Gene Summary

Hedgehog-interacting protein
Hip,  Hip1,  Hhip1

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Not Significant
Not tested


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 Hhiptm1Icmb HET Early adult 1.21×10-05

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Viewing: all phenotypes

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.

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 Similarity of
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
Methemoglobin Reductase Deficiency
Abnormal erythrocyte morphology OMIM:250700
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Acetophenetidin Sensitivity
Methemoglobinemia, Hemolytic anemia OMIM:200300
Diamond-Blackfan Anemia-Like
Pure red cell aplasia, Steroid-responsive anemia OMIM:617911
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Diamond-Blackfan Anemia 19
Erythroid hypoplasia, Anemia, Steroid-responsive anemia OMIM:618312
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
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly OMIM:613978
Alpha-Thalassemia Myelodysplasia Syndrome
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:300448
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:604131
Diamond-Blackfan Anemia 13
Elevated red cell adenosine deaminase level, Normocytic anemia OMIM:615909
Anemia, Sideroblastic, 4
Sideroblastic anemia, Abnormal erythrocyte morphology OMIM:182170
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Abnormal hemoglobin, Anemia, Splenomegaly ORPHA:231393
Heinz Body Anemias
Nonspherocytic hemolytic anemia, Heinz body anemia, Heinz bodies OMIM:140700
Asbestos Intoxication
Wheezing, Exertional dyspnea, Ground-glass opacification, Late inspiratory crackles, Pulmonary fi... ORPHA:2302
Pulmonary Nodular Lymphoid Hyperplasia
Ground-glass opacification, Dyspnea, Cough, Plasmacytosis, Follicular hyperplasia, Nodular patter... ORPHA:60026
Bronchopulmonary Dysplasia
Pulmonary sequestration, Abnormal lung morphology, Wheezing, Abnormal respiratory system morpholo... ORPHA:70589
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Bronchogenic Cyst
Abnormal sputum, Abnormal stomach morphology, Dyspnea, Abnormal pleura morphology, Dysphagia, Abn... ORPHA:2357
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Pyridoxine-responsive sideroblastic anemia, Sideroblastic anemia, Decreased mean cor... OMIM:206000
Tracheobronchopathia Osteochondroplastica
Abnormal sputum, Esophagitis, Tracheal calcification, Wheezing, Exertional dyspnea, Pneumonia, Re... ORPHA:3348
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Wheezing, Cough, Elevated circulating thyroid-stimulating hormone concentration, Elevated broncho... OMIM:610978
Recurrent Respiratory Papillomatosis
Abnormal lung morphology, Wheezing, Respiratory distress, Dyspnea, Recurrent upper respiratory tr... ORPHA:60032
Surfactant Metabolism Dysfunction, Pulmonary, 3
Reticular pattern on pulmonary HRCT, Exertional dyspnea, Cough, Death in infancy, Bronchial wall ... OMIM:610921
Butyrylcholinesterase Deficiency
Respiratory failure requiring assisted ventilation, Respiratory failure, Abnormality of the liver ORPHA:132
Acute Interstitial Pneumonia
Subpleural honeycombing, Ground-glass opacification, Dyspnea, Interlobular septal thickening, Bro... ORPHA:79126
Encephalopathy Due To Prosaposin Deficiency
Death in infancy, Respiratory insufficiency, Hepatomegaly, Splenomegaly, Recurrent respiratory in... ORPHA:139406
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Wheezing, Dyspnea, Chronic pulmonary obstruction, Hepatocellular carcinoma, Panacinar ... OMIM:613490
Acute Lung Injury
Dyspnea, Respiratory distress, Pneumonia, Acute pancreatitis, Abnormal pulmonary interstitial mor... ORPHA:178320
Woronets Trait
Red blood cell keratocytosis OMIM:194320
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
Primary Ciliary Dyskinesia
Wheezing, Bronchiectasis, Nasal polyposis, Intestinal malrotation, Chronic sinusitis, Hydrocephal... ORPHA:244
Pulmonary Blastoma
Recurrent pneumonia, Dyspnea, Pleuropulmonary blastoma, Cough, Hemoptysis, Pulmonary infiltrates ORPHA:64741
Ciliary Dyskinesia, Primary, 21
Chronic sinusitis, Bronchiectasis, Ciliary dyskinesia, Atelectasis, Neonatal respiratory distress... OMIM:615294
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F, Reticulocytopenia OMIM:610629
Spinal Muscular Atrophy, Type I
Respiratory failure, Recurrent respiratory infections, Respiratory insufficiency OMIM:253300
Immunodeficiency 54
Respiratory insufficiency, Hepatomegaly, Reduced natural killer cell count, Adrenocorticotropic h... OMIM:609981
Ciliary Dyskinesia, Primary, 20
Situs inversus totalis, Bronchiectasis, Ciliary dyskinesia, Absent outer dynein arms, Recurrent s... OMIM:615067
Nphp3-Related Meckel-Like Syndrome
Intestinal malrotation, Abnormality of the pancreas, Abnormal biliary tract morphology, Pulmonary... ORPHA:3032
Mucus Inspissation Of Respiratory Tract
Chronic pulmonary obstruction, Bronchiectasis, Atelectasis, Chronic sinusitis, Recurrent respirat... OMIM:253240
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production OMIM:603529
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Respiratory failure, Death in childhood, Central apnea, Respiratory insufficiency OMIM:611722
Ciliary Dyskinesia, Primary, 29
Bronchiectasis, Ciliary dyskinesia, Atelectasis, Decreased nasal nitric oxide, Recurrent respirat... OMIM:615872
Staphylococcal Necrotizing Pneumonia
Cough, Pneumonia, Leukopenia, Neutrophilia, Respiratory distress, Increased circulating procalcit... ORPHA:36238
Adenosine Triphosphate, Elevated, Of Erythrocytes
Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration OMIM:102900
Sarcoidosis, Susceptibility To, 2
Restrictive ventilatory defect, Dyspnea, Bronchiectasis, Pulmonary fibrosis, Pleural effusion, Em... OMIM:612387
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal hemoglobin, Anemia ORPHA:3319
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
Adult Acute Respiratory Distress Syndrome
Dyspnea, Pneumonia, Respiratory failure, Pulmonary edema, Diabetic ketoacidosis, Pancreatitis, Ab... ORPHA:70578
Surfactant Metabolism Dysfunction, Pulmonary, 1
Ground-glass opacification, Apnea, Intraalveolar phospholipid accumulation, Absent bronchoalveola... OMIM:265120
Ciliary Dyskinesia, Primary, 33
Recurrent bronchitis, Bronchiectasis, Ciliary dyskinesia, Cough, Atelectasis, Chronic rhinitis, R... OMIM:616726
Surfactant Metabolism Dysfunction, Pulmonary, 2
Bronchiectasis, Interstitial pneumonitis, Cough, Respiratory insufficiency, Pulmonary arterial hy... OMIM:610913
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Dyspnea, Dysphagia, Cough, Respiratory failure requiring assisted ventilation, Aspiration pneumon... ORPHA:90117
Adenylate Kinase Deficiency, Hemolytic Anemia Due To
Hemolytic anemia OMIM:612631
6-Phosphogluconolactonase Deficiency
Hemolytic anemia OMIM:172150
Dyspnea, Interstitial pneumonitis, Parenchymal consolidation, Pleural effusion, Exertional dyspne... ORPHA:723
Respiratory Distress Syndrome In Premature Infants
Dyspnea, Respiratory distress, Atelectasis, Neonatal respiratory distress, Pulmonary edema, Tachy... OMIM:267450
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Hepatomegaly, Median cleft palate, Recurrent respiratory infections, Respiratory insufficiency ORPHA:2432
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness
Chronic sinusitis, Recurrent bronchitis, Atelectasis OMIM:300455
Respiratory tract infection, Wheezing, Gastrointestinal obstruction, Respiratory distress, Dyspha... ORPHA:1549
Idiopathic Acute Eosinophilic Pneumonia
Restrictive ventilatory defect, Abnormal pleura morphology, Cough, Respiratory insufficiency, Abn... ORPHA:724
Meconium Aspiration Syndrome
