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Gene: Phf14 MGI:1923539

Gene Summary

Name:

PHD finger protein 14

Synonyms:

4932409F11Rik, 5730446A07Rik, 1110001C23Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
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.

Phenotype	Allele	Zyg	Life Stage	P Value
decreased startle reflex	Phf14^{em1(IMPC)Hmgu}	HET	Early adult	4.06×10^-05
decreased locomotor activity	Phf14^{em1(IMPC)Hmgu}	HET	Early adult	2.20×10^-06
preweaning lethality, complete penetrance	Phf14^{em1(IMPC)Hmgu}	HOM	Early adult	1.34×10^-06
decreased circulating alkaline phosphatase level	Phf14^{em1(IMPC)Hmgu}	HET	Early adult	5.39×10^-07
hyperactivity	Phf14^{em1(IMPC)Hmgu}	HET	Early adult	6.72×10^-06
decreased vertical activity	Phf14^{em1(IMPC)Hmgu}	HET	Early adult	1.06×10^-06

Download data as: TSV XLS

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Phf14 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 Phf14 (0 diseases)
Human diseases predicted to be associated with Phf14 (693 diseases)

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

The table below shows human diseases predicted to be associated to Phf14 by phenotypic similarity.

Disease	Matching phenotypes	Source
Attention Deficit-Hyperactivity Disorder	Attention deficit hyperactivity disorder, Hyperactivity	OMIM:143465
Surfactant Metabolism Dysfunction, Pulmonary, 3	Crazy paving pattern, Neonatal death, Tachypnea, Paraseptal emphysema, Clubbing, Reticular patter...	OMIM:610921
Surfactant Metabolism Dysfunction, Pulmonary, 1	Neonatal respiratory distress, Absent bronchoalveolar dimeric surfactant-protein B, Intraalveolar...	OMIM:265120
Interstitial Pneumonitis, Desquamative, Familial	Recurrent upper respiratory tract infections, Respiratory distress, Cyanosis, Type II pneumocyte ...	OMIM:263000
Lethal Congenital Contracture Syndrome 3	Neonatal death, Arthrogryposis multiplex congenita, Multiple joint contractures, Respiratory insu...	OMIM:611369
Immunodeficiency 95	Recurrent viral pneumonia, Respiratory distress, Recurrent viral upper respiratory tract infectio...	OMIM:619773
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting	Gait ataxia, Hyperactivity, Dystonia, Dysphagia, Impulsivity	OMIM:620448
Schizophrenia 15	Hyperactivity	OMIM:613950
Bronchopulmonary Dysplasia	Atelectasis, Respiratory distress, Emphysema, Central apnea, Hyperoxemia, Dyspnea, Abnormal lung ...	ORPHA:70589
Surfactant Metabolism Dysfunction, Pulmonary, 2	Intralobular septal thickening, Bronchiectasis, Spontaneous pneumothorax, Recurrent pneumonia, In...	OMIM:610913
Respiratory Distress Syndrome In Premature Infants	Neonatal respiratory distress, Atelectasis, Respiratory distress, Pulmonary edema, Tachypnea, Dys...	OMIM:267450
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related	Apnea, Respiratory failure, Death in infancy, Respiratory insufficiency	OMIM:613869
22q13 deletion syndrome (Phelan-Mcdermid syndrome)	Hyperactivity	DECIPHER:20
Krabbe Disease, Atypical, Due To Saposin A Deficiency	Central apnea, Respiratory failure, Death in infancy, Respiratory insufficiency	OMIM:611722
Perching Syndrome	Respiratory distress, Camptodactyly, Cyanosis, Joint contracture	OMIM:617055
Spinal Muscular Atrophy, Type I	Recurrent respiratory infections, Respiratory failure, Death in childhood, Respiratory insufficiency	OMIM:253300
Hypomyelination Neuropathy-Arthrogryposis Syndrome	Respiratory distress, Limitation of joint mobility	ORPHA:2680
Infant Acute Respiratory Distress Syndrome	Pneumonia, Atelectasis, Hypoxemia, Respiratory tract infection, Cyanosis, Pulmonary edema, Tachyp...	ORPHA:70587
Bullous Dystrophy, Hereditary Macular Type	Tapered finger, Acrocyanosis, Death in childhood, Short finger	OMIM:302000
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset	Death in adolescence, Flexion contracture, Respiratory failure, Respiratory insufficiency due to ...	OMIM:300717
Asbestos Intoxication	Abnormal pulmonary interstitial morphology, Atelectasis, Interlobular septal thickening, Oxygen d...	ORPHA:2302
Potocki-Lupski syndrome (17p11.2 duplication syndrome)	Hyperactivity	DECIPHER:19
Muscular Hypertonia, Lethal	Respiratory distress, Pneumonia, Death in infancy	OMIM:254120
Intellectual Developmental Disorder, Autosomal Recessive 3	Hyperactivity	OMIM:608443
Developmental And Epileptic Encephalopathy 71	Cheyne-Stokes respiration, Respiratory failure, Respiratory insufficiency	OMIM:618328
Intellectual Developmental Disorder, Autosomal Recessive 37	Bruxism, Aggressive behavior, Hyperactivity	OMIM:615493
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome	Bruxism, Aggressive behavior, Hyperactivity	ORPHA:356996
Pontocerebellar Hypoplasia, Type 1C	Death in childhood, Respiratory failure, Joint contracture, Respiratory insufficiency	OMIM:616081
Congenital Myopathy 14	Elbow flexion contracture, Apnea, Knee flexion contracture, Hip contracture, Death in infancy, Re...	OMIM:618414
Isolated Congenital Hypoglossia/Aglossia	Respiratory distress, Aplasia/Hypoplasia of fingers, Dyspnea, Aspiration pneumonia	ORPHA:141152
Renal Hypodysplasia/Aplasia 4	Respiratory failure, Pulmonary hypoplasia	OMIM:619887
Intellectual Developmental Disorder, X-Linked 111	Phonic tics, Dystonia, Aggressive behavior, Hyperactivity, Compulsive behaviors, Unsteady gait	OMIM:301107
Metatropic Dysplasia	Epiphyseal dysplasia, Caudal appendage, Genu valgum, Flat acetabular roof, Dumbbell-shaped metaph...	OMIM:156530
Glycine Encephalopathy 1	Hyperglycinemia, Aggressive behavior, Lethargy, Hyperactivity, Restlessness, Impulsivity	OMIM:605899
Idiopathic Pulmonary Fibrosis	Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Orthodeoxia, Exertional dyspne...	ORPHA:2032
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome	Acrocyanosis	ORPHA:86918
Pulmonary Alveolar Proteinosis, Acquired	Pneumonia, Intraalveolar phospholipid accumulation, Cyanosis, Lung abscess, Dyspnea, Recurrent re...	OMIM:610910
Seizures, Benign Familial Infantile, 3	Apnea, Cyanosis	OMIM:607745
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Limb dystonia, Tremor, Aggressive behavior, Hyperactivity, Ataxia	OMIM:620270
Tremor, Hereditary Essential, 5	Tongue tremor, Bradykinesia, Postural tremor, Kinetic tremor, Intention tremor	OMIM:616736
Venular Insufficiency, Systemic	Cyanosis	OMIM:192700
Sulfhemoglobinemia, Congenital	Cyanosis	OMIM:185460
Pneumocystosis	Respiratory insufficiency, Pleural effusion, Interstitial pneumonitis, Multiple pulmonary cysts, ...	ORPHA:723
Hyperprolinemia, Type I	Hyperprolinemia, Aggressive behavior, Hyperactivity, Ataxia, Motor stereotypy	OMIM:239500
Stuve-Wiedemann Syndrome 2	Respiratory distress, Neonatal death, Bowing of the long bones, Death in adolescence, Short long ...	OMIM:619751
Acute Interstitial Pneumonia	Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Hypoxemia...	ORPHA:79126
Phosphoserine Aminotransferase Deficiency	Cyanotic episode, Apnea, Death in infancy	OMIM:610992
Emphysema, Congenital Lobar	Respiratory distress	OMIM:130710
Seizures, Benign Familial Infantile, 1	Apnea, Cyanosis	OMIM:601764
Severe Acute Respiratory Syndrome	Respiratory distress, Acute infectious pneumonia, Dyspnea, Hypoxemia, Respiratory failure requiri...	ORPHA:140896
Glycine Encephalopathy 2	Respiratory failure	OMIM:620398
Intellectual Developmental Disorder, Autosomal Recessive 54	Attention deficit hyperactivity disorder, Exaggerated startle response	OMIM:617028
Smith-Magenis syndrome	Motor stereotypy, Hyperactivity, Self-mutilation	DECIPHER:8
Encephalopathy, Progressive, With Or Without Lipodystrophy	Ataxia, Tremor, Hyperactivity, Hypertriglyceridemia, Dystonia	OMIM:615924
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Dyspnea, Respiratory failure requiring assisted ventilation, Respiratory failure, Aspiration pneu...	ORPHA:90117
Methemoglobinemia, Beta Type	Cyanosis	OMIM:617971
Methemoglobinemia, Alpha Type	Cyanosis	OMIM:617973
Myasthenic Syndrome, Congenital, 6, Presynaptic	Respiratory distress, Respiratory insufficiency due to muscle weakness, Apneic episodes precipita...	OMIM:254210
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Respiratory distress, Recurrent respiratory infections, Bronchiectasis, Atelectasis	OMIM:619466
Nemaline Myopathy 8	Flexion contracture, Respiratory failure, Death in infancy	OMIM:615348
Lethal Osteosclerotic Bone Dysplasia	Respiratory distress, Dyspnea, Respiratory failure	ORPHA:1832
Acute Lung Injury	Pneumonia, Diffuse alveolar hemorrhage, Respiratory distress, Tachypnea, Dyspnea, Abnormal pulmon...	ORPHA:178320
Spondylometaphyseal Dysplasia, X-Linked	Short finger, Hyperextensibility of the finger joints, Respiratory insufficiency, Sclerosis of sk...	OMIM:313420
Intellectual Developmental Disorder, X-Linked 109	Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit...	OMIM:309548
Recurrent Respiratory Papillomatosis	Recurrent upper respiratory tract infections, Recurrent pneumonia, Tracheomalacia, Atelectasis, R...	ORPHA:60032
Laryngotracheal Angioma	Respiratory distress, Apnea, Intercostal retractions, Cyanosis	ORPHA:137935
Congenital Lobar Emphysema	Respiratory distress, Emphysema	ORPHA:1928
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Broad-based gait, Tremor, Aggressive behavior, Hyperactivity, Motor stereotypy	OMIM:619470
Fraxe Intellectual Disability	Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Hyperactiv...	ORPHA:100973
Developmental And Epileptic Encephalopathy 43	Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity, Ataxia	OMIM:617113
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A	Respiratory insufficiency, Respiratory failure, Limited knee flexion/extension, Limited elbow fle...	ORPHA:266
Ceroid Lipofuscinosis, Neuronal, 10	Respiratory insufficiency, Apnea, Neonatal death, Split hand, Respiratory failure	OMIM:610127
Microcephaly, Seizures, And Developmental Delay	Hyperactivity, Ataxia	OMIM:613402
Intellectual Developmental Disorder, X-Linked 72	Motor stereotypy, Hyperactivity	OMIM:300271
Congenital Myopathy 10A, Severe Variant	Respiratory distress, Respiratory insufficiency, Respiratory failure, Camptodactyly of finger	OMIM:614399
Hereditary Butyrylcholinesterase Deficiency	Respiratory failure, Respiratory failure requiring assisted ventilation	ORPHA:132
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Inability to walk, Gait ataxia, Dysmetria, Tremor, Gait disturbance, Hyperactivity	OMIM:618090
Developmental And Epileptic Encephalopathy 30	Respiratory distress, Death in infancy	OMIM:616341
Chronic Pneumonitis Of Infancy	Intercostal retractions, Respiratory distress, Cyanosis, Tachypnea, Hyperventilation, Hypoxemia	ORPHA:91359
