth hormone stimulation test, Cholestasis, Hyperinsul...	ORPHA:71526
Lipodystrophy, Familial Partial, Type 3	Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II...	OMIM:604367
Tularemia	Pneumonia, Brain abscess, Cutaneous abscess, Respiratory distress, Cervical lymphadenopathy, Abno...	ORPHA:3392
Severe Neurodegenerative Syndrome With Lipodystrophy	Insulin resistance, Ataxia, Generalized lipodystrophy, Hyperinsulinemia, Gait ataxia, Hepatic ste...	ORPHA:363400
Lymphatic Malformation 9	Tortuous lymphatic vessels, Predominantly lower limb lymphedema	OMIM:619319
Hyperinsulinism Due To Ucp2 Deficiency	Diffuse pancreatic islet hyperplasia, Recurrent hypoglycemia, Hypertrophic cardiomyopathy, Excess...	ORPHA:276556
Lymphangioleiomyomatosis	Optic atrophy, Gastrointestinal hemorrhage, Chylothorax, Atelectasis, Lymphedema, Ascites, Emphys...	ORPHA:538
Sarcoidosis, Susceptibility To, 2	Mediastinal lymphadenopathy, Emphysema, Hypoxemia, Pleural effusion, Splenomegaly, Hepatomegaly, ...	OMIM:612387
Poems Syndrome	Increased circulating prolactin concentration, Weight loss, Hepatomegaly, Polycythemia, Ascites, ...	ORPHA:2905
Acute Interstitial Pneumonia	Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Elevated ...	ORPHA:79126
Lymphangiectasia, Pulmonary, Congenital	Facial edema, Chylothorax, Edema, Lymphedema, Ascites, Chylous ascites, Pleural effusion, Nonimmu...	OMIM:265300
Hemochromatosis, Type 1	Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration...	OMIM:235200
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Abnormal circulating insulin concentration, Hypoketotic hypoglycemia, Large for gestational age, ...	ORPHA:293964
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Optic atrophy, Failure to thrive, Cardiomyopathy, Respiratory distress, Anorexia, Splenomegaly, H...	ORPHA:79312
Short Chain Acyl-Coa Dehydrogenase Deficiency	Optic atrophy, Elevated circulating acylcarnitine concentration, Failure to thrive, Cardiomyopath...	ORPHA:26792
Congenital Enterovirus Infection	Cholestasis, Neutropenia, Pleural effusion, Anemia, Hydrops fetalis, Hypoalbuminemia, Hepatic fai...	ORPHA:292
Lipodystrophy, Congenital Generalized, Type 3	Insulin resistance, Generalized lipodystrophy, Hepatosplenomegaly, Hypocalcemia, Splenomegaly, He...	OMIM:612526
Avian Influenza	Pneumonia, Hypoalbuminemia, Myelitis, Elevated circulating hepatic transaminase concentration, He...	ORPHA:454836
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Cellulitis, Optic atrophy, Chylothorax, Erysipelas, Abnormal optic nerve morphology, Lymphedema, ...	ORPHA:2526
Combined Oxidative Phosphorylation Deficiency 10	Optic atrophy, Failure to thrive, Hypoglycemia, Ascites, Hypertrophic cardiomyopathy, Oligohydram...	OMIM:614702
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Hypoketotic hypoglycemia, Hyperinsulinemia, Reactive hypoglycemia, Pancreatic islet-cell hyperpla...	ORPHA:276608
Aspergillosis	Pneumonia, Keratitis, Hepatitis, Osteomyelitis, Pleural effusion, Infectious encephalitis, Eosino...	ORPHA:1163
Idiopathic Chronic Eosinophilic Pneumonia	Atopic dermatitis, Atelectasis, Generalized abnormality of skin, Hypereosinophilia, Leukocytosis,...	ORPHA:2902
Mitchell-Riley Syndrome	Annular pancreas, Pancreatic hypoplasia, Anteriorly placed anus, Meckel diverticulum, Ascites, Ch...	OMIM:615710
Congenital Glucokinase-Related Hyperinsulinism	Fasting hyperinsulinemia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Abnormal circulating ...	ORPHA:79299
Hypocomplementemic Urticarial Vasculitis	Angioedema, Ascites, Emphysema, Episcleritis, Splenomegaly, Skin rash, Pleural effusion, Inflamma...	ORPHA:36412
Hennekam Syndrome	Chylothorax, Erysipelas, Lymphedema, Ascites, Lymphopenia, Camptodactyly of finger, Splenomegaly,...	ORPHA:2136
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Joint contracture of the hand, Chylothorax, Subdural hemorrhage, Respiratory distress, Joint cont...	OMIM:620278
Follicular Lymphoma	Lymphedema, Pleural effusion, Splenomegaly, Weight loss, Lymphadenopathy, Abnormal peritoneum mor...	ORPHA:545
Hyperinsulinemic Hypoglycemia, Familial, 5	Hypoglycemic seizures, Elevated circulating insulin:C-peptide ratio, Hyperinsulinemic hypoglycemi...	OMIM:609968
Morbid Obesity And Spermatogenic Failure	Insulin resistance, Decreased HDL cholesterol concentration, Congestive heart failure, Increased ...	OMIM:615703
Congenital Generalized Lipodystrophy	Insulin resistance, Precocious puberty in females, Failure to thrive, Congestive heart failure, H...	ORPHA:528
Hyperinsulinemic Hypoglycemia, Familial, 1	Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet...	OMIM:256450
Hyperinsulinemic Hypoglycemia, Familial, 7	Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,...	OMIM:610021
Congenital Heart Block	Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block...	ORPHA:60041
Martinez-Frias Syndrome	Annular pancreas, Pancreatic hypoplasia, Intestinal malrotation, Jejunal atresia, Tracheoesophage...	OMIM:601346
Primary Intestinal Lymphangiectasia	Hypoalbuminemia, Increased stool alpha1-antitrypsin concentration, Generalized edema, Peritoneal ...	ORPHA:90362
Hyperinsulinemic Hypoglycemia, Familial, 2	Nesidioblastosis, Hypoglycemia, Large for gestational age, Pancreatic islet-cell hyperplasia, Hyp...	OMIM:601820
Bardet-Biedl Syndrome 16	Bronchiolitis, Respiratory distress, Recurrent otitis media, Hypogonadism, Obesity, Retinal degen...	OMIM:615993
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Gastroesophageal reflux, Abnormal pulmonary interstitial morphology, Atelectasis, Failure to thri...	OMIM:620233
Amoebiasis Due To Entamoeba Histolytica	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Congestive heart failur...	ORPHA:67
Combined Oxidative Phosphorylation Deficiency 52	Hypoglycemia, Hypertrophic cardiomyopathy, Elevated circulating aspartate aminotransferase concen...	OMIM:619386
Lymphoproliferative Syndrome 1	Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Leukopenia, Decreas...	OMIM:613011
Gaucher Disease Type 2	Abnormal pattern of respiration, Respiratory distress, Splenomegaly, Hepatomegaly, Cardiac arrest...	ORPHA:77260
Carnitine Deficiency, Systemic Primary	Decreased circulating carnitine concentration, Failure to thrive, Cardiomyopathy, Recurrent hypog...	OMIM:212140
Focal Segmental Glomerulosclerosis 1	Hypoalbuminemia, Ascites, Hyperlipidemia, Pleural effusion, Anemia, Hypertension, Edema	OMIM:603278
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome	Aplasia/Hypoplasia of the pancreas, Optic nerve hypoplasia	ORPHA:65288
Lipodystrophy, Partial, Acquired, Susceptibility To	Loss of subcutaneous adipose tissue from upper limbs, Abnormal circulating lipid concentration, L...	OMIM:608709
Hyperinsulinism Due To Insr Deficiency	Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Abnormal circ...	ORPHA:263458
Waldenström Macroglobulinemia	Normocytic anemia, Periorbital edema, Gastrointestinal hemorrhage, Vasculitis, Epistaxis, Congest...	ORPHA:33226
Systemic-Onset Juvenile Idiopathic Arthritis	Pleural effusion, Skin rash, Splenomegaly, Joint swelling, Hepatomegaly, Elevated circulating C-r...	ORPHA:85414
Lipodystrophy, Congenital Generalized, Type 4	Insulin resistance, Recurrent pneumonia, Elevated circulating hepatic transaminase concentration,...	OMIM:613327
Hydrops Fetalis	Generalized edema, Lymphedema, Ascites, Pleural effusion, Nonimmune hydrops fetalis, Abnormality ...	ORPHA:1041
Pulmonary Capillary Hemangiomatosis	Diffuse alveolar hemorrhage, Mediastinal lymphadenopathy, Right ventricular failure, Interlobular...	ORPHA:199241
Secondary Intestinal Lymphangiectasia	Intestinal bleeding, Lymphopenia, Intestinal obstruction, Cirrhosis, Celiac disease, Gastrointest...	ORPHA:90363
Fryns Syndrome	Joint contracture of the hand, Meckel diverticulum, Chylothorax, Polysplenia, Intestinal malrotat...	OMIM:229850
Lipodystrophy, Familial Partial, Type 2	Insulin-resistant diabetes mellitus, Increased adipose tissue around the neck, Hyperglycemia, Hyp...	OMIM:151660
Obesity And Hypopigmentation	Polyphagia, Hyperinsulinemia, Obesity, Hepatic steatosis	OMIM:620195
Q Fever	Hepatosplenomegaly, Weight loss, Anorexia, Hepatomegaly, Purpura, Endocarditis, Vasculitis, Granu...	ORPHA:781
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Acute pancreatitis, Recurrent pneumonia, Recurrent tonsillitis, Granuloma, Lymphadenitis, Eczemat...	OMIM:618935
Lipodystrophy, Familial Partial, Type 7	Facial wrinkling, Cutis marmorata, Reduced subcutaneous adipose tissue, Loss of subcutaneous adip...	OMIM:606721
Zygomycosis	Cellulitis, Ileitis, Pustule, Retinal detachment, Acute infectious pneumonia, Neutropenia, Perior...	ORPHA:73263
Idiopathic Hypereosinophilic Syndrome	Inflammatory abnormality of the skin, Angioedema, Hepatosplenomegaly, Chronic hepatitis, Cutis ma...	ORPHA:3260
Mpi-Cdg	Hypoalbuminemia, Hepatic fibrosis, Gastrointestinal hemorrhage, Protein-losing enteropathy, Failu...	ORPHA:79319
Insulinoma	Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden...	ORPHA:97279
Homozygous 11P15-P14 Deletion Syndrome	Abnormal intestine morphology, Hyperinsulinemia, Failure to thrive, Hypoglycemia	OMIM:606528
Acquired Partial Lipodystrophy	Insulin resistance, Progeroid facial appearance, Hepatic steatosis, Lymphocytosis, Lipoatrophy	ORPHA:79087
Meige Disease	Facial edema, Predominantly lower limb lymphedema, Cellulitis, Atypical scarring of skin, Absence...	ORPHA:90186
Chédiak-Higashi Syndrome	Periodontitis, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Neutropenia, Ataxia, Jaundice,...	ORPHA:167
Nocardiosis	Cellulitis, Lymphadenitis, Scleritis, Weight loss, Anorexia, Endocarditis, Cutaneous abscess, Ost...	ORPHA:31204
Fusariosis	Cellulitis, Abnormality of the spleen, Lymphopenia, Neutropenia, Granuloma, Osteomyelitis, Abnorm...	ORPHA:228119
Brucellosis	Arteritis, Sacroiliac arthritis, Hypersplenism, Knee osteoarthritis, Weight loss, Glomerulonephri...	ORPHA:1304
Lymphedema-Distichiasis Syndrome	Cellulitis, Predominantly lower limb lymphedema, Chylothorax, Lymphedema, Nonimmune hydrops fetal...	OMIM:153400
Pulmonary Non-Tuberculous Mycobacterial Infection	Respiratory distress, Pleural effusion, Pneumothorax, Weight loss, Lymphadenopathy, Dyspnea, Peri...	ORPHA:411703
Primary Effusion Lymphoma	Dyspnea, Pericardial effusion, Pleural effusion, Abnormal peritoneum morphology	ORPHA:48686
Insulin Autoimmune Syndrome	Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Weight loss, Nonk...	ORPHA:411593
Edema, Familial Idiopathic, Prepubertal	Edema	OMIM:129840
Cholestasis, Progressive Familial Intrahepatic, 5	Hepatic failure, Failure to thrive, Hypoglycemia, Ascites, Elevated circulating aspartate aminotr...	OMIM:617049
Isolated Congenital Hypoglossia/Aglossia	Microglossia, Aspiration pneumonia, Respiratory distress, Weight loss, Dyspnea, Cleft palate	ORPHA:141152
Obesity Due To Congenital Leptin Deficiency	Decreased serum estradiol, Recurrent upper respiratory tract infections, Insulin-resistant diabet...	ORPHA:66628
Capillary Malformation-Arteriovenous Malformation	Epistaxis, Chylothorax, Vascular skin abnormality, Lymphedema, Congestive heart failure, Cerebral...	ORPHA:137667
Pancreatic Agenesis 1	Exocrine pancreatic insufficiency, Oligohydramnios, Pancreatic hypoplasia, Pancreatic aplasia	OMIM:260370
Hyperinsulinemic Hypoglycemia, Familial, 3	Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia	OMIM:602485
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee	Hepatic steatosis, Gait disturbance, Mildly elevated creatine kinase, Elevated circulating hepati...	OMIM:618400
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Insulin-resistant diabetes mellitus, Hepatic steatosis, Retinal detachment, Hypertriglyceridemia,...	ORPHA:436182
Congenital Disorder Of Glycosylation, Type Ib	Hypoalbuminemia, Hepatic fibrosis, Hepatic failure, Protein-losing enteropathy, Failure to thrive...	OMIM:602579
Myopathy, Epilepsy, And Progressive Cerebral Atrophy	Polyhydramnios, Congenital contracture, Chylothorax, Thymus hyperplasia	OMIM:619036
Hyperinsulinemic Hypoglycemia, Familial, 8	Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Hyperinsulinemia, H...	OMIM:620211
Pontocerebellar Hypoplasia, Type 13	Volvulus, Decreased liver function, Recurrent respiratory infections, Inability to walk, Failure ...	OMIM:618606
Hemochromatosis, Type 4	Cardiomyopathy, Increased circulating ferritin concentration, Glucose intolerance, Hepatic steato...	OMIM:606069
Obesity Due To Leptin Receptor Gene Deficiency	Decreased serum estradiol, Recurrent upper respiratory tract infections, Insulin-resistant diabet...	ORPHA:179494
Immunodeficiency 87 And Autoimmunity	Cholestasis, Lymphopenia, Decreased CD4:CD8 ratio, Hepatic steatosis, Elevated circulating alanin...	OMIM:619573
Pulmonary Arteriovenous Malformation	Bacterial endocarditis, Epistaxis, Brain abscess, Gastrointestinal infarctions, Pulmonary hemorrh...	ORPHA:2038
Lipodystrophy, Familial Partial, Type 6	Insulin resistance, Abnormal circulating lipid concentration, Hyperlipidemia, Hepatic steatosis, ...	OMIM:615980
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Failure to thrive, Hypoglycemia, Congestive heart failure, Elevated circulating aspartate aminotr...	OMIM:619048
Lymphatic Malformation 14	Lymphedema	OMIM:620602
Lymphatic Malformation 2	Lymphedema	OMIM:611944
Tafro Syndrome	Anasarca, Ascites, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Pleural effusion, Hepatomegaly...	ORPHA:457077
Lipodystrophy, Familial Partial, Type 4	Insulin resistance, Insulin-resistant diabetes mellitus, Hepatic steatosis, Lipodystrophy, Hypert...	OMIM:613877
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Hypoalbuminemia, Hepatic failure, Elevated circulating hepatic transaminase concentration, Dilate...	ORPHA:367
Lipodystrophy, Familial Partial, Type 5	Decreased adiponectin level, Hepatic steatosis, Lipodystrophy, Hypertriglyceridemia, Hepatomegaly...	OMIM:615238
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated circulating hepatic transaminase concentration, Glycosuria, Hyperinsulinemia, Hypophosph...	ORPHA:263455