Maternal diabetes, Wheezing, Respiratory distress, Pulmonary arterial hypertension, Atelectasis, ... ORPHA:70588
Hemolytic anemia, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia, Abnormal hemoglobin ORPHA:846
Interstitial Pneumonitis, Desquamative, Familial
Type II pneumocyte hypertrophy, Respiratory distress, Recurrent upper respiratory tract infection... OMIM:263000
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Restrictive ventilatory defect, Respiratory distress, Dysphagia, Respiratory insufficiency, Respi... OMIM:614399
Lethal Osteosclerotic Bone Dysplasia
Median cleft lip and palate, Dyspnea, Short nose, Respiratory distress, Respiratory failure, Ante... ORPHA:1832
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies
Respiratory failure, Respiratory insufficiency OMIM:208081
Chronic Beryllium Disease
Ground-glass opacification, Abnormality on pulmonary function testing, Abnormal proportion of CD4... ORPHA:133
Ceroid Lipofuscinosis, Neuronal, 10
Apnea, Respiratory failure, Respiratory insufficiency, Wide nasal bridge OMIM:610127
Combined Oxidative Phosphorylation Deficiency 52
Hepatic steatosis, Death in infancy, Adrenal insufficiency, Respiratory failure, Pancreatitis OMIM:619386
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Abnormal respiratory system physiology, Dysphagia, Reduced maximal inspiratory pressure, Respirat... ORPHA:266
Developmental And Epileptic Encephalopathy 71
Respiratory failure, Respiratory insufficiency OMIM:618328
Congenital Arthrogryposis With Anterior Horn Cell Disease
Cryptorchidism, Respiratory insufficiency due to muscle weakness, Neonatal death, Respiratory fai... OMIM:611890
Niemann-Pick Disease, Type B
Bone-marrow foam cells, Dyspnea, Hepatomegaly, Sea-blue histiocytosis, Splenomegaly, Diffuse reti... OMIM:607616
Familial Nasal Acilia
Dyspnea, Respiratory distress, Bronchiectasis, Recurrent upper respiratory tract infections, Atel... ORPHA:922
Deafness-Lymphedema-Leukemia Syndrome
Myeloproliferative disorder, Leukocytosis, Recurrent respiratory infections, Hepatomegaly, Thromb... ORPHA:3226
Infant Acute Respiratory Distress Syndrome
Respiratory tract infection, Pneumonia, Atelectasis, Respiratory failure, Pulmonary edema, Nasal ... ORPHA:70587
Pleuritis, Pulmonary fibrosis, Decreased pulmonary function, Cough, Bronchial breath sound, Pneum... ORPHA:449280
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Splenomegaly, Pulmonary infiltrates, Myeloproliferative disorder, Eosinophilia OMIM:607685
Idiopathic Bronchiectasis
Respiratory tract infection, Wheezing, Dyspnea, Bronchiectasis, Emphysema, Acute infectious pneum... ORPHA:60033
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Hepatomegaly, Respiratory failure, Death in infancy, Respiratory insufficiency OMIM:614299
Matthew-Wood Syndrome
Cryptorchidism, Abnormal lung morphology, Abnormal spleen morphology, Duodenal stenosis, Pulmonar... ORPHA:2470
Avian Influenza
Ground-glass opacification, Dyspnea, Respiratory distress, Pleural effusion, Lymphopenia, Cough, ... ORPHA:454836
Pulmonary Hemosiderosis
Iron deficiency anemia, Pulmonary fibrosis, Recurrent intrapulmonary hemorrhage, Respiratory insu... OMIM:178550
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Neutropenia, Thrombocytopenia, HbH hemoglobin, Splenomegaly, Acute leukemia ORPHA:231401
Mitochondrial Complex I Deficiency, Nuclear Type 30
Neonatal death, Respiratory failure OMIM:301021
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia OMIM:619057
Spondylometaphyseal Dysplasia, X-Linked
Respiratory insufficiency, Wide nasal bridge, Respiratory failure, Anteverted nares, Depressed na... OMIM:313420
Allergic Bronchopulmonary Aspergillosis
Bronchiectasis, Emphysema, Cough, Respiratory insufficiency, Asthma, Hemoptysis, Pulmonary arteri... ORPHA:1164
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Dysphagia, Ventilator dependence with inability to wean, Respiratory insuff... ORPHA:254875
Hepatic Veno-Occlusive Disease
Hepatomegaly, Jaundice, Respiratory failure ORPHA:890
Ciliary Dyskinesia, Primary, 14
Recurrent pneumonia, Abnormal ciliary motility, Situs inversus totalis, Wheezing, Bronchiectasis,... OMIM:613807
Pulmonary Hypoplasia, Primary
Neonatal death, Pulmonary hypoplasia OMIM:265430
Rowley-Rosenberg Syndrome
Pulmonary arterial hypertension, Atelectasis, Recurrent pneumonia OMIM:268500
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatic cysts, Pancreatic cysts, Periportal fibrosis, Esophageal varix, Hepatomegaly, Neonatal de... OMIM:263200
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Exertional dyspnea, Pulmonary fibrosis, Dysphagia, Bronchiolitis, Atelectasis ORPHA:254361
Nemaline Myopathy 8
Dysphagia, Respiratory failure, Death in infancy OMIM:615348
Duodenal Atresia
Abnormality of the pulmonary artery, Abnormality of the pancreas, Duodenal atresia, Annular pancreas ORPHA:1203
Pontocerebellar Hypoplasia, Type 1C
Respiratory failure, Respiratory insufficiency OMIM:616081
Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites
Nonspherocytic hemolytic anemia, Heinz body anemia, Elliptocytosis, Poikilocytosis OMIM:141700
Idiopathic Pulmonary Fibrosis
Ground-glass opacification, Reticular pattern on pulmonary HRCT, Bronchiectasis, Pulmonary fibros... ORPHA:2032
Emphysema, Hereditary Pulmonary
Emphysema, Chronic pulmonary obstruction, Chronic bronchitis OMIM:130700
Laryngotracheoesophageal Cleft Type 4
Abnormality of mesentery morphology, Respiratory insufficiency, Laryngomalacia, Tracheal stenosis... ORPHA:93941
Alpha-1-Antitrypsin Deficiency
Hepatomegaly, Jaundice, Hepatitis, Emphysema ORPHA:60
Pleuritis, Bronchiectasis, Cough, Abnormal esophagus morphology, Neutropenia, Pneumonia, Abnormal... ORPHA:1163
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production OMIM:166910
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Dysphagia, Recurrent aspiration pneumonia, Respiratory failure, Respiratory insufficiency due to ... ORPHA:2590
Birt-Hogg-Dubé Syndrome
Pulmonary sequestration, Emphysema, Parathyroid adenoma, Pneumothorax, Medullary thyroid carcinoma ORPHA:122
Anemia, Sideroblastic, 1
Sideroblastic anemia, Hypochromic microcytic anemia, Macrocytic anemia, Anemia of inadequate prod... OMIM:300751
Peroxisome Biogenesis Disorder 4A (Zellweger)
Hepatomegaly, Respiratory failure, Death in infancy, Depressed nasal bridge OMIM:614862
Perlman Syndrome
Cryptorchidism, Short nose, Hyperinsulinemia, Wide nasal bridge, Hepatomegaly, Abnormal pancreas ... ORPHA:2849
Myopathy, Centronuclear, X-Linked
Cryptorchidism, Respiratory failure requiring assisted ventilation, Neonatal respiratory distress... OMIM:310400
Spherocytosis, Type 3
Spherocytosis, Hemolytic anemia OMIM:270970
Farber Disease
Respiratory distress, Recurrent upper respiratory tract infections, Intrahepatic cholestasis with... ORPHA:333
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Dysphagia, Respiratory failure, Gastrointestinal dysmotility OMIM:618637
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Apnea, Respiratory failure, Respiratory insufficiency OMIM:613869
Congenital Muscular Dystrophy With Intellectual Disability
Cryptorchidism, Respiratory failure, Respiratory insufficiency, Abnormality of the tongue muscle ORPHA:370968
Larsen-Like Syndrome, Lethal Type
Respiratory insufficiency, Tracheomalacia, Laryngomalacia, Neonatal death, Pulmonary hypoplasia OMIM:245650
Pontocerebellar Hypoplasia, Type 4
Respiratory failure, Death in infancy OMIM:225753
Autosomal Recessive Polycystic Kidney Disease
Jaundice, Hypersplenism, Fat malabsorption, Periportal fibrosis, Thrombocytopenia, Cholangitis, R... ORPHA:731
Dubin-Johnson Syndrome
Biliary tract abnormality, Hepatomegaly, Jaundice, Abnormality of the gastric mucosa, Abnormality... ORPHA:234
