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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	4.61×10^-05
hyperactivity	Phf14^{em1(IMPC)Hmgu}	HET	Early adult	6.91×10^-06
decreased vertical activity	Phf14^{em1(IMPC)Hmgu}	HET	Early adult	1.03×10^-06
decreased circulating alkaline phosphatase level	Phf14^{em1(IMPC)Hmgu}	HET	Early adult	5.39×10^-07
preweaning lethality, complete penetrance	Phf14^{em1(IMPC)Hmgu}	HOM	Early adult	1.34×10^-06
decreased locomotor activity	Phf14^{em1(IMPC)Hmgu}	HET	Early adult	2.21×10^-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 (646 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
Lethal Congenital Contracture Syndrome 3	Neonatal death, Arthrogryposis multiplex congenita, Multiple joint contractures, Respiratory insu...	OMIM:611369
Attention Deficit-Hyperactivity Disorder	Hyperactivity, Attention deficit hyperactivity disorder	OMIM:143465
Surfactant Metabolism Dysfunction, Pulmonary, 1	Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Dyspnea, Desquamative interstit...	OMIM:265120
Interstitial Pneumonitis, Desquamative, Familial	Respiratory distress, Cyanosis, Type II pneumocyte hypertrophy, Desquamative interstitial pneumon...	OMIM:263000
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ...	OMIM:610921
Bronchopulmonary Dysplasia	Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Cough, A...	ORPHA:70589
Hypomyelination Neuropathy-Arthrogryposis Syndrome	Respiratory distress, Limitation of joint mobility	ORPHA:2680
Asbestos Intoxication	Reduced forced vital capacity, Nonproductive cough, Decreased DLCO, Oxygen desaturation on exerti...	ORPHA:2302
Immunodeficiency 95	Respiratory distress, Recurrent respiratory infections, Respiratory failure, Recurrent viral pneu...	OMIM:619773
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Clubbing, ...	OMIM:610913
Perching Syndrome	Respiratory distress, Joint contracture, Cyanosis, Camptodactyly	OMIM:617055
Spinal Muscular Atrophy, Type I	Recurrent respiratory infections, Respiratory failure, Respiratory insufficiency, Death in childhood	OMIM:253300
Pulmonary Alveolar Proteinosis, Acquired	Recurrent respiratory infections, Cyanosis, Lung abscess, Pneumonia, Dyspnea, Clubbing, Intraalve...	OMIM:610910
Schizophrenia 15	Hyperactivity	OMIM:613950
Laryngotracheal Angioma	Respiratory distress, Cyanosis, Intercostal retractions, Apnea, Wheezing, Stridor, Cough	ORPHA:137935
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
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related	Death in infancy, Respiratory failure, Apnea, Respiratory insufficiency	OMIM:613869
Respiratory Distress Syndrome In Premature Infants	Respiratory distress, Neonatal respiratory distress, Atelectasis, Dyspnea, Tachypnea, Pulmonary e...	OMIM:267450
22q13 deletion syndrome (Phelan-Mcdermid syndrome)	Hyperactivity	DECIPHER:20
Muscular Hypertonia, Lethal	Respiratory distress, Death in infancy, Pneumonia	OMIM:254120
Krabbe Disease, Atypical, Due To Saposin A Deficiency	Central apnea, Death in infancy, Respiratory failure, Respiratory insufficiency	OMIM:611722
Isolated Congenital Hypoglossia/Aglossia	Respiratory distress, Dyspnea, Aplasia/Hypoplasia of fingers, Upper airway obstruction, Aspiratio...	ORPHA:141152
Bullous Dystrophy, Hereditary Macular Type	Tapered finger, Acrocyanosis, Short finger, Death in childhood	OMIM:302000
Infant Acute Respiratory Distress Syndrome	Cyanosis, Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemi...	ORPHA:70587
Renal Hypodysplasia/Aplasia 4	Respiratory failure, Pulmonary hypoplasia	OMIM:619887
Pontocerebellar Hypoplasia, Type 1C	Respiratory failure, Joint contracture, Respiratory insufficiency, Death in childhood	OMIM:616081
Emphysema, Congenital Lobar	Respiratory distress	OMIM:130710
Intellectual Developmental Disorder, Autosomal Recessive 37	Hyperactivity, Bruxism, Aggressive behavior	OMIM:615493
Potocki-Lupski syndrome (17p11.2 duplication syndrome)	Hyperactivity	DECIPHER:19
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A	Reduced vital capacity, Abnormal respiratory system physiology, Respiratory insufficiency, Reduce...	ORPHA:266
Seizures, Benign Familial Infantile, 3	Cyanosis, Apnea	OMIM:607745
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas...	OMIM:619466
Glycine Encephalopathy 2	Respiratory failure	OMIM:620398
Recurrent Respiratory Papillomatosis	Respiratory distress, Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract in...	ORPHA:60032
Intellectual Developmental Disorder, Autosomal Recessive 3	Hyperactivity	OMIM:608443
Stuve-Wiedemann Syndrome 2	Respiratory distress, Bowing of the long bones, Death in adolescence, Short long bone, Stillbirth...	OMIM:619751
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome	Hyperactivity, Bruxism, Aggressive behavior	ORPHA:356996
Developmental And Epileptic Encephalopathy 71	Respiratory failure, Cheyne-Stokes respiration, Respiratory insufficiency	OMIM:618328
Seizures, Benign Familial Infantile, 1	Cyanosis, Apnea	OMIM:601764
Laryngotracheoesophageal Cleft	Recurrent respiratory infections, Neonatal respiratory distress, Cyanosis, Dyspnea, Stridor, Coug...	ORPHA:2004
Phosphoserine Aminotransferase Deficiency	Death in infancy, Cyanotic episode, Apnea	OMIM:610992
Cryptogenic Organizing Pneumonia	Respiratory distress, Bronchial breath sound, Cyanosis, Crackles, Nonproductive cough, Dyspnea, P...	ORPHA:1302
Acute Interstitial Pneumonia	Cyanosis, Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Crackle...	ORPHA:79126
Congenital Myopathy 14	Death in infancy, Hip contracture, Apnea, Respiratory insufficiency due to muscle weakness, Flexi...	OMIM:618414
Metatropic Dysplasia	Abnormal metaphyseal vascular invasion, Flexion contracture, Long coccyx, Halberd-shaped pelvis, ...	OMIM:156530
Chronic Pneumonitis Of Infancy	Respiratory distress, Cyanosis, Intercostal retractions, Reduced forced vital capacity, Tachypnea...	ORPHA:91359
Bronchiolitis Obliterans With Obstructive Pulmonary Disease	Pneumonia, Reduced forced expiratory volume in one second, Respiratory tract infection, Dyspnea, ...	ORPHA:1303
Severe Acute Respiratory Syndrome	Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu...	ORPHA:140896
Intellectual Developmental Disorder, X-Linked 111	Hyperactivity, Aggressive behavior, Unsteady gait, Phonic tics, Compulsive behaviors, Dystonia	OMIM:301107
Glycine Encephalopathy 1	Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Hyperglycinemia, Lethargy	OMIM:605899
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Hyperactivity, Ataxia, Aggressive behavior, Tremor, Limb dystonia	OMIM:620270
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Hyperactivity, Ataxia, Aggressive behavior, Tremor, Choreoathetosis, Transient hyperphenylalanine...	OMIM:612716
Ciliary Dyskinesia, Primary, 21	Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ...	OMIM:615294
High Altitude Pulmonary Edema	Orthopnea, Cyanosis, Crackles, Dyspnea, Tachypnea, Hypoxemia, Cough, Pulmonary edema	ORPHA:330012
Congenital Lobar Emphysema	Respiratory distress, Emphysema	ORPHA:1928
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Respiratory failure requiring assisted ventilation, Dyspnea, Respiratory failure, Aspiration pneu...	ORPHA:90117
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome	Acrocyanosis	ORPHA:86918
Nemaline Myopathy 8	Death in infancy, Respiratory failure, Flexion contracture	OMIM:615348
Hereditary Pulmonary Alveolar Proteinosis	Respiratory distress, Respiratory failure requiring assisted ventilation, Crazy paving pattern, C...	ORPHA:264675
Mucus Inspissation Of Respiratory Tract	Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr...	OMIM:253240
Hyperprolinemia, Type I	Hyperactivity, Ataxia, Aggressive behavior, Hyperprolinemia, Abnormal repetitive mannerisms	OMIM:239500
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Respiratory tract infection, Hypersensitivity pneumonitis, Nonproductive cough, Chronic pulmonary...	ORPHA:79127
Pneumocystosis	Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Nonproductive cough...	ORPHA:723
Smith-Magenis syndrome	Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation	DECIPHER:8
Pleural Mesothelioma	Respiratory distress, Abnormal pleura morphology, Dyspnea, Abnormal lung morphology, Abnormal res...	ORPHA:50251
Venular Insufficiency, Systemic	Cyanosis	OMIM:192700
Sulfhemoglobinemia, Congenital	Cyanosis	OMIM:185460
Familial Nasal Acilia	Respiratory distress, Atelectasis, Dyspnea, Recurrent upper respiratory tract infections, Bronchi...	ORPHA:922
Butyrylcholinesterase Deficiency	Respiratory failure requiring assisted ventilation, Respiratory failure	ORPHA:132
Spondylometaphyseal Dysplasia, X-Linked	Hyperextensibility of the finger joints, Hip contracture, Tapered finger, Respiratory insufficien...	OMIM:313420
Choanal Atresia	Respiratory distress, Recurrent respiratory infections, Cyanosis, Craniosynostosis, Upper airway ...	ORPHA:137914
Neuralgic Amyotrophy	Acrocyanosis, Respiratory insufficiency	ORPHA:2901
Interstitial Lung Disease 2	Dyspnea, Clubbing of fingers, Alveolar cell carcinoma, Elevated bronchoalveolar lavage fluid neut...	OMIM:178500
Developmental And Epileptic Encephalopathy 30	Respiratory distress, Death in infancy	OMIM:616341
Intellectual Developmental Disorder, Autosomal Recessive 54	Exaggerated startle response, Attention deficit hyperactivity disorder	OMIM:617028
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hyperactivity, Hypertriglyceridemia, Ataxia, Tremor, Dystonia	OMIM:615924
Interstitial Lung Disease 1	Nonspecific interstitial pneumonia, Crackles, Intralobular septal thickening, Cough, Dyspnea, Clu...	OMIM:619611
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Respiratory distress, Cyanosis	ORPHA:91130
Ciliary Dyskinesia, Primary, 29	Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili...	OMIM:615872