Pediatric Systemic Lupus Erythematosus	Discoid lupus rash, Nephritis, Microangiopathic hemolytic anemia, Ascites, Lymphopenia, Leukopeni...	ORPHA:93552
Idiopathic Neonatal Atrial Flutter	Abnormal atrioventricular conduction, Abnormal EKG, Respiratory distress, Reduced left ventricula...	ORPHA:45452
Lipe-Related Familial Partial Lipodystrophy	Insulin resistance, Decreased adiponectin level, Insulin-resistant diabetes mellitus, Increased a...	ORPHA:435660
Car T Cell Therapy-Associated Cytokine Release Syndrome	Hypotension, Elevated circulating hepatic transaminase concentration, Elevated circulating creati...	ORPHA:542323
Hypoglycemia, Leucine-Induced	Hyperinsulinemic hypoglycemia, Hypoglycemia, Ataxia	OMIM:240800
Cholesteryl Ester Storage Disease	Hepatic bridging fibrosis, Adrenal calcification, Acute hepatic failure, Hepatosplenomegaly, Hype...	OMIM:278000
Kikuchi-Fujimoto Disease	Erythema, Abnormal lymph node morphology, Pustule, Weight loss, Neutropenia, Ataxia, Anorexia, He...	ORPHA:50918
Diarrhea 10, Protein-Losing Enteropathy Type	Hypoalbuminemia, Protein-losing enteropathy, Hematochezia, Recurrent upper respiratory tract infe...	OMIM:618183
Hyperinsulinemic Hypoglycemia, Familial, 4	Hypoglycemic seizures, Hyperinsulinemic hypoglycemia	OMIM:609975
Wilson Disease	Elevated circulating hepatic transaminase concentration, Hepatitis, Bruising susceptibility, Fail...	ORPHA:905
Macular Dystrophy, Dominant Cystoid	Edema, Cystoid macular edema	OMIM:153880
Congenital Disorder Of Glycosylation, Type Ie	High, narrow palate, Optic atrophy, Ankle flexion contracture, Elevated circulating hepatic trans...	OMIM:608799
Alpha-Thalassemia	Generalized edema, Cholelithiasis, Extramedullary hematopoiesis, Congestive heart failure, Microc...	ORPHA:846
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Increased circulating free fatty acid level, Decreased circulating carnitine concentration, Acute...	ORPHA:71212
Zollinger-Ellison Syndrome	Erythema, Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urina...	ORPHA:913
Obesity Due To Sim1 Deficiency	Hypotension, Postural hypotension with compensatory tachycardia, Hyperinsulinemia, Glucose intole...	ORPHA:369873
Stuve-Wiedemann Syndrome 2	Eczematoid dermatitis, Congestive heart failure, Respiratory distress, Neonatal death, Pulmonary ...	OMIM:619751
Radio-Renal Syndrome	High, narrow palate, Chylothorax, Respiratory distress, Pleural effusion, Dyspnea	ORPHA:3015
Primary Sclerosing Cholangitis	Cholestasis, Acute hepatic failure, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrho...	ORPHA:171
Acquired Generalized Lipodystrophy	Insulin resistance, Progeroid facial appearance, Insulin-resistant diabetes mellitus, Abnormal ci...	ORPHA:79086
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Increased circulating free fatty acid level, Inflammatory abnormality of the skin, Tachypnea, Arr...	ORPHA:26793
Hyperinsulinemic Hypoglycemia, Familial, 6	Abnormality of the pancreatic islet cells, Asymptomatic hyperammonemia, Failure to thrive, Hyperi...	OMIM:606762
Pparg-Related Familial Partial Lipodystrophy	Insulin resistance, Insulin-resistant diabetes mellitus, Congestive heart failure, Hypertrophic c...	ORPHA:79083
Porphyria Cutanea Tarda	Portal inflammation, Poor wound healing, Hepatic steatosis, Decreased circulating hepcidin concen...	ORPHA:101330
Sarcoidosis, Susceptibility To, 1	Inflammation of the large intestine, Pancytopenia, Iridocyclitis, Weight loss, Anorexia, Hepatome...	OMIM:181000
Malaria	Respiratory distress, Gait imbalance, Hyperbilirubinemia, Retinopathy, Elevated circulating C-rea...	ORPHA:673
Combined Oxidative Phosphorylation Deficiency 34	Hepatic failure, Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Fa...	OMIM:617872
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Aggressive behavior, Hyperinsulinemia, Polyphagia, Obesity	ORPHA:329249
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1	Delayed thelarche, Dorsocervical fat pad, Delayed puberty, Hyperinsulinemic hypoglycemia, Diabete...	OMIM:616033
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatic fibrosis, Hepatitis, Pancreatic hypoplasia, Cholestasis, Portal hypertension, Splenic cys...	OMIM:610199
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Aortic valve stenosis, Chylothorax, Juvenile myelomonocytic leukemia, Failure to thrive, Lymphede...	OMIM:613563
Peroxisomal Acyl-Coa Oxidase Deficiency	Optic atrophy, Pigmentary retinopathy, Elevated circulating hepatic transaminase concentration, R...	OMIM:264470
Pneumocystosis	Interstitial pneumonitis, Pleural effusion, Multiple pulmonary cysts, Exertional dyspnea, Acute i...	ORPHA:723
Wild Type Attr Amyloidosis	Aortic valve stenosis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal EKG, Pleur...	ORPHA:330001
Glycogen Storage Disease Of Heart, Lethal Congenital	Pulmonary edema, Ventricular fibrillation, ST segment elevation, Neonatal hypoglycemia, Ascites, ...	OMIM:261740
High Altitude Pulmonary Edema	Leukocytosis, Cyanosis, Pulmonary edema, Tachypnea, Orthopnea, Anorexia, Dyspnea, Tachycardia, Hy...	ORPHA:330012
Pulmonary Edema Of Mountaineers, Susceptibility To	Pulmonary edema, Edema	OMIM:178400
Asbestos Intoxication	Right ventricular failure, Abnormal pulmonary interstitial morphology, Atelectasis, Interlobular ...	ORPHA:2302
Hypertriglyceridemia, Transient Infantile	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Failure to thrive, Hep...	OMIM:614480
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating hepatic transaminase concentration, Hypoglycemia, Decreased liver function, ...	ORPHA:42
Mahvash Disease	Palpitations, Type II diabetes mellitus, Recurrent pancreatitis, Pancreatic alpha-cell hyperplasi...	OMIM:619290
Scedosporiosis	Pneumonia, Abnormal jejunum morphology, Bronchitis, Osteomyelitis, Pleuritis, Sinusitis, Arthralg...	ORPHA:449280
Necrotizing Enterocolitis	Hypotension, Ascites, Hyperglycemia, Shock, Apnea, Leukocytosis, Abnormal glucose homeostasis, Br...	ORPHA:391673
Cidec-Related Familial Partial Lipodystrophy	Decreased adiponectin level, Insulin-resistant diabetes mellitus, Hepatic steatosis, Loss of glut...	ORPHA:435651
Mandibuloacral Dysplasia	Insulin resistance, Increased circulating free fatty acid level, Increased subcutaneous truncal a...	ORPHA:2457
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Keloids, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Abnormality of retinal pigmentatio...	ORPHA:3085
Insulin-Resistance Syndrome Type B	Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ...	ORPHA:2298
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Inflammatory abnormality of the skin, Psoriasiform dermatitis, Crusting erythematous dermatitis, ...	ORPHA:37042
Combined Oxidative Phosphorylation Deficiency 16	Hypertrophic cardiomyopathy, Elevated circulating aspartate aminotransferase concentration, Eleva...	OMIM:615395
Acute Lung Injury	Pneumonia, Diffuse alveolar hemorrhage, Respiratory distress, Shock, Tachypnea, Addictive alcohol...	ORPHA:178320
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Optic atrophy, Hepatic failure, Increased hepatic echogenicity, Hypoglycemia, Apnea, Hepatic stea...	OMIM:261680
Mody	Abnormal circulating insulin concentration, Abnormal oral glucose tolerance, Glycosuria, Insulin-...	ORPHA:552
Citrullinemia Type Ii	Abnormal eating behavior, Hepatic steatosis, Hepatomegaly, Cerebral edema, Restlessness, Hypoprot...	ORPHA:247585
Pancreatic Agenesis 2	Exocrine pancreatic insufficiency, Steatorrhea, Pancreatic hypoplasia, Pancreatic aplasia	OMIM:615935
Cryptogenic Organizing Pneumonia	Respiratory distress, Anorexia, Leukocytosis, Cyanosis, Pneumothorax, Weight loss, Elevated circu...	ORPHA:1302
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Increased adipose tissue around the neck, Premature graying of hair, Hepatic steatosis, Reduced s...	ORPHA:280365
Leptospirosis	Pulmonary hemorrhage, Macular cotton wool spot, Arrhythmia, Anorexia, Hepatomegaly, Jaundice, Ple...	ORPHA:509
Behçet Disease	Mitral regurgitation, Weight loss, Anorexia, Ataxia, Endocarditis, Aortic regurgitation, Vasculit...	ORPHA:117
Systemic Capillary Leak Syndrome	Hypotension, Leukocytosis, Pleural effusion, Pulmonary edema, Arrhythmia, Weight loss, Pancreatit...	ORPHA:188
Kaposiform Lymphangiomatosis	Epidural hemorrhage, Epistaxis, Subconjunctival hemorrhage, Bruising susceptibility, Hepatospleno...	ORPHA:464329
Akt2-Related Familial Partial Lipodystrophy	Insulin resistance, Decreased adiponectin level, Insulin-resistant diabetes mellitus, Increased i...	ORPHA:79085
Glycogen Storage Disease Ii	Sinus tachycardia, Difficulty walking, Pleural effusion, Splenomegaly, Elevated circulating creat...	OMIM:232300
Granulomatous Disease, Chronic, X-Linked	Discoid lupus rash, Cellulitis, Recurrent pneumonia, Granuloma, Lymphadenitis, Eczematoid dermati...	OMIM:306400
Sepsis In Premature Infants	Decreased body weight, Neutropenia, Hepatomegaly, Elevated circulating C-reactive protein concent...	ORPHA:90051
Body Mass Index Quantitative Trait Locus 19	Insulin resistance, Increased serum leptin, Hyperinsulinemia, Obesity, Hyperlipidemia, Polyphagia...	OMIM:617885
Multiple Endocrine Neoplasia Type 4	Erythema, Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urina...	ORPHA:276152
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Hypoalbuminemia, Protein-losing enteropathy, Joint contracture of the hand, Pericardial lymphangi...	OMIM:235510
Hyperinsulinism-Hyperammonemia Syndrome	Asymptomatic hyperammonemia, Fasting hyperinsulinemia, Reactive hypoglycemia, Attention deficit h...	ORPHA:35878
Macrocephaly-Intellectual Disability-Autism Syndrome	Thyroid carcinoma, Intestinal polyposis, Hepatic steatosis, Attention deficit hyperactivity disor...	ORPHA:210548
Congenital Myopathy 10A, Severe Variant	Gastroesophageal reflux, Failure to thrive, Camptodactyly of finger, Respiratory distress, Elevat...	OMIM:614399
Dietary Iron Overload Disease	Hepatic bridging fibrosis, Hepatic fibrosis, Abnormal thyroid morphology, Hepatitis, Increased ci...	ORPHA:139507
Niemann-Pick Disease, Type B	Abnormal macular morphology, Sea-blue histiocytosis, Decreased HDL cholesterol concentration, Inc...	OMIM:607616
Yellow Nail Syndrome	Predominantly lower limb lymphedema, Hypoplasia of lymphatic vessels, Lymphedema	OMIM:153300
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Periportal fibrosis, Decreased circulating carnitine concentration, Gastroesophageal reflux, Hepa...	OMIM:201475
Coccidioidomycosis	Abnormality of the spleen, Morbilliform rash, Abscess, Erythema nodosum, Pleural empyema, Vasculi...	ORPHA:228123
Congenital Disorder Of Glycosylation, Type Iir	Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Decreased liver ...	OMIM:301045
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Elevated circulating hepatic transaminase concentration, Failure to thrive, Respiratory distress,...	OMIM:613561
Familial Partial Lipodystrophy, Dunnigan Type	Insulin resistance, Cellulitis, Congestive heart failure, Hypertrophic cardiomyopathy, Splenomega...	ORPHA:2348
Lipodystrophy, Congenital Generalized, Type 1	Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Umbilical hernia, Hyperi...	OMIM:608594
Insulinomatosis And Diabetes Mellitus	Insulinoma, Type II diabetes mellitus, Multiple pancreatic beta-cell adenomas, Hyperinsulinemic h...	OMIM:147630
Perlman Syndrome	High, narrow palate, Abnormal pancreas morphology, Hyperinsulinemia, Inguinal hernia, Hepatomegal...	ORPHA:2849
Hsd10 Disease, Infantile Type	Optic atrophy, Hypoglycemia, Hypertrophic cardiomyopathy, Hyperammonemia, Cyanosis, Retinal degen...	ORPHA:391428
Esophageal Atresia	Esophagitis, Abnormal gastrointestinal tract morphology, Oral aversion, Episodic respiratory dist...	ORPHA:1199
Microphthalmia/Coloboma 4	Microcornea, Coloboma	OMIM:251505
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Insulin resistance, Male hypogonadism, Elevated circulating hepatic transaminase concentration, H...	OMIM:615381
Classic Glucose Transporter Type 1 Deficiency Syndrome	Abnormal erythrocyte morphology, Cyanosis, Lethargy, Central apnea, Ataxia, Choreoathetosis	ORPHA:71277
Hemorrhagic Fever-Renal Syndrome	Hyperphosphatemia, Decreased body weight, Pulmonary edema, Glomerulonephritis, Tubulointerstitial...	ORPHA:340
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Predominantly lower limb lymphedema, Palmar telangiectasia, Ascites, Cutis marmorata, Pleural eff...	ORPHA:69735
Malignant Atrophic Papulosis	Gastrointestinal hemorrhage, Arteritis, Abnormal optic nerve morphology, Intestinal fistula, Gast...	ORPHA:679
Bacterial Toxic-Shock Syndrome	Cellulitis, Abscess, Tachypnea, Glomerulonephritis, Tachycardia, Recurrent skin infections, Shock...	ORPHA:36234
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Skin rash, Hypertri...	OMIM:603552
Eosinophilic Fasciitis	Cellulitis, Abnormal eosinophil morphology, Fasciitis, Myositis, Muscular edema, Eosinophilia, We...	ORPHA:3165
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Failure to thrive, Hypoglycemia, Cardiomyopathy, Respiratory distress, Leukopenia, Hyperglycinemi...	OMIM:251000
Lipodystrophy, Congenital Generalized, Type 2	Elevated circulating hepatic transaminase concentration, Umbilical hernia, Hypertrophic cardiomyo...	OMIM:269700
Lymphatic Malformation 8	Generalized edema, Pleural effusion, Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion	OMIM:618773
Muscular Hypertonia, Lethal	Respiratory distress, Pneumonia, Umbilical hernia	OMIM:254120
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Failure to thrive, Respiratory distress, Hypertrophic cardiomyopathy, Cyanosis, Low-output conges...	ORPHA:91130
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Optic atrophy, Respiratory distress, Hyperammonemia, Hepatomegaly, Lethargy, Pancreatitis, Thromb...	ORPHA:289916
Erdheim-Chester Disease	Polydipsia, Pulmonary fibrosis, Congestive heart failure, Osteomyelitis, Xanthelasma, Pleural eff...	ORPHA:35687
Malignant Atrophic Papulosis	Constrictive pericarditis, Gastrointestinal infarctions, Gastrointestinal hemorrhage, Pleural eff...	OMIM:602248
Idiopathic Steroid-Sensitive Nephrotic Syndrome	Lymphedema	ORPHA:69061