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Dysphagia, Pulmonary hypoplasia, Respiratory failure, Neonatal respiratory distress OMIM:616867
Pallister-Hall-Like Syndrome
Short nose, Hydrocephalus, Death in infancy, Pulmonary hypoplasia, Microglossia, Cleft palate, An... OMIM:241800
Peritonitis, Cough, Neutropenia, Ileitis, Melena, Sinusitis, Air crescent sign, Splenic abscess, ... ORPHA:73263
Martinez-Frias Syndrome
Extrahepatic biliary duct atresia, Intestinal malrotation, Jejunal atresia, Intestinal hypoplasia... OMIM:601346
Geleophysic Dysplasia 3
Sleep apnea, Dyspnea, Bulbous nose, Subglottic stenosis, Pneumonia, Wide nasal bridge, Hepatomega... OMIM:617809
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Emphysema, Portal hypertension, Cirrhosis OMIM:210050
Ciliary Dyskinesia, Primary, 43
Bronchiectasis, Recurrent upper respiratory tract infections, Abdominal situs inversus, Productiv... OMIM:618699
Congenital Neuronal Ceroid Lipofuscinosis
Apnea, Central sleep apnea, Wide nasal bridge, Neonatal respiratory distress, Respiratory failure ORPHA:168486
Pancreatitis, Hereditary
Exocrine pancreatic insufficiency, Pancreatic pseudocyst, Pleural effusion, Steatorrhea, Pancreat... OMIM:167800
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Chronic hemolytic anemia, Hepatocellular necrosis, Elliptocytosis, Reticulocytosis, Respiratory i... OMIM:618278
Pyropoikilocytosis, Hereditary
Microspherocytosis, Hemolytic anemia, Elliptocytosis, Pyropoikilocytosis OMIM:266140
Restrictive ventilatory defect, Dyspnea, Gastrointestinal hemorrhage, Hydrocephalus, Emphysema, C... ORPHA:538
Immunodeficiency 27A
Thrombocytosis, Pulmonary infiltrates, Leukocytosis, Pneumonia, Histiocytosis, Anemia, Splenomega... OMIM:209950
Cystic Echinococcosis
Ovarian cyst, Peritoneal abscess, Hepatic cysts, Abnormality of the testis size, Abnormality of t... ORPHA:400
3-Methylglutaconic Aciduria, Type Viii
Apnea, Respiratory failure, Death in infancy, Neutropenia OMIM:617248
Immunodeficiency 60
Bronchiectasis, Decreased proportion of memory B cells, Pulmonary fibrosis, Decreased basophil co... OMIM:618394
Hyperekplexia 4
High palate, Respiratory failure, Umbilical hernia OMIM:618011
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4
Apnea, Pulmonary hypoplasia OMIM:615228
Pulmonary Non-Tuberculous Mycobacterial Infection
Pulmonary opacity, Abnormal sputum, Dyspnea, Respiratory distress, Bronchiectasis, Chronic pulmon... ORPHA:411703
Reynolds Syndrome
Cirrhosis, Dysphagia, Gastroesophageal reflux, Respiratory insufficiency, Hepatomegaly, Jaundice,... ORPHA:779
Whim Syndrome
Recurrent pneumonia, Respiratory tract infection, Bronchiectasis, Recurrent upper respiratory tra... ORPHA:51636
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Respiratory failure OMIM:600561
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Respiratory failure, Respiratory insufficiency due to muscle weakness OMIM:618291
Ovalocytosis, Southeast Asian
Hemolytic anemia, Elliptocytosis OMIM:166900
Short-Rib Thoracic Dysplasia 12
Median cleft lip and palate, Holoprosencephaly, Periportal fibrosis, Intestinal malrotation, Hama... OMIM:269860
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Dyspnea, Respiratory distress, Aplasia/Hypoplasia of the tongue, Choanal atresia, Wide nasal brid... ORPHA:2759
Osteopetrosis, Autosomal Recessive 5
Stillbirth, Extramedullary hematopoiesis, Hepatomegaly, Pancytopenia, Thrombocytopenia, Respirato... OMIM:259720
Lissencephaly Syndrome, Norman-Roberts Type
Respiratory distress, Dysphagia, Wide nasal bridge, Hypoplastic spleen, Wide nose ORPHA:89844
Common Variable Immunodeficiency
Recurrent bronchitis, Restrictive ventilatory defect, Gastrointestinal stroma tumor, Hemolytic an... ORPHA:1572
Renal-Hepatic-Pancreatic Dysplasia 2
Situs inversus totalis, Stillbirth, Cholestasis, Hepatic fibrosis, Hepatomegaly, Asplenia, Pulmon... OMIM:615415
Renal-Hepatic-Pancreatic Dysplasia 1
Cirrhosis, Hepatic cysts, Pancreatic cysts, Polysplenia, Biliary cirrhosis, Intestinal malrotatio... OMIM:208540
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Bronchiectasis, Lymphopenia, Emphysema, Recurrent bronchopulmonary infecti... OMIM:242700
Iron-Refractory Iron Deficiency Anemia
Hypochromic microcytic anemia, Anisocytosis, Poikilocytosis OMIM:206200
Muscular Dystrophy, Congenital, 1B
Respiratory failure OMIM:604801
Leigh Syndrome
Respiratory failure, Hepatocellular necrosis, Respiratory insufficiency, Abnormal pattern of resp... OMIM:256000
Mitochondrial Complex I Deficiency, Nuclear Type 8
Dysphagia, Pancreatitis, Respiratory insufficiency OMIM:618230
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Death in infancy, Respiratory insufficiency, Neonatal respiratory distress, Neonatal death, Death... OMIM:245400
Classic Hodgkin Lymphoma
Cough, Respiratory insufficiency, Hepatomegaly, Splenomegaly, Hyperhidrosis, Hemoptysis, Bone mar... ORPHA:391
Isolated Polycystic Liver Disease
Gastrointestinal hemorrhage, Polycystic liver disease, Gastroesophageal reflux, Respiratory insuf... ORPHA:2924
Thymic Aplasia With Fetal Death
Pulmonary hypoplasia, Stillbirth, Abnormality of the endocrine system OMIM:274210
Multiple Mitochondrial Dysfunctions Syndrome 1
Pulmonary arterial hypertension, Respiratory failure, Respiratory insufficiency OMIM:605711
Abnormal nasopharyngeal adenoid morphology, Abnormal pulmonary thoracic imaging finding, Respirat... ORPHA:3392
Dyssegmental Dysplasia, Silverman-Handmaker Type
Cryptorchidism, Neonatal death, Pulmonary hypoplasia, Wide nasal bridge OMIM:224410
Sickle Cell Anemia
Iron deficiency anemia, Hypochromic anemia, Thrombocytosis, Hemolytic anemia, Chronic hemolytic a... ORPHA:232
Legionnaires Disease
Restrictive ventilatory defect, Abnormal lung morphology, Abnormal pleura morphology, Lymphopenia... ORPHA:549
Combined Oxidative Phosphorylation Deficiency 8
Pulmonary hypoplasia, Death in infancy OMIM:614096
Polyposis of gastric fundus without polyposis coli
Multiple gastric polyps, Abnormality of the gastric mucosa OMIM:175505
Severe Neurodegenerative Syndrome With Lipodystrophy
Cirrhosis, Hyperinsulinemia, Hepatic steatosis, Hepatomegaly, Respiratory failure ORPHA:363400
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure OMIM:616794
Fetal Gaucher Disease
Stillbirth, Death in infancy, Hepatomegaly, Pancytopenia, Neonatal death, Thrombocytopenia, Splen... ORPHA:85212
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:609820
Erythrocytosis, Familial, 7
Polycythemia, Increased hematocrit OMIM:617981
Vacterl Association With Hydrocephalus
Stillbirth, Aqueductal stenosis, Respiratory insufficiency, Anal atresia, Respiratory failure, Hy... OMIM:276950
Mitochondrial Complex I Deficiency, Nuclear Type 35
Pulmonary arterial hypertension, Neonatal respiratory distress, Neonatal death, Pulmonary hypoplasia OMIM:619003
Feingold Syndrome
Esophageal atresia, Duodenal atresia, Abnormality of the spleen, Anteverted nares, Annular pancre... ORPHA:1305
Brain-Lung-Thyroid Syndrome
Compensated hypothyroidism, Thyroid hemiagenesis, Respiratory distress, Pulmonary fibrosis, Eleva... ORPHA:209905
Diffuse Alveolar Hemorrhage
Ground-glass opacification, Restrictive ventilatory defect, Dyspnea, Pulmonary fibrosis, Leukocyt... ORPHA:90060
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory tract infection, Macroglossia, Respiratory distress, Respiratory failure requiring as... ORPHA:308552
Acrocephalopolydactylous Dysplasia
Short nose, Polysplenia, Hypoplastic colon, Hypoplasia of the small intestine, Pancreatic fibrosi... OMIM:200995
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Neonatal death, Respiratory failure, Respiratory insufficiency OMIM:228940
Kaposiform Lymphangiomatosis
Abnormal lung morphology, Dyspnea, Pancreatic cysts, Pleural effusion, Abnormal lymphatic vessel ... ORPHA:464329