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Respiratory distress, Joint hypermobility, Arachnodactyly, Missing ribs, Abnormal rib morphology,...	ORPHA:2759
Primary Pulmonary Hypoplasia	Abnormal pulmonary artery morphology, Neonatal respiratory distress, Patellar hypoplasia, Apnea, ...	ORPHA:2257
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability	Hypoplasia of the capital femoral epiphysis, Respiratory failure, Joint hypermobility	OMIM:600561
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Respiratory distress, Cyanosis	ORPHA:91130
Hereditary Pulmonary Alveolar Proteinosis	Crazy paving pattern, Respiratory distress, Tachypnea, Acute infectious pneumonia, Hypoxemia, Res...	ORPHA:264675
Congenital Arthrogryposis With Anterior Horn Cell Disease	Neonatal death, Hip dysplasia, Respiratory insufficiency due to muscle weakness, Rocker bottom fo...	OMIM:611890
Laryngotracheoesophageal Cleft	Dyspnea, Cyanosis, Recurrent respiratory infections, Neonatal respiratory distress	ORPHA:2004
High Altitude Pulmonary Edema	Cyanosis, Pulmonary edema, Tachypnea, Orthopnea, Dyspnea, Hypoxemia	ORPHA:330012
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Recurrent pneumonia, Respiratory insufficiency, Respiratory distress, Respiratory insufficiency d...	ORPHA:254875
Pontocerebellar Hypoplasia, Type 4	Congenital contracture, Respiratory failure, Death in infancy	OMIM:225753
Arthrogryposis Multiplex Congenita 6	Death in childhood, Death in infancy, Neonatal death, Adducted thumb, Arthrogryposis multiplex co...	OMIM:619334
Stxbp1-Related Encephalopathy	Inability to walk, Tremor, Hyperactivity, Ataxia, Dystonia	ORPHA:599373
Congenital Myopathy 21 With Early Respiratory Failure	Dyspnea, Nocturnal hypoventilation, Lipoid pneumonia, Respiratory failure	OMIM:620326
Severe X-Linked Mitochondrial Encephalomyopathy	Respiratory distress, Respiratory insufficiency	ORPHA:238329
Staphylococcal Necrotizing Pneumonia	Pneumonia, Respiratory distress, Hypoxemia, Pleural effusion, Tachypnea, Pneumothorax, Acute infe...	ORPHA:36238
Hartnup Disorder	Attention deficit hyperactivity disorder, Hyperactivity, Episodic ataxia	OMIM:234500
Familial Nasal Acilia	Recurrent upper respiratory tract infections, Atelectasis, Respiratory distress, Dyspnea, Bronchi...	ORPHA:922
Guanidinoacetate Methyltransferase Deficiency	Self-injurious behavior, Aggressive behavior, Hyperactivity, Ataxia, Dystonia, Athetosis	ORPHA:382
Intellectual Developmental Disorder, X-Linked 104	Aggressive behavior, Hyperactivity, Tremor, Ataxia	OMIM:300983
Bardet-Biedl Syndrome 16	Respiratory distress, Recurrent respiratory infections, Bronchiolitis, Polydactyly	OMIM:615993
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Hypoplastic ilia, Pulmonary hypoplasia, Respiratory distress, Horizontal ribs, Short ribs, Postax...	OMIM:617895
Myasthenic Syndrome, Congenital, 4A, Slow-Channel	Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic a...	OMIM:605809
Hyperekplexia 4	Distal arthrogryposis, Adducted thumb, Camptodactyly, Flexion contracture, Respiratory failure	OMIM:618011
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Apnea, Respiratory failure, Death in infancy	OMIM:616277
Fibrodysplasia Ossificans Progressiva	Broad femoral neck, Short 1st metacarpal, Respiratory insufficiency, Ectopic ossification in liga...	OMIM:135100
Combined Oxidative Phosphorylation Deficiency 51	Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia	OMIM:619057
Gaucher Disease Type 2	Respiratory distress, Recurrent respiratory infections, Flexion contracture, Abnormal pattern of ...	ORPHA:77260
Neuralgic Amyotrophy	Respiratory insufficiency, Acrocyanosis, Syndactyly	ORPHA:2901
Pleural Mesothelioma	Respiratory distress, Abnormal pleura morphology, Pleural effusion, Dyspnea, Abnormal lung morpho...	ORPHA:50251
Odontochondrodysplasia 1	Metaphyseal cupping, Recurrent respiratory infections, Respiratory distress, Irregular epiphyses,...	OMIM:184260
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Emphysema, Respiratory tract infection, Chronic bronchitis, Honeycomb lung, Clubbing, Dyspnea, Hy...	ORPHA:79127
Neurogenic Arthrogryposis Multiplex Congenita	Ankle flexion contracture, Respiratory distress, Elbow flexion contracture, Acetabular dysplasia,...	ORPHA:1143
Ciliary Dyskinesia, Primary, 21	Neonatal respiratory distress, Recurrent pneumonia, Bronchiectasis, Atelectasis	OMIM:615294
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	Respiratory distress	ORPHA:171703
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Neonatal respiratory distress, Multiple prenatal fractures, Flexion contracture, Arthrogryposis m...	OMIM:616867
Central Hypoventilation Syndrome, Congenital, 3	Apnea, Respiratory failure, Central hypoventilation	OMIM:619483
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies	Self-injurious behavior, Aggressive behavior, Hyperactivity	OMIM:619031
Pulmonary Capillary Hemangiomatosis	Diffuse alveolar hemorrhage, Interlobular septal thickening, Pleural effusion, Hemothorax, Cyanos...	ORPHA:199241
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Recurrent upper respiratory tract infections, Interstitial pneumonitis, Petechiae, Vasculitis in ...	OMIM:620296
Ciliary Dyskinesia, Primary, 5	Recurrent pneumonia, Neonatal respiratory distress, Recurrent sinusitis, Chronic bronchitis, Resp...	OMIM:608647
Meconium Aspiration Syndrome	Neonatal asphyxia, Atelectasis, Aspiration pneumonia, Respiratory distress, Pneumothorax, Hypoxemia	ORPHA:70588
Choanal Atresia	Tracheomalacia, Respiratory distress, Cyanosis, Polydactyly, Craniosynostosis, Recurrent respirat...	ORPHA:137914
Adult Acute Respiratory Distress Syndrome	Pneumonia, Pulmonary edema, Abnormal blood gas level, Dyspnea, Hypoxemia, Respiratory failure	ORPHA:70578
Juvenile Huntington Disease	Broad-based gait, Gait ataxia, Dystonia, Hyperactivity, Ataxia, Bradykinesia, Progressive cerebel...	ORPHA:248111
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia	Self-injurious behavior, Inability to walk, Bruxism, Tremor, Motor stereotypy, Hyperactivity, Par...	OMIM:618718
Amyotrophic Lateral Sclerosis 28	Respiratory failure	OMIM:620452
Ullrich Congenital Muscular Dystrophy	Slender finger, Elbow flexion contracture, Wrist hypermobility, Increased laxity of fingers, Knee...	ORPHA:75840
Pulmonary Alveolar Microlithiasis	Bronchitis, Interlobular septal thickening, Subpleural interstitial thickening, Respiratory insuf...	ORPHA:60025
Hepatic Veno-Occlusive Disease	Jaundice, Respiratory failure	ORPHA:890
Diaphanospondylodysostosis	Respiratory distress, Absent or minimally ossified vertebral bodies, Missing ribs, Narrow pelvis ...	ORPHA:66637
Interstitial Lung Disease 2	Usual interstitial pneumonia, Alveolar cell carcinoma, Exertional dyspnea, Dyspnea, Pulmonary fib...	OMIM:178500
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type	Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity	OMIM:301008
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly	Self-injurious behavior, Inappropriate behavior, Aggressive behavior, Attention deficit hyperacti...	OMIM:619827
Vacterl Association With Hydrocephalus	Absent thumb, Respiratory insufficiency, Radial club hand, Stillbirth, Respiratory failure	OMIM:276950
Obesity-Hypoventilation Syndrome	Cyanosis, Hypoventilation	OMIM:257500
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Recurrent aspiration pneumonia, Respiratory failure, Respiratory insufficiency due to muscle weak...	ORPHA:2590
Congenital Pulmonary Lymphangiectasia	Respiratory distress, Pleural effusion, Cyanosis	ORPHA:2414
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Neonatal respiratory distress, Atelectasis, Respiratory distress, Cystic pattern on pulmonary HRC...	OMIM:610978
Idiopathic Bronchiectasis	Emphysema, Respiratory tract infection, Acute infectious pneumonia, Clubbing, Dyspnea, Recurrent ...	ORPHA:60033
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Respiratory distress, Respiratory insufficiency due to muscle weakness	OMIM:300580
Surfactant Metabolism Dysfunction, Pulmonary, 5	Intraalveolar phospholipid accumulation, Respiratory insufficiency, Interlobular septal thickenin...	OMIM:614370
Cryptogenic Organizing Pneumonia	Respiratory distress, Cyanosis, Pneumothorax, Dyspnea, Hypoxemia	ORPHA:1302
Restrictive Dermopathy 2	Respiratory distress, Cyanosis, Short clavicles, Overtubulated long bones	OMIM:619793
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Broad-based gait, Shuffling gait, Abnormal fear-induced behavior, Resting tremor, Tremor, Aggress...	ORPHA:3077
Classic Glucose Transporter Type 1 Deficiency Syndrome	Central apnea, Cyanosis	ORPHA:71277
Succinic Acidemia	Respiratory distress	OMIM:600335
Autoimmune Pulmonary Alveolar Proteinosis	Crazy paving pattern, Intraalveolar phospholipid accumulation, Cyanosis, Dyspnea, Hypoxemia, Club...	ORPHA:747
Congenital Disorder Of Glycosylation, Type Iu	Respiratory distress, Neonatal respiratory distress, Congenital contracture, Death in infancy	OMIM:615042
Congenital Neuronal Ceroid Lipofuscinosis	Respiratory failure, Neonatal respiratory distress, Apnea, Split hand	ORPHA:168486
Pulmonary Hypoplasia, Primary	Neonatal death, Pulmonary hypoplasia	OMIM:265430
Lethal Recessive Chondrodysplasia	Respiratory distress, Generalized osteosclerosis, Short long bone, Flared elbow metaphyses	ORPHA:1423
Infantile-Onset X-Linked Spinal Muscular Atrophy	Ankle flexion contracture, Interphalangeal joint contracture of finger, Respiratory insufficiency...	ORPHA:1145
Avian Influenza	Pneumonia, Respiratory distress, Pleural effusion, Tachypnea, Pneumothorax, Dyspnea, Hypoxemia, R...	ORPHA:454836
Odontochondrodysplasia	Cone-shaped epiphysis, Square pelvis bone, Respiratory distress, Death in infancy, Joint hypermob...	ORPHA:166272
Sarcoidosis, Susceptibility To, 2	Emphysema, Hypoxemia, Pleural effusion, Pneumothorax, Clubbing, Dyspnea, Abnormal pulmonary inter...	OMIM:612387
Postsynaptic Congenital Myasthenic Syndromes	Cyanosis, Exertional dyspnea, Orthopnea, Respiratory failure	ORPHA:98913
Cyanosis, Transient Neonatal	Jaundice, Cyanosis	OMIM:613977
Congenital Muscular Dystrophy With Intellectual Disability	Respiratory insufficiency, Respiratory failure, Hip dislocation, Multiple joint contractures	ORPHA:370968
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Congenital hip dislocation, Overlapping fingers, Multiple joint contractures, Femur fracture, Cen...	OMIM:618291
Congenital Diaphragmatic Hernia	Respiratory distress, Hypoxemia, Pulmonary hypoplasia	ORPHA:2140
Oculopharyngeal Myopathy With Leukoencephalopathy 1	Respiratory failure	OMIM:618637
Combined Oxidative Phosphorylation Deficiency 28	Respiratory failure	OMIM:616794
