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Gene: Atp23 MGI:1916984

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

ATP23 metallopeptidase and ATP synthase assembly factor homolog

Synonyms:

1110068E08Rik, 2410012H02Rik, Xrcc6bp1

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 Atp23 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Atp23 (0 diseases)
Human diseases predicted to be associated with Atp23 (371 diseases)

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

The table below shows human diseases predicted to be associated to Atp23 by phenotypic similarity.

Disease	Matching phenotypes	Source
Mucus Inspissation Of Respiratory Tract	Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr...	OMIM:253240
Ciliary Dyskinesia, Primary, 29	Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili...	OMIM:615872
Ciliary Dyskinesia, Primary, 21	Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ...	OMIM:615294
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Atelectasis, Chronic sinusitis, Recurrent bronchitis	OMIM:300455
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas...	OMIM:619466
Ciliary Dyskinesia, Primary, 33	Atelectasis, Recurrent pneumonia, Bronchiectasis, Ciliary dyskinesia, Chronic rhinitis, Cough, Re...	OMIM:616726
Bronchopulmonary Dysplasia	Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Atelecta...	ORPHA:70589
Respiratory Distress Syndrome In Premature Infants	Respiratory distress, Neonatal respiratory distress, Atelectasis, Dyspnea, Tachypnea, Pulmonary e...	OMIM:267450
Familial Nasal Acilia	Respiratory distress, Atelectasis, Dyspnea, Recurrent upper respiratory tract infections, Bronchi...	ORPHA:922
Asbestos Intoxication	Reduced forced vital capacity, Nonproductive cough, Diffuse reticular or finely nodular infiltrat...	ORPHA:2302
Meconium Aspiration Syndrome	Respiratory distress, Abnormal pulmonary thoracic imaging finding, Atelectasis, Neonatal asphyxia...	ORPHA:70588
Emphysema, Hereditary Pulmonary	Emphysema, Chronic pulmonary obstruction, Chronic bronchitis	OMIM:130700
Pulmonary Hypoplasia, Primary	Neonatal death, Pulmonary hypoplasia	OMIM:265430
Recurrent Respiratory Papillomatosis	Respiratory distress, Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract in...	ORPHA:60032
Acute Interstitial Pneumonia	Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Crackles, Ground-...	ORPHA:79126
Renal Hypodysplasia/Aplasia 2	Redundant skin, Pulmonary hypoplasia	OMIM:615721
Tracheobronchopathia Osteochondroplastica	Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,...	ORPHA:3348
Idiopathic Chronic Eosinophilic Pneumonia	Abnormal pulmonary thoracic imaging finding, Crackles, Atelectasis, Hypersensitivity pneumonitis,...	ORPHA:2902
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Crackles, ...	OMIM:610978
Infant Acute Respiratory Distress Syndrome	Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemia, Respira...	ORPHA:70587
C1Q Deficiency 2	Atelectasis, Recurrent lower respiratory tract infections, Bronchiectasis, Facial erythema	OMIM:620321
Renal Hypodysplasia/Aplasia 4	Respiratory failure, Pulmonary hypoplasia	OMIM:619887
Bronchogenic Cyst	Abnormal pulmonary thoracic imaging finding, Pulmonary cyst, Pneumonia, Abnormal pleura morpholog...	ORPHA:2357
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B	Neonatal death, Apnea, Pulmonary hypoplasia	OMIM:615228
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Ground-glass opacification, Respiratory tract infection, Hypersensitivity pneumonitis, Nonproduct...	ORPHA:79127
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Bronchiolitis, Atelectasis, Pulmonary fibrosis, Exertional dyspnea	ORPHA:254361
Idiopathic Pulmonary Hemosiderosis	Crackles, Nodular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Dyspnea, Ground-glass o...	ORPHA:99931
Bare Lymphocyte Syndrome, Type I	Nasal polyposis, Bronchiectasis, Skin ulcer, Bronchiolitis, Emphysema, Chronic sinusitis, Recurre...	OMIM:604571
Mitochondrial Complex I Deficiency, Nuclear Type 35	Neonatal respiratory distress, Redundant neck skin, Pulmonary hypoplasia, Neonatal death, Pulmona...	OMIM:619003
Myotubular Myopathy With Abnormal Genital Development	Respiratory distress, Atelectasis, Neonatal death, Death in infancy	OMIM:300219
Idiopathic Bronchiectasis	Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Bronchiect...	ORPHA:60033
Congenital Lobar Emphysema	Respiratory distress, Emphysema	ORPHA:1928
Cutis Laxa, Neonatal, With Marfanoid Phenotype	Emphysema, Cutis laxa	OMIM:614100
Primary Ciliary Dyskinesia	Recurrent sinopulmonary infections, Neonatal respiratory distress, Nasal polyposis, Peribronchova...	ORPHA:244
