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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 (569 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	Anemia, Imbalanced hemoglobin synthesis	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	Methemoglobinemia, Hemolytic anemia	OMIM:200300
Hemoglobin E-Beta-Thalassemia Syndrome	Anemia, Abnormal hemoglobin	ORPHA:231249
Hemoglobin D Disease	Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno...	ORPHA:90039
Diamond-Blackfan Anemia 19	Anemia, Erythroid hypoplasia, Steroid-responsive anemia	OMIM:618312
Delta-Beta-Thalassemia	Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231237
Transient Erythroblastopenia Of Childhood	Anemia, Transient erythroblastopenia	OMIM:227050
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Hemoglobin H Disease	Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin	OMIM:613978
Beta-Thalassemia, Dominant Inclusion Body Type	Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Incre...	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	Sideroblastic anemia, Abnormal erythrocyte morphology	OMIM:182170
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin	ORPHA:231393
Heinz Body Anemias	Heinz bodies, Nonspherocytic hemolytic anemia, Heinz body anemia	OMIM:140700
Hemoglobin E Disease	Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega...	ORPHA:2133
Adenylate Kinase Deficiency, Hemolytic Anemia Due To	Hemolytic anemia, Reduced erythrocyte adenylate kinase activity	OMIM:612631
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Anemia, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Immunodeficiency 95	Recurrent viral pneumonia, Ground-glass opacification, Lymphopenia, Recurrent viral upper respira...	OMIM:619773
Nphp3-Related Meckel-Like Syndrome	Intestinal malrotation, Abnormal biliary tract morphology, Abnormal liver parenchyma morphology, ...	ORPHA:3032
Bronchogenic Cyst	Pneumonia, Pulmonary cyst, Bronchogenic cyst, Atelectasis, Abnormal stomach morphology, Abnormal ...	ORPHA:2357
Diamond-Blackfan Anemia 3	Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of...	OMIM:610629
Spinal Muscular Atrophy, Type I	Recurrent respiratory infections, Respiratory failure, Death in childhood, Respiratory insufficiency	OMIM:253300
Renal Hypodysplasia/Aplasia 4	Respiratory failure, Pulmonary hypoplasia	OMIM:619887
Alpha-1-Antitrypsin Deficiency	Splenomegaly, Chronic bronchitis, Cirrhosis, Gastric varix, Panacinar emphysema, Bronchiectasis, ...	OMIM:613490
Cyanosis, Transient Neonatal	Anemia, Methemoglobinemia, Reticulocytosis	OMIM:613977
Woronets Trait	Red blood cell keratocytosis	OMIM:194320
Immunodeficiency 54	Reduced natural killer cell count, Respiratory insufficiency, Adrenal insufficiency, Splenomegaly...	OMIM:609981
Encephalopathy Due To Prosaposin Deficiency	Respiratory insufficiency, Splenomegaly, Death in infancy, Hepatomegaly, Recurrent respiratory in...	ORPHA:139406
Ciliary Dyskinesia, Primary, 21	Neonatal respiratory distress, Recurrent pneumonia, Bronchiectasis, Atelectasis	OMIM:615294
Acute Interstitial Pneumonia	Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Ground-gl...	ORPHA:79126
Hereditary Butyrylcholinesterase Deficiency	Abnormality of the liver, Respiratory failure, Respiratory failure requiring assisted ventilation	ORPHA:132
Asbestos Intoxication	Abnormal pulmonary interstitial morphology, Atelectasis, Interlobular septal thickening, Ground-g...	ORPHA:2302
Primary Ciliary Dyskinesia	Neonatal respiratory distress, Polysplenia, Atelectasis, Intestinal malrotation, Pulmonary situs ...	ORPHA:244
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Neonatal respiratory distress, Elevated circulating thyroid-stimulating hormone concentration, At...	OMIM:610978
Congenital Amegakaryocytic Thrombocytopenia	Anemia, Abnormal hemoglobin, Thrombocytopenia	ORPHA:3319
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Poikilocytosis, Oval macrocytosis, Anemia of inadequate production, Anisocytosis	OMIM:603529
Hyperinsulinemic Hypoglycemia, Familial, 2	Hyperinsulinemic hypoglycemia, Nesidioblastosis, Pancreatic islet-cell hyperplasia	OMIM:601820
Anemia, Nonspherocytic Hemolytic, Associated With Abnormality Of Red Cell Membrane	Nonspherocytic hemolytic anemia	OMIM:206300
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
6-Phosphogluconolactonase Deficiency	Hemolytic anemia	OMIM:172150
Idiopathic Pulmonary Hemosiderosis	Reticular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Ground-glass opacification, Hep...	ORPHA:99931
Bronchopulmonary Dysplasia	Atelectasis, Emphysema, Abnormal lung morphology, Pulmonary sequestration, Respiratory failure re...	ORPHA:70589
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Recurrent upper respiratory tract infections, Interstitial pneumonitis, Splenomegaly, Anemia, Hep...	OMIM:620296
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Recurrent bronchitis, Atelectasis	OMIM:300455
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Recurrent respiratory infections, Bronchiectasis, Atelectasis	OMIM:619466
Adenosine Triphosphate, Elevated, Of Erythrocytes	Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia	OMIM:102900
Ciliary Dyskinesia, Primary, 33	Recurrent pneumonia, Atelectasis, Recurrent bronchitis, Recurrent lower respiratory tract infecti...	OMIM:616726
Acute Lung Injury	Pneumonia, Diffuse alveolar hemorrhage, Pulmonary infiltrates, Abnormal pulmonary interstitial mo...	ORPHA:178320
Ciliary Dyskinesia, Primary, 29	Recurrent respiratory infections, Situs inversus totalis, Bronchiectasis, Atelectasis	OMIM:615872
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy...	ORPHA:251380
Meconium Aspiration Syndrome	Neonatal asphyxia, Transient pulmonary infiltrates, Atelectasis, Aspiration pneumonia, Pneumothor...	ORPHA:70588
Surfactant Metabolism Dysfunction, Pulmonary, 3	Crazy paving pattern, Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Intraalv...	OMIM:610921
Respiratory Distress Syndrome In Premature Infants	Pulmonary edema, Neonatal respiratory distress, Atelectasis	OMIM:267450
Adult Acute Respiratory Distress Syndrome	Pneumonia, Pulmonary infiltrates, Pulmonary edema, Pancreatitis, Respiratory failure, Diabetic ke...	ORPHA:70578
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Intraalveolar phospholipid accumulation, Respiratory insufficiency, Leukocytosis, Splenomegaly, D...	OMIM:618042
Pulmonary Hypoplasia, Primary	Neonatal death, Pulmonary hypoplasia	OMIM:265430
Sarcoidosis, Susceptibility To, 2	Mediastinal lymphadenopathy, Emphysema, Pleural effusion, Splenomegaly, Pulmonary infiltrates, Pn...	OMIM:612387
Tracheobronchopathia Osteochondroplastica	Pneumonia, Recurrent pneumonia, Bronchitis, Atelectasis, Respiratory insufficiency, Esophagitis, ...	ORPHA:3348
Matthew-Wood Syndrome	Annular pancreas, Duodenal stenosis, Cryptorchidism, Abnormal spleen morphology, Abnormal lung mo...	ORPHA:2470
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Respiratory failure requiring assisted ventilation, Dysphagia, Respiratory failure, Aspiration pn...	ORPHA:90117
Idiopathic Chronic Eosinophilic Pneumonia	Atelectasis, Hypereosinophilia, Pleural effusion, Parenchymal consolidation, Leukocytosis, Abnorm...	ORPHA:2902
Deafness-Lymphedema-Leukemia Syndrome	Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombo...	ORPHA:3226
Niemann-Pick Disease, Type C2	Neonatal respiratory distress, Sea-blue histiocytosis, Respiratory insufficiency, Bone-marrow foa...	OMIM:607625
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Gastroesophageal reflux, Abnormal pulmonary interstitial morphology, Atelectasis, Hilar lymph nod...	OMIM:620233
Recurrent Respiratory Papillomatosis	Recurrent upper respiratory tract infections, Recurrent pneumonia, Atelectasis, Respiratory insuf...	ORPHA:60032
Pneumocystosis	Respiratory insufficiency, Combined cystic and ground-glass pattern on pulmonary HRCT, Interstiti...	ORPHA:723
Combined Oxidative Phosphorylation Deficiency 51	Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia	OMIM:619057
Combined Oxidative Phosphorylation Deficiency 52	Adrenal insufficiency, Hepatic steatosis, Death in infancy, Pancreatitis, Respiratory failure	OMIM:619386
Duodenal Atresia	Abnormality of the pulmonary artery, Annular pancreas, Duodenal atresia, Abnormality of the pancreas	ORPHA:1203
Microphthalmia, Syndromic 12	Intestinal malrotation, Cryptorchidism, Neonatal death, Cleft palate, Pulmonary hypoplasia	OMIM:615524
Surfactant Metabolism Dysfunction, Pulmonary, 1	Neonatal respiratory distress, Absent bronchoalveolar dimeric surfactant-protein B, Intraalveolar...	OMIM:265120
Myotubular Myopathy With Abnormal Genital Development	Atelectasis, Bilateral cryptorchidism, Death in infancy, Neonatal death, Unilateral cryptorchidis...	OMIM:300219