Myotubular Myopathy With Abnormal Genital Development	Thin ribs, Atelectasis, Respiratory distress, Death in infancy, Neonatal death, Joint hypermobility	OMIM:300219
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Neonatal respiratory distress, Respiratory insufficiency, Death in childhood, Death in infancy, N...	OMIM:245400
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Respiratory distress	OMIM:619099
Bronchiolitis Obliterans	Pneumonia, Respiratory tract infection, Dyspnea, Bronchiolitis obliterans, Hypoxemia, Bronchiectasis	ORPHA:1303
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Thin ribs, Hypoplastic ilia, Metaphyseal cupping, Radial bowing, Stillbirth, Respiratory distress...	OMIM:151210
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Respiratory distress, Ventilator dependence with inability to wean, Respiratory failure requiring...	ORPHA:254864
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6	Arthrogryposis-like hand anomaly, Respiratory distress, Recurrent acute respiratory tract infecti...	OMIM:620011
X-Linked Centronuclear Myopathy	Respiratory distress, Recurrent respiratory infections, Pneumonia, Respiratory failure requiring ...	ORPHA:596
Slc35A1-Cdg	Pneumonia, Respiratory distress, Subcutaneous hemorrhage, Pulmonary hemorrhage, Hypoxemia	ORPHA:238459
Interstitial Lung Disease 1	Usual interstitial pneumonia, Intralobular septal thickening, Elevated bronchoalveolar lavage flu...	OMIM:619611
Muscular Dystrophy, Congenital, 1B	Respiratory failure, Achilles tendon contracture	OMIM:604801
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Respiratory insufficiency, Respiratory distress, Death in infancy, Tachypnea, Respiratory failure	OMIM:614299
Benign Familial Infantile Epilepsy	Apnea, Cyanosis	ORPHA:306
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures	Respiratory distress, Joint contracture	OMIM:617977
Breath-Holding Spells	Cyanosis	OMIM:607578
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Inability to walk, Gait ataxia, Aggressive behavior, Hyperactivity, Dystonia, Dysphagia, Impulsivity	ORPHA:500180
Intermediate Nemaline Myopathy	Flexion contracture, Arthrogryposis multiplex congenita, Respiratory failure, Multiple prenatal f...	ORPHA:171433
Cardiomyopathy, Dilated, 1Gg	Respiratory distress	OMIM:613642
Autoimmune Interstitial Lung, Joint, And Kidney Disease	Abnormal pulmonary interstitial morphology, Pulmonary hemorrhage, Tachypnea, Arthritis, Dyspnea, ...	OMIM:616414
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Respiratory distress, Slender finger, Jaundice, Respiratory failure	OMIM:250940
Cardiomyopathy, Dilated, 2H	Tachypnea, Cardiorespiratory arrest, Neonatal death	OMIM:620203
Cryofibrinogenemia, Familial Primary	Acrocyanosis	OMIM:123540
Acquired Methemoglobinemia	Respiratory distress, Hypoxemia, Dyspnea, Cyanosis	ORPHA:464453
Intellectual Developmental Disorder, Autosomal Recessive 38	Recurrent hand flapping, Self-mutilation, Aggressive behavior, Hyperactivity, Unsteady gait	OMIM:615516
Waardenburg Syndrome Type 3	Synostosis of carpal bones, Tracheomalacia, Atelectasis, Camptodactyly of finger, Cutaneous finge...	ORPHA:896
Idiopathic Pulmonary Hemosiderosis	Reticular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Nodular pattern on pulmonary HR...	ORPHA:99931
Tracheobronchopathia Osteochondroplastica	Pneumonia, Recurrent pneumonia, Bronchitis, Atelectasis, Respiratory insufficiency, Exertional dy...	ORPHA:3348
Radio-Renal Syndrome	Chylothorax, Respiratory distress, Pleural effusion, Hypoplasia of the radius, Brachydactyly, Abn...	ORPHA:3015
Neuropathy, Congenital Hypomyelinating, 3	Respiratory insufficiency, Neonatal death, 2-3 toe syndactyly, Limb joint contracture, Flexion co...	OMIM:618186
Congenital Tracheomalacia	Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, In...	ORPHA:95430
Congenital Disorder Of Glycosylation, Type Iy	Respiratory distress, Clinodactyly	OMIM:300934
Leigh Syndrome, Nuclear	Respiratory failure, Abnormal pattern of respiration, Respiratory insufficiency	OMIM:256000
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive	Respiratory distress, Lymphocytic interstitial pneumonia	OMIM:245590
Succinic Semialdehyde Dehydrogenase Deficiency	Self-injurious behavior, Elevated circulating gamma-aminobutyric acid concentration, Aggressive b...	OMIM:271980
Scedosporiosis	Pneumonia, Bronchitis, Osteomyelitis, Arthralgia/arthritis, Septic arthritis, Pulmonary fibrosis,...	ORPHA:449280
Larsen-Like Syndrome, Lethal Type	Neonatal death, Respiratory insufficiency, Tracheomalacia, Pulmonary hypoplasia	OMIM:245650
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures	Self-injurious behavior, Inability to walk, Aggressive behavior, Hyperactivity, Choreoathetosis	OMIM:620023
Hereditary Methemoglobinemia	Exertional dyspnea, Cyanosis	ORPHA:621
Hypophosphatasia	Respiratory insufficiency, Emphysema, Bowing of the long bones, Abnormal rib morphology, Craniosy...	ORPHA:436
Chitayat Syndrome	Tracheomalacia, Respiratory distress, Hallux valgus, Brachydactyly, Abnormal pulmonary interstiti...	OMIM:617180
Ciliary Dyskinesia, Primary, 33	Recurrent pneumonia, Atelectasis, Recurrent bronchitis, Recurrent lower respiratory tract infecti...	OMIM:616726
Combined Oxidative Phosphorylation Defect Type 23	Cyanosis, Respiratory failure, Paroxysmal dyspnea	ORPHA:444013
Tricuspid Atresia	Pulmonary artery atresia, Cyanosis	ORPHA:1209
Mitochondrial Phosphate Carrier Deficiency	Cyanosis, Respiratory insufficiency	OMIM:610773
Mitochondrial Complex I Deficiency, Nuclear Type 10	Apnea, Respiratory failure, Central hypoventilation	OMIM:618233
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28	Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory insufficien...	OMIM:620375
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Dyspnea, Respiratory failure, Respiratory insufficiency due to muscle weakness	ORPHA:352447
Pyruvate Dehydrogenase E1-Alpha Deficiency	Apneic episodes precipitated by illness, fatigue, stress, Respiratory failure	OMIM:312170
Pulmonary Non-Tuberculous Mycobacterial Infection	Respiratory distress, Pleural effusion, Pneumothorax, Dyspnea, Bronchiectasis	ORPHA:411703
Multiple Mitochondrial Dysfunctions Syndrome 3	Arthrogryposis multiplex congenita, Respiratory failure, Respiratory insufficiency	OMIM:615330
Intellectual Developmental Disorder, Autosomal Dominant 67	Compulsive behaviors, Attention deficit hyperactivity disorder, Motor tics, Hyperactivity	OMIM:619927
Mitochondrial Complex I Deficiency, Nuclear Type 18	Respiratory failure, Death in infancy	OMIM:618240
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome	Neonatal death, Bilateral lung agenesis, Respiratory insufficiency	OMIM:601612
Peripheral Motor Neuropathy-Dysautonomia Syndrome	Joint stiffness, Acrocyanosis	ORPHA:2400
Niemann-Pick Disease, Type C2	Neonatal respiratory distress, Respiratory insufficiency, Death in childhood, Death in infancy, P...	OMIM:607625
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Neonatal respiratory distress, Hypopnea, Respiratory distress, Apnea, Death in childhood, Death i...	OMIM:618426
Combined Oxidative Phosphorylation Deficiency 30	Respiratory distress, Death in infancy	OMIM:616974
Myopathy, Myofibrillar, 9, With Early Respiratory Failure	Nocturnal hypoventilation, Respiratory failure, Achilles tendon contracture	OMIM:603689
Congenital Tricuspid Valve Dysplasia	Cyanosis, Tachypnea, Respiratory failure, Hypoxemia, Anomalous pulmonary venous return, Respirato...	ORPHA:555874
Combined Oxidative Phosphorylation Deficiency 52	Respiratory failure, Death in infancy	OMIM:619386
Proximal Spinal Muscular Atrophy	Recurrent aspiration pneumonia, Neonatal respiratory distress, Elbow flexion contracture, Multipl...	ORPHA:70
Emphysema, Hereditary Pulmonary	Emphysema, Chronic bronchitis	OMIM:130700
Alpha-1-Antitrypsin Deficiency	Dyspnea, Bronchiectasis, Panacinar emphysema, Chronic bronchitis	OMIM:613490
Primary Ciliary Dyskinesia	Neonatal respiratory distress, Atelectasis, Pulmonary situs ambiguus, Respiratory tract infection...	ORPHA:244
Intellectual Developmental Disorder, X-Linked 77	Hyperactivity	OMIM:300454
Immunodeficiency 54	Recurrent respiratory infections, Respiratory failure, Respiratory insufficiency	OMIM:609981
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type	Hyperactivity, Inflexible adherence to routines	OMIM:301076
Hypoadrenocorticism, Familial	Apnea, Cyanosis	OMIM:240200
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Respiratory failure	OMIM:613435
Mercury Poisoning	Respiratory distress, Dyspnea, Interstitial pneumonitis, Respiratory failure	ORPHA:330021
Congenital Myasthenic Syndrome	Congenital hip dislocation, Intermittent episodes of respiratory insufficiency due to muscle weak...	ORPHA:590
Presynaptic Congenital Myasthenic Syndromes	Congenital hip dislocation, Intermittent episodes of respiratory insufficiency due to muscle weak...	ORPHA:98914
Benign Familial Neonatal Epilepsy	Circumoral cyanosis, Apnea	ORPHA:1949
Severe Congenital Nemaline Myopathy	Thin ribs, Adducted thumb, Multiple prenatal fractures, Flexion contracture, Arthrogryposis multi...	ORPHA:171430
Cutis Laxa-Marfanoid Syndrome	Limitation of joint mobility, Emphysema, Arachnodactyly, Flexion contracture, Hip dislocation	ORPHA:171719
Muscular Dystrophy, Duchenne Type	Hamstring contractures, Knee flexion contracture, Hypoventilation, Achilles tendon contracture, F...	OMIM:310200
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema	Respiratory distress, Erythema, Angioedema	ORPHA:100057
Laryngomalacia	Respiratory distress	OMIM:150280
Coenzyme Q10 Deficiency, Primary, 8	Respiratory distress, Flexion contracture, Pulmonary hypoplasia	OMIM:616733
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Bronchiolitis, Atelectasis, Decreased cervical spine flexion due to contractures of posterior cer...	ORPHA:254361
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Angel-shaped phalanx, Short distal phalanx of finger, Sandal gap, Respiratory distress, Cone-shap...	OMIM:617102
C1Q Deficiency 2	Atelectasis, Facial erythema, Arthritis, Vasculitis in the skin, Recurrent lower respiratory trac...	OMIM:620321
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Ventilator dependence with inability to wean, Tachypnea, Respiratory failure, Camptodactyly of fi...	OMIM:604320
Triosephosphate Isomerase Deficiency	Respiratory insufficiency, Respiratory distress, Death in infancy, Death in adolescence, Respirat...	OMIM:615512
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Respiratory distress, Respiratory insufficiency due to muscle weakness	OMIM:613561