Ciliary Dyskinesia, Primary, 1	Nasal polyposis, Pneumonia, Atelectasis, Absent outer dynein arms, Bronchiectasis, Immotile cilia...	OMIM:244400
Larsen-Like Syndrome, Lethal Type	Tracheomalacia, Neonatal death, Pulmonary hypoplasia, Respiratory insufficiency	OMIM:245650
Waardenburg Syndrome Type 3	Tracheomalacia, Atelectasis	ORPHA:896
Idiopathic Pulmonary Fibrosis	Crackles, Ground-glass opacification, Bronchiectasis, Abnormal pulmonary interstitial morphology,...	ORPHA:2032
Cutis Laxa-Marfanoid Syndrome	Emphysema, Redundant skin	ORPHA:171719
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Crackles, Ground-glass opacification, Atelectasis, Dyspnea, Asthma, Wheezing, Abnormal pulmonary ...	OMIM:620233
Interstitial Lung Disease 1	Nonspecific interstitial pneumonia, Crackles, Intralobular septal thickening, Cough, Dyspnea, Gro...	OMIM:619611
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ...	OMIM:610921
Epidermodysplasia Verruciformis, Susceptibility To, 4	Emphysema, Facial erythema	OMIM:618307
Alpha-1-Antitrypsin Deficiency	Chronic bronchitis, Dyspnea, Panacinar emphysema, Chronic pulmonary obstruction, Wheezing, Bronch...	OMIM:613490
Combined Oxidative Phosphorylation Deficiency 8	Neonatal death, Death in infancy, Pulmonary hypoplasia, Death in childhood	OMIM:614096
Lethal Congenital Contracture Syndrome 11	Intrauterine growth retardation, Pulmonary hypoplasia	OMIM:617194
Autosomal Dominant Hyper-Ige Syndrome	Recurrent respiratory infections, Atelectasis, Skin ulcer, Cough, Skin vesicle	ORPHA:2314
Allergic Bronchopulmonary Aspergillosis	Asthma, Bronchiectasis, Respiratory insufficiency, Cough, Pulmonary arterial hypertension, Emphysema	ORPHA:1164
Surfactant Metabolism Dysfunction, Pulmonary, 5	Ground-glass opacification, Dyspnea, Intraalveolar phospholipid accumulation, Respiratory insuffi...	OMIM:614370
Sarcoidosis, Susceptibility To, 2	Dyspnea, Pneumothorax, Bronchiectasis, Abnormal pulmonary interstitial morphology, Pulmonary infi...	OMIM:612387
Birt-Hogg-Dubé Syndrome	Emphysema, Pneumothorax, Pulmonary sequestration	ORPHA:122
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism	Pulmonary hypoplasia	OMIM:613124
Surfactant Metabolism Dysfunction, Pulmonary, 1	Death in infancy, Neonatal respiratory distress, Apnea, Ground-glass opacification, Dyspnea, Desq...	OMIM:265120
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Recurrent respiratory infections, Death in infancy, Intraalveolar phospholipid accumulation, Resp...	OMIM:618042
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Pallor	ORPHA:46532
Ciliary Dyskinesia, Primary, 20	Recurrent respiratory infections, Productive cough, Atelectasis, Pulmonary artery stenosis, Recur...	OMIM:615067
Dermatitis, Atopic	Allergic rhinitis, Asthma, Facial erythema, Pallor, Dry skin	OMIM:603165
Congenital Heart Block	Intrauterine growth retardation, Pleural effusion, Pallor, Crackles	ORPHA:60041
Methylmalonic Acidemia With Homocystinuria, Type Cbld	Pallor	ORPHA:79283
Rheumatic Fever	Sinusitis, Epistaxis, Abnormal pleura morphology, Recurrent pharyngitis, Erythema, Respiratory in...	ORPHA:3099
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Abnormal lung lobation, Pulmonary hypoplasia	ORPHA:2631
Peripheral Cone Dystrophy	Pallor	OMIM:609021
Alpha-1-Antitrypsin Deficiency	Emphysema	ORPHA:60
Cutis Laxa, Autosomal Recessive, Type Ic	Death in infancy, Redundant skin, Atelectasis, Recurrent pneumonia, Cutis laxa, Pulmonary hypopla...	OMIM:613177
Microphthalmia, Syndromic 12	Neonatal death, Pulmonary hypoplasia	OMIM:615524
Cone-Rod Dystrophy 11	Pallor	OMIM:610381
Surfactant Metabolism Dysfunction, Pulmonary, 4	Reduced forced expiratory volume in one second, Reduced forced vital capacity, Ground-glass opaci...	OMIM:300770
Nphp3-Related Meckel-Like Syndrome	Pulmonary hypoplasia	ORPHA:3032
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities	Pulmonary hypoplasia	OMIM:616531
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency	Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph...	ORPHA:217563
Lymphangioleiomyomatosis	Recurrent respiratory infections, Atelectasis, Dyspnea, Pneumothorax, Pulmonary infiltrates, Rest...	ORPHA:538
Renal Tubular Dysgenesis	Pulmonary hypoplasia	ORPHA:3033
Optic Atrophy 1	Pallor	OMIM:165500
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification	Emphysema	OMIM:210050
Acute Peripheral Arterial Occlusion	Pallor	ORPHA:90064
Congenital Diaphragmatic Hernia	Respiratory distress, Pulmonary hypoplasia, Hypoxemia	ORPHA:2140
Spondylospinal Thoracic Dysostosis	Pulmonary hypoplasia	OMIM:601809
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect...	OMIM:610913
