Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
developmental pluripotency associated 4
Synonyms:
ECAT15-1,  2410091M23Rik

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 Dppa4 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 Dppa4 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Ciliary Dyskinesia, Primary, 29
Infertility, Ciliary dyskinesia, Bronchiectasis, Recurrent respiratory infections, Decreased nasa... OMIM:615872
Asbestos Intoxication
Wheezing, Lung adenocarcinoma, Pleural thickening, Exertional dyspnea, Restrictive ventilatory de... ORPHA:2302
Bronchopulmonary Dysplasia
Wheezing, Central apnea, Hyperoxemia, Tracheobronchomalacia, Abnormal respiratory system physiolo... ORPHA:70589
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Mucus Inspissation Of Respiratory Tract
Chronic pulmonary obstruction, Bronchiectasis, Chronic sinusitis, Recurrent respiratory infection... OMIM:253240
Ciliary Dyskinesia, Primary, 21
Neonatal respiratory distress, Ciliary dyskinesia, Bronchiectasis, Chronic sinusitis, Recurrent p... OMIM:615294
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Pectus carinatum, Abnormality of the elbow, Finger syndactyly, Abnormal rib morphology, Clinodact... ORPHA:3268
Ciliary Dyskinesia, Primary, 33
Ciliary dyskinesia, Recurrent bronchitis, Bronchiectasis, Chronic rhinitis, Cough, Recurrent lowe... OMIM:616726
Acute Interstitial Pneumonia
Reticulonodular pattern on pulmonary HRCT, Hypoxemia, Crackles, Bronchiectasis, Tachypnea, Interl... ORPHA:79126
Jeune Syndrome
Toe syndactyly, Aplasia/Hypoplasia of the lungs, Cone-shaped epiphysis, Respiratory insufficiency... ORPHA:474
Pulmonary Blastoma
Cough, Pulmonary infiltrates, Recurrent pneumonia, Dyspnea, Pleuropulmonary blastoma ORPHA:64741
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Bronchiectasis, Respiratory distress, Abnormal mucociliary clearance, Recurrent respiratory infec... OMIM:619466
Recurrent Respiratory Papillomatosis
Wheezing, Stridor, Respiratory insufficiency, Tachypnea, Upper airway obstruction, Respiratory di... ORPHA:60032
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Wheezing, Honeycomb lung, Hypoxemia, Chronic bronchitis, Chronic pulmonary obstruction, Bronchiec... ORPHA:79127
Infant Acute Respiratory Distress Syndrome
Hypoxemia, Pneumonia, Tachypnea, Abnormal thorax morphology, Respiratory tract infection, Pulmona... ORPHA:70587
Ciliary Dyskinesia, Primary, 20
Ciliary dyskinesia, Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance,... OMIM:615067
Meconium Aspiration Syndrome
Wheezing, Hypoxemia, Intrauterine growth retardation, Atelectasis, Transient pulmonary infiltrate... ORPHA:70588
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Wheezing, Hypoxemia, Neonatal respiratory distress, Crackles, Elevated bronchoalveolar lavage flu... OMIM:610978
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness
Chronic sinusitis, Atelectasis, Recurrent bronchitis OMIM:300455
Heart Defects-Limb Shortening Syndrome
Death in infancy, Abnormality of the metaphysis, Narrow chest, Abnormal rib morphology, Abnormali... ORPHA:1354
Respiratory Distress Syndrome In Premature Infants
Neonatal respiratory distress, Tachypnea, Respiratory distress, Pulmonary edema, Dyspnea, Atelect... OMIM:267450
Idiopathic Chronic Eosinophilic Pneumonia
Wheezing, Hypoxemia, Crackles, Abnormal pulmonary thoracic imaging finding, Hypersensitivity pneu... ORPHA:2902
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Horizontal ribs, Lateral clavicle hook, Respiratory insufficiency, Postaxial polydactyly, Narrow ... OMIM:615633
Spondylometaphyseal Dysplasia, Type A4
Broad ischia, Coxa valga, Pectus carinatum, Metaphyseal widening, Metaphyseal irregularity, Costo... OMIM:609052
Myotubular Myopathy With Abnormal Genital Development
Death in infancy, Thin ribs, Neonatal death, Joint hypermobility, Respiratory distress, Atelectasis OMIM:300219
Surfactant Metabolism Dysfunction, Pulmonary, 3
Death in infancy, Desquamative interstitial pneumonitis, Neonatal respiratory distress, Nonspecif... OMIM:610921
Primary Ciliary Dyskinesia
Wheezing, Productive cough, Pulmonary situs ambiguus, Neonatal respiratory distress, Bronchiectas... ORPHA:244
Tracheobronchopathia Osteochondroplastica
Wheezing, Productive cough, Stridor, Respiratory insufficiency, Pneumonia, Upper airway obstructi... ORPHA:3348
Thanatophoric Dysplasia, Type Ii
Small abnormally formed scapulae, Short greater sciatic notch, Respiratory insufficiency, Wide-cu... OMIM:187601
Idiopathic Pulmonary Fibrosis
Honeycomb lung, Crackles, Bronchiectasis, Ground-glass opacification, Cough, Exertional dyspnea, ... ORPHA:2032
Familial Nasal Acilia
Bronchiectasis, Chronic rhinitis, Chronic sinusitis, Respiratory distress, Recurrent upper respir... ORPHA:922
Kyphomelic Dysplasia
Anterior rib cupping, Lateral clavicle hook, Bowing of the long bones, Missing ribs, Abnormality ... ORPHA:1801
Metatropic Dysplasia
Long thorax, Aplasia/Hypoplasia of the lungs, Abnormality of the metaphysis, Abnormal cortical bo... ORPHA:2635
Spondylometaphyseal Dysplasia, Axial
Proximal femoral metaphyseal irregularity, Thoracic hypoplasia, Anterior rib cupping, Reduced spe... OMIM:602271
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Achilles tendon contracture, Bronchiolitis, Exertional dyspnea, Decreased cervical spine flexion ... ORPHA:254361
Endosteal Hyperostosis, Worth Type
Diaphyseal thickening, Generalized osteosclerosis, Abnormal cortical bone morphology, Clavicular ... ORPHA:2790
Idiopathic Bronchiectasis
Wheezing, Productive cough, Abnormal respiratory system physiology, Crackles, Bronchiectasis, Red... ORPHA:60033
Rowley-Rosenberg Syndrome
Pulmonary arterial hypertension, Recurrent pneumonia, Atelectasis OMIM:268500
Axial Spondylometaphyseal Dysplasia
Abnormal ilium morphology, Upper limb undergrowth, Neonatal respiratory distress, Short ribs, Cup... ORPHA:168549
Thoracic Dysostosis, Isolated
Bell-shaped thorax, Pectus excavatum, Recurrent respiratory infections, Short ribs OMIM:187750
Hypophosphatasia
Respiratory insufficiency, Bowing of the long bones, Craniosynostosis, Abnormality of the metaphy... ORPHA:436
Bronchogenic Cyst
Pneumonia, Bronchogenic cyst, Cough, Abnormal pleura morphology, Pulmonary cyst, Dyspnea, Abnorma... ORPHA:2357
Surfactant Metabolism Dysfunction, Pulmonary, 1
Death in infancy, Desquamative interstitial pneumonitis, Neonatal respiratory distress, Tachypnea... OMIM:265120
Spondyloepimetaphyseal Dysplasia, Irapa Type
Upper limb undergrowth, Abnormal joint morphology, Pectus carinatum, Abnormality of epiphysis mor... ORPHA:93351
Short-Rib Thoracic Dysplasia 12
Horizontal ribs, Intrauterine growth retardation, Pulmonary hypoplasia, Hypoplastic scapulae, Bow... OMIM:269860
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Bronchiolitis obliterans, Hypoxemia, Pneumonia, Bronchiectasis, Reduced forced expiratory volume ... ORPHA:1303
Diastrophic Dysplasia
Intrauterine growth retardation, Respiratory insufficiency, Short finger, Abnormality of epiphysi... ORPHA:628
Aspergillosis
Sinusitis, Pleuritis, Chronic pulmonary obstruction, Abnormality of long bone morphology, Hyperse... ORPHA:1163
Idiopathic Acute Eosinophilic Pneumonia
Respiratory insufficiency, Abnormal pattern of respiration, Cough, Pulmonary infiltrates, Abnorma... ORPHA:724
Craniodiaphyseal Dysplasia
Craniofacial hyperostosis, Abnormal rib morphology, Diaphyseal thickening ORPHA:1513
Histiocytosis, Familial Lipochrome
Polyarticular arthritis, Pulmonary infiltrates OMIM:235900
Schneckenbecken Dysplasia
Anterior rib cupping, Lateral clavicle hook, Hypoplastic scapulae, Metaphyseal irregularity, Shor... OMIM:269250
Spondylocostal Dysostosis 2, Autosomal Recessive
