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Gene: Hhip MGI:1341847

Gene Summary

Name:

Hedgehog-interacting protein

Synonyms:

Hhip1, Hip1, Hip

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.

Phenotype	System	Allele	Zyg	Sex	Life Stage	P Value
decreased mean corpuscular hemoglobin concentration		Hhip^tm1Icmb	HET		Early adult	1.21×10^-05

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lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Hhip 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 Hhip (0 diseases)
Human diseases predicted to be associated with Hhip (552 diseases)

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

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

Disease	Matching phenotypes	Source
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Atr-16 syndrome	Abnormal erythrocyte morphology	DECIPHER:65
Diamond-Blackfan Anemia-Like	Steroid-responsive anemia, Pure red cell aplasia	OMIM:617911
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Hemoglobin E-Beta-Thalassemia Syndrome	Abnormal hemoglobin, Anemia	ORPHA:231249
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Diamond-Blackfan Anemia 19	Erythroid hypoplasia, Steroid-responsive anemia, Anemia	OMIM:618312
Delta-Beta-Thalassemia	Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231237
Transient Erythroblastopenia Of Childhood	Transient erythroblastopenia, Anemia	OMIM:227050
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Hemoglobin H Disease	Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu...	OMIM:603902
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Anemia, Sideroblastic, 4	Abnormal erythrocyte morphology, Sideroblastic anemia	OMIM:182170
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia	ORPHA:231393
Heinz Body Anemias	Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia	OMIM:140700
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Asbestos Intoxication	Reduced forced vital capacity, Nonproductive cough, Diffuse reticular or finely nodular infiltrat...	ORPHA:2302
Bronchopulmonary Dysplasia	Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Atelecta...	ORPHA:70589
Immunodeficiency 95	Respiratory distress, Recurrent respiratory infections, Lymphopenia, Ground-glass opacification, ...	OMIM:619773
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Splenomegaly, Anemia	ORPHA:46532
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Respiratory distress, Decreased response to growth hormone stimulation test, Crackles, Elevated c...	OMIM:610978
Bronchogenic Cyst	Abnormal peritoneum morphology, Abnormal pulmonary thoracic imaging finding, Pulmonary cyst, Pneu...	ORPHA:2357
Alpha-1-Antitrypsin Deficiency	Hepatocellular carcinoma, Cough, Splenomegaly, Panacinar emphysema, Dyspnea, Chronic pulmonary ob...	OMIM:613490
Ciliary Dyskinesia, Primary, 21	Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ...	OMIM:615294
Acute Interstitial Pneumonia	Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Ground-glass opac...	ORPHA:79126
Mucus Inspissation Of Respiratory Tract	Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr...	OMIM:253240
Ciliary Dyskinesia, Primary, 29	Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili...	OMIM:615872
Spinal Muscular Atrophy, Type I	Recurrent respiratory infections, Respiratory failure, Respiratory insufficiency, Death in childhood	OMIM:253300
Primary Ciliary Dyskinesia	Recurrent sinopulmonary infections, Neonatal respiratory distress, Peribronchovascular interstiti...	ORPHA:244
Recurrent Respiratory Papillomatosis	Respiratory distress, Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract in...	ORPHA:60032
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas...	OMIM:619466
Cyanosis, Transient Neonatal	Reticulocytosis, Methemoglobinemia, Anemia	OMIM:613977
Idiopathic Chronic Eosinophilic Pneumonia	Abnormality of the gastrointestinal tract, Abnormal pulmonary thoracic imaging finding, Crackles,...	ORPHA:2902
Woronets Trait	Red blood cell keratocytosis	OMIM:194320
Renal Hypodysplasia/Aplasia 4	Respiratory failure, Pulmonary hypoplasia	OMIM:619887
Nphp3-Related Meckel-Like Syndrome	Intestinal malrotation, Abnormality of the pancreas, Abnormal liver parenchyma morphology, Pulmon...	ORPHA:3032
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ...	OMIM:610921
Butyrylcholinesterase Deficiency	Respiratory failure requiring assisted ventilation, Abnormality of the liver, Respiratory failure	ORPHA:132
Ciliary Dyskinesia, Primary, 33	Atelectasis, Recurrent pneumonia, Bronchiectasis, Ciliary dyskinesia, Chronic rhinitis, Cough, Re...	OMIM:616726
Immunodeficiency 54	Recurrent respiratory infections, Hepatomegaly, Splenomegaly, Respiratory insufficiency, Adrenoco...	OMIM:609981
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
Acute Lung Injury	Respiratory distress, Acute pancreatitis, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea, Tachyp...	ORPHA:178320
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Nodular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Ground-glass opacif...	ORPHA:99931
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Hepatomegaly, Crackles, Ground-glass opacification, Atelectasis, Dyspnea, Asthma, Wheezing, Abnor...	OMIM:620233
Respiratory Distress Syndrome In Premature Infants	Respiratory distress, Neonatal respiratory distress, Atelectasis, Dyspnea, Tachypnea, Pulmonary e...	OMIM:267450
Tracheobronchopathia Osteochondroplastica	Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,...	ORPHA:3348
Meconium Aspiration Syndrome	Respiratory distress, Abnormal pulmonary thoracic imaging finding, Maternal diabetes, Atelectasis...	ORPHA:70588
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Atelectasis, Chronic sinusitis, Recurrent bronchitis	OMIM:300455
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Abnormal hemoglobin, Anemia	ORPHA:3319
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production	OMIM:603529
Adult Acute Respiratory Distress Syndrome	Pneumonia, Dyspnea, Pulmonary infiltrates, Hypoxemia, Diabetic ketoacidosis, Respiratory failure,...	ORPHA:70578
Hyperinsulinemic Hypoglycemia, Familial, 2	Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia	OMIM:601820
Anemia, Nonspherocytic Hemolytic, Associated With Abnormality Of Red Cell Membrane	Nonspherocytic hemolytic anemia	OMIM:206300
Adenosine Triphosphatase Deficiency, Anemia Due To	Nonspherocytic hemolytic anemia	OMIM:102800
Hemolytic Anemia With Thermal Sensitivity Of Red Cells	Congenital hemolytic anemia	OMIM:235370
Hemoglobin--Variants For Which The Chain Carrying The Mutation Is Unknown Or Uncertain	Compensated hemolytic anemia	OMIM:142309
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Respiratory insufficiency due to muscle weakness, Hepatosplenomegaly, Respiratory failure, Dyspha...	ORPHA:2590
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Hepatomegaly, Splenomegaly, Recurrent upper respiratory tract infections, Restrictive ventilatory...	OMIM:620296
Adenylate Kinase Deficiency, Hemolytic Anemia Due To	Hemolytic anemia	OMIM:612631
6-Phosphogluconolactonase Deficiency	Hemolytic anemia	OMIM:172150
Surfactant Metabolism Dysfunction, Pulmonary, 1	Death in infancy, Neonatal respiratory distress, Apnea, Ground-glass opacification, Dyspnea, Desq...	OMIM:265120
Pneumocystosis	Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Abnormal neutrophil...	ORPHA:723
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Respiratory failure requiring assisted ventilation, Dyspnea, Dysphagia, Respiratory failure, Aspi...	ORPHA:90117
Adenosine Triphosphate, Elevated, Of Erythrocytes	Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia	OMIM:102900
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect...	OMIM:610913
Staphylococcal Necrotizing Pneumonia	Respiratory distress, Diabetes mellitus, Neutrophilia, Pneumonia, Cough, Nonproductive cough, Dys...	ORPHA:36238
Ciliary Dyskinesia, Primary, 1	Communicating hydrocephalus, Pneumonia, Asplenia, Atelectasis, Situs inversus totalis, Bronchiect...	OMIM:244400
Sarcoidosis, Susceptibility To, 2	Hepatomegaly, Splenomegaly, Dyspnea, Pneumothorax, Mediastinal lymphadenopathy, Bronchiectasis, A...	OMIM:612387
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Infant Acute Respiratory Distress Syndrome	Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemia, Respira...	ORPHA:70587
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia	ORPHA:846
Interstitial Pneumonitis, Desquamative, Familial	Respiratory distress, Type II pneumocyte hypertrophy, Desquamative interstitial pneumonitis, Recu...	OMIM:263000
