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Gene: Ripply2 MGI:2685968

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

ripply transcriptional repressor 2

Synonyms:

LOC382089, C030002E08Rik

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 Ripply2 mutations

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

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

Human diseases associated with Ripply2 (2 diseases)
Human diseases predicted to be associated with Ripply2 (406 diseases)

The table below shows human diseases associated to Ripply2 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Spondylocostal Dysostosis 6, Autosomal Recessive		Cervical kyphosis, Hemivertebrae, Spinal canal stenosis, Scoliosis, Butterfly vertebrae	OMIM:616566
Autosomal Recessive Spondylocostal Dysostosis		Rib segmentation abnormalities, Abnormal intervertebral disk morphology, Short neck, Kyphosis, Sh...	ORPHA:2311

The table below shows human diseases predicted to be associated to Ripply2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Cervical Vertebral Bridge	Abnormality of the vertebral column	OMIM:118000
Cervical Vertebral Dysplasia	Cervical vertebral dysplasia, Cervical vertebral facet hypoplasia, Anterior atlanto-occipital dis...	OMIM:118005
Dwarfism With Tall Vertebrae	Increased vertebral height	OMIM:126950
Scheuermann Disease	Kyphosis, Morbus Scheuermann	OMIM:181440
Spondylocostal Dysostosis 6, Autosomal Recessive	Cervical kyphosis, Hemivertebrae, Spinal canal stenosis, Scoliosis, Butterfly vertebrae	OMIM:616566
Spondylocostal Dysostosis 2, Autosomal Recessive	Short neck, Vertebral clefting, Rib fusion, Hemivertebrae, Restrictive ventilatory defect, Verteb...	OMIM:608681
Spondylocostal Dysostosis 3, Autosomal Recessive	Kyphosis, Hypoplasia of the odontoid process, Rib fusion, Vertebral segmentation defect, Scoliosi...	OMIM:609813
Spondylocostal Dysostosis 1, Autosomal Recessive	Back pain, Death in infancy, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphol...	OMIM:277300
Osteomesopyknosis	Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:2777
Primary Basilar Invagination	Abnormality of the cervical spine, Abnormal vertebral morphology, Short neck	ORPHA:2285
Ankylosing Vertebral Hyperostosis With Tylosis	Vertebral hyperostosis	OMIM:106400
Spondylocostal Dysostosis 5	Vertebral fusion, Low back pain, Missing ribs, Short neck, Hemivertebrae, Pectus carinatum, Poste...	OMIM:122600
Spondylocamptodactyly Syndrome	Platyspondyly, Scoliosis	ORPHA:3180
Vertebral Hypoplasia With Lumbar Kyphosis	Vertebral hypoplasia, Lumbar kyphosis	OMIM:192900
Autosomal Dominant Spondylocostal Dysostosis	Missing ribs, Short neck, Hyperlordosis, Abnormal sacrum morphology, Short thorax, Abnormal rib m...	ORPHA:1797
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation	Platyspondyly, Anterior beaking of lumbar vertebrae	OMIM:271620
Brachyolmia Type 2	Platyspondyly	OMIM:613678
Spondylocostal Dysostosis 4, Autosomal Recessive	Vertebral fusion, Abnormal odontoid process morphology, Block vertebrae, Missing ribs, Pectus exc...	OMIM:613686
Spondyloepiphyseal Dysplasia, Maroteaux Type	Platyspondyly	OMIM:184095
Dental Anomalies And Short Stature	Platyspondyly, Herniation of intervertebral nuclei, Scoliosis, Narrow vertebral interpedicular di...	OMIM:601216
Autosomal Dominant Brachyolmia	Increased vertebral height, Platyspondyly, Kyphoscoliosis	ORPHA:93304
Becker Nevus Syndrome	Pectus excavatum, Kyphosis, Rib fusion, Pectus carinatum, Supernumerary ribs, Scoliosis, Spina bi...	ORPHA:64755
Acrodysplasia Scoliosis	Vertebral segmentation defect, Spina bifida occulta, Scoliosis	ORPHA:2956
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset	Spinal rigidity, Respiratory insufficiency due to muscle weakness, Death in adolescence, Respirat...	OMIM:300717
Autosomal Recessive Spondylocostal Dysostosis	Rib segmentation abnormalities, Abnormal intervertebral disk morphology, Short neck, Kyphosis, Sh...	ORPHA:2311
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability	Os odontoideum, Lumbar hyperlordosis, Spondylolisthesis at L5-S1, Atlantoaxial instability, Respi...	OMIM:600561
Schneckenbecken Dysplasia	Hypoplastic scapulae, Anterior rib cupping, Ovoid vertebral bodies, Short neck, Lateral clavicle ...	OMIM:269250
Poland Syndrome	Sprengel anomaly, Rib fusion, Short ribs, Hemivertebrae	OMIM:173800
Galactosialidosis	Abnormality of the vertebral column, Abnormal vertebral morphology	ORPHA:351
Spondylosis, Cervical	Spondylolysis, Spina bifida occulta, Cervical spondylosis, Spondylolisthesis	OMIM:184300
Brachyolmia, Maroteaux Type	Platyspondyly, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:93302
Lethal Congenital Contracture Syndrome 3	Neonatal death, Skeletal muscle atrophy, Multiple joint contractures, Arthrogryposis multiplex co...	OMIM:611369
Cerebrofaciothoracic Dysplasia	Short neck, Rib fusion, Hemivertebrae, Vertebral segmentation defect, Narrow chest, Bifid ribs, S...	ORPHA:1394
Spondylometaphyseal Dysplasia, X-Linked	Thoracolumbar scoliosis, Kyphosis, Respiratory insufficiency, Pectus carinatum, Respiratory failu...	OMIM:313420
Acromesomelic Dysplasia, Maroteaux Type	Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Vertebral...	ORPHA:40
Neurogenic Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:100073
Osteoarthritis With Mild Chondrodysplasia	Beaking of vertebral bodies, Irregular vertebral endplates, Platyspondyly, Schmorl's node	OMIM:604864
Sprengel Deformity	Rib segmentation abnormalities, Cervical segmentation defect, Shoulder muscle hypoplasia, Hemiver...	OMIM:184400
Spinal Dysplasia, Anhalt Type	Thoracolumbar scoliosis, Absent spinous processes of lower thoracic and lumbar vertebrae, Narrow ...	OMIM:601344
Metatropic Dysplasia	Relatively short spine, Kyphoscoliosis, Clavicular pseudarthrosis, Cupped ribs, Hypoplasia of the...	OMIM:156530
Congenital Myopathy 10A, Severe Variant	Respiratory distress, Pectus excavatum, Respiratory insufficiency, Restrictive ventilatory defect...	OMIM:614399
Morquio Syndrome C	Platyspondyly	OMIM:252300
Hypochondroplasia	Widened interpedicular distance, Lumbar hyperlordosis	OMIM:146000
Spondyloepimetaphyseal Dysplasia, Shohat Type	Lumbar hyperlordosis, Short neck, Bell-shaped thorax, Platyspondyly, Short ribs, Scoliosis, Verte...	OMIM:602557
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Abnormal rib morphology, Scoliosis, Pectus carinatum	ORPHA:3268
