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Gene: Sulf2 MGI:1919293

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
sulfatase 2
Synonyms:
2010004N24Rik

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Sulf2 mutations

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

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

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

The table below shows human diseases predicted to be associated to Sulf2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Esophageal Cancer
Esophageal carcinoma OMIM:133239
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies, Posteri... ORPHA:2064
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Oocyte/Zygote/Embryo Maturation Arrest 14
Oocyte maturation arrest, Female infertility OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Lack of oocyte pronucleus formation, Female infertility OMIM:617996
Multiple Synostoses Syndrome 2
Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Proximal symp... OMIM:610017
Microcephaly With Cervical Spine Fusion Anomalies
Vertebral fusion, Spinal instability OMIM:251250
Second Metatarsal-Metacarpal Syndrome
Platyspondyly, Synostosis of carpals/tarsals, Abnormal metacarpal morphology OMIM:269630
Spondylocostal Dysostosis 5
Vertebral fusion, Low back pain, Short neck, Missing ribs, Hemivertebrae, Posterior rib fusion, S... OMIM:122600
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosi... OMIM:277300
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Bronchopulmonary Dysplasia
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Small fo... ORPHA:70589
Pulmonary Blastoma
Pleuropulmonary blastoma, Dyspnea, Recurrent pneumonia, Weight loss, Cough ORPHA:64741
Klippel-Feil Syndrome 3, Autosomal Dominant
Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion OMIM:613702
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Absent phalangeal c... OMIM:618469
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Upper airway obstruction, Weight loss, Aspiration pneumonia ORPHA:141152
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Oocyte/Zygote/Embryo Maturation Arrest 18
Female infertility OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19
Female infertility OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Progesterone Resistance
Female infertility OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Abnormal sacrum morphology, Fused cervical vertebrae, Short middle phalanx of finger, Scoliosis, ... ORPHA:1436
Brachydactyly, Type B1
Type B brachydactyly, Vertebral fusion, Syndactyly, Hypoplastic sacrum, Thoracolumbar scoliosis, ... OMIM:113000
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Type II pneumocyte hypertrophy, Desquamative interstitial pneumonitis, Tach... OMIM:263000
Pleural Mesothelioma
Respiratory distress, Abnormal pleura morphology, Dyspnea, Abnormal lung morphology, Abnormal res... ORPHA:50251
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Apnea, Crazy paving pattern, Nodular pattern on pulmonary HRCT, Tachypnea, ... OMIM:610921
Diaphanospondylodysostosis
Missing ribs, Short neck, Narrow pelvis bone, Absent or minimally ossified vertebral bodies, Abno... ORPHA:66637
Recurrent Respiratory Papillomatosis
Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction... ORPHA:60032
Immunodeficiency 95
Respiratory distress, Recurrent respiratory infections, Respiratory failure, Recurrent viral pneu... OMIM:619773
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Oocyte/Zygote/Embryo Maturation Arrest 17
Female infertility, Amenorrhea OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Female infertility, Amenorrhea OMIM:620383
Spondylocostal Dysostosis 3, Autosomal Recessive
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ... OMIM:609813
Spondylocostal Dysostosis 6, Autosomal Recessive
Cervical kyphosis, Hemivertebrae, Spinal canal stenosis, Scoliosis, Butterfly vertebrae OMIM:616566
Muscular Hypertonia, Lethal
Respiratory distress, Umbilical hernia, Pneumonia OMIM:254120
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Acrodysplasia Scoliosis
Vertebral segmentation defect, Spina bifida occulta, Scoliosis, Brachydactyly ORPHA:2956
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Prominent metopic ridge, Fused cervical vertebrae, Short middle phalanx of finger, Scoliosis, Tho... OMIM:309620
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Neonatal respiratory distress, Dyspnea, Atelectasis, Tachypnea, Pulmonary e... OMIM:267450
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Respiratory failure requiring assisted ventilation, Crazy paving pattern, F... ORPHA:264675
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... OMIM:610913
Tracheoesophageal Fistula With Or Without Esophageal Atresia
Esophageal atresia, Tracheoesophageal fistula OMIM:189960
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Otopalatodigital Syndrome Type 1
Increased bone mineral density, Bowing of the long bones, Sandal gap, Proximal placement of thumb... ORPHA:90650
Spondylocostal Dysostosis 2, Autosomal Recessive
Short neck, Vertebral clefting, Hemivertebrae, Rib fusion, Vertebral segmentation defect OMIM:608681
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... OMIM:619466
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Pneumonia, Reduced forced expiratory volume in one second, Reduced forced vital capacity, Dyspnea... ORPHA:1303
Isolated Klippel-Feil Syndrome
Short neck, Abnormal sacrum morphology, Abnormal rib morphology, Abnormal shoulder morphology, Ab... ORPHA:2345
Gastroesophageal Reflux
Esophageal neoplasm, Barrett esophagus, Gastroesophageal reflux, Esophagitis OMIM:109350
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Respiratory tract infection, Nonproductive cough, Dyspnea, Chronic pulmonary obstruction, Wheezin... ORPHA:79127
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Vertebral fusion, Sacral dimple, Short long bone, Vertebral segmentation defect OMIM:618845
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Failure to thrive, Lymphocytic interstitial pneumonia OMIM:245590
Barrett Esophagus
Esophageal ulceration, Esophageal carcinoma, Barrett esophagus, Gastroesophageal reflux OMIM:614266
Keratoconus Posticus Circumscriptus
Limited elbow extension and supination, Short neck, Clinodactyly of the 5th finger, Abnormal vert... OMIM:244600
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Crackles, Dyspnea, Chronic pulmonary obstruction, Pneumothorax, Bronchiecta... ORPHA:411703
Cryptogenic Organizing Pneumonia
Respiratory distress, Bronchial breath sound, Crackles, Nonproductive cough, Dyspnea, Wheezing, P... ORPHA:1302
Idiopathic Bronchiectasis
Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Cachexia, Abnormal re... ORPHA:60033
Bardet-Biedl Syndrome 16
Respiratory distress, Recurrent respiratory infections, Obesity, Bronchiolitis OMIM:615993
Stuve-Wiedemann Syndrome 2
Respiratory distress, Pulmonary arterial hypertension, Stillbirth, Neonatal death, Intrauterine g... OMIM:619751
Interstitial Lung Disease 2
Dyspnea, Alveolar cell carcinoma, Elevated bronchoalveolar lavage fluid neutrophil proportion, Pu... OMIM:178500
Severe Acute Respiratory Syndrome
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu... ORPHA:140896
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Chronic Pneumonitis Of Infancy
Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Tachypnea, Hypoxemi... ORPHA:91359
Familial Nasal Acilia
Respiratory distress, Dyspnea, Atelectasis, Recurrent upper respiratory tract infections, Bronchi... ORPHA:922
Interstitial Lung Disease 1
Nonspecific interstitial pneumonia, Crackles, Intralobular septal thickening, Dyspnea, Elevated b... OMIM:619611
Laryngotracheal Angioma
Respiratory distress, Intercostal retractions, Apnea, Wheezing, Stridor, Cough ORPHA:137935
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Vertebral fusion, Hip contracture, Elbow contracture, Multiple pterygia, Short neck, Craniosynost... OMIM:178110
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Respiratory insufficiency due to muscle weakness, Decreased body weight OMIM:300580
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Intrauterine growth retardation, Respiratory failure, Dyspnea ORPHA:1832
Surfactant Metabolism Dysfunction, Pulmonary, 1
Neonatal respiratory distress, Apnea, Dyspnea, Desquamative interstitial pneumonitis, Tachypnea, ... OMIM:265120
Portal Hypertension, Noncirrhotic, 1
Splenomegaly, Hepatomegaly, Esophageal varix OMIM:617068
Gaucher Disease Type 2
Respiratory distress, Recurrent respiratory infections, Abnormal pattern of respiration, Cough ORPHA:77260
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Short neck, Clinodactyly, Coxa vara, Reduced bone mineral density, Tibial bowing, Abnormal bone o... ORPHA:93315
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap... OMIM:254210
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Respiratory insufficiency, Restrictive ventilatory defect, Respiratory fail... OMIM:614399
Chronic Beryllium Disease
Lymphocytic interstitial pneumonia, Dyspnea, Hypersensitivity pneumonitis, Abnormality on pulmona... ORPHA:133
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ... OMIM:606842
Visceral Myopathy 2
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... OMIM:619350
Succinic Acidemia
Respiratory distress OMIM:600335
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Brachydactyly, Bifid distal phalanx of the thumb, Triangular shaped distal phalanx of the thumb, ... ORPHA:370010
Klippel-Feil Syndrome 2, Autosomal Recessive
Cervical C2/C3 vertebral fusion, Fused cervical vertebrae, Scoliosis, Short neck OMIM:214300
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap... OMIM:605809
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Intrauterine growth retardation, Failure to thrive ORPHA:26792
Kniest Dysplasia
Arthropathy, Enlarged epiphyses, Enlarged joints, Abnormality of the epiphysis of the femoral hea... ORPHA:485
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Pulmonary venous occlusion, Dyspnea, Pulmonary capillary hemangiomatosis, Cough, Decreased DLCO, ... OMIM:234810
Fibrodysplasia Ossificans Progressiva
Hallux valgus, Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ecto... OMIM:135100
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Abnormal peristalsis, Esophageal food impaction, Lactose intolerance, Esophageal stenosis, Eosino... ORPHA:411696
Kbg Syndrome
Vertebral fusion, Persistent open anterior fontanelle, Short neck, Delayed skeletal maturation, C... ORPHA:2332
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral fusion, Abnormal odontoid process morphology, Block vertebrae, Short neck, Missing ribs... OMIM:613686
Multiple Pterygium Syndrome, X-Linked
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Flexion cont... OMIM:312150
Meconium Aspiration Syndrome
Respiratory distress, Neonatal asphyxia, Wheezing, Pneumothorax, Atelectasis, Hypoxemia, Pulmonar... ORPHA:70588
Chromosome 8Q22.1 Duplication Syndrome
Hallux valgus, Enlarged interphalangeal joints, Short metacarpal, Genu recurvatum, Interphalangea... OMIM:151200
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Dyspnea, Tachypnea, Abnormal pulmonary interstitial morphology, Restrictive ventilatory defect, H... OMIM:616414
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Respiratory insufficiency ORPHA:238329
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Failure to thrive ORPHA:91130
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Vertebral fusion, Elbow dislocation, Kyphosis, Postaxial hand polydactyly, Hemivertebrae, Abnorma... ORPHA:2916
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Crackles, ... OMIM:610978
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Failure to thrive in infancy, Respiratory insufficiency due to muscle weakn... ORPHA:254875
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Anaplastic Thyroid Carcinoma
Respiratory distress, Dyspnea, Upper airway obstruction, Weight loss, Stridor, Neoplasm of the lu... ORPHA:142
Developmental And Speech Delay Due To Sox5 Deficiency
Vertebral fusion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, 2-3 toe syndactyly, Scoliosis, B... ORPHA:313892
Developmental And Epileptic Encephalopathy 30
Respiratory distress OMIM:616341
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Intrauterine growth retardation, Small for gestational age, Pulmonary hypop... OMIM:616733
Laryngomalacia
Respiratory distress, Congenital laryngeal stridor OMIM:150280
Multiple Pterygium Syndrome, Lethal Type
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Flexion cont... OMIM:253290
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Aplasia/Hypoplasia of the thumb, Short humerus, Elbow dislocation, Absent radius, Ulnar bowing, S... OMIM:171480
Ring Chromosome 21 Syndrome
Fused thoracic vertebrae, Syndactyly, Small hand, Scoliosis, Thoracic hemivertebrae, Clinodactyly ORPHA:1445
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
Klippel-Feil Syndrome 1, Autosomal Dominant
Short neck, Abnormal rib morphology, Scoliosis, Cervical C2/C3 vertebral fusion, Abnormal vertebr... OMIM:118100
Wildervanck Syndrome
Fused cervical vertebrae OMIM:314600
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Respiratory distress, Failure to thrive, Cachexia, Weight loss OMIM:612075
