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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 (397 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
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Recurrent bronchitis, Atelectasis	OMIM:300455
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Recurrent respiratory infections, Bronchiectasis, Atelectasis	OMIM:619466
Ciliary Dyskinesia, Primary, 21	Recurrent pneumonia, Bronchiectasis, Atelectasis	OMIM:615294
Pulmonary Hypoplasia, Primary	Neonatal death, Pulmonary hypoplasia	OMIM:265430
Ciliary Dyskinesia, Primary, 33	Recurrent pneumonia, Atelectasis, Recurrent bronchitis, Recurrent lower respiratory tract infecti...	OMIM:616726
Ciliary Dyskinesia, Primary, 29	Recurrent respiratory infections, Bronchiectasis, Atelectasis	OMIM:615872
Renal Hypodysplasia/Aplasia 2	Redundant skin, Pulmonary hypoplasia	OMIM:615721
Emphysema, Hereditary Pulmonary	Emphysema, Chronic bronchitis	OMIM:130700
Familial Nasal Acilia	Abnormal respiratory motile cilium morphology, Recurrent upper respiratory tract infections, Bron...	ORPHA:922
Bronchopulmonary Dysplasia	Emphysema, Abnormal lung morphology, Pulmonary sequestration, Atelectasis	ORPHA:70589
Respiratory Distress Syndrome In Premature Infants	Pulmonary edema, Atelectasis	OMIM:267450
Pulmonary Blastoma	Recurrent pneumonia, Pleuropulmonary blastoma, Pulmonary infiltrates	ORPHA:64741
Meconium Aspiration Syndrome	Transient pulmonary infiltrates, Atelectasis, Aspiration pneumonia, Intrauterine growth retardati...	ORPHA:70588
C1Q Deficiency 2	Recurrent lower respiratory tract infections, Facial erythema, Bronchiectasis, Atelectasis	OMIM:620321
Pulmonary Nodular Lymphoid Hyperplasia	Ground-glass opacification, Nodular pattern on pulmonary HRCT	ORPHA:60026
Acute Interstitial Pneumonia	Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Ground-gl...	ORPHA:79126
Asbestos Intoxication	Abnormal pulmonary interstitial morphology, Atelectasis, Interlobular septal thickening, Ground-g...	ORPHA:2302
Renal Hypodysplasia/Aplasia 4	Pulmonary hypoplasia	OMIM:619887
Cutis Laxa, Neonatal, With Marfanoid Phenotype	Emphysema, Cutis laxa	OMIM:614100
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B	Neonatal death, Pulmonary hypoplasia	OMIM:615228
Bronchogenic Cyst	Pneumonia, Pulmonary cyst, Bronchogenic cyst, Atelectasis, Abnormal pleura morphology, Abnormal p...	ORPHA:2357
Mhc Class I Deficiency 1	Nasal polyposis, Bronchiolitis, Skin ulcer, Emphysema, Recurrent bronchitis, Bronchiectasis	OMIM:604571
Idiopathic Chronic Eosinophilic Pneumonia	Atelectasis, Parenchymal consolidation, Pleural effusion, Abnormal pulmonary thoracic imaging fin...	ORPHA:2902
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Bronchiolitis, Atelectasis, Pulmonary fibrosis	ORPHA:254361
Infant Acute Respiratory Distress Syndrome	Pneumonia, Pulmonary edema, Respiratory tract infection, Atelectasis	ORPHA:70587
Tracheobronchopathia Osteochondroplastica	Pneumonia, Recurrent pneumonia, Bronchitis, Atelectasis, Recurrent respiratory infections	ORPHA:3348
Recurrent Respiratory Papillomatosis	Abnormal lung morphology, Recurrent upper respiratory tract infections, Recurrent pneumonia, Atel...	ORPHA:60032
Cutis Laxa-Marfanoid Syndrome	Emphysema, Redundant skin	ORPHA:171719
Congenital Lobar Emphysema	Emphysema	ORPHA:1928
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Atelectasis, Cystic pattern on pulmonary HRCT, Ground-glass opacification, Parenchymal consolidat...	OMIM:610978
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Emphysema, Ground-glass opacification, Respiratory tract infection, Chronic bronchitis, Diffuse r...	ORPHA:79127
Epidermodysplasia Verruciformis, Susceptibility To, 4	Emphysema, Facial erythema	OMIM:618307
Mitochondrial Complex I Deficiency, Nuclear Type 35	Neonatal death, Intrauterine growth retardation, Redundant neck skin, Pulmonary hypoplasia	OMIM:619003
Idiopathic Pulmonary Hemosiderosis	Reticular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Ground-glass opacification, Nod...	ORPHA:99931
Myotubular Myopathy With Abnormal Genital Development	Death in infancy, Atelectasis, Neonatal death	OMIM:300219
Combined Oxidative Phosphorylation Deficiency 8	Neonatal death, Death in childhood, Death in infancy, Pulmonary hypoplasia	OMIM:614096
Idiopathic Bronchiectasis	Emphysema, Respiratory tract infection, Acute infectious pneumonia, Recurrent lower respiratory t...	ORPHA:60033
Lethal Congenital Contracture Syndrome 11	Intrauterine growth retardation, Pulmonary hypoplasia	OMIM:617194