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteopenia, Periostitis, Respiratory distress, Osteomyelitis, Broad ribs, Flaring of rib cage, Pu...	OMIM:612852
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Joint contracture of the hand, Chylothorax, Respiratory distress, Death in childhood, Death in in...	OMIM:620278
Diaphanospondylodysostosis	Pulmonary hypoplasia, Tracheomalacia, Respiratory insufficiency, Respiratory distress, Absent in ...	OMIM:608022
Osteogenesis Imperfecta, Type X	Thin ribs, Osteopenia, Recurrent pneumonia, Respiratory distress, Broad ribs, Genu valgum, Fibula...	OMIM:613848
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Broad-based gait, Inappropriate laughter, Polyphagia, Hyperactivity, Ataxia	ORPHA:411515
Kniest Dysplasia	Delayed epiphyseal ossification, Limitation of joint mobility, Tracheomalacia, Dumbbell-shaped fe...	OMIM:156550
Achondroplasia	Pulmonary hypoplasia, Radial bowing, Flared metaphysis, Respiratory distress, Femoral bowing, Lim...	OMIM:100800
Chronic Beryllium Disease	Reticulonodular pattern on pulmonary HRCT, Respiratory insufficiency, Lymphocytic interstitial pn...	ORPHA:133
Myopathy And Diabetes Mellitus	Respiratory distress, Achilles tendon contracture	ORPHA:2596
Malaria	Respiratory distress	ORPHA:673
Glycine Encephalopathy With Normal Serum Glycine	Elbow flexion contracture, Overlapping toe, Apnea, Hip contracture, Joint hypermobility, Flexion ...	OMIM:617301
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Oculogyric crisis, Abnormal circulating biopterin concentration, Tremor, Abnormal circulating neo...	OMIM:612716
Stiff Person Spectrum Disorder	Difficulty walking, Falls, Exaggerated startle response	ORPHA:3198
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Respiratory distress, Femoral bowing, Tibial bowing, Neonatal death, Palmoplantar cutis laxa, Cen...	OMIM:616482
Spinal muscular atrophy, type I, with congenital bone fractures	Osteopenia, Congenital hip dislocation, Respiratory distress, Arachnodactyly, Multiple prenatal f...	OMIM:271225
Short Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress	ORPHA:26792
Idiopathic Chronic Eosinophilic Pneumonia	Atelectasis, Generalized abnormality of skin, Pleural effusion, Dyspnea, Hypersensitivity pneumon...	ORPHA:2902
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Recurrent bronchitis, Atelectasis	OMIM:300455
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Vertebral fusion, Achilles tendon contracture, Respiratory failure, Elbow contracture	OMIM:606612
Neuromyelitis Optica Spectrum Disorder	Respiratory failure	ORPHA:71211
Pulmonary Arteriovenous Malformation	Pulmonary hemorrhage, Hemothorax, Cyanosis, Telangiectasia, Dyspnea, Hypoxemia, Clubbing, Pleural...	ORPHA:2038
Car T Cell Therapy-Associated Cytokine Release Syndrome	Pleural effusion, Pulmonary edema, Tachypnea, Respiratory failure, Hypoxemia	ORPHA:542323
Brown-Vialetto-Van Laere Syndrome 1	Respiratory insufficiency, Respiratory distress, Nocturnal hypoventilation, Death in childhood, D...	OMIM:211530
Congenital Disorder Of Glycosylation, Type Ie	Ankle flexion contracture, Small hand, Upper limb undergrowth, Respiratory distress, Knee flexion...	OMIM:608799
Geleophysic Dysplasia 3	Epiphyseal dysplasia, Pneumonia, Limited elbow movement, Respiratory failure, Brachydactyly, Dysp...	OMIM:617809
Arterial Tortuosity Syndrome	Rocker bottom foot, Cardiorespiratory arrest, Respiratory distress, Avascular necrosis of the cap...	ORPHA:3342
Tetrasomy 5P	Respiratory distress, Overlapping toe, Cyanosis, Short hallux, Long fingers, Clinodactyly of the ...	ORPHA:3309
Allergic Bronchopulmonary Aspergillosis	Emphysema, Bronchiectasis, Respiratory insufficiency	ORPHA:1164
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Exertional dyspnea, Cyanosis	OMIM:250800
Pontocerebellar Hypoplasia Type 1	Arthrogryposis multiplex congenita, Respiratory failure	ORPHA:2254
Peroxisome Biogenesis Disorder 4A (Zellweger)	Epiphyseal stippling, Respiratory failure, Death in infancy	OMIM:614862
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Tachypnea, Respiratory failure, Death in childhood	OMIM:615838
Moebius Syndrome	Abnormal pelvic girdle bone morphology, Clinodactyly, Radial deviation of finger, Respiratory dis...	OMIM:157900
Myasthenic Syndrome, Congenital, 21, Presynaptic	Apnea, Cyanosis, Knee flexion contracture, Respiratory insufficiency	OMIM:617239
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Ankle flexion contracture, Knee flexion contracture, Cyanotic episode, Limb joint contracture, Cr...	ORPHA:284417
Muscular Dystrophy, Congenital, With Or Without Seizures	Respiratory distress, Respiratory failure	OMIM:620166
Ciliary Dyskinesia, Primary, 29	Recurrent respiratory infections, Bronchiectasis, Atelectasis	OMIM:615872
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Flexion contracture, Respiratory failure, Death in infancy, Camptodactyly of finger	ORPHA:1194
Meckel Syndrome 14	Pulmonary hypoplasia, Postaxial foot polydactyly, Cardiorespiratory arrest, Cyanosis, Decreased c...	OMIM:619879
Multiple Mitochondrial Dysfunctions Syndrome 1	Neonatal death, Respiratory failure, Death in infancy, Respiratory insufficiency	OMIM:605711
Combined Oxidative Phosphorylation Deficiency 11	Death in childhood, Death in infancy, Neonatal death, Stillbirth, Respiratory failure	OMIM:614922
Female Restricted Epilepsy With Intellectual Disability	Abnormal eating behavior, Aggressive behavior, Hyperactivity, Compulsive behaviors, Impulsivity	ORPHA:101039
Alg1-Cdg	Limitation of joint mobility, Respiratory failure	ORPHA:79327
Mitochondrial Pyruvate Carrier Deficiency	Respiratory distress	OMIM:614741
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Delayed epiphyseal ossification, Abnormal epiphysis morphology, Respiratory distress, Prolonged n...	ORPHA:226313
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Respiratory insufficiency, Respiratory distress, Respiratory tract infection, Respiratory insuffi...	ORPHA:308552
Auriculocondylar Syndrome 2A	Respiratory distress, Apnea	OMIM:614669
Shwachman-Diamond Syndrome 1	Neonatal respiratory distress, Proximal femoral epiphysiolysis, Respiratory distress, Metaphyseal...	OMIM:260400
Severe Neurodegenerative Syndrome With Lipodystrophy	Respiratory failure, Reduced subcutaneous adipose tissue	ORPHA:363400
Aromatic L-Amino Acid Decarboxylase Deficiency	Blepharospasm, Oculogyric crisis, Limb dystonia, Lethargy, Tongue thrusting, Limb tremor, Tortico...	OMIM:608643
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Respiratory failure	ORPHA:70472
Isolated Right Ventricular Hypoplasia	Dyspnea, Cyanosis, Hypoxemia, Clubbing	ORPHA:439
Snakebite Envenomation	Erythema, Respiratory failure, Angioedema, Ecchymosis	ORPHA:449285
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Respiratory distress	ORPHA:240085
Cutis Laxa, Neonatal, With Marfanoid Phenotype	Arachnodactyly, Emphysema, Hip dislocation	OMIM:614100
Oculocerebrofacial Syndrome, Kaufman Type	Respiratory distress, Arachnodactyly, Dyspnea, Respiratory failure	ORPHA:2707
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Respiratory distress, Wrist hypermobility, Joint hypermobility, Hip dysplasia, Finger joint hyper...	ORPHA:544503
Nephronophthisis 2	Respiratory insufficiency, Respiratory failure, Pulmonary hypoplasia	OMIM:602088
Nipah Virus Disease	Respiratory distress, Recurrent pharyngitis	ORPHA:99825
Deafness-Lymphedema-Leukemia Syndrome	Recurrent respiratory infections, Bruising susceptibility, Respiratory failure	ORPHA:3226
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Dysplasia of the femoral head, Arachnodactyly, Radioulnar synostosis, Bowing of the long bones, O...	ORPHA:536467
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Respiratory distress, Death in childhood, Exertional dyspnea, Respiratory insufficiency due to mu...	OMIM:220110
Combined Oxidative Phosphorylation Deficiency 4	Respiratory failure, Death in infancy	OMIM:610678
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Tapered toe, Neonatal respiratory distress, Respiratory insufficiency, Elbow flexion contracture,...	OMIM:608836
Citrullinemia Type Ii	Hypoalbuminemia, Decreased HDL cholesterol concentration, Abnormal eating behavior, Hyperlipidemi...	ORPHA:247585
Congenital Myopathy 10B, Mild Variant	Recurrent pneumonia, Achilles tendon contracture, Respiratory failure, Elbow contracture	OMIM:620249
X-Linked Creatine Transporter Deficiency	Self-mutilation, Hyperactivity, Abnormal circulating creatine concentration, Ataxia, Dystonia, At...	ORPHA:52503
Riddle Syndrome	Pneumonia, Neonatal asphyxia, Recurrent pneumonia, Erythema, Bronchitis, Recurrent sinusitis, Tel...	ORPHA:420741
Idiopathic Neonatal Atrial Flutter	Respiratory distress, Tachypnea	ORPHA:45452
Buerger Disease	Livedo reticularis, Acrocyanosis	ORPHA:36258
Gm2 Gangliosidosis, Ab Variant	Abnormal fear-induced behavior, Dystonia, Inappropriate behavior, Exaggerated startle response	ORPHA:309246
Congenital Disorder Of Glycosylation, Type Ix	Respiratory distress, Death in childhood	OMIM:615597
Laryngeal Abductor Paralysis	Cyanosis	OMIM:150260
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Flexion contracture, Respiratory failure, Tapered finger	OMIM:616505
Bronchogenic Cyst	Pneumonia, Pulmonary cyst, Bronchogenic cyst, Atelectasis, Abnormal pleura morphology, Dyspnea	ORPHA:2357
Congenital Heart Block	Pleural effusion, Cyanosis	ORPHA:60041
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Truncal titubation, Gait ataxia, Dysmetria, Tremor, Exaggerated startle response, Agitation	OMIM:618056
Sandestig-Stefanova Syndrome	Camptodactyly, Respiratory failure, Rocker bottom foot, Clinodactyly	OMIM:618804
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Respiratory failure	OMIM:613954
Folinic Acid-Responsive Seizures	Respiratory distress, Apnea	ORPHA:79097
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Respiratory distress	OMIM:612075
Hereditary Motor And Sensory Neuropathy, Type Iic	Respiratory failure, Intercostal muscle weakness, Hammertoe, Down-sloping shoulders	OMIM:606071
Thoracic Dysplasia-Hydrocephalus Syndrome	Abnormal metaphysis morphology, Respiratory failure	ORPHA:1861
Anaplastic Thyroid Carcinoma	Respiratory distress, Dyspnea, Neoplasm of the lung	ORPHA:142
Congenital Multicore Myopathy With External Ophthalmoplegia	Pneumonia, Recurrent respiratory infections, Joint hypermobility, Flexion contracture, Respirator...	ORPHA:98905
Encephalopathy, Ethylmalonic	Acrocyanosis, Petechiae, Death in infancy	OMIM:602473
3-Methylglutaconic Aciduria, Type Viii	Hypopnea, Apnea, Death in infancy, Neonatal death, Respiratory arrest, Jaundice, Respiratory failure	OMIM:617248