Cryptococcosis	Pneumonia, Abnormal optic nerve morphology, Respiratory distress, Osteomyelitis, Nodular pattern ...	ORPHA:1546
Diarrhea 13	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Failure to thrive, Recu...	OMIM:620357
Congenital Disorder Of Glycosylation, Type Ia	Hepatic steatosis, Rod-cone dystrophy, Ataxia, Hepatomegaly, Villous atrophy, Dysmetria, Nonimmun...	OMIM:212065
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Recurrent hypoglycemi...	ORPHA:79644
Myopathy And Diabetes Mellitus	Type I diabetes mellitus, Tip-toe gait, Respiratory distress, Inability to walk, Achilles tendon ...	ORPHA:2596
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Hypoalbuminemia, Minimal change glomerulonephritis, Facial edema, Pulmonary embolism, Edema, Anas...	ORPHA:567546
Noonan Syndrome 8	Eczematoid dermatitis, Failure to thrive, Hypertrophic cardiomyopathy, Large for gestational age,...	OMIM:615355
Infant Acute Respiratory Distress Syndrome	Pneumonia, Hypotension, Atelectasis, Respiratory tract infection, Cyanosis, Pulmonary edema, Card...	ORPHA:70587
Body Mass Index Quantitative Trait Locus 20	Polyphagia, Hyperinsulinemia, Obesity	OMIM:618406
Pseudo-Torch Syndrome 2	Elevated circulating hepatic transaminase concentration, Ascites, Cerebral hemorrhage, Pleural ef...	OMIM:617397
Galactokinase Deficiency	Small for gestational age, Failure to thrive, Hypoglycemia, Hepatosplenomegaly, Hyperinsulinemia,...	ORPHA:79237
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Microcytic anemia, Hypo...	OMIM:619013
Triokinase And Fmn Cyclase Deficiency Syndrome	Hypoalbuminemia, Broad-based gait, Dilated cardiomyopathy, Microcytic anemia, Failure to thrive i...	OMIM:618805
Ovarian Fibrothecoma	Ascites, Pleural effusion, Peritonitis, Increased serum testosterone level, Abnormal circulating ...	ORPHA:314478
Coach Syndrome 2	Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Chori...	OMIM:619111
Immunodeficiency 95	Recurrent viral pneumonia, Respiratory distress, Lymphopenia, Recurrent viral upper respiratory t...	OMIM:619773
Aicardi-Goutieres Syndrome 9	Hepatosplenomegaly, Chilblains, Hepatic steatosis, Weight loss, Hepatomegaly, Ascites, Hypothyroi...	OMIM:619487
Alstrom Syndrome	Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Hepatic steatosis, Cone/con...	OMIM:203800
Severe X-Linked Mitochondrial Encephalomyopathy	Respiratory distress, Increased connective tissue, Increased serum pyruvate	ORPHA:238329
Mandibuloacral Dysplasia With Type B Lipodystrophy	Progeroid facial appearance, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia...	OMIM:608612
Surfactant Metabolism Dysfunction, Pulmonary, 3	Crazy paving pattern, Neonatal death, Tachypnea, Paraseptal emphysema, Reticular pattern on pulmo...	OMIM:610921
Gjc2-Related Late-Onset Primary Lymphedema	Facial edema, Predominantly lower limb lymphedema, Genital edema, Hypoplasia of lymphatic vessels...	ORPHA:568051
3-Hydroxy-3-Methylglutaric Aciduria	Recurrent hypoglycemia, Lipid accumulation in hepatocytes, Tachypnea, Weight loss, Ataxia, Anorex...	ORPHA:20
Microphthalmia/Coloboma 6	Hypoplasia of the fovea, Coloboma, Optic disc hypoplasia	OMIM:613703
Myasthenic Syndrome, Congenital, 6, Presynaptic	Respiratory distress, Dysphagia, Apneic episodes precipitated by illness, fatigue, stress, Arthro...	OMIM:254210
Infection-Related Hemolytic Uremic Syndrome	Hyperkalemia, Pleural empyema, Intestinal perforation, Gastrointestinal infarctions, Hypocalcemia...	ORPHA:544482
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Ascites, Hypertrophic cardiomyopathy, Pleural effusion, Polyhydramnios, Flexion contracture, Hydr...	OMIM:616897
Glycogen Storage Disease Vi	Elevated circulating hepatic transaminase concentration, Hypoglycemia, Failure to thrive in infan...	OMIM:232700
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28	Respiratory distress, Elevated circulating aspartate aminotransferase concentration, Abnormal cir...	OMIM:620375
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Decreased circulating carnitine concentration, Respiratory distress, Abnormality of the liver, In...	ORPHA:254864
Slc35A1-Cdg	Pneumonia, Cellulitis, Giant platelets, Respiratory distress, Subcutaneous hemorrhage, Pulmonary ...	ORPHA:238459
Familial Mediterranean Fever	Erysipelas, Leukocytosis, Splenomegaly, Pleural effusion, Crohn's disease, Orchitis, Hepatomegaly...	OMIM:249100
Congenital Disorder Of Glycosylation, Type Iip	Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased LDL ...	OMIM:616829
Carnitine-Acylcarnitine Translocase Deficiency	Elevated circulating acylcarnitine concentration, Hepatic failure, Decreased circulating carnitin...	ORPHA:159
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Broad-based gait, Recurrent hypoglycemia, Cholestasis, Acute hepatic failure, Hepatic steatosis, ...	OMIM:256810
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Gastroesophageal reflux, Failure to thrive, Decreased liver function, Congestive heart failure, I...	ORPHA:70472
Autoimmune Hepatitis	Inflammation of the large intestine, Elevated circulating hepatic transaminase concentration, Gas...	ORPHA:2137
Methemoglobinemia, Beta Type	Methemoglobinemia, Cyanosis	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia, Cyanosis	OMIM:617973
Lymphatic Malformation 5	Facial edema, Predominantly lower limb lymphedema, Hypoplasia of lymphatic vessels	OMIM:153200
Familial Chylomicronemia Syndrome	Pulmonary embolism, Failure to thrive, Increased circulating chylomicron concentration, Hepatospl...	ORPHA:444490
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Erythema, Pulmonary cyst, Eosinophilic infiltration of the esophagus, High palate, Duodenal ulcer...	OMIM:147060
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Pituitary adenoma, Increased circulating cortisol level, Neuroendocrine neoplasm, Bruising suscep...	ORPHA:189427
Ddost-Cdg	Gastroesophageal reflux, Elevated circulating hepatic transaminase concentration, Failure to thri...	ORPHA:300536
Congenital Disorder Of Glycosylation, Type Iu	Optic atrophy, Elevated circulating hepatic transaminase concentration, Congenital contracture, R...	OMIM:615042
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Hypertrophic cardiomyopathy, Hepatic steatosis, Retinopathy, Cardiomyopathy	OMIM:615119
Noonan Syndrome 1	High, narrow palate, Chylothorax, Juvenile myelomonocytic leukemia, Bruising susceptibility, Lymp...	OMIM:163950
Surfactant Metabolism Dysfunction, Pulmonary, 2	Recurrent pneumonia, Intralobular septal thickening, Intraalveolar phospholipid accumulation, Spo...	OMIM:610913
Mitochondrial Complex I Deficiency, Nuclear Type 11	Pigmentary retinopathy, Failure to thrive, Congestive heart failure, Hypertrophic cardiomyopathy,...	OMIM:618234
Ovarian Hyperstimulation Syndrome	Generalized edema, Ascites, Peripheral edema, Pleural effusion, Pulmonary edema, Increased serum ...	ORPHA:64739
Congenital Disorder Of Glycosylation, Type It	Recurrent otitis media, Hepatic steatosis, Elevated circulating alanine aminotransferase concentr...	OMIM:614921
Hyperproinsulinemia	Hyperglycemia, Hyperinsulinemia	OMIM:616214
Gcgr-Related Hyperglucagonemia	Cholelithiasis, Glucagonoma, Abnormal biliary tract morphology, Neoplasm of the pancreas, Increas...	ORPHA:438274
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Hepatic failure, Periportal fibrosis, E...	OMIM:251880
Cyanosis, Transient Neonatal	Reticulocytosis, Cyanosis, Methemoglobinemia, Hepatomegaly, Anemia, Jaundice	OMIM:613977
Isolated Atp Synthase Deficiency	Optic atrophy, Dilated cardiomyopathy, Respiratory distress, Hypogonadism, Hypertrophic cardiomyo...	ORPHA:254913
Fatty Liver Disease, Susceptibility To, 1	Hepatic steatosis	OMIM:613282
Fatty Liver Disease, Susceptibility To, 2	Hepatic steatosis	OMIM:613387
Congenitally Uncorrected Transposition Of The Great Arteries	Small for gestational age, Failure to thrive, Congestive heart failure, Abnormal QRS complex, Hea...	ORPHA:860
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema	Facial edema, Erythema, Angioedema, Respiratory distress, Tongue edema, Abnormal capillary physio...	ORPHA:100057
Progeria-Short Stature-Pigmented Nevi Syndrome	Decreased serum estradiol, Broad-based gait, Elevated circulating hepatic transaminase concentrat...	ORPHA:2959
Donohue Syndrome	Precocious puberty, Postprandial hyperglycemia, Hepatic fibrosis, Cholestasis, Hyperglycemia, Hyp...	OMIM:246200
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Hepatic failure, Impaired gluconeogenesis, Hepatic steatosis, Hypoglycemia	OMIM:261650
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Respiratory distress, Dilated cardiomyopathy, Polyhydramnios, Decreased body weight	OMIM:300580
Pearson Syndrome	Pancytopenia, Hepatic steatosis, Hypophosphatemia, Neutropenia, Ataxia, Hypoparathyroidism, Hepat...	ORPHA:699
Mucopolysaccharidosis-Plus Syndrome	Chorioretinal hypopigmentation, Nephritis, Recurrent pneumonia, Optic atrophy, Hypoalbuminemia, R...	OMIM:617303
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Decreased motor nerve conduction velocity, Exocrine pancreatic insufficiency, Hyperechogenic panc...	ORPHA:456312
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Cholestasis, Hepatic steatosis, Increased body weight, Cirrhosis, Hepatomegaly, Esophageal varix,...	ORPHA:264580
Citrullinemia, Type Ii, Adult-Onset	Hepatic fibrosis, Portal inflammation, Ballooning hepatocyte degeneration, Hyperammonemia, Hypera...	OMIM:603471
Ring Chromosome 22 Syndrome	Inappropriate behavior, Lymphedema, Gait ataxia, Protruding tongue, Pleural effusion, Edema	ORPHA:1446
Chronic Graft Versus Host Disease	Erythema, Xerostomia, Poor wound healing, Pancytopenia, Weight loss, Anorexia, Bronchiolitis obli...	ORPHA:99921
Dopamine Beta-Hydroxylase Deficiency	Insulin resistance, Orthostatic syncope, Hypoglycemia, Abnormal EKG, Elevated circulating creatin...	ORPHA:230
Congenital Myopathy 22B, Severe Fetal	Pulmonary hypoplasia, Shoulder flexion contracture, Respiratory distress, Ascites, Elbow flexion ...	OMIM:620369
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Hypomethioninemia, Neutropenia, Ataxia, Jaundice, Stomatitis, Macular coloboma, Methylmalonic aci...	ORPHA:79282
Interstitial Pneumonitis, Desquamative, Familial	Recurrent upper respiratory tract infections, Failure to thrive, Respiratory distress, Cyanosis, ...	OMIM:263000
Neurogenic Arthrogryposis Multiplex Congenita	Ankle flexion contracture, Respiratory distress, Elbow flexion contracture, Oligohydramnios, Hip ...	ORPHA:1143
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Elevated circulating thyroid-stimulating hormone concentration, Goiter, Respiratory distress, Dec...	ORPHA:226313
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Broad-based gait, Elevated circulating thyroid-stimulating hormone concentration, Elevated bronch...	OMIM:610978
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypoalbuminemia, Hypermethioninemia, Hepatic failure, Elevated circulating hepatic transaminase c...	OMIM:617156
Eosinophilic Granulomatosis With Polyangiitis	Abnormal pleura morphology, Cutis marmorata, Intestinal obstruction, Weight loss, Tubulointerstit...	ORPHA:183
Cardiogenic Shock	Mitral regurgitation, Arrhythmia, Elevated jugular venous pressure, Orthopnea, Hepatomegaly, ST s...	ORPHA:97292
Coenzyme Q10 Deficiency, Primary, 8	Respiratory distress, Elevated circulating creatinine concentration, Oligohydramnios, Flexion con...	OMIM:616733
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Failure to thrive, Respiratory distress, Cerebral ischemia, Hyperammonemia, Acute hyperammonemia,...	ORPHA:927
Bronchopulmonary Dysplasia	Right ventricular failure, Atelectasis, Respiratory distress, Emphysema, Central apnea, Hyperoxem...	ORPHA:70589
Idiopathic Pulmonary Fibrosis	Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Gastroesophageal reflux, Ortho...	ORPHA:2032
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Elevated circulating hepatic transaminase concentration, Difficulty walking, Abnormal circulating...	ORPHA:369840
Seckel Syndrome 10	Insulin resistance, Elevated circulating luteinizing hormone level, Glycosuria, Congestive heart ...	OMIM:617253
Phosphoserine Aminotransferase Deficiency	Hypoglycinemia, Apnea, Hyposerinemia, Cyanotic episode	OMIM:610992
Acyl-Coa Dehydrogenase 9 Deficiency	Elevated circulating acylcarnitine concentration, Decreased circulating carnitine concentration, ...	ORPHA:99901
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome	Acrocyanosis	ORPHA:86918
Combined Oxidative Phosphorylation Deficiency 30	Gastroesophageal reflux, Failure to thrive, Decreased liver function, Respiratory distress, Eleva...	OMIM:616974
Hypomyelination Neuropathy-Arthrogryposis Syndrome	Respiratory distress	ORPHA:2680
Gorham-Stout Disease	Osteomyelitis, Lymphangioma, Pleural effusion, Edema	ORPHA:73
Matthew-Wood Syndrome	Annular pancreas, Duodenal stenosis, Cryptorchidism, Abnormal spleen morphology, Aplasia/Hypoplas...	ORPHA:2470
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy, Hypoketotic hypo...	OMIM:600649
Recurrent Respiratory Papillomatosis	Recurrent pneumonia, Recurrent upper respiratory tract infections, Failure to thrive, Atelectasis...	ORPHA:60032
Complete Atrioventricular Septal Defect	Abnormal atrioventricular valve physiology, Tachypnea, Elevated jugular venous pressure, Hepatome...	ORPHA:1329
3-Methylglutaconic Aciduria, Type V	Optic atrophy, Dilated cardiomyopathy, Failure to thrive, Congestive heart failure, Normochromic ...	OMIM:610198
Bardet-Biedl Syndrome 19	Hypogonadism, Obesity, Hepatic steatosis, Cone/cone-rod dystrophy, Rod-cone dystrophy	OMIM:615996
3-Methylglutaconic Aciduria, Type Viib	Ataxia, Recurrent pneumonia, Congestive heart failure, Respiratory distress, Leukopenia, Hepatic ...	OMIM:616271
White Sponge Nevus 2	Edema	OMIM:615785
Methylmalonic Aciduria, Cblb Type	Dilated cardiomyopathy, Failure to thrive, Hypoglycemia, Elevated circulating propionylcarnitine ...	OMIM:251110
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Precocious puberty, Postprandial hyperglycemia, Insulin-resistant diabetes mellitus, Hypoglycemia...	OMIM:262190