Myasthenic Syndrome, Congenital, 6, Presynaptic	Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap...	OMIM:254210
Developmental And Epileptic Encephalopathy 43	Hyperactivity, Ataxia, Impulsivity, Attention deficit hyperactivity disorder	OMIM:617113
Methemoglobinemia, Beta Type	Cyanosis	OMIM:617971
Methemoglobinemia, Alpha Type	Cyanosis	OMIM:617973
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability	Joint laxity, Respiratory failure, Hypoplasia of the capital femoral epiphysis	OMIM:600561
Intellectual Developmental Disorder, X-Linked 109	Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv...	OMIM:309548
Primary Pulmonary Hypoplasia	Recurrent respiratory infections, Neonatal respiratory distress, Cyanosis, Apnea, Asthma, Pneumot...	ORPHA:2257
Gaucher Disease Type 2	Respiratory distress, Recurrent respiratory infections, Flexion contracture, Cough, Abnormal patt...	ORPHA:77260
Lethal Osteosclerotic Bone Dysplasia	Respiratory distress, Dyspnea, Respiratory failure	ORPHA:1832
Congenital Myopathy 10A, Severe Variant	Respiratory distress, Camptodactyly of finger, Respiratory insufficiency, Restrictive ventilatory...	OMIM:614399
Arthrogryposis Multiplex Congenita 6	Death in infancy, Respiratory failure, Death in childhood, Neonatal death, Arthrogryposis multipl...	OMIM:619334
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Hyperactivity, Broad-based gait, Aggressive behavior, Tremor, Abnormal repetitive mannerisms	OMIM:619470
Autoimmune Pulmonary Alveolar Proteinosis	Cyanosis, Crazy paving pattern, Crackles, Dyspnea, Clubbing, Intraalveolar phospholipid accumulat...	ORPHA:747
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Hyperactivity, Tremor, Inability to walk, Dysmetria, Gait ataxia, Gait disturbance	OMIM:618090
Fraxe Intellectual Disability	Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv...	ORPHA:100973
Pontocerebellar Hypoplasia, Type 4	Death in infancy, Respiratory failure, Congenital contracture	OMIM:225753
Idiopathic Bronchiectasis	Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Clubbing, ...	ORPHA:60033
Congenital Pulmonary Lymphangiectasia	Respiratory distress, Cyanosis, Chronic pulmonary obstruction, Cough, Pulmonary arterial hyperten...	ORPHA:2414
Intellectual Developmental Disorder, X-Linked 72	Hyperactivity, Abnormal repetitive mannerisms	OMIM:300271
Acute Lung Injury	Respiratory distress, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea, Tachypnea, Abnormal pulmon...	ORPHA:178320
Congenital Arthrogryposis With Anterior Horn Cell Disease	Rocker bottom foot, Respiratory insufficiency due to muscle weakness, Respiratory failure, Hip dy...	OMIM:611890
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	Respiratory distress	ORPHA:171703
Ciliary Dyskinesia, Primary, 5	Recurrent respiratory infections, Neonatal respiratory distress, Recurrent pneumonia, Bronchiecta...	OMIM:608647
Ceroid Lipofuscinosis, Neuronal, 10	Apnea, Split hand, Respiratory insufficiency, Respiratory failure, Neonatal death	OMIM:610127
Microcephaly, Seizures, And Developmental Delay	Hyperactivity, Ataxia	OMIM:613402
Hyperekplexia 4	Flexion contracture, Respiratory failure, Distal arthrogryposis, Camptodactyly, Adducted thumb	OMIM:618011
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Recurrent upper respiratory tract infections, Restrictive ventilatory defect, Interstitial pneumo...	OMIM:620296
Hartnup Disorder	Episodic ataxia, Hyperactivity, Attention deficit hyperactivity disorder	OMIM:234500
Bardet-Biedl Syndrome 16	Bronchiolitis, Recurrent respiratory infections, Polydactyly, Respiratory distress	OMIM:615993
Emphysema, Hereditary Pulmonary	Emphysema, Chronic pulmonary obstruction, Chronic bronchitis	OMIM:130700
Ciliary Dyskinesia, Primary, 33	Atelectasis, Recurrent pneumonia, Bronchiectasis, Ciliary dyskinesia, Chronic rhinitis, Cough, Re...	OMIM:616726
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Respiratory distress, Recurrent respiratory infections, Arachnodactyly, Missing ribs, Dyspnea, Ab...	ORPHA:2759
Muscular Dystrophy, Congenital, 1B	Respiratory failure, Achilles tendon contracture	OMIM:604801
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Crackles, ...	OMIM:610978
Fibrodysplasia Ossificans Progressiva	Hallux valgus, Progressive cervical vertebral spine fusion, Ectopic ossification in tendon tissue...	OMIM:135100
Combined Oxidative Phosphorylation Deficiency 51	Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia	OMIM:619057
Autoimmune Interstitial Lung, Joint, And Kidney Disease	Dyspnea, Tachypnea, Abnormal pulmonary interstitial morphology, Restrictive ventilatory defect, A...	OMIM:616414
Meconium Aspiration Syndrome	Respiratory distress, Atelectasis, Neonatal asphyxia, Pneumothorax, Wheezing, Hypoxemia, Aspirati...	ORPHA:70588
Staphylococcal Necrotizing Pneumonia	Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Pneumothorax, Tachypnea, Hypoxemia...	ORPHA:36238
Spinocerebellar Ataxia, Autosomal Recessive 30	Increased serum pyruvate, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Uns...	OMIM:619405
Stxbp1-Related Encephalopathy	Hyperactivity, Ataxia, Tremor, Inability to walk, Dystonia	ORPHA:599373
Severe X-Linked Mitochondrial Encephalomyopathy	Respiratory distress, Respiratory insufficiency	ORPHA:238329
Succinic Acidemia	Respiratory distress	OMIM:600335
Pulmonary Capillary Hemangiomatosis	Cyanosis, Pulmonary edema, Diffuse alveolar hemorrhage, Pulmonary capillary hemangiomatosis, Dysp...	ORPHA:199241
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp...	ORPHA:254875
Congenital Myopathy 21 With Early Respiratory Failure	Nocturnal hypoventilation, Dyspnea, Respiratory failure, Lipoid pneumonia	OMIM:620326
Obesity-Hypoventilation Syndrome	Hypoventilation, Cyanosis	OMIM:257500
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Neonatal respiratory distress, Multiple prenatal fractures, Flexion contracture, Respiratory fail...	OMIM:616867
Guanidinoacetate Methyltransferase Deficiency	Hyperactivity, Ataxia, Aggressive behavior, Athetosis, Self-injurious behavior, Dystonia	ORPHA:382
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Death in infancy, Respiratory failure, Apnea	OMIM:616277
Hepatic Veno-Occlusive Disease	Jaundice, Respiratory failure	ORPHA:890
Diaphanospondylodysostosis	Respiratory distress, Missing ribs, Narrow pelvis bone, Absent or minimally ossified vertebral bo...	ORPHA:66637
Intellectual Developmental Disorder, X-Linked 104	Tremor, Hyperactivity, Ataxia, Aggressive behavior	OMIM:300983
Myasthenic Syndrome, Congenital, 4A, Slow-Channel	Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap...	OMIM:605809
Odontochondrodysplasia 1	Respiratory distress, Recurrent respiratory infections, Death in infancy, Short metacarpal, Brach...	OMIM:184260
Neurogenic Arthrogryposis Multiplex Congenita	Respiratory distress, Hip contracture, Rocker bottom foot, Ankle flexion contracture, Respiratory...	ORPHA:1143
Idiopathic Pulmonary Fibrosis	Crackles, Bronchiectasis, Abnormal pulmonary interstitial morphology, Honeycomb lung, Clubbing of...	ORPHA:2032
Pulmonary Venoocclusive Disease 2, Autosomal Recessive	Pulmonary venous occlusion, Dyspnea, Pulmonary capillary hemangiomatosis, Cough, Decreased DLCO, ...	OMIM:234810
Vacterl Association With Hydrocephalus	Absent thumb, Radial club hand, Respiratory insufficiency, Respiratory failure, Stillbirth	OMIM:276950
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Respiratory distress, Syndactyly, Postaxial polydactyly, Hypoplastic ilia, Hypoplasia of the radi...	OMIM:617895
Congenital Muscular Dystrophy, Ullrich Type	Long toe, Flexion contracture, Hip dislocation, Elbow flexion contracture, Hyperextensibility at ...	ORPHA:75840
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Respiratory insufficiency due to muscle weakness, Respiratory failure, Flexion contracture, Recur...	ORPHA:2590
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies	Self-injurious behavior, Hyperactivity, Aggressive behavior	OMIM:619031
Central Hypoventilation Syndrome, Congenital, 3	Respiratory failure, Apnea, Central hypoventilation	OMIM:619483
Restrictive Dermopathy 2	Respiratory distress, Cyanosis, Short clavicles, Overtubulated long bones	OMIM:619793
Pulmonary Non-Tuberculous Mycobacterial Infection	Respiratory distress, Crackles, Dyspnea, Pneumothorax, Chronic pulmonary obstruction, Bronchiecta...	ORPHA:411703
Lethal Recessive Chondrodysplasia	Respiratory distress, Generalized osteosclerosis, Short long bone, Flared elbow metaphyses	ORPHA:1423
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Respiratory distress	OMIM:619099
Surfactant Metabolism Dysfunction, Pulmonary, 5	Dyspnea, Intraalveolar phospholipid accumulation, Respiratory insufficiency, Interlobular septal ...	OMIM:614370
Laryngomalacia	Respiratory distress, Congenital laryngeal stridor	OMIM:150280
Cleft Larynx, Posterior	Aspiration, Cyanosis	OMIM:215800
Oculopharyngeal Myopathy With Leukoencephalopathy 1	Respiratory failure	OMIM:618637
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia	Hyperactivity, Tremor, Inability to walk, Self-injurious behavior, Bruxism, Abnormal repetitive m...	OMIM:618718
Juvenile Huntington Disease	Broad-based gait, Hyperactivity, Ataxia, Gait ataxia, Bradykinesia, Progressive cerebellar ataxia...	ORPHA:248111
Tracheobronchopathia Osteochondroplastica	Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,...	ORPHA:3348
Alpha-1-Antitrypsin Deficiency	Chronic bronchitis, Dyspnea, Panacinar emphysema, Chronic pulmonary obstruction, Wheezing, Bronch...	OMIM:613490
Scedosporiosis	Bronchial breath sound, Sinusitis, Arthralgia/arthritis, Pneumonia, Bronchitis, Osteomyelitis, Ab...	ORPHA:449280
Classic Glucose Transporter Type 1 Deficiency Syndrome	Central apnea, Cyanosis	ORPHA:71277
Adult Acute Respiratory Distress Syndrome	Pneumonia, Dyspnea, Hypoxemia, Respiratory failure, Abnormal blood gas level, Pulmonary edema	ORPHA:70578
