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Gene: Gskip MGI:1914037

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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:
GSK3B interacting protein
Synonyms:
4933433P14Rik

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 Gskip 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 Gskip by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Perching Syndrome
Respiratory distress, Cyanosis, High palate, Camptodactyly, Joint contracture OMIM:617055
Neuralgic Amyotrophy
Acrocyanosis, Respiratory insufficiency, Cleft palate, Narrow mouth ORPHA:2901
Asbestos Intoxication
Reduced forced vital capacity, Nonproductive cough, Diffuse reticular or finely nodular infiltrat... ORPHA:2302
Bronchopulmonary Dysplasia
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Cough, A... ORPHA:70589
Lethal Congenital Contracture Syndrome 3
Neonatal death, Arthrogryposis multiplex congenita, Multiple joint contractures, Respiratory insu... OMIM:611369
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ... OMIM:610921
Congenital Myopathy 14
Hip contracture, Death in infancy, Apnea, Respiratory insufficiency due to muscle weakness, Flexi... OMIM:618414
Surfactant Metabolism Dysfunction, Pulmonary, 1
Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Ground-glass opacification, Dys... OMIM:265120
Spinal Muscular Atrophy, Type I
Recurrent respiratory infections, Respiratory insufficiency, Respiratory failure, Tongue fascicul... OMIM:253300
Acute Interstitial Pneumonia
Cyanosis, Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Ground-... ORPHA:79126
Ciliary Dyskinesia, Primary, 21
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ... OMIM:615294
Immunodeficiency 95
Respiratory distress, Recurrent respiratory infections, Ground-glass opacification, Respiratory f... OMIM:619773
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Camptodactyly of finger, Respiratory insufficiency, Cleft palate, Restricti... OMIM:614399
Pontocerebellar Hypoplasia, Type 1C
Respiratory insufficiency, Respiratory failure, Tongue fasciculations, Death in childhood, Joint ... OMIM:616081
Autosomal Dominant Hyper-Ige Syndrome
Osteopenia, Recurrent respiratory infections, Delayed eruption of teeth, Osteomyelitis, Recurrent... ORPHA:2314
Hyperekplexia 4
Flexion contracture, Respiratory failure, Distal arthrogryposis, High palate, Camptodactyly OMIM:618011
Mucus Inspissation Of Respiratory Tract
Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr... OMIM:253240
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Dyspnea, Gingival fibromatosis, Gingival overgrowth, Respiratory failure, M... ORPHA:1832
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Respiratory insufficiency due to muscle weakness, Respiratory failure, Flexion contracture, Death... OMIM:300717
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... OMIM:610913
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Crackles, ... OMIM:610978
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Cyanosis, Type II pneumocyte hypertrophy, Desquamative interstitial pneumon... OMIM:263000
Congenital Arthrogryposis With Anterior Horn Cell Disease
Respiratory insufficiency due to muscle weakness, Respiratory failure, High palate, Neonatal deat... OMIM:611890
Recurrent Respiratory Papillomatosis
Respiratory distress, Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract in... ORPHA:60032
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili... OMIM:615872
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Reduced vital capacity, Abnormal respiratory system physiology, Respiratory insufficiency, Limite... ORPHA:266
Infant Acute Respiratory Distress Syndrome
Cyanosis, Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemi... ORPHA:70587
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
Idiopathic Chronic Eosinophilic Pneumonia
Abnormal pulmonary thoracic imaging finding, Crackles, Atelectasis, Hypersensitivity pneumonitis,... ORPHA:2902
Tracheobronchopathia Osteochondroplastica
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... ORPHA:3348
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Central apnea, Death in infancy, Respiratory failure, Respiratory insufficiency OMIM:611722
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Death in infancy, Atelectasis, High palate, Neonatal death, Joint hypermobi... OMIM:300219
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Pallor, Abnormal bone structure ORPHA:46532
Meconium Aspiration Syndrome
Respiratory distress, Abnormal pulmonary thoracic imaging finding, Atelectasis, Neonatal asphyxia... ORPHA:70588
Adducted Thumbs Syndrome
Craniosynostosis, High, narrow palate, Velopharyngeal insufficiency, Cleft palate, Respiratory in... OMIM:201550
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Neonatal respiratory distress, Atelectasis, Dyspnea, Tachypnea, Pulmonary e... OMIM:267450
C1Q Deficiency 2
Atelectasis, Bronchiectasis, Oral ulcer, Facial erythema, Arthritis, Vasculitis in the skin, Recu... OMIM:620321
Primary Pulmonary Hypoplasia
Recurrent respiratory infections, Neonatal respiratory distress, Cyanosis, Apnea, Asthma, Pneumot... ORPHA:2257
Idiopathic Pulmonary Hemosiderosis
Nodular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Ground-glass opacification, Crack... ORPHA:99931
Pneumocystosis
Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Nonproductive cough... ORPHA:723
Intermediate Nemaline Myopathy
Multiple prenatal fractures, High, narrow palate, Flexion contracture, Respiratory failure, Long ... ORPHA:171433
Chronic Pneumonitis Of Infancy
Respiratory distress, Cyanosis, Intercostal retractions, Ground-glass opacification, Reduced forc... ORPHA:91359
Breath-Holding Spells
Cyanosis, Pallor OMIM:607578
Palatopharyngeal Incompetence
Velopharyngeal insufficiency, Cleft palate OMIM:167500
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Death in infancy, Respiratory failure, Apnea, Respiratory insufficiency OMIM:613869
Cryptogenic Organizing Pneumonia
Respiratory distress, Bronchial breath sound, Cyanosis, Crackles, Ground-glass opacification, Non... ORPHA:1302
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood OMIM:302000
Neuropathy, Congenital Hypomyelinating, 3
Limb joint contracture, Flexion contracture, Gingival overgrowth, Narrow palate, Respiratory insu... OMIM:618186
Myopathic Ehlers-Danlos Syndrome
Multiple joint contractures, Foot joint contracture, Shoulder flexion contracture, Ankle flexion ... ORPHA:536516
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Joint laxity, Respiratory failure, Tongue fasciculations OMIM:600561
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Tongue atrophy, Tongue fasciculations, Respiratory failure OMIM:613435
Renal Hypodysplasia/Aplasia 4
Respiratory failure, Pulmonary hypoplasia OMIM:619887
Waardenburg Syndrome Type 3
Tented upper lip vermilion, Camptodactyly of finger, Joint stiffness, Atelectasis, Tracheomalacia... ORPHA:896
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Nemaline Myopathy 8
Death in infancy, Respiratory failure, Flexion contracture OMIM:615348
High Altitude Pulmonary Edema
Orthopnea, Cyanosis, Crackles, Dyspnea, Tachypnea, Hypoxemia, Cough, Pulmonary opacity, Pulmonary... ORPHA:330012
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Atelectasis, Chronic sinusitis, Recurrent bronchitis OMIM:300455
Pulmonary Alveolar Proteinosis, Acquired
Recurrent respiratory infections, Lung abscess, Cyanosis, Pneumonia, Dyspnea, Intraalveolar phosp... OMIM:610910
Glycine Encephalopathy 2
Respiratory failure OMIM:620398
Congenital Velopharyngeal Incompetence
Velopharyngeal insufficiency, Abnormal palate morphology ORPHA:2291
Developmental And Epileptic Encephalopathy 71
Respiratory failure, Cheyne-Stokes respiration, Respiratory insufficiency OMIM:618328
Bronchogenic Cyst
Abnormal pulmonary thoracic imaging finding, Pulmonary cyst, Pneumonia, Abnormal pleura morpholog... ORPHA:2357
Postsynaptic Congenital Myasthenic Syndromes
Orthopnea, Reduced vital capacity, Cyanosis, Restrictive ventilatory defect, Respiratory failure,... ORPHA:98913
Dermatitis, Atopic
Allergic rhinitis, Asthma, Facial erythema, Pallor, Dry skin OMIM:603165
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Dyspnea, Respiratory failure, Aspiration pneu... ORPHA:90117