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Lipid accumulation in hepatocytes, Arrhythmia, Elevated circulating alanine aminotransferase conc...	OMIM:608836
Tempi Syndrome	Polycythemia, Ascites, Increased hematocrit, Transudative pleural effusion, Abnormality of the pu...	ORPHA:284227
Atrial Septal Defect, Ostium Primum Type	Mitral regurgitation, Tachypnea, Abnormally loud pulmonic component of the second heart sound, Pr...	ORPHA:99106
Myotonic Dystrophy 1	Cholelithiasis, Atrial flutter, Respiratory distress, Hypogonadism, Polyhydramnios, Obsessive-com...	OMIM:160900
Dpm1-Cdg	High, narrow palate, Optic atrophy, Hepatic fibrosis, Elevated circulating hepatic transaminase c...	ORPHA:79322
Eisenmenger Syndrome	Abnormal circulating B-type natriuretic peptide concentration, Elevated jugular venous pressure, ...	ORPHA:97214
Lujo Hemorrhagic Fever	Lymphopenia, Periorbital edema, Elevated circulating C-reactive protein concentration, Cerebral e...	ORPHA:319213
Emphysema, Congenital Lobar	Respiratory distress	OMIM:130710
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Optic atrophy, Pigmentary retinopathy, Glycosuria, Decreased liver function, Failure to thrive, R...	OMIM:220110
Gaucher Disease, Perinatal Lethal	Hepatic failure, Arthrogryposis multiplex congenita, Respiratory distress, Ascites, Hepatosplenom...	OMIM:608013
Carnitine-Acylcarnitine Translocase Deficiency	Hypotension, Elevated circulating hepatic transaminase concentration, Atrioventricular block, Hyp...	OMIM:212138
Alpha-1-Antitrypsin Deficiency	Reduced circulating alpha-1-antitrypsin concentration, Elevated circulating hepatic transaminase ...	OMIM:613490
Holocarboxylase Synthetase Deficiency	Perioral eczema, Eczematoid dermatitis, Respiratory distress, Anorexia, Hyperammonemia, Keratocon...	ORPHA:79242
Seizures, Benign Familial Infantile, 3	Apnea, Cyanosis	OMIM:607745
Mitochondrial Pyruvate Carrier Deficiency	Respiratory distress, Hepatomegaly, Increased serum pyruvate, Hypoglycemia	OMIM:614741
Venular Insufficiency, Systemic	Cyanosis	OMIM:192700
Sulfhemoglobinemia, Congenital	Cyanosis	OMIM:185460
Anaplastic Thyroid Carcinoma	Dyspnea, Goiter, Respiratory distress, Tracheoesophageal fistula, Weight loss, Dysphagia, Lymphad...	ORPHA:142
Bronchial Neuroendocrine Tumor	Pneumonia, Increased serum serotonin, Hepatic failure, Hypotension, Right ventricular failure, In...	ORPHA:97287
Congenital Bile Acid Synthesis Defect Type 2	Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, F...	ORPHA:79303
Histiocytosis-Lymphadenopathy Plus Syndrome	Pancreatic hypoplasia, Decreased response to growth hormone stimulation test, Cervical lymphadeno...	OMIM:602782
Autosomal Dominant Keratitis	Cataract, Microcornea, Keratitis, Abnormal corneal limbus morphology, Aniridia, Corneal neovascul...	ORPHA:2334
Hellp Syndrome	Generalized edema, Hypotension, Elevated circulating hepatic transaminase concentration, Poor wou...	ORPHA:244242
Dextrocardia	Meckel diverticulum, Abnormality of abdominal situs, Pancreatic hypoplasia, Intestinal malrotatio...	ORPHA:1666
Hereditary Pulmonary Alveolar Proteinosis	Crazy paving pattern, Respiratory distress, Failure to thrive in infancy, Elevated circulating ca...	ORPHA:264675
Seizures, Benign Familial Infantile, 1	Apnea, Cyanosis	OMIM:601764
Cardiomyopathy, Dilated, 1Gg	Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure, Respiratory distress, Reduce...	OMIM:613642
Patent Ductus Venosus	Persistent patent ductus venosus, Decreased liver function, Congenital portosystemic venous shunt...	OMIM:601466
Mandibuloacral Dysplasia With Type A Lipodystrophy	Insulin-resistant diabetes mellitus, Increased adipose tissue around the neck, Increased facial a...	OMIM:248370
Interstitial Lung And Liver Disease	Hepatic fibrosis, Hepatic failure, Intraalveolar phospholipid accumulation, Failure to thrive, Ch...	OMIM:615486
Abetalipoproteinemia	Broad-based gait, Hyperbilirubinemia, Acanthocytosis, Hepatic steatosis, Cirrhosis, Rod-cone dyst...	ORPHA:14
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures	Respiratory distress, Joint contracture, Inability to walk	OMIM:617977
Mitochondrial Neurogastrointestinal Encephalomyopathy	Elevated circulating hepatic transaminase concentration, Gastroesophageal reflux, Hypogonadotropi...	ORPHA:298
Aicardi-Goutieres Syndrome 7	Pancytopenia, Chilblains, Hepatic steatosis, Weight loss, Hepatomegaly, Recurrent lower respirato...	OMIM:615846
Developmental And Epileptic Encephalopathy 30	Respiratory distress, Motor stereotypy	OMIM:616341
Double Outlet Right Ventricle	Aplasia/Hypoplasia of the thymus, Failure to thrive, Intestinal malrotation, Heart murmur, Hypoca...	ORPHA:3426
Atelis Syndrome 2	Gastroesophageal reflux, Elevated circulating thyroid-stimulating hormone concentration, Hyperins...	OMIM:620185
Hereditary Methemoglobinemia	Cyanosis, Methemoglobinemia, Exertional dyspnea, Athetosis, Small for gestational age	ORPHA:621
Rabson-Mendenhall Syndrome	Insulin-resistant diabetes mellitus, Premature graying of hair, Reduced subcutaneous adipose tiss...	ORPHA:769
Myasthenic Syndrome, Congenital, 4A, Slow-Channel	Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Dysphagia, Sudden...	OMIM:605809
Congenital Myasthenic Syndrome	Gastroesophageal reflux, Arthrogryposis multiplex congenita, Tip-toe gait, Recurrent respiratory ...	ORPHA:590
Presynaptic Congenital Myasthenic Syndromes	Gastroesophageal reflux, Arthrogryposis multiplex congenita, Tip-toe gait, Recurrent respiratory ...	ORPHA:98914
Combined Oxidative Phosphorylation Deficiency 9	Failure to thrive, Hypertrophic cardiomyopathy, Elevated circulating aspartate aminotransferase c...	OMIM:614582
Pulmonary Alveolar Microlithiasis	Right ventricular failure, Bronchitis, Interlobular septal thickening, Subpleural interstitial th...	ORPHA:60025
Farber Disease	Hepatic fibrosis, Hepatic failure, Macular degeneration, Elevated circulating hepatic transaminas...	ORPHA:333
Prader-Willi Syndrome	Hyperinsulinemia, Type II diabetes mellitus, Polyphagia, Cutaneous photosensitivity, Precocious p...	OMIM:176270
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Hepatic steatosis, Cirrhosis, Hepatomegaly, High palate, Neonatal hypoglycemia, Failure to thrive...	OMIM:619418
Bullous Dystrophy, Hereditary Macular Type	Acrocyanosis	OMIM:302000
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Failure to thrive, Respiratory distress, Hypomethioninemia, Lethargy, Gait disturbance, Megalobla...	OMIM:250940
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Respiratory distress, Osteomyelitis, Failure to thrive in infancy, Splenomegaly, Abscess, Skin ra...	OMIM:612852
Bdv Syndrome	Central hypothyroidism, Decreased serum testosterone concentration, Hyperinsulinemia, Obesity, Ty...	OMIM:619326
Leptin Deficiency Or Dysfunction	Recurrent pneumonia, Recurrent upper respiratory tract infections, Hypogonadism, Obesity, Polypha...	OMIM:614962
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Hypoalbuminemia, Edema, Anasarca, Gait ataxia, Pleural effusion, Thrombocytopenia, Unsteady gait,...	OMIM:254900
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Optic atrophy, Elevated circulating hepatic transaminase concentration, Contractures of the large...	ORPHA:329178
Meconium Aspiration Syndrome	Atelectasis, Aspiration pneumonia, Respiratory distress, Pneumothorax, Pulmonary arterial hyperte...	ORPHA:70588
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Respiratory distress, Bradykinesia, Neuromuscular dysphagia, Falls	ORPHA:240085
Fructose-1,6-Bisphosphatase Deficiency	Neonatal hyperbilirubinemia, Elevated circulating hepatic transaminase concentration, Hypoglycemi...	ORPHA:348
Surfactant Metabolism Dysfunction, Pulmonary, 1	Absent bronchoalveolar dimeric surfactant-protein B, Intraalveolar phospholipid accumulation, Fai...	OMIM:265120
Ovarian Fibroma	Ascites, Peritonitis, Pleural effusion, Mesenteric cyst	ORPHA:314473
Srd5A3-Cdg	Optic atrophy, Cataract, Elevated circulating hepatic transaminase concentration, Optic disc hypo...	ORPHA:324737
Lysosomal Acid Lipase Deficiency	Adrenal calcification, Hepatosplenomegaly, Hypersplenism, Xanthelasma, Fatal liver failure in inf...	ORPHA:275761
Aicardi-Goutieres Syndrome 1	Vasculitis, Erythema, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, In...	OMIM:225750
Short Stature, Dauber-Argente Type	Increased insulin like growth factor binding protein acid labile subunit concentration, Fasting h...	OMIM:619489
Myasthenia Gravis	Rheumatoid arthritis, Hepatitis, Glycosuria, Primary adrenal insufficiency, Acrocyanosis, Myositi...	ORPHA:589
Lymphangiectasia, Intestinal	Intestinal lymphangiectasia, Edema, Pedal edema	OMIM:152800
Triosephosphate Isomerase Deficiency	Normocytic anemia, Cholelithiasis, Failure to thrive, Congestive heart failure, Respiratory distr...	OMIM:615512
Glycogen Storage Disease Iv	Hepatic failure, Edema, Cardiomyopathy, Failure to thrive, Ascites, Abnormal circulating creatine...	OMIM:232500
Microphthalmia, Isolated 4	Absent testis, Coloboma	OMIM:613094
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Recurrent pneumonia, Respiratory distress, Difficulty walking, Failure to thrive in infancy, Dysp...	ORPHA:254875
Atypical Werner Syndrome	Aortic valve stenosis, Subcutaneous calcification, Insulin-resistant diabetes mellitus, Premature...	ORPHA:79474
X-Linked Centronuclear Myopathy	Pneumonia, Recurrent respiratory infections, Respiratory distress, Inability to walk, Polyhydramn...	ORPHA:596
Isolated Right Ventricular Hypoplasia	Bidirectional shunt, Abnormal atrioventricular conduction, Right ventricular failure, Right-to-le...	ORPHA:439
Acquired Methemoglobinemia	Respiratory distress, Palpitations, Cyanosis, Methemoglobinemia, Arrhythmia, Syncope, Dyspnea, Ta...	ORPHA:464453
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Congenital shortened small intestine, Neonatal death, Pulmonary lymphangiectasia, Anal atresia, D...	OMIM:265380
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Hypoalbuminemia, Intrahepatic cholestasis, Hepatic fibrosis, Failure to thrive, Hypoglycemia, Dec...	OMIM:617093
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	Respiratory distress	ORPHA:171703
Atrial Septal Defect, Ostium Secundum Type	Mitral regurgitation, Arrhythmia, Orthopnea, Pedal edema, Systolic heart murmur, Right ventricula...	ORPHA:99103
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Retinal dysplasia, Coloboma, Ocular anterior segment dysgenesis, Developmental cataract	ORPHA:324416
Familial Idiopathic Dilatation Of The Right Atrium	Abnormality of the hepatic vasculature, Atrioventricular block, Complete heart block with narrow ...	ORPHA:1677
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Failu...	ORPHA:369
Chronic Pneumonitis Of Infancy	Intercostal retractions, Failure to thrive, Respiratory distress, Cyanosis, Tachypnea, Hyperventi...	ORPHA:91359
Eosinophilic Gastroenteritis	Allergic rhinitis, Atopic dermatitis, Hypoalbuminemia, Protein-losing enteropathy, Hematochezia, ...	ORPHA:2070
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Respiratory distress, Oligohydramnios, Lipoatrophy, Failure to thrive	ORPHA:261304
Hyperimmunoglobulinemia D With Periodic Fever	Vasculitis, Gastrointestinal hemorrhage, Erythema, Recurrent aphthous stomatitis, Intestinal obst...	ORPHA:343
X-Linked Acrogigantism	Abnormal optic chiasm morphology, Pituitary adenoma, Increased circulating prolactin concentratio...	ORPHA:300373
Craniofaciofrontodigital Syndrome	Aortic valve stenosis, Mitral regurgitation, Hernia, Persistent fetal circulation, Arrhythmia, Lo...	ORPHA:363705
Rajab Interstitial Lung Disease With Brain Calcifications 1	Cholestasis, Slender build, Pancytopenia, Hepatic steatosis, Tachypnea, Cirrhosis, Unconjugated h...	OMIM:613658
Dihydropyrimidine Dehydrogenase Deficiency	Optic atrophy, Failure to thrive, Lethargy, Coloboma, Hyperactivity	OMIM:274270
Hypoadrenocorticism, Familial	Hypoglycemia, Adrenal insufficiency, Apnea, Cyanosis, Hyponatremia, Adrenal hypoplasia, Hyperkalemia	OMIM:240200
Severe Acute Respiratory Syndrome	Respiratory distress, Acute infectious pneumonia, Dyspnea, Diabetes mellitus, Hypoxemia	ORPHA:140896
Respiratory Distress Syndrome In Premature Infants	Atelectasis, Respiratory distress, Pulmonary edema, Tachypnea, Dyspnea, Edema	OMIM:267450
Histiocytoid Cardiomyopathy	Junctional ectopic tachycardia, Optic atrophy, Atrioventricular block, Atrial flutter, Failure to...	ORPHA:137675
Retinitis Pigmentosa	Optic atrophy, Hypogonadism, Hyperinsulinemia, Attenuation of retinal blood vessels, Type II diab...	ORPHA:791
Carnitine Palmitoyltransferase I Deficiency	Elevated circulating hepatic transaminase concentration, Elevated circulating aspartate aminotran...	OMIM:255120
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Optic atrophy, Dilated cardiomyopathy, Respiratory distress, Hypertrophic cardiomyopathy, Hypergl...	OMIM:614299
Anterior Segment Dysgenesis 8	Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Optic nerve ...	OMIM:617319
Wilson Disease	Hypouricemia, Acute hepatic failure, Hyperbilirubinemia, Hepatic steatosis, Cirrhosis, Elevated c...	OMIM:277900
Pontocerebellar Hypoplasia, Type 11	Self-injurious behavior, Broad-based gait, Recurrent respiratory infections, Difficulty walking, ...	OMIM:617695
Lethal Osteosclerotic Bone Dysplasia	Respiratory distress, Dyspnea, Median cleft palate	ORPHA:1832
Immunodeficiency 40	Focal active colitis, Recurrent pneumonia, Eosinophilic granuloma, Recurrent otitis media, Elevat...	OMIM:616433
Ethylene Glycol Poisoning	Hypotension, Abnormal pattern of respiration, Congestive heart failure, Shock, Hypocalcemia, Cyan...	ORPHA:31826
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Elevated circulating hepatic transaminase concentration, Decreased circulating carnitine concentr...	OMIM:201450
Muscular Dystrophy, Congenital, With Or Without Seizures	Type I diabetes mellitus, Respiratory distress, Elevated circulating creatine kinase concentratio...	OMIM:620166