Familial Nasal Acilia	Respiratory distress, Atelectasis, Dyspnea, Recurrent upper respiratory tract infections, Bronchi...	ORPHA:922
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Ground-glass opacification, Respiratory tract infection, Hypersensitivity pneumonitis, Nonproduct...	ORPHA:79127
Avian Influenza	Respiratory distress, Miscarriage, Pneumonia, Ground-glass opacification, Productive cough, Nonpr...	ORPHA:454836
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Recurrent respiratory infections, Death in infancy, Splenomegaly, Leukocytosis, Intraalveolar pho...	OMIM:618042
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A	Reduced vital capacity, Abnormal respiratory system physiology, Respiratory insufficiency, Reduce...	ORPHA:266
Krabbe Disease, Atypical, Due To Saposin A Deficiency	Central apnea, Death in infancy, Respiratory failure, Respiratory insufficiency	OMIM:611722
Myotubular Myopathy With Abnormal Genital Development	Respiratory distress, Death in infancy, Unilateral cryptorchidism, Bilateral cryptorchidism, Atel...	OMIM:300219
Niemann-Pick Disease, Type C2	Hepatomegaly, Neonatal respiratory distress, Death in infancy, Bone-marrow foam cells, Splenomega...	OMIM:607625
Deafness-Lymphedema-Leukemia Syndrome	Recurrent respiratory infections, Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocyt...	ORPHA:3226
Combined Oxidative Phosphorylation Deficiency 52	Death in infancy, Respiratory failure, Adrenal insufficiency, Hepatic steatosis, Pancreatitis	OMIM:619386
Ciliary Dyskinesia, Primary, 5	Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Recurren...	OMIM:608647
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset	Respiratory insufficiency due to muscle weakness, Respiratory failure, Death in adolescence	OMIM:300717
C1Q Deficiency 2	Atelectasis, Recurrent lower respiratory tract infections, Bronchiectasis, Anemia	OMIM:620321
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Atelectasis, Pulmonary fibrosis, Dysphagia, Bronchiolitis, Exertional dyspnea	ORPHA:254361
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Pulmonary Hypoplasia, Primary	Neonatal death, Pulmonary hypoplasia	OMIM:265430
Combined Oxidative Phosphorylation Deficiency 51	Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia	OMIM:619057
Scedosporiosis	Bronchial breath sound, Diabetes mellitus, Sinusitis, Pneumonia, Bronchitis, Abnormal respiratory...	ORPHA:449280
Matthew-Wood Syndrome	Cryptorchidism, Abnormal lung morphology, Aplasia/Hypoplasia of the pancreas, Duodenal stenosis, ...	ORPHA:2470
Pontocerebellar Hypoplasia, Type 1C	Respiratory failure, Respiratory insufficiency, Death in childhood	OMIM:616081
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Recurrent respiratory infections, Hepatomegaly, Hemolytic anemia, Reticulocytosis, Anisocytosis, ...	OMIM:618278
Duodenal Atresia	Abnormality of the pancreas, Annular pancreas, Abnormality of the pulmonary artery, Duodenal atresia	ORPHA:1203
Congenital Arthrogryposis With Anterior Horn Cell Disease	Respiratory insufficiency due to muscle weakness, Cryptorchidism, Respiratory failure, High palat...	OMIM:611890
Congenital Myopathy 10A, Severe Variant	Respiratory distress, Cleft palate, Respiratory insufficiency, Restrictive ventilatory defect, Re...	OMIM:614399
Hepatic Veno-Occlusive Disease	Hepatomegaly, Jaundice, Respiratory failure	ORPHA:890
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B	Neonatal death, Apnea, Pulmonary hypoplasia	OMIM:615228
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp...	ORPHA:254875
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Neonatal respiratory distress, Pulmonary hypoplasia, Respiratory failure, Dysphagia	OMIM:616867
Idiopathic Bronchiectasis	Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Bronchiect...	ORPHA:60033
Cutis Laxa, Autosomal Recessive, Type Ic	Accessory spleen, Death in infancy, Adrenal hypoplasia, Atelectasis, Rectal prolapse, Recurrent p...	OMIM:613177
Granulomatous Disease, Chronic, X-Linked	Hepatomegaly, Liver abscess, Atelectasis, Splenomegaly, Recurrent pneumonia, Lymphadenitis, Air b...	OMIM:306400
Zygomycosis	Sinusitis, Acute infectious pneumonia, Air crescent sign, Unusual gastrointestinal infection, Col...	ORPHA:73263
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Pancreatic fibrosis, Intestinal malrotation, Portal hypertension, Malformation of t...	OMIM:208540
Short-Rib Thoracic Dysplasia 12	Hepatomegaly, Intestinal malrotation, Hamartoma of tongue, Splenomegaly, Atelectasis, Hydrocephal...	OMIM:269860
Emphysema, Hereditary Pulmonary	Emphysema, Chronic pulmonary obstruction, Chronic bronchitis	OMIM:130700
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related	Death in infancy, Respiratory failure, Apnea, Respiratory insufficiency	OMIM:613869
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive	Macrocytic anemia, Macrocytic dyserythropoietic anemia	OMIM:619789
Pulmonary Alveolar Microlithiasis	Bronchitis, Nonproductive cough, Tachypnea, Oxygen desaturation on exertion, Hepatomegaly, Respir...	ORPHA:60025
Developmental And Epileptic Encephalopathy 71	Respiratory failure, Cheyne-Stokes respiration, Respiratory insufficiency	OMIM:618328
Nemaline Myopathy 8	Death in infancy, Respiratory failure, Dysphagia	OMIM:615348
Glycine Encephalopathy 2	Respiratory failure	OMIM:620398
Microphthalmia, Syndromic 12	Intestinal malrotation, Cryptorchidism, Cleft palate, Pulmonary hypoplasia, Neonatal death	OMIM:615524
Alpha-1-Antitrypsin Deficiency	Hepatomegaly, Emphysema, Hepatitis, Jaundice	ORPHA:60
Chronic Beryllium Disease	Lymphocytic interstitial pneumonia, Ground-glass opacification, Hypersensitivity pneumonitis, Dys...	ORPHA:133
Birt-Hogg-Dubé Syndrome	Pneumothorax, Pulmonary sequestration, Parathyroid adenoma, Emphysema, Medullary thyroid carcinoma	ORPHA:122
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis	Hemolytic anemia, Elliptocytosis, Anemia of inadequate production	OMIM:166910
Farber Disease	Respiratory distress, Intrahepatic cholestasis with episodic jaundice, Nodular pattern on pulmona...	ORPHA:333
Dubin-Johnson Syndrome	Hepatomegaly, Abnormal gastric mucosa morphology, Jaundice, Biliary tract abnormality, Abnormalit...	ORPHA:234
Pancreatitis, Hereditary	Diabetes mellitus, Pancreatic calcification, Pancreatic pseudocyst, Steatorrhea, Pleural effusion...	OMIM:167800
Lethal Osteosclerotic Bone Dysplasia	Respiratory distress, Dyspnea, Respiratory failure, Median cleft lip and palate	ORPHA:1832
Congenital Myopathy 21 With Early Respiratory Failure	Nocturnal hypoventilation, Dyspnea, Respiratory failure, Lipoid pneumonia	OMIM:620326
Congenital Myopathy 14	Death in infancy, Apnea, Respiratory insufficiency due to muscle weakness, Respiratory failure, H...	OMIM:618414
Spherocytosis, Type 3	Hemolytic anemia, Spherocytosis	OMIM:270970
Pontocerebellar Hypoplasia, Type 4	Death in infancy, Respiratory failure, Dysphagia	OMIM:225753
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification	Emphysema, Cirrhosis, Portal hypertension	OMIM:210050
Whim Syndrome	Abnormal small intestine morphology, Sinusitis, Pneumonia, Respiratory tract infection, Atelectas...	ORPHA:51636
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, P...	ORPHA:731
Allergic Bronchopulmonary Aspergillosis	Abnormal eosinophil morphology, Asthma, Bronchiectasis, Respiratory insufficiency, Cough, Pulmona...	ORPHA:1164
Lymphangioleiomyomatosis	Gastrointestinal hemorrhage, Recurrent respiratory infections, Atelectasis, Dyspnea, Pneumothorax...	ORPHA:538
Oculopharyngeal Myopathy With Leukoencephalopathy 1	Gastrointestinal dysmotility, Respiratory failure, Dysphagia	OMIM:618637
Pyropoikilocytosis, Hereditary	Pyropoikilocytosis, Hemolytic anemia, Microspherocytosis, Elliptocytosis	OMIM:266140
Congenital Muscular Dystrophy With Intellectual Disability	Abnormality of the tongue muscle, Cryptorchidism, Respiratory failure, Respiratory insufficiency	ORPHA:370968
Larsen-Like Syndrome, Lethal Type	Tracheomalacia, Neonatal death, Pulmonary hypoplasia, Respiratory insufficiency	OMIM:245650
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Hematemesis, Esophageal varix,...	OMIM:263200
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Pe...	ORPHA:232
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Respiratory distress, Hepatomegaly, Death in infancy, Tachypnea, Respiratory insufficiency, Hyper...	OMIM:614299
Ovalocytosis, Southeast Asian	Hemolytic anemia, Elliptocytosis	OMIM:166900
Hyperekplexia 4	Umbilical hernia, Respiratory failure, High palate	OMIM:618011