Restrictive ventilatory defect, Recurrent respiratory infections, Rib fusion OMIM:608681
Waardenburg Syndrome Type 3
Cutaneous finger syndactyly, Synostosis of carpal bones, Abnormality of finger, Camptodactyly of ... ORPHA:896
Farber Disease
Abnormality of the knee, Abnormality of the elbow, Short finger, Respiratory insufficiency, Abnor... ORPHA:333
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Male hypogonadism, Hypergonadotropic hypogonadism, Superior rib anomalies OMIM:307500
Grant Syndrome
Abnormality of the glenoid fossa, Bowing of the long bones, Joint dislocation, Wormian bones, Abn... ORPHA:2097
Sarcoidosis, Susceptibility To, 2
Hypoxemia, Bronchiectasis, Pneumothorax, Pulmonary arterial hypertension, Elevated bronchoalveola... OMIM:612387
Thanatophoric Dysplasia, Type I
Short greater sciatic notch, Small abnormally formed scapulae, Respiratory insufficiency, Wide-cu... OMIM:187600
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Abnormality of pelvic girdle bone morphology, Intrauterine growth retardation, Abnormal rib morph... ORPHA:1506
Achondrogenesis, Type Ia
Short clavicles, Hypoplastic scapulae, Abnormal hand bone ossification, Unossified vertebral bodi... OMIM:200600
Microcephalic Primordial Dwarfism, Toriello Type
Intrauterine growth retardation, Abnormality of epiphysis morphology, Abnormal rib morphology, Re... ORPHA:2643
Emphysema, Hereditary Pulmonary
Chronic pulmonary obstruction, Emphysema, Chronic bronchitis OMIM:130700
Mesomelic Dysplasia, Kantaputra Type
Tarsal synostosis, Abnormality of the humerus, Ulnar deviation of finger, Cubitus valgus, Synosto... ORPHA:1836
Acrocapitofemoral Dysplasia
Short middle phalanx of finger, Genu varum, Dysplasia of the femoral head, Cone-shaped epiphysis ... OMIM:607778
Surfactant Metabolism Dysfunction, Pulmonary, 2
Desquamative interstitial pneumonitis, Nonspecific interstitial pneumonia, Spontaneous pneumothor... OMIM:610913
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Hallux valgus, Dysplasia of the femoral head, Restrictive ventilatory defect, Radioulnar synostos... ORPHA:536467
Autosomal Dominant Spondylocostal Dysostosis
Intrauterine growth retardation, Posterior rib fusion, Short thorax, Missing ribs, Abnormal rib m... ORPHA:1797
Cutis Laxa-Marfanoid Syndrome
Arachnodactyly, Hip dislocation, Flexion contracture, Limitation of joint mobility, Emphysema ORPHA:171719
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Thoracic hypoplasia, Horizontal ribs, Lateral clavicle hook, Postaxial polydactyly, Short ribs, H... OMIM:617895
Achondrogenesis Type 1B
Aplasia/Hypoplasia of the lungs, Short thorax, Short foot, Narrow chest, Abnormal rib morphology,... ORPHA:93298
Achondrogenesis, Type Ii
Horizontal ribs, Broad long bones, Hypoplastic iliac wing, Short ribs, Stillbirth, Absent vertebr... OMIM:200610
Lethal Congenital Contracture Syndrome Type 1
Pulmonary hypoplasia, Abnormality of the elbow, Abnormal cortical bone morphology, Abnormal rib m... ORPHA:1486
Holt-Oram Syndrome
Pectus excavatum, Triphalangeal thumb, Phocomelia, Aplasia/Hypoplasia of the radius, Abnormal cla... ORPHA:392
Ciliary Dyskinesia, Primary, 1
Pneumonia, Recurrent bronchitis, Bronchiectasis, Chronic rhinitis, Ciliary dyskinesia, Chronic si... OMIM:244400
Melnick-Needles Syndrome
Short clavicles, Respiratory insufficiency, Bowing of the long bones, Short thorax, Abnormality o... ORPHA:2484
Spondylocostal Dysostosis 1, Autosomal Recessive
Death in infancy, Vertebral fusion, Block vertebrae, Recurrent respiratory infections, Rib fusion OMIM:277300
Hyperparathyroidism, Transient Neonatal
Thin ribs, Short ribs, Osteopenia, Respiratory distress, Narrow chest, Femoral bowing OMIM:618188
Craniosynostosis, Herrmann-Opitz Type
Aplasia/Hypoplasia of the lungs, Intrauterine growth retardation, Craniosynostosis, Split hand, F... ORPHA:2145
Autosomal Dominant Hyper-Ige Syndrome
Atelectasis, Craniosynostosis, Cough, Osteomyelitis, Osteopenia, Recurrent respiratory infections... ORPHA:2314
Osteogenesis Imperfecta, Type Ix
Short lower limbs, Pectus excavatum, Decreased calvarial ossification, Pectus carinatum, Wormian ... OMIM:259440
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Death in infancy, Triphalangeal thumb, Aplasia/Hypoplasia of the lungs, Respiratory insufficiency... ORPHA:1120
Craniodiaphyseal Dysplasia, Autosomal Dominant
Thickened ribs, Diaphyseal sclerosis, Craniofacial hyperostosis, Cortical sclerosis, Craniofacial... OMIM:122860
Achondrogenesis Type 1A
Aplasia/Hypoplasia of the lungs, Multiple rib fractures, Short thorax, Short foot, Narrow chest, ... ORPHA:93299
Thoracolaryngopelvic Dysplasia
Horizontal ribs, Irregular chondrocostal junctions, Hypoplastic iliac wing, Metaphyseal widening,... OMIM:187760
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Irregular epiphyses, Small epiphyses, Metaphyseal spurs, Thoracic hypoplasia, Bowing of the legs,... OMIM:608728
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Missing ribs, Arachnodactyly, Respiratory distress, Recurrent respiratory infections, Abnormal ri... ORPHA:2759
Spondylometaphyseal Dysplasia, A4 Type
Coxa vara, Limitation of joint mobility, Flared, irregular rib ends, Short palm ORPHA:168555
Spondyloepimetaphyseal Dysplasia, Irapa Type
Upper limb undergrowth, Metaphyseal dysplasia, Pectus carinatum, Capitate-hamate fusion, Short me... OMIM:271650
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormality of epiphysis morphology, Bowing of the long bones, Abnormal clavicle morphology, Abno... ORPHA:93267
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Tibial bowing, Radial bowing, Intrauterine growth retardation, Abnormally ossified vertebrae, Low... ORPHA:3035
Dyggve-Melchior-Clausen Disease
Metaphyseal dysplasia, Hypoplastic acetabulae, Epiphyseal dysplasia, Short thorax, Iliac crest se... ORPHA:239
Osteogenesis Imperfecta, Type Ii
Thoracic hypoplasia, Tibial bowing, Broad long bones, Thin ribs, Respiratory insufficiency, Wormi... OMIM:166210
Metaphyseal Chondrodysplasia, Schmid Type
Osteosclerosis of ribs, Genu varum, Metaphyseal irregularity, Short tubular bones of the hand, Fe... ORPHA:174
Alpha-1-Antitrypsin Deficiency
Wheezing, Chronic pulmonary obstruction, Chronic bronchitis, Panacinar emphysema, Dyspnea OMIM:613490
Lymphangiectasia, Intestinal
Stillbirth, Prominent floating ribs OMIM:152800
Greenberg Dysplasia
Epiphyseal stippling, Neonatal death, Short ribs, Abnormal bone structure, Multiple prenatal frac... OMIM:215140
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Hip dislocation, Emphysema, Arachnodactyly OMIM:614100
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Tibial bowing, Fibular bowing, Thin bony cortex, Deformed rib cage, Bowing of the legs, Enlargeme... OMIM:600081
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta
Thin ribs, Delayed closure of the anterior fontanelle, Asymmetry of the thorax, Increased suscept... OMIM:604922
Fibrochondrogenesis 1
Broad ischia, Short ribs, Joint contracture of the hand, Camptodactyly, Short long bone, Anterior... OMIM:228520
Cat-Eye Syndrome
Intrauterine growth retardation, Hip dysplasia, Abnormal rib morphology ORPHA:195
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Hypoplastic iliac wing, Enlarged metacarpal epiphyses, Broad toe, Cupped ribs, Short foot, Enlarg... OMIM:609616
Juberg-Hayward Syndrome
Toe syndactyly, Intrauterine growth retardation, Abnormality of the elbow, Hammertoe, Hypoplasia ... ORPHA:2319
Chronic Beryllium Disease
Reticulonodular pattern on pulmonary HRCT, Abnormal respiratory system physiology, Lymphocytic in... ORPHA:133
Pulmonary Hemosiderosis
Pulmonary fibrosis, Respiratory insufficiency, Recurrent intrapulmonary hemorrhage, Transient pul... OMIM:178550
