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Gene: Git1 MGI:1927140

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
GIT ArfGAP 1
Synonyms:
p95Cat,  Cat-1

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Git1 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 Git1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Intellectual Developmental Disorder, Autosomal Recessive 3
Short attention span, Hyperactivity OMIM:608443
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Short attention span, Hyperactivity DECIPHER:19
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Surfactant Metabolism Dysfunction, Pulmonary, 1
Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Dyspnea, Desquamative interstit... OMIM:265120
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Apnea, Crazy paving pattern, Nodular pattern on pulmonary HRCT, Tachypnea, ... OMIM:610921
Asbestos Intoxication
Reduced forced vital capacity, Nonproductive cough, Decreased DLCO, Oxygen desaturation on exerti... ORPHA:2302
Bronchopulmonary Dysplasia
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Right ve... ORPHA:70589
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Cyanosis, Type II pneumocyte hypertrophy, Desquamative interstitial pneumon... OMIM:263000
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... ORPHA:66624
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Large for gestational age, Bruxism, Aggressive behavior ORPHA:356996
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... OMIM:610913
Muscular Hypertonia, Lethal
Respiratory distress, Death in infancy, Pneumonia OMIM:254120
Infant Acute Respiratory Distress Syndrome
Tachycardia, Cyanosis, Pneumonia, Cardiac arrest, Respiratory tract infection, Atelectasis, Nasal... ORPHA:70587
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Upper airway obstruction, Aspiration pneumonia ORPHA:141152
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia, Impulsivity, Hypsarrhythmia, Attention deficit hyperactivity disorder OMIM:617113
Pleural Mesothelioma
Respiratory distress, Abnormal pleura morphology, Dyspnea, Abnormal lung morphology, Abnormal car... ORPHA:50251
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Pseudobulbar paralysis, Delirium, Aggressive behavior ORPHA:208441
Immunodeficiency 95
Respiratory distress, Recurrent respiratory infections, Respiratory failure, Recurrent viral pneu... OMIM:619773
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Tricuspid regurgitation, Cyanosis, Congestive heart failure, Chronic pulmon... ORPHA:2414
High Altitude Pulmonary Edema
Orthopnea, Tachycardia, Cyanosis, Crackles, Dyspnea, Tachypnea, Hypoxemia, Cough, Pulmonary edema ORPHA:330012
Cryptogenic Organizing Pneumonia
Respiratory distress, Bronchial breath sound, Cyanosis, Crackles, Nonproductive cough, Dyspnea, W... ORPHA:1302
Recurrent Respiratory Papillomatosis
Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction... ORPHA:60032
Acute Interstitial Pneumonia
Cyanosis, Peribronchovascular interstitial thickening, Crackles, Nodular pattern on pulmonary HRC... ORPHA:79126
Landau-Kleffner Syndrome
Interictal EEG abnormality, Short attention span, Hyperactivity, EEG with frontal focal spikes, I... ORPHA:98818
Perching Syndrome
Respiratory distress, Cyanosis OMIM:617055
Stuve-Wiedemann Syndrome 2
Respiratory distress, Congestive heart failure, Death in adolescence, Stillbirth, Neonatal death,... OMIM:619751
Lennox-Gastaut Syndrome
Hyperactivity, Aggressive behavior, EEG abnormality, Falls, EEG with focal sharp slow waves, Ment... ORPHA:2382
Laryngotracheal Angioma
Respiratory distress, Cyanosis, Intercostal retractions, Apnea, Wheezing, Stridor, Cough ORPHA:137935
Pulmonary Alveolar Proteinosis, Acquired
Recurrent respiratory infections, Cyanosis, Lung abscess, Pneumonia, Dyspnea, Intraalveolar phosp... OMIM:610910
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Continuous spike and waves during slow sleep, Impulsivity, Attention deficit hyper... OMIM:301008
Bardet-Biedl Syndrome 16
Respiratory distress, Recurrent respiratory infections, Cognitive impairment, Bronchiolitis OMIM:615993
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Respiratory failure requiring assisted ventilation, Tachycardia, Crazy pavi... ORPHA:264675
Thrombophilia Due To Protein C Deficiency, Autosomal Dominant
Warfarin-induced skin necrosis, Pulmonary embolism OMIM:176860
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Low-output congestive heart failure, Hypertrophic cardiomyopathy, Cyanosis ORPHA:91130
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... OMIM:619466
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Pneumonia, Reduced forced expiratory volume in one second, Reduced forced vital capacity, Dyspnea... ORPHA:1303
Pulmonary Capillary Hemangiomatosis
Cyanosis, Pulmonary edema, Right ventricular failure, Diffuse alveolar hemorrhage, Dyspnea, Hemot... ORPHA:199241
Hyperlysinemia, Type I
Short attention span, Hyperactivity, Cognitive impairment OMIM:238700
Pulmonary Arteriovenous Malformation
Abnormal bleeding, Cyanosis, Transient ischemic attack, Epistaxis, Myocardial infarction, Dyspnea... ORPHA:2038
Phosphoserine Aminotransferase Deficiency
Cyanotic episode, Death in infancy, Apnea OMIM:610992
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Interstitial Lung Disease 2
Dyspnea, Alveolar cell carcinoma, Elevated bronchoalveolar lavage fluid neutrophil proportion, Pu... OMIM:178500
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Neonatal respiratory distress, Dyspnea, Atelectasis, Tachypnea, Pulmonary e... OMIM:267450
Seizures, Benign Familial Infantile, 3
Cyanosis, Apnea OMIM:607745
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Severe Acute Respiratory Syndrome
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu... ORPHA:140896
Stxbp1-Related Encephalopathy
Hyperactivity, Ataxia, EEG with abnormally slow frequencies, Inability to walk, Multifocal epilep... ORPHA:599373
Gaucher Disease Type 2
Respiratory distress, Recurrent respiratory infections, Cardiac arrest, Cough, Abnormal pattern o... ORPHA:77260
Hyperprolinemia, Type I
Hyperactivity, Ataxia, Aggressive behavior, EEG abnormality, Abnormal repetitive mannerisms OMIM:239500
Meconium Aspiration Syndrome
Respiratory distress, Neonatal asphyxia, Wheezing, Pneumothorax, Atelectasis, Hypoxemia, Abnormal... ORPHA:70588
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Shock, Pneumonia, Confusion, Nonproductive cough, Dyspnea, Tachypnea, Pneum... ORPHA:36238
Laryngotracheoesophageal Cleft
Recurrent respiratory infections, Neonatal respiratory distress, Cyanosis, Dyspnea, Stridor, Coug... ORPHA:2004
Seizures, Benign Familial Infantile, 1
Cyanosis, Apnea OMIM:601764
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood OMIM:302000
Cardiomyopathy, Dilated, 1Gg
Respiratory distress, Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ... OMIM:613642
Acquired Methemoglobinemia
Respiratory distress, Tachycardia, Cyanosis, Confusion, Dyspnea, Hypoxemia, Syncope, Palpitations... ORPHA:464453