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Short neck, Thin ribs, Irregular vertebral endplates, Platyspondyly, Scoliosis, Narrow vertebral ...	OMIM:618395
Heart Defects-Limb Shortening Syndrome	Death in infancy, Kyphosis, Abnormal rib morphology, Abnormal form of the vertebral bodies, Narro...	ORPHA:1354
Second Metatarsal-Metacarpal Syndrome	Platyspondyly	OMIM:269630
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome	Sacral dimple, Abnormal form of the vertebral bodies, Posterior fusion of lumbosacral vertebrae	ORPHA:2064
Basal Cell Nevus Syndrome 1	Vertebral fusion, Down-sloping shoulders, Spina bifida, Kyphoscoliosis, Hemivertebrae, Vertebral ...	OMIM:109400
Spondyloepimetaphyseal Dysplasia, Shohat Type	Hyperlordosis, Short neck, Upper airway obstruction, Platyspondyly, Squared-off platyspondyly, Sc...	ORPHA:93352
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type	Lumbar hyperlordosis, Irregular vertebral endplates, Platyspondyly, Thoracic kyphosis, Scoliosis,...	OMIM:609223
Femoral-Facial Syndrome	Abnormal sacrum morphology, Rib fusion, Abnormal rib morphology, Vertebral segmentation defect, S...	ORPHA:1988
Krabbe Disease, Atypical, Due To Saposin A Deficiency	Central apnea, Death in infancy, Respiratory failure, Respiratory insufficiency	OMIM:611722
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Respiratory distress, Missing ribs, Dyspnea, Abnormal rib morphology, Hemivertebrae, Abnormal for...	ORPHA:2759
Spinal Muscular Atrophy, Type I	Respiratory failure, Respiratory insufficiency, Death in childhood	OMIM:253300
Spondyloepiphyseal Dysplasia Tarda, Kohn Type	Platyspondyly, Abnormal vertebral morphology	ORPHA:163665
Endosteal Hyperostosis, Worth Type	Clavicular sclerosis, Sclerotic vertebral body, Abnormal rib morphology, Abnormal form of the ver...	ORPHA:2790
Aicardi Syndrome	Block vertebrae, Spina bifida, Missing ribs, Recurrent pneumonia, Rib fusion, Hemivertebrae, Supe...	OMIM:304050
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome	Abnormal rib morphology	ORPHA:2435
Congenital Arthrogryposis With Anterior Horn Cell Disease	Short neck, Respiratory insufficiency due to muscle weakness, Kyphosis, Respiratory failure, Scol...	OMIM:611890
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Beaking of vertebral bodies, Vertebral fusion, Sacral dimple, Short neck, Pectus excavatum, Rib f...	OMIM:213980
Osteogenesis Imperfecta, Type Vi	Beaking of vertebral bodies, Vertebral compression fracture, Biconcave vertebral bodies	OMIM:613982
Congenital Amegakaryocytic Thrombocytopenia	Scoliosis, Abnormal form of the vertebral bodies, Short neck	ORPHA:3319
Achondroplasia	Respiratory distress, Death in infancy, Lumbar hyperlordosis, Upper airway obstruction, Lumbar ky...	OMIM:100800
Pontocerebellar Hypoplasia, Type 1C	Respiratory failure, Respiratory insufficiency, Death in childhood	OMIM:616081
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related	Death in infancy, Respiratory failure, Apnea, Respiratory insufficiency	OMIM:613869
Osteogenesis Imperfecta	Multiple rib fractures, Neonatal respiratory distress, Cervical kyphosis, Pectus excavatum, Kypho...	ORPHA:666
Diaphanospondylodysostosis	Respiratory distress, Missing ribs, Short neck, Myelomeningocele, Short thorax, Enlarged thorax, ...	ORPHA:66637
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A	Reduced vital capacity, Abnormal respiratory system physiology, Respiratory insufficiency, Reduce...	ORPHA:266
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Vertebral fusion, Block vertebrae, Short neck, Missing ribs, Rib fusion, Hemivertebrae, Thin ribs...	OMIM:271520
Hyperekplexia 4	Umbilical hernia, Respiratory failure, Kyphoscoliosis	OMIM:618011
Lethal Osteosclerotic Bone Dysplasia	Respiratory distress, Dyspnea, Respiratory failure, Short neck	ORPHA:1832
Isolated Klippel-Feil Syndrome	Spina bifida, Short neck, Abnormal sacrum morphology, Abnormal rib morphology, Abnormal shoulder ...	ORPHA:2345
Myhre Syndrome	Vertebral fusion, Short neck, Respiratory insufficiency, Respiratory failure, Enlarged vertebral ...	OMIM:139210
Muscular Dystrophy, Congenital, 1B	Respiratory failure, Spinal rigidity	OMIM:604801
Kyphomelic Dysplasia	Anterior rib cupping, Missing ribs, Lateral clavicle hook, Short thorax, Undulate ribs, Abnormal ...	ORPHA:1801
Glycine Encephalopathy 2	Respiratory failure	OMIM:620398
Aicardi Syndrome	Block vertebrae, Missing ribs, Rib fusion, Supernumerary ribs, Scoliosis, Bifid ribs, Butterfly v...	ORPHA:50
Pontine Tegmental Cap Dysplasia	Aspiration, Rib fusion, Hemivertebrae, Scoliosis	OMIM:614688
Developmental And Epileptic Encephalopathy 71	Respiratory failure, Cheyne-Stokes respiration, Respiratory insufficiency	OMIM:618328
Stuve-Wiedemann Syndrome 2	Respiratory distress, Death in adolescence, Stillbirth, Scoliosis, Neonatal death, Pulmonary arte...	OMIM:619751
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Broad ribs, Vertebral arch anomaly	ORPHA:85184
Maxillonasal Dysplasia, Binder Type	Patchy distortion of vertebrae, Vertebral clefting	OMIM:155050
Alagille Syndrome	Abnormal rib morphology, Abnormal form of the vertebral bodies, Vertebral segmentation defect, Sp...	ORPHA:52
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	11 pairs of ribs, Narrow vertebral interpedicular distance, Scoliosis, Short neck	OMIM:620073
Immunodeficiency 95	Respiratory distress, Respiratory failure, Recurrent viral pneumonia	OMIM:619773
Vacterl Association With Hydrocephalus	Respiratory insufficiency, Respiratory failure, Abnormality of the vertebral column, Stillbirth, ...	OMIM:276950
Cartilage-Hair Hypoplasia	Lumbar hyperlordosis, Flaring of lower rib cage, Hypoplasia of the odontoid process, Asymmetry of...	OMIM:250250
Butyrylcholinesterase Deficiency	Respiratory failure requiring assisted ventilation, Respiratory failure	ORPHA:132
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp...	ORPHA:254875
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Respiratory failure requiring assisted ventilation, Dyspnea, Respiratory failure, Aspiration pneu...	ORPHA:90117
Congenital Muscular Dystrophy With Intellectual Disability	Neuropathic spinal arthropathy, Respiratory insufficiency, Respiratory failure, Scoliosis, Decrea...	ORPHA:370968
Metatropic Dysplasia	Abnormal intervertebral disk morphology, Kyphosis, Abnormal rib morphology, Abnormal form of the ...	ORPHA:2635