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Scedosporiosis
Bronchial breath sound, Arthralgia/arthritis, Osteomyelitis, Pneumonia, Bronchitis, Sinusitis, Ab... ORPHA:449280
Phosphoserine Aminotransferase Deficiency
Death in infancy, Cyanotic episode, Apnea OMIM:610992
Acute Myelomonocytic Leukemia
Dyspnea, Abnormality of the gingiva, Pallor ORPHA:517
Familial Nasal Acilia
Respiratory distress, Atelectasis, Dyspnea, Recurrent upper respiratory tract infections, Bronchi... ORPHA:922
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Laryngotracheal Angioma
Respiratory distress, Cyanosis, Intercostal retractions, Apnea, Wheezing, Stridor, Cough ORPHA:137935
Spondylometaphyseal Dysplasia, X-Linked
Hip contracture, Hyperextensibility of the finger joints, Respiratory insufficiency, Knee flexion... OMIM:313420
Vacterl Association With Hydrocephalus
Radial club hand, Respiratory insufficiency, Respiratory failure, Stillbirth, Anal atresia OMIM:276950
Seizures, Benign Familial Infantile, 3
Cyanosis, Apnea OMIM:607745
Butyrylcholinesterase Deficiency
Respiratory failure requiring assisted ventilation, Respiratory failure ORPHA:132
Congenital Muscular Dystrophy With Intellectual Disability
Abnormality of the tongue muscle, Respiratory failure, Multiple joint contractures, Respiratory i... ORPHA:370968
Pontocerebellar Hypoplasia, Type 4
Death in infancy, Congenital contracture, Respiratory failure OMIM:225753
Cleft Velum
Velopharyngeal insufficiency, Cleft soft palate, Aspiration pneumonia ORPHA:99772
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Recurrent respiratory infections, Abnormality of the philtrum, Aplasia/Hypo... ORPHA:2759
Seizures, Benign Familial Infantile, 1
Cyanosis, Apnea OMIM:601764
Primary Ciliary Dyskinesia
Recurrent sinopulmonary infections, Neonatal respiratory distress, Peribronchovascular interstiti... ORPHA:244
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Pneumothorax, Tachypnea, Pulmonary... ORPHA:36238
Congenital Tracheomalacia
Apnea, Tracheobronchomalacia, Cough, Emphysema, Neonatal respiratory distress, Intercostal retrac... ORPHA:95430
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Osteoporosis, Pallor ORPHA:2786
Arthrogryposis Multiplex Congenita 6
Death in infancy, Respiratory failure, Death in childhood, Neonatal death, Arthrogryposis multipl... OMIM:619334
Laryngotracheoesophageal Cleft
Recurrent respiratory infections, Neonatal respiratory distress, Cyanosis, Dyspnea, Stridor, Coug... ORPHA:2004
Multiple Mitochondrial Dysfunctions Syndrome 3
Arthrogryposis multiplex congenita, Respiratory failure, High palate, Respiratory insufficiency OMIM:615330
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Recurrent upper respiratory tract infections, Restrictive ventilatory defect, Interstitial pneumo... OMIM:620296
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Peripheral Cone Dystrophy
Pallor OMIM:609021
Ceroid Lipofuscinosis, Neuronal, 10
Neonatal death, Respiratory failure, Apnea, Respiratory insufficiency OMIM:610127
Omphalocele-Cleft Palate Syndrome, Lethal
Death in infancy, Bifid uvula, Cleft palate OMIM:258320
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Atelectasis, Achilles tendon contracture, Decreased cervical spine flexion due to contractures of... ORPHA:254361
Muscular Dystrophy, Congenital, 1B
Achilles tendon contracture, Respiratory failure OMIM:604801
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Neonatal respiratory distress, Multiple prenatal fractures, Flexion contracture, Respiratory fail... OMIM:616867
Acute Lung Injury
Respiratory distress, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea, Tachypnea, Abnormal pulmon... ORPHA:178320
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia OMIM:619057
Congenital Myopathy 10B, Mild Variant
Elbow contracture, Reduced forced vital capacity, Achilles tendon contracture, Recurrent pneumoni... OMIM:620249
Mucopolysaccharidosis, Type Ix
Submucous cleft hard palate, Synovitis, Hyperextensibility at wrists, Finger joint hypermobility,... OMIM:601492
Pulmonary Capillary Hemangiomatosis
Pulmonary edema, Cyanosis, Diffuse alveolar hemorrhage, Ground-glass opacification, Pulmonary cap... ORPHA:199241
Ciliary Dyskinesia, Primary, 5
Recurrent respiratory infections, Neonatal respiratory distress, Recurrent pneumonia, Bronchiecta... OMIM:608647
Orofaciodigital Syndrome Type 5
Median cleft lip, Aganglionic megacolon, Cleft soft palate, Accessory oral frenulum, Abnormality ... ORPHA:2919
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Respiratory insufficiency due to muscle weakness, Respiratory failure, Flexion contracture, Recur... ORPHA:2590
Congenital Muscular Dystrophy, Ullrich Type
Flexion contracture, Elbow flexion contracture, Hyperextensibility at wrists, Knee flexion contra... ORPHA:75840
Evans Syndrome
Epistaxis, Dyspnea, Jaundice, Pallor, Bruising susceptibility, Petechiae ORPHA:1959
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp... ORPHA:254875
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Thin upper lip vermilion, Crackles, Ground-glass opacification, Atelectasis, Dyspnea, Asthma, Whe... OMIM:620233
Orofacial Cleft 13
Oligodontia, Cleft soft palate OMIM:613857
Avian Influenza
Respiratory distress, Miscarriage, Pneumonia, Ground-glass opacification, Productive cough, Nonpr... ORPHA:454836
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Bifid uvula, Submucous cleft hard palate, Camptodactyly of finger, Cleft palate ORPHA:2521
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Cyanosis ORPHA:91130
Pulmonary Alveolar Microlithiasis
Bronchitis, Nonproductive cough, Tachypnea, Oxygen desaturation on exertion, Respiratory tract in... ORPHA:60025
Cleft Palate, Deafness, And Oligodontia
No permanent dentition, Oligodontia of primary teeth, Cleft soft palate OMIM:216300
Optic Atrophy 1
Pallor OMIM:165500
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Cyanosis, Chronic pulmonary obstruction, Cough, Pulmonary arterial hyperten... ORPHA:2414
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Respiratory distress, Respiratory insufficiency due to muscle weakness, Pallor OMIM:613561
Hepatic Veno-Occlusive Disease
Jaundice, Respiratory failure ORPHA:890
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Death in infancy, Respiratory failure, Apnea OMIM:616277
Acute Peripheral Arterial Occlusion
Pallor ORPHA:90064
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Death in infancy, Neonatal respiratory distress, Respiratory insufficiency, Respiratory failure, ... OMIM:245400
Coffin-Siris Syndrome 11
Cleft soft palate, Esophageal atresia, Downturned corners of mouth, Wide mouth, High palate, Bifi... OMIM:618779
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Vertebral fusion, Elbow contracture, Achilles tendon contracture, Macroglossia, Restrictive venti... OMIM:606612
Cutis Laxa, Autosomal Recessive, Type Ic
Osteopenia, Joint laxity, Death in infancy, Redundant skin, Progeroid facial appearance, Atelecta... OMIM:613177
Plummer-Vinson Syndrome
Tongue atrophy, Intra-oral hyperpigmentation, Cheilitis, Esophageal web, Pallor, Narrow mouth, Gl... ORPHA:54028
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, High, narrow palate, Dyspnea, Wide mouth, Abnormal upper lip morphology, Re... ORPHA:2707
Adult Acute Respiratory Distress Syndrome
Pneumonia, Dyspnea, Pulmonary infiltrates, Hypoxemia, Respiratory failure, Abnormal blood gas lev... ORPHA:70578
X-Linked Sideroblastic Anemia
Dyspnea, Pallor ORPHA:75563
Familial Focal Epilepsy With Variable Foci
Pallor, Flushing ORPHA:98820
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Respiratory distress, Multiple joint contractures, High palate, Microdontia, Repeated... ORPHA:536467
Autoimmune Pulmonary Alveolar Proteinosis
Cyanosis, Crazy paving pattern, Crackles, Dyspnea, Intraalveolar phospholipid accumulation, Hypox... ORPHA:747
Classic Glucose Transporter Type 1 Deficiency Syndrome
Central apnea, Cyanosis ORPHA:71277
Fibrodysplasia Ossificans Progressiva
Progressive cervical vertebral spine fusion, Ectopic ossification in tendon tissue, Ectopic ossif... OMIM:135100
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure OMIM:616794
Primary Lateral Sclerosis, Juvenile
Difficulty in tongue movements, Pallor OMIM:606353
Choanal Atresia