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Short attention span, Hyperactivity, Broad-based gait, Ataxia, Obesity, EEG abnormality, Inapprop... ORPHA:411515
Hartnup Disorder
Episodic ataxia, Hyperactivity, Attention deficit hyperactivity disorder OMIM:234500
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Pulmonary venous occlusion, Dyspnea, Pulmonary capillary hemangiomatosis, Cough, Decreased DLCO, ... OMIM:234810
Primary Pulmonary Hypoplasia
Recurrent respiratory infections, Neonatal respiratory distress, Cyanosis, Apnea, Asthma, Tachypn... ORPHA:2257
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Acute Lung Injury
Respiratory distress, Shock, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea, Tachypnea, Abnormal... ORPHA:178320
Slc35A1-Cdg
Abnormal bleeding, Prolonged bleeding time, Respiratory distress, Pneumonia, Hypoxemia, Subcutane... ORPHA:238459
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Death in infancy OMIM:616341
Cln5 Disease
Hyperactivity, Ataxia, Aggressive behavior, Inability to walk, Unsteady gait, Multifocal epilepti... ORPHA:228360
Chronic Pneumonitis Of Infancy
Respiratory distress, Cyanosis, Intercostal retractions, Reduced forced vital capacity, Tachypnea... ORPHA:91359
Classic Glucose Transporter Type 1 Deficiency Syndrome
Central apnea, Cyanosis, Confusion ORPHA:71277
Juvenile Huntington Disease
Broad-based gait, Hyperactivity, Ataxia, Chorea, Gait ataxia, Weight loss, Progressive cerebellar... ORPHA:248111
Congenital Heart Block
Cyanosis, First degree atrioventricular block, Crackles, Gallop rhythm, Congestive heart failure,... ORPHA:60041
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... OMIM:309548
Atrial Septal Defect, Ostium Secundum Type
Bundle branch block, First degree atrioventricular block, Abnormal left ventricular function, Sup... ORPHA:99103
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Atrial Septal Defect, Ostium Primum Type
First degree atrioventricular block, Tachypnea, Atrioventricular block, Fixed splitting of the se... ORPHA:99106
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Respiratory tract infection, Nonproductive cough, Dyspnea, Chronic pulmonary obstruction, Wheezin... ORPHA:79127
Hereditary Thrombophilia Due To Congenital Antithrombin Deficiency
Miscarriage, Pulmonary embolism ORPHA:82
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp... ORPHA:254875
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... ORPHA:100973
Cntnap2-Related Developmental And Epileptic Encephalopathy
Hyperactivity, Ataxia, EEG with generalized polyspikes, Aggressive behavior, Abnormal neuron morp... ORPHA:163681
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Crackles, ... OMIM:610978
Neuralgic Amyotrophy
Acrocyanosis, Respiratory insufficiency ORPHA:2901
Heparin-Induced Thrombocytopenia
Abnormal onset of bleeding, Cerebral ischemia, Myocardial infarction, Pulmonary embolism ORPHA:3325
Idiopathic Bronchiectasis
Myocardial infarction, Crackles, Productive cough, Dyspnea, Wheezing, Respiratory tract infection... ORPHA:60033
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Dyspnea, Tachypnea, Abnormal pulmonary interstitial morphology, Restrictive ventilatory defect, H... OMIM:616414
Complete Atrioventricular Septal Defect
Abnormal EKG, Tachycardia, Left-to-right shunt, Intercostal retractions, Cyanosis, Crackles, Righ... ORPHA:1329
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Atrial Septal Defect, Coronary Sinus Type
Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic component of the second heart ... ORPHA:99104
Benign Familial Infantile Epilepsy
Psychomotor deterioration, Cyanosis, Apnea ORPHA:306
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B
Neonatal death, Apnea, Pulmonary hypoplasia OMIM:615228
Antithrombin Iii Deficiency
Arterial occlusion, Pulmonary embolism OMIM:613118
Familial Nasal Acilia
Respiratory distress, Dyspnea, Atelectasis, Recurrent upper respiratory tract infections, Bronchi... ORPHA:922
Chromosome 3Q29 Deletion Syndrome
Hyperactivity, Small for gestational age, Aggressive behavior, Gait ataxia, Failure to thrive, Ab... OMIM:609425
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Interstitial Lung Disease 1
Nonspecific interstitial pneumonia, Crackles, Intralobular septal thickening, Dyspnea, Elevated b... OMIM:619611
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Crackles, Dyspnea, Chronic pulmonary obstruction, Pneumothorax, Bronchiecta... ORPHA:411703
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nail-biting, Hyperactivity, Aggressive behavior, EEG with generalized epileptiform discharges, Se... OMIM:619827
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Abnormal EKG, Abnormal atrioventricular conduction, Tachypnea, Abnormal lef... ORPHA:45452
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap... OMIM:254210
Combined Oxidative Phosphorylation Defect Type 23
Wolff-Parkinson-White syndrome, Cyanosis, Congestive heart failure, Severely reduced left ventric... ORPHA:444013
Autoimmune Pulmonary Alveolar Proteinosis
Cyanosis, Crazy paving pattern, Crackles, Dyspnea, Intraalveolar phospholipid accumulation, Hypox... ORPHA:747
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Respiratory insufficiency ORPHA:238329
Choanal Atresia
Respiratory distress, Recurrent respiratory infections, Cyanosis, Upper airway obstruction, Trach... ORPHA:137914
Encephalopathy, Progressive, With Or Without Lipodystrophy
Mental deterioration, Hyperactivity, Ataxia OMIM:615924
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Irritabili... ORPHA:3077
Congenital Tracheomalacia
Apnea, Decreased peak expiratory flow, Cough, Emphysema, Neonatal respiratory distress, Intercost... ORPHA:95430
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap... OMIM:605809
Thrombophilia Due To Thrombomodulin Defect
Pulmonary embolism OMIM:614486
Pulmonary Alveolar Microlithiasis
Cyanosis, Bronchitis, Right ventricular failure, Increased pulmonary vascular resistance, Nonprod... ORPHA:60025
Pulmonary Hypoplasia, Primary
Neonatal death, Pulmonary hypoplasia OMIM:265430
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Dyspnea, Respiratory failure ORPHA:1832
Thrombophilia, X-Linked, Due To Factor Viii Defect
Pulmonary embolism OMIM:301071
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Respiratory distress, Abnormal capillary physiology, Erythema, Angioedema, Upper airway obstructi... ORPHA:100057
Malaria
Respiratory distress, Cognitive impairment ORPHA:673
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Aggressive behavior, Unsteady gait, Diminished ability to concentrate, Recurrent h... OMIM:615516
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Dilated cardiomyopathy, Respiratory insufficiency due to muscle weakness OMIM:300580
Afibrinogenemia, Congenital
Abnormal bleeding, Death in infancy, Epidural hemorrhage, Epistaxis, Hematemesis, Prolonged bleed... OMIM:202400
Rasmussen Subacute Encephalitis
Hyperactivity, Inability to walk, Increased theta frequency activity in EEG, EEG with focal epile... ORPHA:1929
Avian Influenza