Waardenburg Syndrome Type 3	Atelectasis	ORPHA:896
Birt-Hogg-Dubé Syndrome	Emphysema, Pneumothorax, Pulmonary sequestration	ORPHA:122
Idiopathic Acute Eosinophilic Pneumonia	Abnormal pleura morphology, Pulmonary infiltrates	ORPHA:724
Pulmonary Hemosiderosis	Pulmonary fibrosis, Recurrent intrapulmonary hemorrhage, Transient pulmonary infiltrates	OMIM:178550
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism	Pulmonary hypoplasia	OMIM:613124
Larsen-Like Syndrome, Lethal Type	Neonatal death, Pulmonary hypoplasia	OMIM:245650
Ciliary Dyskinesia, Primary, 1	Pneumonia, Nasal polyposis, Atelectasis, Recurrent bronchitis, Bronchiectasis, Absent outer dynei...	OMIM:244400
Interstitial Lung Disease 1	Usual interstitial pneumonia, Intralobular septal thickening, Interlobular septal thickening, Gro...	OMIM:619611
Alpha-1-Antitrypsin Deficiency	Bronchiectasis, Panacinar emphysema, Chronic bronchitis	OMIM:613490
Primary Ciliary Dyskinesia	Nasal polyposis, Atelectasis, Pulmonary situs ambiguus, Respiratory tract infection, Peribronchov...	ORPHA:244
Sarcoidosis, Susceptibility To, 2	Emphysema, Pleural effusion, Pulmonary infiltrates, Pneumothorax, Abnormal pulmonary interstitial...	OMIM:612387
Allergic Bronchopulmonary Aspergillosis	Emphysema, Bronchiectasis	ORPHA:1164
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Pulmonary hypoplasia, Abnormal lung lobation	ORPHA:2631
Pulmonary Venoocclusive Disease 1, Autosomal Dominant	Centrilobular ground-glass opacification on pulmonary HRCT, Pulmonary venous occlusion, Interlobu...	OMIM:265450
Surfactant Metabolism Dysfunction, Pulmonary, 3	Crazy paving pattern, Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Intraalv...	OMIM:610921
Microphthalmia, Syndromic 12	Neonatal death, Pulmonary hypoplasia	OMIM:615524
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency	Skin vesicle, Recurrent respiratory infections, Skin ulcer, Atelectasis	ORPHA:2314
Nphp3-Related Meckel-Like Syndrome	Pulmonary hypoplasia	ORPHA:3032
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification	Emphysema	OMIM:210050
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities	Pulmonary hypoplasia	OMIM:616531
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Abnormal pulmonary interstitial morphology, Atelectasis, Ground-glass opacification, Pleural effu...	OMIM:620233
Bronchiolitis Obliterans	Pneumonia, Ground-glass opacification, Respiratory tract infection, Bronchiolitis obliterans, Bro...	ORPHA:1303
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Intraalveolar phospholipid accumulation, Death in childhood, Death in infancy, Death in adolescen...	OMIM:618042
Renal Tubular Dysgenesis	Pulmonary hypoplasia	ORPHA:3033
Spondylospinal Thoracic Dysostosis	Pulmonary hypoplasia	OMIM:601809
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Pallor	ORPHA:46532
Idiopathic Pulmonary Fibrosis	Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Ground-glass opacification, Ho...	ORPHA:2032
Methylmalonic Acidemia With Homocystinuria, Type Cbld	Pallor	ORPHA:79283
Lethal Congenital Contracture Syndrome 1	Neonatal death, Pulmonary hypoplasia	OMIM:253310
Peripheral Cone Dystrophy	Pallor	OMIM:609021
Congenital Heart Block	Intrauterine growth retardation, Pleural effusion, Pallor	ORPHA:60041
Cutis Laxa, Autosomal Recessive, Type Ic	Peripheral pulmonary artery stenosis, Recurrent pneumonia, Atelectasis, Emphysema, Redundant skin...	OMIM:613177
Cone-Rod Dystrophy 11	Pallor	OMIM:610381
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Pulmonary hypoplasia	ORPHA:2141
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect	Stillbirth, Pulmonary hypoplasia	OMIM:617468
Rheumatic Fever	Erythema, Abnormal pleura morphology, Pallor, Recurrent pharyngitis	ORPHA:3099
Acute Peripheral Arterial Occlusion	Pallor	ORPHA:90064
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Pulmonary hypoplasia	OMIM:618174
Surfactant Metabolism Dysfunction, Pulmonary, 5	Ground-glass opacification, Intraalveolar phospholipid accumulation, Interlobular septal thickening	OMIM:614370
Ciliary Dyskinesia, Primary, 20	Recurrent pneumonia, Atelectasis, Recurrent sinusitis, Pulmonary artery stenosis, Recurrent respi...	OMIM:615067
Dermatitis, Atopic	Dry skin, Facial erythema, Pallor	OMIM:603165
Coenzyme Q10 Deficiency, Primary, 8	Intrauterine growth retardation, Pulmonary hypoplasia	OMIM:616733
Surfactant Metabolism Dysfunction, Pulmonary, 1	Absent bronchoalveolar dimeric surfactant-protein B, Intraalveolar phospholipid accumulation, Int...	OMIM:265120