Postsynaptic Congenital Myasthenic Syndromes	Orthopnea, Reduced vital capacity, Cyanosis, Restrictive ventilatory defect, Respiratory failure,...	ORPHA:98913
Pulmonary Alveolar Microlithiasis	Bronchitis, Nonproductive cough, Tachypnea, Oxygen desaturation on exertion, Respiratory tract in...	ORPHA:60025
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B	Neonatal death, Apnea, Pulmonary hypoplasia	OMIM:615228
Congenital Diaphragmatic Hernia	Hypoxemia, Pulmonary hypoplasia, Respiratory distress	ORPHA:2140
Combined Oxidative Phosphorylation Deficiency 28	Respiratory failure	OMIM:616794
Avian Influenza	Respiratory distress, Miscarriage, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Pne...	ORPHA:454836
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly	Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Bradykinesia, Self-injurious behavi...	OMIM:619827
Cardiomyopathy, Dilated, 1Gg	Respiratory distress	OMIM:613642
Congenital Tracheomalacia	Apnea, Tracheobronchomalacia, Cough, Emphysema, Neonatal respiratory distress, Intercostal retrac...	ORPHA:95430
Odontochondrodysplasia	Respiratory distress, Death in infancy, Bowing of the long bones, Coxa valga, Cone-shaped epiphys...	ORPHA:166272
Laryngeal Abductor Paralysis	Stridor, Cyanosis	OMIM:150260
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type	Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder	OMIM:301008
Idiopathic Pulmonary Hemosiderosis	Crackles, Nodular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Dyspnea, Restrictive ve...	ORPHA:99931
Benign Familial Infantile Epilepsy	Cyanosis, Apnea	ORPHA:306
Congenital Muscular Dystrophy With Intellectual Disability	Respiratory failure, Multiple joint contractures, Hip dislocation, Respiratory insufficiency	ORPHA:370968
Idiopathic Chronic Eosinophilic Pneumonia	Crackles, Atelectasis, Hypersensitivity pneumonitis, Nonproductive cough, Dyspnea, Wheezing, Asth...	ORPHA:2902
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6	Respiratory distress, Paradoxical respiration, Plantar flexion contracture, Arthrogryposis-like h...	OMIM:620011
Myotubular Myopathy With Abnormal Genital Development	Respiratory distress, Death in infancy, Atelectasis, Thin ribs, Neonatal death, Joint hypermobility	OMIM:300219
Waardenburg Syndrome Type 3	Camptodactyly of finger, Joint stiffness, Atelectasis, Abnormal finger morphology, Cutaneous fing...	ORPHA:896
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Respiratory distress, Respiratory insufficiency due to muscle weakness	OMIM:300580
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures	Respiratory distress, Joint contracture	OMIM:617977
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema	Respiratory distress, Angioedema, Erythema, Upper airway obstruction, Urticaria	ORPHA:100057
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Death in infancy, Neonatal respiratory distress, Respiratory insufficiency, Respiratory failure, ...	OMIM:245400
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Resting tremor, Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Tremor, Abnormal ...	ORPHA:3077
Slc35A1-Cdg	Respiratory distress, Pneumonia, Hypoxemia, Subcutaneous hemorrhage, Pulmonary hemorrhage	ORPHA:238459
Glutaric Acidemia Type 3	Lethargy, Impulsivity, Abnormality of circulating enzyme level, Elevated circulating glutaric aci...	ORPHA:35706
Primary Ciliary Dyskinesia	Recurrent sinopulmonary infections, Neonatal respiratory distress, Peribronchovascular interstiti...	ORPHA:244
Congenital Disorder Of Glycosylation, Type Iu	Respiratory distress, Death in infancy, Neonatal respiratory distress, Congenital contracture	OMIM:615042
Congenital Neuronal Ceroid Lipofuscinosis	Neonatal respiratory distress, Split hand, Apnea, Respiratory failure	ORPHA:168486
Infantile-Onset X-Linked Spinal Muscular Atrophy	Respiratory distress, Hip contracture, Interphalangeal joint contracture of finger, Ankle flexion...	ORPHA:1145
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive	Respiratory distress, Lymphocytic interstitial pneumonia	OMIM:245590
Larsen-Like Syndrome, Lethal Type	Tracheomalacia, Neonatal death, Pulmonary hypoplasia, Respiratory insufficiency	OMIM:245650
Acquired Methemoglobinemia	Hypoxemia, Dyspnea, Cyanosis, Respiratory distress	ORPHA:464453
Chronic Beryllium Disease	Lymphocytic interstitial pneumonia, Hypersensitivity pneumonitis, Dyspnea, Abnormality on pulmona...	ORPHA:133
Sarcoidosis, Susceptibility To, 2	Dyspnea, Pneumothorax, Clubbing, Bronchiectasis, Abnormal pulmonary interstitial morphology, Hypo...	OMIM:612387
Cyanosis, Transient Neonatal	Jaundice, Cyanosis	OMIM:613977
Mitochondrial Phosphate Carrier Deficiency	Cyanosis, Respiratory insufficiency	OMIM:610773
Intermediate Nemaline Myopathy	Multiple prenatal fractures, Arthrogryposis multiplex congenita, Respiratory failure, Flexion con...	ORPHA:171433
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Respiratory distress, Radial bowing, Dumbbell-shaped long bone, Hypoplastic ischia, Hypoplastic i...	OMIM:151210
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome	Neonatal death, Bilateral lung agenesis, Respiratory insufficiency	OMIM:601612
Pulmonary Hypoplasia, Primary	Neonatal death, Pulmonary hypoplasia	OMIM:265430
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Central apnea, Congenital hip dislocation, Multiple joint contractures, Femur fracture, Respirato...	OMIM:618291
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Cyanosis, Exertional dyspnea	OMIM:250800
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Respiratory distress, Respiratory failure requiring assisted ventilation, Ventilator dependence w...	ORPHA:254864
Congenital Disorder Of Glycosylation, Type Iy	Respiratory distress, Clinodactyly	OMIM:300934
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Respiratory distress, Death in infancy, Tachypnea, Respiratory insufficiency, Respiratory failure	OMIM:614299
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Atelectasis, Chronic sinusitis, Recurrent bronchitis	OMIM:300455
Lennox-Gastaut Syndrome	Hyperactivity, Falls, Aggressive behavior	ORPHA:2382
Chitayat Syndrome	Respiratory distress, Recurrent respiratory infections, Hallux valgus, Abnormal pulmonary interst...	OMIM:617180
Hypoadrenocorticism, Familial	Cyanosis, Apnea	OMIM:240200
X-Linked Centronuclear Myopathy	Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve...	ORPHA:596
Breath-Holding Spells	Cyanosis	OMIM:607578
Hereditary Methemoglobinemia	Cyanosis, Exertional dyspnea	ORPHA:621
Pulmonary Arteriovenous Malformation	Cyanosis, Epistaxis, Dyspnea, Clubbing, Telangiectasia, Hypoxemia, Pleural empyema, Pulmonary hem...	ORPHA:2038
Neuropathy, Congenital Hypomyelinating, 3	Limb joint contracture, Flexion contracture, 2-3 toe syndactyly, Respiratory insufficiency, Respi...	OMIM:618186
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Hyperactivity, Dystonia, Impulsivity, Aggressive behavior, Inability to walk, Gait ataxia, Dysphagia	ORPHA:500180
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Respiratory failure	OMIM:613435
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1	Osteopenia, Crackles, Dyspnea, Premature graying of hair, Decreased DLCO, Clubbing of fingers, Pu...	OMIM:614742
Combined Oxidative Phosphorylation Defect Type 23	Stridor, Paroxysmal dyspnea, Respiratory failure, Cyanosis	ORPHA:444013
Congenital Laryngeal Web	Respiratory distress, Stridor	ORPHA:2374
Mitochondrial Complex I Deficiency, Nuclear Type 18	Death in infancy, Respiratory failure	OMIM:618240
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Recurrent respiratory infections, Death in infancy, Intraalveolar phospholipid accumulation, Resp...	OMIM:618042
Cryofibrinogenemia, Familial Primary	Acrocyanosis	OMIM:123540
Combined Oxidative Phosphorylation Deficiency 30	Respiratory distress, Death in infancy	OMIM:616974
Allergic Bronchopulmonary Aspergillosis	Asthma, Bronchiectasis, Respiratory insufficiency, Cough, Pulmonary arterial hypertension, Emphysema	ORPHA:1164
Benign Familial Neonatal Epilepsy	Circumoral cyanosis, Apnea	ORPHA:1949
Cardiomyopathy, Dilated, 2H	Neonatal death, Tachypnea, Cardiorespiratory arrest	OMIM:620203
Intellectual Developmental Disorder, Autosomal Recessive 38	Hyperactivity, Aggressive behavior, Unsteady gait, Recurrent hand flapping, Self-mutilation	OMIM:615516
Thanatophoric Dysplasia, Type Ii	Small abnormally formed scapulae, Hypoplastic ilia, Wide-cupped costochondral junctions, Flared m...	OMIM:187601
Anaplastic Thyroid Carcinoma	Respiratory distress, Dyspnea, Upper airway obstruction, Neoplasm of the lung, Stridor, Cough	ORPHA:142
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures	Hyperactivity, Aggressive behavior, Inability to walk, Choreoathetosis, Self-injurious behavior	OMIM:620023
Myopathy, Myofibrillar, 9, With Early Respiratory Failure	Achilles tendon contracture, Reduced vital capacity, Respiratory failure, Nocturnal hypoventilation	OMIM:603689
Multiple Mitochondrial Dysfunctions Syndrome 3	Arthrogryposis multiplex congenita, Respiratory failure, Respiratory insufficiency	OMIM:615330
Radio-Renal Syndrome	Respiratory distress, Dyspnea, Hypoplasia of the radius, Abnormal rib morphology, Respiratory fai...	ORPHA:3015
Niemann-Pick Disease, Type C2	Death in infancy, Neonatal respiratory distress, Jaundice, Respiratory insufficiency, Death in ch...	OMIM:607625
Immunodeficiency 54	Recurrent respiratory infections, Respiratory failure, Respiratory insufficiency	OMIM:609981
Combined Oxidative Phosphorylation Deficiency 52	Death in infancy, Respiratory failure	OMIM:619386
Malaria	Respiratory distress	ORPHA:673
Ciliary Dyskinesia, Primary, 2	Respiratory distress, Recurrent respiratory infections, Sinusitis, Bronchiectasis, Immotile cilia...	OMIM:606763