Respiratory distress, Miscarriage, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tac... ORPHA:454836
Congenital Diaphragmatic Hernia
Respiratory distress, Pulmonary hypoplasia, Hypoxemia ORPHA:2140
Thrombophilia Due To Protein S Deficiency, Autosomal Dominant
Purpura, Warfarin-induced skin necrosis, Pulmonary embolism OMIM:612336
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress, Memory impairment, Mental deterioration ORPHA:240085
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Restrictive ventilatory defect, Respiratory failure, Respiratory insufficiency OMIM:614399
N-Acetylglutamate Synthase Deficiency
Respiratory distress, Confusion, Cognitive impairment OMIM:237310
Larsen-Like Syndrome, Lethal Type
Respiratory insufficiency, Neonatal death, Pulmonary hypoplasia, Tracheomalacia, Pulmonary insuff... OMIM:245650
Myopathy And Diabetes Mellitus
Respiratory distress, Dementia, Delirium ORPHA:2596
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Hyperactivity, Impulsivity, Impaired pain sensation, Aggressive behavior, Inability to walk, Chor... ORPHA:500180
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
Late Infantile Neuronal Ceroid Lipofuscinosis
Hyperactivity, Ataxia, Aggressive behavior, Inability to walk, EEG with photoparoxysmal response,... ORPHA:168491
Postsynaptic Congenital Myasthenic Syndromes
Orthopnea, Reduced vital capacity, Cyanosis, Restrictive ventilatory defect, Respiratory failure,... ORPHA:98913
Nipah Virus Disease
Respiratory distress, Recurrent pharyngitis, Hypotension, Cough ORPHA:99825
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Inability to walk, EEG abnormality, Self-injurious behavior, Bruxism, Abnormal rep... OMIM:618718
Congenitally Uncorrected Transposition Of The Great Arteries
Tachycardia, Cyanosis, Cardiac shunt, Congestive heart failure, Left ventricular outflow tract ob... ORPHA:860
X-Linked Centronuclear Myopathy
Respiratory distress, Respiratory failure requiring assisted ventilation, Recurrent respiratory i... ORPHA:596
Isolated Right Ventricular Hypoplasia
Tricuspid regurgitation, Cyanosis, Abnormal atrioventricular conduction, Right ventricular failur... ORPHA:439
Intellectual Developmental Disorder, Autosomal Dominant 67
Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder OMIM:619927
Progressive Supranuclear Palsy
Impulsivity, Unsteady gait, Abnormal synaptic transmission, Dementia, Falls, Cognitive impairment... ORPHA:683
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Lymphocytic interstitial pneumonia OMIM:245590
Tricuspid Atresia
Pulmonary artery atresia, Cyanosis ORPHA:1209
Sarcoidosis, Susceptibility To, 2
Dyspnea, Pneumothorax, Bronchiectasis, Abnormal pulmonary interstitial morphology, Hypoxemia, Res... OMIM:612387
Succinic Acidemia
Respiratory distress OMIM:600335
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Hypertension, Pulmonary hypoplasia OMIM:616733
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Ataxia, Aggressive behavior, Chorea, Athetosis, Self-injurious behavior ORPHA:382
Thrombophilia Due To Thrombin Defect
Pulmonary embolism OMIM:188050
Congenital Alpha2-Antiplasmin Deficiency
Abnormal bleeding, Intracranial hemorrhage, Abnormal umbilical stump bleeding, Gingival bleeding,... ORPHA:79
Anaplastic Thyroid Carcinoma
Respiratory distress, Dyspnea, Upper airway obstruction, Stridor, Neoplasm of the lung, Cough ORPHA:142
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Bilateral lung agenesis, Respiratory insufficiency OMIM:601612
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Pulmonary arteriovenou... OMIM:187300
Long Qt Syndrome 13
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... OMIM:613485
Mercury Poisoning
Respiratory distress, Tachycardia, Confusion, Dyspnea, Hypertension, Respiratory failure, Interst... ORPHA:330021
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Cardiomyopathy ORPHA:26792
Tularemia
Respiratory distress, Tachycardia, Pneumonia, Confusion, Cough, Pleural effusion ORPHA:3392
Chronic Beryllium Disease
Lymphocytic interstitial pneumonia, Dyspnea, Hypersensitivity pneumonitis, Abnormality on pulmona... ORPHA:133
Hereditary Methemoglobinemia
Cyanosis, Exertional dyspnea ORPHA:621
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory distress, Abnormal anterior horn cell morphology, Respiratory insufficiency, Degenera... ORPHA:1145
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, First degree atrioventricular block, Supraventricular tachycardia, ... ORPHA:99105
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Respiratory distress, Paradoxical respiration, Recurrent acute respiratory tract infection OMIM:620011
Absence Of The Pulmonary Artery
Abnormal EKG, Atrial flutter, Tachycardia, Atrial fibrillation, Orthopnea, Cyanosis, Recurrent re... ORPHA:980
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... OMIM:178600
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Ataxia, Aggressive behavior, EEG abnormality, Progressive language deterioration, ... OMIM:610042
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress, Memory impairment, Mental deterioration ORPHA:240103
Tetrasomy 5P
Respiratory distress, Recurrent respiratory infections, Cyanosis, Congestive heart failure, Heart... ORPHA:3309
Obesity-Hypoventilation Syndrome
Hypoventilation, Cyanosis OMIM:257500
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Recurrent respiratory infections, Left-to-right shunt, Cyanosis, Congestive heart failure, Left v... ORPHA:99050
Buerger Disease
Acrocyanosis, Vasculitis ORPHA:36258
Laryngomalacia
Respiratory distress, Congenital laryngeal stridor OMIM:150280
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Short attention span, Broad-based gait, Hyperactivity, Ataxia, EEG with abnormally slow frequenci... ORPHA:98794
Diffuse Alveolar Hemorrhage
Respiratory failure requiring assisted ventilation, Dyspnea, Increased DLCO, Hypoxemia, Restricti... ORPHA:90060
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
Cardiomyopathy, Familial Hypertrophic, 4
Respiratory distress, Transient ischemic attack, Cardiac arrest, Sudden cardiac death, First degr... OMIM:115197
Combined Oxidative Phosphorylation Deficiency 30
Respiratory distress, Death in infancy OMIM:616974
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Respiratory distress OMIM:617977
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Recurrent respiratory infections, Sinusitis, Bronchiectasis, Immotile cilia... OMIM:606763
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Atelectasis, Neonatal death, Death in infancy OMIM:300219
Congenital Fibrinogen Deficiency
Abnormal bleeding, Tachycardia, Cyanosis, Internal hemorrhage, Prolonged prothrombin time, Gingiv... ORPHA:335
Chitayat Syndrome
Respiratory distress, Recurrent respiratory infections, Abnormal pulmonary interstitial morpholog... OMIM:617180
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive
Pulmonary embolism, Vitreous hemorrhage, Purpura OMIM:612304
Cardiac Valvular Dysplasia 2
Aortic regurgitation, Increased left ventricular end-diastolic volume, Tricuspid regurgitation, L... OMIM:620067