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Bifid uvula, Gastroesophageal reflux, Failure to thrive, Bruxism, Furrowed tongue, Increased nuch...	ORPHA:453499
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Respiratory distress, Ataxia	OMIM:619099
Thyroid Lymphoma	Goiter, Respiratory distress, Hashimoto thyroiditis, Hypothyroidism, Hyperthyroidism, Lymphadenop...	ORPHA:97285
17Q12 Microdeletion Syndrome	Oligohydramnios, Cryptorchidism, Elevated circulating hepatic transaminase concentration, Pancrea...	ORPHA:261265
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Iris coloboma, Coloboma, Peters anomaly, Ocular anterior segment dysgenesis	OMIM:610023
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Optic atrophy, Pigmentary retinopathy, Glycosuria, Decreased liver function, Failure to thrive, H...	ORPHA:436271
Chylomicron Retention Disease	Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypocholesterolemia, ...	ORPHA:71
Generalized Pseudohypoaldosteronism Type 1	Atopic dermatitis, Cholelithiasis, Hypovolemic shock, Recurrent tonsillitis, Abnormal circulating...	ORPHA:171876
Mitochondrial Trifunctional Protein Deficiency	Pigmentary retinopathy, Tip-toe gait, Cardiomyopathy, Congestive heart failure, Cholestasis, Tric...	ORPHA:746
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Optic atrophy, Recurrent respiratory infections, Respiratory distress, Inability to walk, Hypertr...	OMIM:619383
Lissencephaly Syndrome, Norman-Roberts Type	Respiratory distress, Hypoplastic spleen, Dysphagia, Abnormal retinal morphology	ORPHA:89844
Primary Pulmonary Hypoplasia	Abnormal pulmonary artery morphology, Failure to thrive, Apnea, Cyanosis, Tachypnea, Pneumothorax...	ORPHA:2257
Alkuraya-Kucinskas Syndrome	Pleural effusion, Camptodactyly, Pericardial effusion, High palate, Arthrogryposis multiplex cong...	OMIM:617822
Liver Disease, Severe Congenital	Portal inflammation, Recurrent otitis media, Hyperbilirubinemia, Hepatic steatosis, Pulmonary ede...	OMIM:619991
Rett Syndrome	Failure to thrive, Abnormal pattern of respiration, Difficulty walking, Inability to walk, Increa...	ORPHA:778
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Bronchiectasis, Atelectasis, Respiratory distress, Recurrent respiratory infections, Chronic otit...	OMIM:619466
Lethal Recessive Chondrodysplasia	Respiratory distress, Macroglossia, Polyhydramnios, Edema	ORPHA:1423
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Atrioventricular block, Failure to thrive, Glucose intolerance, Joint contracture of the 5th fing...	OMIM:614407
Congenital Disorder Of Glycosylation, Type Ig	Recurrent pneumonia, Recurrent upper respiratory tract infections, Failure to thrive, Hypoglycemi...	OMIM:607143
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Inability to walk, Apnea, Gait ataxia, Recurrent hand flapping, Protruding tongue, Cyanosis, Aggr...	OMIM:619580
Cardiomyopathy, Familial Hypertrophic, 4	Atrioventricular block, Dyspnea, Congestive heart failure, Respiratory distress, Ascites, Hypertr...	OMIM:115197
19P13.12 Microdeletion Syndrome	Precocious puberty, Self-injurious behavior, Aortic regurgitation, Obesity, Hyperlipidemia, Hepat...	ORPHA:254346
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Chole...	ORPHA:541423
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Inflammation of the large intestine, Periodontitis, Xanthelasma, Hepatic steatosis, Hepatomegaly,...	ORPHA:79259
Hereditary Angioedema Type 1	Facial edema, Hypotension, Dermatographic urticaria, Respiratory distress, Tongue edema, Laryngea...	ORPHA:100050
Mogs-Cdg	Optic atrophy, Generalized edema, Respiratory distress, Hepatosplenomegaly, Apnea, Polyhydramnios...	ORPHA:79330
Combined Oxidative Phosphorylation Deficiency 21	Hyperprolinemia, Hyperalaninemia, Hepatic steatosis, Neonatal death	OMIM:615918
Bangstad Syndrome	Type I diabetes mellitus, Increased circulating cortisol level, Abnormality of the parathyroid gl...	ORPHA:1227
Pancreatitis, Hereditary	Exocrine pancreatic insufficiency, Pleural effusion, Pancreatic calcification, Pancreatitis, Stea...	OMIM:167800
Isolated Permanent Neonatal Diabetes Mellitus	Pancreatic hypoplasia, Reduced pancreatic beta cells, Retinopathy, Dehydration	ORPHA:99885
Folinic Acid-Responsive Seizures	Optic atrophy, Broad-based gait, Respiratory distress, Difficulty walking, Apnea, Ataxia	ORPHA:79097
Brain-Lung-Thyroid Syndrome	Abnormal eating behavior, Ataxia, Hypoparathyroidism, Choreoathetosis, Falls, Hyperactivity, Recu...	ORPHA:209905
Mitochondrial Complex I Deficiency, Nuclear Type 1	Hepatic failure, Failure to thrive, Hypoglycemia, Concentric hypertrophic cardiomyopathy, Hypertr...	OMIM:252010
Multiple Acyl-Coa Dehydrogenase Deficiency	Elevated circulating glutaric acid concentration, Glycosuria, Hypoglycemia, Hepatic periportal ne...	OMIM:231680
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Failure to thrive, Respiratory distress, Inguinal hernia, Edema of the dorsum of hands, Edema of ...	ORPHA:544503
Tetrasomy 5P	Failure to thrive, Recurrent respiratory infections, Congestive heart failure, Respiratory distre...	ORPHA:3309
Shwachman-Diamond Syndrome	Bone marrow hypocellularity, Elevated circulating hepatic transaminase concentration, Pancreatic ...	ORPHA:811
Congenital Diaphragmatic Hernia	Respiratory distress, Intestinal malrotation, Congenital diaphragmatic hernia, Hypoxemia, Pulmona...	ORPHA:2140
Renal-Hepatic-Pancreatic Dysplasia 1	Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrhosis, Polysplenia, Chole...	OMIM:208540
Peripartum Cardiomyopathy	Mitral regurgitation, Elevated jugular venous pressure, Orthopnea, Left bundle branch block, Tach...	ORPHA:563
Primary Hepatic Neuroendocrine Carcinoma	Increased serum serotonin, Elevated circulating hepatic transaminase concentration, Neuroendocrin...	ORPHA:100085
N-Acetylglutamate Synthase Deficiency	Failure to thrive, Respiratory distress, Hyperammonemia, Hyperglutamatemia, Aggressive behavior, ...	OMIM:237310
Toxic Epidermal Necrolysis	Erythema, Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, P...	ORPHA:537
Pancreatic And Cerebellar Agenesis	Pancreatic hypoplasia, Pancreatic aplasia, Optic nerve hypoplasia	OMIM:609069
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6	Arthrogryposis-like hand anomaly, Respiratory distress, Recurrent acute respiratory tract infecti...	OMIM:620011
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Elevated circulating acylcarnitine concentration, Hepatic failure, Elevated circulating hepatic t...	ORPHA:228305
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hypoalbuminemia, Generalized edema, Pulmonary embolism, Intestinal lymphangiectasia, Ascites, Bud...	OMIM:226300
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Cardiomyopathy, Respiratory distress, Difficulty walking, Elevated circulating creatine kinase co...	ORPHA:86812
Sea-Blue Histiocytosis	Sea-blue histiocytosis, Retinopathy, Splenomegaly, Petechiae, Thrombocytopenia, Hepatomegaly, Med...	ORPHA:158029
Osteootohepatoenteric Syndrome	Hepatic fibrosis, Portal fibrosis, Failure to thrive, Cholestasis, Villous atrophy, Increased int...	OMIM:619377
Parenteral Nutrition-Associated Cholestasis	Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc...	ORPHA:567983
Drug Reaction With Eosinophilia And Systemic Symptoms	Erythema, Elevated circulating hepatic transaminase concentration, Hepatitis, Angioedema, Acute h...	ORPHA:139402
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Cholestasis, Hepatosplenomegaly, Hyperbilirubinemia, Hyperthreoninemia, Increased LDL cholesterol...	ORPHA:247598
Neutral Lipid Storage Disease With Myopathy	Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Difficulty walking, Chro...	OMIM:610717
Gitelman Syndrome	Type II diabetes mellitus, Parathyroid adenoma, Tubulointerstitial nephritis, Ventricular fibrill...	ORPHA:358
Duodenal Atresia	Polyhydramnios, Annular pancreas, Duodenal atresia, Abnormality of the pancreas	ORPHA:1203
Benign Familial Infantile Epilepsy	Apnea, Cyanosis	ORPHA:306
Abruzzo-Erickson Syndrome	Microcornea, Chorioretinal coloboma, Cryptorchidism, Coloboma, Iris coloboma, Cleft palate	ORPHA:921
Exfoliation Syndrome	Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Retinal vein occlusion, Phakodo...	OMIM:177650
Congenital Fibrinogen Deficiency	Volvulus, Bruising susceptibility, Subcutaneous hemorrhage, Cyanosis, Splenic rupture, Internal h...	ORPHA:335
Infantile Liver Failure Syndrome 1	Elevated circulating hepatic transaminase concentration, Failure to thrive, Acute hepatic failure...	OMIM:615438
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Hypermethioninemia, Failure to thrive, Cutis marmorata, Hepatic steatosis, Inguinal hernia, Pancr...	OMIM:236200
Progressive Supranuclear Palsy-Corticobasal Syndrome	Respiratory distress, Bradykinesia, Dysphagia	ORPHA:240103
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Ataxia, Hepatomegaly, Jaundice, Hypoproteinem...	OMIM:603553
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Failure to thrive, Respiratory distress, Gait ataxia, Cachexia, Weight loss	OMIM:612075
Nipah Virus Disease	Hypotension, Respiratory distress, Infectious encephalitis, Recurrent pharyngitis, Anorexia	ORPHA:99825
Neuralgic Amyotrophy	Bifid uvula, Acrocyanosis, Cleft palate	ORPHA:2901
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Elevated circulating hepatic transaminase concentration, Abnormality of exocrine pancreas physiol...	ORPHA:93111
Dysbetalipoproteinemia	Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Xanthelasma, Go...	ORPHA:412
Renal Cysts And Diabetes Syndrome	Elevated circulating hepatic transaminase concentration, Abnormality of alkaline phosphatase leve...	OMIM:137920
Hypermethioninemia Due To Adenosine Kinase Deficiency	Hypermethioninemia, Portal fibrosis, Elevated circulating S-adenosyl-L-homocysteine concentration...	OMIM:614300
Pulmonary Alveolar Proteinosis, Acquired	Pneumonia, Brain abscess, Intraalveolar phospholipid accumulation, Cyanosis, Lung abscess, Dyspne...	OMIM:610910
3-Methylglutaconic Aciduria Type 7	Infection associated neutropenia, Elevated circulating hepatic transaminase concentration, Cardio...	ORPHA:445038
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Premature adrenarche, Increased circulating prolactin concentration, Hyperglycemia, Polyphagia, C...	ORPHA:293987
Laryngotracheal Angioma	Respiratory distress, Apnea, Intercostal retractions, Cyanosis	ORPHA:137935
Postinfectious Vasculitis	Inflammatory abnormality of the skin, Palpable purpura, Cutis marmorata, Retinal vasculitis, Abno...	ORPHA:48435
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Hyposerinemia, Ankle flexion contracture, Failure to thrive in infancy, Hyperglycinemia, Knee fle...	ORPHA:284417
Multiple Myeloma	Elevated circulating creatinine concentration, Functional abnormality of the gastrointestinal tra...	ORPHA:29073
Leprechaunism	Postprandial hyperglycemia, Insulin resistance, Megarectum, Central hypothyroidism, Failure to th...	ORPHA:508
Congenital Disorder Of Glycosylation, Type Iy	Respiratory distress, Failure to thrive	OMIM:300934
Campomelia, Cumming Type	Pancreatic cysts, Polycystic liver disease, Polysplenia, Lymphedema	OMIM:211890
Dilated Cardiomyopathy With Ataxia	Optic atrophy, Elevated circulating hepatic transaminase concentration, Elevated circulating glut...	ORPHA:66634
American Trypanosomiasis	Periorbital edema, Cardiomyopathy, Congestive heart failure, Skin rash, Splenomegaly, Infectious ...	ORPHA:3386
Multiple Mitochondrial Dysfunctions Syndrome 7	Hypoglycemia, Decreased liver function, Hyperglycemia, Apnea, Hyperglycinemia, Agitation, Cyanosi...	OMIM:620423
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Increased total bilirubin, Cholestasis,...	OMIM:618528
Laryngotracheoesophageal Cleft	Recurrent respiratory infections, Cyanosis, Dyspnea, Choking episodes, Impaired oropharyngeal swa...	ORPHA:2004
Acquired Purpura Fulminans	Hepatic failure, Macular purpura, Shock, Skin rash, Internal hemorrhage, Thrombocytopenia, Elevat...	ORPHA:49566
Combined Oxidative Phosphorylation Deficiency 11	Decreased liver function, Cardiomyopathy, Polyhydramnios, Hepatic steatosis, Neonatal death, Leth...	OMIM:614922
Moebius Syndrome	Bifid uvula, Arthrogryposis multiplex congenita, Respiratory distress, Hypogonadotropic hypogonad...	OMIM:157900
Cocaine Intoxication	Pulmonary edema, Tachypnea, Glomerulonephritis, Tubulointerstitial nephritis, Tachycardia, Intest...	ORPHA:90068
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Hepatosplenomegaly, Mitral regurgitation, Hernia, Tachycardia, Inability to walk, Hypertrophic ca...	ORPHA:505248
Autosomal Erythropoietic Protoporphyria	Cholelithiasis, Cirrhosis, Decreased liver function, Edema	ORPHA:79278
Mitochondrial Complex I Deficiency, Nuclear Type 20	Hepatic failure, Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy,...	OMIM:611126
Short Fifth Metacarpals-Insulin Resistance Syndrome	Hyperinsulinemia, Spherocytosis, Splenomegaly	ORPHA:66518
Cimdag Syndrome	Cholelithiasis, Hypogonadism, Microvesicular hepatic steatosis, Lipodystrophy, Ataxia, Hepatomega...	OMIM:619273
Infantile-Onset X-Linked Spinal Muscular Atrophy	Ankle flexion contracture, Interphalangeal joint contracture of finger, Respiratory distress, Elb...	ORPHA:1145
Methylmalonic Aciduria, Cbla Type	Failure to thrive, Respiratory distress, Pancytopenia, Hyperglycinemia, Hyperammonemia, Hepatomeg...	OMIM:251100
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Acute hepatic steatosis, Failure to thrive, Hypoglycemia, Apnea, Acute hyperammonemia, Lethargy	OMIM:210200
Estrogen Resistance	Hyperinsulinemia, Glucose intolerance, Increased serum estradiol, Increased circulating osteocalc...	OMIM:615363
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive	Respiratory distress, Failure to thrive, Decreased response to growth hormone stimulation test, L...	OMIM:245590
Combined Oxidative Phosphorylation Deficiency 19	Gastroesophageal reflux, Failure to thrive, Respiratory distress, Elevated circulating aspartate ...	OMIM:615595
Lymphatic Malformation 10	Lymphedema	OMIM:619369