Ciliary Dyskinesia, Primary, 1	Pneumonia, Atelectasis, Situs inversus totalis, Recurrent bronchitis, Asplenia, Communicating hyd...	OMIM:244400
C1Q Deficiency 2	Anemia, Recurrent lower respiratory tract infections, Bronchiectasis, Atelectasis	OMIM:620321
Infant Acute Respiratory Distress Syndrome	Pneumonia, Atelectasis, Respiratory tract infection, Pulmonary edema, Respiratory failure	ORPHA:70587
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset	Death in adolescence, Respiratory failure, Respiratory insufficiency due to muscle weakness	OMIM:300717
Staphylococcal Necrotizing Pneumonia	Pneumonia, Leukopenia, Pleural effusion, Parenchymal consolidation, Leukocytosis, Pulmonary infil...	ORPHA:36238
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia	ORPHA:231401
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Recurrent aspiration pneumonia, Dysphagia, Respiratory failure, Respiratory insufficiency due to ...	ORPHA:2590
Congenital Arthrogryposis With Anterior Horn Cell Disease	Cryptorchidism, Neonatal death, Respiratory insufficiency due to muscle weakness, High palate, Re...	OMIM:611890
Birt-Hogg-Dubé Syndrome	Emphysema, Medullary thyroid carcinoma, Pneumothorax, Parathyroid adenoma, Pulmonary sequestration	ORPHA:122
Pontocerebellar Hypoplasia, Type 1C	Respiratory failure, Death in childhood, Respiratory insufficiency	OMIM:616081
Krabbe Disease, Atypical, Due To Saposin A Deficiency	Respiratory failure, Death in infancy, Respiratory insufficiency	OMIM:611722
Renal-Hepatic-Pancreatic Dysplasia 1	Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrhosis, Polysplenia, Intes...	OMIM:208540
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Neonatal respiratory distress, Dysphagia, Respiratory failure, Pulmonary hypoplasia	OMIM:616867
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Atelectasis, Hepatocellular necrosis, Respiratory insufficiency, Hepatosplenomegaly, Leukocytosis...	OMIM:618278
Ciliary Dyskinesia, Primary, 5	Recurrent pneumonia, Neonatal respiratory distress, Situs inversus totalis, Recurrent sinusitis, ...	OMIM:608647
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification	Emphysema, Cirrhosis, Portal hypertension	OMIM:210050
Hepatic Veno-Occlusive Disease	Hepatomegaly, Jaundice, Respiratory failure	ORPHA:890
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Bronchiolitis, Dysphagia, Atelectasis, Pulmonary fibrosis	ORPHA:254361
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Recurrent pneumonia, Respiratory insufficiency, Respiratory insufficiency due to muscle weakness,...	ORPHA:254875
Surfactant Metabolism Dysfunction, Pulmonary, 2	Recurrent pneumonia, Intralobular septal thickening, Spontaneous pneumothorax, Intraalveolar phos...	OMIM:610913
Short-Rib Thoracic Dysplasia 12	Periportal fibrosis, Pulmonary hypoplasia, Atelectasis, Respiratory insufficiency, Hamartoma of t...	OMIM:269860
Cutis Laxa, Autosomal Recessive, Type Ic	Accessory spleen, Peripheral pulmonary artery stenosis, Gastroesophageal reflux, Recurrent pneumo...	OMIM:613177
Interstitial Pneumonitis, Desquamative, Familial	Recurrent upper respiratory tract infections, Respiratory failure, Desquamative interstitial pneu...	OMIM:263000
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive	Macrocytic dyserythropoietic anemia, Macrocytic anemia	OMIM:619789
Avian Influenza	Pneumonia, Hepatitis, Ground-glass opacification, Lymphopenia, Leukopenia, Pleural effusion, Pulm...	ORPHA:454836
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B	Neonatal death, Pulmonary hypoplasia	OMIM:615228
Zygomycosis	Ileitis, Pulmonary infiltrates, Acute infectious pneumonia, Neutropenia, Air crescent sign, Gastr...	ORPHA:73263
Glycine Encephalopathy 2	Respiratory failure	OMIM:620398
Nemaline Myopathy 8	Dysphagia, Respiratory failure, Death in infancy	OMIM:615348
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A	Dysphagia, Respiratory failure, Respiratory insufficiency	ORPHA:266
Granulomatous Disease, Chronic, X-Linked	Recurrent pneumonia, Lymphadenitis, Atelectasis, Impaired oxidative burst, Pleural effusion, Sple...	OMIM:306400
Scedosporiosis	Pneumonia, Abnormal jejunum morphology, Bronchitis, Apical pulmonary opacity, Pulmonary fibrosis,...	ORPHA:449280
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatic fibrosis, Periportal fibrosis, Portal hypertension, Hepatic cysts, Splenomegaly, Neonatal...	OMIM:263200
Congenital Myopathy 10A, Severe Variant	Gastroesophageal reflux, Respiratory insufficiency, High palate, Dysphagia, Respiratory failure, ...	OMIM:614399
Dubin-Johnson Syndrome	Abnormality of the liver, Abnormal gastric mucosa morphology, Biliary tract abnormality, Hepatome...	ORPHA:234
Farber Disease	Hepatic fibrosis, Recurrent upper respiratory tract infections, Atelectasis, Respiratory insuffic...	ORPHA:333
Familial Nasal Acilia	Recurrent upper respiratory tract infections, Bronchiectasis, Atelectasis	ORPHA:922
Amyotrophic Lateral Sclerosis 28	Dysphagia, Respiratory failure	OMIM:620452
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis	Hemolytic anemia, Anemia of inadequate production, Elliptocytosis	OMIM:166910
Pontocerebellar Hypoplasia, Type 4	Dysphagia, Respiratory failure, Death in infancy	OMIM:225753
Pancreatitis, Hereditary	Exocrine pancreatic insufficiency, Pleural effusion, Pancreatic calcification, Pancreatitis, Stea...	OMIM:167800
Spherocytosis, Type 3	Hemolytic anemia, Spherocytosis	OMIM:270970
T-Cell Immunodeficiency With Thymic Aplasia	Abnormally low T cell receptor excision circle level, Recurrent pneumonia, Emphysema, Lymphopenia...	OMIM:242700
Larsen-Like Syndrome, Lethal Type	Neonatal death, Respiratory insufficiency, Pulmonary hypoplasia	OMIM:245650
Congenital Muscular Dystrophy With Intellectual Disability	Abnormality of the tongue muscle, Respiratory failure, Cryptorchidism, Respiratory insufficiency	ORPHA:370968
Allergic Bronchopulmonary Aspergillosis	Emphysema, Abnormal eosinophil morphology, Bronchiectasis, Respiratory insufficiency	ORPHA:1164
Combined Oxidative Phosphorylation Deficiency 8	Neonatal death, Death in childhood, Death in infancy, Pulmonary hypoplasia	OMIM:614096
Renal-Hepatic-Pancreatic Dysplasia 2	Malformation of the hepatic ductal plate, Hepatic fibrosis, Abnormal lung lobation, Cholestasis, ...	OMIM:615415
Emphysema, Hereditary Pulmonary	Emphysema, Chronic bronchitis	OMIM:130700
Renal Hypodysplasia/Aplasia 2	Pulmonary hypoplasia	OMIM:615721
Mitochondrial Complex I Deficiency, Nuclear Type 35	Neonatal death, Neonatal respiratory distress, Pulmonary hypoplasia	OMIM:619003
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related	Respiratory failure, Death in infancy, Respiratory insufficiency	OMIM:613869
Developmental And Epileptic Encephalopathy 71	Respiratory failure, Respiratory insufficiency	OMIM:618328
Whim Syndrome	Pneumonia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Lymphadenitis, Atel...	ORPHA:51636
Autosomal Recessive Polycystic Kidney Disease	Cholestasis, Hepatosplenomegaly, Hypersplenism, Congenital hepatic fibrosis, Hepatoblastoma, Jaun...	ORPHA:731
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Emphysema, Ground-glass opacification, Respiratory tract infection, Chronic bronchitis, Diffuse r...	ORPHA:79127
Oculopharyngeal Myopathy With Leukoencephalopathy 1	Gastrointestinal dysmotility, Dysphagia, Respiratory failure	OMIM:618637
Congenital Myopathy 14	High palate, Respiratory failure, Death in infancy, Respiratory insufficiency due to muscle weakness	OMIM:618414
Alpha-1-Antitrypsin Deficiency	Hepatitis, Bronchitis, Cholestasis, Emphysema, Cirrhosis, Hepatomegaly, Jaundice, Bronchiectasis,...	ORPHA:60
Pallister-Hall-Like Syndrome	Microglossia, Occipital encephalocele, Death in infancy, Hydrocephalus, Anterior hypopituitarism,...	OMIM:241800
Acrocephalopolydactylous Dysplasia	Hepatic fibrosis, Polysplenia, Hypoplastic colon, Pancreatic fibrosis, Hepatomegaly, Hypoplasia o...	OMIM:200995
Pyropoikilocytosis, Hereditary	Hemolytic anemia, Microspherocytosis, Pyropoikilocytosis, Elliptocytosis	OMIM:266140
Ciliary Dyskinesia, Primary, 53	Recurrent pneumonia, Abdominal situs inversus, Polysplenia, Respiratory insufficiency, Situs inve...	OMIM:620642
Reynolds Syndrome	Gastroesophageal reflux, Xerostomia, Respiratory insufficiency, Abnormal gastric mucosa morpholog...	ORPHA:779
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Respiratory failure, Gastroesophageal reflux, Dysphagia, Hepatic steatosis	ORPHA:70472
Hyperekplexia 4	High palate, Respiratory failure, Umbilical hernia	OMIM:618011
Ovalocytosis, Southeast Asian	Hemolytic anemia, Elliptocytosis	OMIM:166900
Common Variable Immunodeficiency	Pneumonia, Recurrent respiratory infections, Emphysema, Lymphopenia, Abnormality of the liver, Re...	ORPHA:1572