Succinic Semialdehyde Dehydrogenase Deficiency	Hyperactivity, Ataxia, Aggressive behavior, Self-injurious behavior, Elevated circulating gamma-a...	OMIM:271980
Coenzyme Q10 Deficiency, Primary, 8	Respiratory distress, Flexion contracture, Pulmonary hypoplasia	OMIM:616733
Pontocerebellar Hypoplasia Type 1	Arthrogryposis multiplex congenita, Respiratory failure, Congenital laryngeal stridor	ORPHA:2254
Intellectual Developmental Disorder, Autosomal Dominant 67	Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder	OMIM:619927
Nipah Virus Disease	Respiratory distress, Recurrent pharyngitis, Cough	ORPHA:99825
Achondroplasia	Respiratory distress, Death in infancy, Brachydactyly, Radial bowing, Limited hip extension, Shor...	OMIM:100800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Vertebral fusion, Elbow contracture, Achilles tendon contracture, Restrictive ventilatory defect,...	OMIM:606612
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Camptodactyly of finger, Tachypnea, Respiratory failure, Inspiratory stridor, Ventilator dependen...	OMIM:604320
Neuromyelitis Optica Spectrum Disorder	Respiratory failure	ORPHA:71211
Osteogenesis Imperfecta, Type X	Respiratory distress, Osteopenia, Joint laxity, Multiple rib fractures, Short femur, Bowing of th...	OMIM:613848
Myopathy And Diabetes Mellitus	Respiratory distress, Achilles tendon contracture	ORPHA:2596
Severe Congenital Nemaline Myopathy	Multiple prenatal fractures, Flexion contracture, Thin ribs, Respiratory failure, Pulmonary hypop...	ORPHA:171430
Muscular Dystrophy, Duchenne Type	Hypoventilation, Respiratory insufficiency due to muscle weakness, Achilles tendon contracture, F...	OMIM:310200
Tricuspid Atresia	Pulmonary artery atresia, Cyanosis	ORPHA:1209
Proximal Spinal Muscular Atrophy	Hypoventilation, Neonatal respiratory distress, Multiple joint contractures, Recurrent infections...	ORPHA:70
Peroxisome Biogenesis Disorder 4A (Zellweger)	Death in infancy, Respiratory failure, Epiphyseal stippling	OMIM:614862
Phenylketonuria	Maternal hyperphenylalaninemia, Hyperactivity, Aggressive behavior, Compulsive behaviors, Hyperph...	OMIM:261600
Pyruvate Dehydrogenase E1-Alpha Deficiency	Respiratory failure, Apneic episodes precipitated by illness, fatigue, stress	OMIM:312170
Cln5 Disease	Hyperactivity, Ataxia, Aggressive behavior, Tremor, Inability to walk, Unsteady gait, Dysmetria, ...	ORPHA:228360
Short Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress	ORPHA:26792
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Respiratory distress, Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Short m...	OMIM:617102
Mitochondrial Complex I Deficiency, Nuclear Type 10	Respiratory failure, Apnea, Central hypoventilation	OMIM:618233
Spinal muscular atrophy, type I, with congenital bone fractures	Respiratory distress, Osteopenia, Congenital hip dislocation, Arachnodactyly, Rocker bottom foot,...	OMIM:271225
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Respiratory distress, Osteopenia, Osteomyelitis, Periostitis, Osteolysis, Fused cervical vertebra...	OMIM:612852
Peripheral Motor Neuropathy-Dysautonomia Syndrome	Acrocyanosis, Joint stiffness	ORPHA:2400
Congenital Myasthenic Syndrome	Joint laxity, Recurrent respiratory infections, Cyanosis, Sudden episodic apnea, Congenital hip d...	ORPHA:590
Presynaptic Congenital Myasthenic Syndromes	Joint laxity, Recurrent respiratory infections, Cyanosis, Sudden episodic apnea, Congenital hip d...	ORPHA:98914
Leigh Syndrome	Respiratory failure, Abnormal pattern of respiration, Respiratory insufficiency	OMIM:256000
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Hypopnea,...	OMIM:618426
Kniest Dysplasia	Respiratory distress, Hip contracture, Dumbbell-shaped long bone, Delayed epiphyseal ossification...	OMIM:156550
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type	Hyperactivity, Inflexible adherence to routines	OMIM:301076
Multiple Mitochondrial Dysfunctions Syndrome 1	Death in infancy, Respiratory insufficiency, Respiratory failure, Neonatal death, Pulmonary arter...	OMIM:605711
Brown-Vialetto-Van Laere Syndrome 1	Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve...	OMIM:211530
Intellectual Developmental Disorder, X-Linked 77	Hyperactivity	OMIM:300454
C1Q Deficiency 2	Atelectasis, Bronchiectasis, Facial erythema, Arthritis, Vasculitis in the skin, Recurrent lower ...	OMIM:620321
Snakebite Envenomation	Epistaxis, Angioedema, Erythema, Respiratory failure, Respiratory paralysis, Ecchymosis	ORPHA:449285
Mitochondrial Pyruvate Carrier Deficiency	Respiratory distress	OMIM:614741
Thyroid Lymphoma	Respiratory distress, Dyspnea, Stridor, Upper airway obstruction	ORPHA:97285
Tetrasomy 5P	Respiratory distress, Recurrent respiratory infections, Cyanosis, Overlapping toe, Short hallux, ...	ORPHA:3309
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Respiratory insufficiency due to muscle weakness, Dyspnea, Respiratory failure	ORPHA:352447
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Respiratory distress, Respiratory insufficiency due to muscle weakness	OMIM:613561
Congenital Heart Block	Pleural effusion, Cyanosis, Crackles	ORPHA:60041
Congenital Disorder Of Glycosylation, Type Ie	Respiratory distress, Ankle flexion contracture, Small hand, Upper limb undergrowth, Knee flexion...	OMIM:608799
Congenital Tricuspid Valve Dysplasia	Respiratory failure requiring assisted ventilation, Cyanosis, Tachypnea, Anomalous pulmonary veno...	ORPHA:555874
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Respiratory distress, Central apnea, Femoral bowing, Tibial bowing, Respiratory failure, Neonatal...	OMIM:616482
Triosephosphate Isomerase Deficiency	Respiratory distress, Death in infancy, Respiratory insufficiency due to muscle weakness, Jaundic...	OMIM:615512
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Hyperactivity, Broad-based gait, Ataxia, Inappropriate laughter, Polyphagia	ORPHA:411515
Mercury Poisoning	Respiratory distress, Dyspnea, Interstitial pneumonitis, Respiratory failure	ORPHA:330021
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Respiratory distress, Delayed epiphyseal ossification, Abnormal epiphysis morphology, Prolonged n...	ORPHA:226313
Diaphanospondylodysostosis	Respiratory distress, Delayed vertebral ossification, Absent in utero ossification of vertebral b...	OMIM:608022
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Death in infancy, Respiratory failure, Flexion contracture, Camptodactyly of finger	ORPHA:1194
Moebius Syndrome	Respiratory distress, Syndactyly, Brachydactyly, Split hand, Abnormal pelvic girdle bone morpholo...	OMIM:157900
Hereditary Motor And Sensory Neuropathy, Type Iic	Down-sloping shoulders, Stridor, Respiratory failure, Hammertoe, Intercostal muscle weakness	OMIM:606071
Auriculocondylar Syndrome 2A	Respiratory distress, Apnea	OMIM:614669
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Respiratory distress, Death in infancy, Respiratory failure, Chylothorax, Death in childhood, Joi...	OMIM:620278
Tibial Muscular Dystrophy	Respiratory failure	ORPHA:609
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Respiratory distress	ORPHA:240085
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Atelectasis, Achilles tendon contracture, Decreased cervical spine flexion due to contractures of...	ORPHA:254361
Alg1-Cdg	Respiratory failure, Limitation of joint mobility	ORPHA:79327
Combined Oxidative Phosphorylation Deficiency 11	Death in infancy, Respiratory failure, Stillbirth, Death in childhood, Neonatal death	OMIM:614922
Glycine Encephalopathy With Normal Serum Glycine	Joint laxity, Hip contracture, Apnea, Overlapping toe, Flexion contracture, Hip dislocation, Elbo...	OMIM:617301
Stiff Person Spectrum Disorder	Exaggerated startle response, Falls, Difficulty walking	ORPHA:3198
Congenital Myopathy 10B, Mild Variant	Elbow contracture, Reduced forced vital capacity, Achilles tendon contracture, Recurrent pneumoni...	OMIM:620249
Nephronophthisis 2	Respiratory failure, Pulmonary hypoplasia, Respiratory insufficiency	OMIM:602088
N-Acetylglutamate Synthase Deficiency	Respiratory distress	OMIM:237310
Meckel Syndrome 14	Syndactyly, Bowing of the long bones, Cyanosis, Postaxial polydactyly, Postaxial hand polydactyly...	OMIM:619879
Combined Oxidative Phosphorylation Deficiency 4	Death in infancy, Respiratory failure	OMIM:610678
Severe Neurodegenerative Syndrome With Lipodystrophy	Reduced subcutaneous adipose tissue, Respiratory failure	ORPHA:363400
Congenital Disorder Of Glycosylation, Type Ix	Respiratory distress, Death in childhood	OMIM:615597
Idiopathic Neonatal Atrial Flutter	Respiratory distress, Tachypnea	ORPHA:45452
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Respiratory failure	ORPHA:70472
Car T Cell Therapy-Associated Cytokine Release Syndrome	Tachypnea, Hypoxemia, Respiratory failure, Pleural effusion, Pulmonary edema	ORPHA:542323
Riddle Syndrome	Conjunctival telangiectasia, Pneumonia, Bronchitis, Neonatal asphyxia, Erythema, Recurrent pneumo...	ORPHA:420741
Isolated Right Ventricular Hypoplasia	Hypoxemia, Dyspnea, Cyanosis, Clubbing	ORPHA:439
Thoracic Dysplasia-Hydrocephalus Syndrome	Respiratory failure, Abnormal metaphysis morphology	ORPHA:1861
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Respiratory distress, Dyspnea, Cough	ORPHA:86812
Arterial Tortuosity Syndrome	Respiratory distress, Telangiectasia of the skin, Prematurely aged appearance, Arachnodactyly, Cr...	ORPHA:3342
Aromatic L-Amino Acid Decarboxylase Deficiency	Torticollis, Exaggerated startle response, Oculogyric crisis, Tongue thrusting, Limb tremor, Chor...	OMIM:608643
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Respiratory failure, Tachypnea, Death in childhood	OMIM:615838
Geleophysic Dysplasia 3	Epiphyseal dysplasia, Pneumonia, Limited elbow movement, Limited wrist movement, Dyspnea, Short f...	OMIM:617809