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies	Superior rib anomalies, Abnormality of the cervical spine	OMIM:307500
Autosomal Recessive Multiple Pterygium Syndrome	Neonatal respiratory distress, Pectus excavatum, Rib fusion, Abnormal sternum morphology, Vertebr...	ORPHA:2990
Postsynaptic Congenital Myasthenic Syndromes	Orthopnea, Thoracic kyphoscoliosis, Reduced vital capacity, Restrictive ventilatory defect, Respi...	ORPHA:98913
Nemaline Myopathy 8	Death in infancy, Respiratory failure	OMIM:615348
Congenital Disorder Of Glycosylation, Type Iig	Thoracic scoliosis, Kyphoscoliosis, Short neck, Rib fusion, Posterior rib gap, Vertebral segmenta...	OMIM:611209
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly	Death in infancy, Lateral clavicle hook, Narrow chest, Short ribs, Horizontal ribs	OMIM:617405
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Respiratory insufficiency due to muscle weakness, Respiratory failure, Recurrent aspiration pneum...	ORPHA:2590
Thanatophoric Dysplasia, Type Ii	Small abnormally formed scapulae, Wide-cupped costochondral junctions, Respiratory insufficiency,...	OMIM:187601
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Neonatal respiratory distress, Increased intervertebral space, Thoracic platyspondyly, Short ribs...	OMIM:618961
Osteogenesis Imperfecta, Type Ix	Beaded ribs, Pectus excavatum, Kyphosis, Pectus carinatum, Platyspondyly, Scoliosis	OMIM:259440
Congenital Myopathy 14	Respiratory insufficiency due to muscle weakness, Death in infancy, Respiratory failure, Apnea	OMIM:618414
Thoracolaryngopelvic Dysplasia	Irregular chondrocostal junctions, Bell-shaped thorax, Irregular vertebral endplates, Short ribs,...	OMIM:187760
Kuskokwim Syndrome	Scoliosis, Abnormal form of the vertebral bodies	ORPHA:1149
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Respiratory distress, Thoracic hypoplasia, Lateral clavicle hook, Respiratory failure, Short ribs...	OMIM:617895
Kbg Syndrome	Vertebral fusion, Short neck, Rib fusion, Vertebral arch anomaly, Cervical ribs, Thoracic kyphosis	OMIM:148050
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Lateral clavicle hook, Respiratory insufficiency, Bell-shaped thorax, Thoracic dysplasia, Narrow ...	OMIM:615633
Pontocerebellar Hypoplasia, Type 4	Death in infancy, Respiratory failure	OMIM:225753
Congenital Muscular Dystrophy, Ullrich Type	Spinal rigidity, Short neck, Kyphosis, Respiratory failure, Scoliosis	ORPHA:75840
Acromesomelic Dysplasia 1	Lumbar hyperlordosis, Ovoid vertebral bodies, Thoracolumbar interpediculate narrowness, Thoracolu...	OMIM:602875
Renal Hypodysplasia/Aplasia 4	Respiratory failure	OMIM:619887
Intermediate Nemaline Myopathy	Abnormal thorax morphology, Respiratory failure	ORPHA:171433
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2	Spinal dysraphism, Irregular vertebral endplates, Posterior scalloping of vertebral bodies, Scoli...	OMIM:603546
Multiple Pterygium Syndrome, Escobar Variant	Neonatal respiratory distress, Long clavicles, Down-sloping shoulders, Thoracolumbar scoliosis, S...	OMIM:265000
Acropectorovertebral Dysplasia	Spina bifida occulta at L5, Abnormal thorax morphology, Abnormal vertebral morphology, Spina bifi...	OMIM:102510
Becker Nevus Syndrome	Pectus excavatum, Cervical ribs, Hemivertebrae, Scoliosis	OMIM:604919
Proximal 16P11.2 Microdeletion Syndrome	Rib fusion, Abnormal vertebral morphology, Scoliosis	ORPHA:261197
Ceroid Lipofuscinosis, Neuronal, 10	Neonatal death, Respiratory failure, Apnea, Respiratory insufficiency	OMIM:610127
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Lumbar hyperlordosis, Kyphoscoliosis, Platyspondyly, Thoracic kyphosis, Biconcave vertebral bodie...	OMIM:271510
Radio-Renal Syndrome	Respiratory distress, Short neck, Dyspnea, Abnormal rib morphology, Abnormal form of the vertebra...	ORPHA:3015
Hereditary Motor And Sensory Neuropathy, Type Iic	Down-sloping shoulders, Stridor, Respiratory failure, Scoliosis, Intercostal muscle weakness	OMIM:606071
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Death in infancy, Respiratory failure, Apnea	OMIM:616277
Combined Oxidative Phosphorylation Deficiency 51	Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia	OMIM:619057
Lethal Congenital Contracture Syndrome 1	Skeletal muscle atrophy, Hypoplasia of the musculature, Abnormal thorax morphology, Neonatal deat...	OMIM:253310
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Vertebral segmentation defect, Abnormal rib morphology, Short neck	ORPHA:2578
Infant Acute Respiratory Distress Syndrome	Pneumonia, Abnormal thorax morphology, Tachypnea, Nasal flaring, Hypoxemia, Respiratory failure	ORPHA:70587
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Vertebral fusion, Hyperlordosis, Kyphosis, Restrictive ventilatory defect, Respiratory failure, S...	OMIM:606612
Laryngotracheoesophageal Cleft Type 4	Abnormal rib morphology, Respiratory insufficiency, Abnormal form of the vertebral bodies	ORPHA:93941
Congenital Myopathy 21 With Early Respiratory Failure	Dyspnea, Respiratory failure, Nocturnal hypoventilation, Spinal rigidity	OMIM:620326
Axial Spondylometaphyseal Dysplasia	Aplasia/Hypoplasia of the ribs, Thoracic scoliosis, Neonatal respiratory distress, Aplasia/Hypopl...	ORPHA:168549
Mucolipidosis Ii Alpha/Beta	Hypoplastic scapulae, Thoracolumbar kyphoscoliosis, Ovoid vertebral bodies, Pectus excavatum, Mye...	OMIM:252500
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Neuropathic spinal arthropathy, Spinal rigidity, Respiratory insufficiency due to muscle weakness...	ORPHA:352447
Microphthalmia, Syndromic 3	Vertebral fusion, Missing ribs, Rib fusion, Hemivertebrae, Supernumerary ribs, Butterfly vertebra...	OMIM:206900
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Central apnea, Sacral dimple, Respiratory insufficiency due to muscle weakness, Kyphosis, Respira...	OMIM:618291
Combined Oxidative Phosphorylation Deficiency 28	Respiratory failure	OMIM:616794
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Respiratory distress, Central apnea, Lumbar hyperlordosis, Kyphosis, Respiratory failure, Platysp...	OMIM:616482
Hernia, Anterior Diaphragmatic	Neonatal death, Congenital diaphragmatic hernia	OMIM:306950
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Death in infancy, Neonatal respiratory distress, Respiratory insufficiency, Respiratory failure, ...	OMIM:245400