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Vertebral fusion, Block vertebrae, Short neck, Missing ribs, Hemivertebrae, Rib fusion, Thin ribs... OMIM:271520
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress, Failure to thrive OMIM:300934
Perching Syndrome
Respiratory distress OMIM:617055
Asbestos Intoxication
Reduced vital capacity, Lung adenocarcinoma, Reduced forced vital capacity, Nonproductive cough, ... ORPHA:2302
Cardiomyopathy, Dilated, 1Gg
Respiratory distress OMIM:613642
Thrombocytopenia-Absent Radius Syndrome
Finger syndactyly, Tibial torsion, Aplasia/Hypoplasia of the patella, Absent radius, Aplasia/hypo... ORPHA:3320
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Acute inf... ORPHA:36238
Acute Lung Injury
Respiratory distress, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea, Tachypnea, Abnormal pulmon... ORPHA:178320
Oculogastrointestinal Muscular Dystrophy
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-... ORPHA:1876
Stapes Ankylosis With Broad Thumbs And Toes
Toe syndactyly, Broad hallux, Proximal/middle symphalangism of 5th finger, Fused cervical vertebr... OMIM:184460
N-Acetylglutamate Synthase Deficiency
Respiratory distress, Failure to thrive OMIM:237310
Gorlin Syndrome
Vertebral fusion, Arachnodactyly, Hemivertebrae, Vertebral wedging, Scoliosis, Brachydactyly ORPHA:377
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Hyperlordosis, Short neck, Kyphosis, Abnormal rib morphology, Fused cervical vertebrae, Abnormal ... ORPHA:2522
Verheij Syndrome
Joint laxity, Vertebral fusion, Short neck, Hemivertebrae, Hip dislocation, Short 5th finger, Sco... OMIM:615583
Spondylocarpotarsal Synostosis Syndrome
Vertebral fusion, Short metacarpal, Epiphyseal dysplasia, Block vertebrae, Tarsal synostosis, Bow... OMIM:272460
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Vertebral fusion, Elbow contracture, Hyperlordosis, Kyphosis, Achilles tendon contracture, Scoliosis OMIM:606612
Aarskog-Scott Syndrome
Finger syndactyly, Genu recurvatum, Camptodactyly of finger, Short neck, Small hand, Short foot, ... ORPHA:915
Leiomyoma Of Vulva And Esophagus
Esophageal obstruction OMIM:150700
Frontometaphyseal Dysplasia 1
Carpal synostosis, Limited elbow movement, Knee flexion contracture, Increased density of long bo... OMIM:305620
Infant Acute Respiratory Distress Syndrome
Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemia, Respira... ORPHA:70587
Combined Oxidative Phosphorylation Deficiency 30
Respiratory distress, Failure to thrive OMIM:616974
Pneumocystosis
Respiratory failure requiring assisted ventilation, Multiple pulmonary cysts, Nonproductive cough... ORPHA:723
Stt3B-Cdg
Respiratory distress, Intrauterine growth retardation, Failure to thrive ORPHA:370924
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Respiratory distress, Failure to thrive, Respiratory insufficiency due to muscle weakness OMIM:613561
Congenital Diaphragmatic Hernia
Respiratory distress, Pulmonary hypoplasia, Hypoxemia ORPHA:2140
Congenital Disorder Of Glycosylation, Type Ix
Respiratory distress, Intrauterine growth retardation, Failure to thrive OMIM:615597
Mayer-Rokitansky-Küster-Hauser Syndrome
Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Vertebral se... ORPHA:3109
Alkaptonuria
Arthropathy, Vertebral fusion, Low back pain, Kyphosis, Limited shoulder movement, Arthritis, Lim... OMIM:203500
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Chronic pulmonary obstruction, Cough, Pulmonary arterial hypertension, Pleu... ORPHA:2414
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Tachypnea, Large for gestational age ORPHA:45452
X-Linked Centronuclear Myopathy
Respiratory distress, Respiratory failure requiring assisted ventilation, Recurrent respiratory i... ORPHA:596
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Recurrent respiratory infections, Sinusitis, Bronchiectasis, Immotile cilia... OMIM:606763
Caudal Regression Syndrome
Joint stiffness, Missing ribs, Aplasia/Hypoplasia of the sacrum, Abnormal iliac wing morphology, ... ORPHA:3027
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Respiratory distress OMIM:617977
Congenital Laryngeal Web
Respiratory distress, Stridor ORPHA:2374
Familial Congenital Mirror Movements
Fused cervical vertebrae ORPHA:238722
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Respiratory distress, Intrauterine growth retardation, Failure to thrive ORPHA:261304
Surfactant Metabolism Dysfunction, Pulmonary, 5
Dyspnea, Intraalveolar phospholipid accumulation, Respiratory insufficiency, Interlobular septal ... OMIM:614370
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress, Respiratory failure requiring assisted ventilation, Ventilator dependence w... ORPHA:254864
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Thoracolumbar scoliosis, Short neck, Flexion contracture, Cervical C2/C3 vertebral fusion, Acetab... OMIM:616549
Malaria
Respiratory distress ORPHA:673
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Vertebral fusion, Hyperlordosis, Kyphosis, Achilles tendon contracture, Scoliosis OMIM:607155
Wildervanck Syndrome
Fused cervical vertebrae, Short neck ORPHA:3456
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Respiratory distress, Paradoxical respiration, Recurrent acute respiratory tract infection OMIM:620011
Nipah Virus Disease
Respiratory distress, Recurrent pharyngitis, Cough ORPHA:99825
Ehlers-Danlos Syndrome, Classic-Like, 2
Osteopenia, Hallux valgus, Thoracic scoliosis, Short neck, Osteoarthritis, Generalized joint laxi... OMIM:618000
Slc35A1-Cdg
Respiratory distress, Pneumonia, Pulmonary hemorrhage, Hypoxemia ORPHA:238459
Robinow Syndrome, Autosomal Recessive 1
Short neck, Hemivertebrae, Short palm, Thoracic hemivertebrae, Duplication of the distal phalanx ... OMIM:268310
Pulmonary Alveolar Proteinosis, Acquired
Recurrent respiratory infections, Lung abscess, Pneumonia, Dyspnea, Intraalveolar phospholipid ac... OMIM:610910
Larsen Syndrome
Joint laxity, Vertebral fusion, Short metacarpal, Cervical kyphosis, Spatulate thumbs, Tapered hu... OMIM:150250
Chitayat Syndrome
Respiratory distress, Recurrent respiratory infections, Abnormal pulmonary interstitial morpholog... OMIM:617180
Avian Influenza
Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tachypnea, Pneum... ORPHA:454836
Congenital Tracheomalacia
Apnea, Decreased peak expiratory flow, Cough, Emphysema, Neonatal respiratory distress, Intercost... ORPHA:95430
Multiple Pterygium Syndrome, Escobar Variant
Multiple joint contractures, Short neck, Flexion contracture, Knee flexion contracture, Intercrur... OMIM:265000
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress OMIM:614741
Thyroid Lymphoma
Respiratory distress, Dyspnea, Stridor, Upper airway obstruction ORPHA:97285