Autosomal Recessive Kenny-Caffey Syndrome
Cortical thickening of long bone diaphyses, Thin clavicles, Intrauterine growth retardation, Thin... ORPHA:93324
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Decreased calvarial ossification, Intrauterine growth retardation, Abnormal rib morphology, Recur... ORPHA:2772
Holzgreve Syndrome
Abnormality of the ulna, Aplasia/Hypoplasia of the lungs, Intrauterine growth retardation, Abnorm... ORPHA:2167
Poland Syndrome
Unilateral oligodactyly, Short ribs, Sprengel anomaly, Syndactyly, Rib fusion, Unilateral brachyd... OMIM:173800
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Neonatal respiratory distress, Interstitial pneumonitis, Tachypnea, Spontaneous neonatal pneumoth... ORPHA:217563
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Intrauterine growth retardation, Thin ribs, Hypoplastic iliac wing, Metaphyseal cupping of metaca... OMIM:300863
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Metaphyseal cupping, Thin ribs, Short ribs, Narrow chest, Hypoplastic ischia, Hypoplastic pubic b... OMIM:151210
Spondylocostal Dysostosis 3, Autosomal Recessive
Rib fusion, Supernumerary vertebral ossification centers, Slender finger OMIM:609813
10Q22.3Q23.3 Microduplication Syndrome
Abnormal clavicle morphology, Abnormal rib morphology ORPHA:276422
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Thoracic hypoplasia, Intrauterine growth retardation, Adducted thumb, Decreased fibular diameter,... OMIM:616897
Mosaic Trisomy 14
Narrow chest, Abnormal rib morphology, Camptodactyly of finger ORPHA:1703
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral fusion, Missing ribs, Short thorax, Block vertebrae, Restrictive ventilatory defect, Ri... OMIM:613686
Pseudoachondroplasia
Genu varum, Fragmented epiphyses, Metaphyseal irregularity, Genu recurvatum, Fragmented, irregula... OMIM:177170
Phaver Syndrome
Broad hallux phalanx, Triphalangeal thumb, Intrauterine growth retardation, Ulnar deviation of fi... ORPHA:2876
Spondyloepimetaphyseal Dysplasia, Strudwick Type
C1-C2 subluxation, Metaphyseal dappling, Anterior rib cupping, Pectus carinatum, Metaphyseal irre... OMIM:184250
Infantile-Onset X-Linked Spinal Muscular Atrophy
Interphalangeal joint contracture of finger, Ankle flexion contracture, Hip contracture, Respirat... ORPHA:1145
Scedosporiosis
Sinusitis, Arthralgia/arthritis, Bronchial breath sound, Abnormal respiratory system physiology, ... ORPHA:449280
Allergic Bronchopulmonary Aspergillosis
Respiratory insufficiency, Bronchiectasis, Pulmonary arterial hypertension, Cough, Asthma, Emphysema ORPHA:1164
Cooper-Jabs Syndrome
Respiratory insufficiency, Missing ribs, Proximal placement of thumb, Reduced bone mineral densit... ORPHA:1488
Lymphoid Interstitial Pneumonia
Wheezing, Subpleural interstitial thickening, Hypoxemia, Crackles, Bronchiectasis, Centrilobular ... ORPHA:79128
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Knee dislocation, Thin ribs, Tapered finger, Multiple joint dislocation, Metaphyseal irregularity... OMIM:618395
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Death in infancy, Metaphyseal irregularity, Short ribs, Foot polydactyly, Hand polydactyly, Recur... OMIM:208500
3M Syndrome
Horizontal ribs, Intrauterine growth retardation, Thin ribs, Rocker bottom foot, Abnormality of t... ORPHA:2616
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Small epiphyses, Anterior rib cupping, Thin ribs, Short finger, Metaphyseal cupping of metacarpal... OMIM:300232
Stuve-Wiedemann Syndrome 1
Broad ischia, Metaphyseal rarefaction, Thickened cortex of long bones, Apnea, Pathologic fracture... OMIM:601559
Renal Dysplasia-Limb Defects Syndrome
Fibular aplasia, Intrauterine growth retardation, Thin ribs, Phocomelia, Pneumothorax, Aplasia of... OMIM:266910
Kenny-Caffey Syndrome, Type 1
Thin clavicles, Long clavicles, Intrauterine growth retardation, Thin ribs, Delayed closure of th... OMIM:244460
Lymphangioleiomyomatosis
Pneumothorax, Cough, Pulmonary lymphangiomyomatosis, Pulmonary infiltrates, Restrictive ventilato... ORPHA:538
Fibrochondrogenesis
Respiratory insufficiency, Hypoplastic scapulae, Abnormality of the metaphysis, Short ribs, Narro... ORPHA:2021
Surfactant Metabolism Dysfunction, Pulmonary, 5
Respiratory insufficiency, Interlobular septal thickening, Ground-glass opacification, Exertional... OMIM:614370
Femoral-Facial Syndrome
Sprengel anomaly, Coxa vara, Hip dysplasia, Abnormality of fibula morphology, Abnormal rib morpho... ORPHA:1988
Cleidocranial Dysplasia
Sinusitis, Sleep apnea, Abnormality of pelvic girdle bone morphology, Recurrent respiratory infec... ORPHA:1452
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Intercostal muscle weakness, Respiratory insufficiency, Pulmonary arterial hypertension, Recurren... ORPHA:258
Multiple Pterygium Syndrome, X-Linked
Intrauterine growth retardation, Vertebral fusion, Thin ribs, Short finger, Increased susceptibil... OMIM:312150
Pulmonary Alveolar Microlithiasis
Pleural thickening, Exertional dyspnea, Restrictive ventilatory defect, Respiratory failure, Club... ORPHA:60025
Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness
Metaphyseal dysplasia, Genu varum, Irregular chondrocostal junctions, Metaphyseal irregularity, S... OMIM:250420
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Bifid sternum, Supraumbilical raphe OMIM:140850
Staphylococcal Necrotizing Pneumonia
Hypoxemia, Pneumonia, Tachypnea, Pneumothorax, Cough, Pleural empyema, Respiratory distress, Pulm... ORPHA:36238
White Forelock With Malformations
Finger syndactyly, Sprengel anomaly, Abnormal rib morphology, Clinodactyly of the 5th finger, Joi... ORPHA:2475
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Periostitis, Fused cervical vertebrae, Osteopenia, Osteomyelitis, Respiratory distress, Pulmonary... OMIM:612852
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Hypophosphatemic rickets, Tibial bowing, Fibular bowing, Thin bony cortex, Deformed rib cage, Bow... OMIM:241530
Dyggve-Melchior-Clausen Disease
Genu varum, Shield chest, Short metatarsal, Prominent calcaneus, Enlargement of the costochondral... OMIM:223800
Surfactant Metabolism Dysfunction, Pulmonary, 4
Reduced forced expiratory volume in one second, Tachypnea, Ground-glass opacification, Decreased ... OMIM:300770
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Death in infancy, Intrauterine growth retardation, Abnormality of the calcaneus, Thin ribs, Hypop... ORPHA:163966
Multiple Pterygium Syndrome, Lethal Type
Intrauterine growth retardation, Vertebral fusion, Thin ribs, Short finger, Increased susceptibil... OMIM:253290
Idiopathic Pulmonary Hemosiderosis
Restrictive ventilatory defect, Crackles, Ground-glass opacification, Cough, Respiratory failure,... ORPHA:99931
Pulmonary Non-Tuberculous Mycobacterial Infection
Chronic pulmonary obstruction, Crackles, Bronchiectasis, Pneumothorax, Cough, Respiratory distres... ORPHA:411703
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Abnormal rib morphology, Azoospermia ORPHA:2578
Pulmonary Alveolar Proteinosis, Acquired
Hypoxemia, Lung abscess, Pneumonia, Cough, Clubbing, Decreased DLCO, Restrictive ventilatory defe... OMIM:610910
Mucopolysaccharidosis, Type Iva
Restrictive ventilatory defect, Epiphyseal deformities of tubular bones, Cervical subluxation, Me... OMIM:253000
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Aplasia/Hypoplasia of fingers, Toe syndactyly, Broad hallux phalanx, Pectus carinatum, Abnormalit... ORPHA:3082
Dysosteosclerosis
Broad femoral neck, Abnormal metaphyseal trabeculation, Diaphyseal thickening, Obstructive sleep ... OMIM:224300
Isolated Klippel-Feil Syndrome