Myasthenic Syndrome, Congenital, 21, Presynaptic	Cyanosis, Apnea, Respiratory insufficiency, Knee flexion contracture	OMIM:617239
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Limb joint contracture, Craniosynostosis, Ankle flexion contracture, Knee flexion contracture, Cy...	ORPHA:284417
Muscular Dystrophy, Congenital, With Or Without Seizures	Respiratory distress, Respiratory failure	OMIM:620166
Atrial Septal Defect, Ostium Primum Type	Recurrent respiratory infections, Cyanosis, Dyspnea, Tachypnea, Abnormal respiratory system physi...	ORPHA:99106
Peripartum Cardiomyopathy	Orthopnea, Crackles, Dyspnea, Asthma, Respiratory failure, Paroxysmal dyspnea, Pulmonary arterial...	ORPHA:563
Deafness-Lymphedema-Leukemia Syndrome	Recurrent respiratory infections, Respiratory failure, Bruising susceptibility	ORPHA:3226
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Respiratory failure	OMIM:613954
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Respiratory distress, Tapered finger, Flexion contracture, Hyperextensibility at wrists, Hip dysp...	ORPHA:544503
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Respiratory distress	OMIM:612075
Female Restricted Epilepsy With Intellectual Disability	Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors	ORPHA:101039
Lethal Congenital Contracture Syndrome 2	Arthrogryposis multiplex congenita, Respiratory failure	OMIM:607598
Shwachman-Diamond Syndrome 1	Respiratory distress, Neonatal respiratory distress, Anterior rib cupping, Metaphyseal sclerosis,...	OMIM:260400
Congenital Multicore Myopathy With External Ophthalmoplegia	Joint laxity, Recurrent respiratory infections, Pneumonia, Flexion contracture, Abnormal respirat...	ORPHA:98905
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory tract infec...	ORPHA:308552
Amyotrophic Lateral Sclerosis	Dyspnea, Respiratory failure, Abnormal respiratory system physiology	ORPHA:803
Folinic Acid-Responsive Seizures	Respiratory distress, Apnea	ORPHA:79097
Citrullinemia Type Ii	Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hypercholest...	ORPHA:247585
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Respiratory failure, Flexion contracture, Tapered finger	OMIM:616505
Bronchogenic Cyst	Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Atelectasis, Dyspnea, Cough, Bronchogenic ...	ORPHA:2357
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Respiratory distress, Osteopenia, Multiple joint contractures, Metaphyseal widening, Arachnodacty...	ORPHA:536467
Sandestig-Stefanova Syndrome	Clinodactyly, Respiratory failure, Rocker bottom foot, Camptodactyly	OMIM:618804
Oculocerebrofacial Syndrome, Kaufman Type	Respiratory distress, Dyspnea, Respiratory failure, Arachnodactyly	ORPHA:2707
Buerger Disease	Acrocyanosis	ORPHA:36258
Progressive Supranuclear Palsy-Corticobasal Syndrome	Respiratory distress	ORPHA:240103
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Cyanosis, Apnea	OMIM:261680
X-Linked Creatine Transporter Deficiency	Hyperactivity, Ataxia, Abnormal circulating creatine concentration, Athetosis, Dystonia, Self-mut...	ORPHA:52503
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Respiratory distress, Respiratory insufficiency due to muscle weakness, Respiratory failure, Deat...	OMIM:220110
Developmental And Epileptic Encephalopathy 68	Respiratory distress, Flexion contracture	OMIM:618201
Tularemia	Respiratory distress, Pleural effusion, Pneumonia, Cough	ORPHA:3392
Lethal Acantholytic Erosive Disorder	4-5 finger syndactyly, 2-3 finger syndactyly, Fragile skin, Respiratory failure, Clinodactyly of ...	ORPHA:158687
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Long toe, Death in infancy, Neonatal respiratory distress, Apnea, Tapered toe, Tapered finger, Lo...	OMIM:608836
Lissencephaly Syndrome, Norman-Roberts Type	Respiratory distress, Rocker bottom foot, Adducted thumb	ORPHA:89844
Hereditary Bullous Dystrophy, Macular Type	Acrocyanosis, Pneumonia, Short finger, Tapered finger	ORPHA:1867
Complete Atrioventricular Septal Defect	Cyanosis, Intercostal retractions, Crackles, Wheezing, Tachypnea, Recurrent pneumonia, Elevated p...	ORPHA:1329
Optic Atrophy 11	Hyperactivity, Ataxia, Gait apraxia, Dysmetria, Athetosis, Stereotypical body rocking, Attention ...	OMIM:617302
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Respiratory distress, Postaxial hand polydactyly, Abnormal rib morphology, Broad ribs, Short ribs...	ORPHA:2519
Sepsis In Premature Infants	Cyanosis, Abnormal mucociliary clearance, Dyspnea, Jaundice, Nasal flaring, Abnormal respiratory ...	ORPHA:90051
Congenital Tracheal Stenosis	Respiratory distress, Cyanosis, Neonatal asphyxia, Abnormal lung morphology, Dyspnea, Abnormal lu...	ORPHA:141127
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Crackles, Atelectasis, Dyspnea, Asthma, Wheezing, Abnormal pulmonary interstitial morphology, Bro...	OMIM:620233
Gm2 Gangliosidosis, Ab Variant	Abnormal fear-induced behavior, Exaggerated startle response, Inappropriate behavior, Dystonia	ORPHA:309246
Hypoglossia With Situs Inversus	Respiratory distress, Upper airway obstruction	OMIM:612776
Chiari Malformation Type Ii	Cyanosis, Inspiratory stridor	OMIM:207950
Meier-Gorlin Syndrome 1	Respiratory distress, Flat glenoid fossa, Flexion contracture, Cutaneous finger syndactyly, Short...	OMIM:224690
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Agitation	OMIM:618056
Congenitally Uncorrected Transposition Of The Great Arteries	Hypoxemia, Cyanosis, Tachypnea, Anomalous pulmonary venous return	ORPHA:860
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Respiratory distress, Death in infancy, Inspiratory stridor, Irregular respiration	OMIM:604377
Criss-Cross Heart	Cyanosis, Respiratory insufficiency	ORPHA:1461
Spinocerebellar Ataxia Type 1	Respiratory failure	ORPHA:98755
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Hypoventilation, Atelectasis, Flexion contracture, Respiratory insufficiency, Pulmonary arterial ...	ORPHA:258
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Polydactyly, Aspiration pneumonia	ORPHA:314655
Eosinophilic Granulomatosis With Polyangiitis	Recurrent intrapulmonary hemorrhage, Cutis marmorata, Sinusitis, Abnormal pleura morphology, Asth...	ORPHA:183
3-Methylglutaconic Aciduria, Type Viii	Death in infancy, Apnea, Jaundice, Hypopnea, Respiratory failure, Neonatal death, Respiratory arrest	OMIM:617248
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Tapered finger, Long fingers, Joint contracture of the 5th finger, Clinodactyly of the 5th finger...	OMIM:614407
Pfeiffer Syndrome Type 2	Respiratory distress, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hall...	ORPHA:93259
Hyperparathyroidism, Transient Neonatal	Respiratory distress, Osteopenia, Short femur, Recurrent fractures, Metaphyseal spurs, Undulate r...	OMIM:618188
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Respiratory distress, Generalized abnormality of skin, Flexion contracture, Respiratory insuffici...	ORPHA:367
Synaptic Congenital Myasthenic Syndromes	Respiratory distress, Hypoventilation, Neonatal respiratory distress, Limited wrist extension, Re...	ORPHA:98915
Carnitine-Acylcarnitine Translocase Deficiency	Cyanosis, Sudden episodic apnea, Respiratory insufficiency	ORPHA:159
Multiple Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Jaundice, Pulmonary hypoplasia, Neonatal death	OMIM:231680
Spondyloepiphyseal Dysplasia Congenita	Respiratory distress, Limited elbow movement, Hip dislocation, Coxa vara, Flattened epiphysis, Re...	OMIM:183900
Neurodegeneration With Brain Iron Accumulation 2B	Hyperactivity, Dystonia, Impulsivity, Dysmetria, Gait ataxia, Bradykinesia, Dysdiadochokinesis, D...	OMIM:610217
Brain-Lung-Thyroid Syndrome	Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Asthma, Re...	ORPHA:209905
Congenital Fiber-Type Disproportion Myopathy	Recurrent respiratory infections, Hip contracture, Congenital hip dislocation, Hypercapnia, Ankle...	ORPHA:2020
Atrial Septal Defect, Coronary Sinus Type	Cyanosis, Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Anomalous pulmonary venous...	ORPHA:99104
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Respiratory distress	ORPHA:261304
Encephalopathy, Ethylmalonic	Death in infancy, Acrocyanosis, Petechiae	OMIM:602473
Autosomal Dominant Hyper-Ige Syndrome	Osteopenia, Recurrent respiratory infections, Osteomyelitis, Recurrent fractures, Craniosynostosi...	ORPHA:2314
Boutonneuse Fever	Respiratory failure, Petechiae	ORPHA:83313
Poems Syndrome	Sclerosis of hand bone, Sclerosis of foot bone, Respiratory insufficiency due to muscle weakness,...	ORPHA:2905
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Hyperactivity, Broad-based gait, Ataxia, Abnormal eating behavior, Tremor, Tongue thrusting, Gait...	ORPHA:98794
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Joint laxity, Long toe, Overlapping toe, Flexion contracture, Respiratory failure, Coat hanger si...	ORPHA:254528
Farber Disease	Respiratory distress, Nodular pattern on pulmonary HRCT, Atelectasis, Short toe, Recurrent upper ...	ORPHA:333
Esophageal Atresia	Respiratory distress, Recurrent respiratory infections, Cyanosis, Bronchitis, Clinodactyly, Episo...	ORPHA:1199
Agnathia-Otocephaly Complex	Respiratory distress, Pulmonary hypoplasia, Tracheomalacia	OMIM:202650
Congenital Fibrinogen Deficiency	Clubbing of fingers, Cyanosis, Bruising susceptibility, Subcutaneous hemorrhage	ORPHA:335
Atrial Septal Defect, Ostium Secundum Type	Orthopnea, Cyanosis, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance,...	ORPHA:99103
Campomelic Dysplasia	Respiratory distress, Apnea, Anterior tibial bowing, Delayed epiphyseal ossification, Patellar hy...	OMIM:114290
Absence Of The Pulmonary Artery	Recurrent respiratory infections, Orthopnea, Cyanosis, Nonproductive cough, Dyspnea, Recurrent pn...	ORPHA:980