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Respiratory distress, Progressive neurologic deterioration OMIM:612075
Eosinophilic Granulomatosis With Polyangiitis
Sinusitis, Recurrent intrapulmonary hemorrhage, Transient ischemic attack, Myocardial infarction,... ORPHA:183
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress OMIM:300934
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, Cyanosis, Apnea, Prolonged QRS complex, Left axis deviation, Congestive hea... OMIM:261740
Congenital Disorder Of Glycosylation, Type Iu
Respiratory distress, Death in infancy, Neonatal respiratory distress OMIM:615042
Lymphoid Interstitial Pneumonia
Multiple pulmonary cysts, Crackles, Raynaud phenomenon, Dyspnea, Wheezing, Respiratory tract infe... ORPHA:79128
Laryngeal Abductor Paralysis
Stridor, Cyanosis OMIM:150260
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Respiratory distress, Hypertrophic cardiomyopathy, Respiratory insufficiency due to muscle weakness OMIM:613561
Ethylene Glycol Poisoning
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Cyanosis, Confusion, Congestive h... ORPHA:31826
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress, Respiratory failure requiring assisted ventilation, Ventilator dependence w... ORPHA:254864
Inhalational Anthrax
Respiratory distress, Confusion, Dyspnea, Hypotension, Internal hemorrhage ORPHA:247257
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Respiratory distress, Confusion, Cerebral ischemia, Cognitive impairment, Delirium ORPHA:927
Familial Isolated Restrictive Cardiomyopathy
Orthopnea, Recurrent respiratory infections, Tricuspid regurgitation, Atrial fibrillation, Suprav... ORPHA:75249
Benign Familial Neonatal Epilepsy
Circumoral cyanosis, Apnea ORPHA:1949
Breath-Holding Spells
Cyanosis OMIM:607578
Pneumocystosis
Respiratory failure requiring assisted ventilation, Multiple pulmonary cysts, Nonproductive cough... ORPHA:723
Factor V Excess With Spontaneous Thrombosis
Pulmonary embolism OMIM:134400
Aortic Arch Interruption
Respiratory distress, Aortic regurgitation, Shock, Tricuspid regurgitation, Cyanosis, Blood press... ORPHA:2299
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Death in infancy, Dilated cardiomyopathy, Tachypnea, Respiratory insufficie... OMIM:614299
Hypoadrenocorticism, Familial
Cyanosis, Apnea OMIM:240200
Mitochondrial Phosphate Carrier Deficiency
Hypertrophic cardiomyopathy, Cyanosis, Respiratory insufficiency OMIM:610773
Brown-Vialetto-Van Laere Syndrome 1
Respiratory distress, Respiratory failure requiring assisted ventilation, Recurrent respiratory i... OMIM:211530
Congenital Tricuspid Valve Dysplasia
Respiratory failure requiring assisted ventilation, Tricuspid regurgitation, Cyanosis, Tachypnea,... ORPHA:555874
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Respiratory distress, Portal hypertension, Congestive heart failure, Dilated cardiomyopathy, Resp... ORPHA:367
Alpha-2-Plasmin Inhibitor Deficiency
Bruising susceptibility, Joint hemorrhage, Persistent bleeding after trauma, Hemothorax OMIM:262850
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Dyspnea, Respiratory failure, Recurrent respiratory infections ORPHA:2759
Myoclonic-Astatic Epilepsy
EEG with polyspike wave complexes, Hyperactivity, EEG with focal spike waves, Ataxia, Unsteady ga... ORPHA:1942
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Hypopnea,... OMIM:618426
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Transient ischemic attac... OMIM:610655
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Respiratory distress, Cardiomyopathy, Dyspnea, Cough ORPHA:86812
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Cyanosis, Exertional dyspnea OMIM:250800
Double Outlet Right Ventricle
Tachycardia, Cyanosis, Tachypnea, Heart murmur, Pulmonic stenosis, Pulmonary artery atresia ORPHA:3426
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Pulmonary arteriovenou... OMIM:600376
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Inappropriate behavior, Cognitive impairment ORPHA:309246
Cardiogenic Shock
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... ORPHA:97292
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress OMIM:614741
Congenital Myasthenic Syndrome
Recurrent respiratory infections, Cyanosis, Sudden episodic apnea, Intermittent episodes of respi... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Recurrent respiratory infections, Cyanosis, Sudden episodic apnea, Intermittent episodes of respi... ORPHA:98914
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Obesity, Attention deficit hyperactivity disorder, Aggressive behavior OMIM:301013
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Porphyria Due To Ala Dehydratase Deficiency
Restlessness, Confusion, Abnormal fear-induced behavior, Depression, Agitation, Delirium ORPHA:100924
Auriculocondylar Syndrome 2A
Respiratory distress, Apnea OMIM:614669
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Slender build, Chorea, Attention deficit hyperactivity disorder, Recurrent hand fl... OMIM:617600
Cleft Larynx, Posterior
Aspiration, Cyanosis OMIM:215800
Sepsis In Premature Infants
Abnormal bleeding, Tachycardia, Cyanosis, Abnormal mucociliary clearance, Dyspnea, Nasal flaring,... ORPHA:90051
Restrictive Dermopathy 2
Respiratory distress, Cyanosis OMIM:619793
Infantile Neuroaxonal Dystrophy
Psychomotor deterioration, Short attention span, Hyperactivity, Ataxia, Impulsivity, Unsteady gai... ORPHA:35069
Cocaine Intoxication
Respiratory distress, Prolonged QRS complex, Myocardial infarction, Tachypnea, Cough, Delirium, H... ORPHA:90068
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory insufficien... ORPHA:308552
Carnitine Deficiency, Systemic Primary
Respiratory distress, Confusion, Congestive heart failure, Cardiomyopathy, Mitral regurgitation, ... OMIM:212140
X-Linked Adrenoleukodystrophy
Hyperactivity, Somatic sensory dysfunction, Aggressive behavior, Dementia, Disinhibition, Gait di... ORPHA:43
Scimitar Syndrome
Respiratory distress, Recurrent respiratory infections, Left-to-right shunt, Heart block, Congest... ORPHA:185
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Prolonged QT interval, Tachycardia, Episodic tachypnea, Pneumonia, Jaundice... ORPHA:26793
Lujo Hemorrhagic Fever
Respiratory distress, Shock, Confusion, Crackles, Excessive bleeding after a venipuncture, Nonpro... ORPHA:319213
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Intracranial hemorrhage, Cough, Ecchymosis, Internal hemorrhage, Confusion,... ORPHA:340
Odontochondrodysplasia 1
Respiratory distress, Recurrent respiratory infections, Pulmonary hypoplasia, Death in infancy OMIM:184260
Multiple Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Jaundice, Pulmonary hypoplasia, Neonatal death OMIM:231680
Hereditary Bullous Dystrophy, Macular Type
Acrocyanosis, Pneumonia, Heart murmur ORPHA:1867
Waardenburg Syndrome Type 3
Tracheomalacia, Atelectasis, Acrocyanosis ORPHA:896
Pulmonary Edema Of Mountaineers, Susceptibility To
Elevated pulmonary artery pressure, Pulmonary edema OMIM:178400
Kallmann Syndrome-Heart Disease Syndrome