Farber Disease	Respiratory distress, Nodular pattern on pulmonary HRCT, Atelectasis, Recurrent upper respiratory...	ORPHA:333
Deafness-Lymphedema-Leukemia Syndrome	Recurrent respiratory infections, Respiratory failure, Pallor	ORPHA:3226
Lethal Congenital Contracture Syndrome 1	Neonatal death, Pulmonary hypoplasia	OMIM:253310
Whim Syndrome	Sinusitis, Pneumonia, Respiratory tract infection, Atelectasis, Recurrent upper respiratory tract...	ORPHA:51636
Coenzyme Q10 Deficiency, Primary, 8	Respiratory distress, Intrauterine growth retardation, Pulmonary hypoplasia	OMIM:616733
Acute Myelomonocytic Leukemia	Dyspnea, Pallor	ORPHA:517
Benign Paroxysmal Torticollis Of Infancy	Pallor	ORPHA:71518
Primary Pulmonary Hypoplasia	Recurrent respiratory infections, Neonatal respiratory distress, Apnea, Asthma, Pneumothorax, Tac...	ORPHA:2257
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Pallor	ORPHA:2786
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Respiratory distress, Respiratory insufficiency due to muscle weakness, Pallor	OMIM:613561
X-Linked Sideroblastic Anemia	Dyspnea, Pallor	ORPHA:75563
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Recurrent respiratory infections, Atelectasis, Tachypnea, Respiratory insufficiency, Respiratory ...	OMIM:618278
Lujo Hemorrhagic Fever	Respiratory distress, Crackles, Atelectasis, Nonproductive cough, Rhinitis, Ecchymosis, Purpura	ORPHA:319213
Short-Rib Thoracic Dysplasia 12	Atelectasis, Respiratory insufficiency, Pulmonary hypoplasia, Neonatal death, Intrauterine growth...	OMIM:269860
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Hypoventilation, Atelectasis, Respiratory insufficiency, Pulmonary arterial hypertension, Respira...	ORPHA:258
Leber Congenital Amaurosis 14	Pallor	OMIM:613341
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Pulmonary hypoplasia	ORPHA:2141
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Pulmonary hypoplasia	OMIM:618174
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect	Stillbirth, Pulmonary hypoplasia	OMIM:617468
Goodpasture Syndrome	Nodular pattern on pulmonary HRCT, Crackles, Ground-glass opacification, Increased DLCO, Tachypne...	OMIM:233450
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Neonatal respiratory distress, Pulmonary hypoplasia, Respiratory failure	OMIM:616867
Chand Syndrome	Atelectasis, Dry skin	ORPHA:1401
Breath-Holding Spells	Pallor	OMIM:607578
Atelosteogenesis, Type Ii	Death in infancy, Stillbirth, Pulmonary hypoplasia, Respiratory insufficiency	OMIM:256050
Granulomatous Disease, Chronic, X-Linked	Atelectasis, Recurrent pneumonia, Air bronchogram, Cough, Pleural effusion	OMIM:306400
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Respiratory distress, Repeated pneumothoraces, Atelectasis, Respiratory insufficiency, Restrictiv...	ORPHA:536467
Fanconi Renotubular Syndrome 5	Decreased DLCO, Emphysema, Pulmonary fibrosis, Lung adenocarcinoma	OMIM:618913
Hemoglobin D Disease	Pallor	ORPHA:90039
Spontaneous Periodic Hypothermia	Pallor, Abnormal pattern of respiration	ORPHA:29822
Hereditary Folate Malabsorption	Recurrent respiratory infections, Pallor	ORPHA:90045
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Neonatal death, Redundant neck skin, Stillbirth, Pulmonary hypoplasia	OMIM:236500
Optic Atrophy 7 With Or Without Auditory Neuropathy	Pallor	OMIM:612989
Primary Lateral Sclerosis, Juvenile	Pallor	OMIM:606353
Familial Focal Epilepsy With Variable Foci	Pallor	ORPHA:98820
Relapsing Polychondritis	Dyspnea, Atelectasis, Erythema, Cough, Abnormal pattern of respiration, Purpura	ORPHA:728
Congenital Tracheomalacia	Apnea, Tracheobronchomalacia, Cough, Emphysema, Neonatal respiratory distress, Intercostal retrac...	ORPHA:95430
Hypophosphatasia	Emphysema, Respiratory insufficiency	ORPHA:436
Congenital Myopathy 1B, Autosomal Recessive	Recurrent respiratory infections, Pulmonary hypoplasia, Respiratory insufficiency	OMIM:255320
Zygomycosis	Sinusitis, Epistaxis, Atelectasis, Pneumothorax, Pulmonary infiltrates, Acute infectious pneumoni...	ORPHA:73263
Thanatophoric Dysplasia	Intrauterine growth retardation, Redundant skin, Pulmonary hypoplasia, Respiratory insufficiency	ORPHA:2655
Waldenström Macroglobulinemia	Epistaxis, Respiratory insufficiency, Pulmonary infiltrates, Pallor, Pleural effusion, Purpura	ORPHA:33226
Glycogen Storage Disease Due To Acid Maltase Deficiency	Respiratory distress, Orthopnea, Respiratory tract infection, Atelectasis, Respiratory insufficie...	ORPHA:365
Renal Tubular Dysgenesis	Pulmonary hypoplasia, Respiratory insufficiency	OMIM:267430
Evans Syndrome	Dyspnea, Pallor, Epistaxis, Petechiae	ORPHA:1959
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Pallor	ORPHA:276608
Achondrogenesis Type 2	Pulmonary hypoplasia, Cardiorespiratory arrest	ORPHA:93296