Abnormal vertebral segmentation and fusion, Cervical C2/C3 vertebral fusion, Sprengel anomaly, Ab... ORPHA:2345
Pulmonary Capillary Hemangiomatosis
Hypoxemia, Pulmonary capillary hemangiomatosis, Centrilobular ground-glass opacification on pulmo... ORPHA:199241
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Tibial bowing, Short finger, Metaphyseal widening, Metaphyseal irregularity, Hypoplastic inferior... OMIM:608940
Diffuse Alveolar Hemorrhage
Hypoxemia, Irregular septal thickening on pulmonary HRCT, Ground-glass opacification, Cough, Pulm... ORPHA:90060
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Pneumocystosis
Hypoxemia, Respiratory insufficiency, Interstitial pneumonitis, Exertional dyspnea, Combined cyst... ORPHA:723
Fanconi Renotubular Syndrome 5
Lung adenocarcinoma, Genu valgum, Pulmonary fibrosis, Decreased DLCO, Emphysema, Hypophosphatemic... OMIM:618913
Sternum, Premature Obliteration Of Sutures Of
Short sternum, Premature sternal synostosis OMIM:184800
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Triangular shaped distal phalanges of the hand, Abnormal diaphysis morphology, Recurrent aspirati... ORPHA:73230
Autosomal Recessive Spondylocostal Dysostosis
Intrauterine growth retardation, Respiratory insufficiency, Rib segmentation abnormalities, Short... ORPHA:2311
Lethal Congenital Contracture Syndrome 5
Death in infancy, Respiratory insufficiency, Thin ribs, Flexion contracture, Congenital contracture OMIM:615368
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Tibial bowing, Fibular bowing, Thin bony cortex, Subperiosteal bone resorption, Bowing of the leg... OMIM:264700
Prune Belly Syndrome
Pectus excavatum, Aplasia/Hypoplasia of the lungs, Congenital hip dislocation, Abnormal rib morph... ORPHA:2970
Severe Congenital Nemaline Myopathy
Adducted thumb, Thin ribs, Multiple prenatal fractures, Abnormal thorax morphology, Arthrogryposi... ORPHA:171430
Acro-Renal-Mandibular Syndrome
Intrauterine growth retardation, Thin ribs, Pectus carinatum, Hypoplastic scapulae, Abnormal lung... ORPHA:958
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Pectus excavatum, Abnormal clavicle morphology, Fused cervical vertebrae, Abnormal rib morphology... ORPHA:2522
Multiple Synostoses Syndrome 1
Short lower limbs, 2-3 toe syndactyly, Cutaneous finger syndactyly, Lower limb undergrowth, Cubit... OMIM:186500
Short Rib-Polydactyly Syndrome
Abnormal ilium morphology, Short ribs, Reduced bone mineral density, Syndactyly, Respiratory fail... ORPHA:1505
Mucopolysaccharidosis, Type Ivb
Restrictive ventilatory defect, Epiphyseal deformities of tubular bones, Cervical subluxation, Me... OMIM:253010
Spondyloepimetaphyseal Dysplasia, Missouri Type
Small epiphyses, Genu varum, Tibial bowing, Radial bowing, Flared iliac wing, Osteoarthritis, Uln... OMIM:602111
Sprengel Deformity
Sprengel anomaly, Rib segmentation abnormalities OMIM:184400
Osteogenesis Imperfecta, Type Iii
Decreased calvarial ossification, Tibial bowing, Thin ribs, Pulmonary arterial hypertension, Worm... OMIM:259420
Meier-Gorlin Syndrome 4
Patellar aplasia, Lateral clavicle hook, Intrauterine growth retardation, Genu recurvatum, Slende... OMIM:613804
Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:97330
Acute Lung Injury
Hypoxemia, Pneumonia, Tachypnea, Respiratory distress, Abnormal pulmonary interstitial morphology... ORPHA:178320
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Abnormal sternum morphology, Pulmonary arterial hypertension, Short ribs, Respiratory distress, A... ORPHA:2519
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Hypogonadism, Abnormality of the humeroulnar joint, Abnormal rib morphology, Decreased fertility ORPHA:2234
Renpenning Syndrome
Pectus excavatum, Abnormal thumb morphology, Sprengel anomaly, Abnormal rib morphology, Joint sti... ORPHA:3242
Spondylocostal Dysostosis 5
Vertebral fusion, Pectus carinatum, Posterior rib fusion, Missing ribs, Supernumerary ribs OMIM:122600
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Pectus carinatum, Hypogonadotropic hypogonadism, Craniofacial hyperostosis, Abnormal rib morpholo... ORPHA:3068
Diffuse Cutaneous Systemic Sclerosis
Pulmonary arterial hypertension, Arthritis, Dyspareunia, Narrow foramen obturatorium, Pulmonary i... ORPHA:220393
Oculocerebrorenal Syndrome Of Lowe
Death in infancy, Respiratory insufficiency, Atelectasis, Azoospermia, Abnormality of epiphysis m... ORPHA:534
Osteogenesis Imperfecta, Type Xv
Joint hypermobility, Recurrent fractures, Bowing of limbs due to multiple fractures, Thin ribs OMIM:615220
Eosinophilia, Familial
Pulmonary infiltrates, Recurrent bronchitis OMIM:131400
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Pectus excavatum, Intrauterine growth retardation, Posterior rib fusion, Pulmonary arterial hyper... OMIM:608406
Whim Syndrome
Sinusitis, Pneumonia, Bronchiectasis, Respiratory tract infection, Recurrent upper respiratory tr... ORPHA:51636
X-Linked Hypophosphatemia
Genu varum, Rickets, Reduced bone mineral density, Bowing of the legs, Generalized osteosclerosis... ORPHA:89936
Becker Nevus Syndrome
Pectus excavatum, Pectus carinatum, Supernumerary ribs, Rib fusion, Abnormality of tibia morphology ORPHA:64755
Lethal Congenital Contracture Syndrome 10
Stiff neck, Intrauterine growth retardation, Adducted thumb, Narrow chest, Broad ribs, Overlappin... OMIM:617022
Radio-Renal Syndrome
Abnormality of the elbow, Hypoplasia of the radius, Respiratory distress, Abnormal rib morphology... ORPHA:3015
Zygomycosis
Sinusitis, Pneumothorax, Epistaxis, Rhinorrhea, Cough, Pulmonary infiltrates, Acute infectious pn... ORPHA:73263
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Osteoporosis, Exerti... ORPHA:365
Nephronophthisis-Like Nephropathy 2
Recurrent respiratory infections, Pulmonary infiltrates, Cough, Bronchiectasis OMIM:619468
Frontometaphyseal Dysplasia 1
Increased density of long bone diaphyses, Long phalanx of finger, Ankle flexion contracture, Stri... OMIM:305620
Trisomy 13
Intrauterine growth retardation, Abnormal lung lobation, Narrow chest, Abnormal rib morphology, P... ORPHA:3378
Tularemia
Pneumonia, Cough, Respiratory distress, Pulmonary infiltrates, Pleural effusion, Abnormal pulmona... ORPHA:3392
Laryngotracheoesophageal Cleft Type 4
Abnormal rib morphology, Respiratory insufficiency ORPHA:93941
Bare Lymphocyte Syndrome, Type I
Recurrent bronchitis, Bronchiectasis, Chronic sinusitis, Bronchiolitis, Emphysema OMIM:604571
Osteogenesis Imperfecta, Type Vii
Decreased calvarial ossification, Pectus excavatum, Death in infancy, Bowing of the legs, Multipl... OMIM:610682
Van Den Ende-Gupta Syndrome
Hallux valgus, Pectus excavatum, Stridor, Thin ribs, Lateral clavicle hook, Glenoid fossa hypopla... OMIM:600920
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Abnormal diaphysis morphology, Thin bony cortex, Overtubulated long bones, Wormian bones, Osteope... ORPHA:85184
Opsismodysplasia
Metaphyseal cupping, Anterior rib cupping, Posterior rib cupping, Short foot, Narrow chest, Hypop... OMIM:258480
Antley-Bixler Syndrome
Elbow ankylosis, Narrow pelvis bone, Craniosynostosis, Arachnodactyly, Narrow chest, Abnormal rib... ORPHA:83
Birt-Hogg-Dubé Syndrome
Pneumothorax, Pulmonary sequestration, Emphysema ORPHA:122
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Arthrogryposis multiplex congenita, Craniosynostosis, Thin ribs, Brachydactyly OMIM:618265
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
C1-C2 subluxation, Epiphyseal stippling, Long fibula, Short ribs, Hip subluxation, Restrictive ve... OMIM:271665
Campomelic Dysplasia
Thoracic hypoplasia, Shortening of all phalanges of the toes, Shortening of all phalanges of fing... OMIM:114290