Respiratory distress, Recurrent respiratory infections, Cyanosis, Craniosynostosis, Upper airway ... ORPHA:137914
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Joint laxity, Restrictive ventilatory defect, High palate, Pallor OMIM:600462
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Letterer-Siwe Disease
Dyspnea, Jaundice, Pulmonary infiltrates, Pallor, Stomatitis OMIM:246400
Congenital Heart Block
Pleural effusion, Cyanosis, Pallor, Crackles ORPHA:60041
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Respiratory failure OMIM:618637
Double Outlet Right Ventricle
Cyanosis, Intestinal malrotation, Submucous cleft hard palate, Tachypnea, Cleft palate, Narrow mo... ORPHA:3426
Multiple Epiphyseal Dysplasia, Lowry Type
Fixed elbow flexion, Delayed epiphyseal ossification, Cleft hard palate, Knee flexion contracture ORPHA:166016
Beta-Thalassemia
Skin ulcer, Pallor, Respiratory insufficiency, Reduced bone mineral density ORPHA:848
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Hypoventilation, Protruding tongue, Atelectasis, Flexion contracture, Respiratory insufficiency, ... ORPHA:258
Esophageal Atresia
Respiratory distress, Recurrent respiratory infections, Cyanosis, Barrett esophagus, Intestinal m... ORPHA:1199
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Tented upper lip vermilion, Respiratory failure, Flexion contracture, Narrow palate OMIM:616505
Congenital Multicore Myopathy With External Ophthalmoplegia
Joint laxity, Recurrent respiratory infections, Tented upper lip vermilion, Pneumonia, Flexion co... ORPHA:98905
Amish Lethal Microcephaly
Death in infancy, Cleft soft palate, Limitation of joint mobility, Osteoporosis, Decreased skull ... ORPHA:99742
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Respiratory distress, Death in infancy, Respiratory failure, High palate, Chylothorax, Death in c... OMIM:620278
Chand Syndrome
Atelectasis, Cleft palate, Agenesis of permanent teeth, Dry skin, Abnormal oral frenulum morpholo... ORPHA:1401
Bencze Syndrome
Open bite, Submucous cleft hard palate ORPHA:1241
Van Der Woude Syndrome 1
Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula OMIM:119300
Bifid Uvula
Submucous cleft soft palate, Cleft lip, Bifid uvula ORPHA:99771
Rheumatic Fever
Sinusitis, Epistaxis, Abnormal pleura morphology, Recurrent pharyngitis, Erythema, Respiratory in... ORPHA:3099
Sandestig-Stefanova Syndrome
Respiratory failure, High palate, Orofacial cleft, Camptodactyly OMIM:618804
Cleft Soft Palate
Cleft soft palate OMIM:119570
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Tetrasomy 5P
Respiratory distress, Recurrent respiratory infections, Cyanosis, Redundant neck skin, High palat... ORPHA:3309
Hereditary Methemoglobinemia
Lip discoloration, Cyanosis, Exertional dyspnea ORPHA:621
Congenital Myasthenic Syndrome
Joint laxity, Recurrent respiratory infections, Cyanosis, Sudden episodic apnea, Intermittent epi... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Joint laxity, Recurrent respiratory infections, Cyanosis, Sudden episodic apnea, Intermittent epi... ORPHA:98914
Birk-Barel Syndrome
Reduced subcutaneous adipose tissue, Tented upper lip vermilion, High palate, Short philtrum, Sub... OMIM:612292
Snakebite Envenomation
Epistaxis, Angioedema, Erythema, Respiratory failure, Respiratory paralysis, Gingival bleeding, E... ORPHA:449285
Buerger Disease
Acrocyanosis, Skin ulcer ORPHA:36258
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
Spontaneous Periodic Hypothermia
Pallor, Abnormal pattern of respiration ORPHA:29822
Benign Familial Infantile Epilepsy
Cyanosis, Apnea ORPHA:306
Cleft Lip/Palate
Agenesis of lateral incisor, Bilateral cleft palate, Velopharyngeal insufficiency, Abnormality of... ORPHA:199306
Hemifacial Hyperplasia With Strabismus
Submucous cleft hard palate OMIM:141350
Pontocerebellar Hypoplasia Type 1
Arthrogryposis multiplex congenita, Respiratory failure, Tongue fasciculations, Congenital laryng... ORPHA:2254
Kallmann Syndrome-Heart Disease Syndrome
Osteopenia, Cyanosis, Short lingual frenulum, Midgut malrotation, Osteoporosis, Cleft palate, Pul... ORPHA:2326
Alg1-Cdg
Respiratory failure, Limitation of joint mobility, Protein-losing enteropathy ORPHA:79327
Congenital Myopathy 21 With Early Respiratory Failure
Nocturnal hypoventilation, Dyspnea, Respiratory failure, Lipoid pneumonia OMIM:620326
Deafness-Lymphedema-Leukemia Syndrome
Recurrent respiratory infections, Respiratory failure, Bruising susceptibility, Pallor ORPHA:3226
Isolated Childhood Apraxia Of Speech
High, narrow palate, Submucous cleft hard palate ORPHA:209908
Orofaciodigital Syndrome Xix
Cleft soft palate, Accessory oral frenulum, Carious teeth, Narrow palate, Downturned corners of m... OMIM:620107
Robinow Syndrome, Autosomal Dominant 2
Thin upper lip vermilion, Dental crowding, Cleft soft palate, Abnormality of the dentition, Denta... OMIM:616331
Oculofaciocardiodental Syndrome
Delayed eruption of teeth, Intestinal malrotation, Abnormality of the dentition, Submucous cleft ... ORPHA:2712
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Death in infancy, Camptodactyly of finger, Flexion contracture, Wide mouth, Respiratory failure, ... ORPHA:1194
Waldenström Macroglobulinemia
Cutis marmorata, Epistaxis, Malabsorption, Respiratory insufficiency, Pulmonary infiltrates, Urti... ORPHA:33226
Short-Rib Thoracic Dysplasia 12
Natal tooth, Median cleft lip, Intestinal malrotation, Hamartoma of tongue, Atelectasis, Respirat... OMIM:269860
Pyruvate Dehydrogenase E1-Alpha Deficiency
Long philtrum, Respiratory failure, Apneic episodes precipitated by illness, fatigue, stress OMIM:312170
Hemoglobin D Disease
Pallor ORPHA:90039
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uvula, Unilateral cleft lip, Cleft soft palate, Cleft palate ORPHA:2736
Optic Atrophy 7 With Or Without Auditory Neuropathy
Pallor OMIM:612989
Craniosynostosis 2
Cleft soft palate, Craniosynostosis, Unicoronal synostosis, Supernumerary tooth, Bicoronal synost... OMIM:604757
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Submucous cleft hard palate, Posteriorly placed tongue, Pierre-Robin sequence OMIM:192445
Leishmaniasis
Abnormal oral mucosa morphology, Skin ulcer, Rhinitis, Pallor, Abnormal oral cavity morphology ORPHA:507
Dravet Syndrome
Limited knee extension, Cyanotic episode, Pallor ORPHA:33069
Lethal Acantholytic Erosive Disorder
Natal tooth, Cleft palate, Respiratory failure, Camptodactyly of toe, Fragile skin ORPHA:158687
Congenital Neuronal Ceroid Lipofuscinosis
Neonatal respiratory distress, Apnea, Respiratory failure ORPHA:168486
Goodpasture Syndrome
Cyanosis, Nodular pattern on pulmonary HRCT, Ground-glass opacification, Crackles, Increased DLCO... OMIM:233450
Combined Oxidative Phosphorylation Deficiency 11
Death in infancy, Respiratory failure, Stillbirth, Tongue fasciculations, Death in childhood, Neo... OMIM:614922
Combined Oxidative Phosphorylation Deficiency 52
Death in infancy, Respiratory failure OMIM:619386
Sepsis In Premature Infants
Cyanosis, Abnormal mucociliary clearance, Dyspnea, Jaundice, Nasal flaring, Enterocolitis, Abnorm... ORPHA:90051
Irida Syndrome
Abnormal intestine morphology, Pallor ORPHA:209981
Hereditary Folate Malabsorption
Recurrent respiratory infections, Pallor, Glossitis, Cheilitis ORPHA:90045
Proximal Spinal Muscular Atrophy
Hypoventilation, Neonatal respiratory distress, Multiple joint contractures, Recurrent infections... ORPHA:70
Farber Disease
Respiratory distress, Nodular pattern on pulmonary HRCT, Atelectasis, Flexion contracture, Osteop... ORPHA:333
Arthrogryposis, Distal, Type 3
Decreased hip abduction, Camptodactyly of finger, Submucous cleft hard palate, Cleft palate, Knee... OMIM:114300
Restrictive Dermopathy 2
Respiratory distress, Rectal prolapse, Cyanosis OMIM:619793
Obesity-Hypoventilation Syndrome
Hypoventilation, Cyanosis OMIM:257500
Larsen-Like Syndrome, Lethal Type
Tracheomalacia, Respiratory insufficiency, Pulmonary hypoplasia, Neonatal death OMIM:245650
Laryngeal Abductor Paralysis
Stridor, Cyanosis OMIM:150260
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Multiple Mitochondrial Dysfunctions Syndrome 1
Death in infancy, Respiratory insufficiency, Respiratory failure, Neonatal death, Pulmonary arter... OMIM:605711
Oculocerebrorenal Syndrome Of Lowe