Lymphangioleiomyomatosis	Chylothorax, Atelectasis, Emphysema, Pulmonary lymphangiomyomatosis, Pulmonary infiltrates, Pneum...	ORPHA:538
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency	Intraalveolar phospholipid accumulation, Spontaneous neonatal pneumothorax, Interstitial pneumoni...	ORPHA:217563
Fanconi Renotubular Syndrome 5	Emphysema, Pulmonary fibrosis, Lung adenocarcinoma	OMIM:618913
Chronic Beryllium Disease	Reticulonodular pattern on pulmonary HRCT, Ground-glass opacification, Lymphocytic interstitial p...	ORPHA:133
Whim Syndrome	Pneumonia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Atelectasis, Respir...	ORPHA:51636
Benign Paroxysmal Torticollis Of Infancy	Pallor	ORPHA:71518
Congenital Diaphragmatic Hernia	Pulmonary hypoplasia	ORPHA:2140
Deafness-Lymphedema-Leukemia Syndrome	Recurrent respiratory infections, Pallor	ORPHA:3226
Farber Disease	Diffuse reticular or finely nodular infiltrations, Recurrent upper respiratory tract infections, ...	ORPHA:333
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Pallor	ORPHA:2786
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Neonatal death, Stillbirth, Redundant neck skin, Pulmonary hypoplasia	OMIM:236500
Chand Syndrome	Dry skin, Atelectasis	ORPHA:1401
Atelosteogenesis, Type Ii	Stillbirth, Death in infancy, Pulmonary hypoplasia	OMIM:256050
Surfactant Metabolism Dysfunction, Pulmonary, 4	Ground-glass opacification, Intraalveolar phospholipid accumulation	OMIM:300770
Leber Congenital Amaurosis 14	Pallor	OMIM:613341
Hypophosphatasia	Emphysema	ORPHA:436
Hereditary Folate Malabsorption	Recurrent respiratory infections, Pallor	ORPHA:90045
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Pulmonary hypoplasia	OMIM:616867
Short-Rib Thoracic Dysplasia 12	Neonatal death, Intrauterine growth retardation, Atelectasis, Pulmonary hypoplasia	OMIM:269860
Breath-Holding Spells	Pallor	OMIM:607578
Optic Atrophy 1	Pallor	OMIM:165500
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Pulmonary hypoplasia	OMIM:601163
T-Cell Immunodeficiency With Thymic Aplasia	Emphysema, Recurrent pneumonia, Bronchiectasis, Recurrent bronchopulmonary infections	OMIM:242700
Surfactant Metabolism Dysfunction, Pulmonary, 2	Recurrent pneumonia, Intralobular septal thickening, Spontaneous pneumothorax, Intraalveolar phos...	OMIM:610913
Familial Focal Epilepsy With Variable Foci	Pallor	ORPHA:98820
Granulomatous Disease, Chronic, X-Linked	Recurrent pneumonia, Air bronchogram, Pleural effusion, Atelectasis	OMIM:306400
Hemoglobin D Disease	Pallor	ORPHA:90039
Lujo Hemorrhagic Fever	Purpura, Atelectasis, Ecchymosis	ORPHA:319213
Optic Atrophy 7 With Or Without Auditory Neuropathy	Pallor	OMIM:612989
Primary Lateral Sclerosis, Juvenile	Pallor	OMIM:606353
Pallister-Hall-Like Syndrome	Death in infancy, Pulmonary hypoplasia	OMIM:241800
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Recurrent respiratory infections, Pulmonary fibrosis, Death in childhood, Atelectasis	OMIM:618278
Alpha-1-Antitrypsin Deficiency	Emphysema, Bronchiectasis, Bronchitis	ORPHA:60
Primary Pulmonary Hypoplasia	Abnormal pulmonary artery morphology, Intrauterine growth retardation, Pneumothorax, Recurrent re...	ORPHA:2257
Acute Myelomonocytic Leukemia	Pallor	ORPHA:517
Thanatophoric Dysplasia	Intrauterine growth retardation, Redundant skin, Pulmonary hypoplasia	ORPHA:2655
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Emphysema, Pulmonary fibrosis	OMIM:620365
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Pallor	OMIM:613561
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Dermal translucency, Repeated pneumothoraces, Atelectasis, Pulmonary hypoplasia	ORPHA:536467
Achondrogenesis Type 2	Pulmonary hypoplasia	ORPHA:93296
Congenital Myopathy 1B, Autosomal Recessive	Recurrent respiratory infections, Pulmonary hypoplasia	OMIM:255320
Netherton Syndrome	Emphysema, Dry skin, Recurrent respiratory infections	ORPHA:634
X-Linked Sideroblastic Anemia	Pallor	ORPHA:75563
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Recurrent lower respiratory tract infections, Atelectasis	ORPHA:258
Goodpasture Syndrome	Reticular pattern on pulmonary HRCT, Ground-glass opacification, Pulmonary hemorrhage, Nodular pa...	OMIM:233450
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Pallor	ORPHA:276608
Lethal Congenital Contracture Syndrome Type 1	Pulmonary hypoplasia	ORPHA:1486
Zygomycosis	Atelectasis, Pleural effusion, Parenchymal consolidation, Pulmonary infiltrates, Pneumothorax, Ac...	ORPHA:73263
Renal Tubular Dysgenesis	Pulmonary hypoplasia	OMIM:267430
Renal-Hepatic-Pancreatic Dysplasia 2	Pulmonary hypoplasia, Stillbirth, Abnormal lung lobation	OMIM:615415