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal clavicle morphology, Hyperlordosis, Pectus excavatum, Short neck, Kyphosis, Abnormal rib...	ORPHA:2522
Jeune Syndrome	Abnormal clavicle morphology, Short thorax, Abnormal rib morphology, Respiratory insufficiency, A...	ORPHA:474
Mucopolysaccharidosis, Type Iva	Ovoid vertebral bodies, Short neck, Hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, ...	OMIM:253000
Oculopharyngeal Myopathy With Leukoencephalopathy 1	Respiratory failure	OMIM:618637
Neuronal Intranuclear Inclusion Disease	Spina bifida occulta, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:2289
Septopreoptic Holoprosencephaly	Abnormal rib morphology, Abnormal vertebral morphology, Ethmoidal encephalocele	ORPHA:280195
Greenberg Dysplasia	Abnormally ossified vertebrae, Anterior rib punctate calcifications, Abnormal form of the vertebr...	ORPHA:1426
Myopathy, Myofibrillar, 9, With Early Respiratory Failure	Scapular winging, Respiratory failure, Reduced vital capacity, Nocturnal hypoventilation	OMIM:603689
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Short neck	ORPHA:2234
Asbestos Intoxication	Reduced vital capacity, Reduced forced vital capacity, Nonproductive cough, Dyspnea, Wheezing, La...	ORPHA:2302
Craniodiaphyseal Dysplasia	Abnormal rib morphology	ORPHA:1513
Arthrogryposis Multiplex Congenita 6	Neonatal death, Death in infancy, Respiratory failure, Death in childhood	OMIM:619334
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Abnormal clavicle morphology, Short neck, Abnormal rib morphology, Platyspondyly, Narrow chest	ORPHA:93267
Pneumocystosis	Respiratory failure requiring assisted ventilation, Nonproductive cough, Dyspnea, Respiratory ins...	ORPHA:723
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Sacral dimple, Asthma, Rib fusion	ORPHA:544488
Robinow Syndrome, Autosomal Recessive 1	Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, Thoracic hemivertebrae, Short neck...	OMIM:268310
Cog1-Cdg	Irregularity of vertebral bodies, Kyphoscoliosis, Short neck, Rib fusion, Posterior rib gap, Vert...	ORPHA:263508
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Barrel-shaped chest, Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Kyphosis, Shield chest, Ir...	OMIM:143095
Autosomal Recessive Robinow Syndrome	Death in infancy, Sacral dimple, Short neck, Pectus excavatum, Kyphosis, Rib fusion, Pectus carin...	ORPHA:1507
Pde4D Haploinsufficiency Syndrome	Irregular vertebral endplates, Caudal interpedicular narrowing	ORPHA:439822
Achondrogenesis Type 1B	Short neck, Short thorax, Abnormal rib morphology, Narrow chest, Umbilical hernia	ORPHA:93298
Alg1-Cdg	Kyphosis, Respiratory failure, Scoliosis	ORPHA:79327
Fibrodysplasia Ossificans Progressiva	Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Respiratory insuffi...	OMIM:135100
White Forelock With Malformations	Sprengel anomaly, Spina bifida occulta, Abnormal rib morphology	ORPHA:2475
Cooper-Jabs Syndrome	Missing ribs, Abnormal rib morphology, Respiratory insufficiency, Scoliosis, Umbilical hernia	ORPHA:1488
Osteogenesis Imperfecta, Type Xv	Platyspondyly, Scoliosis, Thin ribs	OMIM:615220
1P36 Deletion Syndrome	11 pairs of ribs, Kyphosis, Rib fusion, Spinal canal stenosis, Scoliosis, Bifid ribs	ORPHA:1606
Ciliary Dyskinesia, Primary, 5	Neonatal respiratory distress, Recurrent pneumonia, Bronchiectasis, Respiratory failure, Respirat...	OMIM:608647
Fibrochondrogenesis 2	Cupped ribs, Bell-shaped thorax, Platyspondyly, Short ribs, Thoracic hypoplasia	OMIM:614524
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Respiratory distress, Disc-like vertebral bodies, Ovoid vertebral bodies, Short neck, Thin ribs, ...	OMIM:151210
Thoracic Dysplasia-Hydrocephalus Syndrome	Respiratory failure, Narrow chest	ORPHA:1861
Mosaic Trisomy 14	Abnormal rib morphology, Narrow chest, Short neck	ORPHA:1703
Interstitial Pneumonitis, Desquamative, Familial	Respiratory distress, Respiratory failure, Tachypnea, Cough	OMIM:263000
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Death in infancy, Spina bifida, Abnormal rib morphology, Respiratory insufficiency, Vertebral seg...	ORPHA:1120
Fibrochondrogenesis	Hypoplastic scapulae, Short neck, Abnormal rib morphology, Respiratory insufficiency, Abnormal fo...	ORPHA:2021
Diastrophic Dysplasia	Abnormal clavicle morphology, Kyphosis, Abnormal rib morphology, Respiratory insufficiency, Abnor...	ORPHA:628
Proximal Spinal Muscular Atrophy	Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency due to muscle weakness,...	ORPHA:70
Acrodysostosis 1 With Or Without Hormone Resistance	Hypoplastic vertebral bodies, Narrow vertebral interpedicular distance, Spinal canal stenosis, Sc...	OMIM:101800
Surfactant Metabolism Dysfunction, Pulmonary, 1	Death in infancy, Neonatal respiratory distress, Apnea, Dyspnea, Tachypnea, Respiratory failure, ...	OMIM:265120
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies	Pectus excavatum, Hypoplastic distal segments of scapulae, Abnormal rib morphology	OMIM:602196
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Scoliosis, Sprenge...	ORPHA:2180
Hepatic Veno-Occlusive Disease	Respiratory failure	ORPHA:890
Staphylococcal Necrotizing Pneumonia	Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Acute inf...	ORPHA:36238
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Pectus excavatum, Large placenta, Respiratory failure, Prominent sternum, Coat hanger sign of rib...	ORPHA:254528
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Death in infancy, Neonatal respiratory distress, Nonspecific interstitial p...	OMIM:610921
Brachytelephalangic Chondrodysplasia Punctata	Central apnea, Respiratory failure requiring assisted ventilation, Neonatal respiratory distress,...	ORPHA:79345
Congenital Neuronal Ceroid Lipofuscinosis	Neonatal respiratory distress, Apnea, Respiratory failure	ORPHA:168486
Combined Oxidative Phosphorylation Deficiency 52	Death in infancy, Respiratory failure	OMIM:619386
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Lumbar hyperlordosis, Cupped ribs, Irregular vertebral endplates, Platyspondyly, Scoliosis, Beaki...	OMIM:609616
Avian Influenza	Respiratory distress, Miscarriage, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tac...	ORPHA:454836
Severe Congenital Nemaline Myopathy	Abnormal thorax morphology, Respiratory failure, Thin ribs	ORPHA:171430
Wolf-Hirschhorn Syndrome	Rib segmentation abnormalities, Sacral dimple, Kyphosis, Abnormal thorax morphology, Rib fusion, ...	ORPHA:280