Dental crowding, Deep philtrum, Gingivitis, Periodontitis, Death in infancy, Osteomalacia, Abnorm... ORPHA:534
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Death in infancy, Tachypnea, Respiratory insufficiency, Respiratory failure OMIM:614299
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Camptodactyly of finger, High, narrow palate, Submucous cleft hard palate, Glossoptosis, Hypodontia ORPHA:3201
Myelofibrosis
Myelofibrosis, Pallor, Purpura OMIM:254450
Hyperimmunoglobulinemia D With Periodic Fever
Intestinal obstruction, Limitation of joint mobility, Erythema, Urticaria, Arthritis, Recurrent a... ORPHA:343
Central Hypoventilation Syndrome, Congenital, 3
Respiratory failure, Apnea, Central hypoventilation OMIM:619483
Tricuspid Atresia
Pulmonary artery atresia, Cyanosis ORPHA:1209
Eosinophilic Granulomatosis With Polyangiitis
Intestinal obstruction, Recurrent intrapulmonary hemorrhage, Cutis marmorata, Sinusitis, Abnormal... ORPHA:183
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Respiratory insufficiency due to muscle weakness, Respiratory failure, High... OMIM:220110
Mitochondrial Complex I Deficiency, Nuclear Type 18
Death in infancy, Respiratory failure OMIM:618240
Radio-Renal Syndrome
Respiratory distress, High, narrow palate, Dyspnea, Downturned corners of mouth, Respiratory fail... ORPHA:3015
8Q22.1 Microdeletion Syndrome
Camptodactyly of finger, Craniosynostosis, Abnormality of the dentition, Submucous cleft hard pal... ORPHA:178303
Native American Myopathy
Joint laxity, Cleft palate, Respiratory insufficiency, Downturned corners of mouth, Congenital co... ORPHA:168572
Riddle Syndrome
Conjunctival telangiectasia, Pneumonia, Bronchitis, Neonatal asphyxia, Recurrent pneumonia, Eryth... ORPHA:420741
Amyotrophic Lateral Sclerosis
Dyspnea, Respiratory failure, Xerostomia, Abnormal respiratory system physiology ORPHA:803
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Orthopnea, Respiratory tract infection, Atelectasis, Respiratory insufficie... ORPHA:365
Anemia, Congenital Dyserythropoietic, Type Ib
Jaundice, Pallor OMIM:615631
Congenital Fiber-Type Disproportion Myopathy
Hip contracture, Recurrent respiratory infections, Dental crowding, Ankle flexion contracture, Hy... ORPHA:2020
Robinow Syndrome, Autosomal Recessive 2
Cleft soft palate, Abnormality of the dentition, Gingival overgrowth, Camptodactyly, Triangular m... OMIM:618529
Ciliary Dyskinesia, Primary, 1
Pneumonia, Atelectasis, Bronchiectasis, Immotile cilia, Chronic rhinitis, Ciliary dyskinesia, Chr... OMIM:244400
Niemann-Pick Disease, Type C2
Death in infancy, Neonatal respiratory distress, Jaundice, Respiratory insufficiency, Death in ch... OMIM:607625
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Pallor ORPHA:276608
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory tract infec... ORPHA:308552
Combined Oxidative Phosphorylation Defect Type 23
Stridor, Paroxysmal dyspnea, Respiratory failure, Cyanosis ORPHA:444013
Brachycephaly, Trichomegaly, And Developmental Delay
Supernumerary tooth, Submucous cleft hard palate, Thick lower lip vermilion, Thin vermilion borde... OMIM:617412
Immunodeficiency 54
Recurrent respiratory infections, Respiratory failure, Respiratory insufficiency OMIM:609981
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Joint laxity, Redundant neck skin, Exaggerated cupid's bow, Flexion contracture, Macroglossia, Re... ORPHA:254528
Arterial Tortuosity Syndrome
Respiratory distress, Telangiectasia of the skin, Prematurely aged appearance, Craniosynostosis, ... ORPHA:3342
Beta-Thalassemia Intermedia
Osteopenia, Jaundice, Osteoporosis, Skin ulcer, Increased susceptibility to fractures, Reduced bo... ORPHA:231222
American Trypanosomiasis
Dyspnea, Aganglionic megacolon, Pallor, Cough ORPHA:3386
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Achilles tendon contracture, Respiratory failure, Reduced vital capacity, Nocturnal hypoventilation OMIM:603689
Metatropic Dysplasia
Abnormal enchondral ossification, Flexion contracture, Respiratory insufficiency, Respiratory fai... OMIM:156530
Muscular Dystrophy, Duchenne Type
Hypoventilation, Respiratory insufficiency due to muscle weakness, Achilles tendon contracture, F... OMIM:310200
Kcnq2-Related Epileptic Encephalopathy
Apnea, Pallor, Facial erythema ORPHA:439218
Chromosome 17Q12 Duplication Syndrome
Esophageal atresia, Cleft soft palate, Smooth philtrum OMIM:614526
Tetrasomy 12P
Delayed eruption of teeth, Thin upper lip vermilion, Abnormal soft palate morphology, Downturned ... ORPHA:884
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Death in infancy, Neonatal respiratory distress, Apnea, Elbow flexion contracture, Narrow palate,... OMIM:608836
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Camptodactyly of finger, Tachypnea, Respiratory failure, Inspiratory stridor, Ventilator dependen... OMIM:604320
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Limb joint contracture, Craniosynostosis, Ankle flexion contracture, Knee flexion contracture, Cy... ORPHA:284417
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Central apnea, Respiratory distress, Redundant skin, Respiratory failure, Palmoplantar cutis laxa... OMIM:616482
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Thin upper lip vermilion, Cyanosis, High palate ORPHA:3304
Cleft Larynx, Posterior
Aspiration, Cyanosis OMIM:215800
Loeys-Dietz Syndrome 5
Reduced subcutaneous adipose tissue, Smooth philtrum, Tented upper lip vermilion, Cleft soft pala... OMIM:615582
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis, Joint stiffness ORPHA:2400
Acquired Methemoglobinemia
Hypoxemia, Dyspnea, Cyanosis, Respiratory distress ORPHA:464453
Autosomal Recessive Malignant Osteopetrosis
Delayed eruption of teeth, Recurrent respiratory infections, Apnea, Recurrent fractures, Craniosy... ORPHA:667
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Central apnea, Multiple joint contractures, Respiratory insufficiency due to muscle weakness, Fle... OMIM:618291
Congenital Fibrinogen Deficiency
Cyanosis, Gingival bleeding, Volvulus, Bruising susceptibility, Subcutaneous hemorrhage ORPHA:335
Leigh Syndrome
Respiratory failure, Abnormal pattern of respiration, Respiratory insufficiency OMIM:256000
Buratti-Harel Syndrome
Velopharyngeal insufficiency, Submucous cleft hard palate, Recurrent pneumonia, High palate, Bifi... OMIM:619314
Relapsing Polychondritis
Atelectasis, Dyspnea, Limitation of joint mobility, Erythema, Anteriorly placed anus, Arthritis, ... ORPHA:728
Neuromyelitis Optica Spectrum Disorder
Respiratory failure ORPHA:71211
Mitochondrial Phosphate Carrier Deficiency
Cyanosis, Respiratory insufficiency OMIM:610773
Congenital Tracheal Stenosis
Respiratory distress, Meckel diverticulum, Cyanosis, Abnormal stomach morphology, Neonatal asphyx... ORPHA:141127
Osteopathia Striata-Cranial Sclerosis Syndrome
Delayed eruption of teeth, Increased bone mineral density, High, narrow palate, Submucous cleft h... ORPHA:2780
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Submucous cleft hard palate, Bifid uvula OMIM:619239
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Respiratory failure ORPHA:70472
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Respiratory failure ORPHA:363400
Microcephaly 30, Primary, Autosomal Recessive
Thin upper lip vermilion, Pierre-Robin sequence, Cleft soft palate OMIM:620183
Benign Familial Neonatal Epilepsy
Circumoral cyanosis, Apnea ORPHA:1949
Intellectual Developmental Disorder, Autosomal Dominant 58
Dental crowding, Protruding tongue, Submucous cleft hard palate, Wide mouth, High palate, Thick v... OMIM:618106
Cyclic Vomiting Syndrome
Pallor OMIM:500007
Hypoadrenocorticism, Familial
Cyanosis, Apnea OMIM:240200
Ear-Patella-Short Stature Syndrome
Respiratory distress, Camptodactyly of finger, Craniosynostosis, High, narrow palate, Dyspnea, Su... ORPHA:2554
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Rickets, Pallor OMIM:611590
Tibial Muscular Dystrophy
Respiratory failure ORPHA:609
Autoimmune Hemolytic Anemia, Warm Type
Jaundice, Pallor, Exertional dyspnea ORPHA:90033
Cleft Palate With Or Without Ankyloglossia, X-Linked
Ankyloglossia, Bifid uvula, Cleft palate OMIM:303400
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Respiratory failure, Pulmonary hypoplasia, Long philtrum OMIM:617895
Lujo Hemorrhagic Fever