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Sprengel anomaly, Abnormal rib morphology, Brachydactyly, Sandal gap ORPHA:2180
Mucopolysaccharidosis Type 4
Pectus carinatum, Abnormality of epiphysis morphology, Bowing of the long bones, Short thorax, Ab... ORPHA:582
Avian Influenza
Productive cough, Hypoxemia, Pneumonia, Tachypnea, Pneumothorax, Ground-glass opacification, Spon... ORPHA:454836
Eiken Syndrome
Broad metatarsal, Broad femoral neck, Delayed tarsal ossification, Short middle phalanx of finger... OMIM:600002
Three M Syndrome 2
Intrauterine growth retardation, Thin ribs, Pectus carinatum, Prominent calcaneus, Short thorax, ... OMIM:612921
Osteogenesis Imperfecta, Type Xviii
Thin bony cortex, Thin ribs, Bowing of the long bones, Joint laxity, Wormian bones, Joint hypermo... OMIM:617952
Mucopolysaccharidosis, Type Iiia
Joint stiffness, Thickened ribs, Dense calvaria, Recurrent upper respiratory tract infections OMIM:252900
Campomelia, Cumming Type
Death in infancy, Bowing of the long bones, Abnormal thorax morphology, Abnormal rib morphology, ... ORPHA:1318
Cenani-Lenz Syndrome
Toe syndactyly, Oligodactyly, Synostosis of carpal bones, Hypoplasia of the radius, Finger syndac... ORPHA:3258
Hypocalcemic Vitamin D-Dependent Rickets
Genu varum, Tibial bowing, Thin bony cortex, Subperiosteal bone resorption, Deformed rib cage, En... ORPHA:289157
Immunodeficiency 27A
Pneumonia, Hypoplasia of the femoral head, Salmonella osteomyelitis, Pulmonary infiltrates, Abnor... OMIM:209950
Lujo Hemorrhagic Fever
Stiff neck, Crackles, Rhinitis, Respiratory distress, Nonproductive cough, Atelectasis ORPHA:319213
Meier-Gorlin Syndrome 1
Cutaneous finger syndactyly, Genu varum, Short ribs, Joint contracture of the hand, Camptodactyly... OMIM:224690
Spondylometaphyseal Dysplasia, Sedaghatian Type
Cone-shaped epiphysis, Respiratory insufficiency, Abnormal scapula morphology, Long fibula, Short... ORPHA:93317
Septopreoptic Holoprosencephaly
Abnormal rib morphology ORPHA:280195
Tetraamelia-Multiple Malformations Syndrome
Aplasia/Hypoplasia of the lungs, Abnormal lung lobation, Missing ribs, Aplasia/Hypoplasia involvi... ORPHA:3301
Cole-Carpenter Syndrome
Intrauterine growth retardation, Bowing of the long bones, Wormian bones, Abnormality of the meta... ORPHA:2050
Kbg Syndrome
Vertebral fusion, Radial deviation of finger, Cervical ribs, Syndactyly, Thoracic kyphosis, Rib f... OMIM:148050
22Q11.2 Deletion Syndrome
Chronic pulmonary obstruction, Intrauterine growth retardation, Atelectasis, Abnormal lung lobati... ORPHA:567
Pyknoachondrogenesis
Poorly ossified vertebrae, Horizontal ribs, Abnormal intramembranous ossification, Short iliac bo... ORPHA:3003
Mucolipidosis Iii Alpha/Beta
Soft tissue swelling of interphalangeal joints, Irregular carpal bones, Craniosynostosis, Short r... OMIM:252600
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Thoracic hypoplasia, Pectus excavatum, Intrauterine growth retardation, Coat hanger sign of ribs,... ORPHA:254528
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
Joint hypermobility, Thin ribs, Respiratory insufficiency ORPHA:456328
Kagami-Ogata Syndrome
Long clavicles, Thin ribs, Long fingers, Pulmonary arterial hypertension, Bell-shaped thorax, Fle... OMIM:608149
Mucopolysaccharidosis Type 6
Sinusitis, Epiphyseal dysplasia, Abnormality of the metaphysis, Genu valgum, Recurrent upper resp... ORPHA:583
Cutis Laxa, Autosomal Recessive, Type Ia
Pectus excavatum, Arachnodactyly, Recurrent respiratory infections, Emphysema, Joint laxity OMIM:219100
Otopalatodigital Syndrome Type 2
Fibular aplasia, Tarsal synostosis, Pulmonary hypoplasia, Abnormal vertebral segmentation and fus... ORPHA:90652
Xylt1-Cdg
Short clavicles, Broad thumb, Joint dislocation, Short femoral neck, Coxa valga, Broad ribs, Flar... ORPHA:370930
Craniometadiaphyseal Dysplasia
Genu varum, Broad long bones, Sclerosis of skull base, Cubitus valgus, Wormian bones, Genu valgum... OMIM:269300
Anti-Glomerular Basement Membrane Disease
Pulmonary infiltrates, Cough, Arthritis, Respiratory insufficiency ORPHA:375
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Decreased calvarial ossification, Long thorax, Horizontal ribs, Lateral clavicle hook, Pulmonary ... OMIM:617925
Mucopolysaccharidosis, Type Vi
Hypoplastic iliac wing, Metaphyseal widening, Hypoplastic acetabulae, Metaphyseal irregularity, E... OMIM:253200
Adult Acute Respiratory Distress Syndrome
Hypoxemia, Pneumonia, Abnormal blood gas level, Pulmonary edema, Pulmonary infiltrates, Respirato... ORPHA:70578
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Horizontal ribs, Respiratory insufficiency, Postaxial polydactyly, Short ribs, Preaxial polydacty... OMIM:616300
Fusariosis
Sinusitis, Productive cough, Lung abscess, Pneumonia, Bronchiectasis, Ground-glass opacification,... ORPHA:228119
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Thoracic hypoplasia, Horizontal ribs, Absent tibia, Lateral clavicle hook, Cone-shaped epiphysis,... OMIM:613091
Multiple Pterygium Syndrome, Escobar Variant
Dysplastic patella, Long clavicles, Popliteal pterygium, Intercrural pterygium, Patellar aplasia,... OMIM:265000
Axial Mesodermal Dysplasia Spectrum
Aplasia/Hypoplasia of the lungs, Abnormality of the knee, Missing ribs, Abnormal rib morphology, ... ORPHA:1834
Keutel Syndrome
Sinusitis, Costal cartilage calcification, Peripheral pulmonary artery stenosis, Epiphyseal stipp... OMIM:245150
Osteogenesis Imperfecta, Type Viii
Tibial bowing, Radial bowing, Thin ribs, Wormian bones, Multiple prenatal fractures, Osteopenia, ... OMIM:610915
Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa
Short clavicles, Prominent deltoid tuberosities, Short ribs, Short humerus, Broad ribs, Short fem... OMIM:610319
Kyphomelic Dysplasia
Flat acetabular roof, Thoracic hypoplasia, Anterior rib cupping, Tibial bowing, Radial bowing, La... OMIM:211350
Alpha-1-Antitrypsin Deficiency
Emphysema ORPHA:60
Spondylometaphyseal Dysplasia, Sedaghatian Type
Metaphyseal irregularity, Long fibula, Short ribs, Cupped ribs, 11 pairs of ribs, Iliac crest ser... OMIM:250220
Osteogenesis Imperfecta, Type Xvi
Beaded ribs, Joint hypermobility, Osteopenia OMIM:616229
Osteogenesis Imperfecta, Type X
Thin ribs, Bowing of the long bones, Generalized joint laxity, Chronic lung disease, Genu valgum,... OMIM:613848
Brachytelephalangic Chondrodysplasia Punctata
C1-C2 subluxation, Central apnea, Neonatal respiratory distress, Epiphyseal stippling, Short dist... ORPHA:79345
T-Cell Immunodeficiency With Thymic Aplasia
Bronchiectasis, Recurrent bronchopulmonary infections, Recurrent pneumonia, Emphysema, Metaphysea... OMIM:242700
Fibrous Dysplasia Of Bone
Abnormality of the ulna, Abnormality of femur morphology, Thin bony cortex, Rickets, Fibrous dysp... ORPHA:249
Mucopolysaccharidosis, Type Iiib
Joint stiffness, Thickened ribs, Dense calvaria, Recurrent upper respiratory tract infections OMIM:252920
Cole-Carpenter Syndrome 2
Pectus excavatum, Thin ribs, Wormian bones, Osteopenia, Narrow iliac wing, Coronal craniosynostos... OMIM:616294
Ellis-Van Creveld Syndrome
Horizontal ribs, Pectus carinatum, Capitate-hamate fusion, Hypoplastic iliac wing, Short ribs, Ge... OMIM:225500
Autosomal Recessive Multiple Pterygium Syndrome
Pectus excavatum, Popliteal pterygium, Pterygium, Intrauterine growth retardation, Neonatal respi... ORPHA:2990
Congenital Tracheomalacia
Wheezing, Neonatal respiratory distress, Apnea, Decreased peak expiratory flow, Emphysema, Respir... ORPHA:95430
Cartilage-Hair Hypoplasia
Metaphyseal dysplasia, Short thorax, Limited elbow extension, Abnormality of pelvic girdle bone m... ORPHA:175
Gaucher Disease, Type I
Epistaxis, Pulmonary arterial hypertension, Pathologic fracture, Pulmonary infiltrates, Abnormal ... OMIM:230800