Hypothyroidism Due To Tsh Receptor Mutations	Neonatal hyperbilirubinemia, Elevated circulating thyroid-stimulating hormone concentration, Edem...	ORPHA:90673
Atrial Septal Defect, Coronary Sinus Type	Pneumonia, Right ventricular failure, Bundle branch block, Transient ischemic attack, Palpitation...	ORPHA:99104
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Respiratory distress, Hypertrophic cardiomyopathy, Lethargy, Irregular respiration, Hepatomegaly,...	OMIM:604377
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Elevated circulating hepatic transaminase concentration, Gastroesophageal reflux, Failure to thri...	ORPHA:17
Mixed Connective Tissue Disease	Xerostomia, Hepatomegaly, Purpura, Gastrointestinal hemorrhage, Gastroesophageal reflux, Myositis...	ORPHA:809
Alström Syndrome	Decreased circulating T4 concentration, Hepatosplenomegaly, Hyperinsulinemia, Type II diabetes me...	ORPHA:64
Dermatomyositis	Cellulitis, Erythema, Abnormal eosinophil morphology, Lung adenocarcinoma, Arrhythmia, Weight los...	ORPHA:221
Beta-Ketothiolase Deficiency	Hypotension, Edema, Hypoglycemia, Dehydration, Anorexia, Hyperglycemia, Thrombocytosis, Leukocyto...	ORPHA:134
Immunodeficiency 47	Accessory spleen, Normocytic anemia, Hepatic bridging fibrosis, Hepatic fibrosis, Elevated circul...	OMIM:300972
Encephalopathy, Ethylmalonic	Elevated circulating butyrylcarnitine concentration, Failure to thrive, Petechiae, Abnormal retin...	OMIM:602473
Arima Syndrome	Optic atrophy, Hepatic fibrosis, Polydipsia, Chorioretinal coloboma, Hepatic steatosis, Hepatomeg...	OMIM:243910
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Cardiomyopathy, Congestive heart failure, Hepatic steatosis, Elevated circulating creatine kinase...	ORPHA:52430
Auriculocondylar Syndrome 2A	Microglossia, Respiratory distress, Apnea, Glossoptosis, Cleft palate	OMIM:614669
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Anterior pituitary agenesis, Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Intestinal...	ORPHA:2255
Neuroblastoma	Elevated circulating catecholamine level, Increased circulating ferritin concentration, Respirato...	ORPHA:635
Anterior Segment Dysgenesis 2	Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Col...	OMIM:610256
Breath-Holding Spells	Iron deficiency anemia, Cyanosis	OMIM:607578
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat...	OMIM:605911
Infantile Liver Failure Syndrome 3	Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Cholestasis, ...	OMIM:618641
Proteasome-Associated Autoinflammatory Syndrome 4	Erythema, Generalized lipodystrophy, Splenomegaly, Autoimmune hemolytic anemia, Myositis, Lymphad...	OMIM:619183
Postsynaptic Congenital Myasthenic Syndromes	High palate, Exertional dyspnea, Orthopnea, Cyanosis	ORPHA:98913
Congenital Tracheal Stenosis	Fetal ascites, Abnormal lung morphology, Meckel diverticulum, Duodenal stenosis, Respiratory dist...	ORPHA:141127
Combined Oxidative Phosphorylation Defect Type 23	Paroxysmal dyspnea, Failure to thrive, Congestive heart failure, Hypertrophic cardiomyopathy, Cya...	ORPHA:444013
Telangiectasia, Hereditary Hemorrhagic, Type 2	Gastrointestinal angiodysplasia, Nasal mucosa telangiectasia, Cirrhosis, Polycythemia, Facial tel...	OMIM:600376
Listeriosis	Arteritis, Abscess, Pustule, Ataxia, Jaundice, Endocarditis, Osteomyelitis, Peritonitis, Hepatic ...	ORPHA:533
Alternating Hemiplegia Of Childhood	Failure to thrive, Oral-pharyngeal dysphagia, Dehydration, Respiratory distress, Anorexia, Cardio...	ORPHA:2131
Neutral Lipid Storage Disease With Ichthyosis	Ataxia, Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Cardiomy...	ORPHA:98907
Citrullinemia, Type Ii, Neonatal-Onset	Hypermethioninemia, Intrahepatic cholestasis, Portal fibrosis, Failure to thrive, Decreased HDL c...	OMIM:605814
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Acute hepatic steatosis, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Obesity...	ORPHA:209902
Ileal Neuroendocrine Tumor	Increased serum serotonin, Arrhythmia, Weight loss, Functional intestinal obstruction, Right vent...	ORPHA:100078
Kniest Dysplasia	Umbilical hernia, Respiratory distress, Recurrent otitis media, Inguinal hernia, Hip contracture,...	OMIM:156550
Steinert Myotonic Dystrophy	Intestinal pseudo-obstruction, Oral-pharyngeal dysphagia, Hyperinsulinemia, Obsessive-compulsive ...	ORPHA:273
Coach Syndrome 1	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Intrahepatic bile duct...	OMIM:216360
Adrenomyodystrophy	Abnormal intestine morphology, Primary adrenal insufficiency, Hepatic steatosis, Failure to thrive	ORPHA:977
Neutral Lipid Storage Myopathy	Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Congestive heart failure...	ORPHA:98908
Kallmann Syndrome-Heart Disease Syndrome	Aortic regurgitation, Pulmonary artery hypoplasia, Dilated cardiomyopathy, Congestive heart failu...	ORPHA:2326
Tuberous Sclerosis Complex	Chorioretinal hypopigmentation, Parathyroid adenoma, Self-injurious behavior, Pituitary adenoma, ...	ORPHA:805
Pmm2-Cdg	Increased circulating prolactin concentration, Aspiration pneumonia, Hyperinsulinemia, Impaired n...	ORPHA:79318
Restrictive Dermopathy 2	Respiratory distress, Cyanosis, Gastroesophageal reflux, Rectal prolapse	OMIM:619793
Glycogen Storage Disease Due To Acid Maltase Deficiency	Difficulty walking, Orthopnea, Elevated circulating alanine aminotransferase concentration, Hepat...	ORPHA:365
Plague	Inflammation of the large intestine, Lymphadenitis, Ileitis, Arrhythmia, Acute infectious pneumon...	ORPHA:707
Congenital Tracheomalacia	Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, In...	ORPHA:95430
Gaisböck Syndrome	Increased red blood cell count, Obesity, Elevated plasma cell count, Hypertriglyceridemia, Hypovo...	ORPHA:90041
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Cone/cone-rod dystrophy, Hepatomegaly, Optic disc pallor, Hypotriglyceridemia, Inability to walk,...	ORPHA:404454
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Difficulty walking, Failure to thrive in infancy, Gait imbalance, Cyanosis, Aggressive behavior, ...	ORPHA:488627
Buerger Disease	Vasculitis, Arterial occlusion, Intermittent claudication, Livedo reticularis, Raynaud phenomenon...	ORPHA:36258
Estrogen Resistance Syndrome	Absence of secondary sex characteristics, Absence of pubertal development, Hyperinsulinemia, Gluc...	ORPHA:785
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Elevated gamma-glutamyltransferase level, Exocrine pancreatic insufficiency, Absent gallbladder, ...	OMIM:618500
Fucosidosis	Failure to thrive, Vascular skin abnormality, Abnormality of the gallbladder, Hypothyroidism, Hep...	ORPHA:349
Dravet Syndrome	Obsessive-compulsive trait, Progressive gait ataxia, Cyanotic episode, Bradykinesia, Impulsivity	ORPHA:33069
Deafness, Unilateral, With Delayed Endolymphatic Hydrops	Edema	OMIM:612097
Benign Familial Neonatal Epilepsy	Circumoral cyanosis, Apnea, Gastroesophageal reflux	ORPHA:1949
Turner Syndrome Due To Structural X Chromosome Anomalies	Inflammation of the large intestine, Recurrent otitis media, Hyperinsulinemia, Type II diabetes m...	ORPHA:99413
Mosaic Monosomy X	Inflammation of the large intestine, Recurrent otitis media, Hyperinsulinemia, Type II diabetes m...	ORPHA:99228
Monosomy X	Inflammation of the large intestine, Recurrent otitis media, Hyperinsulinemia, Type II diabetes m...	ORPHA:99226
Turner Syndrome	Inflammation of the large intestine, Recurrent otitis media, Hyperinsulinemia, Type II diabetes m...	ORPHA:881
Combined Oxidative Phosphorylation Deficiency 37	Hypoalbuminemia, Optic atrophy, Elevated circulating hepatic transaminase concentration, Failure ...	OMIM:618329
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	High, narrow palate, Elevated circulating acylcarnitine concentration, Hepatic failure, Cardiomyo...	ORPHA:228308
Genetic Transient Congenital Hypothyroidism	Thyroid defect in oxidation and organification of iodide, Elevated circulating thyroid-stimulatin...	ORPHA:226316
Mitochondrial Dna-Associated Leigh Syndrome	Optic atrophy, Pigmentary retinopathy, Hepatic failure, Dilated cardiomyopathy, Failure to thrive...	ORPHA:255210
Familial Nasal Acilia	Recurrent upper respiratory tract infections, Atelectasis, Respiratory distress, Chronic sinusiti...	ORPHA:922
Microphthalmia, Syndromic 5	Ectopic posterior pituitary, Cataract, Microcornea, Cryptorchidism, Coloboma, Cleft palate, Retin...	OMIM:610125
Congenital Analbuminemia	Hypoalbuminemia, Facial edema, Edema, Obesity, Oligohydramnios, Hyperlipidemia, Lipodystrophy, Hy...	ORPHA:86816
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Hypoketotic hypoglycemia, Hepatic necrosis, ...	OMIM:231530
Absence Of The Pulmonary Artery	Atrial fibrillation, Recurrent pneumonia, Atrial flutter, Congestive heart failure, Abnormal EKG,...	ORPHA:980
Congenital Tricuspid Valve Dysplasia	Small for gestational age, Tricuspid regurgitation, Cyanosis, Tachypnea, Hepatomegaly, Pericardia...	ORPHA:555874
Corneal Dystrophy, Fuchs Endothelial, 2	Corneal guttata, Corneal degeneration, Corneal dystrophy, Edema	OMIM:610158
Stt3B-Cdg	Respiratory distress, Optic atrophy, Failure to thrive, Thrombocytopenia	ORPHA:370924
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Cholelithiasis, Severe B lymphocytopenia, Pancreatic hypoplasia, Cryptorchidism, Biliary hyperpla...	ORPHA:83617
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Broad-based gait, Chorioretinal coloboma, Ankyloglossia, Hyperbilirubinemia, Hepatic steatosis, D...	OMIM:619475
Ethylmalonic Encephalopathy	Retinal vascular tortuosity, Failure to thrive, Petechiae, Ataxia, Acrocyanosis	ORPHA:51188
Congenital Disorder Of Glycosylation, Type Ix	Respiratory distress, Optic atrophy, Failure to thrive, Thrombocytopenia	OMIM:615597
Autoimmune Pulmonary Alveolar Proteinosis	Crazy paving pattern, Intraalveolar phospholipid accumulation, Cyanosis, Abnormal circulating pro...	ORPHA:747
Noonan Syndrome 10	Hypertrophic cardiomyopathy, Increased nuchal translucency, Pleural effusion, Mitral regurgitatio...	OMIM:616564
Microlissencephaly-Micromelia Syndrome	Abnormal circulating calcium-phosphate regulating hormone concentration, Failure to thrive, Respi...	ORPHA:50810
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Hepatic fibrosis, Failure to thrive, Exocrine pancreatic insufficiency, Hepatic steatosis, Dysmet...	OMIM:616263
Tetanus	Respiratory distress, Elevated circulating creatine kinase concentration, Hypertension, Tachypnea...	ORPHA:3299
Choanal Atresia	Respiratory distress, Cyanosis, Chronic sinusitis, Choking episodes, Recurrent respiratory infect...	ORPHA:137914
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Nodular regenerative hyperplasia of liver, Hepatic failure, Usual interstitial pneumonia, Increas...	OMIM:620367
Succinic Acidemia	Respiratory distress	OMIM:600335
Hypoglossia With Situs Inversus	Microglossia, Polysplenia, Respiratory distress, Asplenia, High palate	OMIM:612776
Telangiectasia, Hereditary Hemorrhagic, Type 1	Pulmonary hemorrhage, Gastrointestinal angiodysplasia, Nasal mucosa telangiectasia, High-output c...	OMIM:187300
Colchicine Poisoning	Hypotension, Cardiogenic shock, Hypomagnesemia, Respiratory distress, Congestive heart failure, L...	ORPHA:31824
Congenital Disorder Of Glycosylation, Type Iq	Optic atrophy, Coloboma, Elevated circulating hepatic transaminase concentration, Cataract	OMIM:612379
Facial Clefting, Oblique, 1	Coloboma, Cleft palate	OMIM:600251
Glycogen Storage Disease Ixb	Hypoglycemia, Splenomegaly, Hyperuricemia, Increased hepatic glycogen content, Hepatomegaly, Incr...	OMIM:261750
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Failure to thrive, ...	OMIM:124000
Idiopathic Copper-Associated Cirrhosis	Cirrhosis, Hepatic steatosis, Increased circulating copper concentration, Copper accumulation in ...	ORPHA:209919
D-Bifunctional Protein Deficiency	Fetal ascites, Elevated circulating hepatic transaminase concentration, Failure to thrive, Choles...	OMIM:261515
Bloom Syndrome	Facial telangiectasia in butterfly midface distribution, Recurrent upper respiratory tract infect...	OMIM:210900
Mercury Poisoning	Hypotension, Respiratory distress, Interstitial pneumonitis, Hypokalemia, Anorexia, Dyspnea, Tach...	ORPHA:330021
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Failure to thrive, Respiratory distress, Hypertrophic cardiomyopathy, Heart murmur, Respiratory t...	ORPHA:308552
Pancreatic Agenesis-Holoprosencephaly Syndrome	High palate, Absent gallbladder, Decreased circulating lipoprotein lipase concentration, Pancreat...	ORPHA:556955
Obesity-Hypoventilation Syndrome	Obesity, Cyanosis, Hypoventilation	OMIM:257500
Liver Failure, Infantile, Transient	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Acute hepatic failure, ...	OMIM:613070
Heterotaxy, Visceral, 1, X-Linked	Total anomalous pulmonary venous return, Failure to thrive, Abdominal situs inversus, Polysplenia...	OMIM:306955
Familial Multiple Lipomatosis	Insulin resistance, Hyperlipidemia, Chorioretinitis, Coloboma, Lipodystrophy, Functional intestin...	ORPHA:199276
Brown-Vialetto-Van Laere Syndrome 1	Tongue atrophy, Respiratory distress, Nocturnal hypoventilation, Gait imbalance, Ataxia, Dyspnea,...	OMIM:211530
Congenital Macroglossia	Abnormal hepatic glycogen storage, Macroglossia, Hypothyroidism	ORPHA:2430
Gracile Syndrome	Increased circulating ferritin concentration, Cholestasis, Hepatic steatosis, Cirrhosis, Elevated...	ORPHA:53693
Congenital Alveolar Capillary Dysplasia	Aortic valve stenosis, Annular pancreas, Volvulus, Duodenal stenosis, Respiratory distress, Intes...	ORPHA:210122
Corticosterone Methyloxidase Type Ii Deficiency	Increased circulating 18-hydroxycortisone level, Failure to thrive, Hyponatremia, Increased circu...	OMIM:610600
Ogden Syndrome	Facial wrinkling, Recurrent otitis media, Torsade de pointes, Hyperbilirubinemia, Pulmonary edema...	OMIM:300855
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Aplasia/Hypoplasia of the tongue, Respiratory distress, Polyhydramnios, Dyspnea, Recurrent respir...	ORPHA:2759
Familial Dysautonomia	Optic atrophy, Gastroesophageal reflux, Abnormal pleura morphology, Acrocyanosis, Hyponatremia, G...	ORPHA:1764