Lethal Congenital Contracture Syndrome 2	Arthrogryposis multiplex congenita, Respiratory failure	OMIM:607598
Meier-Gorlin Syndrome 1	Thin ribs, Joint contracture of the hand, Small hand, Cutaneous finger syndactyly, Genu valgum, P...	OMIM:224690
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Joint contracture of the 5th finger, Long fingers, Clinodactyly of the 5th finger, Acrocyanosis, ...	OMIM:614407
Lethal Acantholytic Erosive Disorder	Camptodactyly of toe, 2-3 finger syndactyly, 4-5 finger syndactyly, Fragile skin, Clinodactyly of...	ORPHA:158687
Peripartum Cardiomyopathy	Paroxysmal dyspnea, Exertional dyspnea, Orthopnea, Dyspnea, Respiratory failure	ORPHA:563
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Respiratory distress, Flexion contracture, Generalized abnormality of skin, Respiratory insuffici...	ORPHA:367
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Respiratory distress, Dyspnea	ORPHA:86812
Congenital Laryngeal Web	Respiratory distress	ORPHA:2374
Carnitine-Acylcarnitine Translocase Deficiency	Cyanosis, Sudden episodic apnea, Respiratory insufficiency	ORPHA:159
Lissencephaly Syndrome, Norman-Roberts Type	Respiratory distress, Rocker bottom foot, Adducted thumb	ORPHA:89844
Progressive Supranuclear Palsy-Corticobasal Syndrome	Respiratory distress	ORPHA:240103
Cleft Larynx, Posterior	Cyanosis	OMIM:215800
Ciliary Dyskinesia, Primary, 2	Respiratory distress, Recurrent respiratory infections, Bronchiectasis	OMIM:606763
Congenitally Uncorrected Transposition Of The Great Arteries	Cyanosis, Tachypnea, Hypoxemia, Anomalous pulmonary venous return	ORPHA:860
Farber Disease	Recurrent upper respiratory tract infections, Short toe, Atelectasis, Short finger, Respiratory d...	ORPHA:333
Neurodegeneration With Brain Iron Accumulation 2B	Gait ataxia, Intention tremor, Dysmetria, Dystonia, Hyperactivity, Bradykinesia, Dysphagia, Dysdi...	OMIM:610217
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Apnea, Cyanosis	OMIM:261680
Congenital Fibrinogen Deficiency	Subcutaneous hemorrhage, Cyanosis, Bruising susceptibility, Clubbing of fingers	ORPHA:335
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Recurrent pneumonia, Aspiration pneumonia, Respiratory distress, Apnea, Hypoventilation, Polydactyly	ORPHA:314655
Cleidocranial Dysplasia 1	Aplastic clavicle, Hypoplastic scapulae, Neonatal respiratory distress, Cervical ribs, Respirator...	OMIM:119600
Synaptic Congenital Myasthenic Syndromes	Neonatal respiratory distress, Respiratory insufficiency, Respiratory distress, Hypoventilation, ...	ORPHA:98915
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Atelectasis, Respiratory insufficiency, Hypoventilation, Intercostal muscle weakness, Recurrent l...	ORPHA:258
Hereditary Bullous Dystrophy, Macular Type	Pneumonia, Tapered finger, Acrocyanosis, Short finger	ORPHA:1867
Atrial Septal Defect, Ostium Primum Type	Clubbing of toes, Pulmonary artery dilatation, Cyanosis, Tachypnea, Exertional dyspnea, Dyspnea, ...	ORPHA:99106
Glycogen Storage Disease Due To Acid Maltase Deficiency	Atelectasis, Respiratory insufficiency, Respiratory distress, Respiratory tract infection, Exerti...	ORPHA:365
Tularemia	Respiratory distress, Pneumonia, Pleural effusion	ORPHA:3392
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Bradypnea, Respiratory failure, Death in childhood	OMIM:617186
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Broad-based gait, Inappropriate laughter, Abnormal eating behavior, Recurrent hand flapping, Gait...	ORPHA:98794
Hyperparathyroidism, Transient Neonatal	Thin ribs, Osteopenia, Fractured rib, Metaphyseal spurs, Respiratory distress, Femoral bowing, Un...	OMIM:618188
Congenital Tracheal Stenosis	Neonatal asphyxia, Abnormal lung lobation, Respiratory distress, Anomalous origin of left pulmona...	ORPHA:141127
Dravet Syndrome	Limited knee extension, Cyanotic episode, Tibial torsion	ORPHA:33069
Developmental And Epileptic Encephalopathy 68	Respiratory distress, Flexion contracture	OMIM:618201
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Inability to walk, Exaggerated startle response	OMIM:609541
Multiple Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Neonatal death, Jaundice, Pulmonary hypoplasia	OMIM:231680
Boutonneuse Fever	Petechiae, Respiratory failure	ORPHA:83313
Campomelic Dysplasia	Thin ribs, Delayed epiphyseal ossification, Hypoplastic scapulae, Shortening of all phalanges of ...	OMIM:114290
Brain-Lung-Thyroid Syndrome	Recurrent pneumonia, Neonatal respiratory distress, Respiratory distress, Abnormal pulmonary inte...	ORPHA:209905
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hyponatremia, Reduced blood urea nitrogen, Decreased serum creatinine, Decreased circulating reni...	OMIM:300539
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Overlapping toe, Joint hypermobility, Wrist flexion contracture, Flexion contracture of finger, L...	ORPHA:254528
Pfeiffer Syndrome Type 2	Deviation of the thumb, Small hand, Toe syndactyly, Limitation of joint mobility, Finger syndacty...	ORPHA:93259
Ear-Patella-Short Stature Syndrome	Aplastic clavicle, Abnormal epiphysis morphology, Slender long bone, Camptodactyly of finger, Res...	ORPHA:2554
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy	Decreased circulating renin level	OMIM:605115
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Atelectasis, Respiratory insufficiency, Death in childhood, Tachypnea, Recurrent respiratory infe...	OMIM:618278
Mucopolysaccharidosis-Plus Syndrome	Recurrent pneumonia, Recurrent respiratory infections, Respiratory distress, Acetabular dysplasia...	OMIM:617303
Pitt-Hopkins-Like Syndrome 1	Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivity, Ataxia, Motor stere...	OMIM:610042
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Recurrent respiratory infections, Respiratory distress, Overlapping toe, Overlapping fingers, Fle...	OMIM:619383
Tarp Syndrome	Finger syndactyly, Clinodactyly, Hypoplasia of proximal radius, Apnea, Cyanosis, Postaxial polyda...	ORPHA:2886
Gaucher Disease, Perinatal Lethal	Respiratory distress, Apnea, Petechiae, Neonatal death, Purpura, Arthrogryposis multiplex congeni...	OMIM:608013
Congenital Fiber-Type Disproportion Myopathy	Ankle flexion contracture, Congenital hip dislocation, Recurrent respiratory infections, Aspirati...	ORPHA:2020
Agnathia-Otocephaly Complex	Respiratory distress, Tracheomalacia, Pulmonary hypoplasia	OMIM:202650
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	2-3 toe syndactyly, Clubbing of toes, Cyanosis, Clubbing of fingers	ORPHA:3304
Congenital Disorder Of Glycosylation, Type Ig	Recurrent upper respiratory tract infections, Recurrent pneumonia, Short tibia, Sandal gap, Respi...	OMIM:607143
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Respiratory distress, Broad ribs, Short ribs, Abnormal rib morphology, Postaxial hand polydactyly	ORPHA:2519
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Respiratory distress, Osteopenia, Recurrent respiratory infections, Contractures of the large joints	ORPHA:329178
Epidermodysplasia Verruciformis, Susceptibility To, 4	Emphysema, Facial erythema	OMIM:618307
Multiple Mitochondrial Dysfunctions Syndrome 7	Hypernatremia, Hyperglycinemia, Agitation, Lethargy, Hyperactivity, Exaggerated startle response,...	OMIM:620423
Osteopetrosis, Autosomal Recessive 5	Stillbirth, Cranial hyperostosis, Flared metaphysis, Osteopetrosis, Decreased osteoclast count, I...	OMIM:259720
Spastic Tetraplegia And Axial Hypotonia, Progressive	Exaggerated startle response, Ataxia	OMIM:618598
Spinocerebellar Ataxia Type 1	Respiratory failure	ORPHA:98755
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Inability to walk, Exaggerated startle response	OMIM:620114
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Respiratory distress	ORPHA:261304
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Respiratory distress, Death in infancy, Irregular respiration	OMIM:604377
Double Outlet Right Ventricle	Pulmonary artery atresia, Tachypnea, Cyanosis	ORPHA:3426
Criss-Cross Heart	Cyanosis, Respiratory insufficiency	ORPHA:1461
Craniofaciofrontodigital Syndrome	Osteopenia, Premature skin wrinkling, Respiratory distress, Joint hypermobility, Palmoplantar cut...	ORPHA:363705
Sepsis In Premature Infants	Petechiae, Cyanosis, Dyspnea, Jaundice, Nasal flaring, Purpura	ORPHA:90051
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Difficulty walking, Exaggerated startle response	ORPHA:320406
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency	Osteopenia, Atelectasis, Generalized abnormality of skin, Osteomyelitis, Joint hypermobility, Cra...	ORPHA:2314
Multiple Acyl-Coa Dehydrogenase Deficiency	Dyspnea, Cardiorespiratory arrest, Respiratory failure	ORPHA:26791
Thyroid Lymphoma	Respiratory distress, Dyspnea	ORPHA:97285
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Congenital hip dislocation, Recurrent pneumonia, Fractures of the long bones, Arthrogryposis mult...	ORPHA:496641
Kallmann Syndrome-Heart Disease Syndrome	Osteoporosis, Osteopenia, Pulmonary artery hypoplasia, Cyanosis	ORPHA:2326
Nocardiosis	Pneumonia, Respiratory distress, Osteomyelitis, Emphysema, Pleural effusion, Pneumothorax, Dyspne...	ORPHA:31204
Hsd10 Disease, Infantile Type	Cyanosis	ORPHA:391428
Alfadhel Syndrome	Nasal flaring, Joint hypermobility	OMIM:620655
Spondyloepiphyseal Dysplasia Congenita	Respiratory distress, Limited hip movement, Delayed pubic bone ossification, Limited elbow moveme...	OMIM:183900
Poems Syndrome	Sclerosis of foot bone, Sclerosis of hand bone, Metaphyseal sclerosis, Sclerosis of skull base, P...	ORPHA:2905
Ulbright-Hodes Syndrome	Thin ribs, Pulmonary hypoplasia, Abnormal forearm bone morphology, Respiratory distress, Fibular ...	ORPHA:3404
Hyperaldosteronism, Familial, Type Iii	Hypokalemia, Polydipsia, Decreased circulating renin level	OMIM:613677
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Hypoplastic scapulae, Abnormality of the costochondral junction, Short tibia, Thumb contracture, ...	ORPHA:96334
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Neonatal respiratory distress, Tracheomalacia, Clinodactyly, Respiratory distress, Brachydactyly,...	OMIM:217980
Mhc Class I Deficiency 1	Emphysema, Bronchiectasis, Bronchiolitis, Recurrent bronchitis	OMIM:604571
Joubert Syndrome 21	Apnea, Short ribs, Dyspnea, Respiratory failure, Pulmonary hypoplasia	OMIM:615636
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Respiratory distress	ORPHA:289916
Eosinophilic Granulomatosis With Polyangiitis	Respiratory insufficiency, Cutis marmorata, Abnormal pleura morphology, Purpura, Arthritis, Acroc...	ORPHA:183