Spondylometaphyseal Dysplasia, Algerian Type
Metaphyseal dysplasia, Anterior rib cupping, Short greater sciatic notch, Flared femoral metaphys... OMIM:184253
Dextrocardia
Abnormal pulmonary situs morphology, Abnormal lung lobation, Congenital hip dislocation, Abnormal... ORPHA:1666
Cardiospondylocarpofacial Syndrome
Tarsal synostosis, Cone-shaped epiphysis, Fused cervical vertebrae, Pseudoepiphyses, Carpal synos... OMIM:157800
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Tachypnea, Respiratory insufficiency, Atelectasis OMIM:618278
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Hallux valgus, Epiphyseal dysplasia, Cupped ribs, Pathologic fracture, 11 pairs of ribs, Hip subl... OMIM:271640
Shwachman-Diamond Syndrome 1
Irregular ossification at anterior rib ends, Proximal femoral metaphyseal irregularity, Anterior ... OMIM:260400
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Oligospermia, Metacarpal synostosis, Cubitus valgus, Limited elbow extension, Camptodactyly, Femo... ORPHA:95699
Hypocomplementemic Urticarial Vasculitis
Joint dislocation, Arthritis, Cough, Restrictive ventilatory defect, Dyspnea, Airway obstruction,... ORPHA:36412
Oculocerebrocutaneous Syndrome
Missing ribs, Congenital hip dislocation, Finger syndactyly, Abnormal rib morphology, Short dista... ORPHA:1647
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Upper limb undergrowth, Epiphyseal stippling, Prominent calcaneus, Short ribs, Short 1st metacarp... ORPHA:96334
Poland Syndrome
Abnormality of the ulna, Aplasia/Hypoplasia of the thumb, Abnormal sternum morphology, Asymmetry ... ORPHA:2911
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Absent tibia, Short metatarsal, Proximal placement of thumb, Hypoplasia of the radius, Shallow ac... OMIM:609945
Acrorenal-Mandibular Syndrome
Toe syndactyly, Intrauterine growth retardation, Thin ribs, Hypoplastic scapulae, Missing ribs, H... OMIM:200980
Hurler Syndrome
Death in infancy, Abnormality of the elbow, Abnormality of epiphysis morphology, Rhinitis, Abnorm... ORPHA:93473
Autosomal Dominant Centronuclear Myopathy
Neonatal asphyxia, Respiratory insufficiency due to muscle weakness, Spontaneous abortion, Thin ribs ORPHA:169189
Cutis Laxa, Autosomal Dominant 1
Emphysema OMIM:123700
Schwartz-Jampel Syndrome
Death in infancy, Hip contracture, Apnea, Protrusio acetabuli, Increased bone mineral density, Ab... ORPHA:800
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Horizontal ribs, Lateral clavicle hook, Pectus carinatum, Polysyndactyly of hallux, Pulmonary hyp... OMIM:263520
Mucopolysaccharidosis, Type Iiic
Joint stiffness, Thickened ribs, Dense calvaria, Recurrent upper respiratory tract infections OMIM:252930
Relapsing Polychondritis
Abnormal pattern of respiration, Cough, Arthritis, Limitation of joint mobility, Dyspnea, Atelect... ORPHA:728
Osteogenesis Imperfecta
Neonatal respiratory distress, Protrusio acetabuli, Femoral bowing, Abnormality of tibia morpholo... ORPHA:666
Immunodeficiency 60 And Autoimmunity
Recurrent sinopulmonary infections, Pulmonary infiltrates, Pulmonary fibrosis, Bronchiectasis OMIM:618394
Shprintzen-Goldberg Craniosynostosis Syndrome
Metatarsus adductus, Pectus excavatum, Thin ribs, Pectus carinatum, Lateral clavicle hook, Metaph... OMIM:182212
Ulbright-Hodes Syndrome
Fibular aplasia, Severe intrauterine growth retardation, Abnormal forearm bone morphology, Thin r... ORPHA:3404
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Emphysema OMIM:210050
Osteopetrosis, Autosomal Recessive 7
Death in infancy, Multiple rib fractures, Osteopetrosis, Abnormal trabecular bone morphology, Fem... OMIM:612301
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Hypoplastic ilia, Bowing of the legs, Ivory epiphyses, Abnormality of epiphysis morphology, Bowin... ORPHA:85167
Cystic Echinococcosis
Bone cyst, Multiple pulmonary cysts, Asthma, Pulmonary cyst, Abnormal subpleural morphology, Abno... ORPHA:400
Loeys-Dietz Syndrome 4
Abnormal sternum morphology, Pneumothorax, Arachnodactyly, Protrusio acetabuli, Emphysema, Joint ... OMIM:614816
Autosomal Recessive Malignant Osteopetrosis
Abnormality of epiphysis morphology, Chronic rhinitis, Bowing of the long bones, Craniosynostosis... ORPHA:667
Sclerosteosis 1
Sclerotic scapulae, Deviation of finger, Broad ribs, Facial palsy secondary to cranial hyperostos... OMIM:269500
Vacterl/Vater Association
Aplasia/Hypoplasia of the lungs, Intrauterine growth retardation, Aplasia/Hypoplasia of the radiu... ORPHA:887
Epidermodysplasia Verruciformis, Susceptibility To, 4
Emphysema OMIM:618307
Familial Osteodysplasia, Anderson Type
Bifid femur, Increased susceptibility to fractures, Aplastic clavicle, Missing ribs, Abnormal cor... ORPHA:2769
Occipital Horn Syndrome
Pectus excavatum, Short clavicles, Pectus carinatum, Capitate-hamate fusion, Osteoporosis, Limite... OMIM:304150
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Thin ribs, Vertebral fusion, Block vertebrae, Missing ribs, Short ribs, Rib fusion, Pulmonary hyp... OMIM:271520
Ellis Van Creveld Syndrome
Aplasia/Hypoplasia of the lungs, Intrauterine growth retardation, Capitate-hamate fusion, Cubitus... ORPHA:289
Spondyloepimetaphyseal Dysplasia, X-Linked
Metaphyseal irregularity, Long fibula, Limited elbow extension, Short phalanx of finger, Short lo... OMIM:300106
Lenz-Majewski Hyperostotic Dwarfism
Diaphyseal thickening, Proximal symphalangism of hands, Intrauterine growth retardation, Elbow fl... OMIM:151050
Chand Syndrome
Short fifth metatarsal, Atelectasis ORPHA:1401
Hypereosinophilic Syndrome, Idiopathic
Pulmonary infiltrates OMIM:607685
Sarcoidosis, Susceptibility To, 1
Hypoxemia, Bone cyst, Bronchiectasis, Pulmonary arterial hypertension, Arthritis, Elevated bronch... OMIM:181000
Alagille Syndrome
Intrauterine growth retardation, Peripheral pulmonary artery stenosis, Abnormal rib morphology, S... ORPHA:52
Mucopolysaccharidosis, Type Iiid
Joint stiffness, Thickened ribs, Flexion contracture, Recurrent upper respiratory tract infections OMIM:252940
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Thin ribs, Flexion contracture OMIM:614833
Immunodeficiency 89 And Autoimmunity
Bronchiectasis, Recurrent lower respiratory tract infections, Pleural thickening, Asthma, Pulmona... OMIM:619632
Kniest-Like Dysplasia, Lethal
Metaphyseal irregularity, Short ribs, Short diaphyses, Narrow chest, Broad ribs, Dumbbell-shaped ... OMIM:245190
Majeed Syndrome
Synovitis, Increased susceptibility to fractures, Metaphyseal irregularity, Cough, Osteomyelitis,... ORPHA:77297
Fetal Akinesia Deformation Sequence 1
Thoracic hypoplasia, Elbow ankylosis, Thin ribs, Rocker bottom foot, Intrauterine growth retardat... OMIM:208150
Pallister-Hall Syndrome
Toe syndactyly, Intrauterine growth retardation, Mesoaxial hand polydactyly, Oligodactyly, Abnorm... OMIM:146510
Myhre Syndrome
Intrauterine growth retardation, Abnormality of epiphysis morphology, Abnormality of the metaphys... ORPHA:2588
Ear-Patella-Short Stature Syndrome
Patellar aplasia, Intrauterine growth retardation, Abnormality of epiphysis morphology, Craniosyn... ORPHA:2554
Legionnaires Disease
Restrictive ventilatory defect, Respiratory insufficiency, Cough, Pulmonary infiltrates, Abnormal... ORPHA:549
Multiple Pterygium-Malignant Hyperthermia Syndrome
Metatarsus adductus, Pectus excavatum, Tapered finger, Ulnar deviation of finger, Arachnodactyly,... ORPHA:2215
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Aplasia/Hypoplasia of the phalanges of the toes, Decreased calvarial ossification, Phocomelia, Ap... OMIM:276820
Granulomatosis With Polyangiitis
Sinusitis, Hemosiderin-laden macrophages in bronchoalveolar fluid, Respiratory insufficiency, Ele... OMIM:608710