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Gastroesophageal reflux, Respiratory failure, Hepatic steatosis, Dysphagia	ORPHA:70472
Reynolds Syndrome	Hepatomegaly, Abnormal gastric mucosa morphology, Jaundice, Xerostomia, Respiratory insufficiency...	ORPHA:779
Mitochondrial Complex I Deficiency, Nuclear Type 35	Neonatal death, Pulmonary arterial hypertension, Neonatal respiratory distress, Pulmonary hypoplasia	OMIM:619003
Triosephosphate Isomerase Deficiency	Respiratory distress, Death in infancy, Normocytic anemia, Hemolytic anemia, Macrocytic anemia, R...	OMIM:615512
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Situs inversus totalis, Abnorma...	OMIM:615415
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability	Respiratory failure	OMIM:600561
Polyposis of gastric fundus without polyposis coli	Abnormal gastric mucosa morphology, Multiple gastric polyps	OMIM:175505
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Respiratory distress, Hepatomegaly, Respiratory failure requiring assisted ventilation, Respirato...	ORPHA:308552
Ceroid Lipofuscinosis, Neuronal, 10	Neonatal death, Respiratory failure, Apnea, Respiratory insufficiency	OMIM:610127
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con...	OMIM:301083
Combined Oxidative Phosphorylation Deficiency 8	Neonatal death, Death in infancy, Pulmonary hypoplasia, Death in childhood	OMIM:614096
Dietary Iron Overload Disease	Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Micronodular cirrhosi...	ORPHA:139507
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Death in infancy, Neonatal respiratory distress, Respiratory insufficiency, Hyperhidrosis, Respir...	OMIM:245400
Waardenburg Syndrome Type 3	Tracheomalacia, Atelectasis	ORPHA:896
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Death in infancy, Respiratory failure, Apnea	OMIM:616277
Leigh Syndrome	Respiratory failure, Abnormal pattern of respiration, Respiratory insufficiency, Hepatocellular n...	OMIM:256000
Erythrocytosis, Familial, 3	Increased red blood cell mass, Increased hematocrit, Increased hemoglobin	OMIM:609820
Dextrocardia	Meckel diverticulum, Intestinal malrotation, Situs inversus totalis, Abnormality of the spleen, H...	ORPHA:1666
Renal Hypodysplasia/Aplasia 2	Pulmonary hypoplasia	OMIM:615721
T-Cell Immunodeficiency With Thymic Aplasia	Aplasia of the thymus, Recurrent bronchopulmonary infections, Recurrent pneumonia, Bronchiectasis...	OMIM:242700
Severe Neurodegenerative Syndrome With Lipodystrophy	Hepatomegaly, Hyperinsulinemia, Respiratory failure, Cirrhosis, Hepatic steatosis	ORPHA:363400
Acrocephalopolydactylous Dysplasia	Hypoplastic colon, Hepatomegaly, Pancreatic fibrosis, Hypoplasia of the small intestine, Hepatic ...	OMIM:200995
Brain-Lung-Thyroid Syndrome	Thyroid dysgenesis, Recurrent respiratory infections, Hypoparathyroidism, Thyroid hemiagenesis, R...	ORPHA:209905
3-Methylglutaconic Aciduria Type 7	Hepatic steatosis, Pneumothorax, Respiratory failure, Bone marrow hypocellularity, Infection asso...	ORPHA:445038
Pallister-Hall-Like Syndrome	Death in infancy, Occipital encephalocele, Hydrocephalus, Microglossia, Cleft palate, Pulmonary h...	OMIM:241800
Erythrocytosis, Familial, 7	Increased hematocrit, Polycythemia	OMIM:617981
Joubert Syndrome 21	Encephalocele, Occipital encephalocele, Apnea, Splenomegaly, Dyspnea, Respiratory failure, Pulmon...	OMIM:615636
Vacterl Association With Hydrocephalus	Aqueductal stenosis, Hydrocephalus, Respiratory insufficiency, Respiratory failure, Stillbirth, A...	OMIM:276950
Combined Oxidative Phosphorylation Deficiency 28	Respiratory failure	OMIM:616794
Mirage Syndrome	Lymphopenia, Hypergonadotropic hypogonadism, Adrenal hypoplasia, Cryptorchidism, Esophageal stric...	OMIM:617053
Muscular Dystrophy, Congenital, 1B	Respiratory failure	OMIM:604801
Common Variable Immunodeficiency	Recurrent respiratory infections, Hemolytic anemia, Pneumonia, Autoimmune thrombocytopenia, Gastr...	ORPHA:1572
Lujo Hemorrhagic Fever	Respiratory distress, Crackles, Atelectasis, Fulminant hepatitis, Odynophagia, Nonproductive coug...	ORPHA:319213
Nephronophthisis 2	Situs inversus totalis, Respiratory failure, Pulmonary hypoplasia, Respiratory insufficiency	OMIM:602088
Malignant Atrophic Papulosis	Gastrointestinal hemorrhage, Intestinal fistula, Intestinal perforation, Peritonitis, Gastrointes...	ORPHA:679
Combined Oxidative Phosphorylation Deficiency 11	Hepatomegaly, Death in infancy, Respiratory failure, Stillbirth, Death in childhood, Neonatal dea...	OMIM:614922
Erythrocytosis, Familial, 6	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617980
Perlman Syndrome	Hepatomegaly, High, narrow palate, Cryptorchidism, Hyperinsulinemia, Abnormal pancreas morphology	ORPHA:2849
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Respiratory distress, Recurrent respiratory infections, Aplasia/Hypoplasia of the tongue, Dyspnea...	ORPHA:2759
Martinez-Frias Syndrome	Intestinal hypoplasia, Hypoplasia of the gallbladder, Jejunal atresia, Intestinal malrotation, Ex...	OMIM:601346
Combined Oxidative Phosphorylation Deficiency 4	Hepatomegaly, Respiratory failure, Death in infancy	OMIM:610678
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Bone Marrow Failure Syndrome 6	Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia	OMIM:618849
Microphthalmia, Syndromic 9	Agenesis of pulmonary vessels, Cryptorchidism, Alveolar capillary dysplasia, Multilobulated splee...	OMIM:601186
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Aqueductal stenosis, Splenomegaly, Pulmonary hypoplasia, Intestinal malrotation	ORPHA:3035
Snakebite Envenomation	Epistaxis, Neuromuscular dysphagia, Pseudobulbar paralysis, Respiratory failure, Respiratory para...	ORPHA:449285
Spondylometaphyseal Dysplasia, X-Linked	Respiratory failure, Respiratory insufficiency	OMIM:313420
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Hypoventilation, Protruding tongue, Atelectasis, Intercostal muscle weakness, Respiratory insuffi...	ORPHA:258
Autosomal Dominant Hyper-Ige Syndrome	Recurrent respiratory infections, Eosinophilia, Atelectasis, Cleft palate, Cough	ORPHA:2314
Ciliary Dyskinesia, Primary, 20	Atrial situs inversus, Recurrent respiratory infections, Productive cough, Situs inversus totalis...	OMIM:615067
Lissencephaly Syndrome, Norman-Roberts Type	Respiratory distress, Hypoplastic spleen, Dysphagia	ORPHA:89844
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Abnormal lung lobation, Pulmonary hypoplasia, Cleft palate	ORPHA:2631
Red Cell Permeability Defect	Elliptocytosis	OMIM:179650
Meckel Syndrome, Type 6	Absent gallbladder, Occipital encephalocele, Hydrocephalus, Bilobed right lung, Anencephaly, Clef...	OMIM:612284
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Hepatomegaly, Respiratory failure, Death in infancy, Cryptorchidism	ORPHA:1194
Mitchell-Riley Syndrome	Absent gallbladder, Meckel diverticulum, Diabetes mellitus, Jejunal atresia, Intestinal malrotati...	OMIM:615710
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Hepatomegaly, Atrophic gastritis, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splen...	OMIM:616100
Glycogen Storage Disease Due To Acid Maltase Deficiency	Respiratory distress, Hepatomegaly, Orthopnea, Respiratory tract infection, Atelectasis, Respirat...	ORPHA:365
Ménétrier Disease	Gastrointestinal hemorrhage, Helicobacter pylori infection, Abnormal gastric mucosa morphology, M...	ORPHA:2494
Annular Pancreas	Annular pancreas, High intestinal obstruction, Duodenal stenosis	ORPHA:675
Pancreas, Annular	Annular pancreas, High intestinal obstruction, Duodenal stenosis	OMIM:167750
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume	OMIM:300946
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome	Neonatal death, Bilateral lung agenesis, Respiratory insufficiency	OMIM:601612
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Hepatomegaly, Atrophic gastritis, Autoimmune hemolytic anemia, Pneumonia, Pure red cell aplasia, ...	ORPHA:436159
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Tongue atrophy, Respiratory failure, Dysphagia	OMIM:613435
Hb Bart'S Hydrops Fetalis	Splenomegaly, Abnormal hemoglobin, Anemia	ORPHA:163596
Congenital Multicore Myopathy With External Ophthalmoplegia	Recurrent respiratory infections, Pneumonia, Cryptorchidism, Abnormal respiratory system physiolo...	ORPHA:98905
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism	Pulmonary hypoplasia, Adrenal hypoplasia	OMIM:613124
Intermediate Nemaline Myopathy	High, narrow palate, Respiratory failure, Dysphagia	ORPHA:171433
Lymphatic Malformation 12	Neonatal respiratory distress, Pleural thickening, Death in adolescence, Hydrocele testis, Neonat...	OMIM:620014