Aortic regurgitation, Cyanosis, Congestive heart failure, Dilated cardiomyopathy, Heart murmur, M... ORPHA:2326
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Respiratory distress, Death in infancy, Cardiac arrest, Hypertrophic cardiomyopathy, Inspiratory ... OMIM:604377
Gaucher Disease, Perinatal Lethal
Respiratory distress, Apnea, Progressive neurologic deterioration, Pulmonary hypoplasia, Neonatal... OMIM:608013
Eisenmenger Syndrome
Respiratory distress, Ventricular tachycardia, Aortopulmonary window, Supraventricular tachycardi... ORPHA:97214
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Purpura, Cerebral hemorrhage, Pulmonary embolism OMIM:614514
Surfactant Metabolism Dysfunction, Pulmonary, 5
Dyspnea, Intraalveolar phospholipid accumulation, Respiratory insufficiency, Interlobular septal ... OMIM:614370
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Central apnea, Congestive heart failure, Respiratory failure, Neonatal deat... OMIM:616482
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress, Respiratory insufficiency due to muscle weakness ORPHA:1143
Carnitine-Acylcarnitine Translocase Deficiency
Cyanosis, Sudden episodic apnea, Ventricular tachycardia, Respiratory insufficiency, Cardiomyopat... ORPHA:159
Congenital Laryngeal Web
Respiratory distress, Stridor ORPHA:2374
Lethal Recessive Chondrodysplasia
Respiratory distress ORPHA:1423
Folinic Acid-Responsive Seizures
Respiratory distress, Apnea ORPHA:79097
Idiopathic Hypereosinophilic Syndrome
Respiratory distress, Transient ischemic attack, Cutis marmorata, Supraventricular arrhythmia, Pu... ORPHA:3260
Acquired Purpura Fulminans
Shock, Intracranial hemorrhage, Prolonged prothrombin time, Macular purpura, Acrocyanosis, Intern... ORPHA:49566
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Respiratory distress, Death in infancy, Cerebral hemorrhage, Subdural hemorrhage, Respiratory fai... OMIM:620278
Congenital Tracheal Stenosis
Respiratory distress, Cyanosis, Neonatal asphyxia, Wheezing, Dyspnea, Abnormal lung morphology, U... ORPHA:141127
Bacterial Toxic-Shock Syndrome
Respiratory distress, Shock, Tachycardia, Sinusitis, Pneumonia, Confusion, Respiratory tract infe... ORPHA:36234
Criss-Cross Heart
Cyanosis, Tricuspid stenosis, Respiratory insufficiency, Pulmonic stenosis, Mitral stenosis, Supr... ORPHA:1461
Congenital Disorder Of Glycosylation, Type Ie
Respiratory distress, Telangiectasia OMIM:608799
Congenital Disorder Of Glycosylation, Type Ix
Respiratory distress, Death in childhood OMIM:615597
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Respiratory distress, Recurrent respiratory infections, Hypertrophic cardiomyopathy, Attention de... OMIM:619383
Thyroid Lymphoma
Respiratory distress, Dyspnea, Stridor, Upper airway obstruction ORPHA:97285
Hughes-Stovin Syndrome
Pulmonary embolism, Dyspnea, Vasculitis, Cardiorespiratory arrest, Cough, Pulmonary artery aneury... ORPHA:228116
Brain-Lung-Thyroid Syndrome
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Short atte... ORPHA:209905
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Cyanosis, Junct... ORPHA:137675
Neurodevelopmental Disorder With Or Without Autism Or Seizures
EEG with burst suppression, Hyperactivity, Failure to thrive, Hypsarrhythmia OMIM:619239
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Pulmonary embolism, Congestive heart failure, Hypertension, Hypertrophic cardiomyopathy, Arrhythmia ORPHA:1345
Dravet Syndrome
Short attention span, Cyanotic episode, Cognitive impairment ORPHA:33069
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph... ORPHA:217563
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory distress, Respiratory failure, Mental deterioration OMIM:620166
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Respiratory failure, Pulmonary hypoplasia OMIM:617895
Diaphanospondylodysostosis
Respiratory distress ORPHA:66637
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Short attention span, Cyanosis, Apnea, Attention deficit hyperactivity disorder OMIM:619580
Craniofaciofrontodigital Syndrome
Respiratory distress, Gastrointestinal hemorrhage, Persistent fetal circulation, Prominent superf... ORPHA:363705
Thrombotic Thrombocytopenic Purpura, Hereditary
Respiratory distress, Transient ischemic attack, Confusion, Myocardial infarction, Jaundice, Prol... OMIM:274150
Synaptic Congenital Myasthenic Syndromes
Respiratory distress, Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency, ... ORPHA:98915
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Purpura, Warfarin-induced skin necrosis, Pulmonary embolism ORPHA:745
Meckel Syndrome 14
Cyanosis, Tricuspid regurgitation, Pneumothorax, Cardiorespiratory arrest, Mitral regurgitation, ... OMIM:619879
Odontochondrodysplasia
Respiratory distress, Death in infancy ORPHA:166272
Goodpasture Syndrome
Cyanosis, Crackles, Nodular pattern on pulmonary HRCT, Increased DLCO, Tachypnea, Restrictive ven... OMIM:233450
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Prolonged bleeding time, Pulmonary embolism, Congestive heart failur... ORPHA:90308
Agnathia-Otocephaly Complex
Respiratory distress, Pulmonary hypoplasia, Tracheomalacia OMIM:202650
Fixed Subaortic Stenosis
Aortic regurgitation, Orthopnea, Paroxysmal atrial fibrillation, Angina pectoris, Dyspnea, Conges... ORPHA:3092
Triosephosphate Isomerase Deficiency
Respiratory distress, Death in infancy, Respiratory insufficiency due to muscle weakness, Congest... OMIM:615512
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Orthopnea, Transient ischemic attack, Respiratory insufficiency due to musc... ORPHA:365
Encephalopathy, Ethylmalonic
Death in infancy, Acrocyanosis, Petechiae OMIM:602473
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Cyanosis ORPHA:391428
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Aspiration pneumonia ORPHA:314655
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Cyanosis, Apnea OMIM:261680
Esophageal Atresia
Respiratory distress, Recurrent respiratory infections, Cyanosis, Bronchitis, Episodic respirator... ORPHA:1199
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Respiratory distress, Bradycardia, Prolonged neonatal jaundice ORPHA:226313
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Respiratory distress, Stillbirth, Pulmonary hypoplasia OMIM:151210
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Cardiomyopathy ORPHA:79312
Chiari Malformation Type Ii
Cyanosis, Inspiratory stridor OMIM:207950
Catastrophic Antiphospholipid Syndrome
Angina pectoris, Transient ischemic attack, Myocardial infarction, Pulmonary embolism, Arterial o... ORPHA:464343
Isolated Atp Synthase Deficiency
Respiratory distress, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Arrhythmia ORPHA:254913
Insulin-Like Growth Factor I Deficiency
Short attention span, Hyperactivity, Decreased body weight OMIM:608747
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Respiratory distress ORPHA:261304
X-Linked Cerebral Adrenoleukodystrophy
Short attention span, Hyperactivity, Ataxia, Confusion, Inability to walk, Dysmetria, Gait distur... ORPHA:139396
Dermatomyositis