Gm1-Gangliosidosis, Type I
Joint stiffness, Thickened ribs, Death in infancy, Intrauterine growth retardation OMIM:230500
Ehlers-Danlos Syndrome, Vascular Type
Pectus excavatum, Foot acroosteolysis, Pneumothorax, Pulmonary bleb, Pulmonary bulla, Recurrent i... OMIM:130050
Hypertrichotic Osteochondrodysplasia, Cantu Type
Short hallux, Broad hallux phalanx, Osteoporosis, Abnormality of the metaphysis, Finger syndactyl... ORPHA:1517
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Pectus excavatum, Thin ribs, Arachnodactyly, Osteopenia, Joint hypermobility, Thin metatarsal cor... ORPHA:2463
Nestor-Guillermo Progeria Syndrome
Thin ribs, Delayed closure of the anterior fontanelle, Osteoporosis, Pulmonary arterial hypertens... OMIM:614008
Gracile Bone Dysplasia
Thin ribs, Decreased skull ossification, Slender long bone, Flared metaphysis, Brachydactyly OMIM:602361
Autosomal Recessive Cutis Laxa Type 1
Intrauterine growth retardation, Respiratory insufficiency, Peripheral pulmonary artery stenosis,... ORPHA:90349
Neonatal Marfan Syndrome
Hypoxemia, Neonatal respiratory distress, Adducted thumb, Pectus carinatum, Long fingers, Arachno... ORPHA:284979
Pagod Syndrome
Death in infancy, Abnormal clavicle morphology, Pulmonary artery hypoplasia, Abnormality of the p... ORPHA:991
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Thoracic hypoplasia, Coat hanger sign of ribs ORPHA:254534
Mosaic Trisomy 8
Patellar aplasia, Narrow pelvis bone, Arthrogryposis multiplex congenita, Narrow chest, Abnormal ... ORPHA:96061
Craniofaciofrontodigital Syndrome
Pectus excavatum, Cubitus valgus, Joint hypermobility, Broad ribs, Hypoplastic pelvis OMIM:114620
Microphthalmia, Syndromic 3
Vertebral fusion, Hypogonadotropic hypogonadism, Missing ribs, Supernumerary ribs, Rib fusion OMIM:206900
Basal Cell Nevus Syndrome
Irregular ossification of hand bones, Polydactyly, Bifid ribs, Vertebral fusion, Abnormal sternum... OMIM:109400
Autosomal Dominant Popliteal Pterygium Syndrome
Toe syndactyly, Popliteal pterygium, Split hand, Finger syndactyly, Abnormal rib morphology, Join... ORPHA:1300
Mucopolysaccharidosis Type 3
Obstructive sleep apnea, Recurrent sinopulmonary infections, Avascular necrosis of the capital fe... ORPHA:581
Eosinophilic Granulomatosis With Polyangiitis
Sinusitis, Respiratory insufficiency, Arthritis, Recurrent intrapulmonary hemorrhage, Cough, Pulm... ORPHA:183
Coccidioidomycosis
Broad metatarsal, Abnormal sperm morphology, Pneumonia, Abnormality of long bone morphology, Arth... ORPHA:228123
Hallermann-Streiff Syndrome
Pectus excavatum, Decreased number of sternal ossification centers, Thin ribs, Obstructive sleep ... OMIM:234100
Trisomy 1Q
Toe syndactyly, Short thorax, Arachnodactyly, Abnormal rib morphology, Camptodactyly of finger, P... ORPHA:261344
Cerebrocostomandibular Syndrome
Death in infancy, Intrauterine growth retardation, Neonatal respiratory distress, Posterior rib g... ORPHA:1393
Craniorachischisis
Bifid sternum ORPHA:63260
Osteopathia Striata With Cranial Sclerosis
Fibular aplasia, Pectus excavatum, Flexion contracture of toe, Delayed closure of the anterior fo... OMIM:300373
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Horizontal ribs, Short clavicles, Short ribs, Respiratory distress, Narrow chest, Postaxial hand ... OMIM:617088
Cerebrocostomandibular Syndrome
Thoracic hypoplasia, Neonatal respiratory distress, Elbow flexion contracture, Congenital hip dis... OMIM:117650
Alpha-Mannosidosis, Infantile Form
Cortical thickening of long bone diaphyses, Pectus excavatum, Thickened ribs, Pectus carinatum, P... ORPHA:309282
Schinzel-Giedion Midface Retraction Syndrome
Long clavicles, Tibial bowing, Aplasia/Hypoplasia of the pubic bone, Metopic suture patent to nas... OMIM:269150
Goodpasture Syndrome
Hemosiderin-laden macrophages in bronchoalveolar fluid, Restrictive ventilatory defect, Bloody br... OMIM:233450
Cerebrofaciothoracic Dysplasia
Sprengel anomaly, Narrow chest, Bifid ribs, Rib fusion ORPHA:1394
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Thin ribs, Respiratory insufficiency, Osteoporosis, Joint dislocation, Arachnodactyly, Congenital... OMIM:225400
Cutis Laxa, Autosomal Recessive, Type Ic
Pulmonary hypoplasia, Sandal gap, Emphysema, Pulmonary artery stenosis, Tracheomalacia, Joint laxity OMIM:613177
Rajab Interstitial Lung Disease With Brain Calcifications 1
Pectus excavatum, Intrauterine growth retardation, Thin bony cortex, Respiratory insufficiency, R... OMIM:613658
Pontine Tegmental Cap Dysplasia
Aspiration, Ankle clonus, Rib fusion OMIM:614688
Robinow Syndrome, Autosomal Recessive 1
Pectus excavatum, Vertebral fusion, Duplication of the distal phalanx of hand, Broad toe, Missing... OMIM:268310
Absence Of The Pulmonary Artery
Hypocapnia, Bronchiectasis, Pulmonary arterial hypertension, Pulmonary edema, Recurrent pneumonia... ORPHA:980
Netherton Syndrome
Recurrent respiratory infections, Emphysema, Asthma ORPHA:634
Fryns Syndrome
Thoracic hypoplasia, Thin ribs, Rocker bottom foot, Proximal placement of thumb, Stillbirth, Join... OMIM:229850
Kagami-Ogata Syndrome
Thoracic hypoplasia, Coat hanger sign of ribs, Bell-shaped thorax, Limitation of joint mobility, ... ORPHA:254519
Meier-Gorlin Syndrome 6
Short middle phalanx of finger, Patellar aplasia, Tracheobronchomalacia, Sandal gap, Hip dysplasi... OMIM:616835
Marfan Syndrome
Arthralgia/arthritis, Pectus excavatum, Pulmonary artery dilatation, Pectus carinatum, Osteoporos... ORPHA:558
Autosomal Recessive Robinow Syndrome
Broad hallux phalanx, Toe syndactyly, Pectus excavatum, Death in infancy, Pectus carinatum, Synos... ORPHA:1507
Graft Versus Host Disease
Pneumonia, Arthritis, Dupuytren contracture, Pulmonary infiltrates, Limited shoulder movement, St... ORPHA:39812
Camptodactyly Syndrome, Guadalajara Type 3
Thickened cortex of long bones, Small hand, Osteopenia, Short foot, Abnormal rib morphology, Broa... ORPHA:488434
Myhre Syndrome
2-3 toe syndactyly, Intrauterine growth retardation, Cone-shaped epiphysis, Vertebral fusion, Hyp... OMIM:139210
Marfan Syndrome
Metatarsus adductus, Pectus excavatum, Pulmonary artery dilatation, Pectus carinatum, Hammertoe, ... OMIM:154700
Mandibuloacral Dysplasia Progeroid Syndrome
Pectus excavatum, Thin ribs, Decreased fibular diameter, Dysplasia of the femoral head, Sandal ga... OMIM:619127
Spondylocostal Dysostosis-Anal Atresia-Genitourinary Malformation Syndrome
Intrauterine growth retardation, Vertebral fusion, 11 pairs of ribs, Narrow chest, Rib fusion ORPHA:94095
Trisomy 18
Intrauterine growth retardation, Narrow pelvis bone, Deviation of finger, Abnormal rib morphology... ORPHA:3380
Wolf-Hirschhorn Syndrome
Aplasia/Hypoplasia of the lungs, Intrauterine growth retardation, Rib segmentation abnormalities,... ORPHA:280
Weill-Marchesani Syndrome 1
Broad metatarsal, Thin bony cortex, Broad phalanges of the hand, Joint stiffness, Broad ribs, Bra... OMIM:277600
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Tapered finger, Tapered toe, Asthma, Rib fusion, Clinodactyly of the 5th finger ORPHA:544488
Cutis Laxa, Autosomal Recessive, Type Ib
Pulmonary artery aneurysm, Pectus excavatum, Pulmonary artery dilatation, Arachnodactyly, Joint h... OMIM:614437
Aicardi Syndrome
Bifid ribs, Block vertebrae, Missing ribs, Proximal placement of thumb, Supernumerary ribs, Recur... OMIM:304050
Monosomy 9Q22.3
Pectus excavatum, Metopic synostosis, Polydactyly, Abnormal rib morphology, Joint hyperflexibility ORPHA:77301
Idiopathic Hypereosinophilic Syndrome
Ankle swelling, Myelofibrosis, Arthritis, Clubbing, Cough, Respiratory distress, Swelling of prox... ORPHA:3260
Proximal 16P11.2 Microdeletion Syndrome
Rib fusion, Craniosynostosis, Hand polydactyly ORPHA:261197