Osteogenesis Imperfecta, Type Ii	Beaded ribs, Respiratory insufficiency, Thin ribs, Bell-shaped thorax, Platyspondyly, Thoracic hy...	OMIM:166210
Muscular Dystrophy, Duchenne Type	Hypoventilation, Hyperlordosis, Respiratory insufficiency due to muscle weakness, Restrictive ven...	OMIM:310200
Pallister-Hall Syndrome	Neonatal death, Rib fusion, Hemivertebrae	OMIM:146510
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Respiratory distress, Death in infancy, Tachypnea, Respiratory insufficiency, Respiratory failure	OMIM:614299
Central Hypoventilation Syndrome, Congenital, 3	Respiratory failure, Apnea, Central hypoventilation	OMIM:619483
Multiple Mitochondrial Dysfunctions Syndrome 3	Respiratory failure, Respiratory insufficiency	OMIM:615330
Mitochondrial Complex I Deficiency, Nuclear Type 18	Death in infancy, Respiratory failure	OMIM:618240
Klippel-Feil Syndrome 1, Autosomal Dominant	Short neck, Abnormal rib morphology, Scoliosis, Cervical C2/C3 vertebral fusion, Sprengel anomaly...	OMIM:118100
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force...	OMIM:610913
Congenital Myopathy 10B, Mild Variant	Hyperlordosis, Reduced forced vital capacity, Recurrent pneumonia, Respiratory failure, Scoliosis	OMIM:620249
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Neonatal respiratory distress, Respiratory failure	OMIM:616867
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Respiratory distress, Death in infancy, Thoracic scoliosis, Respiratory failure, Chylothorax, Dea...	OMIM:620278
Lethal Congenital Contracture Syndrome Type 1	Abnormal rib morphology, Abnormal form of the vertebral bodies, Short neck	ORPHA:1486
Hypophosphatasia	Emphysema, Abnormal rib morphology, Narrow chest, Respiratory insufficiency	ORPHA:436
Pyruvate Dehydrogenase E1-Alpha Deficiency	Respiratory failure, Apneic episodes precipitated by illness, fatigue, stress	OMIM:312170
Sacral Agenesis With Vertebral Anomalies	Absence of the sacrum, Vertebral clefting, Abnormal vertebral morphology	OMIM:615709
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Respiratory failure	OMIM:613435
Mesomelic Dysplasia, Kantaputra Type	Vertebral segmentation defect, Abnormal rib morphology	ORPHA:1836
Robinow Syndrome	Fused thoracic vertebrae, Kyphoscoliosis, Missing ribs, Rib fusion, Hemivertebrae, Scoliosis, Umb...	ORPHA:97360
Aspergillosis	Sinusitis, Pneumonia, Dyspnea, Asthma, Chronic pulmonary obstruction, Abnormal rib morphology, Br...	ORPHA:1163
Multiple Mitochondrial Dysfunctions Syndrome 1	Death in infancy, Respiratory insufficiency, Respiratory failure, Neonatal death, Pulmonary arter...	OMIM:605711
10Q22.3Q23.3 Microduplication Syndrome	Abnormal clavicle morphology, Abnormal rib morphology	ORPHA:276422
Chromosome 1P36 Deletion Syndrome, Distal	11 pairs of ribs, Scoliosis, Rib fusion, Bifid ribs	OMIM:607872
Neuropathy, Congenital Hypomyelinating, 3	Neonatal death, Respiratory failure, Respiratory insufficiency	OMIM:618186
Achondrogenesis, Type Ia	Barrel-shaped chest, Hypoplastic scapulae, Hypoplastic sacrum, Beaded ribs, Short neck, Short tho...	OMIM:200600
Leigh Syndrome	Respiratory failure, Abnormal pattern of respiration, Respiratory insufficiency	OMIM:256000
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome	Hyperlordosis, Short neck, Short thorax, Abnormal form of the vertebral bodies, Umbilical hernia	ORPHA:3218
Mucopolysaccharidosis, Type X	Spatulate ribs, Hyperlordosis, Broad clavicles, Platyspondyly, Posterior scalloping of vertebral ...	OMIM:619698
Multiple Acyl-Coa Dehydrogenase Deficiency	Scapular winging, Hyperlordosis, Dyspnea, Cardiorespiratory arrest, Restrictive ventilatory defec...	ORPHA:26791
Lymphangiectasia, Intestinal	Stillbirth, Prominent floating ribs	OMIM:152800
Neuromyelitis Optica Spectrum Disorder	Respiratory failure	ORPHA:71211
Femoral-Facial Syndrome	Missing ribs, Absent vertebra, Rib fusion, Hemivertebrae, Scoliosis, Sprengel anomaly, Dysplastic...	OMIM:134780
Holt-Oram Syndrome	Abnormal clavicle morphology, Down-sloping shoulders, Pectus excavatum, Kyphosis, Abnormal rib mo...	ORPHA:392
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Respiratory failure requiring assisted ventilation, Pectus excavatum, Recurrent pneumonia, Pectus...	ORPHA:496641
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Respiratory failure	ORPHA:70472
Pontocerebellar Hypoplasia Type 1	Respiratory failure, Congenital laryngeal stridor	ORPHA:2254
Acute Lung Injury	Respiratory distress, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure	ORPHA:178320
Acute Interstitial Pneumonia	Crackles, Nonproductive cough, Dyspnea, Tachypnea, Bronchiectasis, Hypoxemia, Respiratory failure...	ORPHA:79126
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	11 pairs of ribs, Death in infancy, Long clavicles, Shoulder flexion contracture, Short neck, Res...	OMIM:210710
Osteogenesis Imperfecta, Type X	Respiratory distress, Multiple rib fractures, Thoracic scoliosis, Chronic lung disease, Recurrent...	OMIM:613848
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Sprengel anomaly, Abnormality of the vertebral column, Abnormal rib morphology	OMIM:601076
Mucopolysaccharidosis, Type Iiia	Umbilical hernia, Thickened ribs, Ovoid thoracolumbar vertebrae, Scoliosis	OMIM:252900
Melnick-Needles Syndrome	Short thorax, Abnormal rib morphology, Respiratory insufficiency, Narrow chest, Short clavicles, ...	ORPHA:2484
Mayer-Rokitansky-Küster-Hauser Syndrome	Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Vertebral se...	ORPHA:3109
Combined Oxidative Phosphorylation Deficiency 11	Death in infancy, Respiratory failure, Stillbirth, Death in childhood, Neonatal death	OMIM:614922
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Respiratory failure, Scoliosis	OMIM:616505
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Respiratory distress, Long clavicles, Cleft vertebral arch, Thin ribs, Fused cervical vertebrae	ORPHA:83617
Achondrogenesis, Type Ii	Barrel-shaped chest, Absent vertebral body mineralization, Stillbirth, Short ribs, Horizontal ribs	OMIM:200610
Spondyloepimetaphyseal Dysplasia, Irapa Type	Platyspondyly, Abnormal rib morphology, Pectus carinatum	ORPHA:93351
Grant Syndrome	Sprengel anomaly, Abnormality of the glenoid fossa, Abnormal rib morphology, Narrow chest	ORPHA:2097
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Respiratory failure, Tachypnea, Inspiratory stridor, Ventilator dependence with inability to wean	OMIM:604320