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability	Respiratory failure	OMIM:600561
Anemia, Congenital Dyserythropoietic, Type Iv	Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato...	OMIM:613673
Lethal Osteosclerotic Bone Dysplasia	Median cleft palate, Respiratory failure	ORPHA:1832
Polyposis of gastric fundus without polyposis coli	Multiple gastric polyps, Abnormal gastric mucosa morphology	OMIM:175505
Congenital Myopathy 21 With Early Respiratory Failure	Lipoid pneumonia, Respiratory failure	OMIM:620326
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Elevated red cell adenosine deaminase activity, Increased mean corpuscular volume, Macrocytic ane...	OMIM:300946
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Intestinal malrotation, Aqueductal stenosis, Splenomegaly, Pulmonary hypoplasia	ORPHA:3035
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Reduced erythrocyte adenosine triphosphate concentration, Stomatocytosis, Erythroid hyperplasia, ...	OMIM:301083
Alpha-Thalassemia	Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenomegaly, Hypersplen...	ORPHA:846
3-Methylglutaconic Aciduria Type 7	Bone marrow hypocellularity, Infection associated neutropenia, Hepatic steatosis, Hypothyroidism,...	ORPHA:445038
Leigh Syndrome, Nuclear	Respiratory insufficiency, Respiratory failure, Hepatocellular necrosis	OMIM:256000
Pulmonary Alveolar Microlithiasis	Bronchitis, Interlobular septal thickening, Subpleural interstitial thickening, Ground-glass opac...	ORPHA:60025
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Neonatal respiratory distress, Respiratory insufficiency, Death in childhood, Death in infancy, N...	OMIM:245400
Dietary Iron Overload Disease	Hepatic bridging fibrosis, Hepatic fibrosis, Abnormal thyroid morphology, Hepatitis, Abnormal pan...	ORPHA:139507
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Pulmonary hypoplasia, Cleft palate, Abnormal lung lobation	ORPHA:2631
Triosephosphate Isomerase Deficiency	Normocytic anemia, Cholelithiasis, Respiratory insufficiency, Cholecystitis, Splenomegaly, Macroc...	OMIM:615512
Lymphangioleiomyomatosis	Gastrointestinal hemorrhage, Chylothorax, Atelectasis, Emphysema, Pulmonary lymphangiomyomatosis,...	ORPHA:538
Erythrocytosis, Familial, 3	Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass	OMIM:609820
Dextrocardia	Meckel diverticulum, Abnormality of abdominal situs, Pancreatic hypoplasia, Abnormal lung lobatio...	ORPHA:1666
Severe Neurodegenerative Syndrome With Lipodystrophy	Hyperinsulinemia, Hepatic steatosis, Cirrhosis, Hepatomegaly, Respiratory failure	ORPHA:363400
Mirage Syndrome	Gastroesophageal reflux, Aspiration pneumonia, Decreased testicular size, Adrenal insufficiency, ...	OMIM:617053
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Respiratory insufficiency, Respiratory tract infection, Respiratory insufficiency due to muscle w...	ORPHA:308552
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Type I diabetes mellitus, Emphysema, Lymphopenia, Portal hypertension, Cryptorchidism, Thrombocyt...	OMIM:620365
Meckel Syndrome, Type 6	Hepatic fibrosis, Pulmonary hypoplasia, Occipital encephalocele, Absent gallbladder, Hepatic cyst...	OMIM:612284
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism	Adrenal hypoplasia, Pulmonary hypoplasia	OMIM:613124
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Hydranencephaly, Hepatic sinusoidal dilatation, Atelectasis, Respiratory insufficiency, Splenic c...	OMIM:620371
Vacterl Association With Hydrocephalus	Respiratory insufficiency, Hydrocephalus, Stillbirth, Aqueductal stenosis, Anal atresia, Respirat...	OMIM:276950
Idiopathic Bronchiectasis	Emphysema, Respiratory tract infection, Acute infectious pneumonia, Recurrent lower respiratory t...	ORPHA:60033
Malignant Atrophic Papulosis	Gastrointestinal hemorrhage, Intestinal fistula, Gastrointestinal infarctions, Pleural effusion, ...	ORPHA:679
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Respiratory insufficiency, Death in infancy, Hyperhidrosis, Hepatomegaly, Respiratory failure	OMIM:614299
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Nodular regenerative hyperplasia of liver, Usual interstitial pneumonia, Increased mean corpuscul...	OMIM:620367
Combined Oxidative Phosphorylation Deficiency 28	Respiratory failure	OMIM:616794
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities	Pulmonary hypoplasia, Absent uvula	OMIM:616531
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Intestinal malrotation, Testicular atrophy, Pulmonary hypoplasia	OMIM:601163
Waardenburg Syndrome Type 3	Atelectasis	ORPHA:896
Ceroid Lipofuscinosis, Neuronal, 10	Neonatal death, Respiratory failure, Respiratory insufficiency	OMIM:610127
Immunodeficiency 60 And Autoimmunity	Decreased proportion of memory B cells, Bronchiectasis, Pancytopenia, Splenomegaly, Crohn's disea...	OMIM:618394
Combined Oxidative Phosphorylation Deficiency 11	Hepatic steatosis, Death in childhood, Neonatal death, Death in infancy, Stillbirth, Hepatomegaly...	OMIM:614922
Erythrocytosis, Familial, 7	Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia	OMIM:617981
Erythrocytosis, Familial, 6	Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia	OMIM:617980
Perlman Syndrome	High, narrow palate, Abnormal pancreas morphology, Hyperinsulinemia, Cryptorchidism, Hepatomegaly	ORPHA:2849
Microphthalmia, Syndromic 9	Agenesis of pulmonary vessels, Multilobulated spleen, Respiratory insufficiency, Alveolar capilla...	OMIM:601186
Nephronophthisis 2	Respiratory insufficiency, Situs inversus totalis, Respiratory failure, Pulmonary hypoplasia	OMIM:602088
Combined Oxidative Phosphorylation Deficiency 4	Hepatomegaly, Respiratory failure, Death in infancy	OMIM:610678
Martinez-Frias Syndrome	Annular pancreas, Pancreatic hypoplasia, Intestinal malrotation, Jejunal atresia, Tracheoesophage...	OMIM:601346
Bone Marrow Failure Syndrome 6	Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia	OMIM:618849
Lymphatic Malformation 12	Neonatal respiratory distress, Neonatal death, Death in adolescence, Pleural thickening, Hydrocel...	OMIM:620014
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Respiratory failure, Death in infancy	OMIM:616277
Spondylometaphyseal Dysplasia, X-Linked	Respiratory failure, Respiratory insufficiency	OMIM:313420
Atelosteogenesis, Type Ii	Respiratory insufficiency, Death in infancy, Stillbirth, Cleft palate, Pulmonary hypoplasia	OMIM:256050
Brain-Lung-Thyroid Syndrome	Recurrent pneumonia, Neonatal respiratory distress, Elevated circulating thyroid-stimulating horm...	ORPHA:209905
Dyssegmental Dysplasia, Silverman-Handmaker Type	Occipital encephalocele, Respiratory insufficiency, Cryptorchidism, Neonatal death, Pulmonary hyp...	OMIM:224410
Lethal Congenital Contracture Syndrome 11	Pulmonary hypoplasia	OMIM:617194
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Hepatomegaly, Respiratory failure, Cryptorchidism, Death in infancy	ORPHA:1194
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Hydrocephalus, Pulmonary hypoplasia	OMIM:618174
1Q41Q42 Microdeletion Syndrome	Cryptorchidism, Submucous cleft hard palate, Hyposegmentation of neutrophil nuclei, Holoprosencep...	ORPHA:250999
Cystic Echinococcosis	Cholestatic liver disease, Peritoneal abscess, Pulmonary cyst, Abnormality of the testis size, He...	ORPHA:400
Annular Pancreas	Annular pancreas, High intestinal obstruction, Duodenal stenosis	ORPHA:675
Pancreas, Annular	Annular pancreas, High intestinal obstruction, Duodenal stenosis	OMIM:167750
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Atrophic gastritis, Recurrent upper respiratory tract infections, Lymphopenia, Lymphocytic infilt...	OMIM:616100
Hypophosphatasia	Emphysema, Anemia, Respiratory insufficiency	ORPHA:436
Ménétrier Disease	Gastrointestinal hemorrhage, Gastroesophageal reflux, Stomach cancer, Abnormal gastric mucosa mor...	ORPHA:2494
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Atrophic gastritis, Pneumonia, Inflammation of the large intestine, Recurrent upper respiratory t...	ORPHA:436159
Atelosteogenesis Type I	Pulmonary hypoplasia, Malrotation of colon, Cleft palate, Abnormal pancreatic duct morphology	ORPHA:1190
Congenital Multicore Myopathy With External Ophthalmoplegia	Pneumonia, Recurrent respiratory infections, Cryptorchidism, High palate, Respiratory failure	ORPHA:98905
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome	Neonatal death, Bilateral lung agenesis, Respiratory insufficiency	OMIM:601612
Joubert Syndrome 21	Occipital encephalocele, Splenomegaly, Encephalocele, Dysphagia, Respiratory failure, Pulmonary h...	OMIM:615636
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Hepatic fibrosis, Respiratory insufficiency, Death in infancy, Bile duct proliferation, Pancreati...	OMIM:208500