Auriculocondylar Syndrome 2A
Respiratory distress, Apnea OMIM:614669
Wolman Disease
Hepatomegaly, Cachexia, Splenomegaly, Esophageal varix, Steatorrhea ORPHA:75233
Basal Cell Nevus Syndrome 1
Vertebral fusion, Short distal phalanx of the thumb, Down-sloping shoulders, Kyphoscoliosis, Irre... OMIM:109400
Developmental And Epileptic Encephalopathy 68
Respiratory distress, Failure to thrive OMIM:618201
Otopalatodigital Syndrome Type 2
Increased bone mineral density, Bowing of the long bones, Tarsal synostosis, Camptodactyly of fin... ORPHA:90652
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Malabsorption, Splenomegaly, E... ORPHA:131
Atelosteogenesis, Type I
Short neck, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia, Short metaca... OMIM:108720
Choanal Atresia
Respiratory distress, Recurrent respiratory infections, Upper airway obstruction, Tracheomalacia,... ORPHA:137914
Myopathy And Diabetes Mellitus
Respiratory distress ORPHA:2596
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress ORPHA:240085
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteopenia, Osteomyelitis, Osteolysis, Fused cervical vertebrae, Joint swelling, Flaring of rib c... OMIM:612852
Lamb-Shaffer Syndrome
Fused cervical vertebrae, Hip dysplasia, Thoracic kyphosis, Scoliosis ORPHA:530983
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Dyspnea, Respiratory failure, Recurrent respiratory infections ORPHA:2759
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Respiratory distress, Dyspnea, Cough ORPHA:86812
Lethal Recessive Chondrodysplasia
Respiratory distress ORPHA:1423
Congenital Disorder Of Glycosylation, Type Iu
Respiratory distress, Neonatal respiratory distress OMIM:615042
Kbg Syndrome
Vertebral fusion, Syndactyly, Short neck, Delayed skeletal maturation, Rib fusion, Vertebral arch... OMIM:148050
Myotubular Myopathy With Abnormal Genital Development
Neonatal death, Atelectasis, Respiratory distress OMIM:300219
Acro-Renal-Ocular Syndrome
Vertebral fusion, Finger syndactyly, Hypoplasia of the ulna, Broad hallux phalanx, Toe syndactyly... ORPHA:959
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress, Respiratory insufficiency due to muscle weakness ORPHA:1143
Frontometaphyseal Dysplasia
Limited elbow movement, Metaphyseal widening, Short metatarsal, Spina bifida occulta, Short phala... ORPHA:1826
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Failure to thrive ORPHA:79312
Folinic Acid-Responsive Seizures
Respiratory distress, Apnea ORPHA:79097
Mosaic Trisomy 20
Vertebral fusion, Down-sloping shoulders, Kyphosis, Spinal canal stenosis, Fused cervical vertebr... ORPHA:1724
Holocarboxylase Synthetase Deficiency
Respiratory distress, Tachypnea, Weight loss ORPHA:79242
Brown-Vialetto-Van Laere Syndrome 1
Respiratory distress, Respiratory failure requiring assisted ventilation, Recurrent respiratory i... OMIM:211530
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Esophageal stenosis, Congenital pyloric atresia OMIM:619817
Tularemia
Respiratory distress, Pleural effusion, Pneumonia, Cough ORPHA:3392
Cholesteryl Ester Storage Disease
Splenomegaly, Hepatomegaly, Esophageal varix ORPHA:75234
Koolen-De Vries Syndrome
Vertebral fusion, Arachnodactyly, Kyphosis, Hip dislocation, Joint hyperflexibility, Vertebral se... ORPHA:96169
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress ORPHA:240103
Congenital Disorder Of Glycosylation, Type Ie
Respiratory distress, Failure to thrive OMIM:608799
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Respiratory failure, Tachypnea, Respiratory insufficiency OMIM:614299
Lissencephaly Syndrome, Norman-Roberts Type
Respiratory distress, Intrauterine growth retardation ORPHA:89844
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Respiratory distress, Upper airway obstruction ORPHA:100057
Koolen-De Vries Syndrome
Vertebral fusion, Prominent metopic ridge, Sacral dimple, Kyphosis, Hip dislocation, Hip dysplasi... OMIM:610443
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory insufficien... ORPHA:308552
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Bifid sternum OMIM:140850
Lateral Meningocele Syndrome
Vertebral fusion, Short neck, Kyphosis, Sclerosis of skull base, Scoliosis, Wormian bones, Biconc... OMIM:130720
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Respiratory distress, Failure to thrive ORPHA:927
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Cervical C2/C3 vertebral fusion, Joint hypermobility, Camptodactyly OMIM:617333
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Hyperextensibility of the finger joints, Vertebral fusion, Sacral dimple, Overlapping toe, Cranio... OMIM:213980
Hypoglossia With Situs Inversus
Respiratory distress, Upper airway obstruction OMIM:612776
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress, Stridor, Failure to thrive OMIM:615595
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Respiratory distress, Umbilical hernia, Large for gestational age ORPHA:226313
Carnitine Deficiency, Systemic Primary
Respiratory distress, Failure to thrive OMIM:212140
Gaucher Disease, Perinatal Lethal
Respiratory distress, Apnea, Pulmonary hypoplasia, Decreased body weight, Neonatal death, Intraut... OMIM:608013
Acquired Methemoglobinemia
Respiratory distress, Dyspnea, Hypoxemia ORPHA:464453
Microphthalmia, Syndromic 3
Vertebral fusion, Missing ribs, Rib fusion, Hemivertebrae, Supernumerary ribs, Butterfly vertebra... OMIM:206900
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Small for gestational age, Pneumonia, Episodic tachypnea, Overweight, Tachy... ORPHA:26793
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Respiratory distress, Failure to thrive ORPHA:544503
Primary Dystonia, Dyt4 Type
Respiratory distress, Eunuchoid habitus ORPHA:98805
Retinitis Pigmentosa 89
Esophageal varix, Hepatosplenomegaly OMIM:618955
Myhre Syndrome
Vertebral fusion, Overlapping toe, Short neck, Joint stiffness, Hypoplastic iliac wing, Short toe... OMIM:139210
Mercury Poisoning
Respiratory distress, Dyspnea, Respiratory failure, Interstitial pneumonitis ORPHA:330021
Mitochondrial Complex I Deficiency, Nuclear Type 37
Respiratory distress, Pulmonary arterial hypertension, Failure to thrive OMIM:619272
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory distress, Respiratory insufficiency ORPHA:1145
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Respiratory failure, Pulmonary hypoplasia OMIM:617895
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Respiratory distress, Recurrent respiratory infections, Failure to thrive ORPHA:329178
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Dyspnea, Respiratory failure, Failure to thrive ORPHA:2707
Non-Syndromic Posterior Hypospadias