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Pulmonary hypoplasia	OMIM:601163
Pallister-Hall-Like Syndrome	Death in infancy, Pulmonary hypoplasia	OMIM:241800
Cyclic Vomiting Syndrome	Pallor	OMIM:500007
T-Cell Immunodeficiency With Thymic Aplasia	Recurrent bronchopulmonary infections, Emphysema, Recurrent pneumonia, Bronchiectasis	OMIM:242700
Beta-Thalassemia	Skin ulcer, Pallor, Respiratory insufficiency	ORPHA:848
Esophageal Atresia	Respiratory distress, Recurrent respiratory infections, Bronchitis, Episodic respiratory distress...	ORPHA:1199
Thiamine-Responsive Megaloblastic Anemia Syndrome	Pallor	ORPHA:49827
Cutis Laxa, Autosomal Recessive, Type Ia	Recurrent respiratory infections, Emphysema, Redundant skin, Cutis laxa	OMIM:219100
Hyperinsulinism Due To Ucp2 Deficiency	Pallor	ORPHA:276556
Leishmaniasis	Rhinitis, Pallor, Skin ulcer	ORPHA:507
Nephronophthisis 2	Respiratory failure, Pulmonary hypoplasia, Respiratory insufficiency	OMIM:602088
Retinitis Pigmentosa 51	Pallor	OMIM:613464
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Pallor	ORPHA:276575
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Emphysema, Pulmonary fibrosis	OMIM:620365
Dyssegmental Dysplasia, Silverman-Handmaker Type	Neonatal death, Pulmonary hypoplasia, Respiratory insufficiency	OMIM:224410
Maternal Uniparental Disomy Of Chromosome 2	Neonatal respiratory distress, Miscarriage, Respiratory infections in early life, Pulmonary hypop...	ORPHA:96179
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Pallor	ORPHA:276580
Hyperinsulinism Due To Hnf1A Deficiency	Pallor	ORPHA:324575
Fetal Akinesia Deformation Sequence	Intrauterine growth retardation, Pulmonary hypoplasia, Respiratory insufficiency	ORPHA:994
Lethal Congenital Contracture Syndrome Type 1	Pulmonary hypoplasia	ORPHA:1486
Letterer-Siwe Disease	Dyspnea, Pallor, Pulmonary infiltrates	OMIM:246400
Renal-Hepatic-Pancreatic Dysplasia 2	Stillbirth, Abnormal lung lobation, Pulmonary hypoplasia	OMIM:615415
Netherton Syndrome	Recurrent respiratory infections, Emphysema, Dry skin, Asthma	ORPHA:634
Kcnq2-Related Epileptic Encephalopathy	Apnea, Pallor, Facial erythema	ORPHA:439218
Odontochondrodysplasia 1	Respiratory distress, Recurrent respiratory infections, Pulmonary hypoplasia, Death in infancy	OMIM:184260
Matthew-Wood Syndrome	Intrauterine growth retardation, Abnormal lung morphology, Pulmonary hypoplasia	ORPHA:2470
Pericardial And Diaphragmatic Defect	Hypoxemia, Neonatal respiratory distress, Pulmonary hypoplasia, Pulmonary sequestration	ORPHA:2847
Myopathic Ehlers-Danlos Syndrome	Pallor	ORPHA:536516
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Pulmonary artery stenosis, Bilateral lung agenesis, Congenital pulmonary airway malformation, Pul...	OMIM:611812
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Intrauterine growth retardation, Pulmonary hypoplasia	ORPHA:3035
Dravet Syndrome	Pallor	ORPHA:33069
Anemia, Congenital Dyserythropoietic, Type Ib	Pallor	OMIM:615631
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Pallor, Death in childhood	OMIM:246450
Drug-Induced Autoimmune Hemolytic Anemia	Pallor, Exertional dyspnea	ORPHA:90037
Agnathia-Otocephaly Complex	Respiratory distress, Pulmonary hypoplasia, Tracheomalacia	OMIM:202650
Cutis Laxa, Autosomal Dominant 1	Redundant skin, Dyspnea, Bronchiectasis, Cutis laxa, Emphysema, Peripheral pulmonary artery stenosis	OMIM:123700
Serkal Syndrome	Pulmonary hypoplasia	ORPHA:139466
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Recurrent upper and lower respiratory tract infections, Pallor	ORPHA:331206
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Respiratory distress, Respiratory failure, Pulmonary hypoplasia	OMIM:617895
Oculocerebrorenal Syndrome Of Lowe	Recurrent respiratory infections, Death in infancy, Atelectasis, Skin ulcer, Respiratory insuffic...	ORPHA:534
Gillessen-Kaesbach-Nishimura Syndrome	Abnormal lung lobation, Pulmonary hypoplasia	OMIM:263210
22Q11.2 Deletion Syndrome	Atelectasis, Asthma, Chronic pulmonary obstruction, Abnormal lung lobation, Intrauterine growth r...	ORPHA:567
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Restrictive ventilatory defect, Pallor	OMIM:600462
Thanatophoric Dysplasia, Type I	Neonatal death, Neonatal respiratory distress, Pulmonary hypoplasia	OMIM:187600
Tonne-Kalscheuer Syndrome	Pulmonary hypoplasia	OMIM:300978
Primary Myelofibrosis	Ecchymosis, Pallor, Petechiae, Purpura	ORPHA:824
Multiple Pterygium Syndrome, X-Linked	Intrauterine growth retardation, Pulmonary hypoplasia	OMIM:312150
Mixed-Type Autoimmune Hemolytic Anemia	Pallor, Exertional dyspnea	ORPHA:90036
Non-Functioning Paraganglioma	Pallor	ORPHA:94080