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect	High palate, Stillbirth, Pulmonary hypoplasia	OMIM:617468
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Gastroesophageal reflux, Atelectasis, Respiratory insufficiency, Protruding tongue, Recurrent low...	ORPHA:258
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Respiratory failure, Tongue atrophy, Dysphagia	OMIM:613435
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency	Atelectasis, Recurrent respiratory infections, Cleft palate, Eosinophilia	ORPHA:2314
Intermediate Nemaline Myopathy	High, narrow palate, Dysphagia, Respiratory failure	ORPHA:171433
Hb Bart'S Hydrops Fetalis	Anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:163596
Snakebite Envenomation	Neuromuscular dysphagia, Pseudobulbar paralysis, Hypopituitarism, Thrombocytopenia, Respiratory f...	ORPHA:449285
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Recurrent respiratory infections, Respiratory failure, Aplasia/Hypoplasia of the tongue	ORPHA:2759
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Jaundice, Megaloblastic anemia, Respiratory failure, Neutropenia	OMIM:250940
Congenital Lobar Emphysema	Emphysema	ORPHA:1928
Lujo Hemorrhagic Fever	Atelectasis, Lymphopenia, Leukopenia, Leukocytosis, Hyperhidrosis, Thrombocytopenia, Fulminant he...	ORPHA:319213
Beta-Thalassemia	Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia	ORPHA:848
Mitchell-Riley Syndrome	Meckel diverticulum, Annular pancreas, Anteriorly placed anus, Pancreatic hypoplasia, Intestinal ...	OMIM:615710
Fetal Akinesia Deformation Sequence	Respiratory insufficiency, Cryptorchidism, Intestinal hypoplasia, Cleft palate, Pulmonary hypoplasia	ORPHA:994
Multiple Mitochondrial Dysfunctions Syndrome 3	High palate, Respiratory failure, Respiratory insufficiency	OMIM:615330
Neuropathy, Congenital Hypomyelinating, 3	Gastroesophageal reflux, Respiratory insufficiency, Neonatal death, High palate, Narrow palate, R...	OMIM:618186
Severe Congenital Nemaline Myopathy	Dysphagia, Respiratory failure, Pulmonary hypoplasia	ORPHA:171430
Maternal Uniparental Disomy Of Chromosome 2	Neonatal respiratory distress, Bilateral cryptorchidism, Decreased response to growth hormone sti...	ORPHA:96179
Pentalogy Of Cantrell	Polysplenia, Absent gallbladder, Encephalocele, Hydrocephalus, Anencephaly, Cleft palate, Pulmona...	ORPHA:1335
Arthrogryposis Multiplex Congenita 6	Death in infancy, Respiratory failure, Death in childhood, Neonatal death	OMIM:619334
Congenital Myopathy 10B, Mild Variant	Recurrent pneumonia, High palate, Dysphagia, Respiratory failure, Cleft palate	OMIM:620249
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Epidermodysplasia Verruciformis, Susceptibility To, 4	Emphysema, Increased proportion of exhausted T cells	OMIM:618307
Glycogen Storage Disease Due To Acid Maltase Deficiency	Atelectasis, Respiratory insufficiency, Respiratory tract infection, Respiratory insufficiency du...	ORPHA:365
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Respiratory failure, Pulmonary hypoplasia	OMIM:617895
Gracile Bone Dysplasia	Ankyloglossia, Death in infancy, Hydrocephalus, Asplenia, Hypoplastic spleen	OMIM:602361
Renal Tubular Dysgenesis	Pulmonary hypoplasia	ORPHA:3033
Peroxisome Biogenesis Disorder 4A (Zellweger)	Hepatomegaly, Respiratory failure, Death in infancy	OMIM:614862
Congenital Myopathy 1B, Autosomal Recessive	Respiratory insufficiency, High palate, Recurrent respiratory infections, Pulmonary hypoplasia	OMIM:255320
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Pancreatic fibrosis, Pulmonary hypoplasia	OMIM:615503
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Gastroesophageal reflux, Intestinal malrotation, Cryptorchidism, Mesenteric cyst, Pulmonary arter...	OMIM:618316
Lissencephaly Syndrome, Norman-Roberts Type	Dysphagia, Hypoplastic spleen	ORPHA:89844
22Q11.2 Deletion Syndrome	Cryptorchidism, Hypoparathyroidism, Anal atresia, Gastrointestinal hemorrhage, Gastroesophageal r...	ORPHA:567
Cutis Laxa, Neonatal, With Marfanoid Phenotype	Emphysema	OMIM:614100
Rajab Interstitial Lung Disease With Brain Calcifications 1	Gastroesophageal reflux, Respiratory insufficiency, Intestinal malrotation, Cholestasis, Emphysem...	OMIM:613658
Mhc Class I Deficiency 1	Emphysema, Bronchiectasis, Bronchiolitis, Recurrent bronchitis	OMIM:604571
Alg1-Cdg	Protein-losing enteropathy, Abnormality of the gastrointestinal tract, Respiratory failure	ORPHA:79327
Tonne-Kalscheuer Syndrome	Velopharyngeal insufficiency, Decreased testicular size, Cryptorchidism, Dysphagia, Pulmonary hyp...	OMIM:300978
Multiple Acyl-Coa Dehydrogenase Deficiency	Cardiorespiratory arrest, Hepatic periportal necrosis, Dysphagia, Hepatomegaly, Acute pancreatiti...	ORPHA:26791
Cutis Laxa-Marfanoid Syndrome	Emphysema	ORPHA:171719
Muscular Dystrophy, Congenital, 1B	Respiratory failure	OMIM:604801
Ciliary Dyskinesia, Primary, 20	Recurrent pneumonia, Atelectasis, Situs inversus totalis, Recurrent sinusitis, Atrial situs inver...	OMIM:615067
Osteopetrosis, Autosomal Recessive 5	Stillbirth, Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenom...	OMIM:259720
Hypocomplementemic Urticarial Vasculitis	Emphysema, Pleural effusion, Splenomegaly, Lymphadenopathy, Hepatomegaly	ORPHA:36412
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Neonatal death, Tracheoesophageal fistula, Esophageal atresia, Hydrocephalus, Anal atresia, Isome...	OMIM:314390
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Dysphagia, Respiratory failure, Hypergonadotropic hypogonadism, Respiratory insufficiency due to ...	ORPHA:352447
Gillessen-Kaesbach-Nishimura Syndrome	Pulmonary hypoplasia, Periportal fibrosis, Abnormal lung lobation	OMIM:263210
Alg3-Cdg	Abnormality of the endocrine system, Abnormality of the gastrointestinal tract, Macroglossia, Hig...	ORPHA:79321
Immunodeficiency, Common Variable, 8, With Autoimmunity	Inflammation of the large intestine, Pancytopenia, Autoimmune thrombocytopenia, Chronic neutropen...	OMIM:614700
Czeizel-Losonci Syndrome	Myelomeningocele, Hypoplastic nipples, Tracheoesophageal fistula, Hydrocephalus, Spina bifida, Sp...	ORPHA:2437
Digeorge Syndrome	Hepatic steatosis, Ovarian cyst, High palate, High, narrow palate, Cholelithiasis, Gastroesophage...	OMIM:188400
Congenital Neuronal Ceroid Lipofuscinosis	Neonatal respiratory distress, Respiratory failure	ORPHA:168486
Nk-Cell Enteropathy	Hematochezia, Colonic diverticula, Gastroesophageal reflux, Stercoral ulcer, Abnormal gastric muc...	ORPHA:263665
Proximal Spinal Muscular Atrophy	Neonatal respiratory distress, Gastroesophageal reflux, Recurrent infections due to aspiration, I...	ORPHA:70
Pagod Syndrome	Pulmonary artery hypoplasia, Abnormality of the spleen, Situs inversus totalis, Encephalocele, Ab...	ORPHA:991
Bloom Syndrome	Pneumonia, Gastroesophageal reflux, Recurrent tonsillitis, Bronchitis, Neoplasm of the colon, Sto...	ORPHA:125
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Neonatal death, Hydranencephaly, Stillbirth, Pulmonary hypoplasia	OMIM:236500
Nocardiosis	Pneumonia, Lymphadenitis, Emphysema, Pleural effusion, Peritonitis, Pneumothorax, Abnormality of ...	ORPHA:31204
Geleophysic Dysplasia 3	Hepatomegaly, Pneumonia, Respiratory failure	OMIM:617809
Riddle Syndrome	Pneumonia, Neonatal asphyxia, Recurrent pneumonia, Bronchitis, Recurrent sinusitis, Generalized l...	ORPHA:420741
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Death in childhood, Anemia, Respiratory insufficiency due to muscle weakness, Hepatomegaly, High ...	OMIM:220110
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Pulmonary hypoplasia	ORPHA:2141
Boutonneuse Fever	Cervical lymphadenopathy, Leukopenia, Lymphadenopathy, Thrombocytopenia, Respiratory failure	ORPHA:83313
Pericardial And Diaphragmatic Defect	Neonatal respiratory distress, Meckel diverticulum, Intestinal malrotation, Abnormal gastrointest...	ORPHA:2847
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Respiratory failure, Anomalous pulmonary venous return, Respiratory failure requiri...	ORPHA:555874
Mitochondrial Complex I Deficiency, Nuclear Type 18	Respiratory failure, Death in infancy	OMIM:618240
Dyssegmental Dysplasia, Silverman-Handmaker Type	Respiratory insufficiency, Encephalocele, Cryptorchidism, Hydrocephalus, Miscarriage, Cleft palat...	ORPHA:1865
Achondrogenesis Type 2	Cardiorespiratory arrest, Pulmonary hypoplasia	ORPHA:93296
Pyruvate Dehydrogenase E1-Alpha Deficiency	Respiratory failure	OMIM:312170
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Neonatal respiratory distress, Respiratory insufficiency, Death in infancy, Lipid accumulation in...	OMIM:608836
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Macroglossia, Dysphagia, Respiratory failure	OMIM:606612