Tibial Muscular Dystrophy	Respiratory failure	ORPHA:609
Phaver Syndrome	Myelomeningocele, Abnormal rib morphology, Butterfly vertebrae, Abnormal form of the vertebral bo...	ORPHA:2876
Mucopolysaccharidosis Type 4	Hyperlordosis, Short neck, Kyphosis, Short thorax, Abnormal rib morphology, Spinal canal stenosis...	ORPHA:582
Zttk Syndrome	Kyphosis, Rib fusion, Hemivertebrae, Cervical ribs, Scoliosis	OMIM:617140
Adult Acute Respiratory Distress Syndrome	Pneumonia, Dyspnea, Hypoxemia, Respiratory failure, Abnormal blood gas level	ORPHA:70578
Thin Ribs-Tubular Bones-Dysmorphism Syndrome	Abnormal rib morphology	ORPHA:1506
Immunodeficiency 54	Respiratory failure, Respiratory insufficiency	OMIM:609981
Joubert Syndrome 21	Encephalocele, Occipital encephalocele, Apnea, Dyspnea, Bell-shaped thorax, Respiratory failure, ...	OMIM:615636
Mucopolysaccharidosis, Type Ivb	Ovoid vertebral bodies, Hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Cervical mye...	OMIM:253010
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Myelopathy, Cervical myelopathy, Respiratory failure, Bradypnea, Death in childhood	OMIM:617186
Triosephosphate Isomerase Deficiency	Respiratory distress, Death in infancy, Respiratory insufficiency due to muscle weakness, Kyphosi...	OMIM:615512
Juberg-Hayward Syndrome	Abnormal rib morphology, Abnormal vertebral morphology, Scoliosis	ORPHA:2319
Mitochondrial Complex I Deficiency, Nuclear Type 10	Respiratory failure, Apnea, Central hypoventilation	OMIM:618233
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Respiratory failure, Tachypnea, Death in childhood	OMIM:615838
Scedosporiosis	Bronchial breath sound, Sinusitis, Pneumonia, Abnormal respiratory system physiology, Respiratory...	ORPHA:449280
Idiopathic Pulmonary Hemosiderosis	Crackles, Dyspnea, Restrictive ventilatory defect, Respiratory failure, Cough	ORPHA:99931
Alagille Syndrome 1	Abnormal rib morphology, Hemivertebrae, Butterfly vertebral arch	OMIM:118450
Osteogenesis Imperfecta, Type Xviii	Umbilical hernia, Vertebral compression fracture, Biconcave vertebral bodies, Thin ribs	OMIM:617952
Congenital Fiber-Type Disproportion Myopathy	Hypercapnia, Hyperlordosis, Pectus excavatum, Respiratory insufficiency due to muscle weakness, K...	ORPHA:2020
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Respiratory failure	OMIM:613954
Sandestig-Stefanova Syndrome	Respiratory failure, Short neck	OMIM:618804
Cat-Eye Syndrome	Abnormal rib morphology	ORPHA:195
Combined Oxidative Phosphorylation Deficiency 4	Death in infancy, Respiratory failure	OMIM:610678
Congenital Multicore Myopathy With External Ophthalmoplegia	Abnormal respiratory system physiology, Respiratory failure, Pneumonia, Scoliosis	ORPHA:98905
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Hypoventilation, Hyperlordosis, Respiratory insufficiency, Pulmonary arterial hypertension, Respi...	ORPHA:258
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Short neck, Hemivertebrae, Narrow chest, Abnormality of the costochondral junction, Restrictive v...	ORPHA:96334
Severe Neurodegenerative Syndrome With Lipodystrophy	Respiratory failure	ORPHA:363400
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Kyphosis, Abnormal rib morphology, Short neck, Pectus carinatum	ORPHA:3082
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Death in infancy, Respiratory failure	ORPHA:1194
Wolf-Hirschhorn Syndrome	Rib segmentation abnormalities, Vertebral fusion, Sacral dimple, Kyphosis, Rib fusion, Abnormal f...	OMIM:194190
Prune Belly Syndrome	Pectus excavatum, Vertebral segmentation defect, Abnormal rib morphology, Scoliosis	ORPHA:2970
Spondylometaphyseal Dysplasia, Sedaghatian Type	Abnormal scapula morphology, Abnormal rib morphology, Cardiorespiratory arrest, Respiratory insuf...	ORPHA:93317
Greenberg Dysplasia	Beaded ribs, Hypoplastic vertebral bodies, Narrow chest, Absent or minimally ossified vertebral b...	OMIM:215140
Spinocerebellar Ataxia Type 1	Respiratory failure	ORPHA:98755
Microcephalic Primordial Dwarfism, Toriello Type	Abnormal rib morphology	ORPHA:2643
Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:97330
Peripartum Cardiomyopathy	Orthopnea, Crackles, Dyspnea, Asthma, Respiratory failure, Paroxysmal dyspnea, Pulmonary arterial...	ORPHA:563
Primary Ciliary Dyskinesia	Neonatal respiratory distress, Productive cough, Wheezing, Bronchiectasis, Respiratory failure, C...	ORPHA:244
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Neonatal respiratory distress, Posterior rib fusion, Neonatal death, Pulmonary arterial hypertens...	OMIM:265380
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Respiratory distress, Abnormal rib morphology, Pulmonary arterial hypertension, Abnormal sternum ...	ORPHA:2519
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Restrictive ventilatory defect, Respiratory failure, Interstitial pneumonitis	OMIM:620296
Cerebrocostomandibular Syndrome	Death in infancy, Neonatal respiratory distress, Spina bifida, Tracheomalacia, Kyphosis, Myelomen...	ORPHA:1393
Axial Mesodermal Dysplasia Spectrum	Short neck, Missing ribs, Abnormal rib morphology, Abnormal form of the vertebral bodies, Vertebr...	ORPHA:1834
Snakebite Envenomation	Respiratory failure, Respiratory paralysis, Epistaxis	ORPHA:449285
Muscular Dystrophy, Congenital, With Or Without Seizures	Respiratory distress, Respiratory failure	OMIM:620166
Cole-Carpenter Syndrome	Kyphosis, Scoliosis, Abnormal rib morphology, Abnormal form of the vertebral bodies	ORPHA:2050
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Lumbar hyperlordosis, Kyphoscoliosis, Rib fusion, Hemivertebrae, Respiratory failure, Cervical ri...	ORPHA:500150
Osteogenesis Imperfecta, Type Xvi	Multiple rib fractures, Beaded ribs, Platyspondyly, Narrow chest, Vertebral compression fracture	OMIM:616229
Combined Oxidative Phosphorylation Defect Type 23	Stridor, Respiratory failure, Paroxysmal dyspnea	ORPHA:444013
Renpenning Syndrome	Pectus excavatum, Sprengel anomaly, Abnormal rib morphology	ORPHA:3242
Campomelia, Cumming Type	Abnormally ossified vertebrae, Death in infancy, Abnormal thorax morphology, Abnormal rib morphology	ORPHA:1318
Cardiospondylocarpofacial Syndrome	Fused cervical vertebrae, Rib fusion, Herniation of intervertebral nuclei, Scoliosis	OMIM:157800
Amyotrophic Lateral Sclerosis	Dyspnea, Respiratory failure, Abnormal respiratory system physiology	ORPHA:803
Nephronophthisis 2	Respiratory failure, Respiratory insufficiency	OMIM:602088