Birt-Hogg-Dubé Syndrome	Emphysema, Pneumothorax, Pulmonary sequestration	ORPHA:122
Liddle Syndrome 2	Hypokalemia, Decreased circulating renin level	OMIM:618114
Liddle Syndrome 3	Hypokalemia, Decreased circulating renin level	OMIM:618126
Hyperimmunoglobulinemia D With Periodic Fever	Erythema, Limitation of joint mobility, Purpura, Arthritis, Acrocyanosis, Urticaria	ORPHA:343
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Osteopenia, Aplastic clavicle, Bifid femur, Rickets, Broad distal phalanx of finger, Osteomalacia...	ORPHA:2636
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Respiratory failure, Death in childhood	OMIM:619847
Fanconi Renotubular Syndrome 5	Emphysema, Genu valgum, Hypophosphatemic rickets, Lung adenocarcinoma, Pulmonary fibrosis	OMIM:618913
Congenital Myopathy 22B, Severe Fetal	Thin ribs, Tapered toe, Shoulder flexion contracture, Slender long bone, Respiratory distress, El...	OMIM:620369
Pfeiffer Syndrome Type 3	Small hand, Toe syndactyly, Limitation of joint mobility, Finger syndactyly, Broad thumb, Tracheo...	ORPHA:93260
Combined Oxidative Phosphorylation Deficiency 3	Respiratory insufficiency, Death in childhood, Death in infancy, Dyspnea, Respiratory failure	OMIM:610505
Rajab Interstitial Lung Disease With Brain Calcifications 1	Osteopenia, Rickets, Respiratory insufficiency, Emphysema, Joint hypermobility, Tachypnea, Thin b...	OMIM:613658
Amyotrophic Lateral Sclerosis	Dyspnea, Respiratory failure	ORPHA:803
Short-Rib Thoracic Dysplasia 12	Hypoplastic scapulae, Pulmonary hypoplasia, Short toe, Atelectasis, Short finger, Respiratory ins...	OMIM:269860
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
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Respiratory distress	ORPHA:79312
Stt3B-Cdg	Respiratory distress	ORPHA:370924
Absence Of The Pulmonary Artery	Recurrent pneumonia, Cyanosis, Pulmonary edema, Hypocapnia, Orthopnea, Dyspnea, Recurrent respira...	ORPHA:980
Eosinophilic Fasciitis	Acrocyanosis, Arthritis	ORPHA:3165
Tay-Sachs Disease	Increased serum beta-hexosaminidase, Laryngeal dystonia, Inability to walk, Dysmetria, Tremor, Ga...	ORPHA:845
Otopalatodigital Syndrome, Type Ii	Broad thumb, Toe syndactyly, Radial bowing, Rudimentary fibula, Overlapping fingers, Radial devia...	OMIM:304120
Infantile Krabbe Disease	Respiratory distress, Respiratory failure	ORPHA:206436
Tetanus	Respiratory distress, Tachypnea, Stiff neck	ORPHA:3299
Ethylene Glycol Poisoning	Abnormal pattern of respiration, Cyanosis, Episodic respiratory distress, Pulmonary edema, Tachypnea	ORPHA:31826
Bickerstaff Brainstem Encephalitis	Pneumonia, Respiratory tract infection, Dyspnea, Respiratory failure, Hypercapnia, Respiratory fa...	ORPHA:79138
Fructose-1,6-Bisphosphatase Deficiency	Respiratory distress, Episodic tachypnea, Intermittent hyperventilation, Apneic episodes in infan...	ORPHA:348
Osteoglophonic Dysplasia	Osteopenia, Hypoplastic scapulae, Broad thumb, Short thumb, Camptodactyly of finger, Respiratory ...	OMIM:166250
Atrial Septal Defect, Coronary Sinus Type	Pneumonia, Cyanosis, Exertional dyspnea, Dyspnea, Anomalous pulmonary venous return	ORPHA:99104
Ethylmalonic Encephalopathy	Acrocyanosis, Petechiae	ORPHA:51188
Neurodegeneration And Seizures Due To Copper Transport Defect	Short tibia, Respiratory distress, Pneumothorax, Short femur, Pulmonary hypoplasia	OMIM:620306
3-Methylglutaconic Aciduria Type 7	Pneumothorax, Respiratory failure	ORPHA:445038
Esophageal Atresia	Clinodactyly, Bronchitis, Recurrent respiratory infections, Respiratory distress, Cyanosis, Episo...	ORPHA:1199
Stüve-Wiedemann Syndrome	Osteopenia, Limitation of joint mobility, Camptodactyly of finger, Respiratory distress, Elbow fl...	ORPHA:3206
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Pneumonia, Respiratory distress, Episodic tachypnea, Tachypnea, Jaundice	ORPHA:26793
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Apnea, Cyanosis	OMIM:619580
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Respiratory failure, Respiratory insufficiency	OMIM:613845
Hyperekplexia-Epilepsy Syndrome	Exaggerated startle response	ORPHA:163985
Leukodystrophy, Hypomyelinating, 13	Exaggerated startle response, Ataxia	OMIM:616881
Liddle Syndrome 1	Hypokalemia, Decreased circulating renin level	OMIM:177200
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Hypokalemia, Hyperactivity, Self-biting, Hypomagnesemia	OMIM:618314
Mitochondrial Complex I Deficiency, Nuclear Type 1	Respiratory insufficiency, Apnea, Cyanosis, Death in infancy, Respiratory failure	OMIM:252010
Listeriosis	Pneumonia, Respiratory distress, Osteomyelitis, Stiff neck, Septic arthritis, Jaundice, Respirato...	ORPHA:533
Complete Atrioventricular Septal Defect	Cyanosis, Tachypnea, Intercostal retractions, Recurrent pneumonia	ORPHA:1329
Inhalational Anthrax	Respiratory distress, Dyspnea	ORPHA:247257
Hypoglossia With Situs Inversus	Respiratory distress	OMIM:612776
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Emphysema, Osteopenia, Pulmonary fibrosis, Premature graying of hair	OMIM:620365
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Abnormal pulmonary interstitial morphology, Atelectasis, Pleural effusion, Exertional dyspnea, Dy...	OMIM:620233
Holocarboxylase Synthetase Deficiency	Respiratory distress, Tachypnea	ORPHA:79242
Glycogen Storage Disease Of Heart, Lethal Congenital	Respiratory distress, Apnea, Pleural effusion, Cyanosis, Pulmonary edema	OMIM:261740
Microlissencephaly-Micromelia Syndrome	Respiratory distress, 11 pairs of ribs, Adducted thumb	ORPHA:50810
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Respiratory distress	ORPHA:927
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Hypokalemia, Athetosis, Decreased circulating renin level	OMIM:615474
Pseudohypoaldosteronism, Type Iic	Hyperchloremia, Hyperkalemia, Decreased circulating renin level	OMIM:614492
Myhre Syndrome	Cone-shaped epiphysis, Limitation of joint mobility, Short toe, Clinodactyly, Short finger, Radia...	OMIM:139210
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Limb joint contracture, Respiratory failure	OMIM:620327
Necrotizing Enterocolitis	Apnea, Cyanosis	ORPHA:391673
Carnitine Deficiency, Systemic Primary	Respiratory distress	OMIM:212140
Rodrigues Blindness	Nasal flaring, Ectodermal dysplasia	OMIM:268320
Hyperaldosteronism, Familial, Type I	Decreased circulating renin level	OMIM:103900
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Small hand, Respiratory distress, Joint hypermobility, Postaxial polydactyly, Hip dysplasia, Recu...	OMIM:300968
Chiari Malformation Type Ii	Cyanosis	OMIM:207950
Episodic Ataxia Type 1	Respiratory distress	ORPHA:37612
Isolated Atp Synthase Deficiency	Respiratory distress	ORPHA:254913
Methemoglobinemia And Ambiguous Genitalia	Cyanosis	OMIM:250790
Mitochondrial Trifunctional Protein Deficiency 1	Respiratory failure, Respiratory insufficiency	OMIM:609015
Structural Heart Defects And Renal Anomalies Syndrome	Partial anomalous pulmonary venous return, Overlapping toe, Cyanosis, Death in infancy	OMIM:617478
Bacterial Toxic-Shock Syndrome	Pneumonia, Respiratory distress, Osteomyelitis, Respiratory tract infection, Ecchymosis, Tachypne...	ORPHA:36234
Lymphatic Malformation 7	Respiratory distress, Pulmonary edema, Chylothorax, Pleural effusion	OMIM:617300
Hypocomplementemic Urticarial Vasculitis	Angioedema, Emphysema, Pleural effusion, Arthritis, Dyspnea	ORPHA:36412
Neurodegeneration With Brain Iron Accumulation 1	Phonic tics, Blepharospasm, Akinesia, Obsessive-compulsive trait, Tremor, Dystonia, Motor tics, G...	OMIM:234200
Mitochondrial Trifunctional Protein Deficiency	Equinus calcaneus, Respiratory failure, Respiratory insufficiency	ORPHA:746
Cutis Laxa, Autosomal Dominant 1	Peripheral pulmonary artery stenosis, Poor wound healing, Progeroid facial appearance, Emphysema,...	OMIM:123700
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Dystonia, Broad-based gait, Exaggerated startle response, Ataxia	ORPHA:438216
Cardiogenic Shock	Dyspnea, Cyanosis, Orthopnea, Hypoxemia	ORPHA:97292
N-Acetylglutamate Synthase Deficiency	Respiratory distress, Tachypnea	OMIM:237310
Telangiectasia, Hereditary Hemorrhagic, Type 1	Tongue telangiectasia, Nail bed telangiectasia, Pulmonary hemorrhage, Hemothorax, Nasal mucosa te...	OMIM:187300
Severe Generalized Junctional Epidermolysis Bullosa	Pneumonia, Abnormal fingertip morphology, Respiratory distress, Pneumothorax, Fragile skin, Dyspn...	ORPHA:79404
Mogs-Cdg	Respiratory distress, Overlapping fingers, Apnea, Hypoventilation, Pulmonary edema	ORPHA:79330
Scimitar Syndrome	Pulmonary artery hypoplasia, Bronchogenic cyst, Respiratory distress, Pneumothorax, Partial anoma...	ORPHA:185
Malignant Atrophic Papulosis	Telangiectasia of the skin, Pleural effusion, Respiratory failure	ORPHA:679
Atrial Septal Defect, Ostium Secundum Type	Pneumonia, Cyanosis, Exertional dyspnea, Orthopnea, Dyspnea	ORPHA:99103
Hemorrhagic Fever-Renal Syndrome	Pneumonia, Respiratory distress, Pleural effusion, Petechiae, Ecchymosis, Pulmonary edema, Dyspne...	ORPHA:340
Cutis Laxa, Autosomal Recessive, Type Ic	Osteopenia, Peripheral pulmonary artery stenosis, Recurrent pneumonia, Sandal gap, Tracheomalacia...	OMIM:613177
Myotonic Dystrophy 1	Respiratory distress	OMIM:160900
Primary Unilateral Adrenal Hyperplasia	Hypokalemia, Polydipsia, Decreased circulating renin level	ORPHA:231580
Apparent Mineralocorticoid Excess	Hypokalemia, Decreased circulating renin level	OMIM:218030
Leigh Syndrome	Respiratory failure, Multiple joint contractures, Abnormal pattern of respiration	ORPHA:506
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Genu valgum, Cyanosis	ORPHA:488627
Cryptococcosis	Pneumonia, Respiratory distress, Osteomyelitis, Nodular pattern on pulmonary HRCT, Pleural effusi...	ORPHA:1546
Combined Oxidative Phosphorylation Deficiency 58	Ataxia, Difficulty walking, Gait ataxia, Hyperprolinemia, Hyperalaninemia, Exaggerated startle re...	OMIM:620451
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome	Respiratory failure	ORPHA:3240
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Inability to walk, Exaggerated startle response	OMIM:617864
Poliomyelitis	Stiff neck, Respiratory failure, Respiratory failure requiring assisted ventilation	ORPHA:2912
Cardiomyopathy, Familial Hypertrophic, 4	Respiratory distress, Pulmonary edema, Dyspnea	OMIM:115197
Nasolacrimal Duct Cyst	Intercostal retractions, Paroxysmal dyspnea, Episodic respiratory distress	ORPHA:141083
Myasthenia Gravis	Dyspnea, Rheumatoid arthritis, Acrocyanosis	ORPHA:589
Apparent Mineralocorticoid Excess	Hypokalemia, Polydipsia, Decreased circulating renin level	ORPHA:320