Primary Pulmonary Hypoplasia	Recurrent respiratory infections, Neonatal respiratory distress, Apnea, Asthma, Pneumothorax, Tac...	ORPHA:2257
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities	Pulmonary hypoplasia, Absent uvula	OMIM:616531
Nocardiosis	Respiratory distress, Liver abscess, Pneumonia, Productive cough, Nonproductive cough, Peritoniti...	ORPHA:31204
Congenital Diaphragmatic Hernia	Respiratory distress, Intestinal malrotation, Pulmonary hypoplasia, Hypoxemia	ORPHA:2140
Multiple Mitochondrial Dysfunctions Syndrome 3	Respiratory failure, High palate, Respiratory insufficiency	OMIM:615330
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Acute pancreatitis, Dyspnea, Cardiorespiratory arrest, Restrictive ventilatory defe...	ORPHA:26791
Congenital Myopathy 10B, Mild Variant	Reduced forced vital capacity, Recurrent pneumonia, Cleft palate, Respiratory failure, High palat...	OMIM:620249
Beta-Thalassemia	Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Anemia, Thrombocytopenia	ORPHA:848
Congenital Tracheomalacia	Apnea, Tracheobronchomalacia, Gastroesophageal reflux, Cough, Emphysema, Neonatal respiratory dis...	ORPHA:95430
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Respiratory distress, Hepatomegaly, Respiratory insufficiency due to muscle weakness, Respiratory...	OMIM:220110
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Respiratory distress, Respiratory failure, Pulmonary hypoplasia	OMIM:617895
22Q11.2 Deletion Syndrome	Anorectal anomaly, Abnormal lung lobation, Hypoplasia of the thymus, Gastroesophageal reflux, Hyp...	ORPHA:567
Neuropathy, Congenital Hypomyelinating, 3	Narrow palate, Respiratory insufficiency, Respiratory failure, Gastroesophageal reflux, High pala...	OMIM:618186
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Portal hypertension, Cryptorchidism, Thrombocytopenia, Pulmonary fibrosis, Type I diabetes mellit...	OMIM:620365
Congenital Lobar Emphysema	Respiratory distress, Emphysema	ORPHA:1928
Arthrogryposis Multiplex Congenita 6	Neonatal death, Death in infancy, Respiratory failure, Death in childhood	OMIM:619334
Peroxisome Biogenesis Disorder 4A (Zellweger)	Hepatomegaly, Respiratory failure, Death in infancy	OMIM:614862
Rajab Interstitial Lung Disease With Brain Calcifications 1	Pancytopenia, Intestinal malrotation, Portal hypertension, Cough, Tachypnea, Esophageal varix, Ab...	OMIM:613658
Atelosteogenesis, Type Ii	Death in infancy, Respiratory insufficiency, Cleft palate, Stillbirth, Pulmonary hypoplasia	OMIM:256050
Gracile Bone Dysplasia	Death in infancy, Asplenia, Hydrocephalus, Hypoplastic spleen, Ankyloglossia	OMIM:602361
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Intestinal malrotation, Testicular atrophy, Pulmonary hypoplasia	OMIM:601163
Congenital Neuronal Ceroid Lipofuscinosis	Neonatal respiratory distress, Apnea, Respiratory failure	ORPHA:168486
Immunodeficiency 57 With Autoinflammation	Recurrent respiratory infections, Gastritis, Perianal abscess, Bronchiectasis, T lymphocytopenia,...	OMIM:618108
Severe Congenital Nemaline Myopathy	Respiratory failure, Pulmonary hypoplasia, Dysphagia	ORPHA:171430
Postsynaptic Congenital Myasthenic Syndromes	Orthopnea, Reduced vital capacity, Restrictive ventilatory defect, Respiratory failure, High pala...	ORPHA:98913
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Hydrocephalus, Pulmonary hypoplasia	OMIM:618174
Proximal Spinal Muscular Atrophy	Hypoventilation, Neonatal respiratory distress, Recurrent infections due to aspiration, Intercost...	ORPHA:70
Congenital Alveolar Capillary Dysplasia	Respiratory distress, Absent gallbladder, Aganglionic megacolon, Intestinal malrotation, Asplenia...	ORPHA:210122
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Mixed Connective Tissue Disease	Gastrointestinal hemorrhage, Hepatomegaly, Hemolytic anemia, Gastritis, Splenomegaly, Dyspnea, Me...	ORPHA:809
Bloom Syndrome	Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Diabetes mellitus, Abnormal...	ORPHA:125
Lethal Congenital Contracture Syndrome 11	Pulmonary hypoplasia	OMIM:617194
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Respiratory failure requiring assisted ventilation, Tachypnea, Anomalous pulmonary ...	ORPHA:555874
Digeorge Syndrome	High, narrow palate, Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia of the thymus...	OMIM:188400
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Recurrent respiratory infections, Death in infancy, Polycystic liver disease, Pancreatic fibrosis...	OMIM:208500
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Hypergonadotropic hypogonadism, Respiratory insufficiency due to muscle weakness, Dyspnea, Respir...	ORPHA:352447
Riddle Syndrome	Generalized lymphadenopathy, Pneumonia, Bronchitis, Neonatal asphyxia, Recurrent pneumonia, Abnor...	ORPHA:420741
Dyssegmental Dysplasia, Silverman-Handmaker Type	Occipital encephalocele, Cryptorchidism, Respiratory insufficiency, Pulmonary hypoplasia, Neonata...	OMIM:224410
Pyruvate Dehydrogenase E1-Alpha Deficiency	Respiratory failure, Apneic episodes precipitated by illness, fatigue, stress	OMIM:312170
Alg1-Cdg	Abnormality of the gastrointestinal tract, Respiratory failure, Protein-losing enteropathy	ORPHA:79327
Osteopetrosis, Autosomal Recessive 5	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Thrombocyto...	OMIM:259720
Hypocomplementemic Urticarial Vasculitis	Hepatomegaly, Splenomegaly, Dyspnea, Emphysema, Lymphadenopathy, Restrictive ventilatory defect, ...	ORPHA:36412
Geleophysic Dysplasia 3	Dyspnea, Hepatomegaly, Respiratory failure, Pneumonia	OMIM:617809
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Macroglossia, Respiratory failure, Restrictive ventilatory defect, Dysphagia	OMIM:606612
Atelosteogenesis Type I	Malrotation of colon, Abnormal pancreatic duct morphology, Pulmonary hypoplasia, Cleft palate	ORPHA:1190
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect	Stillbirth, High palate, Pulmonary hypoplasia	OMIM:617468
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
1Q41Q42 Microdeletion Syndrome	Hypergonadotropic hypogonadism, Cryptorchidism, Hyposegmentation of neutrophil nuclei, Submucous ...	ORPHA:250999
Nk-Cell Enteropathy	Colonic diverticula, Duodenal ulcer, Abnormal gastric mucosa morphology, Increased T cell count, ...	ORPHA:263665
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Hepatomegaly, Neonatal respiratory distress, Death in infancy, Apnea, Lipid accumulation in hepat...	OMIM:608836
Pentalogy Of Cantrell	Encephalocele, Absent gallbladder, Hydrocephalus, Anencephaly, Cleft palate, Pulmonary hypoplasia...	ORPHA:1335
Mitochondrial Complex I Deficiency, Nuclear Type 18	Death in infancy, Respiratory failure	OMIM:618240
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Tachypnea, Hyperhidrosis, Respiratory failure, Inspiratory stridor, Ventilator dependence with in...	OMIM:604320
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Respiratory distress, Repeated pneumothoraces, Atelectasis, Hydrocephalus, Respiratory insufficie...	ORPHA:536467
Car T Cell Therapy-Associated Cytokine Release Syndrome	Tachypnea, Hypoxemia, Respiratory failure, Pleural effusion, Pulmonary edema	ORPHA:542323
Relapsing Polychondritis	Atelectasis, Dyspnea, Hepatitis, Anteriorly placed anus, Cough, Abnormal pattern of respiration	ORPHA:728
Congenital Myopathy 1B, Autosomal Recessive	Recurrent respiratory infections, High palate, Pulmonary hypoplasia, Respiratory insufficiency	OMIM:255320
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Respiratory failure, Tachypnea, Anemia, Death in childhood	OMIM:615838
Peripartum Cardiomyopathy	Orthopnea, Diabetes mellitus, Abnormality of thyroid physiology, Crackles, Dyspnea, Asthma, Respi...	ORPHA:563
Sarcoidosis, Susceptibility To, 1	Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Cough, Splenomegaly, Dyspnea, Emphysema,...	OMIM:181000
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Pancreatic fibrosis, Pulmonary hypoplasia	OMIM:615503
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Respiratory distress, Death in infancy, Death in childhood, Respiratory failure, High palate, Chy...	OMIM:620278
Boutonneuse Fever	Cervical lymphadenopathy, Lymphadenopathy, Leukopenia, Respiratory failure, Thrombocytopenia	ORPHA:83313
Maternal Uniparental Disomy Of Chromosome 2	Neonatal respiratory distress, Miscarriage, Decreased response to growth hormone stimulation test...	ORPHA:96179
Feingold Syndrome	Abnormality of the spleen, Annular pancreas, Esophageal atresia, Duodenal atresia	ORPHA:1305