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Elliptocytosis, Increased hemoglobin, Abnormal erythrocyte morphology, Neutropenia, Thrombocytope... OMIM:300835
Meckel diverticulum, Situs inversus totalis, Hydrocephalus, Abnormal pulmonary situs morphology, ... ORPHA:1666
Hemorrhagic Fever-Renal Syndrome
Gastrointestinal hemorrhage, Leukocytosis, Pleural effusion, Respiratory insufficiency, Atelectas... ORPHA:340
African Iron Overload
Peritonitis, Micronodular cirrhosis, Increased circulating cortisol level, Viral hepatitis, Hepat... ORPHA:139507
Erythrocytosis, Familial, 5
Polycythemia, Increased hematocrit, Increased hemoglobin OMIM:617907
Erythrocytosis, Familial, 6
Polycythemia, Increased hematocrit, Increased hemoglobin OMIM:617980
Eosinophilia, Familial
Recurrent bronchitis, Leukocytosis, Thrombocytopenia, Anemia, Pulmonary infiltrates, Eosinophilia OMIM:131400
Renal Hypodysplasia/Aplasia 2
Pulmonary hypoplasia OMIM:615721
Microphthalmia, Syndromic 12
Cryptorchidism, Pulmonary hypoplasia, Wide nasal bridge, Broad nasal tip OMIM:615524
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death, Hepatosplenomegaly, Anemia OMIM:273680
Multiple Acyl-Coa Dehydrogenase Deficiency
Restrictive ventilatory defect, Dyspnea, Cardiorespiratory arrest, Dysphagia, Hepatic periportal ... ORPHA:26791
3-Methylglutaconic Aciduria Type 7
Hepatic steatosis, Hypothyroidism, Neutropenia, Respiratory failure, Infection associated neutrop... ORPHA:445038
Combined Oxidative Phosphorylation Deficiency 4
Hepatomegaly, Respiratory failure, Death in infancy OMIM:610678
Malignant Atrophic Papulosis
Peritonitis, Intestinal perforation, Gastrointestinal hemorrhage, Gastrointestinal infarctions, P... ORPHA:679
Pseudomyxoma Peritonei
Inflammation of the large intestine, Abnormality of the peritoneum, Respiratory insufficiency, In... ORPHA:26790
Cryptogenic Organizing Pneumonia
Ground-glass opacification, Abnormal sputum, Wheezing, Restrictive ventilatory defect, Respirator... ORPHA:1302
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Bilateral lung agenesis, Tracheal atresia, Respiratory insufficiency OMIM:601612
Reticulocytosis, Hemolytic anemia, Stomatocytosis, Splenomegaly OMIM:185020
Interstitial Lung And Liver Disease
Cirrhosis, Intraalveolar phospholipid accumulation, Dyspnea, Hepatic steatosis, Hypothyroidism, C... OMIM:615486
Congenital Alveolar Capillary Dysplasia
Respiratory distress, Intestinal malrotation, Aganglionic megacolon, Asplenia, Anal atresia, Volv... ORPHA:210122
Sea-Blue Histiocytosis
Hepatomegaly, Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly, Mediastinal lymphadenopathy... ORPHA:158029
Ciliary Dyskinesia, Primary, 30
Situs inversus totalis, Bronchiectasis, Ciliary dyskinesia, Absent outer dynein arms, Nasal polyp... OMIM:616037
Gaucher Disease, Type I
Dyspnea, Epistaxis, Hepatomegaly, Pancytopenia, Thrombocytopenia, Splenomegaly, Abnormal pulmonar... OMIM:230800
Waardenburg Syndrome Type 3
Narrow nasal bridge, Tracheomalacia, Atelectasis ORPHA:896
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Hepatomegaly, Cryptorchidism, Respiratory failure, Death in infancy ORPHA:1194
Red Cell Permeability Defect
Elliptocytosis OMIM:179650
Mirage Syndrome
Cryptorchidism, Hypergonadotropic hypogonadism, Lymphopenia, Gastroesophageal reflux, Achalasia, ... OMIM:617053
Snakebite Envenomation
Pseudobulbar paralysis, Epistaxis, Hypopituitarism, Respiratory paralysis, Thrombocytopenia, Neur... ORPHA:449285
Multiple Mitochondrial Dysfunctions Syndrome 3
High palate, Respiratory failure, Respiratory insufficiency OMIM:615330
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hiatus hernia, Pancreatic cysts, Choanal atresia, Umbilical hernia, Cholestasis, Hepatic fibrosis... OMIM:610199
Niemann-Pick Disease, Type C2
Bone-marrow foam cells, Dysphagia, Respiratory insufficiency, Hepatomegaly, Sea-blue histiocytosi... OMIM:607625
Intermediate Nemaline Myopathy
Dysphagia, High, narrow palate, Respiratory failure ORPHA:171433
Nephronophthisis 2
Respiratory failure, Pulmonary hypoplasia, Situs inversus totalis, Respiratory insufficiency OMIM:602088
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy, Pulmonary hypoplasia, Anteverted nares, Intestinal malrotation OMIM:601163
Lethal Congenital Contracture Syndrome 11
Pulmonary hypoplasia OMIM:617194
Peritonitis, Abnormal sputum, Pleuritis, Respiratory distress, Dyspnea, Lymphadenitis, Pleural ef... ORPHA:31204
Elliptocytosis 3
Chronic hemolytic anemia, Elliptocytosis, Decreased mean corpuscular volume, Pyropoikilocytosis OMIM:617948
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Pulmonary hypoplasia, Respiratory failure, Respiratory distress, Depressed nasal bridge OMIM:617895
Arthrogryposis Multiplex Congenita 6
Neonatal death, Respiratory failure, Death in infancy, Death in childhood OMIM:619334
Renal Dysplasia-Limb Defects Syndrome
Cryptorchidism, Maternal diabetes, Respiratory distress, Neonatal death, Pulmonary hypoplasia, Re... OMIM:266910
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia, Increased mean corpuscular volume OMIM:618849
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Apnea, Narrow palate, Bulbous nose, Respiratory distress, Macrovesicular hepatic steatosis, Respi... OMIM:608836
Amyotrophic Lateral Sclerosis
Dyspnea, Abnormal respiratory system physiology, Laryngospasm, Xerostomia, Respiratory failure ORPHA:803
Meckel Syndrome, Type 6
Anencephaly, Hepatic fibrosis, Cystic liver disease, Pulmonary hypoplasia, Cleft palate, Bile duc... OMIM:612284
Congenital Multicore Myopathy With External Ophthalmoplegia
Cryptorchidism, Abnormal respiratory system physiology, Pneumonia, Respiratory failure, High pala... ORPHA:98905
Surfactant Metabolism Dysfunction, Pulmonary, 5
Ground-glass opacification, Intraalveolar phospholipid accumulation, Dyspnea, Interlobular septal... OMIM:614370
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Pulmonary hypoplasia, Anteverted nares, Adrenal hypoplasia OMIM:613124
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Pulmonary hypoplasia, Intestinal malrotation, Aqueductal stenosis, Splenomegaly ORPHA:3035
Atelosteogenesis, Type Ii
Stillbirth, Death in infancy, Respiratory insufficiency, Pulmonary hypoplasia, Cleft palate, Depr... OMIM:256050
Annular Pancreas
High intestinal obstruction, Duodenal stenosis, Annular pancreas ORPHA:675
Pancreas, Annular
High intestinal obstruction, Duodenal stenosis, Annular pancreas OMIM:167750
Mitchell-Riley Syndrome
Annular pancreas, Biliary atresia, Intestinal malrotation, Jejunal atresia, Cholestasis, Duodenal... OMIM:615710
Hypocomplementemic Urticarial Vasculitis
Restrictive ventilatory defect, Dyspnea, Pleural effusion, Emphysema, Cough, Hepatomegaly, Spleno... ORPHA:36412
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Pulmonary opacity, Intraalveolar phospholipid accumulation, Interstitial pneumonitis, Abnormal pu... ORPHA:217563
1Q41Q42 Microdeletion Syndrome
Cryptorchidism, Underdeveloped nasal alae, Hypergonadotropic hypogonadism, Holoprosencephaly, Hyp... ORPHA:250999
Ciliary Dyskinesia, Primary, 42
Chronic pulmonary obstruction, Bronchiectasis, Nasal polyposis, Recurrent sinusitis, Pneumonia, R... OMIM:618695
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Cleft palate, Pulmonary hypoplasia, Abnormal lung lobation ORPHA:2631
Autosomal Dominant Hyper-Ige Syndrome
Cough, Atelectasis, Wide nasal bridge, Cleft palate, Recurrent respiratory infections, Eosinophilia ORPHA:2314
Peritonitis, Pulmonary opacity, Air crescent sign, Ground-glass opacification, Lung abscess, Bron... ORPHA:228119
Mitochondrial Complex I Deficiency, Nuclear Type 18
Respiratory failure, Death in infancy OMIM:618240
Thoraco-Abdominal Enteric Duplication
Intestinal malrotation, Respiratory insufficiency, Hepatomegaly, Meningocele, Duodenal stenosis ORPHA:1759