Mandibulofacial Dysostosis, Guion-Almeida Type	Respiratory distress, Slender finger, Proximal placement of thumb, Preaxial hand polydactyly	OMIM:610536
Bloom Syndrome	Pneumonia, Bronchitis, Respiratory tract infection, Telangiectasia, Cutaneous photosensitivity, R...	ORPHA:125
S-Adenosylhomocysteine Hydrolase Deficiency	Respiratory failure	ORPHA:88618
Truncus Arteriosus	Aplasia/hypoplasia involving bones of the extremities, Pulmonary artery hypoplasia, Abnormal lung...	ORPHA:3384
Lujo Hemorrhagic Fever	Atelectasis, Respiratory distress, Stiff neck, Ecchymosis, Purpura	ORPHA:319213
Pelizaeus-Merzbacher Disease, Connatal Form	Respiratory failure	ORPHA:280210
Histidinemia	Hyperactivity, Hyperhistidinemia	ORPHA:2157
Congenital Total Pulmonary Venous Return Anomaly	Mixed total anomalous pulmonary venous connection, Paroxysmal dyspnea, Respiratory distress, Resp...	ORPHA:99125
Chromosome 6Q24-Q25 Deletion Syndrome	Respiratory distress, Sandal gap, Small hand, Prominent fingertip pads	OMIM:612863
Developmental And Epileptic Encephalopathy 8	Exaggerated startle response	OMIM:300607
Combined Oxidative Phosphorylation Deficiency 37	Respiratory failure, Respiratory insufficiency	OMIM:618329
Thrombotic Thrombocytopenic Purpura, Hereditary	Respiratory distress, Jaundice, Prolonged neonatal jaundice	OMIM:274150
Double Outlet Left Ventricle	Pulmonary artery stenosis, Tachypnea, Cyanosis	ORPHA:3427
Goodpasture Syndrome	Reticular pattern on pulmonary HRCT, Pulmonary hemorrhage, Nodular pattern on pulmonary HRCT, Cya...	OMIM:233450
3-Methylglutaconic Aciduria, Type Viib	Respiratory distress, Flexion contracture, Recurrent pneumonia	OMIM:616271
Acquired Purpura Fulminans	Acrocyanosis, Macular purpura	ORPHA:49566
Aicardi-Goutieres Syndrome 1	Erythema, Petechiae, Purpura, Prolonged neonatal jaundice, Acrocyanosis	OMIM:225750
Familial Dysautonomia	Osteolysis, Abnormal pleura morphology, Recurrent respiratory infections, Acrocyanosis, Recurrent...	ORPHA:1764
Idiopathic Hypereosinophilic Syndrome	Angioedema, Swelling of proximal interphalangeal joints, Respiratory distress, Cutis marmorata, P...	ORPHA:3260
Heterotaxy, Visceral, 7, Autosomal	Pulmonary artery atresia, Pulmonary artery hypoplasia, Total anomalous pulmonary venous return, C...	OMIM:616749
Alpha-1-Antitrypsin Deficiency	Emphysema, Jaundice, Bronchiectasis, Bronchitis	ORPHA:60
Hereditary Angioedema Type 1	Respiratory distress, Dyspnea, Dermatographic urticaria, Urticaria	ORPHA:100050
Q Fever	Pneumonia, Respiratory distress, Osteomyelitis, Pleural effusion, Abnormal pulmonary interstitial...	ORPHA:781
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification	Emphysema	OMIM:210050
Mitochondrial Complex I Deficiency, Nuclear Type 37	Respiratory distress	OMIM:619272
Hyperekplexia 2	Exaggerated startle response	OMIM:614619
Telangiectasia, Hereditary Hemorrhagic, Type 4	Tongue telangiectasia, Nasal mucosa telangiectasia, Cyanosis, Lip telangiectasia, Pulmonary arter...	OMIM:610655
Choreoacanthocytosis	Resting tremor, Limb dystonia, Hair-pulling, Loss of ambulation, Lingual dystonia, Bradykinesia, ...	ORPHA:2388
Congenital Enterovirus Infection	Respiratory distress, Pleural effusion	ORPHA:292
Japanese Encephalitis	Abnormal pattern of respiration, Respiratory distress, Elbow flexion contracture, Stiff neck, Pul...	ORPHA:79139
Primary Dystonia, Dyt4 Type	Respiratory distress	ORPHA:98805
Aortic Arch Interruption	Respiratory distress, Cyanosis, Tachypnea, Aortopulmonary window, Exertional dyspnea	ORPHA:2299
Telangiectasia, Hereditary Hemorrhagic, Type 2	Oral cavity telangiectasia, Palmar telangiectasia, Tongue telangiectasia, Nail bed telangiectasia...	OMIM:600376
Hyperekplexia 3	Exaggerated startle response	OMIM:614618
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Respiratory distress	OMIM:606164
Combined Oxidative Phosphorylation Deficiency 19	Respiratory distress	OMIM:615595
Heterotaxy, Visceral, 1, X-Linked	Congenital hip dislocation, Block vertebrae, Total anomalous pulmonary venous return, Respiratory...	OMIM:306955
Beare-Stevenson Cutis Gyrata Syndrome	Respiratory distress, Overlapping toe, Limited elbow extension, Palmoplantar cutis laxa, Craniosy...	OMIM:123790
Oromandibular Dystonia	Respiratory distress	ORPHA:93958
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Recurrent upper respiratory tract infections, Cardiorespiratory arrest, Central hypoventilation, ...	ORPHA:293987
Hutchinson-Gilford Progeria Syndrome	Limitation of joint mobility, Limited wrist movement, Generalized abnormality of skin, Limited hi...	ORPHA:740
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Pneumonia, Respiratory distress, Osteomyelitis, Interstitial pneumonitis, Recurrent respiratory i...	ORPHA:37042
Unilateral Polymicrogyria	Apnea, Cyanosis, Pulmonary arteriovenous malformation	ORPHA:268943
Cardiac Valvular Dysplasia 2	Pulmonary artery dilatation, Central cyanosis	OMIM:620067
Tuberous Sclerosis Complex	Generalized abnormality of skin, Respiratory distress, Pulmonary lymphangiomyomatosis, Respirator...	ORPHA:805
Mgat2-Cdg	Respiratory distress, Osteopenia, Brachydactyly, Recurrent upper and lower respiratory tract infe...	ORPHA:79329
Nijmegen Breakage Syndrome	Recurrent pneumonia, Recurrent sinopulmonary infections, Recurrent respiratory infections, Cutane...	ORPHA:647
Prader-Willi Syndrome Due To Translocation	Small hand, Clinodactyly, Respiratory distress, Overlapping toe, Clinodactyly of the 4th finger, ...	ORPHA:177907
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Respiratory distress	OMIM:251000
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Erythema, Neonatal respiratory distress, Respiratory distress, Fragile skin, Abnormal pulmonary i...	OMIM:614748
Adnp Syndrome	Recurrent upper respiratory tract infections, Broad thumb, Sandal gap, Broad hallux, Respiratory ...	ORPHA:404448
Coccidioidomycosis	Pneumonia, Respiratory distress, Osteomyelitis, Broad ribs, Exudative pleural effusion, Abnormal ...	ORPHA:228123
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Respiratory distress, Craniosynostosis	ORPHA:1555
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Respiratory failure	OMIM:616538
Mitochondrial Complex I Deficiency, Nuclear Type 32	Respiratory failure, Death in childhood	OMIM:618252
Sarcoidosis, Susceptibility To, 1	Bronchiectasis, Emphysema, Hypoxemia, Pleural effusion, Bone cyst, Arthritis, Dyspnea, Abnormal p...	OMIM:181000
Pitt-Hopkins Syndrome	Small hand, Finger clinodactyly, Abnormal pattern of respiration, Broad fingertip, Hyperventilati...	ORPHA:2896
Histiocytoid Cardiomyopathy	Pulmonary edema, Tachypnea, Cyanosis	ORPHA:137675
Stiff-Person Syndrome	Opisthotonus, Exaggerated startle response	OMIM:184850
Ectopic Aldosterone-Producing Tumor	Hypokalemia, Decreased circulating renin level	ORPHA:231632
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Recurrent respiratory infections, Respiratory distress, Apnea, Short humerus, Polydactyly, Flexio...	ORPHA:17
Developmental And Epileptic Encephalopathy 49	Hyperactivity, Exaggerated startle response	OMIM:617281
Neuromuscular Oculoauditory Syndrome	Respiratory distress, Wrist flexion contracture, Knee flexion contracture	OMIM:618733
Sandhoff Disease	Exaggerated startle response, Ataxia	OMIM:268800
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Respiratory distress	ORPHA:990
Toxic Epidermal Necrolysis	Respiratory distress, Erythema, Abnormal pleura morphology, Recurrent respiratory infections	ORPHA:537
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Elbow flexion contracture, Knee flexion contracture, Hip contracture, Death in infancy, Flexion c...	OMIM:300868
Ciliary Dyskinesia, Primary, 1	Pneumonia, Bronchiectasis, Recurrent bronchitis, Atelectasis	OMIM:244400
Autosomal Recessive Polycystic Kidney Disease	Spontaneous pneumothorax, Recurrent pneumonia, Hypoventilation, Jaundice, Respiratory failure, Pu...	ORPHA:731
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Cone-shaped epiphysis, Respiratory distress, Horizontal ribs, Short ribs, Postaxial polydactyly, ...	OMIM:617088
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Painless fractures due to injury, Respiratory distress, Increased susceptibility to fractures, Pr...	OMIM:256810
Cutis Laxa, Autosomal Recessive, Type Ia	Peripheral pulmonary artery stenosis, Poor wound healing, Emphysema, Joint hypermobility, Arachno...	OMIM:219100
Diamond-Blackfan Anemia 10	Respiratory distress, Supernumerary ribs	OMIM:613309
Dermatomyositis	Erythema, Shawl sign, V-sign, Respiratory insufficiency, Acrocyanosis, Lung adenocarcinoma, Facia...	ORPHA:221
Arboleda-Tham Syndrome	Recurrent aspiration pneumonia, Neonatal respiratory distress, Sandal gap, Enlarged proximal inte...	OMIM:616268
Lymphangioleiomyomatosis	Chylothorax, Atelectasis, Emphysema, Pulmonary lymphangiomyomatosis, Pneumothorax, Dyspnea, Recur...	ORPHA:538
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Respiratory distress, Jaundice, Death in infancy	OMIM:617156
Netherton Syndrome	Emphysema, Recurrent respiratory infections, Urticaria	ORPHA:634
Familial Gestational Hyperthyroidism	Hand tremor, Hyperactivity, Agitation	ORPHA:99819
Fucosidosis	Acrocyanosis, Vascular skin abnormality	ORPHA:349
Biotinidase Deficiency	Respiratory distress, Hyperventilation, Apnea	ORPHA:79241
Hyperekplexia 1	Exaggerated startle response	OMIM:149400
Tay-Sachs Disease	Exaggerated startle response	OMIM:272800
Neonatal Marfan Syndrome	Neonatal respiratory distress, Emphysema, Joint hypermobility, Arachnodactyly, Long toe, Adducted...	ORPHA:284979
Microphthalmia With Linear Skin Defects Syndrome	Respiratory distress, Erythema, Dyspnea, Respiratory failure	ORPHA:2556
Cocaine Intoxication	Diffuse alveolar hemorrhage, Respiratory distress, Pulmonary edema, Tachypnea, Pneumothorax, Hype...	ORPHA:90068
Ehlers-Danlos Syndrome, Vascular Type	Foot acroosteolysis, Hypermobility of interphalangeal joints, Diffuse alveolar hemorrhage, Sponta...	OMIM:130050
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Absent thumb, Slender long bone, Cervical ribs, Emphysema, Joint hypermobility, Rib fusion, Arach...	ORPHA:500150
Abetalipoproteinemia	Osteopenia, Respiratory failure	ORPHA:14
Keutel Syndrome	Short distal phalanx of finger, Peripheral pulmonary artery stenosis, Pulmonary artery hypoplasia...	OMIM:245150
Colchicine Poisoning	Respiratory distress, Cardiorespiratory arrest	ORPHA:31824
T-Cell Immunodeficiency With Thymic Aplasia	Emphysema, Recurrent pneumonia, Bronchiectasis, Recurrent bronchopulmonary infections	OMIM:242700
Neuroblastoma	Respiratory distress, Pathologic fracture	ORPHA:635
Gm2-Gangliosidosis, Ab Variant	Dystonia, Exaggerated startle response	OMIM:272750