Cleidocranial Dysplasia 1	Respiratory distress, Neonatal respiratory distress, Increased bone mineral density, Hypoplastic ...	OMIM:119600
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Respiratory distress, Recurrent respiratory infections, Osteopenia, Contractures of the large joints	ORPHA:329178
Glycogen Storage Disease Due To Acid Maltase Deficiency	Respiratory distress, Orthopnea, Respiratory tract infection, Atelectasis, Respiratory insufficie...	ORPHA:365
Craniofaciofrontodigital Syndrome	Respiratory distress, Osteopenia, Prominent superficial veins, Joint laxity, Dyspnea, Osteoporosi...	ORPHA:363705
Stt3B-Cdg	Respiratory distress	ORPHA:370924
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Bradypnea, Respiratory failure, Death in childhood	OMIM:617186
Double Outlet Right Ventricle	Pulmonary artery atresia, Cyanosis, Tachypnea	ORPHA:3426
Tarp Syndrome	Finger syndactyly, Cyanosis, Apnea, Rocker bottom foot, Postaxial polydactyly, Hypoplasia of prox...	ORPHA:2886
Gaucher Disease, Perinatal Lethal	Respiratory distress, Apnea, Pulmonary hypoplasia, Neonatal death, Arthrogryposis multiplex conge...	OMIM:608013
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Respiratory distress, Recurrent respiratory infections, Overlapping toe, Flexion contracture, Ove...	OMIM:619383
Osteopetrosis, Autosomal Recessive 5	Increased bone mineral density, Cranial hyperostosis, Flared metaphysis, Respiratory failure, Sti...	OMIM:259720
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Respiratory distress	ORPHA:289916
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Pulmonary arterial hypertension, Respiratory failure, Respiratory insufficiency	OMIM:613845
Mucopolysaccharidosis-Plus Syndrome	Respiratory distress, Recurrent respiratory infections, Recurrent bronchopulmonary infections, Me...	OMIM:617303
Nasolacrimal Duct Cyst	Intercostal retractions, Episodic respiratory distress, Stridor, Paroxysmal dyspnea, Abnormal bre...	ORPHA:141083
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Recurrent respiratory infections, Cyanosis, Aortopulmonary window, Pulmonary hypoplasia, Pulmonar...	ORPHA:99050
Congenital Disorder Of Glycosylation, Type Ig	Respiratory distress, Short humerus, Short femur, Sandal gap, Recurrent upper respiratory tract i...	OMIM:607143
Dravet Syndrome	Limited knee extension, Cyanotic episode, Tibial torsion	ORPHA:33069
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Inability to walk, Exaggerated startle response	OMIM:609541
Pitt-Hopkins-Like Syndrome 1	Hyperactivity, Ataxia, Aggressive behavior, Attention deficit hyperactivity disorder, Abnormal re...	OMIM:610042
Goodpasture Syndrome	Cyanosis, Nodular pattern on pulmonary HRCT, Crackles, Increased DLCO, Tachypnea, Restrictive ven...	OMIM:233450
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Respiratory failure, Osteopetrosis	ORPHA:3240
Ear-Patella-Short Stature Syndrome	Respiratory distress, Camptodactyly of finger, Aplastic clavicle, Craniosynostosis, Dyspnea, Pate...	ORPHA:2554
Nocardiosis	Respiratory distress, Osteomyelitis, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, E...	ORPHA:31204
Multiple Acyl-Coa Dehydrogenase Deficiency	Dyspnea, Restrictive ventilatory defect, Respiratory failure, Cardiorespiratory arrest	ORPHA:26791
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Flexion contracture, Tibial bowing, Hypoplastic iliac wing, Small proximal tibial epiphyses, Shor...	ORPHA:96334
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Recurrent respiratory infections, Atelectasis, Tachypnea, Respiratory insufficiency, Respiratory ...	OMIM:618278
Pulmonary Hypertension, Primary, 1	Increased pulmonary vascular resistance, Dyspnea, Pulmonary arterial medial hypertrophy, Pulmonar...	OMIM:178600
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Respiratory failure, Death in childhood	OMIM:619847
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Respiratory distress	ORPHA:79312
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Clubbing of fingers, Cyanosis, 2-3 toe syndactyly, Clubbing of toes	ORPHA:3304
Pfeiffer Syndrome Type 3	Respiratory distress, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hall...	ORPHA:93260
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Respiratory failure requiring assisted ventilation, Congenital hip dislocation, Fractures of the ...	ORPHA:496641
Inhalational Anthrax	Respiratory distress, Dyspnea	ORPHA:247257
Stüve-Wiedemann Syndrome	Respiratory distress, Osteopenia, Flexion contracture of finger, Bowing of the long bones, Apnea,...	ORPHA:3206
Tetanus	Respiratory distress, Tachypnea, Stiff neck	ORPHA:3299
Spastic Tetraplegia And Axial Hypotonia, Progressive	Exaggerated startle response, Ataxia	OMIM:618598
Rodrigues Blindness	Ectodermal dysplasia, Nasal flaring	OMIM:268320
Joubert Syndrome 21	Apnea, Dyspnea, Respiratory failure, Pulmonary hypoplasia, Short ribs, Chronic sinusitis	OMIM:615636
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Inability to walk, Exaggerated startle response	OMIM:620114
Fructose-1,6-Bisphosphatase Deficiency	Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Apneic episodes...	ORPHA:348
Microlissencephaly-Micromelia Syndrome	Respiratory distress, 11 pairs of ribs, Adducted thumb	ORPHA:50810
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Respiratory distress, Syndactyly, Neonatal respiratory distress, Proximal placement of thumb, Sho...	OMIM:217980
Holocarboxylase Synthetase Deficiency	Respiratory distress, Tachypnea	ORPHA:79242
Telangiectasia, Hereditary Hemorrhagic, Type 1	Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Pulmonary arteriovenou...	OMIM:187300
Ethylene Glycol Poisoning	Cyanosis, Tachypnea, Episodic respiratory distress, Abnormal pattern of respiration, Pulmonary edema	ORPHA:31826
Congenital Myopathy 22B, Severe Fetal	Respiratory distress, Hip contracture, Limb joint contracture, Shoulder flexion contracture, Tape...	OMIM:620369
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Exaggerated startle response, Difficulty walking	ORPHA:320406
Neurodegeneration And Seizures Due To Copper Transport Defect	Respiratory distress, Short femur, Pneumothorax, Pulmonary hypoplasia, Short tibia	OMIM:620306
Hsd10 Disease, Infantile Type	Cyanosis	ORPHA:391428
Kallmann Syndrome-Heart Disease Syndrome	Osteopenia, Pulmonary artery hypoplasia, Cyanosis, Osteoporosis	ORPHA:2326
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Cyanosis, Apnea	OMIM:619580
Episodic Ataxia Type 1	Respiratory distress	ORPHA:37612
Hyperimmunoglobulinemia D With Periodic Fever	Erythema, Limitation of joint mobility, Urticaria, Arthritis, Acrocyanosis, Purpura	ORPHA:343
Rajab Interstitial Lung Disease With Brain Calcifications 1	Osteopenia, Joint laxity, Tachypnea, Rickets, Abnormal pulmonary interstitial morphology, Respira...	OMIM:613658
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Osteopenia, Abnormally ossified vertebrae, Brachydactyly, Abnormal distal phalanx morphology of f...	ORPHA:2636
Ulbright-Hodes Syndrome	Respiratory distress, Short humerus, Short metacarpal, Pneumothorax, Humeroradial synostosis, Abn...	ORPHA:3404
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Elbow contracture, Short metatarsal, Femoral bowing, Tibial bowing, S...	OMIM:304120
3-Methylglutaconic Aciduria Type 7	Respiratory failure, Pneumothorax	ORPHA:445038
Osteoglophonic Dysplasia	Respiratory distress, Osteopenia, Short metacarpal, Hypoplastic scapulae, Bowing of the long bone...	OMIM:166250
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Respiratory failure, Limb joint contracture	OMIM:620327
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Respiratory distress	ORPHA:927
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Pneumonia, Episodic tachypnea, Jaundice, Tachypnea	ORPHA:26793
Scimitar Syndrome	Respiratory distress, Recurrent respiratory infections, Abnormal lung morphology, Partial anomalo...	ORPHA:185
Mitochondrial Trifunctional Protein Deficiency 1	Respiratory failure, Respiratory insufficiency	OMIM:609015
Carnitine Deficiency, Systemic Primary	Respiratory distress	OMIM:212140
Combined Oxidative Phosphorylation Deficiency 3	Death in infancy, Dyspnea, Respiratory insufficiency, Respiratory failure, Death in childhood	OMIM:610505
Lymphatic Malformation 7	Respiratory distress, Pleural effusion, Chylothorax, Pulmonary edema	OMIM:617300
Eosinophilic Fasciitis	Arthritis, Acrocyanosis	ORPHA:3165
Hereditary Angioedema Type 1	Respiratory distress, Dyspnea, Urticaria, Dermatographic urticaria, Inspiratory stridor	ORPHA:100050
Lujo Hemorrhagic Fever	Respiratory distress, Stiff neck, Crackles, Atelectasis, Nonproductive cough, Rhinitis, Ecchymosi...	ORPHA:319213
Infantile Krabbe Disease	Respiratory distress, Respiratory failure	ORPHA:206436
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Hyperactivity, Hypokalemia, Self-biting, Hypomagnesemia	OMIM:618314
Mitochondrial Trifunctional Protein Deficiency	Respiratory failure, Respiratory insufficiency, Equinus calcaneus	ORPHA:746
Bacterial Toxic-Shock Syndrome	Respiratory distress, Sinusitis, Osteomyelitis, Pneumonia, Respiratory tract infection, Tachypnea...	ORPHA:36234
Isolated Atp Synthase Deficiency	Respiratory distress	ORPHA:254913
Glycogen Storage Disease Of Heart, Lethal Congenital	Respiratory distress, Cyanosis, Apnea, Pleural effusion, Pulmonary edema	OMIM:261740
Short-Rib Thoracic Dysplasia 12	Hypoplastic scapulae, Bowing of the legs, Atelectasis, Short toe, Respiratory insufficiency, Shor...	OMIM:269860
Bickerstaff Brainstem Encephalitis	Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Respiratory tract inf...	ORPHA:79138
Ciliary Dyskinesia, Primary, 1	Pneumonia, Atelectasis, Bronchiectasis, Immotile cilia, Chronic rhinitis, Ciliary dyskinesia, Chr...	OMIM:244400