Multiple Mitochondrial Dysfunctions Syndrome 1	Death in infancy, Respiratory insufficiency, Respiratory failure, Neonatal death, Pulmonary arter...	OMIM:605711
Fetal Akinesia Deformation Sequence	Intestinal hypoplasia, Cryptorchidism, Respiratory insufficiency, Cleft palate, Pulmonary hypoplasia	ORPHA:994
Congenital Muscular Dystrophy, Ullrich Type	Respiratory failure	ORPHA:75840
Bare Lymphocyte Syndrome, Type I	Bronchiectasis, Bronchiolitis, Emphysema, Chronic sinusitis, Recurrent bronchitis	OMIM:604571
Agnathia-Otocephaly Complex	Respiratory distress, Situs inversus totalis, Aglossia, Cleft palate, Pulmonary hypoplasia, Holop...	OMIM:202650
Central Hypoventilation Syndrome, Congenital, 3	Respiratory failure, Apnea, Central hypoventilation	OMIM:619483
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Pancytopenia, Diabetes mellitus, Thrombocytopenia, Respiratory insufficiency, Leukopenia, Respira...	OMIM:613845
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Respiratory failure, Dysphagia	OMIM:613954
Renal Tubular Dysgenesis	Pulmonary hypoplasia	ORPHA:3033
Pontocerebellar Hypoplasia Type 1	Respiratory failure, Congenital laryngeal stridor	ORPHA:2254
Oculogastrointestinal Muscular Dystrophy	Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-...	ORPHA:1876
Mitochondrial Complex I Deficiency, Nuclear Type 10	Respiratory failure, Apnea, Central hypoventilation, Dysphagia	OMIM:618233
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Esophageal atresia, Hydrocephalus, Tracheoesophageal fistula, Isomerism, Pulmonary hypoplasia, Ne...	OMIM:314390
Pericardial And Diaphragmatic Defect	Neonatal respiratory distress, Intestinal malrotation, Hypoxemia, Pulmonary hypoplasia, Pulmonary...	ORPHA:2847
Mercury Poisoning	Respiratory distress, Dyspnea, Interstitial pneumonitis, Respiratory failure	ORPHA:330021
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Recurrent respiratory infections, Mesenteric cyst, Intestinal malrotation, Cryptorchidism, Gastro...	OMIM:618316
Neuromyelitis Optica Spectrum Disorder	Respiratory failure	ORPHA:71211
Multiple Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Hepatomegaly, Jaundice, Pulmonary hypoplasia, Neonatal death, Hepatic perip...	OMIM:231680
Epidermodysplasia Verruciformis, Susceptibility To, 4	Emphysema, Increased proportion of exhausted T cells	OMIM:618307
Mitochondrial Trifunctional Protein Deficiency	Hypoparathyroidism, Respiratory insufficiency, Cholestasis, Respiratory failure, Diffuse hepatic ...	ORPHA:746
Muscular Dystrophy, Congenital, With Or Without Seizures	Type I diabetes mellitus, Respiratory failure, Respiratory distress, Dysphagia	OMIM:620166
Hypophosphatasia	Anemia, Emphysema, Respiratory insufficiency	ORPHA:436
Mitochondrial Trifunctional Protein Deficiency 1	Respiratory failure, Respiratory insufficiency, Cholestasis	OMIM:609015
S-Adenosylhomocysteine Hydrolase Deficiency	Abnormality of the liver, Respiratory failure, Hepatocellular carcinoma	ORPHA:88618
Czeizel-Losonci Syndrome	Spina bifida, Myelomeningocele, Hydrocephalus, Tracheoesophageal fistula, High palate, Hypoplasti...	ORPHA:2437
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,...	OMIM:619313
Gillessen-Kaesbach-Nishimura Syndrome	Periportal fibrosis, Abnormal lung lobation, Pulmonary hypoplasia	OMIM:263210
Tibial Muscular Dystrophy	Respiratory failure	ORPHA:609
Pagod Syndrome	Encephalocele, Death in infancy, Spina bifida, Situs inversus totalis, Abnormality of the spleen,...	ORPHA:991
Gaucher Disease, Perinatal Lethal	Respiratory distress, Hepatomegaly, Apnea, Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Pu...	OMIM:608013
Stormorken Syndrome	Howell-Jolly bodies, Epistaxis, Asplenia, Thrombocytopenia, Hypoplastic spleen, Anemia	OMIM:185070
Alg3-Cdg	Abnormality of the gastrointestinal tract, Abnormality of the endocrine system, Macroglossia, Neu...	ORPHA:79321
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Central apnea, Respiratory failure, Respiratory insufficiency due to muscle weakness, Spina bifid...	OMIM:618291
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Death in childhood, Cryptorchidism, Respiratory failure, Dysphagia	OMIM:619847
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Neonatal death, Stillbirth, Pulmonary hypoplasia, Hydranencephaly	OMIM:236500
Oculocerebrorenal Syndrome Of Lowe	Recurrent respiratory infections, Hyperparathyroidism, Death in infancy, Malabsorption, Atelectas...	ORPHA:534
Coenzyme Q10 Deficiency, Primary, 8	Respiratory distress, Pulmonary hypoplasia	OMIM:616733
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Respiratory distress, Central apnea, Hydrocephalus, Respiratory failure, Gastroesophageal reflux,...	OMIM:616482
Niemann-Pick Disease Type C	Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Abnormal lung morphology, Jaundice, Respirato...	ORPHA:646
Igg4-Related Thyroid Disease	Pancreatic fibrosis, Retroperitoneal fibrosis, Thyrotoxicosis with diffuse goiter, Abnormal pitui...	ORPHA:64744
Spinocerebellar Ataxia Type 1	Respiratory failure, Dysphagia	ORPHA:98755
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Myelopathy, Bradypnea, Respiratory failure, Cervical myelopathy, Death in childhood	OMIM:617186
Cutis Laxa, Neonatal, With Marfanoid Phenotype	Emphysema	OMIM:614100
Tuberous Sclerosis Complex	Respiratory distress, Respiratory tract infection, Pancreatic endocrine tumor, Pituitary adenoma,...	ORPHA:805
Tonne-Kalscheuer Syndrome	Cryptorchidism, Velopharyngeal insufficiency, Pulmonary hypoplasia, Dysphagia, Decreased testicul...	OMIM:300978
Listeriosis	Respiratory distress, Liver abscess, Miscarriage, Pneumonia, Jaundice, Peritonitis, Hepatic granu...	ORPHA:533
Tropical Pancreatitis	Pancreatic adenocarcinoma, Maternal diabetes, Jaundice, Insulin-dependent but ketosis-resistant d...	ORPHA:103918
Cutis Laxa-Marfanoid Syndrome	Emphysema	ORPHA:171719
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Pulmonary hypoplasia	ORPHA:2141
Autoimmune Polyendocrinopathy Type 3	Atrophic gastritis, Macrocytic anemia, Hypergonadotropic hypogonadism, Autoimmune hypoparathyroid...	ORPHA:227982
Esophageal Atresia	Respiratory distress, Bronchitis, Maternal diabetes, Gastrointestinal dysmotility, Anorectal anom...	ORPHA:1199
Combined Oxidative Phosphorylation Deficiency 37	Respiratory failure, Bile duct proliferation, Macrovesicular hepatic steatosis, Respiratory insuf...	OMIM:618329
Shwachman-Diamond Syndrome 2	Normocytic anemia, Hepatomegaly, Death in infancy, Neutropenia, Steatorrhea, Death in childhood, ...	OMIM:617941
Autoimmune Polyendocrinopathy Type 4	Atrophic gastritis, Macrocytic anemia, Hypergonadotropic hypogonadism, Autoimmune thrombocytopeni...	ORPHA:227990
Myopathy, Myofibrillar, 9, With Early Respiratory Failure	Reduced vital capacity, Respiratory failure, Nocturnal hypoventilation	OMIM:603689
Radio-Renal Syndrome	Respiratory distress, High, narrow palate, Dyspnea, Respiratory failure, Chylothorax, Pleural eff...	ORPHA:3015
Pearson Syndrome	Decreased response to growth hormone stimulation test, Abnormality of the liver, Neutropenia, Hyp...	ORPHA:699
Achondrogenesis Type 2	Pulmonary hypoplasia, Cardiorespiratory arrest	ORPHA:93296
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Pulmonary artery stenosis, Cleft palate, Bilateral lung agenesis, Congenital pulmonary airway mal...	OMIM:611812
3-Methylglutaconic Aciduria, Type Viii	Death in infancy, Apnea, Jaundice, Neutropenia, Hypopnea, Respiratory failure, Dysphagia, Neonata...	OMIM:617248
Dyssegmental Dysplasia, Silverman-Handmaker Type	Encephalocele, Miscarriage, Cryptorchidism, Hydrocephalus, Respiratory insufficiency, Cleft palat...	ORPHA:1865
Lethal Congenital Contracture Syndrome 1	Neonatal death, Pulmonary hypoplasia	OMIM:253310
Diaphanospondylodysostosis	Respiratory distress, Respiratory insufficiency, Cleft palate, Abnormal liver lobulation, Pulmona...	OMIM:608022
Thanatophoric Dysplasia	Hydrocephalus, Pulmonary hypoplasia, Respiratory insufficiency	ORPHA:2655
Arterial Tortuosity Syndrome	Respiratory distress, Hiatus hernia, Pyloric stenosis, Pulmonary artery stenosis, Dyspnea, Cardio...	ORPHA:3342
Kagami-Ogata Syndrome	Splenomegaly, Hepatomegaly, Pulmonary hypoplasia, Pulmonary arterial hypertension	OMIM:608149
Amyotrophic Lateral Sclerosis	Dyspnea, Respiratory failure, Xerostomia, Abnormal respiratory system physiology	ORPHA:803
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Respiratory failure, Narrow palate	OMIM:616505
Metatropic Dysplasia	Respiratory failure, Respiratory insufficiency	OMIM:156530