American Trypanosomiasis	Dyspnea, Pallor, Cough	ORPHA:3386
Common Variable Immunodeficiency	Recurrent respiratory infections, Pneumonia, Bronchiectasis, Restrictive ventilatory defect, Emph...	ORPHA:1572
Meier-Gorlin Syndrome 4	Intrauterine growth retardation, Emphysema	OMIM:613804
Renal Hypodysplasia/Aplasia 1	Pulmonary hypoplasia	OMIM:191830
Idiopathic Hypereosinophilic Syndrome	Respiratory distress, Pulmonary embolism, Dyspnea, Asthma, Pulmonary infiltrates, Pulmonary fibro...	ORPHA:3260
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Pallor	OMIM:613839
Multiple Pterygium Syndrome, Lethal Type	Intrauterine growth retardation, Pulmonary hypoplasia	OMIM:253290
Fructose-1,6-Bisphosphatase Deficiency	Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Apneic episodes...	ORPHA:348
Hb Bart'S Hydrops Fetalis	Pallor	ORPHA:163596
Tay-Sachs Disease	Aspiration, Pallor	OMIM:272800
Infection-Related Hemolytic Uremic Syndrome	Pneumonia, Respiratory tract infection, Dyspnea, Pleural empyema, Pallor, Pleuritis	ORPHA:544482
Gaucher Disease, Perinatal Lethal	Respiratory distress, Apnea, Pulmonary hypoplasia, Neonatal death, Intrauterine growth retardatio...	OMIM:608013
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Pallor	OMIM:611590
Severe Congenital Nemaline Myopathy	Respiratory failure, Pulmonary hypoplasia	ORPHA:171430
Irida Syndrome	Pallor	ORPHA:209981
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Neonatal death, Pulmonary hypoplasia	OMIM:314390
Scimitar Syndrome	Respiratory distress, Recurrent respiratory infections, Abnormal lung morphology, Partial anomalo...	ORPHA:185
Fanconi Anemia, Complementation Group I	Intrauterine growth retardation, Pallor	OMIM:609053
Microphthalmia, Syndromic 9	Agenesis of pulmonary vessels, Alveolar capillary dysplasia, Respiratory insufficiency, Bilateral...	OMIM:601186
Alg3-Cdg	Pulmonary hypoplasia	ORPHA:79321
Myelofibrosis	Pallor, Purpura	OMIM:254450
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Intrauterine growth retardation, Pleural effusion, Pulmonary hypoplasia	OMIM:616897
Histiocytoid Cardiomyopathy	Cough, Tachypnea, Pallor, Pulmonary edema	ORPHA:137675
Multiple Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Pulmonary hypoplasia, Neonatal death	OMIM:231680
Acquired Idiopathic Sideroblastic Anemia	Pallor	ORPHA:75564
Tetrasomy 5P	Respiratory distress, Recurrent respiratory infections, Redundant neck skin, Pulmonary hypoplasia...	ORPHA:3309
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Intrauterine growth retardation, Pulmonary hypoplasia	ORPHA:86822
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Pulmonary artery atresia, Recurrent respiratory infections, Pulmonary hypoplasia	OMIM:618316
Sepsis In Premature Infants	Abnormal mucociliary clearance, Dyspnea, Nasal flaring, Abnormal respiratory system physiology, P...	ORPHA:90051
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Respiratory distress, Stillbirth, Pulmonary hypoplasia	OMIM:151210
Microcephaly-Micromelia Syndrome	Neonatal death, Intrauterine growth retardation, Pulmonary hypoplasia	OMIM:251230
1Q41Q42 Microdeletion Syndrome	Pulmonary hypoplasia	ORPHA:250999
Autoimmune Hemolytic Anemia, Warm Type	Pallor, Exertional dyspnea	ORPHA:90033
Neurodegeneration And Seizures Due To Copper Transport Defect	Respiratory distress, Pneumothorax, Pulmonary hypoplasia	OMIM:620306
Meacham Syndrome	Death in infancy, Partial anomalous pulmonary venous return, Cardiac total anomalous pulmonary ve...	OMIM:608978
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Neonatal respiratory distress, Pulmonary hypoplasia	OMIM:616866
Cold Agglutinin Disease	Pallor	ORPHA:56425
Diaphanospondylodysostosis	Respiratory distress, Respiratory insufficiency, Pulmonary hypoplasia, Tracheomalacia, Intrauteri...	OMIM:608022
Platyspondylic Dysplasia, Torrance Type	Pulmonary hypoplasia	ORPHA:85166
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Pallor	ORPHA:13
Autosomal Recessive Malignant Osteopetrosis	Recurrent respiratory infections, Apnea, Pulmonary artery stenosis, Pallor, Chronic rhinitis, Pul...	ORPHA:667
Anemia, Hypochromic Microcytic, With Iron Overload 2	Pallor	OMIM:615234
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Pallor	ORPHA:263455
Childhood Absence Epilepsy	Pallor, Hyperventilation	ORPHA:64280
Pyruvate Kinase Deficiency Of Red Cells	Intrauterine growth retardation, Pallor	OMIM:266200
Dyssegmental Dysplasia, Silverman-Handmaker Type	Miscarriage, Pulmonary hypoplasia, Respiratory insufficiency	ORPHA:1865
Retinitis Pigmentosa 75	Pallor	OMIM:617023
Autosomal Recessive Cutis Laxa Type 1	Redundant skin, Pneumothorax, Recurrent pneumonia, Lack of skin elasticity, Respiratory insuffici...	ORPHA:90349