Recurrent respiratory infections, Pericarditis, Telangiectasia of the skin, Myocardial infarction... ORPHA:221
Hyperimmunoglobulinemia D With Periodic Fever
Gastrointestinal hemorrhage, Vasculitis, Erythema, Urticaria, Acrocyanosis, Purpura ORPHA:343
Arterial Tortuosity Syndrome
Respiratory distress, Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Prematur... ORPHA:3342
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Acrocyanosis, Bradycardia, Atrioventricular block OMIM:614407
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Cyanotic episode ORPHA:284417
Myotonic Dystrophy 1
Respiratory distress, Atrial flutter, Atrial fibrillation, First degree atrioventricular block OMIM:160900
Tetanus
Respiratory distress, Tachycardia, Tachypnea, Hypertension, Bradycardia ORPHA:3299
Neurodegeneration With Brain Iron Accumulation 2B
Short attention span, Hyperactivity, Impulsivity, Chorea, Dysmetria, Gait ataxia, Dysdiadochokine... OMIM:610217
Double Outlet Left Ventricle
Cyanosis, Pulmonary artery stenosis, Tachypnea, Abnormal right ventricular function, Systolic hea... ORPHA:3427
Congenital Total Pulmonary Venous Return Anomaly
Respiratory distress, Respiratory failure requiring assisted ventilation, Tachycardia, Tricuspid ... ORPHA:99125
Mitochondrial Complex I Deficiency, Nuclear Type 37
Respiratory distress, Pulmonary arterial hypertension, Bradycardia OMIM:619272
Mucopolysaccharidosis-Plus Syndrome
Respiratory distress, Recurrent respiratory infections, Congestive heart failure, Recurrent bronc... OMIM:617303
Congenital Enterovirus Infection
Respiratory distress, Abnormal bleeding, Myocarditis, Cardiomyopathy, Hypotension, Pleural effusion ORPHA:292
Lissencephaly Syndrome, Norman-Roberts Type
Respiratory distress ORPHA:89844
Hypoglossia With Situs Inversus
Respiratory distress, Upper airway obstruction OMIM:612776
Cirrhotic Cardiomyopathy
Abnormal bleeding, Prolonged QT interval, Elevated jugular venous pressure, Left ventricular dias... ORPHA:57777
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Respiratory distress ORPHA:289916
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Tachycardia, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Ap... ORPHA:348
Neurodegeneration And Seizures Due To Copper Transport Defect
Respiratory distress, Pneumothorax, Tricuspid regurgitation, Pulmonary hypoplasia OMIM:620306
X-Linked Creatine Transporter Deficiency
Hyperactivity, Ataxia, Cachexia, Chorea, Athetosis, Self-mutilation ORPHA:52503
Spastic Paraplegia Type 2
Recurrent respiratory infections, Pulmonary embolism ORPHA:99015
Q Fever
Respiratory distress, Pericarditis, Pneumonia, Myocarditis, Vasculitis, Abnormal pulmonary inters... ORPHA:781
Cryptococcosis
Respiratory distress, Pneumonia, Nodular pattern on pulmonary HRCT, Dyspnea, Cough, Mental deteri... ORPHA:1546
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis ORPHA:2400
Structural Heart Defects And Renal Anomalies Syndrome
Partial anomalous pulmonary venous return, Cyanosis, Systolic heart murmur, Death in infancy OMIM:617478
Infantile Krabbe Disease
Respiratory distress, Psychomotor deterioration, Progressive neurologic deterioration, Abnormal h... ORPHA:206436
Toxic Epidermal Necrolysis
Respiratory distress, Gastrointestinal hemorrhage, Recurrent respiratory infections, Sudden cardi... ORPHA:537
Spinal muscular atrophy, type I, with congenital bone fractures
Respiratory distress, Degeneration of anterior horn cells OMIM:271225
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Respiratory insufficiency due to muscle weakness, Respiratory failure, Deat... OMIM:220110
Diaphanospondylodysostosis
Respiratory distress, Tracheomalacia, Pulmonary hypoplasia, Respiratory insufficiency OMIM:608022
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Respiratory distress, Recurrent respiratory infections ORPHA:329178
Truncus Arteriosus
Aortic regurgitation, Tachycardia, Cyanosis, Anomalous origin of one pulmonary artery from ascend... ORPHA:3384
Stt3B-Cdg
Respiratory distress ORPHA:370924
Primary Dystonia, Dyt4 Type
Respiratory distress, Dementia ORPHA:98805
Japanese Encephalitis
Respiratory distress, Pulmonary edema, Paucity of anterior horn motor neurons, Respiratory paraly... ORPHA:79139
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Purpura, Subcutaneous hemorrhage, Pulmonary embolism ORPHA:743
Chromosome 6Q24-Q25 Deletion Syndrome
Respiratory distress, Short attention span, Persistent fetal circulation, Tricuspid regurgitation... OMIM:612863
Aicardi-Goutieres Syndrome 1
Vasculitis, Erythema, Cardiomyopathy, Prolonged neonatal jaundice, Acrocyanosis, Petechiae, Purpura OMIM:225750
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Respiratory distress ORPHA:544503
Lymphatic Malformation 7
Respiratory distress, Pleural effusion, Chylothorax, Pulmonary edema OMIM:617300
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Respiratory distress, Pulmonary embolism, Jaundice, Dilated cardiomyopathy, Subdural hemorrhage, ... ORPHA:79282
Nasolacrimal Duct Cyst
Intercostal retractions, Episodic respiratory distress, Stridor, Paroxysmal dyspnea, Abnormal bre... ORPHA:141083
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Cyanosis, Pulmonic stenosis ORPHA:3304
Radio-Renal Syndrome
Respiratory distress, Dyspnea, Respiratory failure, Chylothorax, Pleural effusion ORPHA:3015
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Orthostatic hypotension, Tachycardia, Recurrent infections due to aspiration, Hypertension, Decre... OMIM:223900
Unilateral Polymicrogyria
Cyanosis, Apnea, Epistaxis, Pulmonary arteriovenous malformation ORPHA:268943
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Respiratory distress, Cardiomyopathy, Cerebellar hemorrhage OMIM:251000
3-Methylglutaconic Aciduria, Type Viib
Respiratory distress, Abnormal bleeding, Congestive heart failure, Recurrent pneumonia, Prolonged... OMIM:616271
Poems Syndrome
Respiratory insufficiency due to muscle weakness, Restrictive ventilatory defect, Pulmonary arter... ORPHA:2905
Ethylmalonic Encephalopathy
Acrocyanosis, Petechiae ORPHA:51188
Polycythemia Vera
Gastrointestinal hemorrhage, Angina pectoris, Epistaxis, Portal hypertension, Pulmonary embolism,... ORPHA:729
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Respiratory distress OMIM:617102
Holocarboxylase Synthetase Deficiency
Respiratory distress, Tachypnea ORPHA:79242
Pulmonary Hypertension, Primary, 3
Increased pulmonary vascular resistance, Dyspnea, Elevated pulmonary artery pressure, Pulmonary a... OMIM:615343
Episodic Ataxia Type 1
Respiratory distress ORPHA:37612
Hereditary Angioedema Type 1
Respiratory distress, Dyspnea, Urticaria, Dermatographic urticaria, Hypotension, Inspiratory stridor ORPHA:100050
Achondroplasia
Respiratory distress, Death in infancy, Pulmonary hypoplasia, Upper airway obstruction OMIM:100800
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Respiratory distress, Pulmonary fibrosis OMIM:612852
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Dyspnea, Respiratory failure ORPHA:2707
Moebius Syndrome
Respiratory distress OMIM:157900
Farber Disease