Esophageal atresia, Small for gestational age, Cleft palate, Anal atresia ORPHA:95706
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Aspiration pneumonia ORPHA:314655
Agnathia-Otocephaly Complex
Respiratory distress, Pulmonary hypoplasia, Tracheomalacia OMIM:202650
Oromandibular Dystonia
Respiratory distress, Weight loss ORPHA:93958
Odontochondrodysplasia 1
Respiratory distress, Recurrent respiratory infections, Pulmonary hypoplasia OMIM:184260
Brain-Lung-Thyroid Syndrome
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Asthma, Re... ORPHA:209905
Nasolacrimal Duct Cyst
Intercostal retractions, Episodic respiratory distress, Stridor, Paroxysmal dyspnea, Abnormal bre... ORPHA:141083
Restrictive Dermopathy 2
Respiratory distress, Intrauterine growth retardation OMIM:619793
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Respiratory distress ORPHA:289916
Glycogen Storage Disease Iv
Failure to thrive, Esophageal varix, Hepatosplenomegaly OMIM:232500
Tetrasomy 5P
Respiratory distress, Recurrent respiratory infections, Pulmonary hypoplasia, Pulmonary arterial ... ORPHA:3309
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Esophageal stenosis, Hypoperistalsis, Esophageal neoplasm, Weight loss, Abnormal esophagus morpho... ORPHA:1018
Sifrim-Hitz-Weiss Syndrome
Tapered finger, Flat acetabular roof, Fused cervical vertebrae, Short clavicles, Short femoral ne... OMIM:617159
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Respiratory distress, Inspiratory stridor, Irregular respiration OMIM:604377
Portal Hypertension, Noncirrhotic, 2
Splenomegaly, Hepatomegaly, Esophageal varix, Hepatocellular carcinoma OMIM:619463
Congenital Disorder Of Glycosylation, Type Ig
Respiratory distress, Small for gestational age, Recurrent pneumonia, Recurrent upper respiratory... OMIM:607143
Synaptic Congenital Myasthenic Syndromes
Respiratory distress, Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency, ... ORPHA:98915
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Apneic episodes... ORPHA:348
Faciodigitogenital Syndrome, Autosomal Recessive
Vertebral fusion, Syndactyly, Down-sloping shoulders, Metatarsus adductus, Hyperextensible hand j... OMIM:227330
Fanconi Anemia, Complementation Group I
Absent thumb, Short neck, Short thumb, Hypoplasia of the radius, Fused cervical vertebrae, Short ... OMIM:609053
Scimitar Syndrome
Respiratory distress, Recurrent respiratory infections, Abnormal lung morphology, Pneumothorax, P... ORPHA:185
Aicardi Syndrome
Block vertebrae, Missing ribs, Rib fusion, Small hand, Hip dysplasia, Supernumerary ribs, Scolios... ORPHA:50
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Respiratory insufficiency due to muscle weakness, Respiratory failure, Fail... OMIM:220110
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Central apnea, Respiratory failure, Neonatal death, Pulmonary arterial hype... OMIM:616482
Diaphanospondylodysostosis
Respiratory distress, Respiratory insufficiency, Pulmonary hypoplasia, Tracheomalacia, Intrauteri... OMIM:608022
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Respiratory distress, Stillbirth, Pulmonary hypoplasia OMIM:151210
Duane-Radial Ray Syndrome
Syndactyly, Hypoplasia of the ulna, Short humerus, Sandal gap, Absent thumb, Absent radius, Short... OMIM:607323
Odontochondrodysplasia
Respiratory distress ORPHA:166272
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory distress, Respiratory failure OMIM:620166
Thrombocytopenia-Absent Radius Syndrome
Femoral bowing, Abnormal shoulder morphology, Phocomelia, Clinodactyly of the 5th finger, Short p... OMIM:274000
Multiple Acyl-Coa Dehydrogenase Deficiency
Neonatal death, Pulmonary hypoplasia, Respiratory distress OMIM:231680
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Respiratory distress, Failure to thrive, Respiratory insufficiency ORPHA:367
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Thoracic scoliosis, Short neck, Generalized joint laxity, Thoracic kyphosis, Hypermobility of int... ORPHA:508498
Inhalational Anthrax
Respiratory distress, Dyspnea ORPHA:247257
Shashi-Pena Syndrome
Short metacarpal, Accelerated skeletal maturation, Kyphosis, Osteoporosis, Scoliosis, Cervical C2... OMIM:617190
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Respiratory distress, Failure to thrive OMIM:251000
Duane Retraction Syndrome
Aplasia/Hypoplasia of the thumb, Short neck, Absent radius, Preaxial hand polydactyly, Hypoplasia... ORPHA:233
Microlissencephaly-Micromelia Syndrome
Respiratory distress, Failure to thrive ORPHA:50810
Esophageal Atresia
Respiratory distress, Recurrent respiratory infections, Small for gestational age, Failure to thr... ORPHA:1199
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Respiratory distress, Recurrent respiratory infections OMIM:619383
Episodic Ataxia Type 1
Respiratory distress ORPHA:37612
Apert Syndrome
Syndactyly, Finger syndactyly, Broad distal hallux, Sagittal craniosynostosis, Limited elbow move... OMIM:101200
Lymphatic Malformation 7
Respiratory distress, Pleural effusion, Chylothorax, Pulmonary edema OMIM:617300
Aicardi Syndrome
Block vertebrae, Proximal placement of thumb, Missing ribs, Hemivertebrae, Rib fusion, Supernumer... OMIM:304050
Farber Disease
Respiratory distress, Nodular pattern on pulmonary HRCT, Atelectasis, Recurrent upper respiratory... ORPHA:333
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Respiratory distress, Neonatal respiratory distress, Apnea, Hypopnea, Recurrent lower respiratory... OMIM:618426
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Esophageal stenosis, Anal fissure, Esophageal stricture, Dysphagia, Gastroesophageal reflux, Decr... ORPHA:89842
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Respiratory distress OMIM:617102
Radio-Renal Syndrome
Respiratory distress, Dyspnea, Respiratory failure, Chylothorax, Pleural effusion ORPHA:3015
Isolated Atp Synthase Deficiency
Respiratory distress ORPHA:254913
Simpson-Golabi-Behmel Syndrome
Vertebral fusion, Finger syndactyly, Congenital hip dislocation, Toe syndactyly, Camptodactyly of... ORPHA:373
Infantile Krabbe Disease
Respiratory distress, Respiratory failure, Failure to thrive, Cachexia ORPHA:206436
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Spontaneous esophageal perforation, Esophageal stricture, Abnormal esophagus morphology, Dysphagia OMIM:226600
Tetanus
Respiratory distress, Tachypnea ORPHA:3299
Moebius Syndrome
Respiratory distress OMIM:157900
Complete Atrioventricular Septal Defect
Intercostal retractions, Crackles, Wheezing, Tachypnea, Recurrent pneumonia, Elevated pulmonary a... ORPHA:1329
Nocardiosis
Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Pneumothorax, We... ORPHA:31204
Noonan Syndrome 7