Congenital Diaphragmatic Hernia	Intestinal malrotation, Pulmonary hypoplasia	ORPHA:2140
Lethal Congenital Contracture Syndrome 1	Neonatal death, Pulmonary hypoplasia	OMIM:253310
Ullrich Congenital Muscular Dystrophy	Respiratory failure	ORPHA:75840
Immunodeficiency 57 With Autoinflammation	Inflammation of the large intestine, Reduced natural killer cell count, Perianal abscess, Gastrit...	OMIM:618108
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Congenital pulmonary airway malformation, Bilateral lung agenesis, Adrenal gland agenesis, Pulmon...	OMIM:611812
Feingold Syndrome	Abnormality of the spleen, Esophageal atresia, Duodenal atresia, Annular pancreas	ORPHA:1305
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Atelectasis, Respiratory insufficiency, Hydrocephalus, High palate, Repeated pneumothoraces, Pulm...	ORPHA:536467
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatic periportal necrosis, Hepatic steatosis, Neonatal death, Hepatomegaly, Jaundice, Pulmonary...	OMIM:231680
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Dysphagia, Respiratory failure	OMIM:613954
Primary Pulmonary Hypoplasia	Abnormal pulmonary artery morphology, Neonatal respiratory distress, Pneumothorax, Recurrent resp...	ORPHA:2257
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Respiratory failure, Dysphagia, Cryptorchidism, Death in childhood	OMIM:619847
Neuromyelitis Optica Spectrum Disorder	Respiratory failure	ORPHA:71211
Thanatophoric Dysplasia	Respiratory insufficiency, Hydrocephalus, Pulmonary hypoplasia	ORPHA:2655
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Reduced natural killer cell count, Hypoplasia of the thymus, Impaired lymphocyte transformation w...	OMIM:619313
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Chylothorax, Death in childhood, Death in infancy, High palate, Dysphagia, Respiratory failure	OMIM:620278
Mixed Connective Tissue Disease	Gastrointestinal hemorrhage, Gastroesophageal reflux, Xerostomia, Mediastinal lymphadenopathy, He...	ORPHA:809
Sarcoidosis, Susceptibility To, 1	Inflammation of the large intestine, Enlarged lacrimal glands, Mediastinal lymphadenopathy, Emphy...	OMIM:181000
Mitochondrial Trifunctional Protein Deficiency	Respiratory insufficiency, Cholestasis, Hypoparathyroidism, Respiratory failure, Diffuse hepatic ...	ORPHA:746
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Pulmonary cyst, Eosinophilic infiltration of the esophagus, High palate, Duodenal ulcer, Dysphagi...	OMIM:147060
Mitochondrial Trifunctional Protein Deficiency 1	Cholestasis, Respiratory failure, Respiratory insufficiency	OMIM:609015
Meckel Syndrome 14	Hepatic fibrosis, Cardiorespiratory arrest, Occipital encephalocele, Pneumothorax, Holoprosenceph...	OMIM:619879
S-Adenosylhomocysteine Hydrolase Deficiency	Abnormality of the liver, Respiratory failure, Hepatocellular carcinoma	ORPHA:88618
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Anemia, Respiratory failure, Death in childhood	OMIM:615838
Meacham Syndrome	Accessory spleen, Scimitar anomaly, Congenital alveolar dysplasia, Death in childhood, Neonatal d...	OMIM:608978
Multiple Mitochondrial Dysfunctions Syndrome 1	Neonatal death, Respiratory failure, Death in infancy, Respiratory insufficiency	OMIM:605711
Thanatophoric Dysplasia, Type I	Neonatal death, Neonatal respiratory distress, Hydrocephalus, Pulmonary hypoplasia	OMIM:187600
Car T Cell Therapy-Associated Cytokine Release Syndrome	Pulmonary edema, Pleural effusion, Respiratory failure	ORPHA:542323
Spondylospinal Thoracic Dysostosis	Pulmonary hypoplasia	OMIM:601809
Igg4-Related Thyroid Disease	Graves disease, Euthyroid goiter, Goiter, Sialadenitis, Sclerosing cholangitis, Hashimoto thyroid...	ORPHA:64744
Niemann-Pick Disease Type C	Aspiration pneumonia, Respiratory insufficiency, Hepatosplenomegaly, Abnormality of the liver, Sp...	ORPHA:646
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Respiratory insufficiency, Pancytopenia, Leukopenia, Thrombocytopenia, Anemia, Diabetes mellitus,...	OMIM:613845
Oculocerebrorenal Syndrome Of Lowe	Hyperparathyroidism, Gastroesophageal reflux, Abnormal circulating calcium-phosphate regulating h...	ORPHA:534
Agnathia-Otocephaly Complex	Microglossia, Aglossia, Situs inversus totalis, Holoprosencephaly, Cleft palate, Pulmonary hypopl...	OMIM:202650
Congenital Alveolar Capillary Dysplasia	Annular pancreas, Volvulus, Duodenal stenosis, Intestinal malrotation, Absent gallbladder, Agangl...	ORPHA:210122
Gaucher Disease, Perinatal Lethal	Hepatosplenomegaly, Splenomegaly, Neonatal death, Anemia, Thrombocytopenia, Hepatomegaly, Dysphag...	OMIM:608013
Oculogastrointestinal Muscular Dystrophy	Spontaneous esophageal perforation, Abnormality of the gastrointestinal tract, Intestinal pseudo-...	ORPHA:1876
Pontocerebellar Hypoplasia Type 1	Respiratory failure	ORPHA:2254
Autoimmune Polyendocrinopathy Type 3	Atrophic gastritis, Thymoma, Aplasia/Hypoplasia of the spleen, Biliary cirrhosis, Xerostomia, Hep...	ORPHA:227982
Diaphanospondylodysostosis	Respiratory insufficiency, Pulmonary hypoplasia, Cleft palate, Abnormal liver lobulation	OMIM:608022
Tropical Pancreatitis	Insulin-dependent but ketosis-resistant diabetes, Pancreatic adenocarcinoma, Chronic calcifying p...	ORPHA:103918
Listeriosis	Pneumonia, Cholecystitis, Peritonitis, Hepatic granulomatosis, Splenic abscess, Granulomatosis, M...	ORPHA:533
Muscular Dystrophy, Congenital, With Or Without Seizures	Type I diabetes mellitus, Dysphagia, Respiratory failure	OMIM:620166
Coenzyme Q10 Deficiency, Primary, 8	Pulmonary hypoplasia	OMIM:616733
Combined Oxidative Phosphorylation Deficiency 37	Macrovesicular hepatic steatosis, Respiratory failure, Bile duct proliferation, Respiratory insuf...	OMIM:618329
Ziegler-Huang Syndrome	Neutropenia, Macrocytic anemia, Persistence of hemoglobin F	OMIM:620501
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Ventilator dependence with inability to wean, Respiratory failure, Hyperhidrosis	OMIM:604320
Shwachman-Diamond Syndrome 2	Normocytic anemia, Exocrine pancreatic insufficiency, Death in childhood, Death in infancy, Hyper...	OMIM:617941
Tuberous Sclerosis Complex	Pituitary adenoma, Pheochromocytoma, Pulmonary lymphangiomyomatosis, Hepatic cysts, Respiratory t...	ORPHA:805
Autoimmune Polyendocrinopathy Type 4	Atrophic gastritis, Thymoma, Aplasia/Hypoplasia of the spleen, Biliary cirrhosis, Xerostomia, Hep...	ORPHA:227990
Fryns Syndrome	Meckel diverticulum, Chylothorax, Polysplenia, Intestinal malrotation, Cryptorchidism, Aganglioni...	OMIM:229850
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Spina bifida occulta, Respiratory failure, Respiratory insufficiency due to muscle weakness	OMIM:618291
Mercury Poisoning	Interstitial pneumonitis, Respiratory failure	ORPHA:330021
Kagami-Ogata Syndrome	Hepatomegaly, Splenomegaly, Pulmonary hypoplasia	OMIM:608149
Pearson Syndrome	Pancytopenia, Hepatic steatosis, Neutropenia, Hypoparathyroidism, Hepatomegaly, Hypoplastic splee...	ORPHA:699
Sickle Cell Anemia	Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo...	ORPHA:232
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Neonatal respiratory distress, Hypohidrosis, High palate, Dysphagia, Pulmonary hypoplasia	OMIM:616866
Immunodeficiency 89 And Autoimmunity	Crohn's disease, Pulmonary bulla, Hypochromic microcytic anemia, Pleural thickening, Recurrent lo...	OMIM:619632
Fanconi Renotubular Syndrome 5	Emphysema, Pulmonary fibrosis, Lung adenocarcinoma	OMIM:618913
Marden-Walker Syndrome	High, narrow palate, Pulmonary hypoplasia, Cryptorchidism, Zollinger-Ellison syndrome, High palat...	OMIM:248700
Congenital Tracheomalacia	Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, Ga...	ORPHA:95430
Serkal Syndrome	Malrotation of small bowel, Abnormality of the adrenal glands, Pulmonary hypoplasia	ORPHA:139466
Postsynaptic Congenital Myasthenic Syndromes	High palate, Respiratory failure	ORPHA:98913
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Narrow palate, Respiratory failure	OMIM:616505
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency	Neonatal respiratory distress, Intraalveolar phospholipid accumulation, Spontaneous neonatal pneu...	ORPHA:217563
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Hepatic fibrosis, Microglossia, Hamartoma of tongue, Intestinal malrotation, Pancreatic fibrosis,...	OMIM:263520
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Cervical myelopathy, Myelopathy, Respiratory failure, Death in childhood	OMIM:617186
Stormorken Syndrome	Howell-Jolly bodies, Thrombocytopenia, Anemia, Asplenia, Hypoplastic spleen	OMIM:185070
Spinocerebellar Ataxia Type 1	Dysphagia, Respiratory failure	ORPHA:98755
Metatropic Dysplasia	Respiratory failure, Respiratory insufficiency	OMIM:156530