Respiratory distress, Nodular pattern on pulmonary HRCT, Atelectasis, Recurrent upper respiratory... ORPHA:333
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, First degree atrioventricular block, Heart block, Ventricular tac... ORPHA:216694
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Respiratory distress, Recurrent respiratory infections, Tachycardia, Tricuspid regurgitation, Con... ORPHA:505248
Congenital Disorder Of Glycosylation, Type Ig
Respiratory distress, Recurrent pneumonia, Recurrent upper respiratory tract infections OMIM:607143
Idiopathic Pulmonary Arterial Hypertension
Tricuspid regurgitation, Increased pulmonary vascular resistance, Congestive heart failure, Dyspn... ORPHA:275766
Alternating Hemiplegia Of Childhood
Respiratory distress, Apnea, Cardiac conduction abnormality, Progressive neurologic deterioration... ORPHA:2131
Mogs-Cdg
Respiratory distress, Hypoventilation, Apnea, Pulmonary edema ORPHA:79330
Myasthenic Syndrome, Congenital, 21, Presynaptic
Cyanosis, Apnea, Respiratory insufficiency OMIM:617239
Mitochondrial Complex I Deficiency, Nuclear Type 1
Death in infancy, Cyanosis, Apnea, Concentric hypertrophic cardiomyopathy, Respiratory insufficie... OMIM:252010
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Abnormal left ventricular function, Ecchymosis, Internal hemorrhage, Confusi... ORPHA:99827
Familial Dysautonomia
Recurrent respiratory infections, Orthostatic hypotension, Tachycardia, Abnormal pleura morpholog... ORPHA:1764
Hereditary Hemorrhagic Telangiectasia
Conjunctival telangiectasia, Gastrointestinal hemorrhage, Transient ischemic attack, Epistaxis, P... ORPHA:774
Myasthenia Gravis
Raynaud phenomenon, Dyspnea, Acrocyanosis ORPHA:589
Developmental And Epileptic Encephalopathy 68
Respiratory distress OMIM:618201
Nocardiosis
Respiratory distress, Pericarditis, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Pn... ORPHA:31204
Tarp Syndrome
Cyanosis, Apnea, Pulmonary hypoplasia ORPHA:2886
Rodrigues Blindness
Ectodermal dysplasia, Nasal flaring OMIM:268320
Pulmonary Hypertension, Primary, 4
Atrial flutter, Pulmonary arterial hypertension with lack of acute response to NO challenge, Firs... OMIM:615344
Heterotaxy, Visceral, 7, Autosomal
Pulmonary artery atresia, Pulmonary artery hypoplasia, Cyanosis, Total anomalous pulmonary venous... OMIM:616749
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress, Stridor OMIM:615595
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Respiratory distress, Pulmonary arterial hypertension ORPHA:2519
Osteogenesis Imperfecta, Type X
Respiratory distress, Recurrent pneumonia, Chronic lung disease, Death in childhood OMIM:613848
Oculopharyngodistal Myopathy 1
Respiratory distress, Paroxysmal atrial fibrillation, Hypercapnia, Reduced forced vital capacity,... OMIM:164310
Coccidioidomycosis
Respiratory distress, Pericarditis, Pneumonia, Vasculitis, Vasospasm, Cerebral ischemia, Pleural ... ORPHA:228123
Listeriosis
Respiratory distress, Pericarditis, Miscarriage, Pneumonia, Congestive heart failure, Myocarditis... ORPHA:533
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory distress, Repeated pneumothoraces, Atelectasis, Respiratory insufficiency, Restrictiv... ORPHA:536467
Methemoglobinemia And Ambiguous Genitalia
Cyanosis OMIM:250790
Colchicine Poisoning
Respiratory distress, Congestive heart failure, Myocarditis, Hypovolemia, Cardiorespiratory arres... ORPHA:31824
Leptospirosis
Respiratory distress, Pericarditis, First degree atrioventricular block, Jaundice, Retinal hemorr... ORPHA:509
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Respiratory distress, Short attention span ORPHA:438216
Tuberous Sclerosis Complex
Respiratory distress, Respiratory tract infection, Hypertension, Respiratory failure, Attention d... ORPHA:805
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Respiratory distress, Cardiomyopathy, Neonatal respiratory distress, Tracheomalacia OMIM:217980
Kniest Dysplasia
Respiratory distress, Tracheomalacia OMIM:156550
Chronic Thromboembolic Pulmonary Hypertension
Reduced vital capacity, Cardiac shunt, Pulmonary embolism, Right ventricular failure, Increased p... ORPHA:70591
Hutchinson-Gilford Progeria Syndrome
Aortic regurgitation, Prominent superficial blood vessels, Cyanosis, Mitral stenosis, Angina pect... ORPHA:740
Mgat2-Cdg
Respiratory distress, Abnormal bleeding, Reflex asystolic syncope, Arrhythmia, Recurrent upper an... ORPHA:79329
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Respiratory distress, Recurrent respiratory infections, Short attention span, Apnea, Hypertrophic... ORPHA:17
Postinfectious Vasculitis
Cerebral vasculitis, Palpable purpura, Cutis marmorata, Pneumonia, Raynaud phenomenon, Cardiomyop... ORPHA:48435
Heterotaxy, Visceral, 1, X-Linked
Respiratory distress, Bilateral trilobed lung, Cyanosis, Total anomalous pulmonary venous return,... OMIM:306955
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Respiratory distress OMIM:606164
Oromandibular Dystonia
Respiratory distress ORPHA:93958
Congenital Myopathy 22B, Severe Fetal
Respiratory distress, Pleural effusion, Pulmonary hypoplasia OMIM:620369
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Respiratory distress, Recurrent respiratory infections OMIM:300968
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cyanosis ORPHA:488627
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Erythema, ... OMIM:614748
Eosinophilic Fasciitis
Acrocyanosis ORPHA:3165
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Respiratory distress, Recurrent respiratory infections, Pneumonia, Urticaria, Interstitial pneumo... ORPHA:37042
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Respiratory distress, Congestive heart failure, Jaundice, Death in infancy OMIM:617156
Cardiac Valvular Dysplasia 1
Tricuspid regurgitation, Cyanosis, Tricuspid stenosis, Valvular pulmonary stenosis, Mitral regurg... OMIM:212093
Neurodegeneration With Brain Iron Accumulation 1
Hyperactivity, Ataxia, Akinesia, Phonic tics, Choreoathetosis, Dementia, Gait disturbance, Dyspha... OMIM:234200
Microlissencephaly-Micromelia Syndrome
Respiratory distress ORPHA:50810
Choreoacanthocytosis
Chorea, Compulsive behaviors, Loss of ambulation, Decreased amplitude of sensory action potential... ORPHA:2388
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Respiratory distress, Hypertension ORPHA:1555
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Pneumonia, Dyspnea, Dilated cardiomyopathy, Pneumothorax, Stridor, Respirat... ORPHA:79404
Hyperoxaluria, Primary, Type I
Cutis marmorata, Raynaud phenomenon, Arterial occlusion, Atrioventricular block, Intermittent cla... OMIM:259900
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hypoventilation, Cyanosis, Central hypoventilation, Asthma, Recurrent upper respiratory tract inf... ORPHA:293987
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Respiratory distress ORPHA:990
Prader-Willi Syndrome Due To Translocation
Respiratory distress, Recurrent respiratory infections, Attention deficit hyperactivity disorder ORPHA:177907
Beare-Stevenson Cutis Gyrata Syndrome