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Asplenia, Abnormal lung lobation, Neonatal death, Neonatal respiratory distress, Esophageal atres...	OMIM:265380
Pancreatic Agenesis 2	Diabetes mellitus, Pancreatic aplasia, Steatorrhea, Pancreatic hypoplasia, Exocrine pancreatic in...	OMIM:615935
Meacham Syndrome	Accessory spleen, Death in infancy, Partial anomalous pulmonary venous return, Cardiac total anom...	OMIM:608978
Meckel Syndrome 14	Occipital encephalocele, Pneumothorax, Cardiorespiratory arrest, Hepatic fibrosis, Pulmonary hypo...	OMIM:619879
Combined Oxidative Phosphorylation Deficiency 3	Hepatomegaly, Death in infancy, Dyspnea, Respiratory insufficiency, Respiratory failure, Death in...	OMIM:610505
Fraser Syndrome 2	Intestinal malrotation, Rectal atresia, Respiratory failure, Hypoplasia of the thymus, Anal atresia	OMIM:617666
Thanatophoric Dysplasia, Type I	Neonatal death, Hydrocephalus, Neonatal respiratory distress, Pulmonary hypoplasia	OMIM:187600
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Spontaneous, recurrent epistaxis, Pancytopenia, Abnormality of the spleen, Splenomegaly, Thromboc...	ORPHA:2072
Nijmegen Breakage Syndrome	Recurrent sinopulmonary infections, Anal stenosis, Recurrent respiratory infections, Hemolytic an...	ORPHA:647
Fryns Syndrome	Ectopic pancreatic tissue, Aganglionic megacolon, Intestinal malrotation, Cryptorchidism, Esophag...	OMIM:229850
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Respiratory failure requiring assisted ventilation, Ileal atresia, Peritonitis, Elevated pulmonar...	OMIM:619351
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Respiratory distress, Iron deficiency anemia, Colitis, Neutropenia, Hypothyroidism, Hyperthyroidi...	ORPHA:37042
Spondylospinal Thoracic Dysostosis	Pulmonary hypoplasia	OMIM:601809
Sandestig-Stefanova Syndrome	Respiratory failure, High palate	OMIM:618804
Fanconi Renotubular Syndrome 5	Decreased DLCO, Emphysema, Pulmonary fibrosis, Lung adenocarcinoma	OMIM:618913
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Respiratory failure requiring assisted ventilation, Respiratory failure, Recurrent pneumonia, Dys...	ORPHA:496641
Wolfram Syndrome	Gastrointestinal hemorrhage, Central apnea, Diabetes mellitus, Malabsorption, Abnormal mesentery ...	ORPHA:3463
Oculocerebrofacial Syndrome, Kaufman Type	Respiratory distress, High, narrow palate, Respiratory failure, Dyspnea	ORPHA:2707
Hemorrhagic Fever-Renal Syndrome	Respiratory distress, Pneumonia, Epistaxis, Hematemesis, Dyspnea, Leukocytosis, Thrombocytopenia,...	ORPHA:340
Hereditary Motor And Sensory Neuropathy, Type Iic	Stridor, Respiratory failure, Intercostal muscle weakness	OMIM:606071
Diamond-Blackfan Anemia 6	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume	OMIM:612561
Abetalipoproteinemia	Hepatomegaly, Reticulocytosis, Acanthocytosis, Hypothyroidism, Respiratory failure, Hepatic fibro...	ORPHA:14
Combined Oxidative Phosphorylation Defect Type 23	Stridor, Respiratory failure, Paroxysmal dyspnea	ORPHA:444013
Muscular Dystrophy, Duchenne Type	Respiratory insufficiency due to muscle weakness, Hypoventilation, Respiratory failure, Restricti...	OMIM:310200
Bickerstaff Brainstem Encephalitis	Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Respiratory tract inf...	ORPHA:79138
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Pancreatic fibrosis, Intestinal malrotation, Hamartoma of tongue, Cleft palate, Hepatic fibrosis,...	OMIM:263520
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Hepatomegaly, Diabetes mellitus, Aplasia/Hypoplasia of the pancreas, Abnormal liver parenchyma mo...	ORPHA:456312
Tetraamelia Syndrome 1	Asplenia, Hydrocephalus, Peripheral pulmonary vessel aplasia, Cleft palate, Pulmonary hypoplasia,...	OMIM:273395
Thoracic Dysplasia-Hydrocephalus Syndrome	Communicating hydrocephalus, Respiratory failure	ORPHA:1861
Chand Syndrome	Atelectasis, Bifid tongue, Cleft palate, Hypohidrosis	ORPHA:1401
Beta-Thalassemia Intermedia	Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, Splenom...	ORPHA:231222
Odontochondrodysplasia 1	Respiratory distress, Recurrent respiratory infections, Pulmonary hypoplasia, Death in infancy	OMIM:184260
Serkal Syndrome	Malrotation of small bowel, Pulmonary hypoplasia, Abnormality of the adrenal glands	ORPHA:139466
Poliomyelitis	Respiratory failure requiring assisted ventilation, Paralytic ileus, Respiratory failure, Dysphag...	ORPHA:2912
Hereditary Methemoglobinemia	Methemoglobinemia	ORPHA:621
Lethal Congenital Contracture Syndrome 10	Narrow palate, Macroglossia, High palate, Hypoplasia of the thymus, Pulmonary hypoplasia	OMIM:617022
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Neonatal respiratory distress, Hypohidrosis, High palate, Pulmonary hypoplasia, Dysphagia	OMIM:616866
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Interstitial emphysema, Bronchiectasis, Inflammation of the large intestine, Rectovaginal fistula...	OMIM:619708
Pearson Marrow-Pancreas Syndrome	Hepatomegaly, Villous atrophy, Sideroblastic anemia, Pancreatic fibrosis, Pancytopenia, Malabsorp...	OMIM:557000
Marden-Walker Syndrome	Cryptorchidism, High, narrow palate, Pyloric stenosis, Cleft palate, Zollinger-Ellison syndrome, ...	OMIM:248700
Mitochondrial Complex I Deficiency, Nuclear Type 1	Hepatomegaly, Death in infancy, Apnea, Splenomegaly, Respiratory insufficiency, Respiratory failure	OMIM:252010
Igg4-Related Submandibular Gland Disease	Cholangitis, Eosinophilia, Retroperitoneal fibrosis, Abnormality of the thyroid gland, Prostatiti...	ORPHA:449432
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Short uvula, Cleft palate, High palate, Hepatic fibrosis, Pulmonary hypoplasia	OMIM:614091
Renal Tubular Dysgenesis	Pulmonary hypoplasia, Respiratory insufficiency	OMIM:267430
Autoimmune Lymphoproliferative Syndrome	Colitis, Thyroid carcinoma, Lymphocytosis, Increased B cell count, Elevated proportion of CD4-neg...	ORPHA:3261
Chromosome 1Q41-Q42 Deletion Syndrome	Supernumerary nipple, Cryptorchidism, Cleft palate, High palate, Pulmonary hypoplasia, Holoprosen...	OMIM:612530
Fibrodysplasia Ossificans Progressiva	Respiratory failure, Respiratory insufficiency	OMIM:135100
Meckel Syndrome	Accessory spleen, Encephalocele, Pancreatic fibrosis, Aplasia/Hypoplasia of the tongue, Asplenia,...	ORPHA:564
Congenital Fiber-Type Disproportion Myopathy	Recurrent respiratory infections, Hypercapnia, Respiratory insufficiency due to muscle weakness, ...	ORPHA:2020
Congenital Tracheal Stenosis	Respiratory distress, Meckel diverticulum, Abnormal stomach morphology, Neonatal asphyxia, Abnorm...	ORPHA:141127
Peroxisome Biogenesis Disorder 1A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Neonatal respiratory distress, Adrenal hypoplasia,...	OMIM:214100
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Encephalocele, Hamartoma of tongue, Cryptorchidism, Cleft palate, Respiratory insufficiency, Lobu...	OMIM:616300
Spondyloepimetaphyseal Dysplasia, Krakow Type	Decreased serum insulin-like growth factor 1, Allergic rhinitis, Asthma, Hydrocephalus, High pala...	OMIM:618162
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Cryptorchidism, Respiratory failure	OMIM:620327
Chromosome 13Q33-Q34 Deletion Syndrome	Encephalocele, Cryptorchidism, Pyloric stenosis, Anencephaly, Anteriorly placed anus, High palate...	OMIM:619148
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Hepatomegaly, Miscarriage, Cryptorchidism, Pulmonary artery stenosis, Large placenta, Hepatosplen...	ORPHA:96334
Aceruloplasminemia	Refractory anemia, Diabetes mellitus, Abnormal pancreas morphology, Hypochromic microcytic anemia...	ORPHA:48818
Glycogen Storage Disease Ib	Hepatomegaly, Pancreatic fibrosis, Splenomegaly, Delayed puberty, Neutropenia, Inflammation of th...	OMIM:232220
Vacterl With Hydrocephalus	Spina bifida, Aqueductal stenosis, Cryptorchidism, Esophageal atresia, Hydrocephalus, Tracheoesop...	ORPHA:3412
Steinert Myotonic Dystrophy	Respiratory failure requiring assisted ventilation, Diabetes mellitus, Intestinal pseudo-obstruct...	ORPHA:273
Jacobsen Syndrome	Recurrent respiratory infections, Pyloric stenosis, Cryptorchidism, Hydrocephalus, Holoprosenceph...	OMIM:147791
Infantile Krabbe Disease	Respiratory distress, Respiratory failure, Gastroesophageal reflux	ORPHA:206436
Costello Syndrome	Pyloric stenosis, Hydrocephalus, Pneumothorax, Respiratory insufficiency, Macroglossia, Respirato...	OMIM:218040
Caudal Regression Syndrome	Cryptorchidism, Pulmonary hypoplasia, Anal atresia, Maternal diabetes	ORPHA:3027
Lethal Congenital Contracture Syndrome 2	Respiratory failure	OMIM:607598
Tetrasomy 5P	Respiratory distress, Recurrent respiratory infections, Hydrocephalus, High palate, Pulmonary hyp...	ORPHA:3309