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Respiratory distress, Recurrent respiratory infections, Joint laxity, Postaxial polydactyly, Tape...	OMIM:300968
Cryptococcosis	Respiratory distress, Osteomyelitis, Pneumonia, Nodular pattern on pulmonary HRCT, Dyspnea, Osteo...	ORPHA:1546
Combined Oxidative Phosphorylation Deficiency 19	Respiratory distress, Stridor	OMIM:615595
Myhre Syndrome	Vertebral fusion, Overlapping toe, Joint stiffness, Short toe, Limitation of joint mobility, 2-3 ...	OMIM:139210
Myotonic Dystrophy 1	Respiratory distress	OMIM:160900
Hyperekplexia-Epilepsy Syndrome	Exaggerated startle response	ORPHA:163985
Leukodystrophy, Hypomyelinating, 13	Exaggerated startle response, Ataxia	OMIM:616881
Malignant Atrophic Papulosis	Pleural effusion, Telangiectasia of the skin, Respiratory failure	ORPHA:679
Ethylmalonic Encephalopathy	Acrocyanosis, Petechiae	ORPHA:51188
Tay-Sachs Disease	Exaggerated startle response, Dystonia, Increased serum beta-hexosaminidase, Tremor, Inability to...	ORPHA:845
Listeriosis	Respiratory distress, Stiff neck, Miscarriage, Pneumonia, Osteomyelitis, Jaundice, Respiratory fa...	ORPHA:533
Mitochondrial Complex I Deficiency, Nuclear Type 1	Death in infancy, Cyanosis, Apnea, Respiratory insufficiency, Respiratory failure	OMIM:252010
Mitochondrial Complex I Deficiency, Nuclear Type 37	Respiratory distress, Pulmonary arterial hypertension	OMIM:619272
Myasthenia Gravis	Dyspnea, Acrocyanosis, Rheumatoid arthritis	ORPHA:589
Bloom Syndrome	Pneumonia, Bronchitis, Respiratory tract infection, Chronic pulmonary obstruction, Telangiectasia...	ORPHA:125
Methemoglobinemia And Ambiguous Genitalia	Cyanosis	OMIM:250790
Hemorrhagic Fever-Renal Syndrome	Respiratory distress, Pneumonia, Epistaxis, Dyspnea, Respiratory failure, Cough, Ecchymosis, Pleu...	ORPHA:340
Idiopathic Hypereosinophilic Syndrome	Respiratory distress, Myelofibrosis, Cutis marmorata, Swelling of proximal interphalangeal joints...	ORPHA:3260
Pelizaeus-Merzbacher Disease, Connatal Form	Respiratory failure	ORPHA:280210
Neurodegeneration With Brain Iron Accumulation 1	Hyperactivity, Dystonia, Ataxia, Akinesia, Tremor, Phonic tics, Choreoathetosis, Bradykinesia, Bl...	OMIM:234200
Mogs-Cdg	Respiratory distress, Hypoventilation, Apnea, Overlapping fingers, Pulmonary edema	ORPHA:79330
Thrombotic Thrombocytopenic Purpura, Hereditary	Respiratory distress, Jaundice, Prolonged neonatal jaundice	OMIM:274150
Structural Heart Defects And Renal Anomalies Syndrome	Partial anomalous pulmonary venous return, Cyanosis, Overlapping toe, Death in infancy	OMIM:617478
Telangiectasia, Hereditary Hemorrhagic, Type 4	Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Pulmonary arteriovenous ...	OMIM:610655
Pulmonary Hypertension, Primary, 3	Increased pulmonary vascular resistance, Dyspnea, Elevated pulmonary artery pressure, Pulmonary a...	OMIM:615343
Mandibulofacial Dysostosis, Guion-Almeida Type	Respiratory distress, Preaxial hand polydactyly, Slender finger, Proximal placement of thumb	OMIM:610536
Double Outlet Left Ventricle	Pulmonary artery stenosis, Cyanosis, Tachypnea	ORPHA:3427
Severe Generalized Junctional Epidermolysis Bullosa	Respiratory distress, Pneumonia, Abnormal fingertip morphology, Dyspnea, Pneumothorax, Osteoporos...	ORPHA:79404
Primary Dystonia, Dyt4 Type	Respiratory distress	ORPHA:98805
Ciliary Dyskinesia, Primary, 20	Recurrent respiratory infections, Productive cough, Atelectasis, Pulmonary artery stenosis, Recur...	OMIM:615067
Combined Oxidative Phosphorylation Deficiency 37	Respiratory failure, Respiratory insufficiency	OMIM:618329
Poliomyelitis	Respiratory failure requiring assisted ventilation, Respiratory failure, Stiff neck	ORPHA:2912
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Broad-based gait, Ataxia, Exaggerated startle response, Dystonia	ORPHA:438216
S-Adenosylhomocysteine Hydrolase Deficiency	Respiratory failure	ORPHA:88618
Chromosome 6Q24-Q25 Deletion Syndrome	Respiratory distress, Prominent fingertip pads, Small hand, Sandal gap	OMIM:612863
Telangiectasia, Hereditary Hemorrhagic, Type 2	Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Nail bed telangiectasia,...	OMIM:600376
Cardiomyopathy, Familial Hypertrophic, 4	Respiratory distress, Dyspnea, Pulmonary edema	OMIM:115197
Q Fever	Respiratory distress, Osteomyelitis, Pneumonia, Abnormal pulmonary interstitial morphology, Cough...	ORPHA:781
Cutis Laxa, Autosomal Recessive, Type Ic	Osteopenia, Death in infancy, Joint laxity, Sandal gap, Progeroid facial appearance, Atelectasis,...	OMIM:613177
Oromandibular Dystonia	Respiratory distress	ORPHA:93958
Leigh Syndrome	Respiratory failure, Multiple joint contractures, Abnormal pattern of respiration	ORPHA:506
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Cyanosis, Genu valgum	ORPHA:488627
Histidinemia	Hyperactivity, Hyperhistidinemia	ORPHA:2157
3-Methylglutaconic Aciduria, Type Viib	Respiratory distress, Recurrent pneumonia, Flexion contracture	OMIM:616271
Neuromuscular Oculoauditory Syndrome	Respiratory distress, Aspiration, Wrist flexion contracture, Knee flexion contracture	OMIM:618733
Truncus Arteriosus	Cyanosis, Anomalous origin of one pulmonary artery from ascending aorta, Pulmonary artery stenosi...	ORPHA:3384
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Respiratory distress	OMIM:606164
Dermatomyositis	Recurrent respiratory infections, Telangiectasia of the skin, Erythema, Abnormal pulmonary inters...	ORPHA:221
Toxic Epidermal Necrolysis	Respiratory distress, Recurrent respiratory infections, Abnormal pleura morphology, Erythema, Res...	ORPHA:537
Unilateral Polymicrogyria	Cyanosis, Apnea, Epistaxis, Pulmonary arteriovenous malformation	ORPHA:268943
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Respiratory distress	OMIM:251000
Congenital Total Pulmonary Venous Return Anomaly	Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve...	ORPHA:99125
Aortic Arch Interruption	Respiratory distress, Cyanosis, Tachypnea, Aortopulmonary window, Exertional dyspnea	ORPHA:2299
Hutchinson-Gilford Progeria Syndrome	Limitation of movement at ankles, Prominent superficial blood vessels, Cyanosis, Joint stiffness,...	ORPHA:740
Japanese Encephalitis	Respiratory distress, Pulmonary edema, Stiff neck, Elbow flexion contracture, Respiratory paralys...	ORPHA:79139
Aicardi-Goutieres Syndrome 1	Erythema, Prolonged neonatal jaundice, Acrocyanosis, Petechiae, Purpura	OMIM:225750
Congenital Enterovirus Infection	Respiratory distress, Pleural effusion	ORPHA:292
Oculopharyngodistal Myopathy 1	Respiratory distress, Hypercapnia, Reduced forced vital capacity, Respiratory insufficiency due t...	OMIM:164310
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Inability to walk, Exaggerated startle response	OMIM:617864
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Respiratory failure	OMIM:616538
Acquired Purpura Fulminans	Acrocyanosis, Macular purpura	ORPHA:49566
Histiocytoid Cardiomyopathy	Cough, Cyanosis, Tachypnea, Pulmonary edema	ORPHA:137675
Developmental And Epileptic Encephalopathy 8	Exaggerated startle response	OMIM:300607
Adnp Syndrome	Respiratory distress, Joint laxity, Broad hallux, Sandal gap, Abnormal toe morphology, Recurrent ...	ORPHA:404448
Beare-Stevenson Cutis Gyrata Syndrome	Respiratory distress, Overlapping toe, Craniosynostosis, Palmoplantar cutis laxa, Limited elbow e...	OMIM:123790
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Respiratory distress	ORPHA:990
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Recurrent infections due to aspiration, Decreased sensitivity to hypoxemia, Acrocyanosis	OMIM:223900
Mitochondrial Complex I Deficiency, Nuclear Type 32	Respiratory failure, Death in childhood	OMIM:618252
Coccidioidomycosis	Respiratory distress, Osteomyelitis, Pneumonia, Osteolysis, Abnormal long bone morphology, Arthri...	ORPHA:228123
Familial Dysautonomia	Recurrent respiratory infections, Recurrent fractures, Abnormal pleura morphology, Osteolysis, Ac...	ORPHA:1764
Hyperekplexia 2	Exaggerated startle response	OMIM:614619
Argininemia	Hyperactivity, Anorexia, Hyperammonemia, Hyperargininemia, Spastic gait	OMIM:207800
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Respiratory distress, Craniosynostosis	ORPHA:1555
Heterotaxy, Visceral, 1, X-Linked	Respiratory distress, Bilateral trilobed lung, Congenital hip dislocation, Cyanosis, Block verteb...	OMIM:306955
Choreoacanthocytosis	Elevated circulating creatine kinase concentration, Compulsive behaviors, Limb dystonia, Loss of ...	ORPHA:2388
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Erythema, ...	OMIM:614748
Mgat2-Cdg	Respiratory distress, Osteopenia, Recurrent upper and lower respiratory tract infections, Brachyd...	ORPHA:79329
Nijmegen Breakage Syndrome	Recurrent sinopulmonary infections, Recurrent respiratory infections, Recurrent pneumonia, Respir...	ORPHA:647
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Respiratory distress, Recurrent respiratory infections, Joint stiffness, Flexion contracture, Str...	ORPHA:505248
Heterotaxy, Visceral, 7, Autosomal	Pulmonary artery atresia, Pulmonary artery hypoplasia, Cyanosis, Total anomalous pulmonary venous...	OMIM:616749
Cocaine Intoxication	Respiratory distress, Diffuse alveolar hemorrhage, Hyperventilation, Wheezing, Pneumothorax, Tach...	ORPHA:90068
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hypoventilation, Cyanosis, Central hypoventilation, Asthma, Recurrent upper respiratory tract inf...	ORPHA:293987
Diamond-Blackfan Anemia 10	Respiratory distress, Supernumerary ribs	OMIM:613309
Pitt-Hopkins Syndrome	Tapered finger, Broad fingertip, Short metatarsal, Small hand, Finger clinodactyly, Acrocyanosis,...	ORPHA:2896
Prader-Willi Syndrome Due To Translocation	Respiratory distress, Recurrent respiratory infections, Overlapping toe, Small hand, Short foot, ...	ORPHA:177907
Hyperekplexia 3	Exaggerated startle response	OMIM:614618