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Respiratory distress, Respiratory insufficiency due to muscle weakness, Respiratory failure, Deat...	OMIM:220110
Baller-Gerold Syndrome	Spina bifida occulta, Rib fusion, Abnormal vertebral morphology, Scoliosis	OMIM:218600
Otopalatodigital Syndrome, Type Ii	Spina bifida, Short neck, Pectus excavatum, Kyphoscoliosis, Respiratory insufficiency, Respirator...	OMIM:304120
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Skeletal muscle atrophy, Facial palsy, Hyperlordosis, Abnormal muscle fiber morphology, Abnormal ...	ORPHA:3068
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Abnormally ossified vertebrae, Abnormal rib morphology	ORPHA:3035
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Abnormal rib morphology	ORPHA:2772
Niemann-Pick Disease, Type C2	Death in infancy, Neonatal respiratory distress, Respiratory insufficiency, Respiratory failure, ...	OMIM:607625
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Death in infancy, Neonatal respiratory distress, Apnea, Respiratory insufficiency, Respiratory fa...	OMIM:608836
Cartilage-Hair Hypoplasia	Abnormally ossified vertebrae, Biconvex vertebral bodies, Sacral dimple, Flaring of lower rib cag...	ORPHA:175
Mercury Poisoning	Respiratory distress, Dyspnea, Respiratory failure, Interstitial pneumonitis	ORPHA:330021
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Respiratory failure, Death in childhood	OMIM:619847
Oculocerebrofacial Syndrome, Kaufman Type	Respiratory distress, Dyspnea, Respiratory failure	ORPHA:2707
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Pulmonary arterial hypertension, Respiratory failure, Respiratory insufficiency	OMIM:613845
Car T Cell Therapy-Associated Cytokine Release Syndrome	Hypoxemia, Pleural effusion, Tachypnea, Respiratory failure	ORPHA:542323
Cleidocranial Dysplasia	Hypoplastic scapulae, Sinusitis, Down-sloping shoulders, Abnormal sacrum morphology, Abnormal rib...	ORPHA:1452
Peroxisome Biogenesis Disorder 4A (Zellweger)	Death in infancy, Respiratory failure	OMIM:614862
Ulbright-Hodes Syndrome	Respiratory distress, Short neck, Pneumothorax, Abnormal rib morphology, Ovoid thoracolumbar vert...	ORPHA:3404
Fraser Syndrome 2	Respiratory failure, Short thorax, Short neck	OMIM:617666
Deafness-Lymphedema-Leukemia Syndrome	Respiratory failure	ORPHA:3226
Poland Syndrome	Encephalocele, Aplasia/Hypoplasia of the sternum, Missing ribs, Short neck, Kyphosis, Abnormal ri...	ORPHA:2911
Lethal Congenital Contracture Syndrome 2	Respiratory failure	OMIM:607598
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Pectus excavatum, Tachypnea, Respiratory insufficiency, Respiratory failure, Death in childhood	OMIM:618278
Craniosynostosis, Herrmann-Opitz Type	Abnormal rib morphology	ORPHA:2145
Trisomy 13	Kyphosis, Abnormal rib morphology, Narrow chest, Scoliosis	ORPHA:3378
Vacterl/Vater Association	Occipital encephalocele, Abnormal intervertebral disk morphology, Abnormal sacrum morphology, Ane...	ORPHA:887
Holzgreve Syndrome	Abnormally ossified vertebrae, Abnormal rib morphology	ORPHA:2167
Pallister-Hall Syndrome	Umbilical hernia, Rib fusion, Hemivertebrae, Respiratory insufficiency	ORPHA:672
Boutonneuse Fever	Respiratory failure	ORPHA:83313
Pulmonary Alveolar Microlithiasis	Increased pulmonary vascular resistance, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, B...	ORPHA:60025
Schwartz-Jampel Syndrome	Death in infancy, Abnormally ossified vertebrae, Apnea, Shoulder flexion contracture, Hyperlordos...	ORPHA:800
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory insufficien...	ORPHA:308552
Rajab Interstitial Lung Disease With Brain Calcifications 1	Pectus excavatum, Tachypnea, Respiratory insufficiency, Respiratory failure, Scoliosis, Cough, Em...	OMIM:613658
Hurler Syndrome	Abnormal clavicle morphology, Death in infancy, Short neck, Abnormal rib morphology, Spinal canal...	ORPHA:93473
Familial Osteodysplasia, Anderson Type	Aplastic clavicle, Missing ribs, Kyphosis, Abnormal rib morphology, Abnormal form of the vertebra...	ORPHA:2769
Mitochondrial Trifunctional Protein Deficiency 1	Respiratory failure, Respiratory insufficiency	OMIM:609015
Cenani-Lenz Syndrome	Scoliosis, Abnormal rib morphology, Abnormal form of the vertebral bodies	ORPHA:3258
Arterial Tortuosity Syndrome	Respiratory distress, Dyspnea, Cardiorespiratory arrest, Respiratory failure, Scoliosis	ORPHA:3342
Ear-Patella-Short Stature Syndrome	Respiratory distress, Aplastic clavicle, Dyspnea, Abnormal rib morphology, Respiratory failure	ORPHA:2554
Osteogenesis Imperfecta, Type Viii	Barrel-shaped chest, Kyphosis, Thin ribs, Platyspondyly, Scoliosis, Vertebral compression fracture	OMIM:610915
3-Methylglutaconic Aciduria Type 7	Respiratory failure, Pneumothorax	ORPHA:445038
Multiple Pterygium-Malignant Hyperthermia Syndrome	Pectus excavatum, Dyspnea, Kyphosis, Abnormal rib morphology, Scoliosis	ORPHA:2215
Glycogen Storage Disease Due To Acid Maltase Deficiency	Respiratory distress, Orthopnea, Hyperlordosis, Respiratory insufficiency due to muscle weakness,...	ORPHA:365
Infantile Krabbe Disease	Respiratory distress, Respiratory failure	ORPHA:206436
Brain-Lung-Thyroid Syndrome	Respiratory distress, Neonatal respiratory distress, Asthma, Recurrent pneumonia, Respiratory fai...	ORPHA:209905
Combined Oxidative Phosphorylation Deficiency 3	Death in infancy, Dyspnea, Respiratory insufficiency, Respiratory failure, Death in childhood	OMIM:610505
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Death in infancy, Respiratory failure, Thoracic hypoplasia, Short neck	OMIM:300868
Tetraamelia-Multiple Malformations Syndrome	Abnormally ossified vertebrae, Abnormal rib morphology, Missing ribs	ORPHA:3301
Mosaic Trisomy 8	Short neck, Abnormal rib morphology, Vertebral segmentation defect, Narrow chest, Scoliosis	ORPHA:96061
3-Methylglutaconic Aciduria, Type Viii	Death in infancy, Apnea, Hypopnea, Respiratory failure, Neonatal death, Respiratory arrest	OMIM:617248
Glycine Encephalopathy With Normal Serum Glycine	Respiratory failure, Apnea	OMIM:617301
Mitochondrial Trifunctional Protein Deficiency	Respiratory failure, Respiratory insufficiency	ORPHA:746
S-Adenosylhomocysteine Hydrolase Deficiency	Respiratory failure	ORPHA:88618
Pelizaeus-Merzbacher Disease, Connatal Form	Respiratory failure	ORPHA:280210
Monosomy 9Q22.3	Short neck, Pectus excavatum, Kyphosis, Abnormal rib morphology, Abnormality of the vertebral col...	ORPHA:77301