Arterial Tortuosity Syndrome	Gastroesophageal reflux, Dilated cardiomyopathy, Congestive heart failure, Respiratory distress, ...	ORPHA:3342
Japanese Encephalitis	Abnormal pattern of respiration, Respiratory distress, Anorexia, Elbow flexion contracture, Infec...	ORPHA:79139
Oculocerebrofacial Syndrome, Kaufman Type	High, narrow palate, Optic atrophy, Abnormal optic nerve morphology, Failure to thrive, Respirato...	ORPHA:2707
Tricuspid Atresia	Pulmonary artery atresia, Cyanosis	ORPHA:1209
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Elevated circulating hepatic transaminase concentration, Difficulty walking, Inability to walk, E...	OMIM:615356
Fanconi-Bickel Syndrome	Postprandial hyperglycemia, Hepatic failure, Glycosuria, Failure to thrive, Elevated circulating ...	ORPHA:2088
Aortic Arch Interruption	Aortic regurgitation, Congestive heart failure, Respiratory distress, Tricuspid regurgitation, Sh...	ORPHA:2299
Castleman Disease	Restrictive cardiomyopathy, Anasarca, Follicular hyperplasia, Intestinal obstruction, Anemia, Abn...	ORPHA:160
Diaphanospondylodysostosis	Pulmonary hypoplasia, Respiratory distress, Oligohydramnios, Increased nuchal translucency, Ingui...	OMIM:608022
Hutchinson-Gilford Progeria Syndrome	Aortic valve stenosis, Ankyloglossia, Mitral regurgitation, Severe failure to thrive, Weight loss...	ORPHA:740
Methemoglobinemia And Ambiguous Genitalia	Cyanosis, Methemoglobinemia, Elevated circulating luteinizing hormone level, Decreased circulatin...	OMIM:250790
Ramos-Arroyo Syndrome	Keratitis, Xerostomia, Smooth tongue, Respiratory distress, Choriocapillaris atrophy, Chorioretin...	ORPHA:1051
Thrombotic Thrombocytopenic Purpura, Hereditary	Microangiopathic hemolytic anemia, Respiratory distress, Elevated circulating creatinine concentr...	OMIM:274150
Enhanced S-Cone Syndrome	Cataract, Pigmentary retinopathy, Macular edema, Vitreoretinopathy, Retinoschisis, Edema	OMIM:268100
Mitochondrial Complex I Deficiency, Nuclear Type 37	Failure to thrive, Respiratory distress, Inguinal hernia, Pulmonary arterial hypertension, Bradyc...	OMIM:619272
Primary Dystonia, Dyt4 Type	Respiratory distress, Eunuchoid habitus, Gait disturbance, Dysphagia, Dysdiadochokinesis	ORPHA:98805
Monosomy 13Q34	Insulin resistance, Hematochezia, Epistaxis, Obesity, Hepatic steatosis, Hypercalcemia, Pulmonic ...	ORPHA:96168
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Cyanosis, Methemoglobinemia, Exertional dyspnea, Polycythemia	OMIM:250800
Igg4-Related Submandibular Gland Disease	Facial edema, Enlarged lacrimal glands, Xerostomia, Abnormal pancreas morphology, Abnormality of ...	ORPHA:449432
Dehydrated Hereditary Stomatocytosis	Neonatal hyperbilirubinemia, Anemia of inadequate production, Increased circulating hemoglobin co...	ORPHA:3202
Tarp Syndrome	Optic atrophy, Broad-based gait, Failure to thrive, Extramedullary hematopoiesis, Apnea, Cyanosis...	ORPHA:2886
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Failure to thrive, Atelectasis, Hepatocellular necrosis, Pulmonary fibrosis, Hepatosplenomegaly, ...	OMIM:618278
Laryngeal Abductor Paralysis	Dysphagia, Cyanosis	OMIM:150260
Good Syndrome	Thymoma, Mediastinal lymphadenopathy, Aplasia/Hypoplasia of the thymus, Abnormal leukocyte morpho...	ORPHA:169105
Biotinidase Deficiency	Optic atrophy, Eczematoid dermatitis, Respiratory distress, Apnea, Skin rash, Hyperammonemia, Let...	ORPHA:79241
Spinal muscular atrophy, type I, with congenital bone fractures	Respiratory distress, Generalized edema, High palate, Flexion contracture	OMIM:271225
Pancreas, Annular	Annular pancreas, High intestinal obstruction, Duodenal stenosis	OMIM:167750
Annular Pancreas	Annular pancreas, High intestinal obstruction, Duodenal stenosis	ORPHA:675
Cryofibrinogenemia, Familial Primary	Acrocyanosis	OMIM:123540
Heart Defects, Congenital, And Other Congenital Anomalies	Colon perforation, Microcolon, Pancreatic hypoplasia, Intestinal malrotation, Absent gallbladder,...	OMIM:600001
Mgat2-Cdg	Gastroesophageal reflux, Failure to thrive, Respiratory distress, Stereotypical hand wringing, Ar...	ORPHA:79329
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Gastroesophageal reflux, Hypopnea, Failure to thrive, Respiratory distress, Apnea, Cyanosis, Hypo...	OMIM:618426
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Erythema, Broad-based gait, Recurrent otitis media, Cholestasis, Hepatosplenomegaly, Cleft soft p...	OMIM:619503
Digeorge Syndrome	Acne, Recurrent otitis media, Hepatic steatosis, High palate, High, narrow palate, Cholelithiasis...	OMIM:188400
Meckel Syndrome 14	Hepatic fibrosis, Tricuspid regurgitation, Oligohydramnios, Increased nuchal translucency, Mitral...	OMIM:619879
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Optic atrophy, Intestinal malrotation, Cleft soft palate, Leukocytosis, Hepatic steatosis, Hypopl...	OMIM:619321
Meckel Syndrome	Accessory spleen, Optic atrophy, Microcornea, Cataract, Aplasia/Hypoplasia of the tongue, Furrowe...	ORPHA:564
Shwachman-Diamond Syndrome 1	Elevated circulating hepatic transaminase concentration, Failure to thrive, Persistence of hemogl...	OMIM:260400
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Bifid uvula, Respiratory distress, Congenital diaphragmatic hernia, Macrocytic anemia, Granulocyt...	OMIM:606164
Neuromuscular Oculoauditory Syndrome	Retinal pigment epithelial mottling, Respiratory distress, Knee flexion contracture, Elevated cir...	OMIM:618733
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Recurrent otitis media, Cyanosis, Severe failure to thrive, High palate, Pulmonic stenosis	ORPHA:3304
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Difficulty walking, Hyperglycinemia, Hepatomegaly, Jaundice, Bradykinesia, Esophageal varix, Poly...	ORPHA:309854
Congenital Disorder Of Glycosylation, Type Iiw	Type I diabetes mellitus, Elevated circulating hepatic transaminase concentration, Gastroesophage...	OMIM:619525
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Optic atrophy, Anteriorly placed anus, Umbilical hernia, Respiratory distress, Abnormality of the...	ORPHA:1555
Myotubular Myopathy With Abnormal Genital Development	Atelectasis, Respiratory distress, Neonatal death, Polyhydramnios, High palate	OMIM:300219
1P36 Deletion Syndrome	Abnormality of the spleen, Hepatic steatosis, Abnormal intestine morphology, Polyphagia, Telangie...	ORPHA:1606
Smith-Lemli-Opitz Syndrome	Recurrent otitis media, Hepatic steatosis, Cirrhosis, Hepatomegaly, Ventricular fibrillation, Pre...	OMIM:270400
Acute Generalized Exanthematous Pustulosis	Facial edema, Elevated circulating hepatic transaminase concentration, Cholestasis, Predominantly...	ORPHA:293173
Chitayat Syndrome	Respiratory distress, Abnormal pulmonary interstitial morphology, Recurrent respiratory infection...	OMIM:617180
Chiari Malformation Type Ii	Dysphagia, Cyanosis, Ataxia	OMIM:207950
Fructose Intolerance, Hereditary	Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Glycosuria,...	OMIM:229600
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Gastroesophageal reflux, Brain abscess, Congestive heart failure, Respiratory distress, Recurrent...	OMIM:616482
Glycogen Storage Disease Ixc	Elevated circulating hepatic transaminase concentration, Hypoglycemia, Splenomegaly, Increased he...	OMIM:613027
Bardet-Biedl Syndrome	Inflammation of the large intestine, Type II diabetes mellitus, Hepatic steatosis, Cone/cone-rod ...	ORPHA:110
Neurodegeneration And Seizures Due To Copper Transport Defect	Abnormal circulating copper concentration, Abnormal circulating ceruloplasmin concentration, Resp...	OMIM:620306
Blau Syndrome	Erythema, Xerostomia, Abnormal choroid morphology, Synovitis, Iridocyclitis, Abnormal retinal vas...	ORPHA:90340
Congenital Lobar Emphysema	Respiratory distress, Emphysema	ORPHA:1928
Severe Generalized Junctional Epidermolysis Bullosa	Pneumonia, Dyspnea, Dilated cardiomyopathy, Edema, Dehydration, Failure to thrive, Respiratory di...	ORPHA:79404
Agnathia-Otocephaly Complex	Microglossia, Respiratory distress, Aglossia, Polyhydramnios, Cleft palate, Pulmonary hypoplasia	OMIM:202650
Nasolacrimal Duct Cyst	Cellulitis, Intercostal retractions, Paroxysmal dyspnea, Episodic respiratory distress, Chronic i...	ORPHA:141083
Combined Oxidative Phosphorylation Deficiency 12	Failure to thrive, Cholestasis, Elevated circulating aspartate aminotransferase concentration, El...	OMIM:614924
Aicardi-Goutières Syndrome	Neonatal alloimmune thrombocytopenia, Elevated circulating hepatic transaminase concentration, Di...	ORPHA:51
Generalized Arterial Calcification Of Infancy	Adrenal calcification, Retinal hemorrhage, Pancreatic calcification, Choroidal neovascularization...	ORPHA:51608
Hyperoxaluria, Primary, Type I	Optic atrophy, Choroidal neovascularization, Atrioventricular block, Arterial occlusion, Retinal ...	OMIM:259900
Laryngomalacia	Respiratory distress	OMIM:150280
Joubert Syndrome 15	Coloboma, Retinopathy, Retinal dystrophy	OMIM:614464
Juvenile Polyposis Syndrome	Stomach cancer, Juvenile gastrointestinal polyposis, Multiple lipomas, Small intestinal polyposis...	ORPHA:2929
Hyperparathyroidism, Transient Neonatal	Hyperparathyroidism, Gastroesophageal reflux, Umbilical hernia, Respiratory distress, Splenic cys...	OMIM:618188
Chanarin-Dorfman Syndrome	Hepatomegaly, Hepatic steatosis, Ataxia	OMIM:275630
Diaphanospondylodysostosis	Respiratory distress, Cleft palate	ORPHA:66637
Synaptic Congenital Myasthenic Syndromes	Respiratory distress, Hypoventilation, Pulmonary arterial hypertension, Exertional dyspnea, Recur...	ORPHA:98915
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Respiratory distress, Retinal pigment epithelial mottling	OMIM:617102
Leukocyte Adhesion Deficiency	Lymphocytic interstitial pneumonia, Impaired neutrophil chemotaxis, Acute myeloid leukemia, Glome...	ORPHA:2968
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Failure to thrive, Hypoglycemia, Anteriorly placed anus, Hypertrophic cardiomyopathy, Hyperglycem...	OMIM:220111
Odontochondrodysplasia 1	Respiratory distress, Dentinogenesis imperfecta, Recurrent respiratory infections, Pulmonary hypo...	OMIM:184260
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Anomalous origin of right pulmonary artery from ascending aorta, Failure to thrive, Congestive he...	ORPHA:99050
Cardiac Valvular Dysplasia 2	Aortic regurgitation, Pulmonary artery dilatation, Tricuspid regurgitation, Palpitations, Central...	OMIM:620067
Nestor-Guillermo Progeria Syndrome	Lipoatrophy, Sinus tachycardia, Progeroid facial appearance, Failure to thrive, Mitral regurgitat...	OMIM:614008
Pitt-Hopkins Syndrome	Self-injurious behavior, Gastroesophageal reflux, Failure to thrive, Abnormal pattern of respirat...	ORPHA:2896
Congenital Disorder Of Deglycosylation 1	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Restlessness, Oral-pha...	OMIM:615273
Joubert Syndrome 16	Coloboma, Retinal dystrophy	OMIM:614465
Wiedemann-Rautenstrauch Syndrome	Increased circulating prolactin concentration, Recurrent otitis media, Prominent scalp veins, Inc...	ORPHA:3455
Kasabach-Merritt Phenomenon	Hypopnea, Microangiopathic hemolytic anemia, Respiratory distress, Leukopenia, Reticulocytosis, P...	ORPHA:2330
Ciliary Dyskinesia, Primary, 2	Respiratory distress, Otitis media, Sinusitis, Recurrent respiratory infections, Bronchiectasis	OMIM:606763
Tropical Pancreatitis	Pancreatic adenocarcinoma, Chronic calcifying pancreatitis, Pancreatic calcification, Jaundice, A...	ORPHA:103918
Microphthalmia With Linear Skin Defects Syndrome	Erythema, Dilated cardiomyopathy, Failure to thrive, Respiratory distress, Abnormal rectum morpho...	ORPHA:2556
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Hepatic failure, Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis,...	OMIM:203700
Oculopharyngodistal Myopathy 1	Dilated cardiomyopathy, Respiratory distress, Difficulty walking, Hypertrophic cardiomyopathy, Pa...	OMIM:164310
Scimitar Syndrome	Pulmonary artery hypoplasia, Bronchogenic cyst, Congestive heart failure, Respiratory distress, H...	ORPHA:185
Developmental And Epileptic Encephalopathy 68	Respiratory distress, Flexion contracture, Failure to thrive	OMIM:618201
Odontochondrodysplasia	Respiratory distress, Dentinogenesis imperfecta	ORPHA:166272
Infantile Krabbe Disease	Optic atrophy, Gastroesophageal reflux, Failure to thrive, Cherry red spot of the macula, Respira...	ORPHA:206436
Aceruloplasminemia	Macular degeneration, Abnormal pancreas morphology, Abnormal circulating enzyme concentration or ...	ORPHA:48818
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Respiratory distress, Cyclopia, Microglossia, Polyhydramnios	ORPHA:990
Prader-Willi Syndrome Due To Translocation	Abnormal temper tantrums, Bifid uvula, Head-banging, Recurrent respiratory infections, Respirator...	ORPHA:177907
Keppen-Lubinsky Syndrome	Recurrent pneumonia, Progeroid facial appearance, Failure to thrive, Generalized lipodystrophy, A...	OMIM:614098
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Respiratory distress, Omphalocele, Pulmonary hypoplasia	OMIM:617895
Primary Hyperoxaluria	Optic atrophy, Choroidal neovascularization, Elevated circulating hepatic transaminase concentrat...	ORPHA:416
Oromandibular Dystonia	Respiratory distress, Bruxism, Weight loss, Dysphagia	ORPHA:93958
Acrocephalopolydactylous Dysplasia	Hepatic fibrosis, Polysplenia, Ascites, Hypoplastic colon, Pancreatic fibrosis, Hepatomegaly, Hyp...	OMIM:200995
Tako-Tsubo Cardiomyopathy	Abnormal circulating B-type natriuretic peptide concentration, Mitral regurgitation, Pulmonary ed...	ORPHA:66529
Pearson Marrow-Pancreas Syndrome	Hepatic failure, Elevated circulating hepatic transaminase concentration, Exocrine pancreatic ins...	OMIM:557000
Woodhouse-Sakati Syndrome	Decreased serum estradiol, Insulin-resistant diabetes mellitus, Abnormal T-wave, Decreased respon...	ORPHA:3464
Episodic Ataxia Type 1	Respiratory distress, Tip-toe gait, Choreoathetosis	ORPHA:37612
Adnp Syndrome	Abnormal temper tantrums, Recurrent upper respiratory tract infections, Gastroesophageal reflux, ...	ORPHA:404448
Tropical Endomyocardial Fibrosis	Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur...	ORPHA:75565