Impaired oropharyngeal swallow response, Abnormal esophagus morphology, Dysphagia, Large for gest... OMIM:613706
Myotonic Dystrophy 1
Respiratory distress OMIM:160900
Intellectual Developmental Disorder, Autosomal Dominant 52
Cervical C2/C3 vertebral fusion, Lumbar hyperlordosis, Lumbar scoliosis OMIM:617796
Wolf-Hirschhorn Syndrome
Rib segmentation abnormalities, Vertebral fusion, Sacral dimple, Pseudoepiphyses of the metacarpa... OMIM:194190
Triosephosphate Isomerase Deficiency
Respiratory distress, Respiratory insufficiency due to muscle weakness, Respiratory insufficiency... OMIM:615512
Dyskeratosis Congenita, Autosomal Recessive 5
Esophageal stenosis, Colitis OMIM:615190
Congenital Myasthenic Syndrome
Recurrent respiratory infections, Sudden episodic apnea, Intermittent episodes of respiratory ins... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Recurrent respiratory infections, Sudden episodic apnea, Intermittent episodes of respiratory ins... ORPHA:98914
Craniofaciofrontodigital Syndrome
Respiratory distress, Dyspnea, Pulmonary arterial hypertension, Large for gestational age ORPHA:363705
Neurodegeneration And Seizures Due To Copper Transport Defect
Respiratory distress, Pneumothorax, Pulmonary hypoplasia OMIM:620306
Pachyonychia Congenita
Respiratory distress, Failure to thrive ORPHA:2309
Toxic Epidermal Necrolysis
Respiratory distress, Recurrent respiratory infections, Abnormal pleura morphology, Weight loss, ... ORPHA:537
Kniest Dysplasia
Respiratory distress, Umbilical hernia, Tracheomalacia OMIM:156550
Congenital Tracheal Stenosis
Respiratory distress, Neonatal asphyxia, Wheezing, Dyspnea, Abnormal lung morphology, Upper airwa... ORPHA:141127
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Orthopnea, Respiratory insufficiency due to muscle weakness, Respiratory tr... ORPHA:365
Oculopharyngodistal Myopathy 1
Respiratory distress, Hypercapnia, Reduced forced vital capacity, Respiratory insufficiency due t... OMIM:164310
Cardiomyopathy, Familial Hypertrophic, 4
Respiratory distress, Dyspnea, Pulmonary edema OMIM:115197
Mucopolysaccharidosis-Plus Syndrome
Respiratory distress, Recurrent bronchopulmonary infections, Recurrent pneumonia, Recurrent respi... OMIM:617303
Methylmalonic Aciduria, Cblb Type
Respiratory distress, Failure to thrive OMIM:251110
3-Methylglutaconic Aciduria, Type Viib
Respiratory distress, Intrauterine growth retardation, Recurrent pneumonia OMIM:616271
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Gastrointestinal hemorrhage, Esophageal varix OMIM:617341
Q Fever
Respiratory distress, Pneumonia, Abnormal pulmonary interstitial morphology, Weight loss, Cough, ... ORPHA:781
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Fused cervical vertebrae, Spina bifida occulta, Butterfly vertebrae OMIM:619227
Mogs-Cdg
Respiratory distress, Hypoventilation, Apnea, Pulmonary edema ORPHA:79330
Sepsis In Premature Infants
Small for gestational age, Abnormal mucociliary clearance, Dyspnea, Nasal flaring, Abnormal respi... ORPHA:90051
Shwachman-Diamond Syndrome 1
Respiratory distress, Neonatal respiratory distress, Failure to thrive, Small for gestational age OMIM:260400
Adams-Oliver Syndrome 6
Splenomegaly, Esophageal varix OMIM:616589
Plummer-Vinson Syndrome
Glossitis, Tongue atrophy, Esophageal web, Dysphagia ORPHA:54028
Congenital Disorder Of Glycosylation, Type Iil
Hepatomegaly, Splenomegaly, Esophageal varix, Inflammation of the large intestine, Failure to thrive OMIM:614576
Bronchogenic Cyst
Abnormal esophagus morphology, Dysphagia, Abnormal stomach morphology ORPHA:2357
Cardiospondylocarpofacial Syndrome
Joint laxity, Tarsal synostosis, Delayed skeletal maturation, Rib fusion, Cone-shaped epiphysis, ... OMIM:157800
Visceral Myopathy, Familial, With External Ophthalmoplegia
Spontaneous esophageal perforation OMIM:277320
Dyskeratosis Congenita, Autosomal Dominant 6
Esophageal stenosis, Oral leukoplakia OMIM:616553
Spinal muscular atrophy, type I, with congenital bone fractures
Respiratory distress OMIM:271225
Congenital Enterovirus Infection
Respiratory distress, Pleural effusion ORPHA:292
Arnold-Chiari Malformation Type I
Stiff neck, Fused cervical vertebrae, Scoliosis, Cervical C2/C3 vertebral fusion, Anteriorly plac... ORPHA:268882
Robinow Syndrome
Fused thoracic vertebrae, Syndactyly, Brachydactyly, Kyphoscoliosis, Bifid distal phalanx of the ... ORPHA:97360
Chromosome 6Q24-Q25 Deletion Syndrome
Respiratory distress, Intrauterine growth retardation OMIM:612863
Bacterial Toxic-Shock Syndrome
Respiratory distress, Sinusitis, Pneumonia, Respiratory tract infection, Tachypnea ORPHA:36234
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Respiratory distress OMIM:606164
Cryptococcosis
Respiratory distress, Pneumonia, Nodular pattern on pulmonary HRCT, Dyspnea, Cough, Pleural effusion ORPHA:1546
Frontometaphyseal Dysplasia 2
Hip contracture, Short metacarpal, Congenital hip dislocation, Elbow contracture, Short metatarsa... OMIM:617137
Apert Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Cervical C5/C6 vertebrae fusi... ORPHA:87
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Respiratory distress, Recurrent respiratory infections, Failure to thrive in infancy, Pneumonia, ... ORPHA:37042
Cholesteryl Ester Storage Disease
Hepatomegaly, Splenomegaly, Esophageal varix, Hepatosplenomegaly, Steatorrhea, Failure to thrive OMIM:278000
Cocaine Intoxication
Respiratory distress, Pulmonary edema, Diffuse alveolar hemorrhage, Wheezing, Tachypnea, Pneumoth... ORPHA:90068
Biotinidase Deficiency
Respiratory distress, Myelopathy, Apnea, Hyperventilation ORPHA:79241
Methylmalonic Aciduria, Cbla Type
Respiratory distress, Failure to thrive OMIM:251100
Japanese Encephalitis
Respiratory distress, Irregular respiration, Respiratory paralysis, Abnormal pattern of respirati... ORPHA:79139
Achondroplasia
Respiratory distress, Pulmonary hypoplasia, Upper airway obstruction OMIM:100800
Lujo Hemorrhagic Fever
Respiratory distress, Crackles, Nonproductive cough, Atelectasis, Rhinitis ORPHA:319213
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Respiratory distress, Pulmonary arterial hypertension ORPHA:2519
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Respiratory distress, Neonatal respiratory distress, Tracheomalacia OMIM:217980
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Pneumonia, Epistaxis, Dyspnea, Respiratory failure, Cough, Pleural effusion... ORPHA:340
Spondyloepiphyseal Dysplasia Congenita
Respiratory distress, Cervical myelopathy, Restrictive ventilatory defect OMIM:183900
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Esophageal ulceration, Gastric ulcer, Duodenal ulcer OMIM:618372
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Respiratory distress ORPHA:990