Costello Syndrome	Barrel-shaped chest, Short neck, Pneumothorax, Respiratory insufficiency, Pectus carinatum, Respi...	OMIM:218040
Combined Oxidative Phosphorylation Deficiency 37	Respiratory failure, Respiratory insufficiency	OMIM:618329
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Abnormally ossified vertebrae, Abnormal intervertebral disk morphology, Aplastic clavicle, Short ...	ORPHA:2636
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Respiratory failure	OMIM:620327
Mitochondrial Complex I Deficiency, Nuclear Type 32	Respiratory failure, Patent urachus, Death in childhood	OMIM:618252
Congenital Tricuspid Valve Dysplasia	Hypoxemia, Respiratory failure requiring assisted ventilation, Respiratory failure, Tachypnea	ORPHA:555874
Leigh Syndrome	Respiratory failure, Abnormal pattern of respiration	ORPHA:506
Riddle Syndrome	Pneumonia, Neonatal asphyxia, Recurrent pneumonia, Restrictive ventilatory defect, Respiratory fa...	ORPHA:420741
Osteopetrosis, Autosomal Recessive 5	Respiratory failure, Stillbirth	OMIM:259720
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Respiratory failure	ORPHA:3240
Poliomyelitis	Respiratory failure requiring assisted ventilation, Respiratory failure	ORPHA:2912
Hemorrhagic Fever-Renal Syndrome	Respiratory distress, Back pain, Pneumonia, Epistaxis, Dyspnea, Respiratory failure, Cough, Pleur...	ORPHA:340
Geleophysic Dysplasia 3	Dyspnea, Respiratory failure, Pneumonia	OMIM:617809
Listeriosis	Respiratory distress, Back pain, Miscarriage, Pneumonia, Respiratory failure	ORPHA:533
Pyknoachondrogenesis	Short thorax, Poorly ossified vertebrae, Enlarged thorax, Unossified sacrum, Short ribs, Horizont...	ORPHA:3003
Otopalatodigital Syndrome Type 2	Encephalocele, Myelomeningocele, Abnormal rib morphology, Narrow chest, Scoliosis, Abnormal verte...	ORPHA:90652
Oculocerebrocutaneous Syndrome	Abnormal rib morphology, Missing ribs	ORPHA:1647
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Respiratory failure	OMIM:616538
Mitochondrial Complex I Deficiency, Nuclear Type 1	Death in infancy, Respiratory failure, Apnea, Respiratory insufficiency	OMIM:252010
Camptodactyly Syndrome, Guadalajara Type 3	Spina bifida occulta, Abnormal rib morphology, Short neck	ORPHA:488434
Nocardiosis	Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Pneumothorax, Pl...	ORPHA:31204
Autosomal Dominant Popliteal Pterygium Syndrome	Abnormal rib morphology, Scoliosis	ORPHA:1300
Malignant Atrophic Papulosis	Pleural effusion, Respiratory failure	ORPHA:679
Antley-Bixler Syndrome	Abnormal rib morphology, Narrow chest	ORPHA:83
Abetalipoproteinemia	Respiratory failure, Kyphoscoliosis	ORPHA:14
Trisomy 1Q	Short thorax, Abnormal rib morphology	ORPHA:261344
Bickerstaff Brainstem Encephalitis	Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Dyspnea, Respiratory ...	ORPHA:79138
Bloom Syndrome	Rhinitis, Chronic pulmonary obstruction, Pneumonia, Respiratory failure	ORPHA:125
Lethal Acantholytic Erosive Disorder	Respiratory failure	ORPHA:158687
Nijmegen Breakage Syndrome	Respiratory failure, Recurrent pneumonia, Short neck	ORPHA:647
Pagod Syndrome	Encephalocele, Abnormal clavicle morphology, Death in infancy, Spina bifida, Meningocele, Abnorma...	ORPHA:991
Fibrous Dysplasia Of Bone	Abnormal clavicle morphology, Abnormal rib morphology, Abnormal lumbar spine morphology, Scoliosi...	ORPHA:249
Mucopolysaccharidosis Type 3	Abnormal clavicle morphology, Abnormal rib morphology, Upper airway obstruction, Abnormal form of...	ORPHA:581
Simpson-Golabi-Behmel Syndrome	Death in infancy, Vertebral fusion, Short neck, Pectus excavatum, Abnormal rib morphology, Verteb...	ORPHA:373
Microphthalmia With Linear Skin Defects Syndrome	Respiratory distress, Dyspnea, Respiratory failure, Sacral dimple	ORPHA:2556
Severe Generalized Junctional Epidermolysis Bullosa	Respiratory distress, Pneumonia, Dyspnea, Pneumothorax, Stridor, Respiratory failure	ORPHA:79404
Vater/Vacterl Association	Occipital encephalocele, Spina bifida, Abnormal rib morphology, Abnormal sternum morphology, Pate...	OMIM:192350
Steinert Myotonic Dystrophy	Respiratory insufficiency due to muscle weakness, Respiratory failure requiring assisted ventilat...	ORPHA:273
Myhre Syndrome	Platyspondyly, Abnormal rib morphology	ORPHA:2588
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Hypoplastic scapulae, Abnormal rib morphology, Stillbirth, Narrow chest, Scoliosis, Abnormal vert...	ORPHA:95699
Trisomy 18	Anencephaly, Abnormal rib morphology, Spina bifida	ORPHA:3380
Monosomy 9P	Abnormality of the vertebral column, Abnormal rib morphology, Scoliosis, Short neck	ORPHA:261112
Dextrocardia	Abnormal rib morphology	ORPHA:1666
Oculocerebrorenal Syndrome Of Lowe	Death in infancy, Kyphosis, Abnormal rib morphology, Respiratory insufficiency, Platyspondyly, Sc...	ORPHA:534
Autosomal Recessive Polycystic Kidney Disease	Hypoventilation, Respiratory failure, Recurrent pneumonia, Spontaneous pneumothorax	ORPHA:731
Niemann-Pick Disease Type C	Respiratory failure, Respiratory insufficiency, Aspiration pneumonia	ORPHA:646
Tuberous Sclerosis Complex	Respiratory distress, Respiratory failure	ORPHA:805
Autosomal Recessive Malignant Osteopetrosis	Apnea, Abnormal rib morphology, Narrow chest, Chronic rhinitis, Pulmonary arterial hypertension	ORPHA:667
Smith-Lemli-Opitz Syndrome	Short neck, Kyphosis, Abnormal rib morphology, Abnormal form of the vertebral bodies, Scoliosis	ORPHA:818
Charge Syndrome	Scoliosis, Abnormal rib morphology, Hemivertebrae, Respiratory insufficiency	ORPHA:138
Hereditary Acrokeratotic Poikiloderma	Abnormal rib morphology	ORPHA:2907
Kindler Epidermolysis Bullosa	Abnormal rib morphology	ORPHA:2908
Charge Syndrome	Down-sloping shoulders, Abnormal rib morphology, Hemivertebrae, Scoliosis, Umbilical hernia	OMIM:214800
Townes-Brocks Syndrome	Abnormal rib morphology, Abnormal vertebral morphology	ORPHA:857

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 Ripply2

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 Ripply2.

No publications found that use IMPC mice or data for Ripply2.

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
Ripply2^tm1(KOMP)Mbp	Reporter-tagged deletion allele (with selection cassette)	Targeting vectors, ES Cells
Ripply2^{tm458324(L1L2_GT0_LF2A_LacZ_BetactP_neo)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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