Respiratory distress, Hypertension, Palmoplantar cutis laxa OMIM:123790
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Pulmonary embolism, Respiratory tract infection, Dyspnea, Hypertension, Pleural effusion ORPHA:567546
Congenital Alveolar Capillary Dysplasia
Respiratory distress, Pulmonary arterial hypertension, Aortic valve stenosis ORPHA:210122
Mandibulofacial Dysostosis, Guion-Almeida Type
Respiratory distress OMIM:610536
Spondyloepiphyseal Dysplasia Congenita
Respiratory distress, Restrictive ventilatory defect OMIM:183900
Primary Hyperoxaluria
Cutis marmorata, Heart block, Raynaud phenomenon, Arterial occlusion, Cardiomyopathy, Intermitten... ORPHA:416
Adnp Syndrome
Respiratory distress, Aspiration, Recurrent upper respiratory tract infections, Attention deficit... ORPHA:404448
Meier-Gorlin Syndrome 1
Respiratory distress, Death in infancy, Emphysema OMIM:224690
Neuromuscular Oculoauditory Syndrome
Respiratory distress, Aspiration OMIM:618733
Biotinidase Deficiency
Respiratory distress, Apnea, Hyperventilation ORPHA:79241
Pfeiffer Syndrome Type 2
Respiratory distress, Tracheomalacia ORPHA:93259
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Left bundle branch blo... ORPHA:75565
Pachyonychia Congenita
Respiratory distress ORPHA:2309
Kasabach-Merritt Syndrome
Respiratory distress, Hypopnea, Prolonged prothrombin time, Petechiae, Purpura ORPHA:2330
Pfeiffer Syndrome Type 3
Respiratory distress, Tracheomalacia ORPHA:93260
Ehlers-Danlos Syndrome, Vascular Type
Pulmonary bulla, Recurrent intrapulmonary hemorrhage, Spontaneous pneumothorax, Repeated pneumoth... OMIM:130050
Auriculocondylar Syndrome
Respiratory distress ORPHA:137888
Methylmalonic Aciduria, Cblb Type
Respiratory distress OMIM:251110
Mitochondrial Dna-Associated Leigh Syndrome
Apnea, Cardiac conduction abnormality, Dyspnea, Dilated cardiomyopathy, Episodic respiratory dist... ORPHA:255210
Fucosidosis
Acrocyanosis, Vascular skin abnormality ORPHA:349
Hereditary Sensory And Autonomic Neuropathy Type 4
Nail-biting, Pain insensitivity, Somatic sensory dysfunction, Hyperactivity, Short attention span... ORPHA:642
Behçet Disease
Aortic regurgitation, Gastrointestinal hemorrhage, Pericarditis, Confusion, Myocardial infarction... ORPHA:117
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Respiratory distress, Jaundice, Prolonged neonatal jaundice OMIM:256810
Overhydrated Hereditary Stomatocytosis
Prolonged neonatal jaundice, Jaundice, Pulmonary embolism OMIM:185000
Campomelic Dysplasia
Respiratory distress, Neonatal respiratory distress, Apnea, Recurrent upper respiratory tract inf... OMIM:114290
Methylmalonic Aciduria, Cbla Type
Respiratory distress OMIM:251100
Shwachman-Diamond Syndrome 1
Respiratory distress, Neonatal respiratory distress OMIM:260400
Pitt-Hopkins Syndrome
Acrocyanosis, Abnormal pattern of respiration, Hyperventilation ORPHA:2896
Plague
Respiratory distress, Abnormal bleeding, Tachycardia, Hematemesis, Acute infectious pneumonia, Hy... ORPHA:707
Gitelman Syndrome
Respiratory distress, Prolonged QT interval, Raynaud phenomenon, Low-to-normal blood pressure, Sy... ORPHA:358
Microphthalmia With Linear Skin Defects Syndrome
Respiratory distress, Tricuspid regurgitation, Dyspnea, Dilated cardiomyopathy, Erythema, Mitral ... ORPHA:2556
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Respiratory distress, Rhinitis, Hypohidrotic ectodermal dysplasia, Periorbital wrinkles OMIM:305100
Hyperparathyroidism, Transient Neonatal
Respiratory distress OMIM:618188
Congenital Disorder Of Deglycosylation 1
Respiratory distress, Recurrent respiratory infections OMIM:615273
Diamond-Blackfan Anemia 10
Respiratory distress OMIM:613309
Arboleda-Tham Syndrome
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Pulmonic s... OMIM:616268
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Social ... ORPHA:353281
Generalized Arterial Calcification Of Infancy
Respiratory distress, Cyanosis, Transient ischemic attack, Retinal hemorrhage, Hypertension, Weak... ORPHA:51608
Ramos-Arroyo Syndrome
Respiratory distress ORPHA:1051
Familial Chylomicronemia Syndrome
Memory impairment, Jaundice, Dementia, Pulmonary embolism ORPHA:444490
Rubinstein-Taybi Syndrome 1
Respiratory distress, Short attention span, Recurrent upper respiratory tract infections, Respira... OMIM:180849
Ear-Patella-Short Stature Syndrome
Respiratory distress, Dyspnea, Respiratory failure ORPHA:2554
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia, Rhinitis, Co... ORPHA:95455
Classical Ehlers-Danlos Syndrome
Prolonged bleeding time, Orthostatic hypotension, Prematurely aged appearance, Poor wound healing... ORPHA:287
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Asthma, Nasal flaring, Attention deficit hyperactivity disorder ORPHA:466943
Schinzel-Giedion Syndrome
Respiratory distress, Recurrent pneumonia, Pulmonary hypoplasia ORPHA:798
Aicardi-Goutières Syndrome
Cutis marmorata, Raynaud phenomenon, Prolonged neonatal jaundice, Hypertrophic cardiomyopathy, Ac... ORPHA:51
8Q24.3 Microdeletion Syndrome
Gastrointestinal hemorrhage, Abnormal lung lobation, Respiratory distress ORPHA:508488
Osteoglophonic Dysplasia
Respiratory distress OMIM:166250
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Respiratory distress, Pulmonary hypoplasia ORPHA:83617
Cleidocranial Dysplasia 1
Respiratory distress, Neonatal respiratory distress OMIM:119600
Isolated Arrhinia
Respiratory distress ORPHA:1134
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Respiratory distress, Pulmonary artery stenosis, Pulmonic stenosis ORPHA:2255
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Social ... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Social ... ORPHA:353277
Ulbright-Hodes Syndrome
Respiratory distress, Respiratory failure, Pneumothorax, Pulmonary hypoplasia ORPHA:3404
Stüve-Wiedemann Syndrome
Respiratory distress, Asthma, Apnea ORPHA:3206
Doors Syndrome
Respiratory distress, Aspiration pneumonia ORPHA:79500
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Respiratory distress, Cardiomyopathy, Recurrent upper and lower respiratory tract infections ORPHA:480880
Multiple Osteochondromas
Pneumothorax, Hemothorax ORPHA:321
Coffin-Lowry Syndrome
Mitral regurgitation, Acrocyanosis, Cutis marmorata OMIM:303600
Hypermobile Ehlers-Danlos Syndrome
Arrhythmia, Acrocyanosis, Apnea ORPHA:285
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Respiratory distress OMIM:617088
Alström Syndrome
Respiratory distress, Dorsocervical fat pad, Portal hypertension, Chronic bronchitis, Congestive ... ORPHA:64
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Respiratory distress, Recurrent pneumonia ORPHA:99646
Pmm2-Cdg
Respiratory distress, Pericarditis, Angina pectoris, Abnormal subcutaneous fat tissue distributio... ORPHA:79318

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 Git1

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 Git1.

No publications found that use IMPC mice or data for Git1.

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
Git1tm1(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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