Ramos-Arroyo Syndrome
Respiratory distress, Severe failure to thrive, Decreased body weight ORPHA:1051
Mgat2-Cdg
Respiratory distress, Recurrent upper and lower respiratory tract infections, Failure to thrive ORPHA:79329
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory distress, Repeated pneumothoraces, Atelectasis, Respiratory insufficiency, Restrictiv... ORPHA:536467
Arterial Tortuosity Syndrome
Respiratory distress, Dyspnea, Pulmonary artery stenosis, Cardiorespiratory arrest, Respiratory f... ORPHA:3342
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Respiratory distress, Respiratory failure, Chylothorax OMIM:620278
Idiopathic Hypereosinophilic Syndrome
Respiratory distress, Pulmonary embolism, Dyspnea, Asthma, Pulmonary fibrosis, Cough, Pleural eff... ORPHA:3260
Meier-Gorlin Syndrome 1
Respiratory distress, Small for gestational age, Intrauterine growth retardation, Emphysema, Fail... OMIM:224690
Rodrigues Blindness
Nasal flaring OMIM:268320
Hepatoportal Sclerosis
Gastrointestinal hemorrhage, Splenomegaly, Esophageal varix, Gastric varix, Hepatocellular carcinoma ORPHA:64743
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Respiratory distress, Umbilical hernia ORPHA:1555
Osteogenesis Imperfecta, Type X
Respiratory distress, Recurrent pneumonia, Chronic lung disease OMIM:613848
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Respiratory distress, Intrauterine growth retardation, Failure to thrive OMIM:617156
Hereditary Angioedema Type 1
Respiratory distress, Dyspnea, Inspiratory stridor ORPHA:100050
Thakker-Donnai Syndrome
Cervical C2/C3 vertebral fusion, Hemivertebrae, Short neck ORPHA:1780
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Respiratory distress, Recurrent respiratory infections, Failure to thrive, Apnea ORPHA:17
Alternating Hemiplegia Of Childhood
Respiratory distress, Aspiration, Failure to thrive, Apnea ORPHA:2131
Prader-Willi Syndrome Due To Translocation
Respiratory distress, Intrauterine growth retardation, Recurrent respiratory infections, Obesity ORPHA:177907
Systemic Sclerosis
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Barrett esophagus... ORPHA:90291
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Respiratory distress, Recurrent respiratory infections OMIM:300968
Congenital Myopathy 22B, Severe Fetal
Respiratory distress, Pleural effusion, Pulmonary hypoplasia OMIM:620369
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Respiratory distress, Recurrent respiratory infections, Stridor, Pulmonary arterial hypertension,... ORPHA:505248
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Respiratory distress, Pulmonary embolism, Pulmonary arterial hypertension, Intrauterine growth re... ORPHA:79282
Mandibulofacial Dysostosis, Guion-Almeida Type
Respiratory distress OMIM:610536
Ear-Patella-Short Stature Syndrome
Respiratory distress, Dyspnea, Respiratory failure, Intrauterine growth retardation, Failure to t... ORPHA:2554
Chromosome 16P13.3 Duplication Syndrome
Sacral dimple, Sandal gap, Rocker bottom foot, Proximal placement of thumb, Short neck, Tapered f... OMIM:613458
Campomelic Dysplasia
Respiratory distress, Neonatal respiratory distress, Apnea, Spina bifida, Recurrent upper respira... OMIM:114290
Neuromuscular Oculoauditory Syndrome
Respiratory distress, Aspiration OMIM:618733
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Respiratory distress ORPHA:438216
Pfeiffer Syndrome Type 2
Respiratory distress, Tracheomalacia ORPHA:93259
Adnp Syndrome
Respiratory distress, Recurrent upper respiratory tract infections, Aspiration, Truncal obesity, ... ORPHA:404448
Pfeiffer Syndrome Type 3
Respiratory distress, Tracheomalacia ORPHA:93260
Aspergillosis
Abnormal esophagus morphology ORPHA:1163
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, Pleural effusion, Apnea, Pulmonary edema OMIM:261740
Mitochondrial Dna-Associated Leigh Syndrome
Apnea, Dyspnea, Episodic respiratory distress, Failure to thrive, Hyperventilation ORPHA:255210
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Splenomegaly, Esophageal varix, Hepatocellular adenoma, Increased body weight, Fail... ORPHA:264580
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Pneumonia, Dyspnea, Pneumothorax, Stridor, Respiratory failure, Failure to ... ORPHA:79404
Auriculocondylar Syndrome
Respiratory distress ORPHA:137888
Ethylene Glycol Poisoning
Pulmonary edema, Tachypnea, Episodic respiratory distress, Abnormal pattern of respiration ORPHA:31826
Chops Syndrome
Tracheomalacia, Cervical C2/C3 vertebral fusion, Brachydactyly OMIM:616368
Hyperparathyroidism, Transient Neonatal
Respiratory distress, Umbilical hernia OMIM:618188
Congenital Disorder Of Deglycosylation 1
Respiratory distress, Recurrent respiratory infections, Decreased body weight OMIM:615273
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Failure to thrive, Esophageal varix ORPHA:974
Adams-Oliver Syndrome 5
Splenomegaly, Esophageal varix, Right ventricular hypertrophy OMIM:616028
Thrombotic Thrombocytopenic Purpura, Hereditary
Respiratory distress OMIM:274150
Beare-Stevenson Cutis Gyrata Syndrome
Respiratory distress OMIM:123790
Coach Syndrome 1
Splenomegaly, Hepatomegaly, Esophageal varix OMIM:216360
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Respiratory distress, Failure to thrive OMIM:256810
Colchicine Poisoning
Respiratory distress, Cardiorespiratory arrest ORPHA:31824
Diamond-Blackfan Anemia 10
Respiratory distress OMIM:613309
Congenital Alveolar Capillary Dysplasia
Respiratory distress, Pulmonary arterial hypertension ORPHA:210122
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Respiratory distress, Small for gestational age, Pulmonary artery stenosis, Umbilical hernia, Fai... ORPHA:2255
Heterotaxy, Visceral, 1, X-Linked
Respiratory distress, Bilateral trilobed lung, Myelomeningocele, Total anomalous pulmonary venous... OMIM:306955
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Esophageal varix OMIM:619662
Coccidioidomycosis
Respiratory distress, Pneumonia, Pleural empyema, Cough, Exudative pleural effusion ORPHA:228123
Congenital Total Pulmonary Venous Return Anomaly
Respiratory distress, Respiratory failure requiring assisted ventilation, Recurrent respiratory i... ORPHA:99125
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Arachnodactyly, Overlapping toe, Contracture of the distal interphalangeal joint of the fingers, ... ORPHA:83617
Craniorachischisis
Bifid sternum ORPHA:63260
Rubinstein-Taybi Syndrome 1
Respiratory distress, Failure to thrive, Small for gestational age, Spina bifida, Respiratory tra... OMIM:180849
Caroli Disease
Hepatomegaly, Cholangiocarcinoma, Splenomegaly, Esophageal varix, Weight loss ORPHA:53035
Arboleda-Tham Syndrome