Smith-Lemli-Opitz Syndrome
2-3 toe syndactyly, Intrauterine growth retardation, Abnormal lung lobation, Ulnar deviation of f... ORPHA:818
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Recurrent respiratory infections, Pulmonary infiltrates, Pulmonary interstitial lymphocyte infilt... OMIM:606367
Simpson-Golabi-Behmel Syndrome
Toe syndactyly, Pectus excavatum, Death in infancy, Vertebral fusion, Congenital hip dislocation,... ORPHA:373
Autosomal Dominant Cutis Laxa
Intrauterine growth retardation, Adducted thumb, Peripheral pulmonary artery stenosis, Bronchiect... ORPHA:90348
Common Variable Immunodeficiency
Pneumonia, Recurrent bronchitis, Bronchiectasis, Restrictive ventilatory defect, Recurrent respir... ORPHA:1572
Coffin-Lowry Syndrome
Pectus excavatum, Pectus carinatum, Tapered finger, Delayed closure of the anterior fontanelle, B... OMIM:303600
Femoral-Facial Syndrome
Toe syndactyly, Rib fusion, Limited shoulder movement, Hypoplastic acetabulae, Short fifth metata... OMIM:134780
Baller-Gerold Syndrome
Aplasia of metacarpal bones, Rib fusion, Lambdoidal craniosynostosis, Limited shoulder movement, ... OMIM:218600
Schinzel-Giedion Syndrome
Tibial bowing, Streak ovary, Abnormal clavicle morphology, Wormian bones, Abnormal thorax morphol... ORPHA:798
Nocardiosis
Productive cough, Pneumonia, Pneumothorax, Pleuritis, Osteomyelitis, Respiratory distress, Nonpro... ORPHA:31204
Drug Reaction With Eosinophilia And Systemic Symptoms
Dyspnea, Pulmonary infiltrates, Cough, Interstitial pneumonitis ORPHA:139402
Weill-Marchesani Syndrome 2
Broad metatarsal, Thin bony cortex, Flexion contracture of toe, Short finger, Elbow flexion contr... OMIM:608328
Primary Sjögren Syndrome
Lymphocytic interstitial pneumonia, Polyarticular arthropathy, Arthritis, Abnormal pulmonary inte... ORPHA:289390
Aicardi Syndrome
Bifid ribs, Block vertebrae, Small hand, Missing ribs, Hip dysplasia, Supernumerary ribs, Rib fusion ORPHA:50
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Long clavicles, Intrauterine growth retardation, Thin ribs, Arachnodactyly, Fused cervical verteb... ORPHA:83617
Restrictive Dermopathy
Thoracic kyphoscoliosis, Increased anterioposterior diameter of thorax, Thin clavicles, Intrauter... ORPHA:1662
Granulomatosis With Polyangiitis
Sinusitis, Chronic pulmonary obstruction, Respiratory insufficiency, Prostatitis, Pleuritis, Epis... ORPHA:900
Sea-Blue Histiocytosis
Pulmonary infiltrates ORPHA:158029
Hereditary Acrokeratotic Poikiloderma
Finger syndactyly, Joint hyperflexibility, Abnormal rib morphology, Camptodactyly of finger, Abno... ORPHA:2907
Craniofacial Dysmorphism, Skeletal Anomalies, And Mental Retardation Syndrome
Bifid ribs, Craniosynostosis, Joint hypermobility, Narrow chest, Postaxial hand polydactyly, Rib ... OMIM:213980
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Tapered finger, Genu valgum, Hip dislocation, Hip dysplasia, Limited elbow extension, Broad ribs,... OMIM:301066
Cranioectodermal Dysplasia 2
Pectus excavatum, Horizontal ribs, Polydactyly, Metopic synostosis, Craniosynostosis, Short ribs,... OMIM:613610
Griscelli Syndrome Type 2
Pulmonary infiltrates ORPHA:79477
Cocaine Intoxication
Wheezing, Tachypnea, Pneumothorax, Cough, Respiratory distress, Pulmonary edema, Pulmonary infilt... ORPHA:90068
Zttk Syndrome
Intrauterine growth retardation, Craniosynostosis, Small hand, Joint hypermobility, Unilateral lu... OMIM:617140
Vexas Syndrome
Pulmonary infiltrates, Arthritis OMIM:301054
Mucopolysaccharidosis Type 2, Severe Form
Restrictive ventilatory defect, Thickened ribs, Diaphyseal thickening, Arthritis, Upper airway ob... ORPHA:217085
Mucopolysaccharidosis Type 2, Attenuated Form
Restrictive ventilatory defect, Thickened ribs, Diaphyseal thickening, Arthritis, Upper airway ob... ORPHA:217093
Waldenström Macroglobulinemia
Epistaxis, Pulmonary infiltrates, Pleural effusion, Respiratory insufficiency ORPHA:33226
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Intrauterine growth retardation, Metopic synostosis, Hyperextensible hand joints, Arachnodactyly,... ORPHA:500150
Fabry Disease
Chronic pulmonary obstruction, Abnormality of femur morphology, Respiratory insufficiency, Arthri... ORPHA:324
Cog1-Cdg
Pulmonary arterial hypertension, Osteopenia, Posterior rib gap, Rib fusion, Coxa valga, Short lon... ORPHA:263508
Charge Syndrome
Bifid femur, Intrauterine growth retardation, Respiratory insufficiency, Abnormality of bone mine... ORPHA:138
Wiedemann-Rautenstrauch Syndrome
Intrauterine growth retardation, Thin ribs, Delayed closure of the anterior fontanelle, Long fing... OMIM:264090
Kindler Epidermolysis Bullosa
Short 5th metacarpal, Finger syndactyly, Abnormal rib morphology, Camptodactyly of finger, Flexio... ORPHA:2908
Monosomy 9P
Proximal placement of thumb, Abnormality of the tarsal bones, Abnormal rib morphology, Limitation... ORPHA:261112
Osteopetrosis With Renal Tubular Acidosis
Pectus excavatum, Obstructive sleep apnea, Prominent floating ribs, Osteopetrosis, Pulmonary arte... ORPHA:2785
Letterer-Siwe Disease
Dyspnea, Pulmonary infiltrates OMIM:246400
Pallister-Hall Syndrome
Distal arthrogryposis, Polydactyly affecting the 4th finger, Broad toe, Recurrent upper and lower... ORPHA:672
Chronic Graft Versus Host Disease
Bronchiolitis obliterans, Wheezing, Bronchiectasis, Pneumothorax, Arthritis, Cough, Pulmonary inf... ORPHA:99921
Cystic Fibrosis With Helicobacter Pylori Gastritis, Megaloblastic Anemia, And Mental Retardation
Recurrent bronchopulmonary infections, Infertility, Emphysema, Recurrent pneumonia OMIM:219721
Sarcoidosis
Bone cyst, Bronchiectasis, Pneumothorax, Cough, Upper airway obstruction, Pulmonary fibrosis, Abn... ORPHA:797
Behçet Disease
Pleuritis, Arthritis, Pulmonary infiltrates, Pulmonary embolism, Orchitis, Pleural effusion ORPHA:117
Wolf-Hirschhorn Syndrome
Metatarsus adductus, Intrauterine growth retardation, Vertebral fusion, Abnormal sternal ossifica... OMIM:194190
Robinow Syndrome
Bifid distal phalanx of the thumb, Missing ribs, Radioulnar dislocation, Syndactyly, Short distal... ORPHA:97360
1P36 Deletion Syndrome
Bifid ribs, Foot polydactyly, 11 pairs of ribs, Short foot, Hip dysplasia, Hypogonadism, Camptoda... ORPHA:1606
Autoimmune Lymphoproliferative Syndrome
Pulmonary infiltrates, Arthritis, Pulmonary fibrosis, Premature ovarian insufficiency ORPHA:3261
Lmna-Related Cardiocutaneous Progeria Syndrome
Emphysema, Abnormality of the pulmonary artery ORPHA:363618
Viss Syndrome
Pulmonary artery aneurysm, Pectus excavatum, Rocker bottom foot, Pectus carinatum, Pneumothorax, ... OMIM:619472
Townes-Brocks Syndrome
Broad hallux phalanx, Toe syndactyly, Triphalangeal thumb, Aplasia/Hypoplasia of the 3rd toe, Bro... ORPHA:857
Malt Lymphoma
Recurrent respiratory infections, Pulmonary infiltrates ORPHA:52417
Chromosome 1P36 Deletion Syndrome, Distal
Metatarsus adductus, Bifid ribs, Abnormal lung lobation, Delayed closure of the anterior fontanel... OMIM:607872
Niemann-Pick Disease Type C
Respiratory insufficiency, Pulmonary infiltrates, Abnormal lung morphology, Respiratory failure, ... ORPHA:646
Carney Triad
Pulmonary infiltrates ORPHA:139411

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 Dppa4

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 Dppa4.

No publications found that use IMPC mice or data for Dppa4.

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MGI Allele Allele Type Produced
Dppa4tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Dppa4tm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice, Tissue
Dppa4tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Dppa4tm1(NCOM)Mfgc Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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