Lethal Congenital Contracture Syndrome 10	Hypoplasia of the thymus, High palate, Macroglossia, Narrow palate, Pulmonary hypoplasia	OMIM:617022
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Microcolon, Pulmonary hypoplasia, Ileal atresia, Peritonitis, Respiratory failure requiring assis...	OMIM:619351
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Congenital shortened small intestine, Neonatal respiratory distress, Meckel diverticulum, Annular...	OMIM:265380
Renal Tubular Dysgenesis	Respiratory insufficiency, Pulmonary hypoplasia	OMIM:267430
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Pulmonary hypoplasia, Respiratory insufficiency, Hamartoma of tongue, Cryptorchidism, Encephaloce...	OMIM:616300
Relapsing Polychondritis	Atelectasis, Hepatitis, Anteriorly placed anus	ORPHA:728
Nijmegen Breakage Syndrome	Recurrent pneumonia, Anal stenosis, Acute leukemia, Recurrent respiratory infections, Autoimmune ...	ORPHA:647
Pancreatic Agenesis 2	Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Steatorrhea, Diabetes mellitus, Pancrea...	OMIM:615935
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Hepatic fibrosis, Short uvula, High palate, Cleft palate, Pulmonary hypoplasia	OMIM:614091
Chromosome 1Q41-Q42 Deletion Syndrome	Supernumerary nipple, Cryptorchidism, High palate, Holoprosencephaly, Cleft palate, Pulmonary hyp...	OMIM:612530
Mitochondrial Complex I Deficiency, Nuclear Type 10	Dysphagia, Respiratory failure	OMIM:618233
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Inflammation of the large intestine, Interstitial emphysema, Lymphopenia, Absent uvula, Intestina...	OMIM:619708
Fraser Syndrome 2	Intestinal malrotation, Hypoplasia of the thymus, Rectal atresia, Anal atresia, Respiratory failure	OMIM:617666
Tetraamelia Syndrome 1	Adrenal gland agenesis, Hydrocephalus, Asplenia, Anal atresia, Peripheral pulmonary vessel aplasi...	OMIM:273395
Meier-Gorlin Syndrome 4	Emphysema, Breast hypoplasia, Cryptorchidism	OMIM:613804
Arterial Tortuosity Syndrome	Gastroesophageal reflux, Cardiorespiratory arrest, Esophagitis, Median cleft palate, Hiatus herni...	ORPHA:3342
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Recurrent pneumonia, Dysphagia, Respiratory failure, Respiratory failure requiring assisted venti...	ORPHA:496641
Chromosome 13Q33-Q34 Deletion Syndrome	Pulmonary hypoplasia, Anteriorly placed anus, Cryptorchidism, Encephalocele, Anal atresia, High p...	OMIM:619148
Vacterl With Hydrocephalus	Cryptorchidism, Tracheoesophageal fistula, Esophageal atresia, Hydrocephalus, Spina bifida, Aqued...	ORPHA:3412
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Hydrocephalus, Gastroesophageal reflux, Respiratory failure, Neonatal death	OMIM:616482
Peroxisome Biogenesis Disorder 1A (Zellweger)	High, narrow palate, Neonatal respiratory distress, Protruding tongue, Cryptorchidism, Intrahepat...	OMIM:214100
Sandestig-Stefanova Syndrome	High palate, Respiratory failure	OMIM:618804
Caudal Regression Syndrome	Anal atresia, Maternal diabetes, Cryptorchidism, Pulmonary hypoplasia	ORPHA:3027
Chand Syndrome	Bifid tongue, Atelectasis, Hypohidrosis, Cleft palate	ORPHA:1401
Radio-Renal Syndrome	High, narrow palate, Chylothorax, Pleural effusion, Respiratory failure	ORPHA:3015
Central Hypoventilation Syndrome, Congenital, 3	Respiratory failure	OMIM:619483
Combined Oxidative Phosphorylation Deficiency 3	Respiratory insufficiency, Death in childhood, Death in infancy, Hepatomegaly, Respiratory failure	OMIM:610505
Autosomal Recessive Multiple Pterygium Syndrome	Neonatal respiratory distress, Umbilical hernia, Hypogonadism, Cryptorchidism, Abnormal gastroint...	ORPHA:2990
Odontochondrodysplasia 1	Recurrent respiratory infections, Death in infancy, Pulmonary hypoplasia	OMIM:184260
Diamond-Blackfan Anemia 6	Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F	OMIM:612561
Abetalipoproteinemia	Hepatic fibrosis, Acanthocytosis, Hepatic steatosis, Reticulocytosis, Hepatomegaly, Anemia, Cirrh...	ORPHA:14
Thoracic Dysplasia-Hydrocephalus Syndrome	Communicating hydrocephalus, Respiratory failure	ORPHA:1861
3-Methylglutaconic Aciduria, Type Viii	Death in infancy, Neonatal death, Respiratory arrest, Neutropenia, Jaundice, Dysphagia, Respirato...	OMIM:617248
Greenberg Dysplasia	Bone marrow hypocellularity, Abnormal lung lobation, Hepatosplenomegaly, Large placenta, Pancreat...	OMIM:215140
Poliomyelitis	Paralytic ileus, Absent tonsils, Dysphagia, Respiratory failure, Respiratory failure requiring as...	ORPHA:2912
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Respiratory failure, Cryptorchidism	OMIM:620327
Esophageal Atresia	Barrett esophagus, Gastrointestinal carcinoma, Gastroesophageal reflux, Pulmonary hypoplasia, Bro...	ORPHA:1199
Lethal Congenital Contracture Syndrome Type 1	Pulmonary hypoplasia	ORPHA:1486
Fryns Syndrome	Gastroesophageal reflux, Intestinal malrotation, Cryptorchidism, Aganglionic megacolon, Ectopic a...	ORPHA:2059
Hereditary Methemoglobinemia	Methemoglobinemia	ORPHA:621
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Hepatic fibrosis, Cholelithiasis, Abnormality of the spleen, Hepatosplenomegaly, Pancytopenia, Sp...	ORPHA:2072
Myopathy, Myofibrillar, 9, With Early Respiratory Failure	Respiratory failure	OMIM:603689
Beta-Thalassemia Intermedia	Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Erythroid hyperpla...	ORPHA:231222
Igg4-Related Submandibular Gland Disease	Enlarged lacrimal glands, Xerostomia, Abnormal pancreas morphology, Abnormality of the submandibu...	ORPHA:449432
Meier-Gorlin Syndrome 6	Gastroesophageal reflux, Umbilical hernia, Decreased response to growth hormone stimulation test,...	OMIM:616835
Mitochondrial Complex I Deficiency, Nuclear Type 1	Respiratory insufficiency, Splenomegaly, Death in infancy, Hepatomegaly, Respiratory failure	OMIM:252010
Fibrodysplasia Ossificans Progressiva	Respiratory failure, Respiratory insufficiency	OMIM:135100
Meckel Syndrome	Accessory spleen, Aplasia/Hypoplasia of the tongue, Furrowed tongue, Situs inversus totalis, Cryp...	ORPHA:564
Trichothiodystrophy 6, Nonphotosensitive	Increased HbA2 hemoglobin, Decreased mean corpuscular volume	OMIM:616943
Peripartum Cardiomyopathy	Anemia, Abnormality of thyroid physiology, Diabetes mellitus, Respiratory failure	ORPHA:563
Hereditary Motor And Sensory Neuropathy, Type Iic	Respiratory failure, Intercostal muscle weakness	OMIM:606071
Distal Triplication 15Q	High palate, Hydrocele testis, Hydrocephalus, Pulmonary hypoplasia	ORPHA:314588
Pearson Marrow-Pancreas Syndrome	Hypoplastic anemia, Type I diabetes mellitus, Exocrine pancreatic insufficiency, Sideroblastic an...	OMIM:557000
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Pleural effusion, Cleft palate, Pulmonary hypoplasia	OMIM:616897
Bickerstaff Brainstem Encephalitis	Pneumonia, Respiratory tract infection, Recurrent gastroenteritis, Respiratory failure, Respirato...	ORPHA:79138
Jacobsen Syndrome	Annular pancreas, Cryptorchidism, Hydrocephalus, Thrombocytopenia, Recurrent respiratory infectio...	OMIM:147791
Microcephaly-Micromelia Syndrome	Neonatal death, Aqueductal stenosis, Cleft palate, Pulmonary hypoplasia	OMIM:251230
Amyotrophic Lateral Sclerosis	Tongue atrophy, Respiratory failure, Xerostomia, Dysphagia	ORPHA:803
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Exocrine pancreatic insufficiency, Hyperechogenic pancreas, Abnormal liver parenchyma morphology,...	ORPHA:456312
Sarcoidosis	Abnormal lymph node morphology, Abnormal pleura morphology, Hepatomegaly, Enlargement of parotid ...	ORPHA:797
Teebi Hypertelorism Syndrome 1	Hydrocele testis, Pulmonary hypoplasia	OMIM:145420
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Hamartoma of tongue, Absent gallbladder, Neonatal death, Anal atresia, Esophageal diverticulum, C...	OMIM:617925
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome	Thrombocytopenia, Respiratory failure, Hypochromic microcytic anemia	ORPHA:3240
Hemorrhagic Fever-Renal Syndrome	Pneumonia, Pleural effusion, Leukocytosis, Pulmonary edema, Hematemesis, Hyperhidrosis, Thrombocy...	ORPHA:340
Autosomal Recessive Cutis Laxa Type 1	Peripheral pulmonary artery stenosis, Recurrent pneumonia, Small bowel diverticula, Respiratory i...	ORPHA:90349
Oculocerebrofacial Syndrome, Kaufman Type	High, narrow palate, Respiratory failure	ORPHA:2707
Wolfram Syndrome	Gastrointestinal hemorrhage, Male hypogonadism, Respiratory insufficiency, Abnormal mesentery mor...	ORPHA:3463
Steinert Myotonic Dystrophy	Abnormality of the tongue muscle, Cholelithiasis, Male hypogonadism, Intestinal pseudo-obstructio...	ORPHA:273
Glycogen Storage Disease Ib	Inflammation of the large intestine, Splenomegaly, Pancreatitis, Delayed puberty, Pancreatic fibr...	OMIM:232220