Waldenström Macroglobulinemia	Purpura, Pleural effusion, Pallor, Pulmonary infiltrates	ORPHA:33226
Cutis Laxa, Autosomal Recessive, Type Ia	Peripheral pulmonary artery stenosis, Emphysema, Redundant skin, Cutis laxa, Recurrent respirator...	OMIM:219100
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Congenital pulmonary airway malformation, Intrauterine growth retardation, Bilateral lung agenesi...	OMIM:611812
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Intrauterine growth retardation, Pulmonary hypoplasia	ORPHA:3035
Matthew-Wood Syndrome	Abnormal lung morphology, Intrauterine growth retardation, Pulmonary hypoplasia	ORPHA:2470
Spontaneous Periodic Hypothermia	Pallor	ORPHA:29822
Immunodeficiency 89 And Autoimmunity	Recurrent lower respiratory tract infections, Pulmonary bulla, Bronchiectasis, Pleural thickening	OMIM:619632
Pulmonary Alveolar Proteinosis, Acquired	Pneumonia, Recurrent respiratory infections, Intraalveolar phospholipid accumulation, Lung abscess	OMIM:610910
Meier-Gorlin Syndrome 4	Emphysema, Intrauterine growth retardation	OMIM:613804
Cutis Laxa, Autosomal Dominant 1	Peripheral pulmonary artery stenosis, Emphysema, Redundant skin, Cutis laxa, Bronchiectasis	OMIM:123700
Serkal Syndrome	Pulmonary hypoplasia	ORPHA:139466
Relapsing Polychondritis	Erythema, Purpura, Atelectasis	ORPHA:728
Cyclic Vomiting Syndrome	Pallor	OMIM:500007
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Pulmonary artery atresia, Atelectasis, Pulmonary hypoplasia	OMIM:620371
Thiamine-Responsive Megaloblastic Anemia Syndrome	Pallor	ORPHA:49827
Maternal Uniparental Disomy Of Chromosome 2	Intrauterine growth retardation, Respiratory infections in early life, Miscarriage, Pulmonary hyp...	ORPHA:96179
Dyssegmental Dysplasia, Silverman-Handmaker Type	Neonatal death, Pulmonary hypoplasia	OMIM:224410
Odontochondrodysplasia 1	Recurrent respiratory infections, Death in infancy, Pulmonary hypoplasia	OMIM:184260
Common Variable Immunodeficiency	Pneumonia, Emphysema, Recurrent bronchitis, Recurrent respiratory infections, Purpura, Bronchiect...	ORPHA:1572
Gillessen-Kaesbach-Nishimura Syndrome	Pulmonary hypoplasia, Abnormal lung lobation	OMIM:263210
Tonne-Kalscheuer Syndrome	Pulmonary hypoplasia	OMIM:300978
Multiple Pterygium Syndrome, X-Linked	Intrauterine growth retardation, Pulmonary hypoplasia	OMIM:312150
Hyperinsulinism Due To Ucp2 Deficiency	Pallor	ORPHA:276556
Autosomal Recessive Cutis Laxa Type 1	Peripheral pulmonary artery stenosis, Recurrent pneumonia, Emphysema, Intrauterine growth retarda...	ORPHA:90349
Retinitis Pigmentosa 51	Pallor	OMIM:613464
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Pallor	ORPHA:276575
Renal Hypodysplasia/Aplasia 1	Pulmonary hypoplasia	OMIM:191830
Fetal Akinesia Deformation Sequence	Intrauterine growth retardation, Pulmonary hypoplasia	ORPHA:994
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Pallor	ORPHA:276580
Hyperinsulinism Due To Hnf1A Deficiency	Pallor	ORPHA:324575
Evans Syndrome	Pallor, Petechiae	ORPHA:1959
Multiple Pterygium Syndrome, Lethal Type	Intrauterine growth retardation, Pulmonary hypoplasia	OMIM:253290
Glycogen Storage Disease Due To Acid Maltase Deficiency	Respiratory tract infection, Atelectasis	ORPHA:365
Myopathic Ehlers-Danlos Syndrome	Pallor	ORPHA:536516
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Pallor, Recurrent upper and lower respiratory tract infections	ORPHA:331206
Dravet Syndrome	Pallor	ORPHA:33069
Nephronophthisis 2	Pulmonary hypoplasia	OMIM:602088
Thanatophoric Dysplasia, Type I	Neonatal death, Pulmonary hypoplasia	OMIM:187600
Alg3-Cdg	Pulmonary hypoplasia	ORPHA:79321
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Neonatal death, Pulmonary hypoplasia	OMIM:314390
Leishmaniasis	Pallor, Skin ulcer	ORPHA:507
Anemia, Congenital Dyserythropoietic, Type Ib	Pallor	OMIM:615631
Pericardial And Diaphragmatic Defect	Pulmonary sequestration, Pulmonary hypoplasia	ORPHA:2847
Agnathia-Otocephaly Complex	Pulmonary hypoplasia	OMIM:202650
Beta-Thalassemia	Pallor, Skin ulcer	ORPHA:848
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Pulmonary artery atresia, Recurrent respiratory infections, Pulmonary hypoplasia	OMIM:618316
Primary Myelofibrosis	Purpura, Petechiae, Pallor, Ecchymosis	ORPHA:824
Congenital Tracheomalacia	Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, Em...	ORPHA:95430
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Intrauterine growth retardation, Pulmonary hypoplasia	ORPHA:86822
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Pulmonary hypoplasia	OMIM:617895