Respiratory distress, Stiff neck, Crackles, Atelectasis, Nonproductive cough, Rhinitis, Ecchymosi... ORPHA:319213
Thiamine-Responsive Megaloblastic Anemia Syndrome
Pallor ORPHA:49827
Pulmonary Arteriovenous Malformation
Cyanosis, Epistaxis, Dyspnea, Hemothorax, Telangiectasia, Hypoxemia, Pleural empyema, Cough, Pulm... ORPHA:2038
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Respiratory insufficiency due to muscle weakness, Dyspnea, Respiratory failure ORPHA:352447
Myasthenic Syndrome, Congenital, 21, Presynaptic
Cyanosis, Apnea, Meconium ileus, Respiratory insufficiency, Knee flexion contracture OMIM:617239
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Thin upper lip vermilion, Cutis marmorata, Intestinal malrotation, Velopharyngeal insufficiency, ... OMIM:614701
Whim Syndrome
Abnormal small intestine morphology, Sinusitis, Severe periodontitis, Pneumonia, Respiratory trac... ORPHA:51636
Hyperinsulinism Due To Ucp2 Deficiency
Pallor ORPHA:276556
Cerebrocostomandibular Syndrome
Anal stenosis, Neonatal respiratory distress, Calcaneal epiphyseal stippling, Cleft soft palate, ... OMIM:117650
Peroxisome Biogenesis Disorder 4A (Zellweger)
Epiphyseal stippling, Respiratory failure, Death in infancy OMIM:614862
Non-Functioning Paraganglioma
Pallor, Flushing ORPHA:94080
Severe Congenital Nemaline Myopathy
Multiple prenatal fractures, Flexion contracture, Respiratory failure, Pulmonary hypoplasia, Arth... ORPHA:171430
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Jaundice, Pallor OMIM:613839
Zygomycosis
Sinusitis, Gastritis, Epistaxis, Atelectasis, Pneumothorax, Osteolysis, Enterocolitis, Pulmonary ... ORPHA:73263
Retinitis Pigmentosa 51
Pallor OMIM:613464
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Pallor ORPHA:276575
Idiopathic Hypereosinophilic Syndrome
Myelofibrosis, Respiratory distress, Cutis marmorata, Malabsorption, Pulmonary embolism, Dyspnea,... ORPHA:3260
Rajab Interstitial Lung Disease With Brain Calcifications 1
Osteopenia, Joint laxity, Intestinal malrotation, Tachypnea, Rickets, Abnormal pulmonary intersti... OMIM:613658
Neu-Laxova Syndrome
Osteopenia, Abnormality of the philtrum, Osteomalacia, Flexion contracture, Osteoporosis, Rickets... ORPHA:2671
Drug-Induced Autoimmune Hemolytic Anemia
Pallor, Exertional dyspnea ORPHA:90037
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Pallor ORPHA:276580
Hyperinsulinism Due To Hnf1A Deficiency
Pallor ORPHA:324575
Histiocytoid Cardiomyopathy
Cyanosis, Tachypnea, Cleft palate, Pallor, Cough, Pulmonary edema ORPHA:137675
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Cyanosis, Exertional dyspnea OMIM:250800
1Q41Q42 Microdeletion Syndrome
Submucous cleft hard palate, Thick vermilion border, Pulmonary hypoplasia, Cleft palate ORPHA:250999
Mitochondrial Complex I Deficiency, Nuclear Type 10
Respiratory failure, Apnea, Central hypoventilation OMIM:618233
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Respiratory failure, Tachypnea, Death in childhood OMIM:615838
Rhizomelic Chondrodysplasia Punctata, Type 2
Osteopenia, Submucous cleft hard palate, Flexion contracture, Epiphyseal stippling, High palate OMIM:222765
Triosephosphate Isomerase Deficiency
Respiratory distress, Death in infancy, Respiratory insufficiency due to muscle weakness, Jaundic... OMIM:615512
Stickler Syndrome, Type I
Joint stiffness, Osteoarthritis, Submucous cleft hard palate, Pierre-Robin sequence, Cleft palate... OMIM:108300
Myopathy, Mitochondrial, And Ataxia
High palate, Pallor OMIM:617675
Encephalopathy, Ethylmalonic
Death in infancy, Acrocyanosis, Petechiae OMIM:602473
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Respiratory failure OMIM:613954
Nephronophthisis 2
Respiratory failure, Pulmonary hypoplasia, Respiratory insufficiency OMIM:602088
Car T Cell Therapy-Associated Cytokine Release Syndrome
Tachypnea, Hypoxemia, Respiratory failure, Pleural effusion, Pulmonary edema ORPHA:542323
Combined Oxidative Phosphorylation Deficiency 4
Death in infancy, Respiratory failure OMIM:610678
Osteopetrosis, Autosomal Recessive 5
Increased bone mineral density, Cranial hyperostosis, Gingival overgrowth, Respiratory failure, S... OMIM:259720
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Thick lower lip vermilion, Acrocyanosis, Joint contracture of the 5th finger, Long philtrum OMIM:614407
Hydrolethalus
Submucous cleft hard palate, Gingival cleft, Cleft palate, Unilateral cleft lip, Bifid uvula ORPHA:2189
Ciliary Dyskinesia, Primary, 20
Recurrent respiratory infections, Productive cough, Atelectasis, Pulmonary artery stenosis, Recur... OMIM:615067
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Recurrent respiratory infections, Cleft soft palate, Hypoxemia, Submucous cleft soft palate, Pulm... ORPHA:2282
Tarp Syndrome
Cyanosis, Apnea, Pierre-Robin sequence, Alveolar ridge overgrowth, Cleft palate, Glossoptosis, Pu... ORPHA:2886
Vertebral Hypersegmentation And Orofacial Anomalies
Unilateral cleft palate, Submucous cleft hard palate, Unilateral cleft lip, Joint hypermobility OMIM:619122
Lenz-Majewski Hyperostotic Dwarfism
Increased bone mineral density, Prematurely aged appearance, Abnormal dental enamel morphology, R... ORPHA:2658
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Apneic episodes... ORPHA:348
Mixed-Type Autoimmune Hemolytic Anemia
Pallor, Exertional dyspnea ORPHA:90036
Congenital Tricuspid Valve Dysplasia
Respiratory failure requiring assisted ventilation, Cyanosis, Tachypnea, Anomalous pulmonary veno... ORPHA:555874
Hutchinson-Gilford Progeria Syndrome
Prominent superficial blood vessels, Dental crowding, Short lingual frenulum, Osteoarthritis, Red... ORPHA:740
W Syndrome
Submucous cleft hard palate, Agenesis of maxillary central incisor, Camptodactyly, Broad uvula, U... ORPHA:2804
Granulomatous Disease, Chronic, X-Linked
Osteomyelitis, Atelectasis, Recurrent pneumonia, Air bronchogram, Rectal abscess, Cough, Pleural ... OMIM:306400
Dominant Beta-Thalassemia
Abnormality of the dentition, Dyspnea, Jaundice, Osteoporosis, Skin ulcer, Pallor ORPHA:231226
Primary Myelofibrosis
Ecchymosis, Pallor, Petechiae, Purpura ORPHA:824
Branchiogenic-Deafness Syndrome
Branchial cyst, Branchial fistula, Submucous cleft hard palate OMIM:609166
Lymphangioleiomyomatosis
Recurrent respiratory infections, Atelectasis, Dyspnea, Pneumothorax, Pulmonary infiltrates, Rest... ORPHA:538
Orofaciodigital Syndrome Type 10
Tarsal synostosis, Accessory oral frenulum, Cleft soft palate, Long philtrum, Metatarsal synostosis ORPHA:2756
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cyanosis, Apnea, Protruding tongue OMIM:619580
Geleophysic Dysplasia 3
Pneumonia, Limited elbow movement, Limited wrist movement, Dyspnea, Respiratory failure, Thick ve... OMIM:617809
Dermatomyositis
Recurrent respiratory infections, Telangiectasia of the skin, Gastrointestinal stroma tumor, Eryt... ORPHA:221
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Pallor, Death in childhood OMIM:246450
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Recurrent respiratory infections, Atelectasis, Tachypnea, Respiratory insufficiency, Respiratory ... OMIM:618278
Orofaciodigital Syndrome Type 2
Natal tooth, Median cleft lip, Apnea, Hamartoma of tongue, Unilateral alveolar cleft of maxilla, ... ORPHA:2751
Nijmegen Breakage Syndrome
Recurrent sinopulmonary infections, Recurrent respiratory infections, Anal stenosis, Deep philtru... ORPHA:647
Glycine Encephalopathy With Normal Serum Glycine
Joint laxity, Hip contracture, Apnea, Flexion contracture, Elbow flexion contracture, Respiratory... OMIM:617301
22Q11.2 Deletion Syndrome
Aganglionic megacolon, Intestinal malrotation, Abnormal dental enamel morphology, Abnormality of ... ORPHA:567
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Reduced subcutaneous adipose tissue, Recurrent respiratory infections, Eclabion, Smooth philtrum,... OMIM:619950
Spinocerebellar Ataxia Type 1
Respiratory failure ORPHA:98755
Boutonneuse Fever
Respiratory failure, Petechiae ORPHA:83313
Peripartum Cardiomyopathy
Orthopnea, Crackles, Dyspnea, Asthma, Respiratory failure, Paroxysmal dyspnea, Pulmonary arterial... ORPHA:563
Chromosome 6Q24-Q25 Deletion Syndrome
Respiratory distress, Thin upper lip vermilion, High, narrow palate, Submucous cleft hard palate,... OMIM:612863
Tay-Sachs Disease
Aspiration, Pallor OMIM:272800