Anemia, Sideroblastic, 1	Anemic pallor	OMIM:300751
Beta-Ketothiolase Deficiency	Tachypnea, Pallor, Cough	ORPHA:134
Digeorge Syndrome	Atelectasis, Asthma, Recurrent pneumonia, Chronic pulmonary obstruction, Recurrent sinusitis	OMIM:188400
Beta-Thalassemia Intermedia	Pulmonary arterial hypertension, Pallor, Skin ulcer	ORPHA:231222
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Pulmonary hypoplasia, Interstitial emphysema, Bronchiectasis	OMIM:619708
Congenital Total Pulmonary Venous Return Anomaly	Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve...	ORPHA:99125
Marden-Walker Syndrome	Intrauterine growth retardation, Pulmonary hypoplasia	OMIM:248700
Cone-Rod Dystrophy 8	Pallor	OMIM:605549
Acro-Renal-Mandibular Syndrome	Intrauterine growth retardation, Abnormal lung lobation, Pulmonary hypoplasia	ORPHA:958
Kagami-Ogata Syndrome	Pulmonary arterial hypertension, Pulmonary hypoplasia	OMIM:608149
Absence Of The Pulmonary Artery	Recurrent respiratory infections, Orthopnea, Abnormal pulmonary thoracic imaging finding, Nonprod...	ORPHA:980
Achondroplasia	Respiratory distress, Death in infancy, Upper airway obstruction, Pulmonary hypoplasia	OMIM:100800
Dominant Beta-Thalassemia	Dyspnea, Pallor, Skin ulcer	ORPHA:231226
Multiple Endocrine Neoplasia Type 2	Neoplasm of the lung, Pallor	ORPHA:653
Meckel Syndrome, Type 6	Bilobed right lung, Pulmonary hypoplasia	OMIM:612284
Senior-Loken Syndrome 8	Pallor	OMIM:616307
Teebi Hypertelorism Syndrome 1	Pulmonary hypoplasia	OMIM:145420
Aregenerative Anemia	Dyspnea, Pallor	ORPHA:101096
Lethal Congenital Contracture Syndrome 10	Intrauterine growth retardation, Pulmonary hypoplasia	OMIM:617022
Congenital Myopathy 17	Respiratory tract infection, Pulmonary hypoplasia, Respiratory insufficiency	OMIM:618975
Myopathy, Mitochondrial, And Ataxia	Pallor	OMIM:617675
Plummer-Vinson Syndrome	Pallor	ORPHA:54028
Sarcoidosis, Susceptibility To, 1	Dyspnea, Emphysema, Bronchiectasis, Abnormal pulmonary interstitial morphology, Pulmonary infiltr...	OMIM:181000
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Neonatal death, Pulmonary hypoplasia	OMIM:263200
3-Hydroxy-3-Methylglutaric Aciduria	Tachypnea, Apnea, Pallor	ORPHA:20
Elliptocytosis 1	Pallor	OMIM:611804
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Recurrent respiratory infections, Aortopulmonary window, Pulmonary hypoplasia, Pulmonary artery a...	ORPHA:99050
Caudal Regression Syndrome	Pulmonary hypoplasia	ORPHA:3027
Sporadic Pheochromocytoma/Secreting Paraganglioma	Pallor	ORPHA:276621
Congenital Dyserythropoietic Anemia Type Iii	Pallor	ORPHA:98870
Meckel Syndrome 14	Pneumothorax, Pulmonary hypoplasia, Cardiorespiratory arrest	OMIM:619879
Czeizel-Losonci Syndrome	Pulmonary hypoplasia	ORPHA:2437
Distal Triplication 15Q	Intrauterine growth retardation, Pulmonary hypoplasia	ORPHA:314588
Chromosome 1Q41-Q42 Deletion Syndrome	Pulmonary hypoplasia	OMIM:612530
Genitopatellar Syndrome	Apnea, Pulmonary hypoplasia	ORPHA:85201
Hereditary Spherocytosis	Pallor, Skin ulcer	ORPHA:822
Beta-Thalassemia Major	Dyspnea, Pallor, Skin ulcer	ORPHA:231214
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Pulmonary hypoplasia	OMIM:615503
Refractory Anemia With Excess Blasts	Anemic pallor, Exertional dyspnea	ORPHA:86839
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Pulmonary hypoplasia	OMIM:614091
Non-Functioning Pituitary Adenoma	Pallor	ORPHA:91349
Renal Agenesis, Bilateral	Pulmonary hypoplasia	ORPHA:1848
Alternating Hemiplegia Of Childhood	Respiratory distress, Aspiration, Apnea, Pallor	ORPHA:2131
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Mild intrauterine growth retardation, Stillbirth, Pulmonary hypoplasia, Erythema	OMIM:308050
Atelosteogenesis Type I	Pulmonary hypoplasia	ORPHA:1190
Degcags Syndrome	Pneumonia, Asthma, Rhinitis, Pallor, Tracheomalacia, Pulmonary arterial hypertension, Chronic lun...	OMIM:619488
Achondrogenesis, Type Ia	Stillbirth, Pulmonary hypoplasia	OMIM:200600
Peroxisome Biogenesis Disorder 1A (Zellweger)	Neonatal respiratory distress, Redundant neck skin, Pulmonary hypoplasia, Death in childhood	OMIM:214100
Acrocephalopolydactylous Dysplasia	Pulmonary hypoplasia, Extrapulmonary sequestrum	OMIM:200995
Lmna-Related Cardiocutaneous Progeria Syndrome	Premature skin wrinkling, Emphysema, Abnormality of the pulmonary artery	ORPHA:363618
Stuve-Wiedemann Syndrome 1	Death in infancy, Apnea, Pulmonary arterial medial hypertrophy, Respiratory insufficiency, Pulmon...	OMIM:601559
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Recurrent respiratory infections, Pulmonary hypoplasia, Respiratory insufficiency, Death in infancy	OMIM:208500
Imerslund-Gräsbeck Syndrome	Pallor	ORPHA:35858