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Intrauterine growth retardation, Pleural effusion, Pulmonary hypoplasia	OMIM:616897
Microcephaly-Micromelia Syndrome	Neonatal death, Intrauterine growth retardation, Pulmonary hypoplasia	OMIM:251230
1Q41Q42 Microdeletion Syndrome	Pulmonary hypoplasia	ORPHA:250999
Platyspondylic Dysplasia, Torrance Type	Pulmonary hypoplasia	ORPHA:85166
Meacham Syndrome	Congenital alveolar dysplasia, Scimitar anomaly, Death in childhood, Neonatal death, Death in inf...	OMIM:608978
Hypocomplementemic Urticarial Vasculitis	Emphysema, Pleural effusion	ORPHA:36412
Oculocerebrorenal Syndrome Of Lowe	Death in infancy, Recurrent respiratory infections, Skin ulcer, Atelectasis	ORPHA:534
Non-Functioning Paraganglioma	Pallor	ORPHA:94080
Esophageal Atresia	Recurrent respiratory infections, Pallor, Bronchitis, Pulmonary hypoplasia	ORPHA:1199
Microphthalmia, Syndromic 9	Agenesis of pulmonary vessels, Alveolar capillary dysplasia, Bilateral lung agenesis, Intrauterin...	OMIM:601186
22Q11.2 Deletion Syndrome	Intrauterine growth retardation, Purpura, Atelectasis, Abnormal lung lobation	ORPHA:567
Severe Congenital Nemaline Myopathy	Pulmonary hypoplasia	ORPHA:171430
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Pallor	OMIM:613839
Letterer-Siwe Disease	Pallor, Pulmonary infiltrates	OMIM:246400
Gaucher Disease, Perinatal Lethal	Intrauterine growth retardation, Petechiae, Neonatal death, Purpura, Pulmonary hypoplasia	OMIM:608013
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Stillbirth, Pulmonary hypoplasia	OMIM:151210
Kcnq2-Related Epileptic Encephalopathy	Facial erythema, Pallor	ORPHA:439218
Multiple Acyl-Coa Dehydrogenase Deficiency	Neonatal death, Pulmonary hypoplasia	OMIM:231680
Tetrasomy 5P	Recurrent respiratory infections, Redundant neck skin, Pulmonary hypoplasia	ORPHA:3309
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Pallor	OMIM:611590
Hb Bart'S Hydrops Fetalis	Pallor	ORPHA:163596
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Pulmonary hypoplasia	OMIM:616866
Neurodegeneration And Seizures Due To Copper Transport Defect	Pneumothorax, Pulmonary hypoplasia	OMIM:620306
Irida Syndrome	Pallor	ORPHA:209981
Scimitar Syndrome	Pulmonary artery hypoplasia, Bronchogenic cyst, Pneumothorax, Partial anomalous pulmonary venous ...	ORPHA:185
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Pallor	OMIM:600462
Fanconi Anemia, Complementation Group I	Intrauterine growth retardation, Pallor	OMIM:609053
Infection-Related Hemolytic Uremic Syndrome	Pneumonia, Pallor, Respiratory tract infection, Pleuritis, Pleural empyema	ORPHA:544482
Acquired Idiopathic Sideroblastic Anemia	Pallor	ORPHA:75564
Drug-Induced Autoimmune Hemolytic Anemia	Pallor	ORPHA:90037
Loeys-Dietz Syndrome 4	Emphysema, Striae distensae, Pneumothorax, Cutis laxa	OMIM:614816
Marden-Walker Syndrome	Intrauterine growth retardation, Pulmonary hypoplasia	OMIM:248700
Acro-Renal-Mandibular Syndrome	Intrauterine growth retardation, Pulmonary hypoplasia, Abnormal lung lobation	ORPHA:958
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Interstitial emphysema, Bronchiectasis, Pulmonary hypoplasia	OMIM:619708
Cold Agglutinin Disease	Pallor	ORPHA:56425
Dyssegmental Dysplasia, Silverman-Handmaker Type	Miscarriage, Pulmonary hypoplasia	ORPHA:1865
Diaphanospondylodysostosis	Intrauterine growth retardation, Pulmonary hypoplasia	OMIM:608022
Teebi Hypertelorism Syndrome 1	Pulmonary hypoplasia	OMIM:145420
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Pallor	ORPHA:13
Mixed-Type Autoimmune Hemolytic Anemia	Pallor	ORPHA:90036
Meckel Syndrome, Type 6	Bilobed right lung, Pulmonary hypoplasia	OMIM:612284
Idiopathic Hypereosinophilic Syndrome	Pulmonary fibrosis, Pleural effusion, Pallor, Pulmonary infiltrates	ORPHA:3260
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Neonatal death, Pulmonary hypoplasia	OMIM:263200
Histiocytoid Cardiomyopathy	Pulmonary edema, Pallor	ORPHA:137675
Lethal Congenital Contracture Syndrome 10	Intrauterine growth retardation, Pulmonary hypoplasia	OMIM:617022
Pyruvate Kinase Deficiency Of Red Cells	Intrauterine growth retardation, Pallor	OMIM:266200
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Pallor	ORPHA:263455
Lmna-Related Cardiocutaneous Progeria Syndrome	Emphysema, Abnormality of the pulmonary artery, Premature skin wrinkling	ORPHA:363618
Myelofibrosis	Purpura, Pallor	OMIM:254450
Kagami-Ogata Syndrome	Pulmonary hypoplasia	OMIM:608149
Retinitis Pigmentosa 75	Pallor	OMIM:617023
Caudal Regression Syndrome	Pulmonary hypoplasia	ORPHA:3027