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Spinal dysraphism, Hepatosplenomegaly, Large placenta, Cryptorchidism, Pulmonary artery stenosis,...	ORPHA:96334
Multiple Pterygium Syndrome, X-Linked	Cleft palate, Pulmonary hypoplasia	OMIM:312150
Renal Agenesis, Bilateral	Sirenomelia, Abnormal intestine morphology, Tracheoesophageal fistula, Cleft palate, Pulmonary hy...	ORPHA:1848
Lethal Congenital Contracture Syndrome 2	Respiratory failure	OMIM:607598
Meckel Syndrome, Type 1	Malformation of the hepatic ductal plate, Accessory spleen, Pulmonary hypoplasia, Occipital encep...	OMIM:249000
Costello Syndrome	Respiratory insufficiency, Pneumothorax, Hydrocephalus, Lymphangiectasis, Macroglossia, High pala...	OMIM:218040
Tetrasomy 5P	High palate, Hydrocephalus, Recurrent respiratory infections, Pulmonary hypoplasia	ORPHA:3309
Netherton Syndrome	Emphysema, Recurrent respiratory infections	ORPHA:634
Meier-Gorlin Syndrome 7	Anal stenosis, Anteriorly placed anus, Duodenal stenosis, Breast aplasia, Cryptorchidism, Meconiu...	OMIM:617063
Aceruloplasminemia	Abnormal pancreas morphology, Hypochromic microcytic anemia, Elevated hepatic iron concentration,...	ORPHA:48818
Muscular Dystrophy, Duchenne Type	Respiratory failure, Respiratory insufficiency due to muscle weakness	OMIM:310200
Platyspondylic Dysplasia, Torrance Type	Cleft palate, Pulmonary hypoplasia	ORPHA:85166
Jacobsen Syndrome	Bone marrow hypocellularity, Annular pancreas, Intestinal malrotation, Cryptorchidism, Death in i...	ORPHA:2308
Dominant Beta-Thalassemia	Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomega...	ORPHA:231226
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Microcytic anemia, HbH hemoglobin	ORPHA:98791
Mosaic Trisomy 1	Hepatic agenesis, Pulmonary artery atresia, Cleft palate, Pulmonary hypoplasia	ORPHA:1692
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Cholelithiasis, Pulmonary hypoplasia, Severe B lymphocytopenia, Pancreatic hypoplasia, Cryptorchi...	ORPHA:83617
Bone Marrow Failure Syndrome 3	Bone marrow hypocellularity, Aplastic anemia, Increased mean corpuscular volume, Persistence of h...	OMIM:617052
Combined Oxidative Phosphorylation Defect Type 23	Respiratory failure	ORPHA:444013
Congenital Fiber-Type Disproportion Myopathy	Recurrent respiratory infections, Aspiration pneumonia, Intercostal muscle weakness, Respiratory ...	ORPHA:2020
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia	OMIM:250790
Beta-Thalassemia Major	Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomega...	ORPHA:231214
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Anal stenosis, Gastroesophageal reflux, Anal atresia, High palate, Hydrocele testis, Cleft palate...	OMIM:614080
Infantile Krabbe Disease	Gastroesophageal reflux, Respiratory failure	ORPHA:206436
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Death in infancy, Microvesicular hepatic steatosis, Cirrhosis, Elevated hepatic iron concentratio...	OMIM:300868
Diaphragmatic Hernia 4, With Cardiovascular Defects	Pulmonary artery hypoplasia, Neonatal respiratory distress, Cryptorchidism, Aortopulmonary window...	OMIM:620025
Congenital Myopathy 17	Respiratory insufficiency, Respiratory tract infection, High palate, Cleft palate, Pulmonary hypo...	OMIM:618975
Leigh Syndrome	Gastrointestinal dysmotility, Neutropenia, Anemia, Dysphagia, Respiratory failure	ORPHA:506
Multiple Pterygium Syndrome, Lethal Type	Cleft palate, Pulmonary hypoplasia	OMIM:253290
Genitopatellar Syndrome	Gastroesophageal reflux, Cryptorchidism, Pulmonary hypoplasia	ORPHA:85201
Trisomy 8P	Bifid uvula, Malrotation of small bowel, Recurrent upper respiratory tract infections, Annular pa...	ORPHA:264450
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Hepatic fibrosis, Exocrine pancreatic insufficiency, Hepatic steatosis, Hepatomegaly, Hypothyroid...	OMIM:616263
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Stillbirth, Pulmonary hypoplasia	OMIM:151210
Feingold Syndrome 1	Accessory spleen, Annular pancreas, Polysplenia, Jejunal atresia, Tracheoesophageal fistula, Esop...	OMIM:164280
Acro-Renal-Mandibular Syndrome	Aplasia/Hypoplasia of the tongue, Abnormal lung lobation, Tracheoesophageal fistula, High palate,...	ORPHA:958
Lmna-Related Cardiocutaneous Progeria Syndrome	Emphysema, Abnormal intrahepatic bile duct morphology, Pulmonary carcinoid tumor, Abnormality of ...	ORPHA:363618
Congenital Myopathy 22B, Severe Fetal	Hepatomegaly, High palate, Pleural effusion, Pulmonary hypoplasia	OMIM:620369
Renal Hypodysplasia/Aplasia 1	Pulmonary hypoplasia	OMIM:191830
Glycine Encephalopathy With Normal Serum Glycine	Dysphagia, Respiratory failure	OMIM:617301
Cardiac-Urogenital Syndrome	Accessory spleen, Intestinal malrotation, Scimitar anomaly, Cryptorchidism, Hepatopulmonary fusio...	OMIM:618280
Schinzel-Giedion Syndrome	Recurrent pneumonia, Annular pancreas, Central hypothyroidism, Anteriorly placed anus, Umbilical ...	ORPHA:798
Williams Syndrome	Precocious puberty, Peptic ulcer, Gastroesophageal reflux, Colonic diverticula, Cholelithiasis, P...	ORPHA:904
Mosaic Trisomy 16	Meckel diverticulum, Anteriorly placed anus, Large placenta, Abnormality of the gastrointestinal ...	ORPHA:1708
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Umbilical hernia, Adrenal hypoplasia, Stillbirth, Thyroid hypoplasia, Pulmonary hypoplasia	OMIM:308050
Spondyloepimetaphyseal Dysplasia, Krakow Type	High palate, Decreased serum insulin-like growth factor 1, Annular pancreas, Hydrocephalus	OMIM:618162
Severe Generalized Junctional Epidermolysis Bullosa	Pneumonia, Pneumothorax, Gastrointestinal inflammation, Anemia, Respiratory failure, Esophageal s...	ORPHA:79404
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Macroglossia, Large placenta, Respiratory failure, Umbilical hernia	ORPHA:254528
Smith-Lemli-Opitz Syndrome	Cholestatic liver disease, Bifid uvula, Pulmonary hypoplasia, Gastroesophageal reflux, Microgloss...	OMIM:270400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Hydrocephalus, Respiratory failure	OMIM:616538
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Bifid uvula, Gastroesophageal reflux, Emphysema, Absent gallbladder, Submucous cleft soft palate,...	ORPHA:500150
Tarp Syndrome	Extramedullary hematopoiesis, Cryptorchidism, Abnormal duodenum morphology, Glossoptosis, Tongue ...	ORPHA:2886
Raine Syndrome	Protruding tongue, Death in infancy, Neonatal death, Hydrocephalus, High palate, Cleft palate, Pu...	OMIM:259775
Loeys-Dietz Syndrome 4	High, narrow palate, Bifid uvula, Broad uvula, Emphysema, Eosinophilic infiltration of the esopha...	OMIM:614816
Fanconi Anemia, Complementation Group D2	Bone marrow hypocellularity, Annular pancreas, Pancytopenia, Cryptorchidism, Anemia, Tracheoesoph...	OMIM:227646
Scimitar Syndrome	Pulmonary artery hypoplasia, Bronchogenic cyst, Pneumothorax, Partial anomalous pulmonary venous ...	ORPHA:185
Thoracoabdominal Syndrome	Anencephaly, Hydrocephalus, Cleft palate, Pulmonary hypoplasia	OMIM:313850
Immunodeficiency 82 With Systemic Inflammation	Pneumonia, Reduced natural killer cell count, Anoperineal fistula, Hepatitis, Bronchitis, Villous...	OMIM:619381
Orofaciodigital Syndrome Type 4	High, narrow palate, Bifid uvula, Recurrent respiratory infections, Decreased testicular size, Bi...	ORPHA:2753
Cutis Laxa, Autosomal Recessive, Type Ia	Emphysema, Peripheral pulmonary artery stenosis, Recurrent respiratory infections, Umbilical hernia	OMIM:219100
Ulbright-Hodes Syndrome	Cryptorchidism, Pneumothorax, Maternal diabetes, High palate, Respiratory failure, Pulmonary hypo...	ORPHA:3404
Alg9-Cdg	Bifid uvula, Periportal fibrosis, Gastroesophageal reflux, Abnormal lung lobation, Villous atroph...	ORPHA:79328
Multiple Pterygium Syndrome, Escobar Variant	Neonatal respiratory distress, Umbilical hernia, Cryptorchidism, Hypoplastic nipples, High palate...	OMIM:265000
Pelizaeus-Merzbacher Disease, Connatal Form	Respiratory failure	ORPHA:280210
Mckusick-Kaufman Syndrome	Cryptorchidism, Aganglionic megacolon, Anal atresia, Rectovaginal fistula, Pulmonary hypoplasia	OMIM:236700
Acquired Methemoglobinemia	Methemoglobinemia	ORPHA:464453
Neonatal Marfan Syndrome	High, narrow palate, Decreased testicular size, Neonatal respiratory distress, Emphysema	ORPHA:284979
Stuve-Wiedemann Syndrome 1	Smooth tongue, Respiratory insufficiency, Death in infancy, Hyperhidrosis, Pulmonary arterial med...	OMIM:601559
Achondroplasia	Hydrocephalus, Death in infancy, Pulmonary hypoplasia	OMIM:100800
Ellis Van Creveld Syndrome	Acute leukemia, Emphysema, Situs inversus totalis, Cryptorchidism, Aplasia/Hypoplasia of the lungs	ORPHA:289
Ehlers-Danlos Syndrome, Vascular Type	Diffuse alveolar hemorrhage, Spontaneous pneumothorax, Emphysema, Nodular pattern on pulmonary HR...	OMIM:130050
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Hamartoma of tongue, Occipital meningocele, Hydrocephalus, Anencephaly, Cleft palate, Pulmonary h...	OMIM:616546