Greenberg Dysplasia	Hepatomegaly, Large placenta, Abnormal lung lobation, Hepatic calcification, Hepatosplenomegaly, ...	OMIM:215140
Autosomal Recessive Multiple Pterygium Syndrome	Neonatal respiratory distress, Cryptorchidism, Cleft palate, High palate, Pulmonary hypoplasia, H...	ORPHA:2990
Meier-Gorlin Syndrome 4	Cryptorchidism, Emphysema, Breast hypoplasia	OMIM:613804
Leigh Syndrome	Gastrointestinal dysmotility, Dysphagia, Respiratory failure, Neutropenia, Abnormal pattern of re...	ORPHA:506
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	HbH hemoglobin, Microcytic anemia	ORPHA:98791
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Respiratory failure, Thrombocytopenia, Hypochromic microcytic anemia	ORPHA:3240
Glycine Encephalopathy With Normal Serum Glycine	Respiratory failure, Apnea, Dysphagia	OMIM:617301
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ...	ORPHA:231226
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Hepatomegaly, Death in infancy, Microvesicular hepatic steatosis, Respiratory failure, High palat...	OMIM:300868
Lethal Congenital Contracture Syndrome Type 1	Pulmonary hypoplasia	ORPHA:1486
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia	OMIM:250790
Severe Generalized Junctional Epidermolysis Bullosa	Respiratory distress, Pneumonia, Dyspnea, Esophageal stricture, Pneumothorax, Gastrointestinal in...	ORPHA:79404
Jacobsen Syndrome	Recurrent respiratory infections, Death in infancy, Intestinal malrotation, Spina bifida, Cryptor...	ORPHA:2308
Beta-Thalassemia Major	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad...	ORPHA:231214
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Pancreatic steatosis, Cryptorchidism, Thro...	OMIM:617052
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Respiratory distress, Hepatomegaly, Severe B lymphocytopenia, Biliary hyperplasia, Cryptorchidism...	ORPHA:83617
Fryns Syndrome	Aganglionic megacolon, Intestinal malrotation, Cryptorchidism, Cleft palate, Ectopic anus, High p...	ORPHA:2059
Scimitar Syndrome	Respiratory distress, Recurrent respiratory infections, Abnormal lung morphology, Partial anomalo...	ORPHA:185
Sarcoidosis	Abnormal lung morphology, Increased T cell count, Leukopenia, Cough, Emphysema, Hypothyroidism, H...	ORPHA:797
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Pleural effusion, Pulmonary hypoplasia, Cleft palate	OMIM:616897
Feingold Syndrome 1	Accessory spleen, Jejunal atresia, Asplenia, Esophageal atresia, Gastrointestinal atresia, Trache...	OMIM:164280
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Hepatomegaly, Diabetes mellitus, Pancreatic fibrosis, Hypothyroidism, Hepatic fibrosis, Steatorrh...	OMIM:616263
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Absent gallbladder, Esophageal diverticulum, Hamartoma of tongue, Cleft palate, Pulmonary hypopla...	OMIM:617925
Microcephaly-Micromelia Syndrome	Neonatal death, Pulmonary hypoplasia, Cleft palate, Aqueductal stenosis	OMIM:251230
Trisomy 8P	Cryptorchidism, Hydrocephalus, Recurrent upper respiratory tract infections, Abnormal lung lobati...	ORPHA:264450
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Respiratory distress, Stillbirth, Pulmonary hypoplasia	OMIM:151210
Genitopatellar Syndrome	Cryptorchidism, Apnea, Gastroesophageal reflux, Pulmonary hypoplasia	ORPHA:85201
Meckel Syndrome, Type 1	Accessory spleen, Occipital encephalocele, Intestinal malrotation, Malformation of the hepatic du...	OMIM:249000
Meier-Gorlin Syndrome 6	Recurrent respiratory infections, Decreased response to growth hormone stimulation test, Cryptorc...	OMIM:616835
Ear-Patella-Short Stature Syndrome	Respiratory distress, Cryptorchidism, High, narrow palate, Submucous cleft hard palate, Dyspnea, ...	ORPHA:2554
Williams Syndrome	Colonic diverticula, Recurrent respiratory infections, Death in early adulthood, Hypogonadotropic...	ORPHA:904
Renal Agenesis, Bilateral	Tracheoesophageal fistula, Cleft palate, Sirenomelia, Abnormal intestine morphology, Pulmonary hy...	ORPHA:1848
Congenital Myopathy 22B, Severe Fetal	Respiratory distress, Hepatomegaly, High palate, Pulmonary hypoplasia, Pleural effusion	OMIM:620369
Diaphragmatic Hernia 4, With Cardiovascular Defects	Hepatomegaly, Neonatal respiratory distress, Cryptorchidism, Aortopulmonary window, Pulmonary art...	OMIM:620025
Distal Triplication 15Q	Hydrocele testis, Hydrocephalus, High palate, Pulmonary hypoplasia	ORPHA:314588
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Respiratory failure, Hydrocephalus	OMIM:616538
Achondroplasia	Respiratory distress, Death in infancy, Hydrocephalus, Upper airway obstruction, Pulmonary hypopl...	OMIM:100800
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Macroglossia, Respiratory failure, Umbilical hernia, Large placenta	ORPHA:254528
Meier-Gorlin Syndrome 7	Anal stenosis, Cryptorchidism, Cleft palate, Duodenal stenosis, Anteriorly placed anus, Breast ap...	OMIM:617063
Multiple Pterygium Syndrome, X-Linked	Pulmonary hypoplasia, Cleft palate	OMIM:312150
Fanconi Anemia, Complementation Group D2	Pancytopenia, Hypergonadotropic hypogonadism, Cryptorchidism, Esophageal atresia, Thrombocytopeni...	OMIM:227646
Immunodeficiency 82 With Systemic Inflammation	Villous atrophy, Decreased proportion of naive T cells, Duodenal ulcer, Pneumonia, Bronchitis, Ga...	OMIM:619381
Schinzel-Giedion Syndrome	Respiratory distress, Streak ovary, Aganglionic megacolon, Myeloid leukemia, Recurrent pneumonia,...	ORPHA:798
Platyspondylic Dysplasia, Torrance Type	Pulmonary hypoplasia, Cleft palate	ORPHA:85166
Mosaic Trisomy 1	Pulmonary artery atresia, Hepatic agenesis, Pulmonary hypoplasia, Cleft palate	ORPHA:1692
Pelizaeus-Merzbacher Disease, Connatal Form	Respiratory failure	ORPHA:280210
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Absent gallbladder, Unilateral lung agenesis, Gastrointestinal dysmotility, Cleft palate, Respira...	ORPHA:500150
Teebi Hypertelorism Syndrome 1	Hydrocele testis, Pulmonary hypoplasia	OMIM:145420
Ulbright-Hodes Syndrome	Respiratory distress, Maternal diabetes, Cryptorchidism, Pneumothorax, Respiratory failure, High ...	ORPHA:3404
Acquired Methemoglobinemia	Methemoglobinemia	ORPHA:464453
Cardiac-Urogenital Syndrome	Accessory spleen, Unilateral cryptorchidism, Intestinal malrotation, Tracheomalacia, Cryptorchidi...	OMIM:618280
Congenital Myopathy 17	Respiratory tract infection, Respiratory insufficiency, Cleft palate, High palate, Pulmonary hypo...	OMIM:618975
Tarp Syndrome	Extramedullary hematopoiesis, Apnea, Cryptorchidism, Cleft palate, Glossoptosis, Pulmonary hypopl...	ORPHA:2886
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:617101
Multiple Pterygium Syndrome, Lethal Type	Pulmonary hypoplasia, Cleft palate	OMIM:253290
Neurodegeneration And Seizures Due To Copper Transport Defect	Respiratory distress, Pneumothorax, Pulmonary hypoplasia	OMIM:620306
Acro-Renal-Mandibular Syndrome	Aplasia/Hypoplasia of the tongue, Abnormal lung lobation, Tracheoesophageal fistula, High palate,...	ORPHA:958
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Anal stenosis, Cleft palate, Hydrocele testis, Gastroesophageal reflux, High palate, Pulmonary hy...	OMIM:614080
Absence Of The Pulmonary Artery	Recurrent respiratory infections, Abnormal pulmonary thoracic imaging finding, Orthopnea, Nonprod...	ORPHA:980
Alg9-Cdg	Hepatomegaly, Villous atrophy, Asthma, Abnormal lung lobation, Periportal fibrosis, Hypoplasia of...	ORPHA:79328
Mosaic Trisomy 16	Abnormality of the gastrointestinal tract, Maternal diabetes, Large placenta, Abnormal lung morph...	ORPHA:1708
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Adrenal hypoplasia, Stillbirth, Pulmonary hypoplasia, Umbilical hernia, Thyroid hypoplasia	OMIM:308050
Renal Hypodysplasia/Aplasia 1	Pulmonary hypoplasia	OMIM:191830
Truncus Arteriosus	Anomalous origin of one pulmonary artery from ascending aorta, Pulmonary artery stenosis, Tachypn...	ORPHA:3384
Bohring-Opitz Syndrome	Recurrent respiratory infections, Apnea, Cleft palate, Cholelithiasis, Annular pancreas	ORPHA:97297
Stuve-Wiedemann Syndrome 1	Death in infancy, Apnea, Pulmonary arterial medial hypertrophy, Respiratory insufficiency, Hyperh...	OMIM:601559
Smith-Lemli-Opitz Syndrome	Hepatomegaly, Death in infancy, Aganglionic megacolon, Intestinal malrotation, Precocious puberty...	OMIM:270400
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Anemia, Neutropenia, Thrombocy...	OMIM:260400
Lethal Acantholytic Erosive Disorder	Respiratory failure, Cleft palate	ORPHA:158687