American Trypanosomiasis	Pallor	ORPHA:3386
Czeizel-Losonci Syndrome	Pulmonary hypoplasia	ORPHA:2437
Anemia, Hypochromic Microcytic, With Iron Overload 2	Pallor	OMIM:615234
Ehlers-Danlos Syndrome, Vascular Type	Dermal translucency, Diffuse alveolar hemorrhage, Spontaneous pneumothorax, Emphysema, Nodular pa...	OMIM:130050
Distal Triplication 15Q	Intrauterine growth retardation, Pulmonary hypoplasia	ORPHA:314588
Chromosome 1Q41-Q42 Deletion Syndrome	Pulmonary hypoplasia	OMIM:612530
Autosomal Dominant Cutis Laxa	Peripheral pulmonary artery stenosis, Bronchiolitis, Premature skin wrinkling, Emphysema, Intraut...	ORPHA:90348
Atelosteogenesis Type I	Pulmonary hypoplasia	ORPHA:1190
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Pulmonary hypoplasia	OMIM:615503
Anemia, Sideroblastic, 1	Anemic pallor	OMIM:300751
Renal Agenesis, Bilateral	Pulmonary hypoplasia	ORPHA:1848
Tay-Sachs Disease	Pallor	OMIM:272800
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Pulmonary hypoplasia	OMIM:614091
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Pallor, Death in childhood	OMIM:246450
Cone-Rod Dystrophy 8	Pallor	OMIM:605549
Acrocephalopolydactylous Dysplasia	Extrapulmonary lobar sequestration, Pulmonary hypoplasia	OMIM:200995
Achondroplasia	Death in infancy, Pulmonary hypoplasia	OMIM:100800
Achondrogenesis, Type Ia	Stillbirth, Pulmonary hypoplasia	OMIM:200600
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Erythema, Mild intrauterine growth retardation, Stillbirth, Pulmonary hypoplasia	OMIM:308050
Autosomal Recessive Malignant Osteopetrosis	Pulmonary artery stenosis, Recurrent respiratory infections, Pallor	ORPHA:667
Sarcoidosis, Susceptibility To, 1	Emphysema, Pleural effusion, Pulmonary infiltrates, Abnormal pulmonary interstitial morphology, P...	OMIM:181000
Multiple Endocrine Neoplasia Type 2	Pallor, Neoplasm of the lung	ORPHA:653
Congenital Myopathy 17	Respiratory tract infection, Pulmonary hypoplasia	OMIM:618975
Renal Agenesis	Pulmonary hypoplasia	ORPHA:411709
Autoimmune Hemolytic Anemia, Warm Type	Pallor	ORPHA:90033
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Intrauterine growth retardation, Pallor	OMIM:301310
Digeorge Syndrome	Recurrent pneumonia, Recurrent sinusitis, Atelectasis	OMIM:188400
Meckel Syndrome 14	Pneumothorax, Pulmonary hypoplasia	OMIM:619879
Senior-Loken Syndrome 8	Pallor	OMIM:616307
Thoracoabdominal Syndrome	Pulmonary hypoplasia	OMIM:313850
Mosaic Trisomy 16	Abnormal lung morphology, Intrauterine growth retardation, Pulmonary hypoplasia	ORPHA:1708
Sepsis In Premature Infants	Purpura, Petechiae, Pallor	ORPHA:90051
Beta-Thalassemia Intermedia	Pallor, Skin ulcer	ORPHA:231222
Neu-Laxova Syndrome	Lack of skin elasticity, Intrauterine growth retardation, Pulmonary hypoplasia	ORPHA:2671
Plummer-Vinson Syndrome	Pallor	ORPHA:54028
Myopathy, Mitochondrial, And Ataxia	Pallor	OMIM:617675
Stuve-Wiedemann Syndrome 1	Premature skin wrinkling, Intrauterine growth retardation, Death in infancy, Pulmonary arterial m...	OMIM:601559
Childhood Absence Epilepsy	Pallor	ORPHA:64280
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Anomalous origin of right pulmonary artery from ascending aorta, Anomalous origin of left pulmona...	ORPHA:99050
Genitopatellar Syndrome	Pulmonary hypoplasia	ORPHA:85201
Peroxisome Biogenesis Disorder 1A (Zellweger)	Death in childhood, Redundant neck skin, Pulmonary hypoplasia	OMIM:214100
Congenital Dyserythropoietic Anemia Type Iii	Pallor	ORPHA:98870
Fructose-1,6-Bisphosphatase Deficiency	Pallor	ORPHA:348
Oligomeganephronia	Pulmonary venous occlusion, Pulmonary hypoplasia	ORPHA:2260
Keutel Syndrome	Pulmonary artery hypoplasia, Peripheral pulmonary artery stenosis, Emphysema, Recurrent bronchiti...	OMIM:245150
Cutis Laxa, Autosomal Recessive, Type Ib	Pulmonary artery aneurysm, Pulmonary artery dilatation, Emphysema, Death in childhood, Neonatal d...	OMIM:614437
Pentalogy Of Cantrell	Pulmonary hypoplasia	ORPHA:1335
Sporadic Pheochromocytoma/Secreting Paraganglioma	Pallor	ORPHA:276621
Elliptocytosis 1	Pallor	OMIM:611804
Meier-Gorlin Syndrome 6	Emphysema, Recurrent respiratory infections	OMIM:616835
Absence Of The Pulmonary Artery	Recurrent pneumonia, Pulmonary edema, Abnormal pulmonary thoracic imaging finding, Recurrent resp...	ORPHA:980
Beta-Ketothiolase Deficiency	Pallor	ORPHA:134
Dominant Beta-Thalassemia	Pallor, Skin ulcer	ORPHA:231226
Raine Syndrome	Neonatal death, Death in infancy, Pulmonary hypoplasia	OMIM:259775
Pagod Syndrome	Death in infancy, Pulmonary artery hypoplasia, Abnormality of the pulmonary artery, Pulmonary hyp...	ORPHA:991