Systemic Mastocytosis With Associated Hematologic Neoplasm
Peptic ulcer, Osteoporosis, Increased susceptibility to fractures, Urticaria, Pallor, Flushing ORPHA:98849
Lethal Congenital Contracture Syndrome 2
Arthrogryposis multiplex congenita, Respiratory failure OMIM:607598
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Hypopnea,... OMIM:618426
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Hip contracture, Death in infancy, Flexion contracture, Elbow flexion contracture, Gingival overg... OMIM:300868
Schilbach-Rott Syndrome
Submucous cleft hard palate, Bifid uvula, Narrow mouth OMIM:164220
Hereditary Angioedema Type 1
Respiratory distress, Tongue edema, Intestinal edema, Abnormal soft palate morphology, Dyspnea, U... ORPHA:100050
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory distress, Respiratory failure OMIM:620166
Imerslund-Gräsbeck Syndrome
Pallor, Glossitis, Angular cheilitis ORPHA:35858
Brain-Lung-Thyroid Syndrome
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Asthma, Re... ORPHA:209905
Elliptocytosis 1
Jaundice, Pallor OMIM:611804
Malignant Atrophic Papulosis
Intestinal fistula, Telangiectasia of the skin, Intestinal perforation, Respiratory failure, Pleu... ORPHA:679
Beta-Thalassemia Major
Abnormality of the dentition, Dyspnea, Jaundice, Osteoporosis, Skin ulcer, Pallor ORPHA:231214
Hereditary Motor And Sensory Neuropathy, Type Iic
Stridor, Respiratory failure, Intercostal muscle weakness OMIM:606071
Mercury Poisoning
Respiratory distress, Dyspnea, Interstitial pneumonitis, Respiratory failure ORPHA:330021
Cree Mental Retardation Syndrome
Cleft soft palate OMIM:606851
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Respiratory failure requiring assisted ventilation, Fractures of the long bones, Recurrent pneumo... ORPHA:496641
Congenitally Uncorrected Transposition Of The Great Arteries
Hypoxemia, Cyanosis, Tachypnea, Anomalous pulmonary venous return ORPHA:860
Fumarase Deficiency
Reduced subcutaneous adipose tissue, Necrotizing enterocolitis, High palate, Pallor OMIM:606812
Chiari Malformation Type Ii
Cyanosis, Inspiratory stridor OMIM:207950
Meckel Syndrome 14
Cyanosis, Pneumothorax, Cardiorespiratory arrest, Decreased calvarial ossification, Pulmonary hyp... OMIM:619879
Bloom Syndrome
Pneumonia, Bronchitis, Respiratory tract infection, Esophageal neoplasm, Chronic pulmonary obstru... ORPHA:125
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Hypophosphatemic rickets, Pallor ORPHA:263455
Aicardi-Goutieres Syndrome 1
Erythema, Multiple gastric polyps, Prolonged neonatal jaundice, Acrocyanosis, Petechiae, Purpura OMIM:225750
Desmosterolosis
Increased bone mineral density, Intestinal malrotation, Submucous cleft hard palate, Anomalous pu... ORPHA:35107
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Conical tooth, Non-midline cleft li... ORPHA:1071
Hb Bart'S Hydrops Fetalis
Pallor ORPHA:163596
Limb-Mammary Syndrome
Cleft hard palate, Cleft lip, Cleft palate, Hypodontia, Submucous cleft soft palate, Dry skin, Bi... ORPHA:69085
Hsd10 Disease, Infantile Type
Cyanosis ORPHA:391428
Absence Of The Pulmonary Artery
Recurrent respiratory infections, Abnormal pulmonary thoracic imaging finding, Cyanosis, Orthopne... ORPHA:980
Dubowitz Syndrome
Delayed eruption of teeth, Anal stenosis, Cutis marmorata, Craniosynostosis, Malabsorption, Abnor... ORPHA:235
Hereditary Spherocytosis
Jaundice, Skin ulcer, Pallor, Gout ORPHA:822
3-Methylglutaconic Aciduria, Type Viii
Death in infancy, Apnea, Jaundice, Hypopnea, Respiratory failure, Neonatal death, Respiratory arrest OMIM:617248
Complete Atrioventricular Septal Defect
Cyanosis, Intercostal retractions, Crackles, Wheezing, Recurrent pneumonia, Tachypnea, Elevated p... ORPHA:1329
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Osteopenia, Bruising susceptibility, Cleft soft palate, Cutis laxa OMIM:614557
Fanconi Anemia, Complementation Group I
Fused cervical vertebrae, Pallor OMIM:609053
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Cyanosis, Apnea OMIM:261680
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Small intestinal polyposis, Duodenal polyposis, Anemic pallor, Rectal polyposis, Adenomatous colo... ORPHA:329971
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Submucous cleft hard palate, Thick lower lip vermilion, Wide mouth, Unilateral cleft lip, Unilate... OMIM:619103
Poems Syndrome
Sclerosis of hand bone, Sclerosis of foot bone, Respiratory insufficiency due to muscle weakness,... ORPHA:2905
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Osteopenia, Abnormally ossified vertebrae, Osteomalacia, Dyspnea, Submucous cleft hard palate, Os... ORPHA:2636
Acquired Idiopathic Sideroblastic Anemia
Pallor ORPHA:75564
Aregenerative Anemia
Dyspnea, Bruising susceptibility, Pallor ORPHA:101096
Ethylmalonic Encephalopathy
Acrocyanosis, Petechiae ORPHA:51188
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Delayed eruption of teeth, Thin upper lip vermilion, Dental crowding, Cleft hard palate, Submucou... OMIM:300990
Atrial Septal Defect, Ostium Primum Type
Recurrent respiratory infections, Cyanosis, Dyspnea, Tachypnea, Abnormal respiratory system physi... ORPHA:99106
Carnitine-Acylcarnitine Translocase Deficiency
Cyanosis, Sudden episodic apnea, Respiratory insufficiency ORPHA:159
Childhood Absence Epilepsy
Pallor, Hyperventilation ORPHA:64280
Acquired Purpura Fulminans
Acrocyanosis, Pyoderma gangrenosum, Macular purpura ORPHA:49566
Alternating Hemiplegia Of Childhood
Respiratory distress, Apnea, Exaggerated cupid's bow, Downturned corners of mouth, Pallor, Aspira... ORPHA:2131
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Respiratory failure, Death in childhood OMIM:619847
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Tongue telangiectasia, Gastrointestinal arteriovenous malformation, ... OMIM:187300
Spondylometaphyseal Dysplasia, Schmidt Type
Cleft soft palate ORPHA:93316
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Short philtrum, Cleft soft palate, Smooth philtrum ORPHA:293725
Multiple Acyl-Coa Dehydrogenase Deficiency
Dyspnea, Restrictive ventilatory defect, Respiratory failure, Cardiorespiratory arrest ORPHA:26791
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Pulmonary arterial hypertension, Respiratory failure, Respiratory insufficiency OMIM:613845
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Bradypnea, Respiratory failure, Death in childhood OMIM:617186
Pyruvate Kinase Deficiency Of Red Cells
Jaundice, Pallor OMIM:266200
Degcags Syndrome
Osteopenia, Smooth philtrum, Jejunal atresia, Pneumonia, Craniosynostosis, Protruding tongue, Hia... OMIM:619488
Isolated Right Ventricular Hypoplasia
Hypoxemia, Dyspnea, Cyanosis ORPHA:439
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Exaggerated median tongue furrow, Tented upper lip vermilion, Exaggerated cupid's bow, Long upper... OMIM:608670
Ethylene Glycol Poisoning
Cyanosis, Gastritis, Tachypnea, Episodic respiratory distress, Abnormal pattern of respiration, P... ORPHA:31826
Cold Agglutinin Disease
Pallor ORPHA:56425
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Respiratory failure, Osteopetrosis ORPHA:3240
Incontinentia Pigmenti
Delayed eruption of teeth, Conical tooth, Erythema, Oligodontia, Hypodontia, Pallor OMIM:308300
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, Cyanosis, Apnea, Macroglossia, Pleural effusion, Pulmonary edema OMIM:261740
Myhre Syndrome
Vertebral fusion, Thin upper lip vermilion, Joint stiffness, Cleft lip, Narrow mouth, Limitation ... OMIM:139210
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor ORPHA:13
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Jaundice, Pallor, Prolonged neonatal jaundice OMIM:300908
Multiple Endocrine Neoplasia Type 2
Joint laxity, Reduced subcutaneous adipose tissue, Aganglionic megacolon, Abnormal tongue morphol... ORPHA:653
Infection-Related Hemolytic Uremic Syndrome
Pneumonia, Respiratory tract infection, Intestinal perforation, Dyspnea, Pleural empyema, Pallor,... ORPHA:544482
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hyperextensibility of the finger joints, Apnea, Dental crowding, Deep philtrum, Flexion contractu... OMIM:619503
Poliomyelitis
Paralytic ileus, Respiratory failure requiring assisted ventilation, Respiratory failure, Stiff neck ORPHA:2912
Pitt-Hopkins Syndrome