Adenohypophysitis	Pallor	ORPHA:95512
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Pallor	ORPHA:300298
Renal Agenesis	Pulmonary hypoplasia	ORPHA:411709
Mosaic Trisomy 16	Intrauterine growth retardation, Abnormal lung morphology, Pulmonary hypoplasia	ORPHA:1708
Panhypophysitis	Pallor	ORPHA:95513
Autosomal Dominant Cutis Laxa	Redundant neck skin, Redundant skin, Bronchiectasis, Cutis laxa, Premature skin wrinkling, Bronch...	ORPHA:90348
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Stillbirth, Pulmonary hypoplasia, Respiratory insufficiency	OMIM:616300
Ehlers-Danlos Syndrome, Vascular Type	Pulmonary bulla, Dermal translucency, Recurrent intrapulmonary hemorrhage, Spontaneous pneumothor...	OMIM:130050
Sheehan Syndrome	Dry skin, Pallor	ORPHA:91355
Autosomal Recessive Multiple Pterygium Syndrome	Intrauterine growth retardation, Neonatal respiratory distress, Pulmonary hypoplasia	ORPHA:2990
Pituitary Apoplexy	Pallor	ORPHA:95613
Thoracoabdominal Syndrome	Pulmonary hypoplasia	OMIM:313850
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Respiratory failure requiring assisted ventilation, Elevated pulmonary artery pressure, Pulmonary...	OMIM:619351
Neu-Laxova Syndrome	Intrauterine growth retardation, Pulmonary hypoplasia, Lack of skin elasticity	ORPHA:2671
Keutel Syndrome	Sinusitis, Miscarriage, Recurrent bronchitis, Pulmonary artery hypoplasia, Emphysema, Chronic sin...	OMIM:245150
Cutis Laxa, Autosomal Recessive, Type Ib	Emphysema, Cutis laxa, Pulmonary artery aneurysm, Pulmonary artery dilatation, Dermal translucency	OMIM:614437
Hereditary Pheochromocytoma-Paraganglioma	Pallor	ORPHA:29072
Pearson Marrow-Pancreas Syndrome	Erythema, Pallor, Death in childhood	OMIM:557000
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Pallor	OMIM:194380
Systemic Mastocytosis With Associated Hematologic Neoplasm	Pallor	ORPHA:98849
Joubert Syndrome 21	Apnea, Dyspnea, Respiratory failure, Pulmonary hypoplasia, Chronic sinusitis	OMIM:615636
Oligomeganephronia	Pulmonary venous occlusion, Pulmonary hypoplasia	ORPHA:2260
Prolactinoma	Pallor	ORPHA:2965
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Pallor	OMIM:300908
Pentalogy Of Cantrell	Pulmonary hypoplasia	ORPHA:1335
Fumarase Deficiency	Pallor	OMIM:606812
Nocardiosis	Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Emphysema, Pneum...	ORPHA:31204
Raine Syndrome	Neonatal death, Death in infancy, Pulmonary hypoplasia	OMIM:259775
Congenital Myopathy 22B, Severe Fetal	Respiratory distress, Pleural effusion, Pulmonary hypoplasia	OMIM:620369
Retinitis Pigmentosa And Erythrocytic Microcytosis	Pallor	OMIM:616959
Pagod Syndrome	Death in infancy, Pulmonary artery hypoplasia, Abnormality of the pulmonary artery, Pulmonary hyp...	ORPHA:991
Chromosome 13Q33-Q34 Deletion Syndrome	Pulmonary hypoplasia	OMIM:619148
Incontinentia Pigmenti	Erythema, Pallor	OMIM:308300
Truncus Arteriosus	Anomalous origin of one pulmonary artery from ascending aorta, Pulmonary artery stenosis, Tachypn...	ORPHA:3384
Vacterl With Hydrocephalus	Intrauterine growth retardation, Pulmonary hypoplasia	ORPHA:3412
Renal-Hepatic-Pancreatic Dysplasia 1	Neonatal death, Pulmonary hypoplasia	OMIM:208540
Mosaic Trisomy 1	Pulmonary artery atresia, Pulmonary hypoplasia	ORPHA:1692
Lethal Congenital Contracture Syndrome 9	Intrauterine growth retardation, Pulmonary hypoplasia, Cardiorespiratory arrest	OMIM:616503
Diaphragmatic Hernia 4, With Cardiovascular Defects	Neonatal respiratory distress, Aortopulmonary window, Pulmonary artery hypoplasia, Pulmonary hypo...	OMIM:620025
Atelosteogenesis Type Ii	Tracheobronchomalacia, Pulmonary hypoplasia	ORPHA:56304
Tarp Syndrome	Intrauterine growth retardation, Apnea, Pulmonary hypoplasia	ORPHA:2886
Fontaine Progeroid Syndrome	Death in infancy, Dermal translucency, Redundant skin, Pneumothorax, Respiratory insufficiency, P...	OMIM:612289
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Pulmonary hypoplasia	OMIM:614080
Fryns Syndrome	Pulmonary hypoplasia	ORPHA:2059
Greenberg Dysplasia	Neonatal death, Stillbirth, Abnormal lung lobation, Pulmonary hypoplasia	OMIM:215140
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Neonatal death, Pulmonary hypoplasia	OMIM:617925
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Pulmonary hypoplasia	OMIM:271520
Restrictive Dermopathy 1	Stillbirth, Scaling skin, Pulmonary hypoplasia, Neonatal death, Intrauterine growth retardation	OMIM:275210
Fanconi Anemia, Complementation Group C	Intrauterine growth retardation, Anemic pallor	OMIM:227645
Ogden Syndrome	Redundant neck skin, Apnea, Redundant skin, Facial wrinkling, Pulmonary artery stenosis, Cutis la...	OMIM:300855
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Pulmonary hypoplasia	OMIM:616546