Peripheral Motor Neuropathy-Dysautonomia Syndrome	Acrocyanosis, Achalasia	ORPHA:2400
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Recurrent pneumonia, Aspiration pneumonia, Respiratory distress, Apnea, Hypoventilation, High palate	ORPHA:314655
Chronic Thromboembolic Pulmonary Hypertension	Inflammation of the large intestine, Increased HDL cholesterol concentration, Right ventricular f...	ORPHA:70591
Glycogen Storage Disease Ib	Inflammation of the large intestine, Elevated circulating hepatic transaminase concentration, Red...	OMIM:232220
Myasthenic Syndrome, Congenital, 21, Presynaptic	Difficulty walking, Apnea, Cyanosis, Knee flexion contracture, Meconium ileus	OMIM:617239
Hereditary Bullous Dystrophy, Macular Type	Pneumonia, Heart murmur, Acrocyanosis	ORPHA:1867
Spondyloepiphyseal Dysplasia Congenita	Bifid uvula, Vitreoretinopathy, Respiratory distress, Retinal detachment, Cleft palate, Waddling ...	OMIM:183900
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Pneumonia, Atypical scarring of skin, Inflammatory abnormality of the skin, Keratitis, Elevated c...	ORPHA:95455
Alfadhel Syndrome	Aggressive behavior, Nasal flaring	OMIM:620655
Truncus Arteriosus	Aortic regurgitation, Pulmonary artery hypoplasia, Pulmonary artery atresia, Abnormal lung lobati...	ORPHA:3384
Heterotaxy, Visceral, 7, Autosomal	Pulmonary artery hypoplasia, Total anomalous pulmonary venous return, Polysplenia, Intestinal mal...	OMIM:616749
Rubinstein-Taybi Syndrome 1	Leukemia, High palate, Unsteady gait, High, narrow palate, Gastroesophageal reflux, Keloids, Hype...	OMIM:180849
Bone Marrow Failure Syndrome 3	Bone marrow hypocellularity, Pancreatic steatosis, Exocrine pancreatic insufficiency, Cryptorchid...	OMIM:617052
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Respiratory distress, Pulmonary hypoplasia, Polyhydramnios, Stillbirth	OMIM:151210
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Dentinogenesis imperfecta, Bruising susceptibility, Atelectasis, Respiratory distress, Atrophic s...	ORPHA:536467
Mandibuloacral Dysplasia Progeroid Syndrome	Elevated circulating hepatic transaminase concentration, Progeroid facial appearance, Tricuspid r...	OMIM:619127
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Optic atrophy, Cardiomyopathy, Congestive heart failure, Limb ataxia, Gait ataxia, Increased hepa...	OMIM:619259
Waardenburg Syndrome Type 3	Acrocyanosis, Atelectasis, Camptodactyly of finger	ORPHA:896
Pierson Syndrome	Cataract, Retinal vascular tortuosity, Hypopigmentation of the fundus, Hypoplasia of the iris, Ri...	OMIM:609049
Atelosteogenesis Type I	Polyhydramnios, Retinal dysplasia, Malrotation of colon, Cleft palate, Abnormal pancreatic duct m...	ORPHA:1190
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Optic atrophy, Cataract, Peters anomaly, Megalocornea, Cryptorchidism, Retinal atrophy, Coloboma,...	OMIM:236670
Chromosome 6Q24-Q25 Deletion Syndrome	High, narrow palate, Anteriorly placed anus, Respiratory distress, Tricuspid regurgitation, Submu...	OMIM:612863
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Anteriorly placed anus, Cardiomyopathy, Respiratory distress, Hernia, Cleft palate	OMIM:217980
Combined Oxidative Phosphorylation Deficiency 27	Hyperammonemia, Failure to thrive, Microvesicular hepatic steatosis	OMIM:616672
Structural Heart Defects And Renal Anomalies Syndrome	Generalized edema, Elevated circulating creatinine concentration, Cyanosis, Partial anomalous pul...	OMIM:617478
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Elbow flexion contracture, Large for gestational age, Polyhydramnios, Hip contracture, Microvesic...	OMIM:300868
Beare-Stevenson Cutis Gyrata Syndrome	Optic atrophy, Bifid uvula, Narrow palate, Anteriorly placed anus, Respiratory distress, Palmopla...	OMIM:123790
Cardiac Valvular Dysplasia 1	Valvular pulmonary stenosis, Tricuspid regurgitation, Mitral regurgitation, Mitral stenosis, Cyan...	OMIM:212093
Biliary, Renal, Neurologic, And Skeletal Syndrome	Cholestasis, Hyperbilirubinemia, Congenital hepatic fibrosis, Neonatal death, Cirrhosis, Elevated...	OMIM:619534
Inhalational Anthrax	Respiratory distress, Hypotension, Dyspnea, Internal hemorrhage	ORPHA:247257
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Iris transillumination defect, Cataract, Microcornea, Coloboma	OMIM:617306
Igg4-Related Thyroid Disease	Euthyroid goiter, Goiter, Sialadenitis, Sclerosing cholangitis, Pancreatic fibrosis, Abnormal pit...	ORPHA:64744
Diamond-Blackfan Anemia 10	Morgagni diaphragmatic hernia, Respiratory distress, Congenital diaphragmatic hernia, Macrocytic ...	OMIM:613309
Aromatase Deficiency	Insulin resistance, Obesity, Type II diabetes mellitus, Hyperlipidemia, Hepatic steatosis, Eunuch...	ORPHA:91
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Retinal thinning, Ectopia pupillae, Abnormality of retinal pigmentation, Cone/cone-rod dystrophy,...	ORPHA:85167
Feingold Syndrome	Esophageal atresia, Abnormality of the spleen, Annular pancreas, Duodenal atresia	ORPHA:1305
8Q24.3 Microdeletion Syndrome	Ectopic posterior pituitary, Gastrointestinal hemorrhage, Gastroesophageal reflux, Retinal colobo...	ORPHA:508488
Mitochondrial Phosphate Carrier Deficiency	Hypertrophic cardiomyopathy, Cyanosis	OMIM:610773
Goodpasture Syndrome	Reticular pattern on pulmonary HRCT, Pulmonary hemorrhage, Nodular pattern on pulmonary HRCT, Cya...	OMIM:233450
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Bifid uvula, Recurrent respiratory infections, Respiratory distress, Abnormality of thyroid physi...	OMIM:300968
Congenitally Corrected Transposition Of The Great Arteries	Arrhythmia, Heart block, Aortic regurgitation, Third degree atrioventricular block, Tricuspid reg...	ORPHA:216694
Osteogenesis Imperfecta, Type X	Dentinogenesis imperfecta, Recurrent pneumonia, Respiratory distress, Inguinal hernia, Pyloric st...	OMIM:613848
Classical Ehlers-Danlos Syndrome	Poor wound healing, Mitral regurgitation, Fragile skin, Rectal prolapse, Gastroesophageal reflux,...	ORPHA:287
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Gastroesophageal reflux, Elevated circulating creatinine concentration, Recurrent infections due ...	OMIM:223900
Telangiectasia, Hereditary Hemorrhagic, Type 4	Right-to-left shunt, Tongue telangiectasia, Transient ischemic attack, Ischemic stroke, Nasal muc...	OMIM:610655
Arboleda-Tham Syndrome	Optic atrophy, Gastroesophageal reflux, Recurrent respiratory infections, Respiratory distress, R...	OMIM:616268
Schinzel-Giedion Syndrome	Recurrent pneumonia, Central hypothyroidism, Annular pancreas, Anteriorly placed anus, Umbilical ...	ORPHA:798
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Respiratory distress, Broad-based gait, High palate, Ataxia	ORPHA:438216
Congenital Laryngeal Web	Respiratory distress	ORPHA:2374
Pachyonychia Congenita	Respiratory distress, Angular cheilitis, Oral leukoplakia, Failure to thrive	ORPHA:2309
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Hepatic fibrosis, Retinal degeneration, Bile duct proliferation, Pancreatic fibrosis, Jaundice, P...	OMIM:208500
Jacobsen Syndrome	Optic atrophy, Microcornea, Annular pancreas, Chorioretinal coloboma, Cryptorchidism, Macular hyp...	OMIM:147791
Bohring-Opitz Syndrome	Optic atrophy, Cholelithiasis, Annular pancreas, Congenital contracture, Inability to walk, Apnea...	ORPHA:97297
Unilateral Polymicrogyria	Epistaxis, Pseudobulbar paralysis, Apnea, Cyanosis, Pulmonary arteriovenous malformation	ORPHA:268943
Double Outlet Left Ventricle	Failure to thrive, Cyanosis, Abnormal right ventricular function, Pulmonary artery stenosis, Tach...	ORPHA:3427
Pfeiffer Syndrome Type 2	Respiratory distress, Intestinal malrotation, High palate, Anal atresia, Cleft palate	ORPHA:93259
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Respiratory distress, Congenital hypothyroidism, Pulmonary arterial hypertension	ORPHA:2519
Achondroplasia	Respiratory distress, Recurrent otitis media, Polyhydramnios, Pulmonary hypoplasia	OMIM:100800
Pfeiffer Syndrome Type 3	Respiratory distress, Intestinal malrotation, High palate, Anal atresia, Cleft palate	ORPHA:93260
Solitary Median Maxillary Central Incisor	Decreased response to growth hormone stimulation test, Cyclopia, Coloboma, Anterior hypopituitarism	OMIM:147250
Shwachman-Diamond Syndrome 2	Exocrine pancreatic insufficiency, Hyperechogenic pancreas, Hepatomegaly, High palate, Steatorrhea	OMIM:617941
Mandibulofacial Dysostosis, Guion-Almeida Type	Respiratory distress, Esophageal atresia, Cleft palate	OMIM:610536
Congenital Total Pulmonary Venous Return Anomaly	Mixed total anomalous pulmonary venous connection, Right ventricular failure, Paroxysmal dyspnea,...	ORPHA:99125
Cleft Larynx, Posterior	Cyanosis	OMIM:215800
Meier-Gorlin Syndrome 1	Joint contracture of the hand, Gastroesophageal reflux, Failure to thrive, Respiratory distress, ...	OMIM:224690
Criss-Cross Heart	Supravalvular aortic stenosis, Cyanosis, Mitral stenosis, Tricuspid stenosis, Pulmonic stenosis	ORPHA:1461
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Hepatic fibrosis, Microglossia, Hamartoma of tongue, Intestinal malrotation, Pancreatic fibrosis,...	OMIM:263520
Garg-Mishra Progeroid Syndrome	Microvesicular hepatic steatosis	OMIM:620601
Intellectual Developmental Disorder, Autosomal Dominant 68	Gastroesophageal reflux, Joint contracture of the 5th finger, Hepatic steatosis, Attention defici...	OMIM:619934
Auriculocondylar Syndrome	Bifid uvula, Microglossia, Respiratory distress, Hamartoma of tongue, Glossoptosis, Cleft palate	ORPHA:137888
Stüve-Wiedemann Syndrome	Smooth tongue, Camptodactyly of finger, Respiratory distress, Elbow flexion contracture, Apnea, O...	ORPHA:3206
Homozygous Familial Hypercholesterolemia	Increased LDL cholesterol concentration, Hyperlipidemia, Hepatic steatosis, Mitral regurgitation,...	ORPHA:391665
Singleton-Merten Syndrome 1	Aortic valve stenosis, Congestive heart failure, Pleural effusion, Decreased body weight, Recurre...	OMIM:182250
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Polyhydramnios, Pancreatic fibrosis	OMIM:615503
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Aortic valve stenosis, Motor stereotypy, Self-injurious behavior, Gastroesophageal reflux, Keloid...	ORPHA:353281
Microphthalmia, Syndromic 3	Cataract, Optic nerve aplasia, Cryptorchidism, Coloboma, Esophageal atresia, Anterior pituitary h...	OMIM:206900
Beckwith-Wiedemann Syndrome	Pancreatic hyperplasia, Cryptorchidism, Hepatoblastoma, Hepatomegaly, Macroglossia	OMIM:130650
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Cataract, Microcornea, Ectopia pupillae, Coloboma, Sclerocornea	OMIM:615877
Thauvin-Robinet-Faivre Syndrome	Retinal coloboma, Large for gestational age, Transient neutropenia, Inguinal hernia, Coloboma, Ma...	OMIM:617107
Rodrigues Blindness	Nasal flaring, Ectodermal dysplasia	OMIM:268320
Hypermobile Ehlers-Danlos Syndrome	High, narrow palate, Epistaxis, Atypical scarring of skin, Gastroesophageal reflux, Bruising susc...	ORPHA:285
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Self-injurious behavior, Gastroesophageal reflux, Obesity, Aggressive behavior, Attention deficit...	ORPHA:466943
Campomelic Dysplasia	Recurrent upper respiratory tract infections, Failure to thrive, Respiratory distress, Contractur...	OMIM:114290
Yellow Fever	Pancreatic hyperplasia, Elevated circulating aspartate aminotransferase concentration, Elevated c...	ORPHA:99829
Ear-Patella-Short Stature Syndrome	High, narrow palate, Bifid uvula, Failure to thrive, Camptodactyly of finger, Respiratory distres...	ORPHA:2554
Feingold Syndrome 1	Accessory spleen, Annular pancreas, Polysplenia, Jejunal atresia, Tracheoesophageal fistula, Esop...	OMIM:164280
Charge Syndrome	Lymphopenia, Hypoparathyroidism, Anal atresia, Dysphagia, Iris coloboma, Duodenal atresia, Parath...	OMIM:214800
Doors Syndrome	Optic atrophy, Narrow palate, Gastroesophageal reflux, Aspiration pneumonia, Respiratory distress...	ORPHA:79500
Osteoglophonic Dysplasia	Failure to thrive, Camptodactyly of finger, Respiratory distress, Inguinal hernia, High palate	OMIM:166250
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Eczematoid dermatitis, Periorbital wrinkles, Respiratory distress, Rhinitis, Hypohidrotic ectoder...	OMIM:305100
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Respiratory distress, Polyhydramnios, Splenomegaly, Aplasia of the epiglottis, Hepatomegaly	OMIM:617088
Proximal Renal Tubular Acidosis	Polydipsia, Glycosuria, Failure to thrive, Enamel hypomineralization, Hypokalemia, Hypovolemia, C...	ORPHA:47159
Beckwith-Wiedemann Syndrome	Abnormal pancreas morphology, Exocrine pancreatic insufficiency, Cryptorchidism, Pseudohypoparath...	ORPHA:116
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Cardiomyopathy, Respiratory distress, Difficulty walking, High palate, Delayed puberty, Abnormal ...	ORPHA:480880
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Optic atrophy, Cataract, Megalocornea, Hypoplasia of the retina, Retinal degeneration, Retinal at...	OMIM:253280
Coffin-Lowry Syndrome	Cutis marmorata, Mitral regurgitation, Inguinal hernia, Uterine prolapse, Decreased body weight, ...	OMIM:303600
Cleidocranial Dysplasia 1	High, narrow palate, Respiratory distress, Enamel hypoplasia, High palate, Narrow palate, Cleft p...	OMIM:119600
Bosma Arhinia Microphthalmia Syndrome	Cataract, Cryptorchidism, Coloboma, High palate, Cleft palate	OMIM:603457
Ulbright-Hodes Syndrome	Respiratory distress, Oligohydramnios, Pneumothorax, Maternal diabetes, High palate, Pulmonary hy...	ORPHA:3404
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Hypoalbuminemia, Erythema, Respiratory distress, Fragile skin, Abnormal pulmonary interstitial mo...	OMIM:614748
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Recurrent pneumonia, Acute myelomonocytic leukemia, Failure to thrive, Respiratory distress, Mult...	ORPHA:99646
Roberts-Sc Phocomelia Syndrome	Accessory spleen, Cataract, Stillbirth, Cryptorchidism, Biliary tract abnormality, Coloboma, Corn...	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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