Aganglionic megacolon, Hiatus hernia, Wide mouth, Short philtrum, Thick vermilion border, Esophag... ORPHA:2896
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Erosion of oral mucosa, Pneumonia, Abnormal oral mucosa morphology, Dyspnea... ORPHA:79404
Myhre Syndrome
Craniofacial hyperostosis, Joint stiffness, Submucous cleft hard palate, Cleft palate, Gingival c... ORPHA:2588
Beta-Ketothiolase Deficiency
Tachypnea, Pallor, Cough ORPHA:134
Anemia, Hypochromic Microcytic, With Iron Overload 2
Pallor OMIM:615234
Hardikar Syndrome
Cleft soft palate, Intestinal malrotation, Celiac disease, Pulmonary artery stenosis, Partial ano... OMIM:301068
Velocardiofacial Syndrome
Velopharyngeal insufficiency, Submucous cleft hard palate, Pierre-Robin sequence, Cleft palate, U... OMIM:192430
3-Hydroxy-3-Methylglutaric Aciduria
Jaundice, Tachypnea, Apnea, Pallor ORPHA:20
Congenital Dyserythropoietic Anemia Type Iii
Pallor, Gingival bleeding ORPHA:98870
Costello Syndrome
Hyperextensibility of the finger joints, Redundant neck skin, Limited elbow movement, Pyloric ste... OMIM:218040
Criss-Cross Heart
Cyanosis, Respiratory insufficiency ORPHA:1461
Orofaciodigital Syndrome Type 4
Recurrent respiratory infections, Median cleft lip, Camptodactyly of finger, Abnormal oral mucosa... ORPHA:2753
Hereditary Bullous Dystrophy, Macular Type
Acrocyanosis, Pneumonia ORPHA:1867
3-Methylglutaconic Aciduria Type 7
Respiratory failure, Pneumothorax ORPHA:445038
Eosinophilic Fasciitis
Arthritis, Acrocyanosis ORPHA:3165
Marbach-Schaaf Neurodevelopmental Syndrome
Downturned corners of mouth, Thin upper lip vermilion, Submucous cleft hard palate OMIM:619680
Branchioskeletogenital Syndrome
Craniosynostosis, Abnormality of the dentition, Carious teeth, Submucous cleft hard palate, Prema... ORPHA:1299
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Tented upper lip vermilion, Miscarriage, Interphalangeal joint contracture of finger, Redundant n... ORPHA:96334
Retinitis Pigmentosa 75
Pallor OMIM:617023
Atrial Septal Defect, Ostium Secundum Type
Orthopnea, Cyanosis, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance,... ORPHA:99103
S-Adenosylhomocysteine Hydrolase Deficiency
Respiratory failure, Abnormality of the dentition ORPHA:88618
Pearson Marrow-Pancreas Syndrome
Villous atrophy, Malabsorption, Erythema, Steatorrhea, Pallor, Death in childhood OMIM:557000
Restrictive Dermopathy 1
Natal tooth, Prominent superficial blood vessels, Limb joint contracture, Ankylosis, Flexion cont... OMIM:275210
Atrial Septal Defect, Coronary Sinus Type
Cyanosis, Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Anomalous pulmonary venous... ORPHA:99104
Heterotaxy, Visceral, 7, Autosomal
Cyanosis, Intestinal malrotation, Pulmonary artery hypoplasia, Total anomalous pulmonary venous r... OMIM:616749
Sporadic Pheochromocytoma/Secreting Paraganglioma
Pallor, Flushing ORPHA:276621
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Pulmonary arteriovenous ... OMIM:610655
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Thin upper lip vermilion, Pyloric stenosis, Submucous cleft hard palate, High palate, Contracture... ORPHA:457279
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory failure ORPHA:1861
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Esophageal atresia, Submucous cleft hard palate, Tracheoesophageal fistula, Fused cervical verteb... OMIM:619227
Digeorge Syndrome
Atelectasis, High, narrow palate, Recurrent pneumonia, Chronic pulmonary obstruction, Asthma, Cle... OMIM:188400
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Respiratory failure, Limb joint contracture OMIM:620327
Mitochondrial Complex I Deficiency, Nuclear Type 1
Death in infancy, Cyanosis, Apnea, Respiratory insufficiency, Respiratory failure, Tongue fascicu... OMIM:252010
Anemia, Sideroblastic, 1
Anemic pallor OMIM:300751
Nocardiosis
Respiratory distress, Osteomyelitis, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, P... ORPHA:31204
Campomelic Dysplasia
Joint laxity, Poorly ossified cervical vertebrae, Respiratory distress, Absent sternal ossificati... OMIM:114290
Mitochondrial Trifunctional Protein Deficiency 1
Respiratory failure, Respiratory insufficiency OMIM:609015
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Jaundice, Pallor OMIM:194380
Viss Syndrome
Chronic gastritis, Prominent superficial blood vessels, High, narrow palate, Generalized joint la... OMIM:619472
Cone-Rod Dystrophy 8
Pallor OMIM:605549
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Recurrent respiratory infections, Cyanosis, Aortopulmonary window, Pulmonary hypoplasia, Pulmonar... ORPHA:99050
Infantile Krabbe Disease
Respiratory distress, Respiratory failure ORPHA:206436
Cardiofaciocutaneous Syndrome 1
Osteopenia, Hyperextensibility of the finger joints, Abnormality of the dentition, Open bite, Dee... OMIM:115150
Methemoglobinemia And Ambiguous Genitalia
Cyanosis OMIM:250790
Prolactinoma
Osteopenia, Osteoporosis, Pallor ORPHA:2965
Combined Oxidative Phosphorylation Deficiency 3
Death in infancy, Dyspnea, Respiratory insufficiency, Respiratory failure, Death in childhood OMIM:610505
Walker-Warburg Syndrome
Submucous cleft hard palate, Bifid uvula, Cleft palate ORPHA:899
Double Outlet Left Ventricle
Pulmonary artery stenosis, Cyanosis, Tachypnea, Orofacial cleft ORPHA:3427
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Nail bed telangiectasia,... OMIM:600376
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Submucous cleft hard palate, Bifid uvula OMIM:617660
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Smooth philtrum, Unilateral lung agenesis, Sagittal craniosynostosis, Submucous cleft soft palate... ORPHA:500150
Listeriosis
Respiratory distress, Stiff neck, Osteomyelitis, Pneumonia, Miscarriage, Jaundice, Respiratory fa... ORPHA:533
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Pneumonia, Epistaxis, Dyspnea, Respiratory failure, Cough, Ecchymosis, Pleu... ORPHA:340
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Recurrent upper and lower respiratory tract infections, Pallor ORPHA:331206
Diamond-Blackfan Anemia
Cleft soft palate, Cleft lip, High palate, Pallor, Adenocarcinoma of the colon ORPHA:124
Senior-Loken Syndrome 8
Pallor OMIM:616307
Leigh Syndrome
Respiratory failure, Multiple joint contractures, Abnormal pattern of respiration ORPHA:506
Cardiofaciocutaneous Syndrome
Redundant skin, Submucous cleft hard palate, Excessive wrinkled skin, High palate, Long philtrum,... ORPHA:1340
Mitochondrial Trifunctional Protein Deficiency
Respiratory failure, Respiratory insufficiency ORPHA:746
Coffin-Lowry Syndrome
Hyperextensibility of the finger joints, Cutis marmorata, Rectal prolapse, Thick lower lip vermil... OMIM:303600
Bickerstaff Brainstem Encephalitis
Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Respiratory tract inf... ORPHA:79138
Fraser Syndrome 2
Intestinal malrotation, Rectal atresia, Respiratory failure, Narrow mouth, Anal atresia OMIM:617666
Diamond-Blackfan Anemia 1
Cleft upper lip, Cleft palate, Colon cancer, High palate, Pallor OMIM:105650
Refractory Anemia With Excess Blasts
Anemic pallor, Exertional dyspnea ORPHA:86839
Treacher Collins Syndrome 1
Cleft soft palate, Cleft palate, Wide mouth, Abnormal parotid gland morphology, Narrow mouth OMIM:154500
Pelizaeus-Merzbacher Disease, Connatal Form
Respiratory failure ORPHA:280210
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Submucous cleft hard palate, Cleft palate, Failure of eruption of permanent teeth, Tooth malposit... ORPHA:2250
Combined Oxidative Phosphorylation Deficiency 37
Respiratory failure, Respiratory insufficiency OMIM:618329
Hereditary Pheochromocytoma-Paraganglioma
Pallor, Flushing ORPHA:29072
Congenital Total Pulmonary Venous Return Anomaly
Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve... ORPHA:99125
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Recurrent infections due to aspiration, Decreased sensitivity to hypoxemia, Acrocyanosis, Hypogeusia OMIM:223900
Ulbright-Hodes Syndrome
Respiratory distress, Pneumothorax, Humeroradial synostosis, Respiratory failure, Thin vermilion ... ORPHA:3404
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hypoventilation, Cyanosis, Central hypoventilation, Celiac disease, Asthma, Recurrent upper respi... ORPHA:293987
Meier-Gorlin Syndrome 5