Pulmonary Capillary Hemangiomatosis
Ground-glass opacification, Pulmonary capillary hemangiomatosis, Interlobular septal thickening, ... ORPHA:199241
Congenital Lobar Emphysema
Emphysema, Respiratory distress ORPHA:1928
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Dyspnea, Hypergonadotropic hypogonadism, Dysphagia, Respiratory insufficiency due to muscle weakn... ORPHA:352447
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Elevated red cell adenosine deaminase level, Anisopoikilocytosis, Hemolytic anemia, Stomatocytosis OMIM:102730
22Q11.2 Deletion Syndrome
Cryptorchidism, Bulbous nose, Choanal atresia, Intestinal malrotation, Abnormality of the tonsils... ORPHA:567
Motor Neuron Disease With Dementia And Ophthalmoplegia
Respiratory failure, Respiratory insufficiency OMIM:600333
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory tract infection, Macroglossia, Sleep apnea, Respiratory distress, Exertional dyspnea,... ORPHA:365
Ménétrier Disease
Multiple gastric polyps, Hypochromic microcytic anemia, Gastrointestinal hemorrhage, Helicobacter... ORPHA:2494
Ciliary Dyskinesia, Primary, 18
Abnormal ciliary motility, Situs inversus totalis, Ciliary dyskinesia, Absent outer dynein arms, ... OMIM:614874
Microcytic anemia, Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:848
Hydrocephalus With Associated Malformations
Pulmonary hypoplasia, Intestinal malrotation, Hydrocephalus OMIM:236640
Griscelli Syndrome Type 2
Hemophagocytosis, Neutropenia, Hepatomegaly, Jaundice, Pancytopenia, Splenomegaly, Pulmonary infi... ORPHA:79477
Bloom Syndrome
Respiratory tract infection, Recurrent tonsillitis, Chronic pulmonary obstruction, Recurrent gast... ORPHA:125
Primary Pulmonary Hypoplasia
Abnormal breath sound, Apnea, Restrictive ventilatory defect, Abnormal pulmonary artery morpholog... ORPHA:2257
Postsynaptic Congenital Myasthenic Syndromes
Restrictive ventilatory defect, Exertional dyspnea, Orthopnea, Respiratory failure, High palate, ... ORPHA:98913
Microphthalmia, Syndromic 9
Cryptorchidism, Respiratory insufficiency, Wide nasal bridge, Pulmonary hypoplasia, Multilobulate... OMIM:601186
Sarcoidosis, Susceptibility To, 1
Bronchiectasis, Cough, Generalized lymphadenopathy, Pancytopenia, Pulmonary arterial hypertension... OMIM:181000
Autoimmune Lymphoproliferative Syndrome, Type V
Autoimmune thrombocytopenia, Bronchiectasis, Autoimmune hemolytic anemia, Recurrent upper respira... OMIM:616100
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Macroglossia, Hypoventilation, Dysphagia, Gastroesophageal reflux, Respiratory insufficiency, Ate... ORPHA:258
Campomelia, Cumming Type
Pancreatic cysts, Polysplenia, Polycystic liver disease OMIM:211890
Atelosteogenesis Type I
Laryngotracheal stenosis, Abnormal pancreatic duct morphology, Laryngeal stenosis, Pulmonary hypo... ORPHA:1190
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Bulbous nose, Stillbirth, Neonatal death, Pulmonary hypoplasia, Hydranencephaly, Anteverted nares OMIM:236500
Hb Bart'S Hydrops Fetalis
Abnormal hemoglobin, Anemia, Splenomegaly ORPHA:163596
Severe Congenital Nemaline Myopathy
Dysphagia, Pulmonary hypoplasia, Respiratory failure ORPHA:171430
Congenital Tricuspid Valve Dysplasia
Anomalous pulmonary venous return, Respiratory failure requiring assisted ventilation, Hepatomega... ORPHA:555874
Proximal Spinal Muscular Atrophy
Restrictive ventilatory defect, Hypoventilation, Dysphagia, Gastroesophageal reflux, Respiratory ... ORPHA:70
Congenital Diaphragmatic Hernia
Hypoxemia, Pulmonary hypoplasia, Intestinal malrotation, Respiratory distress ORPHA:2140
Alveolar Echinococcosis
Abnormality of mesentery morphology, Dyspnea, Hepatic cysts, Pancreatic cysts, Biliary cirrhosis,... ORPHA:284
Immunodeficiency 57 With Autoinflammation
Inflammation of the large intestine, T lymphocytopenia, Bronchiectasis, Reduced natural killer ce... OMIM:618108
Mitochondrial Complex I Deficiency, Nuclear Type 10
Dysphagia, Respiratory failure, Apnea, Central hypoventilation OMIM:618233
Mixed Connective Tissue Disease
Hemolytic anemia, Pleuritis, Gastrointestinal hemorrhage, Pulmonary fibrosis, Dyspnea, Gastroesop... ORPHA:809
Shwachman-Diamond Syndrome 2
Exocrine pancreatic insufficiency, Hyperechogenic pancreas, Neutropenia, Steatorrhea, Normocytic ... OMIM:617941
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Pancreatic cysts, Polycystic liver disease, Death in infancy, Pancreatic fibrosis, Respiratory in... OMIM:208500
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
T lymphocytopenia, Hemolytic anemia, Pulmonary infiltrates, Pulmonary interstitial lymphocyte inf... OMIM:606367
Fetal Akinesia Deformation Sequence
Cryptorchidism, Intestinal hypoplasia, Respiratory insufficiency, Pulmonary hypoplasia, Cleft pal... ORPHA:994
Surfactant Metabolism Dysfunction, Pulmonary, 4
Ground-glass opacification, Restrictive ventilatory defect, Intraalveolar phospholipid accumulati... OMIM:300770
Riddle Syndrome
Recurrent pneumonia, Restrictive ventilatory defect, Pulmonary fibrosis, Recurrent sinusitis, Gen... ORPHA:420741
Bare Lymphocyte Syndrome, Type I
Recurrent bronchitis, Bronchiectasis, Bronchiolitis, Emphysema, Nasal polyposis, Chronic sinusitis OMIM:604571
Tonne-Kalscheuer Syndrome
Cryptorchidism, Dysphagia, Wide nasal bridge, Pulmonary hypoplasia, Decreased testicular size, Pr... OMIM:300978
Pendred Syndrome
Goiter, Hypothyroidism, Respiratory insufficiency, Thyroid carcinoma, Tracheal stenosis, Hyperpar... ORPHA:705
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Narrow palate, Respiratory failure, Anteverted nares, Bulbous nose OMIM:616505
Combined Oxidative Phosphorylation Deficiency 37
Respiratory failure, Respiratory insufficiency OMIM:618329
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Ventilator dependence with inability to wean, Inspiratory stridor, Respiratory failure, Hyperhidr... OMIM:604320
Neuromyelitis Optica Spectrum Disorder
Respiratory failure ORPHA:71211
Nk-Cell Enteropathy
Gastric ulcer, Increased T cell count, Hematochezia, Gastroesophageal reflux, Abnormality of the ... ORPHA:263665
Letterer-Siwe Disease
Dyspnea, Pulmonary infiltrates, Neutropenia, Thrombocytopenia, Jaundice, Anemia, Hepatosplenomegaly OMIM:246400
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Respiratory insufficiency, Thrombocytopenia, Respiratory failure, Anemia, Leukopenia, Pulmonary a... OMIM:613845
Multiple Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Hepatic steatosis, Hepatomegaly, Jaundice, Neonatal death, Pulmonary hypopl... OMIM:231680
Boutonneuse Fever
Lymphadenopathy, Thrombocytopenia, Respiratory failure, Leukopenia, Cervical lymphadenopathy ORPHA:83313
Mitochondrial Trifunctional Protein Deficiency
Respiratory insufficiency, Cholestasis, Respiratory failure, Hypoparathyroidism, Diffuse hepatic ... ORPHA:746
Metatropic Dysplasia
Respiratory failure, Respiratory insufficiency OMIM:156530
Emphysema, Anemia, Respiratory insufficiency ORPHA:436
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Pulmonary hypoplasia, Pancreatic fibrosis, Depressed nasal bridge OMIM:615503
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Cryptorchidism, Erythroid hypoplasia, Monocytosis, Lymphopenia, Neutropenia, Respiratory insuffic... OMIM:612541
Autosomal Dominant Cutis Laxa
Emphysema, Bowel diverticulosis, Umbilical hernia ORPHA:90348
Igg4-Related Submandibular Gland Disease
Prostatitis, Enlarged lacrimal glands, Sialadenitis, Abnormal salivary gland morphology, Enlargem... ORPHA:449432
Peripartum Cardiomyopathy
Dyspnea, Exertional dyspnea, Orthopnea, Crackles, Respiratory failure, Asthma, Anemia, Paroxysmal... ORPHA:563
Short Rib-Polydactyly Syndrome
Gastrointestinal atresia, Situs inversus totalis, Hepatic cysts, Abnormal larynx morphology, Inte... ORPHA:1505