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Intrauteri... OMIM:616268
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Hematemesis, Splenomegaly, Esophageal varix, Enlarged kidney OMIM:263200
Schinzel-Giedion Syndrome
Respiratory distress, Failure to thrive in infancy, Recurrent pneumonia, Neural tube defect, Pulm... ORPHA:798
Osteoglophonic Dysplasia
Respiratory distress, Failure to thrive OMIM:166250
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Abnormal p... OMIM:614748
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Wormian bones, Small hand, Fibular hypoplasia, Hypoplasia of proximal radius, Tracheomalacia, Cer... ORPHA:444077
Listeriosis
Respiratory distress, Respiratory failure, Pneumonia ORPHA:533
Cirrhosis, Familial
Esophageal varix OMIM:215600
Aortic Arch Interruption
Respiratory distress, Tachypnea, Aortopulmonary window, Exertional dyspnea ORPHA:2299
Microphthalmia With Linear Skin Defects Syndrome
Respiratory distress, Dyspnea, Respiratory failure, Failure to thrive ORPHA:2556
Kasabach-Merritt Syndrome
Respiratory distress, Hypopnea ORPHA:2330
8Q24.3 Microdeletion Syndrome
Branchial cyst, Respiratory distress, Small for gestational age, Abnormal lung lobation, Intraute... ORPHA:508488
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Asthma, Nasal flaring, Obesity ORPHA:466943
Coffin-Lowry Syndrome
Hyperextensibility of the finger joints, Short metacarpal, Bifid sternum, Delayed closure of the ... OMIM:303600
Tuberous Sclerosis Complex
Respiratory distress, Respiratory failure, Respiratory tract infection, Pulmonary lymphangiomyoma... ORPHA:805
Isolated Arrhinia
Respiratory distress ORPHA:1134
Stüve-Wiedemann Syndrome
Respiratory distress, Intrauterine growth retardation, Asthma, Apnea ORPHA:3206
Lysosomal Acid Lipase Deficiency
Cachexia, Esophageal varix, Hepatosplenomegaly, Weight loss, Steatorrhea, Failure to thrive ORPHA:275761
Benign Schwannoma
Intestinal polyposis, Abnormal parotid gland morphology, Abnormal esophagus morphology ORPHA:252164
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Respiratory distress, Rhinitis OMIM:305100
Dyskeratosis Congenita
Hepatomegaly, Esophageal stenosis, Malabsorption, Splenomegaly, Anorectal anomaly, Tracheoesophag... ORPHA:1775
Cleidocranial Dysplasia 1
Respiratory distress, Neonatal respiratory distress OMIM:119600
Hardikar Syndrome
Hepatomegaly, Cleft soft palate, Intestinal malrotation, Celiac disease, Hematemesis, Splenomegal... OMIM:301068
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Achalasia, Esophageal stenosis, Dysphagia OMIM:615510
Gitelman Syndrome
Respiratory distress, Failure to thrive ORPHA:358
Eisenmenger Syndrome
Respiratory distress, Increased pulmonary vascular resistance, Wheezing, Aortopulmonary window, H... ORPHA:97214
Chronic Graft Versus Host Disease
Esophageal stricture, Xerostomia, Weight loss, Abnormal esophagus morphology, Gastroesophageal re... ORPHA:99921
Rajab Interstitial Lung Disease With Brain Calcifications 1
Small for gestational age, Intestinal malrotation, Esophageal varix, High palate, Gastroesophagea... OMIM:613658
Ulbright-Hodes Syndrome
Respiratory distress, Pneumothorax, Respiratory failure, Pulmonary hypoplasia, Severe intrauterin... ORPHA:3404
Kindler Syndrome
Anal stenosis, Esophageal stenosis, Oral leukoplakia, Dysphagia OMIM:173650
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia, Rhinitis, Co... ORPHA:95455
Leptospirosis
Respiratory distress, Pleural effusion, Pulmonary hemorrhage, Cough ORPHA:509
Classic Homocystinuria
Gastrointestinal hemorrhage, Hepatomegaly, Esophageal varix, High palate ORPHA:394
Hereditary Hemorrhagic Telangiectasia
Intestinal polyposis, Esophageal varix, Gastrointestinal hemorrhage ORPHA:774
Doors Syndrome
Respiratory distress, Spina bifida occulta, Aspiration pneumonia, Sirenomelia ORPHA:79500
Elsahy-Waters Syndrome
Cervical C2/C3 vertebral fusion, Cutaneous finger syndactyly, Shortening of all phalanges of fing... OMIM:211380
Wilson Disease
Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Esophageal varix, Dysphagia OMIM:277900
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Splenomegaly, Hepatomegaly, Esophageal varix ORPHA:309854
Autosomal Recessive Polycystic Kidney Disease
Gastrointestinal hemorrhage, Cholangiocarcinoma, Splenomegaly, Esophageal varix, Hepatosplenomega... ORPHA:731
Craniofacial Microsomia 1
Block vertebrae, Partial duplication of thumb phalanx, Hemivertebrae, Genu valgum, Cervical ribs,... OMIM:164210
Generalized Arterial Calcification Of Infancy
Abnormality of the knee, Osteomalacia, Stippled calcification of the shoulder, Abnormal calcifica... ORPHA:51608
Caroli Syndrome
Hepatomegaly, Cholangiocarcinoma, Hematemesis, Esophageal varix, Melena ORPHA:480520
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Esophageal diverticulum, Cleft palate, Hamartoma of tongue, Anal atresia OMIM:617925
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Splenomegaly, Hepatomegaly, Esophageal varix, Hepatosplenomegaly OMIM:615688
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Respiratory distress, Intrauterine growth retardation, Failure to thrive, Recurrent pneumonia ORPHA:99646
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Cachexia, Splenomegaly, Esophageal varix, Hepatosplenomegaly, Gastric ulcer ORPHA:2072
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Respiratory distress OMIM:617088
Senior-Boichis Syndrome
Esophageal varix, Hepatosplenomegaly ORPHA:84081
Plague
Respiratory distress, Acute infectious pneumonia ORPHA:707
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Respiratory distress, Recurrent upper and lower respiratory tract infections ORPHA:480880
Arima Syndrome
Hepatomegaly, Esophageal varix OMIM:243910
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Cleft soft palate, Esophageal varix, Hepatosplenomegaly, High palate, Dysphagia, Failure to thrive OMIM:619503
Alström Syndrome
Respiratory distress, Chronic pulmonary obstruction, Recurrent pneumonia, Recurrent upper respira... ORPHA:64
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hepatomegaly, Splenomegaly, Esophageal varix, Gastroesophageal reflux, Failure to thrive OMIM:619534
Pmm2-Cdg
Respiratory distress, Failure to thrive, Aspiration pneumonia ORPHA:79318

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 Sulf2

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 Sulf2.

No publications found that use IMPC mice or data for Sulf2.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Sulf2em1(IMPC)Ccpcz Exon Deletion Mice
Sulf2tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Sulf2tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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