Submucous cleft hard palate, Thick vermilion border, Long philtrum OMIM:613805
Abetalipoproteinemia
Osteopenia, Fat malabsorption, Respiratory failure, Steatorrhea ORPHA:14
Familial Dysautonomia
Recurrent respiratory infections, Recurrent fractures, Abnormal pleura morphology, Osteolysis, Ac... ORPHA:1764
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cyanosis ORPHA:488627
Structural Heart Defects And Renal Anomalies Syndrome
Death in infancy, Partial anomalous pulmonary venous return, Cyanosis OMIM:617478
Heterotaxy, Visceral, 1, X-Linked
Respiratory distress, Bilateral trilobed lung, Cyanosis, Block vertebrae, Posteriorly placed anus... OMIM:306955
Non-Functioning Pituitary Adenoma
Pallor ORPHA:91349
Fucosidosis
Acrocyanosis, Vascular skin abnormality, Abnormality of the dentition ORPHA:349
Autosomal Recessive Polycystic Kidney Disease
Hypoventilation, Spontaneous pneumothorax, Jaundice, Recurrent pneumonia, Esophageal varix, Respi... ORPHA:731
Otopalatodigital Syndrome, Type Ii
Elbow contracture, Cleft palate, Respiratory insufficiency, Sclerosis of skull base, Stillbirth, ... OMIM:304120
Myasthenia Gravis
Dyspnea, Acrocyanosis, Rheumatoid arthritis ORPHA:589
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Joint laxity, Dental crowding, High, narrow palate, Narrow mouth, Wide mouth, Short philtrum, Wid... OMIM:300967
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Intestinal malrotation, Cleft soft palate, Flexion contracture, Downturned corners of mouth, Smoo... OMIM:619321
Zttk Syndrome
Unilateral lung agenesis, Craniosynostosis, Abnormality of the dentition, Flexion contracture, Su... OMIM:617140
Adenohypophysitis
Pallor ORPHA:95512
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Pallor ORPHA:300298
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Hip contracture, Thin upper lip vermilion, Deep philtrum, Submucous cleft hard palate, Elbow flex... OMIM:619194
Panhypophysitis
Pallor ORPHA:95513
Marden-Walker Syndrome
Camptodactyly of finger, Joint stiffness, Pyloric stenosis, Submucous cleft hard palate, Cleft pa... ORPHA:2461
Sheehan Syndrome
Dry skin, Pallor ORPHA:91355
Joubert Syndrome 21
Apnea, Dyspnea, Respiratory failure, Pulmonary hypoplasia, Chronic sinusitis OMIM:615636
Microphthalmia With Linear Skin Defects Syndrome
Respiratory distress, Abnormal dental enamel morphology, Dyspnea, Erythema, Respiratory failure, ... ORPHA:2556
Pituitary Apoplexy
Pallor ORPHA:95613
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Respiratory failure OMIM:616538
Primary Hyperoxaluria
Cutis marmorata, Recurrent fractures, Abnormality of the dentition, Generalized osteosclerosis, R... ORPHA:416
Dubowitz Syndrome
Delayed eruption of teeth, Carious teeth, Velopharyngeal insufficiency, Submucous cleft hard pala... OMIM:223370
Restrictive Dermopathy
Osteopenia, Natal tooth, Multiple joint contractures, Camptodactyly of finger, Submucous cleft ha... ORPHA:1662
Hypermobile Ehlers-Danlos Syndrome
Apnea, Malabsorption, Abnormality of the dentition, Osteoarthritis, Limitation of joint mobility,... ORPHA:285
Holoprosencephaly 13, X-Linked
Median cleft lip, Submucous cleft hard palate, Cleft palate, Solitary median maxillary central in... OMIM:301043
Unilateral Polymicrogyria
Cyanosis, Apnea, Epistaxis, Pulmonary arteriovenous malformation ORPHA:268943
Steinert Myotonic Dystrophy
Respiratory failure requiring assisted ventilation, Tented upper lip vermilion, Intestinal pseudo... ORPHA:273
Cardiac Valvular Dysplasia 2
Central cyanosis, Pulmonary artery dilatation OMIM:620067
Retinitis Pigmentosa And Erythrocytic Microcytosis
Pallor OMIM:616959
Classical Ehlers-Danlos Syndrome
Osteopenia, Striae distensae, Prematurely aged appearance, Poor wound healing, Hiatus hernia, Ost... ORPHA:287
Niemann-Pick Disease Type C
Abnormal lung morphology, Jaundice, Respiratory insufficiency, Pulmonary infiltrates, Respiratory... ORPHA:646
Wiedemann-Rautenstrauch Syndrome
Osteopenia, Reduced subcutaneous adipose tissue, Prominent scalp veins, Natal tooth, Thin upper l... ORPHA:3455
Fanconi Anemia, Complementation Group D2
Esophageal atresia, Bruising susceptibility, Anemic pallor, Tracheoesophageal fistula OMIM:227646
Fanconi Anemia, Complementation Group C
Flexion contracture, Anemic pallor, Bruising susceptibility OMIM:227645
Truncus Arteriosus
Cyanosis, Anomalous origin of one pulmonary artery from ascending aorta, Pulmonary artery stenosi... ORPHA:3384
Tsh-Secreting Pituitary Adenoma
Osteopenia, Osteoporosis, Pallor ORPHA:91347
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Pyloric stenosis, Supernumerary tooth, Widely spaced teeth, Cleft soft palate ORPHA:268261
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Submucous cleft hard palate, Flexion contracture OMIM:618891
Tuberous Sclerosis Complex
Respiratory distress, Respiratory tract infection, Respiratory failure, Generalized abnormality o... ORPHA:805
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Recurrent respiratory infections, Camptodactyly of finger, Submucous cleft hard palate, Neoplasm ... ORPHA:3047
Fanconi Anemia, Complementation Group E
Bruising susceptibility, Anemic pallor OMIM:600901
Aortic Arch Interruption
Respiratory distress, Cyanosis, Tachypnea, Aortopulmonary window, Exertional dyspnea ORPHA:2299
Mitochondrial Complex I Deficiency, Nuclear Type 32
Respiratory failure, Death in childhood OMIM:618252
Hyperoxaluria, Primary, Type I
Pathologic fracture, Increased bone mineral density, Acrocyanosis, Cutis marmorata OMIM:259900
Fanconi Anemia, Complementation Group A
Bruising susceptibility, Anemic pallor OMIM:227650
Microphthalmia, Syndromic 2
Delayed eruption of teeth, Persistence of primary teeth, Supernumerary tooth, Flexion contracture... OMIM:300166
Postinfectious Vasculitis
Palpable purpura, Cutis marmorata, Pneumonia, Arthritis, Vasculitis in the skin, Acrocyanosis, Re... ORPHA:48435
Tolchin-Le Caignec Syndrome
Submucous cleft hard palate, High palate, Narrow mouth OMIM:618971
Eisenmenger Syndrome
Respiratory distress, Cyanosis, Increased pulmonary vascular resistance, Wheezing, Aortopulmonary... ORPHA:97214
Aicardi-Goutières Syndrome
Multiple joint contractures, Cutis marmorata, Dry skin, Arthritis, Prolonged neonatal jaundice, A... ORPHA:51
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Delayed eruption of teeth, Aganglionic megacolon, Pulmonary artery sling, Dental crowding, Abnorm... ORPHA:261537
Mowat-Wilson Syndrome
Delayed eruption of teeth, Aganglionic megacolon, Pulmonary artery sling, Recurrent fractures, De... ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Delayed eruption of teeth, Aganglionic megacolon, Pulmonary artery sling, Dental crowding, Abnorm... ORPHA:261552
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Everted lower lip vermilion, Pallor OMIM:253280
Chromosome 1P36 Deletion Syndrome, Distal
Camptodactyly of finger, Cleft upper lip, Submucous cleft hard palate, Abnormal lung lobation, Or... OMIM:607872
Generalized Arterial Calcification Of Infancy
Respiratory distress, Cyanosis, Osteomalacia, Abnormal calcification of the carpal bones, Fused c... ORPHA:51608
Neuroocular Syndrome
Hyperextensibility of the finger joints, Short uvula, Submucous cleft hard palate, Downturned cor... OMIM:619539
Von Hippel-Lindau Disease
Pallor ORPHA:892
Coffin-Siris Syndrome 12
Joint laxity, Celiac disease, Velopharyngeal insufficiency, Submucous cleft hard palate, Radiouln... OMIM:619325
Holoprosencephaly 2
Submucous cleft hard palate, Bilateral cleft lip and palate, Solitary median maxillary central in... OMIM:157170
Mowat-Wilson Syndrome
Delayed eruption of teeth, Aganglionic megacolon, Pulmonary artery sling, Pyloric stenosis, Pulmo... OMIM:235730
Cardiac Valvular Dysplasia 1
Pulmonary artery atresia, Cyanosis OMIM:212093
Congenitally Corrected Transposition Of The Great Arteries
Pulmonary artery atresia, Cyanosis ORPHA:216694

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 Gskip

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 Gskip.

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

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MGI Allele Allele Type Produced
Gskiptm1(KOMP)Mbp Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Gskiptm429429(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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