Neonatal Marfan Syndrome	Emphysema, Cutis laxa	ORPHA:284979
Autosomal Recessive Multiple Pterygium Syndrome	Intrauterine growth retardation, Pulmonary hypoplasia	ORPHA:2990
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Recurrent respiratory infections, Death in infancy, Pulmonary hypoplasia	OMIM:208500
Hereditary Spherocytosis	Pallor, Skin ulcer	ORPHA:822
Ellis Van Creveld Syndrome	Emphysema, Intrauterine growth retardation, Aplasia/Hypoplasia of the lungs	ORPHA:289
Chromosome 13Q33-Q34 Deletion Syndrome	Pulmonary hypoplasia	OMIM:619148
Vacterl With Hydrocephalus	Intrauterine growth retardation, Pulmonary hypoplasia	ORPHA:3412
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Stillbirth, Pulmonary hypoplasia	OMIM:616300
Renal-Hepatic-Pancreatic Dysplasia 1	Neonatal death, Pulmonary hypoplasia	OMIM:208540
Mosaic Trisomy 1	Pulmonary artery atresia, Pulmonary hypoplasia	ORPHA:1692
Non-Functioning Pituitary Adenoma	Pallor	ORPHA:91349
Imerslund-Gräsbeck Syndrome	Pallor	ORPHA:35858
3-Hydroxy-3-Methylglutaric Aciduria	Pallor	ORPHA:20
Adenohypophysitis	Pallor	ORPHA:95512
Congenital Myopathy 22B, Severe Fetal	Pleural effusion, Pulmonary hypoplasia	OMIM:620369
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Pallor	ORPHA:300298
Panhypophysitis	Pallor	ORPHA:95513
Congenital Total Pulmonary Venous Return Anomaly	Mixed total anomalous pulmonary venous connection, Pallor, Pulmonary artery stenosis, Infracardia...	ORPHA:99125
Aregenerative Anemia	Pallor	ORPHA:101096
Beta-Thalassemia Major	Pallor, Skin ulcer	ORPHA:231214
Sheehan Syndrome	Dry skin, Pallor	ORPHA:91355
Meier-Gorlin Syndrome 1	Emphysema, Intrauterine growth retardation, Death in infancy	OMIM:224690
Truncus Arteriosus	Pulmonary artery hypoplasia, Abnormal lung lobation, Intrauterine growth retardation, Anomalous o...	ORPHA:3384
Degcags Syndrome	Pneumonia, Intrauterine growth retardation, Pallor	OMIM:619488
Fryns Syndrome	Pulmonary hypoplasia	ORPHA:2059
Nocardiosis	Pneumonia, Emphysema, Pleural effusion, Pneumothorax, Pleuritis	ORPHA:31204
Pituitary Apoplexy	Pallor	ORPHA:95613
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Pulmonary hypoplasia	OMIM:614080
Hereditary Pheochromocytoma-Paraganglioma	Pallor	ORPHA:29072
Pearson Marrow-Pancreas Syndrome	Erythema, Pallor, Death in childhood	OMIM:557000
Greenberg Dysplasia	Neonatal death, Pulmonary hypoplasia, Stillbirth, Abnormal lung lobation	OMIM:215140
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Pallor	OMIM:194380
Systemic Mastocytosis With Associated Hematologic Neoplasm	Pallor	ORPHA:98849
Fumarase Deficiency	Pallor	OMIM:606812
Atelosteogenesis Type Ii	Pulmonary hypoplasia	ORPHA:56304
Prolactinoma	Pallor	ORPHA:2965
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Pulmonary hypoplasia	OMIM:619351
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Pallor	OMIM:300908
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Pulmonary hypoplasia	OMIM:271520
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Neonatal death, Pulmonary hypoplasia	OMIM:617925
Lethal Congenital Contracture Syndrome 9	Intrauterine growth retardation, Pulmonary hypoplasia	OMIM:616503
Refractory Anemia With Excess Blasts	Anemic pallor	ORPHA:86839
Fontaine Progeroid Syndrome	Premature skin wrinkling, Intrauterine growth retardation, Redundant skin, Death in infancy, Neon...	OMIM:612289
Tarp Syndrome	Intrauterine growth retardation, Pulmonary hypoplasia	ORPHA:2886
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome	Pulmonary hypoplasia	ORPHA:1112
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Pallor	OMIM:277400
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Pulmonary hypoplasia	OMIM:616546
Incontinentia Pigmenti	Erythema, Pallor	OMIM:308300
Alternating Hemiplegia Of Childhood	Pallor	ORPHA:2131
Restrictive Dermopathy 1	Intrauterine growth retardation, Neonatal death, Scaling skin, Stillbirth, Pulmonary hypoplasia	OMIM:275210
Mckusick-Kaufman Syndrome	Pulmonary hypoplasia	OMIM:236700
Acrorenal-Mandibular Syndrome	Intrauterine growth retardation, Pulmonary hypoplasia	OMIM:200980
Otopalatodigital Syndrome Type 2	Pulmonary hypoplasia	ORPHA:90652
Diaphragmatic Hernia 4, With Cardiovascular Defects	Pulmonary artery hypoplasia, Aortopulmonary window, Pulmonary hypoplasia	OMIM:620025
Blomstrand Lethal Chondrodysplasia	Pulmonary hypoplasia	ORPHA:50945
Rajab Interstitial Lung Disease With Brain Calcifications 1	Emphysema, Abnormal pulmonary interstitial morphology, Intrauterine growth retardation	OMIM:613658
Joubert Syndrome 21	Pulmonary hypoplasia	OMIM:615636