Oculopharyngodistal Myopathy 1	Respiratory distress, Hypercapnia, Respiratory insufficiency due to muscle weakness	OMIM:164310
Ciliary Dyskinesia, Primary, 20	Recurrent pneumonia, Atelectasis, Recurrent sinusitis, Pulmonary artery stenosis, Respiratory ins...	OMIM:615067
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Exaggerated startle response	OMIM:608800
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Respiratory distress, Joint stiffness, Flexion contracture, Recurrent respiratory infections	ORPHA:505248
Pachyonychia Congenita	Respiratory distress	ORPHA:2309
Alternating Hemiplegia Of Childhood	Respiratory distress, Apnea, Flushing	ORPHA:2131
Relapsing Polychondritis	Erythema, Limitation of joint mobility, Atelectasis, Abnormal pattern of respiration, Arthritis, ...	ORPHA:728
Kasabach-Merritt Phenomenon	Respiratory distress, Purpura, Hypopnea, Petechiae	ORPHA:2330
Fabry Disease	Respiratory insufficiency, Emphysema, Abnormal femur morphology, Angiokeratoma, Conjunctival tela...	ORPHA:324
Sandhoff Disease, Infantile Form	Exaggerated startle response	ORPHA:309155
Schinzel-Giedion Syndrome	Short distal phalanx of finger, Recurrent pneumonia, Short 1st metacarpal, Respiratory distress, ...	ORPHA:798
Autosomal Recessive Cutis Laxa Type 1	Peripheral pulmonary artery stenosis, Recurrent pneumonia, Respiratory insufficiency, Pathologic ...	ORPHA:90349
Congenital Disorder Of Deglycosylation 1	Small hand, Respiratory distress, Osteoporosis, Recurrent respiratory infections, Short foot	OMIM:615273
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Hypokalemia, Decreased circulating renin level	ORPHA:231625
Costello Syndrome	Tracheomalacia, Respiratory insufficiency, Limited elbow movement, Pneumothorax, Achilles tendon ...	OMIM:218040
Rubinstein-Taybi Syndrome 1	Broad distal phalanx of finger, Broad thumb, Radial deviation of thumb terminal phalanx, Short th...	OMIM:180849
Niemann-Pick Disease Type C	Respiratory insufficiency, Aspiration pneumonia, Jaundice, Abnormal lung morphology, Respiratory ...	ORPHA:646
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Recurrent infections due to aspiration, Acrocyanosis	OMIM:223900
Auriculocondylar Syndrome	Respiratory distress	ORPHA:137888
Fraser Syndrome 2	Cutaneous syndactyly, Respiratory failure	OMIM:617666
Methylmalonic Aciduria, Cblb Type	Respiratory distress	OMIM:251110
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Elevated circulating creatine kinase concentration, Exaggerated startle response	OMIM:253800
Meier-Gorlin Syndrome 4	Emphysema, Slender long bone, Patellar aplasia	OMIM:613804
Methylmalonic Aciduria, Cbla Type	Respiratory distress	OMIM:251100
Hyperoxaluria, Primary, Type I	Pathologic fracture, Increased bone mineral density, Cutis marmorata, Acrocyanosis	OMIM:259900
Eisenmenger Syndrome	Respiratory distress, Cyanosis, Aortopulmonary window, Exertional dyspnea, Hypoxemia, Clubbing	ORPHA:97214
Plaa-Associated Neurodevelopmental Disorder	Dystonia, Impaired oropharyngeal swallow response, Exaggerated startle response	ORPHA:521426
Common Variable Immunodeficiency	Pneumonia, Emphysema, Recurrent bronchitis, Recurrent respiratory infections, Purpura, Bronchiect...	ORPHA:1572
8Q24.3 Microdeletion Syndrome	Short 5th finger, Congenital hip dislocation, Finger clinodactyly, Cervical ribs, Respiratory dis...	ORPHA:508488
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Thin ribs, Coronal craniosynostosis, Pulmonary hypoplasia, Respiratory distress, Overlapping toe,...	ORPHA:83617
Loeys-Dietz Syndrome 4	Bruising susceptibility, Emphysema, Joint hypermobility, Arachnodactyly, Pneumothorax, Protrusio ...	OMIM:614816
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Pulmonary artery atresia, Tracheomalacia, Atelectasis, Respiratory insufficiency, Finger joint hy...	OMIM:620371
Oculocerebrorenal Syndrome Of Lowe	Abnormal epiphysis morphology, Atelectasis, Osteomalacia, Respiratory insufficiency, Joint stiffn...	ORPHA:534
Asparagine Synthetase Deficiency	Hypoasparaginemia, Tremor, Exaggerated startle response	OMIM:615574
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Osteopenia, Small hand, Slender finger, Limitation of joint mobility, Congenital hip dislocation,...	ORPHA:480880
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Metaphyseal irregularity, Metaphyseal cupping, Irregular iliac crest, Recurrent pneumonia, Respir...	ORPHA:99646
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Dysphagia, Exaggerated startle response	OMIM:617527
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Respiratory distress, Jaundice	ORPHA:79282
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Respiratory distress, Periorbital wrinkles, Hypohidrotic ectodermal dysplasia	OMIM:305100
Postinfectious Vasculitis	Pneumonia, Palpable purpura, Cutis marmorata, Arthritis, Vasculitis in the skin, Recurrent strept...	ORPHA:48435
Whim Syndrome	Pneumonia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Atelectasis, Respir...	ORPHA:51636
Primary Hyperoxaluria	Cutis marmorata, Generalized osteosclerosis, Acrocyanosis, Recurrent fractures	ORPHA:416
Ramos-Arroyo Syndrome	Respiratory distress	ORPHA:1051
Classical Ehlers-Danlos Syndrome	Osteopenia, Poor wound healing, Bruising susceptibility, Generalized joint hypermobility, Ecchymo...	ORPHA:287
Steinert Myotonic Dystrophy	Respiratory insufficiency, Respiratory failure requiring assisted ventilation, Respiratory failur...	ORPHA:273
Mitochondrial Dna-Associated Leigh Syndrome	Dyspnea, Hyperventilation, Apnea, Episodic respiratory distress	ORPHA:255210
Generalized Arterial Calcification Of Infancy	Osteomalacia, Respiratory distress, Abnormal hip joint morphology, Hypophosphatemic rickets, Cyan...	ORPHA:51608
Doors Syndrome	Short 5th finger, Short distal phalanx of finger, Aspiration pneumonia, Respiratory distress, 11 ...	ORPHA:79500
Meier-Gorlin Syndrome 6	Sandal gap, Recurrent respiratory infections, Emphysema, Patellar aplasia, Hip dysplasia, Tracheo...	OMIM:616835
Congenital Alveolar Capillary Dysplasia	Respiratory distress	ORPHA:210122
Coffin-Lowry Syndrome	Bifid sternum, Cutis marmorata, Tapered finger, Drumstick terminal phalanges, Narrow iliac wing, ...	OMIM:303600
Ellis Van Creveld Syndrome	Short distal phalanx of finger, Abnormal pelvic girdle bone morphology, Synostosis of carpal bone...	ORPHA:289
Cardiac Valvular Dysplasia 1	Pulmonary artery atresia, Cyanosis	OMIM:212093
Marfan Syndrome	Pulmonary artery dilatation, Emphysema, Premature osteoarthritis, Equinus calcaneus, Limited elbo...	OMIM:154700
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Hypokalemia, Decreased circulating renin level	ORPHA:90795
Gm1 Gangliosidosis Type 1	Exaggerated startle response	ORPHA:79255
Autosomal Dominant Cutis Laxa	Osteopenia, Hip dislocation, Peripheral pulmonary artery stenosis, Bronchiolitis, Premature skin ...	ORPHA:90348
Isolated Arrhinia	Respiratory distress	ORPHA:1134
Aicardi-Goutières Syndrome	Cutis marmorata, Multiple joint contractures, Arthritis, Prolonged neonatal jaundice, Acrocyanosis	ORPHA:51
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Nasal flaring, Brachydactyly, Short palm	ORPHA:466943
Granulomatous Disease, Chronic, X-Linked	Osteomyelitis, Recurrent pneumonia, Pleural effusion, Atelectasis	OMIM:306400
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Hypokalemia, Decreased circulating renin level	ORPHA:90793
Zygomycosis	Atelectasis, Pleural effusion, Pneumothorax, Acute infectious pneumonia, Osteolysis	ORPHA:73263
Leptospirosis	Respiratory distress, Jaundice, Pulmonary hemorrhage, Pleural effusion	ORPHA:509
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Respiratory distress, Generalized abnormality of skin, Pneumonia, Respiratory failure requiring a...	ORPHA:95455
Lmna-Related Cardiocutaneous Progeria Syndrome	Emphysema, Premature skin wrinkling, Abnormality of the pulmonary artery, Premature graying of hair	ORPHA:363618
22Q11.2 Deletion Syndrome	Multiple suture craniosynostosis, Atelectasis, Abnormal lung lobation, Joint hypermobility, Arach...	ORPHA:567
Cutis Laxa, Autosomal Recessive, Type Ib	Pulmonary artery aneurysm, Pulmonary artery dilatation, Emphysema, Death in childhood, Joint hype...	OMIM:614437
Hypermobile Ehlers-Danlos Syndrome	Limitation of joint mobility, Bruising susceptibility, Osteolysis, Apnea, Joint hypermobility, Ar...	ORPHA:285
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Respiratory distress, Pulmonary artery stenosis, Cervical ribs	ORPHA:2255
Marfan Syndrome	Osteopenia, Spontaneous pneumothorax, Pulmonary artery dilatation, Emphysema, Limited elbow movem...	ORPHA:558
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Decreased circulating iron concentration, Broad-based gait, Inability to walk, Stereotypical hand...	ORPHA:438213
Gitelman Syndrome	Respiratory distress, Gout	ORPHA:358
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Hypokalemia, Decreased circulating renin level	OMIM:202010
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Dysphagia, Exaggerated startle response	OMIM:618367
Sarcoidosis	Chylothorax, Emphysema, Abnormal pleura morphology, Pleural effusion, Pneumothorax, Dyspnea, Abno...	ORPHA:797
Chand Syndrome	Short fifth metatarsal, Atelectasis	ORPHA:1401
Congenitally Corrected Transposition Of The Great Arteries	Pulmonary artery atresia, Cyanosis	ORPHA:216694
Plague	Respiratory distress, Acute infectious pneumonia, Arthritis	ORPHA:707
Viss Syndrome	Pulmonary artery aneurysm, Bruising susceptibility, Emphysema, Genu valgum, Joint hypermobility, ...	OMIM:619472
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Attention deficit hyperactivity disorder, Motor stereotypy, Dysphagia, Exaggerated startle response	OMIM:619522
Pmm2-Cdg	Osteopenia, Aspiration pneumonia, Respiratory distress, Multiple joint contractures, Joint hyperm...	ORPHA:79318
Digeorge Syndrome	Recurrent pneumonia, Recurrent sinusitis, Atelectasis	OMIM:188400
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Hyponatremia, Hyperkalemia, Decreased circulating renin level	OMIM:201750
Alström Syndrome	Recurrent pneumonia, Recurrent upper respiratory tract infections, Short toe, Short finger, Respi...	ORPHA:64

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 Phf14

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

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 Phf14.

No publications found that use IMPC mice or data for Phf14.

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MGI Allele	Allele Type	Produced
Phf14^{em1(IMPC)Hmgu}	Exon Deletion	Mice

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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