Nephropathy With Pretibial Epidermolysis Bullosa And Deafness
Reduced beta/alpha synthesis ratio OMIM:609057
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Respiratory failure, Anemia OMIM:615838
Mitochondrial Trifunctional Protein Deficiency
Respiratory failure, Respiratory insufficiency, Cholestasis OMIM:609015
Cystic Fibrosis With Helicobacter Pylori Gastritis, Megaloblastic Anemia, And Mental Retardation
Exocrine pancreatic insufficiency, Megaloblastic anemia, Emphysema, Biliary cirrhosis, Recurrent ... OMIM:219721
Short nose, Respiratory distress, Tracheomalacia, Respiratory insufficiency, Abnormal liver lobul... OMIM:608022
Relapsing Polychondritis
Dyspnea, Cough, Atelectasis, Laryngomalacia, Hepatitis, Abnormal pattern of respiration, Anterior... ORPHA:728
Esophageal Atresia
Morphological abnormality of the gastrointestinal tract, Laryngotracheomalacia, Choanal atresia, ... ORPHA:1199
Sandestig-Stefanova Syndrome
High palate, Respiratory failure, Wide nasal bridge OMIM:618804
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory failure, Communicating hydrocephalus, Respiratory insufficiency OMIM:273730
Beemer-Ertbruggen Syndrome
Cryptorchidism, Bulbous nose, Respiratory insufficiency, Wide nasal bridge, Thrombocytopenia, Com... ORPHA:1237
Absent tonsils, Paralytic ileus, Dysphagia, Respiratory failure requiring assisted ventilation, R... ORPHA:2912
Congenital Muscular Dystrophy, Ullrich Type
Respiratory failure ORPHA:75840
Car T Cell Therapy-Associated Cytokine Release Syndrome
Pleural effusion, Respiratory failure, Pulmonary edema, Tachypnea, Hypoxemia ORPHA:542323
Niemann-Pick Disease Type C
Bone-marrow foam cells, Abnormal lung morphology, Pulmonary infiltrates, Dysphagia, Respiratory i... ORPHA:646
Mercury Poisoning
Dyspnea, Respiratory failure, Respiratory distress, Interstitial pneumonitis ORPHA:330021
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema OMIM:614100
Majeed Syndrome
Hypochromic microcytic anemia, Leukocytosis, Congenital hypoplastic anemia, Cough, Hepatomegaly, ... ORPHA:77297
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Restrictive ventilatory defect, Short nose, Respiratory distress, Tracheomalacia, Atelectasis, Re... ORPHA:536467
Oculogastrointestinal Muscular Dystrophy
Spontaneous esophageal perforation, Abnormality of the gastrointestinal tract, Intestinal pseudo-... ORPHA:1876
Minicore Myopathy With External Ophthalmoplegia
High palate, Pulmonary hypoplasia, Recurrent respiratory infections, Respiratory insufficiency OMIM:255320
Pericardial And Diaphragmatic Defect
Pulmonary sequestration, Meckel diverticulum, Morphological abnormality of the gastrointestinal t... ORPHA:2847
Spinocerebellar Ataxia Type 1
Dysphagia, Respiratory failure ORPHA:98755
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Respiratory failure, Reduced vital capacity, Nocturnal hypoventilation OMIM:603689
Kagami-Ogata Syndrome
Laryngomalacia, Hepatomegaly, Pulmonary hypoplasia, Splenomegaly, Pulmonary arterial hypertension... OMIM:608149
Cutis Laxa-Marfanoid Syndrome
Emphysema ORPHA:171719
Pearson Marrow-Pancreas Syndrome
Refractory sideroblastic anemia, Pancreatic fibrosis, Type I diabetes mellitus, Diabetes mellitus... OMIM:557000
Gillessen-Kaesbach-Nishimura Syndrome
Periportal fibrosis, Pulmonary hypoplasia, Underdeveloped nasal alae, Abnormal lung lobation OMIM:263210
Glycogen Storage Disease Ii
Macroglossia, Dyspnea, Respiratory insufficiency, Respiratory insufficiency due to muscle weaknes... OMIM:232300
Thanatophoric Dysplasia
Pulmonary hypoplasia, Hydrocephalus, Respiratory insufficiency, Depressed nasal bridge ORPHA:2655
Tuberous Sclerosis Complex
Parathyroid hyperplasia, Respiratory tract infection, Pancreatic endocrine tumor, Respiratory dis... ORPHA:805
Nijmegen Breakage Syndrome
Hemolytic anemia, Anal stenosis, Autoimmune hemolytic anemia, Recurrent respiratory infections, R... ORPHA:647
Pentalogy Of Cantrell
Polysplenia, Anencephaly, Pulmonary hypoplasia, Cleft palate, Absent gallbladder, Hydrocephalus ORPHA:1335
Coenzyme Q10 Deficiency, Primary, 8
Pulmonary hypoplasia, Respiratory distress OMIM:616733
S-Adenosylhomocysteine Hydrolase Deficiency
Hepatocellular carcinoma, Respiratory failure, Abnormality of the liver ORPHA:88618
Radio-Renal Syndrome
Dyspnea, Respiratory distress, Pleural effusion, Respiratory failure, Chylothorax, High, narrow p... ORPHA:3015
Campomelia, Cumming Type
Pancreatic cysts, Death in infancy, Hepatomegaly, Abnormality of the pancreas, Cleft palate, Abno... ORPHA:1318
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Renal Tubular Dysgenesis
Pulmonary hypoplasia ORPHA:3033
Czeizel-Losonci Syndrome
Spina bifida, Hydrocephalus, Hypoplastic nipples, Pulmonary hypoplasia, Spina bifida occulta, Hig... ORPHA:2437
Otopalatodigital Syndrome, Type Ii
Cryptorchidism, Stillbirth, Respiratory insufficiency, Respiratory failure, Cleft palate, Hydroce... OMIM:304120
Combined Oxidative Phosphorylation Deficiency 3
Hepatomegaly, Respiratory failure, Death in childhood, Respiratory insufficiency OMIM:610505
Pagod Syndrome
Spina bifida, Situs inversus totalis, Abnormal testis morphology, Death in infancy, Pulmonary art... ORPHA:991
Hereditary Motor And Sensory Neuropathy, Type Iic
Intercostal muscle weakness, Obstructive sleep apnea, Stridor, Respiratory failure OMIM:606071
Feingold Syndrome 1
Accessory spleen, Polysplenia, Esophageal atresia, Wide nasal bridge, Duodenal atresia, Asplenia,... OMIM:164280
Greenberg Dysplasia
Abnormal lung lobation, Tracheal calcification, Stillbirth, Pleural effusion, Extramedullary hema... OMIM:215140
Fanconi Renotubular Syndrome 5
Emphysema, Decreased DLCO, Lung adenocarcinoma, Pulmonary fibrosis OMIM:618913
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Cryptorchidism, Wide nasal bridge, Pulmonary hypoplasia, Pulmonary artery atresia, Anteverted nar... OMIM:618316
Rajab Interstitial Lung Disease With Brain Calcifications 1
Cirrhosis, Tachypnea, Hepatic steatosis, Emphysema, High palate, Intestinal malrotation, Gastroes... OMIM:613658
Glycine Encephalopathy With Normal Serum Glycine
Apnea, Dysphagia, Respiratory failure, Anteverted nares, Depressed nasal bridge OMIM:617301
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Pulmonary hypoplasia ORPHA:2141
Tetraamelia Syndrome 1
Hydrocephalus, Choanal atresia, Asplenia, Pulmonary hypoplasia, Anal atresia, Cleft palate, Perip... OMIM:273395
Nephronophthisis 13
Hepatic cysts, Pancreatic cysts OMIM:614377
Pelizaeus-Merzbacher Disease, Connatal Form
Respiratory failure, Abnormal morphology of musculature of pharynx, Laryngeal stridor ORPHA:280210
Gracile Bone Dysplasia
Ankyloglossia, Hypoplastic spleen, Hydrocephalus, Asplenia OMIM:602361
Congenital Tracheal Stenosis
Meckel diverticulum, Abnormal lung lobation, Abnormal stomach morphology, Abnormal lung morpholog... ORPHA:141127
Maternal Uniparental Disomy Of Chromosome 2
Respiratory infections in early life, Hypothyroidism, Bilateral cryptorchidism, Neonatal respirat... ORPHA:96179
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Macroglossia, Large placenta, Umbilical hernia, Laryngomalacia, Respiratory failure, Anteverted n... ORPHA:254528
Fryns Syndrome
Meckel diverticulum, Cryptorchidism, Stillbirth, Arrhinencephaly, Polysplenia, Intestinal malrota... OMIM:229850
Waldenström Macroglobulinemia
Gastrointestinal hemorrhage, Abnormality of neutrophils, Pleural effusion, Epistaxis, Respiratory... ORPHA:33226
Arterial Tortuosity Syndrome
Hiatus hernia, Median cleft lip and palate, Esophagitis, Dyspnea, Short nose, Respiratory distres... ORPHA:3342
Drug Rash With Eosinophilia And Systemic Symptoms
Lymphocytosis, Dyspnea, Interstitial pneumonitis, Thyroiditis, Cough, Lymphadenopathy, Hepatitis,... ORPHA:139402
Cutis Laxa, Autosomal Recessive, Type Ic