Microphthalmia With Linear Skin Defects Syndrome	Respiratory distress, Dyspnea, Hydrocephalus, Respiratory failure, Abnormal rectum morphology, Ab...	ORPHA:2556
Diamond-Blackfan Anemia	Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten...	ORPHA:124
Thoracoabdominal Syndrome	Hydrocephalus, Anencephaly, Pulmonary hypoplasia, Cleft palate	OMIM:313850
Lmna-Related Cardiocutaneous Progeria Syndrome	Abnormal intrahepatic bile duct morphology, Emphysema, Abnormality of the pulmonary artery, Pulmo...	ORPHA:363618
Raine Syndrome	Death in infancy, Protruding tongue, Hydrocephalus, Cleft palate, High palate, Pulmonary hypoplas...	OMIM:259775
Thymoma	Leukemia, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis	ORPHA:99867
Multiple Pterygium Syndrome, Escobar Variant	Neonatal respiratory distress, Cryptorchidism, Cleft palate, High palate, Hypoplastic nipples, Pu...	OMIM:265000
Cutis Laxa, Autosomal Recessive, Type Ia	Recurrent respiratory infections, Emphysema, Umbilical hernia	OMIM:219100
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Hamartoma of tongue, Hydrocephalus, Anencephaly, Cleft palate, Pulmonary hypoplasia, Occipital me...	OMIM:616546
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:619769
Fontaine Progeroid Syndrome	Death in infancy, Absent nipple, Protruding tongue, Cryptorchidism, High, narrow palate, Pneumoth...	OMIM:612289
Beckwith-Wiedemann Syndrome	Hepatomegaly, Adrenocortical cytomegaly, Polycythemia, Cryptorchidism, Splenomegaly, Adrenocortic...	ORPHA:116
Orofaciodigital Syndrome Type 4	Recurrent respiratory infections, Monorchism, High, narrow palate, Submucous cleft hard palate, R...	ORPHA:2753
Congenital Total Pulmonary Venous Return Anomaly	Respiratory distress, Recurrent respiratory infections, Hepatomegaly, Respiratory failure requiri...	ORPHA:99125
Myhre Syndrome	Cryptorchidism, Respiratory failure, Respiratory insufficiency, Cleft palate	OMIM:139210
Ogden Syndrome	Apnea, Maternal diabetes, Microvesicular hepatic steatosis, Iron deficiency anemia, High palate, ...	OMIM:300855
Achondrogenesis, Type Ia	Stillbirth, Pulmonary hypoplasia, Protruding tongue	OMIM:200600
Mckusick-Kaufman Syndrome	Aganglionic megacolon, Cryptorchidism, Rectovaginal fistula, Pulmonary hypoplasia, Anal atresia	OMIM:236700
Neu-Laxova Syndrome	Spina bifida, Submucous cleft hard palate, Cleft palate, Hypogonadism, Pulmonary hypoplasia, Bifi...	ORPHA:2671
Otopalatodigital Syndrome Type 2	Encephalocele, Myelomeningocele, Hydrocephalus, Cleft palate, Glossoptosis, Pulmonary hypoplasia	ORPHA:90652
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	HbH hemoglobin	ORPHA:423479
Mitochondrial Complex I Deficiency, Nuclear Type 32	Respiratory failure, Patent urachus, Death in childhood	OMIM:618252
Lead Poisoning	Imbalanced hemoglobin synthesis, Anemia, Abnormal T cell morphology	ORPHA:330015
Smith-Lemli-Opitz Syndrome	Aganglionic megacolon, Cryptorchidism, Pyloric stenosis, Abnormality of the gallbladder, Abnormal...	ORPHA:818
Autosomal Recessive Cutis Laxa Type 1	Pyloric stenosis, Pneumothorax, Recurrent pneumonia, Respiratory insufficiency, Small bowel diver...	ORPHA:90349
Fetal Akinesia Deformation Sequence 1	Cryptorchidism, High, narrow palate, Hydrocephalus, Cleft palate, Stillbirth, High palate, Pulmon...	OMIM:208150
Otopalatodigital Syndrome, Type Ii	Spina bifida, Cryptorchidism, Hydrocephalus, Respiratory insufficiency, Cleft palate, Respiratory...	OMIM:304120
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Recurrent respiratory infections, Aortopulmonary window, Pulmonary hypoplasia, Pulmonary artery a...	ORPHA:99050
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Pulmonary hypoplasia	ORPHA:86822
Fraser Syndrome 1	Encephalocele, Abnormal small intestine morphology, Cryptorchidism, Myelomeningocele, Hydrocephal...	OMIM:219000
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Cryptorchidism, Dyspnea, Submucous cleft hard palate, Cleft palate, Abnormal circulating calcium-...	ORPHA:2636
Penile Agenesis	Maternal diabetes, Rectal fistula, Cryptorchidism, Anorectal anomaly, Tracheoesophageal fistula, ...	ORPHA:49
Oligomeganephronia	Branchial cyst, Pulmonary venous occlusion, Pulmonary hypoplasia	ORPHA:2260
Fraser Syndrome	Encephalocele, Death in infancy, Anal stenosis, Cryptorchidism, Myelomeningocele, Abnormal lung l...	ORPHA:2052
Spondylodysplastic Ehlers-Danlos Syndrome	Agenesis of pineal gland, Cryptorchidism, Cleft palate, Respiratory insufficiency, Restrictive ve...	ORPHA:536471
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Abnormal hemoglobin, Anemia	ORPHA:847
Ehlers-Danlos Syndrome, Vascular Type	Pulmonary bulla, Recurrent intrapulmonary hemorrhage, Spontaneous pneumothorax, Repeated pneumoth...	OMIM:130050
Atelosteogenesis Type Ii	Bilateral cleft palate, Tracheobronchomalacia, Pulmonary hypoplasia, Cleft palate	ORPHA:56304
Renal Agenesis	Pulmonary hypoplasia, Anal atresia	ORPHA:411709
Neu-Laxova Syndrome 1	Hydranencephaly, Spina bifida, Cryptorchidism, Cleft palate, Stillbirth, Pulmonary hypoplasia, Sh...	OMIM:256520
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:301040
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Cryptorchidism, Esophageal atresia, Congenital hepatic fibrosis, Respiratory insufficiency, Ectop...	ORPHA:93271
Cutis Laxa, Autosomal Dominant 1	Dyspnea, Emphysema, Bronchiectasis, Peripheral pulmonary artery stenosis	OMIM:123700
Acrorenal-Mandibular Syndrome	Absent nipple, High palate, Pulmonary hypoplasia, Narrow palate	OMIM:200980
Tetrasomy 9P	Absent gallbladder, Cryptorchidism, Jaundice, Hydrocephalus, Biliary atresia, Cleft palate, Umbil...	ORPHA:3310
Arteriosclerosis, Severe Juvenile	Gastric ulcer, Anemia, Delayed puberty	OMIM:208060
Diamond-Blackfan Anemia 1	Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,...	OMIM:105650
Lethal Congenital Contracture Syndrome 9	Short umbilical cord, Pulmonary hypoplasia, Cardiorespiratory arrest	OMIM:616503
Keutel Syndrome	Sinusitis, Miscarriage, Recurrent bronchitis, Pulmonary artery hypoplasia, Emphysema, Chronic sin...	OMIM:245150
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets	Iron deficiency anemia, Esophageal ulceration, Gastric ulcer, Duodenal ulcer	OMIM:618372
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Pulmonary hypoplasia, Anal atresia	OMIM:271520
Restrictive Dermopathy	Aplasia/Hypoplastia of the eccrine sweat glands, Large placenta, Submucous cleft hard palate, Pul...	ORPHA:1662
Distal Deletion 15Q	Decreased serum insulin-like growth factor 1, Cryptorchidism, Cleft palate, Pulmonary hypoplasia,...	ORPHA:1596
Dpagt1-Cdg	Hepatomegaly, Pulmonary hypoplasia, Anemia	ORPHA:86309
Coffin-Siris Syndrome 1	Recurrent respiratory infections, Duodenal ulcer, Intestinal malrotation, Cryptorchidism, Cleft p...	OMIM:135900
Restrictive Dermopathy 1	Adrenal hypoplasia, Submucous cleft hard palate, Hydropic placenta, Stillbirth, Pulmonary hypopla...	OMIM:275210
Osteogenesis Imperfecta	Intestinal obstruction, Neonatal respiratory distress, Hydrocephalus, Noncommunicating hydrocepha...	ORPHA:666
Blomstrand Lethal Chondrodysplasia	Pulmonary hypoplasia, Protruding tongue	ORPHA:50945
Wolfram Syndrome 2	Diabetes mellitus, Gastric ulcer	OMIM:604928
Genitopatellar Syndrome	Anal stenosis, Cryptorchidism, Malrotation of small bowel, Anteriorly placed anus, Pulmonary hypo...	OMIM:606170
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome	Pulmonary hypoplasia, Persistent cloaca	ORPHA:1112
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult	Hyperhidrosis, Gastric ulcer, Gastric hypertrophy	OMIM:161700
Pallister-Killian Syndrome	Anhidrosis, Anal stenosis, Intestinal malrotation, Supernumerary nipple, Cryptorchidism, Cleft pa...	OMIM:601803
Microphthalmia, Syndromic 1	Aganglionic megacolon, Cryptorchidism, Rectal prolapse, High, narrow palate, Pyloric stenosis, Hi...	OMIM:309800
Craniofacial Microsomia 1	Occipital encephalocele, Hydrocephalus, Cleft palate, Branchial anomaly, Pulmonary hypoplasia	OMIM:164210

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 Hhip

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 Hhip.

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

Title	Journal	IMPC Allele	PubMed ID
HHIPL1, a Gene at the 14q32 Coronary Artery Disease Locus, Positively Regulates Hedgehog Signaling and Promotes Atherosclerosis.	Circulation (June 2019)	Hhipl1^{tm1a(KOMP)Wtsi}	PMC6686954

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
Hhip^{tm50557(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Hhip^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Hhip^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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