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:617101
Neurodegeneration And Seizures Due To Copper Transport Defect	Pneumothorax, Pulmonary hypoplasia	OMIM:620306
Fontaine Progeroid Syndrome	High, narrow palate, Gastroesophageal reflux, Absent nipple, Anteriorly placed anus, Respiratory ...	OMIM:612289
Truncus Arteriosus	Pulmonary artery hypoplasia, Abnormal lung lobation, Anomalous origin of one pulmonary artery fro...	ORPHA:3384
Ear-Patella-Short Stature Syndrome	High, narrow palate, Bifid uvula, Breast aplasia, Cryptorchidism, Submucous cleft hard palate, Re...	ORPHA:2554
Neu-Laxova Syndrome	Bifid uvula, Hypogonadism, Submucous cleft hard palate, Spina bifida, Cleft palate, Pulmonary hyp...	ORPHA:2671
Meier-Gorlin Syndrome 1	Gastroesophageal reflux, Emphysema, Breast hypoplasia, Cryptorchidism, Death in infancy, High pal...	OMIM:224690
Achondrogenesis, Type Ia	Stillbirth, Protruding tongue, Pulmonary hypoplasia	OMIM:200600
Fetal Akinesia Deformation Sequence 1	High, narrow palate, Small placenta, Cryptorchidism, Short umbilical cord, Hydrocephalus, Stillbi...	OMIM:208150
Otopalatodigital Syndrome Type 2	Myelomeningocele, Encephalocele, Hydrocephalus, Glossoptosis, Cleft palate, Pulmonary hypoplasia	ORPHA:90652
Smith-Lemli-Opitz Syndrome	Pulmonary hypoplasia, Gastroesophageal reflux, Microglossia, Abnormal lung lobation, Abnormality ...	ORPHA:818
Shwachman-Diamond Syndrome 1	Persistence of hemoglobin F, Pancytopenia, Acute myeloid leukemia, Neutropenia, Thrombocytopenia,...	OMIM:260400
Lethal Acantholytic Erosive Disorder	Respiratory failure, Cleft palate	ORPHA:158687
Penile Agenesis	Bilateral lung agenesis, Cryptorchidism, Anal atresia, Tracheoesophageal fistula, Rectal fistula,...	ORPHA:49
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Pulmonary hypoplasia	ORPHA:86822
Fraser Syndrome 1	Myelomeningocele, Abnormal small intestine morphology, Cryptorchidism, Encephalocele, Abnormality...	OMIM:219000
Diamond-Blackfan Anemia	Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin...	ORPHA:124
Microphthalmia With Linear Skin Defects Syndrome	Abnormal rectum morphology, Abnormality of the anus, Hydrocephalus, Abnormal testis morphology, R...	ORPHA:2556
Oligomeganephronia	Branchial cyst, Pulmonary venous occlusion, Pulmonary hypoplasia	ORPHA:2260
Thymoma	Leukemia, Pure red cell aplasia, Aplastic anemia, Imbalanced hemoglobin synthesis	ORPHA:99867
Myhre Syndrome	Respiratory failure, Cryptorchidism, Cleft palate, Respiratory insufficiency	OMIM:139210
Cutis Laxa, Autosomal Recessive, Type Ib	Pulmonary artery aneurysm, Pulmonary artery dilatation, Emphysema, Death in childhood, Neonatal d...	OMIM:614437
Neu-Laxova Syndrome 1	Hydranencephaly, Small placenta, Cryptorchidism, Short umbilical cord, Neonatal death, Spina bifi...	OMIM:256520
Mitochondrial Complex I Deficiency, Nuclear Type 32	Patent urachus, Respiratory failure, Death in childhood	OMIM:618252
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:619769
Fabry Disease	Respiratory insufficiency, Emphysema, Hypohidrosis, Delayed puberty, Achalasia, Anemia, Diabetes ...	ORPHA:324
Beckwith-Wiedemann Syndrome	Polycythemia, Abnormal pancreas morphology, Umbilical hernia, Exocrine pancreatic insufficiency, ...	ORPHA:116
Renal Agenesis	Anal atresia, Pulmonary hypoplasia	ORPHA:411709
Ogden Syndrome	Peripheral pulmonary artery stenosis, Polycythemia, Umbilical hernia, Decreased testicular size, ...	OMIM:300855
Fraser Syndrome	Anal stenosis, Abnormal lung lobation, Myelomeningocele, Umbilical hernia, Cryptorchidism, Enceph...	ORPHA:2052
Spondylodysplastic Ehlers-Danlos Syndrome	Respiratory insufficiency, Hypogonadism, Cryptorchidism, Agenesis of pineal gland, Cleft palate, ...	ORPHA:536471
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Respiratory insufficiency, Cryptorchidism, Congenital hepatic fibrosis, Ectopic anus, Esophageal ...	ORPHA:93271
Otopalatodigital Syndrome, Type Ii	Umbilical hernia, Respiratory insufficiency, Cryptorchidism, Hydrocephalus, Spina bifida, Stillbi...	OMIM:304120
Lead Poisoning	Anemia, Imbalanced hemoglobin synthesis, Abnormal T cell morphology	ORPHA:330015
Acrorenal-Mandibular Syndrome	Narrow palate, High palate, Absent nipple, Pulmonary hypoplasia	OMIM:200980
Cutis Laxa, Autosomal Dominant 1	Emphysema, Peripheral pulmonary artery stenosis, Bronchiectasis	OMIM:123700
Atelosteogenesis Type Ii	Pulmonary hypoplasia, Cleft palate, Bilateral cleft palate	ORPHA:56304
Lethal Congenital Contracture Syndrome 9	Cardiorespiratory arrest, Short umbilical cord, Pulmonary hypoplasia	OMIM:616503
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Bifid uvula, Abnormal circulating calcium-phosphate regulating hormone concentration, Cryptorchid...	ORPHA:2636
Absence Of The Pulmonary Artery	Recurrent pneumonia, Pulmonary edema, Abnormal pulmonary thoracic imaging finding, Recurrent resp...	ORPHA:980
Distal Deletion 15Q	Cryptorchidism, Decreased serum insulin-like growth factor 1, Bifid tongue, Cleft palate, Pulmona...	ORPHA:1596
Tetrasomy 9P	Bifid uvula, Umbilical hernia, Median cleft palate, Cryptorchidism, Absent gallbladder, Biliary a...	ORPHA:3310
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Anemia, Abnormal hemoglobin	ORPHA:847
Dpagt1-Cdg	Hepatomegaly, Anemia, Pulmonary hypoplasia	ORPHA:86309
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Anomalous origin of right pulmonary artery from ascending aorta, Anomalous origin of left pulmona...	ORPHA:99050
Renal Cysts And Diabetes Syndrome	Maturity-onset diabetes of the young, Pancreatic hypoplasia, Exocrine pancreatic insufficiency, B...	OMIM:137920
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:301040
Diamond-Blackfan Anemia 1	Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami...	OMIM:105650
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Anal atresia, Pulmonary hypoplasia	OMIM:271520
Congenital Total Pulmonary Venous Return Anomaly	Mixed total anomalous pulmonary venous connection, Respiratory failure requiring assisted ventila...	ORPHA:99125
Restrictive Dermopathy	Microcolon, Small placenta, Large placenta, Short umbilical cord, Submucous cleft hard palate, Co...	ORPHA:1662
Keutel Syndrome	Pulmonary artery hypoplasia, Peripheral pulmonary artery stenosis, Emphysema, Recurrent bronchiti...	OMIM:245150
Arteriosclerosis, Severe Juvenile	Anemia, Delayed puberty, Gastric ulcer	OMIM:208060
Restrictive Dermopathy 1	Hydropic placenta, Short umbilical cord, Submucous cleft hard palate, Neonatal death, Adrenal hyp...	OMIM:275210
Osteogenesis Imperfecta	Neonatal respiratory distress, Umbilical hernia, Intestinal obstruction, Hyperhidrosis, Thrombocy...	ORPHA:666
Genitopatellar Syndrome	Malrotation of small bowel, Anal stenosis, Anteriorly placed anus, Cryptorchidism, Hypothyroidism...	OMIM:606170
Viss Syndrome	Cleft soft palate, Celiac disease, High palate, Dysphagia, Duodenitis, High, narrow palate, Pulmo...	OMIM:619472
Blomstrand Lethal Chondrodysplasia	Protruding tongue, Pulmonary hypoplasia	ORPHA:50945
Proteus Syndrome	Pulmonary cyst, Thymus hyperplasia, Bronchogenic cyst, Diabetes insipidus, Abnormal lung lobation...	ORPHA:744
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets	Duodenal ulcer, Gastric ulcer, Iron deficiency anemia, Esophageal ulceration	OMIM:618372
Marfan Syndrome	High, narrow palate, Spontaneous pneumothorax, Pulmonary artery dilatation, Emphysema, Meningocel...	ORPHA:558
Autosomal Dominant Cutis Laxa	Peripheral pulmonary artery stenosis, Bronchiolitis, Small bowel diverticula, Emphysema, Bronchie...	ORPHA:90348
Coffin-Siris Syndrome 1	Recurrent respiratory infections, Umbilical hernia, Intestinal malrotation, Cryptorchidism, Spina...	OMIM:135900
Marfan Syndrome	Pulmonary artery dilatation, Emphysema, Pneumothorax, High palate, Narrow palate	OMIM:154700
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome	Persistent cloaca, Pulmonary hypoplasia	ORPHA:1112
Pallister-Killian Syndrome	Bifid uvula, Anal stenosis, Stillbirth, Anteriorly placed anus, Supernumerary nipple, Intestinal ...	OMIM:601803
Microphthalmia, Syndromic 1	High, narrow palate, Pulmonary hypoplasia, Cryptorchidism, Aganglionic megacolon, Anal atresia, H...	OMIM:309800
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult	Gastric hypertrophy, Hyperhidrosis, Gastric ulcer	OMIM:161700
Sotos Syndrome	Small cell lung carcinoma, Gastroesophageal reflux, Umbilical hernia, Acute lymphoblastic leukemi...	ORPHA:821
Alkaptonuria	Methemoglobinemia, Hemolytic anemia	ORPHA:56
Craniofacial Microsomia 1	Occipital encephalocele, Branchial anomaly, Hydrocephalus, Cleft palate, 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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