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome	Pulmonary hypoplasia	ORPHA:1112
Multiple Pterygium Syndrome, Escobar Variant	Neonatal respiratory distress, Pulmonary hypoplasia	OMIM:265000
Otopalatodigital Syndrome Type 2	Pulmonary hypoplasia	ORPHA:90652
Acrorenal-Mandibular Syndrome	Intrauterine growth retardation, Pulmonary hypoplasia	OMIM:200980
Diamond-Blackfan Anemia 1	Intrauterine growth retardation, Pallor	OMIM:105650
Mckusick-Kaufman Syndrome	Pulmonary hypoplasia	OMIM:236700
Blomstrand Lethal Chondrodysplasia	Pulmonary hypoplasia	ORPHA:50945
Spondylodysplastic Ehlers-Danlos Syndrome	Restrictive ventilatory defect, Pulmonary hypoplasia, Respiratory insufficiency, Cutis laxa	ORPHA:536471
Tsh-Secreting Pituitary Adenoma	Pallor	ORPHA:91347
Alg9-Cdg	Asthma, Abnormal lung lobation, Pulmonary hypoplasia	ORPHA:79328
Fanconi Anemia, Complementation Group E	Anemic pallor	OMIM:600901
Fetal Akinesia Deformation Sequence 1	Intrauterine growth retardation, Stillbirth, Pulmonary hypoplasia	OMIM:208150
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Anemic pallor	ORPHA:329971
Fanconi Anemia, Complementation Group A	Anemic pallor	OMIM:227650
Fryns Syndrome	Chylothorax, Stillbirth, Pulmonary hypoplasia	OMIM:229850
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Pulmonary hypoplasia	OMIM:263520
Tetraamelia Syndrome 1	Peripheral pulmonary vessel aplasia, Pulmonary hypoplasia	OMIM:273395
Meier-Gorlin Syndrome 7	Pulmonary hypoplasia	OMIM:617063
Diamond-Blackfan Anemia	Pallor	ORPHA:124
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Redundant neck skin, Miscarriage, Pulmonary artery stenosis, Cutis laxa, Restrictive ventilatory ...	ORPHA:96334
Orofaciodigital Syndrome Type 4	Bilateral lung agenesis, Recurrent respiratory infections, Pulmonary hypoplasia, Intrauterine gro...	ORPHA:2753
Fanconi Anemia, Complementation Group D2	Anemic pallor	OMIM:227646
Autosomal Recessive Polycystic Kidney Disease	Hypoventilation, Spontaneous pneumothorax, Recurrent pneumonia, Respiratory failure, Pulmonary hy...	ORPHA:731
Neu-Laxova Syndrome 1	Neonatal death, Intrauterine growth retardation, Stillbirth, Pulmonary hypoplasia	OMIM:256520
Von Hippel-Lindau Disease	Pallor	ORPHA:892
Restrictive Dermopathy	Intrauterine growth retardation, Scaling skin, Pulmonary hypoplasia, Dermal translucency	ORPHA:1662
Distal Deletion 15Q	Intrauterine growth retardation, Pulmonary hypoplasia	ORPHA:1596
Smith-Lemli-Opitz Syndrome	Intrauterine growth retardation, Abnormal lung lobation, Pulmonary hypoplasia	ORPHA:818
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Respiratory distress, Intrauterine growth retardation, Pulmonary hypoplasia	ORPHA:83617
Ulbright-Hodes Syndrome	Respiratory distress, Pneumothorax, Respiratory failure, Severe intrauterine growth retardation, ...	ORPHA:3404
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Pallor	OMIM:253280
Smith-Lemli-Opitz Syndrome	Intrauterine growth retardation, Abnormal lung lobation, Pulmonary hypoplasia, Death in infancy	OMIM:270400
Cardiac-Urogenital Syndrome	Scimitar anomaly, Partial anomalous pulmonary venous return, Pulmonary hypoplasia, Tracheomalacia	OMIM:618280
Penile Agenesis	Bilateral lung agenesis, Pulmonary hypoplasia	ORPHA:49
Osteogenesis Imperfecta	Intrauterine growth retardation, Neonatal respiratory distress, Pulmonary hypoplasia, Cutis laxa	ORPHA:666
Meckel Syndrome, Type 1	Intrauterine growth retardation, Pulmonary hypoplasia	OMIM:249000
Dpagt1-Cdg	Pulmonary hypoplasia	ORPHA:86309
Schinzel-Giedion Syndrome	Respiratory distress, Recurrent pneumonia, Pulmonary hypoplasia	ORPHA:798
Fraser Syndrome	Death in infancy, Abnormal lung lobation, Pulmonary hypoplasia	ORPHA:2052
Tetrasomy 9P	Pulmonary arterial hypertension, Pulmonary hypoplasia, Intrauterine growth retardation	ORPHA:3310
Fraser Syndrome 1	Pulmonary hypoplasia	OMIM:219000
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Pulmonary hypoplasia, Respiratory insufficiency	ORPHA:93271
Genitopatellar Syndrome	Pulmonary hypoplasia	OMIM:606170
Pallister-Killian Syndrome	Stillbirth, Apneic episodes in infancy, Pulmonary hypoplasia, Hyperventilation	OMIM:601803
Craniofacial Microsomia 1	Pulmonary hypoplasia	OMIM:164210
Microphthalmia, Syndromic 1	Pulmonary hypoplasia	OMIM:309800

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 Atp23

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 Atp23.

No publications found that use IMPC mice or data for Atp23.

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
Atp23^{tm83140(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Atp23^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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