Emphysema, Gastroesophageal reflux, Pyloric stenosis, Tracheomalacia, Wide nasal bridge, Laryngom... OMIM:613177
Senior-Loken Syndrome 8
Hepatic cysts, Pancreatic cysts OMIM:616307
Meier-Gorlin Syndrome 6
Cryptorchidism, Short nose, Underdeveloped nasal alae, Emphysema, Gastroesophageal reflux, Decrea... OMIM:616835
Pearson Syndrome
Reticulocytosis, Neutropenia, Pancreatic fibrosis, Pancytopenia, Anemia, Thrombocytopenia, Hypopa... ORPHA:699
Lethal Congenital Contracture Syndrome 10
Hypoplasia of the thymus, High palate, Pulmonary hypoplasia, Narrow palate OMIM:617022
Autoimmune Polyendocrinopathy Type 3
Non-caseating epithelioid cell granulomatosis, Graves disease, Autoimmune thrombocytopenia, Anter... ORPHA:227982
Lethal Congenital Contracture Syndrome 1
Neonatal death, Pulmonary hypoplasia OMIM:253310
Meckel Syndrome, Type 7
Situs inversus totalis, Pancreatic cysts, Biliary cirrhosis, Cholestasis, Portal hypertension, Bi... OMIM:267010
Oculocerebrofacial Syndrome, Kaufman Type
Dyspnea, High, narrow palate, Respiratory failure, Respiratory distress ORPHA:2707
Achondrogenesis Type 2
Pulmonary hypoplasia, Cardiorespiratory arrest ORPHA:93296
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory failure, Communicating hydrocephalus ORPHA:1861
Spondyloepimetaphyseal Dysplasia, Krakow Type
Allergic rhinitis, Asthma, High palate, Hydrocephalus, Annular pancreas OMIM:618162
Cutis Laxa, Autosomal Dominant 1
Emphysema OMIM:123700
Von Hippel-Lindau Syndrome
Pulmonary capillary hemangiomatosis, Pheochromocytoma, Pancreatic cysts, Polycythemia, Paragangli... OMIM:193300
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
High palate, Pulmonary hypoplasia OMIM:617468
Oculocerebrorenal Syndrome Of Lowe
Cryptorchidism, Narrow palate, Abnormal calcium-phosphate regulating hormone level, Gastroesophag... ORPHA:534
Granulomatosis With Polyangiitis
Pleuritis, Cough, Subglottic stenosis, Elevated bronchoalveolar lavage fluid neutrophil proportio... OMIM:608710
Muscular Dystrophy, Duchenne Type
Hypoventilation, Respiratory failure, Respiratory insufficiency OMIM:310200
Fibrodysplasia Ossificans Progressiva
Respiratory failure, Respiratory insufficiency OMIM:135100
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Peritonitis, Elevated pulmonary artery pressure, Respiratory failure requiring assisted ventilati... OMIM:619351
Idiopathic Hypereosinophilic Syndrome
Cough, Generalized lymphadenopathy, Chronic hepatitis, Pulmonary embolism, Anemia, Neutrophilia, ... ORPHA:3260
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Abnormality of the larynx, Intestinal malrotation, Hamartoma of tongue, Pancreatic fibrosis, Hepa... OMIM:263520
Cardiac-Urogenital Syndrome
Cryptorchidism, Scimitar anomaly, Accessory spleen, Intestinal malrotation, Pulmonary hypoplasia,... OMIM:618280
Peritonitis, Respiratory distress, Splenic abscess, Pneumonia, Jaundice, Respiratory failure, Cho... ORPHA:533
Infantile Krabbe Disease
Gastroesophageal reflux, Respiratory failure, Respiratory distress, Laryngomalacia ORPHA:206436
Autoimmune Polyendocrinopathy Type 4
Non-caseating epithelioid cell granulomatosis, Autoimmune thrombocytopenia, Anterior pituitary dy... ORPHA:227990
Epidermodysplasia Verruciformis, Susceptibility To, 4
Emphysema OMIM:618307
Leigh Syndrome With Cardiomyopathy
Apnea, Respiratory distress, Dysphagia, Central hypoventilation, Respiratory failure, Anemia ORPHA:70474
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
T lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the ... OMIM:619313
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Pulmonary hypoplasia, Bilateral lung agenesis, Pulmonary artery stenosis, Cleft palate, Adrenal g... OMIM:611812
Cirrhosis, Reticulocytosis, Hepatic steatosis, Hypothyroidism, Steatorrhea, Hepatic fibrosis, Hep... ORPHA:14
Opitz Gbbb Syndrome, Type Ii
Cryptorchidism, Hiatus hernia, Aspiration, Anal stenosis, Dysphagia, Laryngeal cleft, Umbilical h... OMIM:145410
Caudal Regression Sequence
Cryptorchidism, Maternal diabetes, Arrhinencephaly, Pulmonary hypoplasia, Anal atresia ORPHA:3027
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Respiratory failure, Death in infancy OMIM:617186
Combined Oxidative Phosphorylation Defect Type 23
Stridor, Respiratory failure, Paroxysmal dyspnea ORPHA:444013
Carney Triad
Gastrointestinal stroma tumor, Adrenocortical adenoma, Gastrointestinal hemorrhage, Pheochromocyt... ORPHA:139411
Marden-Walker Syndrome
Cryptorchidism, Zollinger-Ellison syndrome, Pulmonary hypoplasia, Cleft palate, High palate, High... OMIM:248700
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Interstitial pneumonitis, Thyroiditis, Neutropenia, Pneumonia, Ileus, Lymphadenopathy, Iron defic... ORPHA:37042
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Dysphagia, Respiratory failure requiring assisted ventilation, Respiratory failure, Recurrent pne... ORPHA:496641
Granulomatosis With Polyangiitis
Prostatitis, Restrictive ventilatory defect, Pleuritis, Chronic pulmonary obstruction, Gastrointe... ORPHA:900
Spondylospinal Thoracic Dysostosis
Pulmonary hypoplasia OMIM:601809
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia OMIM:612561
Wolfram Syndrome
Abnormality of mesentery morphology, Gastric ulcer, Male hypogonadism, Gastrointestinal hemorrhag... ORPHA:3463
Pulmonary Alveolar Proteinosis With Hypogammaglobulinemia
Intraalveolar phospholipid accumulation, Recurrent respiratory infections, Respiratory insufficiency OMIM:618042
Jacobsen Syndrome
Cryptorchidism, Short nose, Hydrocephalus, Holoprosencephaly, Thrombocytopenia, Pyloric stenosis,... OMIM:147791
Dyssegmental Dysplasia, Silverman-Handmaker Type
Cryptorchidism, Respiratory insufficiency, Wide nasal bridge, Pulmonary hypoplasia, Cleft palate,... ORPHA:1865
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Gastric ulcer, Pulmonary fibrosis, Spontaneous, recurrent epistaxis, Cholelithiasis, Esophageal v... ORPHA:2072
Odontochondrodysplasia 1
Pulmonary hypoplasia, Death in infancy, Recurrent respiratory infections, Respiratory distress OMIM:184260
Costello Syndrome
Macroglossia, Obstructive sleep apnea, Pyloric stenosis, Tracheomalacia, Respiratory insufficienc... OMIM:218040
Beta-Thalassemia Intermedia
Persistence of hemoglobin F, Leukocytosis, Extramedullary hematopoiesis, Erythroid hyperplasia, I... ORPHA:231222
Autoimmune Lymphoproliferative Syndrome
Lymphocytosis, Abnormal proportion of CD4-positive T cells, Reticulocytosis, Thyroiditis, Decreas... ORPHA:3261
Diffuse Cutaneous Systemic Sclerosis
Dyspnea, Pulmonary infiltrates, Pulmonary fibrosis, Dysphagia, Gastroesophageal reflux, Xerostomi... ORPHA:220393
Meier-Gorlin Syndrome 4
Cryptorchidism, Emphysema, Breast hypoplasia OMIM:613804
Chand Syndrome
Hypohidrosis, Atelectasis, Bifid tongue, Cleft palate, Depressed nasal bridge ORPHA:1401
Serkal Syndrome
Pulmonary hypoplasia, Malrotation of small bowel, Abnormality of the adrenal glands ORPHA:139466
Respiratory Underresponsiveness To Hypoxia And Hypercapnia
Hypercapnia, Respiratory failure, Respiratory insufficiency OMIM:267480
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Exocrine pancreatic insufficiency, Hyperechogenic pancreas, Hypothyroidism, Hepatomegaly, Delayed... ORPHA:456312
Lethal Congenital Contracture Syndrome 2
Respiratory failure OMIM:607598
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hepatic fibrosis, Short uvula, Pulmonary hypoplasia, Cleft palate, High palate OMIM:614091
Renal Tubular Dysgenesis
Pulmonary hypoplasia, Respiratory insufficiency OMIM:267430
Vacterl With Hydrocephalus
Cryptorchidism, Spina bifida, Hydrocephalus, Arrhinencephaly, Esophageal atresia, Aqueductal sten... ORPHA:3412
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Thrombocytopenia, Hypochromic microcytic anemia, Respiratory failure ORPHA:3240