Fetal Akinesia Deformation Sequence 1	Intrauterine growth retardation, Stillbirth, Pulmonary hypoplasia	OMIM:208150
Ogden Syndrome	Peripheral pulmonary artery stenosis, Facial wrinkling, Intrauterine growth retardation, Redundan...	OMIM:300855
Marfan Syndrome	Emphysema, Striae distensae, Pneumothorax, Pulmonary artery dilatation	OMIM:154700
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Pulmonary hypoplasia	OMIM:263520
Multiple Pterygium Syndrome, Escobar Variant	Pulmonary hypoplasia	OMIM:265000
Fryns Syndrome	Chylothorax, Stillbirth, Pulmonary hypoplasia	OMIM:229850
Alg9-Cdg	Abnormal lung lobation, Pulmonary hypoplasia	ORPHA:79328
Meier-Gorlin Syndrome 7	Pulmonary hypoplasia	OMIM:617063
Orofaciodigital Syndrome Type 4	Intrauterine growth retardation, Recurrent respiratory infections, Bilateral lung agenesis, Pulmo...	ORPHA:2753
Tetraamelia Syndrome 1	Peripheral pulmonary vessel aplasia, Pulmonary hypoplasia	OMIM:273395
Spondylodysplastic Ehlers-Danlos Syndrome	Cutis laxa, Pulmonary hypoplasia	ORPHA:536471
Neuroblastoma	Anemic pallor	ORPHA:635
Sarcoidosis	Chylothorax, Emphysema, Abnormal pleura morphology, Pleural effusion, Pneumothorax, Abnormal nasa...	ORPHA:797
Fanconi Anemia, Complementation Group C	Intrauterine growth retardation, Anemic pallor	OMIM:227645
Marfan Syndrome	Emphysema, Striae distensae, Spontaneous pneumothorax, Pulmonary artery dilatation	ORPHA:558
Distal Deletion 15Q	Intrauterine growth retardation, Pulmonary hypoplasia	ORPHA:1596
Fabry Disease	Emphysema	ORPHA:324
Neu-Laxova Syndrome 1	Neonatal death, Intrauterine growth retardation, Stillbirth, Pulmonary hypoplasia	OMIM:256520
Diamond-Blackfan Anemia 1	Intrauterine growth retardation, Pallor	OMIM:105650
Restrictive Dermopathy	Dermal translucency, Intrauterine growth retardation, Scaling skin, Pulmonary hypoplasia	ORPHA:1662
Smith-Lemli-Opitz Syndrome	Intrauterine growth retardation, Abnormal lung lobation, Pulmonary hypoplasia	ORPHA:818
Fanconi Anemia, Complementation Group E	Anemic pallor	OMIM:600901
Tsh-Secreting Pituitary Adenoma	Pallor	ORPHA:91347
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Anemic pallor	ORPHA:329971
Fanconi Anemia, Complementation Group A	Anemic pallor	OMIM:227650
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Pulmonary hypoplasia, Intrauterine growth retardation, Redundant neck skin, Pulmonary artery sten...	ORPHA:96334
Dpagt1-Cdg	Pulmonary hypoplasia	ORPHA:86309
Autosomal Recessive Polycystic Kidney Disease	Spontaneous pneumothorax, Recurrent pneumonia, Pulmonary hypoplasia	ORPHA:731
Smith-Lemli-Opitz Syndrome	Intrauterine growth retardation, Abnormal lung lobation, Death in infancy, Pulmonary hypoplasia	OMIM:270400
Penile Agenesis	Bilateral lung agenesis, Pulmonary hypoplasia	ORPHA:49
Diamond-Blackfan Anemia	Pallor	ORPHA:124
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Intrauterine growth retardation, Pulmonary hypoplasia	ORPHA:83617
Fanconi Anemia, Complementation Group D2	Anemic pallor	OMIM:227646
Cardiac-Urogenital Syndrome	Partial anomalous pulmonary venous return, Scimitar anomaly, Pulmonary hypoplasia	OMIM:618280
Meckel Syndrome, Type 1	Intrauterine growth retardation, Pulmonary hypoplasia	OMIM:249000
Von Hippel-Lindau Disease	Pallor	ORPHA:892
Osteogenesis Imperfecta	Intrauterine growth retardation, Cutis laxa, Pulmonary hypoplasia	ORPHA:666
Ulbright-Hodes Syndrome	Pneumothorax, Severe intrauterine growth retardation, Pulmonary hypoplasia	ORPHA:3404
Schinzel-Giedion Syndrome	Recurrent pneumonia, Pulmonary hypoplasia	ORPHA:798
Fraser Syndrome	Pulmonary hypoplasia, Death in infancy, Abnormal lung lobation	ORPHA:2052
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Emphysema, Intrauterine growth retardation, Unilateral lung agenesis	ORPHA:500150
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Pallor	OMIM:253280
Tetrasomy 9P	Intrauterine growth retardation, Pulmonary hypoplasia	ORPHA:3310
Fraser Syndrome 1	Pulmonary hypoplasia	OMIM:219000
Viss Syndrome	Emphysema, Cutis laxa, Pulmonary artery aneurysm, Pneumothorax	OMIM:619472
Proteus Syndrome	Pulmonary cyst, Bronchogenic cyst, Abnormal lung lobation, Pulmonary bulla, Neoplasm of the lung	ORPHA:744
Genitopatellar Syndrome	Pulmonary hypoplasia	OMIM:606170
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Pulmonary hypoplasia	ORPHA:93271
Pallister-Killian Syndrome	Stillbirth, Pulmonary hypoplasia	OMIM:601803
Sotos Syndrome	Pulmonary bleb, Small cell lung carcinoma	ORPHA:821
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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