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Respiratory distress, Postaxial polydactyly, Postaxial hand polydactyly, Cone-shaped epiphysis, S...	OMIM:617088
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Respiratory distress, Death in infancy, Jaundice	OMIM:617156
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Respiratory distress, Recurrent respiratory infections, Osteomyelitis, Pneumonia, Urticaria, Inte...	ORPHA:37042
Lymphangioleiomyomatosis	Recurrent respiratory infections, Atelectasis, Dyspnea, Pneumothorax, Restrictive ventilatory def...	ORPHA:538
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Respiratory distress, Recurrent respiratory infections, Short humerus, Short femur, Apnea, Flexio...	ORPHA:17
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Hip contracture, Death in infancy, Flexion contracture, Elbow flexion contracture, Knee flexion c...	OMIM:300868
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Respiratory distress, Jaundice, Osteomyelitis leading to amputation due to slow healing fractures...	OMIM:256810
Tuberous Sclerosis Complex	Respiratory distress, Respiratory tract infection, Respiratory failure, Generalized abnormality o...	ORPHA:805
Cardiac Valvular Dysplasia 2	Central cyanosis, Pulmonary artery dilatation	OMIM:620067
Biotinidase Deficiency	Respiratory distress, Apnea, Hyperventilation	ORPHA:79241
Pachyonychia Congenita	Respiratory distress	ORPHA:2309
Eisenmenger Syndrome	Respiratory distress, Cyanosis, Increased pulmonary vascular resistance, Wheezing, Clubbing, Aort...	ORPHA:97214
Kasabach-Merritt Syndrome	Respiratory distress, Hypopnea, Petechiae, Purpura	ORPHA:2330
Alternating Hemiplegia Of Childhood	Respiratory distress, Aspiration, Apnea, Flushing	ORPHA:2131
Sandhoff Disease	Exaggerated startle response, Ataxia	OMIM:268800
Stiff-Person Syndrome	Exaggerated startle response, Opisthotonus	OMIM:184850
Developmental And Epileptic Encephalopathy 49	Hyperactivity, Exaggerated startle response	OMIM:617281
Methylmalonic Aciduria, Cblb Type	Respiratory distress	OMIM:251110
Arboleda-Tham Syndrome	Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Brachydact...	OMIM:616268
Autosomal Recessive Polycystic Kidney Disease	Hypoventilation, Spontaneous pneumothorax, Jaundice, Recurrent pneumonia, Respiratory failure, Pu...	ORPHA:731
Relapsing Polychondritis	Atelectasis, Dyspnea, Erythema, Limitation of joint mobility, Arthritis, Cough, Abnormal pattern ...	ORPHA:728
Abetalipoproteinemia	Osteopenia, Respiratory failure	ORPHA:14
Auriculocondylar Syndrome	Respiratory distress	ORPHA:137888
Fraser Syndrome 2	Respiratory failure, Cutaneous syndactyly	OMIM:617666
Hyperekplexia 1	Exaggerated startle response	OMIM:149400
Tay-Sachs Disease	Exaggerated startle response	OMIM:272800
Fucosidosis	Acrocyanosis, Vascular skin abnormality	ORPHA:349
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Unilateral lung agenesis, Arachnodactyly, Sagittal craniosynostosis, Absent thumb, Hyperextensibl...	ORPHA:500150
Colchicine Poisoning	Respiratory distress, Cardiorespiratory arrest	ORPHA:31824
Schinzel-Giedion Syndrome	Respiratory distress, Overlapping fingers, Overlapping toe, Recurrent pneumonia, Hypoplastic pubi...	ORPHA:798
Costello Syndrome	Hyperextensibility of the finger joints, Limited elbow movement, Achilles tendon contracture, Pne...	OMIM:218040
Familial Gestational Hyperthyroidism	Hyperactivity, Agitation, Hand tremor	ORPHA:99819
Niemann-Pick Disease Type C	Jaundice, Abnormal lung morphology, Respiratory insufficiency, Respiratory failure, Aspiration pn...	ORPHA:646
Rubinstein-Taybi Syndrome 1	Respiratory distress, Syndactyly, Joint laxity, Broad hallux phalanx, Broad hallux, Respiratory t...	OMIM:180849
Congenital Disorder Of Deglycosylation 1	Respiratory distress, Recurrent respiratory infections, Osteoporosis, Small hand, Short foot	OMIM:615273
Gm2-Gangliosidosis, Ab Variant	Exaggerated startle response, Dystonia	OMIM:272750
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Respiratory distress, Pulmonary arterial hypertension, Jaundice, Pulmonary embolism	ORPHA:79282
Methylmalonic Aciduria, Cbla Type	Respiratory distress	OMIM:251100
Microphthalmia With Linear Skin Defects Syndrome	Respiratory distress, Dyspnea, Respiratory failure, Erythema	ORPHA:2556
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Exaggerated startle response	OMIM:608800
Sandhoff Disease, Infantile Form	Exaggerated startle response	ORPHA:309155
Hyperoxaluria, Primary, Type I	Pathologic fracture, Increased bone mineral density, Acrocyanosis, Cutis marmorata	OMIM:259900
Congenital Alveolar Capillary Dysplasia	Respiratory distress, Pulmonary arterial hypertension	ORPHA:210122
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Respiratory distress, Arachnodactyly, Overlapping toe, Contracture of the distal interphalangeal ...	ORPHA:83617
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Respiratory distress, Rhinitis, Hypohidrotic ectodermal dysplasia, Periorbital wrinkles	OMIM:305100
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Exaggerated startle response, Elevated circulating creatine kinase concentration	OMIM:253800
8Q24.3 Microdeletion Syndrome	Respiratory distress, Long toe, Joint laxity, Congenital hip dislocation, Short femur, Rocker bot...	ORPHA:508488
Postinfectious Vasculitis	Palpable purpura, Cutis marmorata, Pneumonia, Arthritis, Vasculitis in the skin, Acrocyanosis, Re...	ORPHA:48435
Ramos-Arroyo Syndrome	Respiratory distress	ORPHA:1051
Generalized Arterial Calcification Of Infancy	Respiratory distress, Cyanosis, Osteomalacia, Stippled calcification of the shoulder, Abnormal ca...	ORPHA:51608
Plaa-Associated Neurodevelopmental Disorder	Impaired oropharyngeal swallow response, Exaggerated startle response, Dystonia	ORPHA:521426
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Respiratory distress, Osteopenia, Hallux valgus, Congenital hip dislocation, Hyperextensible thum...	ORPHA:480880
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Respiratory distress, Metaphyseal chondromatosis of tibia, Metaphyseal dysplasia, Multiple joint ...	ORPHA:99646
Mitochondrial Dna-Associated Leigh Syndrome	Dyspnea, Episodic respiratory distress, Apnea, Hyperventilation	ORPHA:255210
Steinert Myotonic Dystrophy	Respiratory insufficiency due to muscle weakness, Respiratory failure requiring assisted ventilat...	ORPHA:273
Whim Syndrome	Sinusitis, Pneumonia, Respiratory tract infection, Atelectasis, Recurrent upper respiratory tract...	ORPHA:51636
Asparagine Synthetase Deficiency	Tremor, Exaggerated startle response, Hypoasparaginemia	OMIM:615574
Granulomatous Disease, Chronic, X-Linked	Osteomyelitis, Atelectasis, Recurrent pneumonia, Cough, Pleural effusion	OMIM:306400
Isolated Arrhinia	Respiratory distress	ORPHA:1134
Primary Hyperoxaluria	Generalized osteosclerosis, Acrocyanosis, Cutis marmorata, Recurrent fractures	ORPHA:416
Doors Syndrome	Respiratory distress, 11 pairs of ribs, Aplasia/Hypoplasia of the phalanges of the 2nd toe, Sagit...	ORPHA:79500
Classical Ehlers-Danlos Syndrome	Osteopenia, Prematurely aged appearance, Phalangeal dislocation, Poor wound healing, Osteoarthrit...	ORPHA:287
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Exaggerated startle response, Dysphagia	OMIM:617527
Leptospirosis	Respiratory distress, Jaundice, Cough, Pleural effusion, Pulmonary hemorrhage	ORPHA:509
Oculocerebrorenal Syndrome Of Lowe	Recurrent respiratory infections, Death in infancy, Osteomalacia, Recurrent fractures, Joint stif...	ORPHA:534
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Asthma, Nasal flaring, Brachydactyly, Short palm	ORPHA:466943
Gm1 Gangliosidosis Type 1	Exaggerated startle response, Dystonia	ORPHA:79255
Coffin-Lowry Syndrome	Hyperextensibility of the finger joints, Short metacarpal, Bifid sternum, Cutis marmorata, Tapere...	OMIM:303600
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia, Rhinitis, Co...	ORPHA:95455
Zygomycosis	Sinusitis, Epistaxis, Atelectasis, Pneumothorax, Osteolysis, Acute infectious pneumonia, Cough, P...	ORPHA:73263
Hypermobile Ehlers-Danlos Syndrome	Apnea, Osteoarthritis, Limitation of joint mobility, Hip dislocation, Osteolysis, Joint hyperflex...	ORPHA:285
Aicardi-Goutières Syndrome	Multiple joint contractures, Cutis marmorata, Arthritis, Prolonged neonatal jaundice, Acrocyanosis	ORPHA:51
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Respiratory distress, Pulmonary artery stenosis, Cervical ribs	ORPHA:2255
22Q11.2 Deletion Syndrome	Arachnodactyly, Atelectasis, Asthma, Chronic pulmonary obstruction, Abnormal lung lobation, Multi...	ORPHA:567
Cardiac Valvular Dysplasia 1	Pulmonary artery atresia, Cyanosis	OMIM:212093
Gitelman Syndrome	Respiratory distress, Gout	ORPHA:358
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Broad-based gait, Exaggerated startle response, Dystonia, Decreased serum iron, Inability to walk...	ORPHA:438213
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Exaggerated startle response, Dysphagia	OMIM:618367
Plague	Acute infectious pneumonia, Arthritis, Respiratory distress	ORPHA:707
Congenitally Corrected Transposition Of The Great Arteries	Pulmonary artery atresia, Cyanosis	ORPHA:216694
Chand Syndrome	Atelectasis, Short fifth metatarsal	ORPHA:1401
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Exaggerated startle response, Abnormal repetitive mannerisms, Attention deficit hyperactivity dis...	OMIM:619522
Pmm2-Cdg	Respiratory distress, Osteopenia, Joint laxity, Multiple joint contractures, Long fingers, Abnorm...	ORPHA:79318
Digeorge Syndrome	Atelectasis, Asthma, Recurrent pneumonia, Chronic pulmonary obstruction, Recurrent sinusitis	OMIM:188400
Alström Syndrome	Respiratory distress, Dorsocervical fat pad, Short toe, Recurrent upper respiratory tract infecti...	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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