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Cryptorchidism, Macroglossia, Restrictive ventilatory defect, Large placenta, Spinal dysraphism, ... ORPHA:96334
Genitopatellar Syndrome
Cryptorchidism, Apnea, Gastroesophageal reflux, Pulmonary hypoplasia, Prominent nasal bridge, Wid... ORPHA:85201
Chromosome 13Q33-Q34 Deletion Syndrome
Cryptorchidism, Pyloric stenosis, Choanal atresia, Anencephaly, Wide nasal bridge, Pulmonary hypo... OMIM:619148
Steinert Myotonic Dystrophy
Male hypogonadism, Respiratory failure requiring assisted ventilation, Respiratory insufficiency,... ORPHA:273
Congenital Fiber-Type Disproportion Myopathy
Dysphagia, Hypercapnia, Respiratory insufficiency due to muscle weakness, Intercostal muscle weak... ORPHA:2020
Jacobsen Syndrome
Cryptorchidism, Spina bifida, Short nose, Anteverted nares, Death in infancy, Intestinal malrotat... ORPHA:2308
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Misalignment of the pulmonary veins, Intestinal malrotation, Alveolar capillary dysplasia, Pulmon... OMIM:265380
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Absent nasal bridge, Laryngeal hypoplasia, Hamartoma of tongue, Esophageal diverticulum, Neonatal... OMIM:617925
Mitochondrial Complex I Deficiency, Nuclear Type 1
Hepatomegaly, Respiratory failure, Respiratory insufficiency OMIM:252010
Netherton Syndrome
Emphysema, Malabsorption, Recurrent respiratory infections, Asthma ORPHA:634
Bronchiectasis, Cough, Leukopenia, Anemia, Abnormal nasal mucosa morphology, Lymphadenopathy, Abn... ORPHA:797
Orofaciodigital Syndrome I
Ovarian cyst, Underdeveloped nasal alae, Tongue nodules, Hepatic cysts, Pancreatic cysts, Wide na... OMIM:311200
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Severe B lymphocytopenia, Cryptorchidism, Respiratory distress, Underdeveloped nasal alae, Biliar... ORPHA:83617
Tetrasomy 5P
Short nose, Hydrocephalus, Respiratory distress, Wide nasal bridge, Pulmonary hypoplasia, Pulmona... ORPHA:3309
Peritonitis, Respiratory distress, Hydrocephalus, Parenchymal consolidation, Cough, Exudative ple... ORPHA:228123
Meckel Syndrome, Type 1
Cryptorchidism, Accessory spleen, Adrenal hypoplasia, Abnormality of the larynx, Malformation of ... OMIM:249000
Severe Generalized Junctional Epidermolysis Bullosa
Gastrointestinal inflammation, Dyspnea, Respiratory distress, Pneumonia, Laryngeal stenosis, Esop... ORPHA:79404
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Cryptorchidism, Respiratory insufficiency, Pulmonary hypoplasia, Anal atresia, Bifid tongue, Lobu... OMIM:616300
Fryns Syndrome
Cryptorchidism, Gastroesophageal reflux, Intestinal malrotation, Aganglionic megacolon, Wide nasa... ORPHA:2059
Meckel Syndrome
Cryptorchidism, Accessory spleen, Situs inversus totalis, Pancreatic cysts, Aplasia/Hypoplasia of... ORPHA:564
Autosomal Recessive Multiple Pterygium Syndrome
Cryptorchidism, Morphological abnormality of the gastrointestinal tract, Umbilical hernia, Neonat... ORPHA:2990
Fanconi Anemia, Complementation Group D2
Cryptorchidism, Hydrocephalus, Hypergonadotropic hypogonadism, Neutropenia, Esophageal atresia, R... OMIM:227646
Lissencephaly Type Iii And Bone Dysplasia
Pulmonary hypoplasia OMIM:601160
Leigh Syndrome
Dysphagia, Neutropenia, Respiratory failure, Anemia, Abnormal pattern of respiration, Gastrointes... ORPHA:506
Thrombocytopenia-Absent Radius Syndrome
Meckel diverticulum, Spina bifida, Leukocytosis, Pancreatic cysts, Death in infancy, Thrombocytop... OMIM:274000
Aphalangy With Hemivertebrae
Pulmonary hypoplasia OMIM:207620
Beta-Thalassemia Major
Hypochromic microcytic anemia, Decreased mean corpuscular hemoglobin concentration, Persistence o... ORPHA:231214
Trisomy 8P
Cryptorchidism, Abnormal lung lobation, Malrotation of small bowel, Short nose, Recurrent upper r... ORPHA:264450
Primary Sjögren Syndrome
Chronic active hepatitis, Thyroiditis, Decreased proportion of CD4-positive helper T cells, Bilia... ORPHA:289390
Dominant Beta-Thalassemia
Hypochromic microcytic anemia, Decreased mean corpuscular hemoglobin concentration, Persistence o... ORPHA:231226
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Short nose, Pleural effusion, Wide nasal bridge, Pulmonary hypoplasia, Cleft palate, Anteverted n... OMIM:616897
Microphthalmia With Linear Skin Defects Syndrome
Dyspnea, Respiratory distress, Abnormal testis morphology, Abnormal rectum morphology, Wide nasal... ORPHA:2556
Meier-Gorlin Syndrome 7
Cryptorchidism, Anal stenosis, Choanal atresia, Pulmonary hypoplasia, Anal atresia, Cleft palate,... OMIM:617063
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Microcytic anemia ORPHA:98791
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Adrenal hypoplasia, Stillbirth, Umbilical hernia, Pulmonary hypoplasia, Thyroid hypoplasia OMIM:308050
Goodpasture Syndrome
Ground-glass opacification, Pulmonary hemorrhage, Restrictive ventilatory defect, Reticular patte... OMIM:233450
Lethal Congenital Contracture Syndrome Type 1
Pulmonary hypoplasia ORPHA:1486
Hypochromic microcytic anemia, Abnormal pancreas morphology, Refractory anemia, Elevated hepatic ... ORPHA:48818
Ulbright-Hodes Syndrome
Cryptorchidism, Maternal diabetes, Respiratory distress, Pulmonary hypoplasia, Respiratory failur... ORPHA:3404
Ear-Patella-Short Stature Syndrome
Cryptorchidism, Dyspnea, Respiratory distress, Breast aplasia, Respiratory failure, Cleft palate,... ORPHA:2554
Schinzel-Giedion Syndrome
Myeloid leukemia, Recurrent pneumonia, Macroglossia, Short nose, Respiratory distress, Annular pa... ORPHA:798
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Hypohidrosis, Dysphagia, Neonatal respiratory distress, Pulmonary hypoplasia, High palate OMIM:616866
Peroxisome Biogenesis Disorder 1A (Zellweger)
Cryptorchidism, Macroglossia, Adrenal hypoplasia, Intrahepatic biliary dysgenesis, Hepatomegaly, ... OMIM:214100
Syndromic Diarrhea
Cirrhosis, Thrombocytosis, Hypothyroidism, Lymphopenia, Villous atrophy, Peripheral pulmonary art... ORPHA:84064
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatic steatosis, Hypothyroidism, Steatorrhea, Pancreatic fibrosis, Hepatic fibrosis, Hepatomega... OMIM:616263
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Respiratory failure, Hydrocephalus OMIM:616538
Mosaic Trisomy 1
Hepatic agenesis, Wide nasal bridge, Pulmonary hypoplasia, Cleft palate, Pulmonary artery atresia... ORPHA:1692
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Hydrocele testis, Short nose, Anal stenosis, Gastroesophageal reflux, Pulmonary hypoplasia, Anal ... OMIM:614080
Platyspondylic Dysplasia, Torrance Type
Cleft palate, Pulmonary hypoplasia, Depressed nasal bridge ORPHA:85166
Myhre Syndrome
Cryptorchidism, Laryngotracheal stenosis, Respiratory insufficiency, Respiratory failure, Cleft p... OMIM:139210
Stuve-Wiedemann Syndrome
Apnea, Short nose, Pulmonary arterial medial hypertrophy, Dysphagia, Respiratory insufficiency, P... OMIM:601559
Renal Agenesis, Bilateral
Sirenomelia, Pulmonary hypoplasia, Cleft palate, Abnormal intestine morphology, Tracheoesophageal... ORPHA:1848
Williams Syndrome
Cryptorchidism, Peripheral pulmonary artery stenosis, Spina bifida occulta, Colonic diverticula, ... ORPHA:904
Distal Monosomy 12Q
Maturity-onset diabetes of the young, Bulbous nose, Biliary atresia, Esophageal atresia, Unilater... ORPHA:96149
Tarp Syndrome
Cryptorchidism, Apnea, Abnormal duodenum morphology, Tongue nodules, Extramedullary hematopoiesis... ORPHA:2886
Bohring-Opitz Syndrome
Apnea, Obstructive sleep apnea, Cholelithiasis, Wide nasal bridge, Cleft palate, Anteverted nares... ORPHA:97297
Loeys-Dietz Syndrome 4
Emphysema, Broad uvula, Bifid uvula, High palate, High, narrow palate, Pneumothorax, Eosinophilic... OMIM:614816
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii