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Gene: Dscc1 MGI:1919357

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Gene Summary

Name:
DNA replication and sister chromatid cohesion 1
Synonyms:
2600005O03Rik,  2010006I05Rik

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased lean body mass Dscc1tm1a(KOMP)Wtsi HET Early adult 1.97×10-07
increased bone mineral content Dscc1tm1a(KOMP)Wtsi HET Early adult 5.61×10-05
decreased circulating HDL cholesterol level Dscc1tm1a(KOMP)Wtsi HET Early adult 6.51×10-05
increased blood urea nitrogen level Dscc1tm1a(KOMP)Wtsi HOM Early adult 1.70×10-09
decreased circulating cholesterol level Dscc1tm1a(KOMP)Wtsi HET Early adult 5.56×10-06
increased bone mineral density Dscc1tm1a(KOMP)Wtsi HET Early adult 2.86×10-05
abnormal behavior Dscc1tm1a(KOMP)Wtsi HET Early adult 2.14×10-05
abnormal behavior Dscc1tm1a(KOMP)Wtsi HOM Early adult 4.00×10-05
increased lumbar vertebrae number Dscc1tm1a(KOMP)Wtsi HOM Early adult 1.89×10-06
vertebral fusion Dscc1tm1a(KOMP)Wtsi HOM Early adult 3.12×10-05
decreased circulating LDL cholesterol level Dscc1tm1a(KOMP)Wtsi HET Early adult 4.44×10-05
abnormal rib morphology Dscc1tm1a(KOMP)Wtsi HOM Early adult 9.18×10-05
preweaning lethality, incomplete penetrance Dscc1tm1a(KOMP)Wtsi HOM   Early adult 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote Not available
Blood vessel N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote Not available
Ovary N/A heterozygote Not available
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle tissue N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote Not available
Testis N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
blood vessel
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
oesophagus
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyer's patch
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle tissue
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Histopathology

Images

8 Images

View images
Legacy Phenotype Associated Images
Dscc1tm1a(KOMP)Wtsi
body, HOM, Male, WTSI
Dscc1tm1a(KOMP)Wtsi
body, HOM, Male, WTSI
Dscc1tm1a(KOMP)Wtsi
forearm, HOM, Male, WTSI
Dscc1tm1a(KOMP)Wtsi
HET, Female, WTSI
Dscc1tm1a(KOMP)Wtsi
HET, Female, WTSI

View all 187 images

Dscc1tm1a(KOMP)Wtsi
WT, Female, WTSI
Dscc1tm1a(KOMP)Wtsi
WT, Female, WTSI
Dscc1tm1a(KOMP)Wtsi
WT, Female, WTSI
Dscc1tm1a(KOMP)Wtsi
WT, Female, WTSI
Dscc1tm1a(KOMP)Wtsi
WT, Female, WTSI

View all 8 images

Dscc1tm1a(KOMP)Wtsi
eye, abnormal retinal blood vessel pattern, HOM, Female, WTSI
Dscc1tm1a(KOMP)Wtsi
eye, impaired pupillary reflex, abnormal pupil morphology, abnormal placement of pupils, HOM, Male, WTSI
Dscc1tm1a(KOMP)Wtsi
eye, abnormal retinal blood vessel pattern, HOM, Male, WTSI
Dscc1tm1a(KOMP)Wtsi
back skin, HOM, Female, WTSI
Dscc1tm1a(KOMP)Wtsi
back skin, HOM, Female, WTSI
Dscc1tm1a(KOMP)Wtsi
back skin, HOM, Female, WTSI

Human diseases caused by Dscc1 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 Dscc1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased HDL cholesterol concentration, Hypocholesterolemia, Decreased circulating apolipoprotei... OMIM:620058
Spondylocostal Dysostosis 5
Butterfly vertebrae, Pectus carinatum, Scoliosis, Hemivertebrae, Missing ribs, Supernumerary ribs... OMIM:122600
Cervical Rib
Cervical ribs OMIM:117900
Spondylocostal Dysostosis 1, Autosomal Recessive
Kyphoscoliosis, Abnormal odontoid process morphology, Hemivertebrae, Vertebral segmentation defec... OMIM:277300
Diaphanospondylodysostosis
Absent or minimally ossified vertebral bodies, Short thorax, Enlarged thorax, Missing ribs, Short... ORPHA:66637
Microcephaly With Cervical Spine Fusion Anomalies
Spinal instability, Vertebral fusion OMIM:251250
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Sacral dimple, Posterior fusion of lumbosacral vertebrae, Tarsal synostosis, Abnormal form of the... ORPHA:2064
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae OMIM:192800
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Pectus carinatum, Scoliosis, Abnormal rib morphology, Delayed skeletal maturation, Radioulnar syn... ORPHA:3268
Osteosclerotic Metaphyseal Dysplasia
Increased bone mineral density, Failure to thrive, Clavicular sclerosis OMIM:615198
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Buschke-Ollendorff Syndrome
Joint stiffness, Flexion contracture, Osteopoikilosis OMIM:166700
Hypophosphatemic Rickets, Autosomal Recessive, 1
Rickets, Hypophosphatemic rickets, Increased bone mineral density, Hypophosphatemia, Craniosynost... OMIM:241520
Klippel-Feil Syndrome 3, Autosomal Dominant
Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion, Thoracic scoliosis OMIM:613702
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemi... ORPHA:79506
Ossification Of The Posterior Longitudinal Ligament Of Spine
Increased bone mineral density, Ectopic ossification OMIM:602475
Multiple Synostoses Syndrome 2
Finger symphalangism, Tarsal synostosis, Proximal symphalangism, Humeroradial synostosis, Carpal ... OMIM:610017
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Pancreatic Lipase Deficiency
Steatorrhea, Hypocholesterolemia OMIM:614338
Chylomicron Retention Disease
Steatorrhea, Hypotriglyceridemia, Failure to thrive, Decreased LDL cholesterol concentration, Hyp... OMIM:246700
Spondylocostal Dysostosis 2, Autosomal Recessive
Hemivertebrae, Vertebral segmentation defect, Vertebral clefting, Rib fusion, Short neck OMIM:608681
Osteomesopyknosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Isolated Klippel-Feil Syndrome
Abnormal shoulder morphology, Cervical C2/C3 vertebral fusion, Abnormality of the vertebral colum... ORPHA:2345
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Dentin Dysplasia
Increased bone mineral density ORPHA:1653
Spondylocostal Dysostosis 3, Autosomal Recessive
Supernumerary vertebral ossification centers, Scoliosis, Vertebral segmentation defect, Kyphosis,... OMIM:609813
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Osteopenia, Hypocholesterolemia OMIM:610539
Melorheostosis With Osteopoikilosis
Abnormal cortical bone morphology, Osteopoikilosis ORPHA:1879
Spondylocostal Dysostosis 4, Autosomal Recessive
Abnormal odontoid process morphology, Bell-shaped thorax, Spina bifida occulta, Short thorax, Sco... OMIM:613686
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Hypervalinemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitrogen, Hyperammonemia OMIM:620085
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Tarsal synostosis, Fused cervical vertebrae, Scoliosis, Antecubital pterygium, Flexion contractur... OMIM:618469
Kyphomelic Dysplasia
Lateral clavicle hook, Narrow chest, Abnormal form of the vertebral bodies, Short thorax, Undulat... ORPHA:1801
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Short thorax, Sacral dimple, Vertebral fusion, Vertebral segmentation defect OMIM:618845
Sprengel Deformity
Cervical segmentation defect, Spina bifida occulta, Scoliosis, Hemivertebrae, Sprengel anomaly, R... OMIM:184400
Isolated Osteopoikilosis
Sclerotic foci in hand bones, Abnormal bone ossification, Sclerotic foci within carpal bones, Tar... ORPHA:166119
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Cranial hyperostosis, Abnormal cortical bone morphology ORPHA:3416
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Scoliosis, Thin ribs, Short ribs, Hemivertebrae, Missing ribs, Block vertebrae, Rib fusion, Short... OMIM:271520
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Failure to thrive, Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentrati... OMIM:616834
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Endosteal Hyperostosis, Worth Type
Generalized osteosclerosis, Clavicular sclerosis, Abnormal cortical bone morphology, Craniofacial... ORPHA:2790
Flynn-Aird Syndrome
Increased bone mineral density, Joint stiffness, Osteoporosis, Increased bone density with cystic... OMIM:136300
Klippel-Feil Syndrome 2, Autosomal Recessive
Fused cervical vertebrae, Cervical C2/C3 vertebral fusion, Scoliosis, Sprengel anomaly, Short neck OMIM:214300
Melorheostosis
Increased bone mineral density, Arthritis, Hyperostosis, Ectopic ossification in muscle tissue, F... ORPHA:2485
Van Buchem Disease
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones OMIM:239100
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Cervical spinal canal stenosis, Popliteal pterygium, Tarsal synostosis, Spondylolisthesis, Barrel... OMIM:178110
Osteopetrosis, Autosomal Recessive 9
Hyperkalemia, Osteopetrosis, Increased bone mineral density, Cortical sclerosis, Pathologic fract... OMIM:620366
Osteochondrosis Of The Metatarsal Bone
Joint stiffness, Arthritis, Sclerosis of foot bone, Thickened cortex of bones ORPHA:564003
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density, Obesity OMIM:618406
Heart Defects-Limb Shortening Syndrome
Narrow chest, Abnormal form of the vertebral bodies, Kyphosis, Abnormal rib morphology, Accelerat... ORPHA:1354
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Increased bone mineral density, Craniosynostosis ORPHA:178377
Osteogenesis Imperfecta, Type Ix
Pectus carinatum, Scoliosis, Wormian bones, Recurrent fractures, Pectus excavatum, Kyphosis, Decr... OMIM:259440
Axial Osteomalacia
Increased bone mineral density, Osteomalacia, Elevated circulating creatine kinase concentration OMIM:109130
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Sclerosteosis
Increased bone mineral density, Abnormal cortical bone morphology, Craniofacial hyperostosis ORPHA:3152
Mueller-Weiss Syndrome
Knee osteoarthritis, Arthritis, Limitation of movement at ankles, Joint stiffness, Sclerosis of f... ORPHA:566943
Peroxisome Biogenesis Disorder 3B
Steatorrhea, Osteoporosis, Elevated circulating phytanic acid concentration, Failure to thrive, H... OMIM:266510
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Scoliosis, Abnormal sacrum morphology, Fused cervical vertebrae, Thoracic hemivertebrae ORPHA:1436
Autosomal Dominant Spondylocostal Dysostosis
Spina bifida occulta, Short thorax, Scoliosis, Hyperlordosis, Vertebral segmentation defect, Miss... ORPHA:1797
Bile Acid Synthesis Defect, Congenital, 1
Rickets, Steatorrhea, Failure to thrive, Conjugated hyperbilirubinemia, Hypocholesterolemia OMIM:607765
Vertebral Hypersegmentation And Orofacial Anomalies
Scapular winging, Pectus excavatum, Six lumbar vertebrae, Supernumerary ribs, Joint hypermobility OMIM:619122
Developmental And Speech Delay Due To Sox5 Deficiency
Butterfly vertebrae, Pectus carinatum, Scoliosis, Thoracic kyphoscoliosis, Lumbar hyperlordosis, ... ORPHA:313892
Trichodentoosseous Syndrome
Increased bone mineral density OMIM:190320
Glycogen Storage Disease Vi
Hypertriglyceridemia, Failure to thrive in infancy, Hypercholesterolemia, Hyperlipidemia OMIM:232700
Klippel-Feil Syndrome 1, Autosomal Dominant
Cervical C2/C3 vertebral fusion, Scoliosis, Abnormal rib morphology, Sprengel anomaly, Short neck... OMIM:118100
Metatropic Dysplasia
Abnormal intervertebral disk morphology, Narrow chest, Abnormal form of the vertebral bodies, Sco... ORPHA:2635
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Osteopetrosis, Autosomal Dominant 1
Osteopetrosis, Calvarial osteosclerosis, Thickened cortex of long bones, Generalized osteoscleros... OMIM:607634
Brachydactyly, Type B1
Joint contracture of the hand, Hypoplastic sacrum, Delayed cranial suture closure, Hemivertebrae,... OMIM:113000
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal clavicle morphology, Fused cervical vertebrae, Hyperlordosis, Pectus excavatum, Kyphosis... ORPHA:2522
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Scoliosis, Fused cervical vertebrae, Thoracic hemivertebrae, Prominent metopic ridge OMIM:309620
Kbg Syndrome
Scoliosis, Thoracic kyphosis, Persistent open anterior fontanelle, Delayed skeletal maturation, C... ORPHA:2332
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Lateral clavicle hook, Narrow chest, Short ribs, Acetabular spurs, Trident acetabulum, Horizontal... OMIM:617405
Osteosclerosis With Ichthyosis And Fractures
Increased bone mineral density, Recurrent fractures, Cortical thickening of long bone diaphyses OMIM:166740
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2204
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ... OMIM:606842
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Scoliosis, Hyperlordosis, Elevated circulating creatine kinase concentration, Kyphosis, Achilles ... OMIM:606612
Hypobetalipoproteinemia, Familial, 1
Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Decreased LDL cholest... OMIM:615558
Multiple Pterygium Syndrome, X-Linked
Multiple pterygia, Joint dislocation, Thin ribs, Abnormal cervical curvature, Flexion contracture... OMIM:312150
Spondylometaphyseal Dysplasia, A4 Type
Platyspondyly, Flared, irregular rib ends, Limitation of joint mobility ORPHA:168555
Mesomelic Dysplasia, Kantaputra Type
Tarsal synostosis, Cubitus valgus, Vertebral segmentation defect, Synostosis of carpal bones, Abn... ORPHA:1836
Keratoconus Posticus Circumscriptus
Short neck, Limited elbow extension and supination, Abnormal vertebral segmentation and fusion OMIM:244600
Intermediate Osteopetrosis
Abnormality of bone mineral density, Recurrent fractures, Cortical sclerosis, Generalized osteosc... ORPHA:210110
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144300
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial osteosclerosis, Cortical sclerosis, Craniofacial hyperostosis, Diaphyseal sclerosis OMIM:122860
Kniest Dysplasia
Fused cervical vertebrae, Bell-shaped thorax, Delayed epiphyseal ossification, Short thorax, Vert... ORPHA:485
Multiple Pterygium Syndrome, Lethal Type
Multiple pterygia, Joint dislocation, Thin ribs, Abnormal cervical curvature, Flexion contracture... OMIM:253290
Combined Oxidative Phosphorylation Deficiency 34
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:617872
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Thoracolaryngopelvic Dysplasia
Bell-shaped thorax, Scoliosis, Short ribs, Irregular chondrocostal junctions, Irregular vertebral... OMIM:187760
Becker Nevus Syndrome
Scoliosis, Hemivertebrae, Pectus excavatum, Cervical ribs OMIM:604919
Spondylometaphyseal Dysplasia, Type A4
Costochondral joint sclerosis, Enlargement of the costochondral junction, Pectus carinatum, Flat ... OMIM:609052
Ring Chromosome 21 Syndrome
Scoliosis, Thoracic hemivertebrae, Abnormal thorax morphology, Fused thoracic vertebrae ORPHA:1445
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Abnormality of the cervical spine, Superior rib anomalies OMIM:307500
Metatropic Dysplasia
Kyphoscoliosis, Relatively short spine, Short ribs, Long coccyx, Cupped ribs, Kyphosis, Flat acet... OMIM:156530
Osteopetrosis, Autosomal Dominant 2
Osteopetrosis, Hip osteoarthritis, Recurrent fractures, Fractures of the long bones, Generalized ... OMIM:166600
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Scoliosis, Hyperlordosis, Elevated circulating creatine kinase concentration, Kyphosis, Achilles ... OMIM:607155
Osteogenesis Imperfecta, Type Xv
Platyspondyly, Scoliosis, Thin ribs, Joint hypermobility, Bowing of limbs due to multiple fractur... OMIM:615220
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Abnormal bone ossification, Biconvex vertebral bodies, Reduced bone mineral density, Pectus carin... ORPHA:93315
Squalene Synthase Deficiency
Increased circulating farnesol concentration, Elbow flexion contracture, Elevated circulating met... OMIM:618156
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Multiple joint dislocation, Carpal bone hypoplasia, Joint hypermobility, Dislocated radial head, ... OMIM:618395
Analbuminemia
Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Osteopor... OMIM:616000
Wildervanck Syndrome
Fused cervical vertebrae OMIM:314600
Potocki-Lupski Syndrome
Failure to thrive, Hypocholesterolemia, Small for gestational age OMIM:610883
Endosteal Hyperostosis, Autosomal Dominant
Clavicular sclerosis, Metacarpal diaphyseal endosteal sclerosis, Hyperostosis, Metatarsal diaphys... OMIM:144750
Spondyloepimetaphyseal Dysplasia, Irapa Type
Abnormal carpal morphology, Genu valgum, Pectus carinatum, Limitation of joint mobility, Synostos... ORPHA:93351
Hyperlipidemia, Familial Combined, 3
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... OMIM:144250
Osteopetrosis, Autosomal Recessive 1
Femur fracture, Osteopetrosis, Calvarial osteosclerosis, Increased bone mineral density, Hypocalc... OMIM:259700
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Abnormal form of the vertebral bodies, Scoliosis, Hemivertebrae, Kyphosis, Hypoplastic vertebral ... ORPHA:2916
Aarskog-Scott Syndrome
Genu recurvatum, Pectus excavatum, Camptodactyly of finger, Joint hypermobility, Short neck, Abno... ORPHA:915
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Short neck, Vertebral segmentation defect, Abnormal rib morphology ORPHA:2578
Otopalatodigital Syndrome Type 1
Increased bone mineral density, Limitation of joint mobility, Synostosis of carpal bones, Elbow d... ORPHA:90650
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Failure to thrive, Hypercholesterolemia, Hyperlipidemia OMIM:615863
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteopenia, Fused cervical vertebrae, Osteolysis, Elevated circulating C-reactive protein concent... OMIM:612852
Familial Congenital Mirror Movements
Fused cervical vertebrae ORPHA:238722
Interstitial Nephritis, Karyomegalic
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:614817
Verheij Syndrome
Scoliosis, Hemivertebrae, Joint hypermobility, Short neck, Hip dislocation, Vertebral fusion OMIM:615583
Spondyloepimetaphyseal Dysplasia, Irapa Type
Limited elbow extension, Hypoplastic sacrum, Genu valgum, Enlargement of the costochondral juncti... OMIM:271650
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Hypoplastic distal segments of scapulae, Joint hypermobility, Pectus excavatum, Abnormal rib morp... OMIM:602196
Frontometaphyseal Dysplasia 1
Limited elbow movement, Ankle flexion contracture, Genu valgum, Fused cervical vertebrae, Cervica... OMIM:305620
Congenital Pseudoarthrosis Of The Clavicle
Congenital pseudoarthrosis of the clavicle, Osteoarthritis, Cervical ribs ORPHA:66630
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Hydroxyprolinemia, Hyperuricemia, Increased bone mineral density, Osteoporosis, Failu... OMIM:239000
Grant Syndrome
Narrow chest, Joint dislocation, Wormian bones, Decreased skull ossification, Abnormal rib morpho... ORPHA:2097
Spondylocarpotarsal Synostosis Syndrome
Limited elbow extension, Tarsal synostosis, Pectus carinatum, Scoliosis, Hyperlordosis, Scapular ... OMIM:272460
Axial Spondylometaphyseal Dysplasia
Osteopenia, Aplasia/Hypoplasia of the vertebrae, Narrow chest, Scoliosis, Short ribs, Deformed ri... ORPHA:168549
Poland Syndrome
Hemivertebrae, Sprengel anomaly, Short ribs, Rib fusion OMIM:173800
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Abnormal form of the vertebral bodies, Hemivertebrae, Abnormal rib morphology, Abnormality of the... ORPHA:2234
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
Pseudohypoparathyroidism Type 1B
Hypocalcemic seizures, Diaphyseal sclerosis, Increased bone mineral density, Hypocalcemia, Hypoca... ORPHA:94089
Basal Cell Nevus Syndrome 1
Kyphoscoliosis, Vertebral wedging, Abnormal sternum morphology, Scoliosis, Short ribs, Hemiverteb... OMIM:109400
Albers-Schönberg Osteopetrosis
Hypocalcemia, Arthritis, Recurrent fractures, Osteoarthritis, Generalized osteosclerosis, Mandibu... ORPHA:53
Ghosal Hematodiaphyseal Dysplasia
Increased bone mineral density, Hyperostosis cranialis interna, Myelofibrosis OMIM:231095
Osteopetrosis, Autosomal Recessive 4
Increased bone mineral density, Osteopetrosis, Recurrent fractures OMIM:611490
Gorlin Syndrome
Bifid ribs, Abnormal vertebral morphology, Vertebral wedging, Scoliosis, Hemivertebrae, Abnormal ... ORPHA:377
Becker Nevus Syndrome
Spina bifida occulta, Pectus carinatum, Scoliosis, Pectus excavatum, Kyphosis, Supernumerary ribs... ORPHA:64755
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal clavicle morphology, Narrow chest, Decreased skull ossification, Abnormal rib morphology... ORPHA:93267
Lethal Recessive Chondrodysplasia
Generalized osteosclerosis ORPHA:1423
Schnitzler Syndrome
Increased bone mineral density, Arthritis ORPHA:37748
Chylomicron Retention Disease
Failure to thrive, Steatorrhea, Hypocholesterolemia ORPHA:71
Congenital Disorder Of Glycosylation, Type Il
Failure to thrive, Hypocholesterolemia, Hypoalbuminemia OMIM:608776
Diastrophic Dysplasia
Abnormal clavicle morphology, Joint dislocation, Abnormal form of the vertebral bodies, Increased... ORPHA:628
Lethal Congenital Contracture Syndrome Type 1
Abnormal form of the vertebral bodies, Limitation of joint mobility, Abnormal rib morphology, Abn... ORPHA:1486
Postaxial Acrofacial Dysostosis
Supernumerary vertebrae, Pectus excavatum, Congenital hip dislocation, Radioulnar synostosis OMIM:263750
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Cervical C2/C3 vertebral fusion, Thoracolumbar scoliosis, Flexion contracture, Acetabular dysplas... OMIM:616549
Caudal Regression Syndrome
Aplasia/Hypoplasia of the sacrum, Scoliosis, Missing ribs, Joint stiffness, Hypoplastic vertebral... ORPHA:3027
Larsen Syndrome
Beaking of vertebral bodies, Spondylolysis, Multiple carpal ossification centers, Spina bifida oc... OMIM:150250
Infantile-Onset X-Linked Spinal Muscular Atrophy
Kyphoscoliosis, Ankle flexion contracture, Short ribs, Elbow flexion contracture, Cupped ribs, In... ORPHA:1145
Autosomal Recessive Spondylocostal Dysostosis
Abnormal intervertebral disk morphology, Spina bifida occulta, Abnormal form of the vertebral bod... ORPHA:2311
Wildervanck Syndrome
Short neck, Fused cervical vertebrae ORPHA:3456
Fibrochondrogenesis 2
Bell-shaped thorax, Short ribs, Cupped ribs, Thoracic hypoplasia, Platyspondyly OMIM:614524
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Lateral clavicle hook, Bell-shaped thorax, Narrow chest, Thoracic dysplasia, Horizontal ribs OMIM:615633
Mosaic Trisomy 14
Camptodactyly of finger, Short neck, Narrow chest, Abnormal rib morphology ORPHA:1703
Schneckenbecken Dysplasia
Lateral clavicle hook, Stillbirth, Narrow chest, Short ribs, Flat acetabular roof, Narrow vertebr... OMIM:269250
Paget Disease Of Bone 3
Fractures of the long bones, Osteolysis, Patchy osteosclerosis OMIM:167250
Trichothiodystrophy 6, Nonphotosensitive
Increased bone mineral density, Small for gestational age, Coronal craniosynostosis OMIM:616943
Chondrodysplasia, Blomstrand Type
Generalized osteosclerosis, Advanced ossification of carpal bones, Advanced tarsal ossification OMIM:215045
3Q29 Microdeletion Syndrome
Joint hypermobility, Pectus carinatum, Pectus excavatum, Six lumbar vertebrae ORPHA:65286
Hereditary Renal Hypouricemia
Hypouricemia, Back pain, Increased blood urea nitrogen ORPHA:94088
Alkaptonuria
Limitation of knee mobility, Intervertebral disk degeneration, Arthritis, Arthropathy, Kyphosis, ... OMIM:203500
Osteogenesis Imperfecta, Type Xiii
Reduced bone mineral density, Limitation of knee mobility, Increased bone mineral density, Decrea... OMIM:614856
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Beaking of vertebral bodies, Scoliosis, Delayed ossification of carpal bones, Flat acetabular roo... OMIM:609616
Autoimmune Hypoparathyroidism
Hypocalcemic seizures, Increased bone mineral density, Hypocalcemia, Hypocalcemic tetany, Hyperph... ORPHA:36913
Multiple Pterygium Syndrome, Escobar Variant
Dislocated radial head, Kyphosis, Hip dislocation, Long clavicles, Axillary pterygium, Pterygium,... OMIM:265000
Mucopolysaccharidosis Type 4
Reduced bone mineral density, Genu valgum, Joint hypermobility, Joint dislocation, Short thorax, ... ORPHA:582
Spondyloepiphyseal Dysplasia Tarda
Localized osteoporosis, Limited elbow movement, Stiff knee, Hip osteoarthritis, Increased bone mi... ORPHA:93284
Mucopolysaccharidosis, Type Iva
Anterior beaking of lumbar vertebrae, Lumbar kyphosis, Genu valgum, Joint hypermobility, Pectus c... OMIM:253000
Ehlers-Danlos Syndrome, Classic-Like, 2
Osteopenia, Generalized joint hypermobility, Cervical C2/C3 vertebral fusion, Shoulder dislocatio... OMIM:618000
White Forelock With Malformations
Spina bifida occulta, Abnormal rib morphology, Delayed skeletal maturation, Sprengel anomaly, Joi... ORPHA:2475
Mosaic Trisomy 20
Fused cervical vertebrae, Narrow chest, Scoliosis, Vertebral segmentation defect, Kyphosis, Spina... ORPHA:1724
Lymphangiectasia, Intestinal
Stillbirth, Neonatal hypoproteinemia, Prominent floating ribs OMIM:152800
Lateral Meningocele Syndrome
Scoliosis, Wormian bones, Pectus excavatum, Kyphosis, Biconcave vertebral bodies, Sclerosis of sk... OMIM:130720
Drug-Induced Lupus Erythematosus
Increased blood urea nitrogen, Elevated circulating creatine kinase concentration, Elevated circu... ORPHA:231111
Orthostatic Hypotension 1
Joint hypermobility, Increased blood urea nitrogen, Hypomagnesemia, Elevated circulating dihydrox... OMIM:223360
Waardenburg Syndrome, Type 1
Sprengel anomaly, Supernumerary ribs, Supernumerary vertebrae OMIM:193500
Lamb-Shaffer Syndrome
Scoliosis, Thoracic kyphosis, Fused cervical vertebrae ORPHA:530983
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Increased blood urea nitrogen, Hyponatremia, Hypomagnesemia, Hyperuricemia OMIM:613845
Koolen-De Vries Syndrome
Scoliosis, Vertebral segmentation defect, Pectus excavatum, Kyphosis, Joint hypermobility, Hip di... ORPHA:96169
Craniodiaphyseal Dysplasia
Abnormal rib morphology ORPHA:1513
Majeed Syndrome
Increased bone mineral density, Cachexia, Synovitis, Failure to thrive, Flexion contracture, Weig... ORPHA:77297
Osteogenesis Imperfecta, Type Ii
Absent ossification of calvaria, Bell-shaped thorax, Recurrent fractures, Thin ribs, Wormian bone... OMIM:166210
Atelosteogenesis, Type I
Stillbirth, Long clavicles, Fused cervical vertebrae, 11 pairs of ribs, Bell-shaped thorax, Narro... OMIM:108720
Holt-Oram Syndrome
Abnormal clavicle morphology, Scoliosis, Pectus excavatum, Abnormal rib morphology, Kyphosis, Joi... ORPHA:392
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Increased bone mineral density, Osteopetrosis, Decreased body weight OMIM:617306
46,Xy Sex Reversal 4
Increased blood urea nitrogen, Distal symphalangism, Elevated circulating creatinine concentration OMIM:154230
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Beaking of vertebral bodies, Sacral dimple, Narrow chest, Craniosynostosis, Hyperextensibility of... OMIM:213980
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia OMIM:618810
Femoral-Facial Syndrome
Scoliosis, Vertebral segmentation defect, Abnormal rib morphology, Radioulnar synostosis, Sprenge... ORPHA:1988
Achondrogenesis Type 1B
Narrow chest, Short thorax, Abnormal enchondral ossification, Abnormal rib morphology, Short neck ORPHA:93298
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Stillbirth, Decreased cranial base ossification, Narrow chest, Thin ribs, Short ribs, Flat acetab... OMIM:151210
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Increased blood urea nitrogen, Neuropathic arthropathy, Scoliosis, Elevated circulating creatinin... OMIM:223900
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Increased bone mineral density, Abnormal bone ossification, Delayed patellar ossification ORPHA:163649
Achondrogenesis, Type Ia
Stillbirth, Hypoplastic sacrum, Bell-shaped thorax, Barrel-shaped chest, Narrow chest, Short thor... OMIM:200600
Thanatophoric Dysplasia, Type Ii
Platyspondyly, Narrow chest, Wide-cupped costochondral junctions, Short ribs, Neonatal death, Sma... OMIM:187601
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Abnormal form of the vertebral bodies, Hemivertebrae, Missing ribs, Abnormal rib morphology, Join... ORPHA:2759
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Abnormal form of the vertebral bodies, Scoliosis, Hemivertebrae, Abnormal rib morphology, Sprenge... ORPHA:2180
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Increased bone mineral density, Coarse metaphyseal trabecularization, Sclerosis of mi... ORPHA:85188
Osteogenesis Imperfecta, Type Iii
Thin ribs, Scoliosis, Kyphosis, Biconcave vertebral bodies, Multiple prenatal fractures, Protrusi... OMIM:259420
Dysosteosclerosis
Increased bone mineral density, Coarse metaphyseal trabecularization, Recurrent fractures, Cranio... ORPHA:1782
Jeune Syndrome
Abnormal clavicle morphology, Narrow chest, Short thorax, Abnormal sternum morphology, Abnormal r... ORPHA:474
Microphthalmia, Syndromic 3
Butterfly vertebrae, Hemivertebrae, Vertebral hypoplasia, Missing ribs, Supernumerary ribs, Rib f... OMIM:206900
Fibrodysplasia Ossificans Progressiva
Ectopic ossification in tendon tissue, Scoliosis, Ectopic ossification in ligament tissue, Ectopi... OMIM:135100
Dyggve-Melchior-Clausen Disease
Beaking of vertebral bodies, Limited elbow extension, Genu valgum, Abnormality of the vertebral c... ORPHA:239
Juberg-Hayward Syndrome
Abnormal vertebral morphology, Abnormality of the wrist, Scoliosis, Abnormal rib morphology, Radi... ORPHA:2319
Pseudoachondroplasia
Beaking of vertebral bodies, Limited elbow extension, Carpal bone hypoplasia, Genu valgum, Spatul... OMIM:177170
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Genu valgum, Delayed pubic bone ossification, Pectus carinatum, Scoliosis, Hyperlordosis, Anterio... OMIM:184250
Maternal Uniparental Disomy Of Chromosome 4
Decreased body weight, Elevated circulating creatine kinase concentration, Abetalipoproteinemia, ... ORPHA:96180
Hypophosphatasia
Narrow chest, Abnormal rib morphology, Hypercalcemia, Craniosynostosis, Recurrent fractures ORPHA:436
Mucopolysaccharidosis, Type X
Beaking of vertebral bodies, Genu valgum, Spatulate ribs, Broad clavicles, Scoliosis, Hyperlordos... OMIM:619698
Congenital Disorder Of Glycosylation, Type Ia
Osteopenia, Steatorrhea, Failure to thrive, Flexion contracture, Hypoalbuminemia, Hypocholesterol... OMIM:212065
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612924
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Limited elbow extension, Flat acetabular roof, Pectus excavatum, Ovoid vertebral bodies, Thoracic... OMIM:608728
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612926
Fibrochondrogenesis
Bell-shaped thorax, Narrow chest, Abnormal form of the vertebral bodies, Short ribs, Abnormal rib... ORPHA:2021
Osteopetrosis, Autosomal Recessive 2
Cranial hyperostosis, Osteopetrosis, Diaphyseal sclerosis, Recurrent fractures, Decreased osteocl... OMIM:259710
Kenny-Caffey Syndrome, Type 2
Transient hypophosphatemia, Increased bone mineral density, Hypocalcemia, Thickened cortex of lon... OMIM:127000
Paternal Uniparental Disomy Of Chromosome 1
Increased blood urea nitrogen, Craniosynostosis, Hypercalcemia, Recurrent fractures ORPHA:251004
Koolen-De Vries Syndrome
Sacral dimple, Spondylolisthesis, Scoliosis, Pectus excavatum, Kyphosis, Prominent metopic ridge,... OMIM:610443
3M Syndrome
Increased vertebral height, Abnormality of the elbow, Short thorax, Thin ribs, Enlarged thorax, S... ORPHA:2616
Osteogenesis Imperfecta, Type Xviii
Vertebral compression fracture, Thin ribs, Biconcave vertebral bodies, Generalized osteoporosis, ... OMIM:617952
Dyggve-Melchior-Clausen Disease
Multicentric ossification of proximal humeral epiphyses, Pectus carinatum, Multicentric ossificat... OMIM:223800
Abetalipoproteinemia
Osteopenia, Steatorrhea, Decreased HDL cholesterol concentration, Hypotriglyceridemia, Hyperbilir... ORPHA:14
Osteopetrosis, Autosomal Recessive 8
Failure to thrive, Osteopetrosis OMIM:615085
Achondrogenesis Type 1A
Narrow chest, Short thorax, Recurrent fractures, Abnormal enchondral ossification, Short neck, Mu... ORPHA:93299
Stapes Ankylosis With Broad Thumbs And Toes
Proximal/middle symphalangism of 5th finger, Fused cervical vertebrae OMIM:184460
Fibrochondrogenesis 1
Stillbirth, Long clavicles, Thin clavicles, Widely patent coronal suture, Thin ribs, Short ribs, ... OMIM:228520
Septopreoptic Holoprosencephaly
Abnormal vertebral morphology, Abnormal rib morphology ORPHA:280195
Otopalatodigital Syndrome Type 2
Tarsal synostosis, Narrow chest, Increased bone mineral density, Scoliosis, Synostosis of carpal ... ORPHA:90652
Kbg Syndrome
Cervical ribs, Thoracic kyphosis, Short neck, Delayed skeletal maturation, Rib fusion, Vertebral ... OMIM:148050
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:612925
Autosomal Recessive Hypophosphatemic Rickets
Pseudo-fractures, Hypophosphatemic rickets, Rickets of the lower limbs, Increased bone mineral de... ORPHA:289176
Autosomal Recessive Kenny-Caffey Syndrome
Thin clavicles, Calvarial osteosclerosis, Hypocalcemic seizures, Hypocalcemia, Thin ribs, Delayed... ORPHA:93324
Cooper-Jabs Syndrome
Reduced bone mineral density, Scoliosis, Missing ribs, Abnormal rib morphology, Camptodactyly of ... ORPHA:1488
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Butterfly vertebrae, Fused cervical vertebrae, Spina bifida occulta, Pectus excavatum, Sprengel a... OMIM:619227
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Joint hypermobility, Recurrent fractures, Abnormal rib morphology, Decreased calvarial ossification ORPHA:2772
Thrombocytopenia-Absent Radius Syndrome
Fused cervical vertebrae, Aplasia/Hypoplasia of the patella, Scoliosis, Cervical ribs, Patellar d... ORPHA:3320
Chromosome 8Q22.1 Duplication Syndrome
Cubitus valgus, Cervical C2/C3 vertebral fusion, Genu recurvatum, Limitation of joint mobility, J... OMIM:151200
Osteogenesis Imperfecta, Type Xvi
Osteopenia, Vertebral compression fracture, Narrow chest, Recurrent fractures, Wormian bones, Dec... OMIM:616229
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Joint hypermobility, Cervical C2/C3 vertebral fusion, Camptodactyly OMIM:617333
Phaver Syndrome
Butterfly vertebrae, Pterygium, Abnormal form of the vertebral bodies, Abnormal rib morphology, J... ORPHA:2876
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Increased bone mineral density, Thin bony cortex, Osteopenia ORPHA:85184
Melnick-Needles Syndrome
Osteolytic defects of the phalanges of the hand, Narrow chest, Short thorax, Short clavicles, Sco... ORPHA:2484
Craniometaphyseal Dysplasia
Osteopetrosis, Craniofacial hyperostosis ORPHA:1522
Uremic Pruritus
Increased blood urea nitrogen, Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia ORPHA:94059
Intellectual Developmental Disorder, Autosomal Dominant 52
Cervical C2/C3 vertebral fusion, Pectus carinatum, Scapular winging, Lumbar scoliosis, Lumbar hyp... OMIM:617796
Cole-Carpenter Syndrome
Abnormal form of the vertebral bodies, Scoliosis, Wormian bones, Kyphosis, Abnormal rib morpholog... ORPHA:2050
Beemer-Ertbruggen Syndrome
Increased bone mineral density ORPHA:1237
Laryngotracheoesophageal Cleft Type 4
Abnormal rib morphology, Abnormal form of the vertebral bodies ORPHA:93941
10Q22.3Q23.3 Microduplication Syndrome
Abnormal clavicle morphology, Abnormal rib morphology ORPHA:276422
Hypercholesterolemia, Familial, 3
Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration OMIM:603776
Robinow Syndrome, Autosomal Recessive 1
Hypoplastic sacrum, Sacral dimple, Dislocated radial head, Scoliosis, Hemivertebrae, Proximal/mid... OMIM:268310
Spondyloepimetaphyseal Dysplasia, Missouri Type
Limited elbow extension, Pear-shaped vertebrae, Irregular sclerotic endplates, Flared, irregular ... OMIM:602111
Kenny-Caffey Syndrome, Type 1
Long clavicles, Thin clavicles, Calvarial osteosclerosis, Hypocalcemia, Thin ribs, Decreased skul... OMIM:244460
Osteogenesis Imperfecta, Type X
Osteopenia, Genu valgum, Narrow chest, Vertebral compression fracture, Thin ribs, Scoliosis, Decr... OMIM:613848
Alg12-Cdg
Abnormal bone ossification, Camptodactyly, Failure to thrive, Hyponatremia, Hypoalbuminemia, Hypo... ORPHA:79324
Cole-Carpenter Syndrome 2
Osteopenia, Lambdoidal craniosynostosis, Thin ribs, Wormian bones, Pectus excavatum, Kyphosis, Co... OMIM:616294
Desmosterolosis
Elevated circulating desmosterol concentration, Abnormal circulating cholesterol concentration, F... OMIM:602398
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Diaphyseal cortical sclerosis, Osteopenia, Fractures of the long bones, Patchy osteosclerosis, Os... OMIM:112250
Faciodigitogenital Syndrome, Autosomal Recessive
Pectus excavatum, Camptodactyly, Abnormal rib cage morphology, Hyperextensible hand joints, Down-... OMIM:227330
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Sprengel anomaly, Abnormal rib morphology, Abnormality of the vertebral column OMIM:601076
Aicardi Syndrome
Butterfly vertebrae, Bifid ribs, Scoliosis, Missing ribs, Supernumerary ribs, Block vertebrae, Ri... ORPHA:50
Osteopathia Striata-Cranial Sclerosis Syndrome
Increased bone mineral density, Osteopetrosis, Coarse metaphyseal trabecularization, Facial hyper... ORPHA:2780
Cockayne Syndrome Type 1
Increased blood urea nitrogen, Scoliosis, Foot joint contracture ORPHA:90321
Familial Osteodysplasia, Anderson Type
Abnormal form of the vertebral bodies, Hyperuricemia, Recurrent fractures, Scoliosis, Missing rib... ORPHA:2769
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Hyperlipidemia OMIM:235400
Osteopetrosis, Autosomal Recessive 5
Cranial hyperostosis, Osteopetrosis, Increased bone mineral density, Hypocalcemia, Hyperbilirubin... OMIM:259720
Pycnodysostosis
Increased bone mineral density, Osteolytic defects of the distal phalanges of the hand, Coronal c... ORPHA:763
Brachytelephalangic Chondrodysplasia Punctata
Butterfly vertebrae, Cervical spinal canal stenosis, Epiphyseal stippling of toe phalanges, Abnor... ORPHA:79345
Tricho-Dento-Osseous Syndrome
Increased bone mineral density ORPHA:3352
Mucolipidosis Iii Alpha/Beta
Carpal bone hypoplasia, Spondylolisthesis, Scoliosis, Short ribs, Limitation of joint mobility, I... OMIM:252600
Aicardi Syndrome
Butterfly vertebrae, Bifid ribs, Scoliosis, Hemivertebrae, Missing ribs, Supernumerary ribs, Bloc... OMIM:304050
Greenberg Dysplasia
Short ribs, Decreased skull ossification, Multiple prenatal fractures, Hypoplastic vertebral bodi... OMIM:215140
Hypercholesterolemia, Familial, 2
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
Microcephalic Primordial Dwarfism, Toriello Type
Delayed skeletal maturation, Abnormal rib morphology ORPHA:2643
Dysosteosclerosis
Osteopenia, Clavicular sclerosis, Narrow chest, Increased intervertebral space, Short ribs, Scler... OMIM:224300
Osteogenesis Imperfecta, Type Viii
Osteopenia, Barrel-shaped chest, Vertebral compression fracture, Scoliosis, Thin ribs, Wormian bo... OMIM:610915
Camurati-Engelmann Disease
Diaphyseal sclerosis, Increased bone mineral density, Cortical thickening of long bone diaphyses,... OMIM:131300
Mucopolysaccharidosis, Type Ivb
Genu valgum, Scoliosis, Hyperlordosis, Prominent sternum, Kyphosis, Osteoporosis, Joint stiffness... OMIM:253010
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Platyspondyly, Decreased skull ossification, Thin ribs, 11 pairs of ribs OMIM:300863
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Osteopetrosis, Diaphyseal sclerosis, Hypocalcemia, Increased skull ossification, Craniofacial ost... OMIM:618476
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Cervical C2/C3 vertebral fusion ORPHA:370010
Cenani-Lenz Syndrome
Abnormal form of the vertebral bodies, Scoliosis, Synostosis of carpal bones, Abnormal rib morpho... ORPHA:3258
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Osteopenia, Wormian bones, Short ribs, Decreased skull ossification, Multiple prenatal fractures,... OMIM:616897
Prune Belly Syndrome
Scoliosis, Vertebral segmentation defect, Pectus excavatum, Abnormal rib morphology, Congenital h... ORPHA:2970
Igg4-Related Retroperitoneal Fibrosis
Elevated circulating C-reactive protein concentration, Increased blood urea nitrogen, Rheumatoid ... ORPHA:49041
Thrombotic Thrombocytopenic Purpura, Hereditary
Increased blood urea nitrogen, Elevated circulating creatinine concentration OMIM:274150
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Kyphoscoliosis, Thin ribs, Thoracic kyphosis, Prominent sternum, Wormian bones, Delayed skeletal ... OMIM:300232
Achondrogenesis, Type Ii
Stillbirth, Barrel-shaped chest, Short ribs, Horizontal ribs, Absent vertebral body mineralization OMIM:200610
Werner Syndrome
Increased bone mineral density, Joint stiffness, Slender build, Osteoporosis ORPHA:902
Mayer-Rokitansky-Küster-Hauser Syndrome
Abnormal sacrum morphology, Vertebral segmentation defect, Vertebral fusion, Abnormal form of the... ORPHA:3109
Renpenning Syndrome
Joint stiffness, Sprengel anomaly, Pectus excavatum, Abnormal rib morphology ORPHA:3242
Mucopolysaccharidosis, Type Iiia
Dense calvaria, Scoliosis, Joint stiffness, Ovoid thoracolumbar vertebrae, Thickened ribs OMIM:252900
Frontometaphyseal Dysplasia
Limited elbow movement, Fused cervical vertebrae, Limitation of knee mobility, Spina bifida occul... ORPHA:1826
Citrullinemia, Type Ii, Neonatal-Onset
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Increa... OMIM:605814
Axial Mesodermal Dysplasia Spectrum
Abnormal form of the vertebral bodies, Scoliosis, Vertebral segmentation defect, Missing ribs, Ab... ORPHA:1834
Cerebrofaciothoracic Dysplasia
Narrow chest, Scoliosis, Hemivertebrae, Vertebral segmentation defect, Rib fusion, Sprengel anoma... ORPHA:1394
Acro-Renal-Mandibular Syndrome
Abnormal clavicle morphology, Butterfly vertebrae, Pectus carinatum, Thin ribs, Scoliosis, Hemive... ORPHA:958
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Pectus carinatum, Kyphosis, Short neck, Abnormal rib morphology ORPHA:3082
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Pectus carinatum, Hyperlordosis, Limitation of joint mobility, Abnormal rib morphology, Delayed s... ORPHA:3068
Three M Syndrome 2
Short thorax, Pectus carinatum, Thin ribs, Hyperlordosis, Scapular winging, Delayed skeletal matu... OMIM:612921
Mucopolysaccharidosis, Type Iiic
Kyphoscoliosis, Beaking of vertebral bodies, Dense calvaria, Joint stiffness, Ovoid thoracolumbar... OMIM:252930
Shashi-Pena Syndrome
Cervical C2/C3 vertebral fusion, Scoliosis, Osteoporosis, Kyphosis, Accelerated skeletal maturation OMIM:617190
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Abnormal rib morphology ORPHA:1506
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Methylmalonic acidemia, Bell-shaped thorax, Hyperhomocystinemia, Delayed skeletal maturation, Ele... OMIM:614857
Cat-Eye Syndrome
Abnormal rib morphology ORPHA:195
Antley-Bixler Syndrome
Narrow chest, Delayed cranial suture closure, Abnormal rib morphology, Joint stiffness, Camptodac... ORPHA:83
Sifrim-Hitz-Weiss Syndrome
Wormian bones, Short clavicles, Fused cervical vertebrae, Flat acetabular roof OMIM:617159
Pseudohypoparathyroidism Type 1C
Calcinosis, Hypocalcemic seizures, Increased bone mineral density, Hypocalcemia, Ectopic ossifica... ORPHA:79444
Dysostosis, Stanescu Type
Increased bone mineral density, Massively thickened long bone cortices ORPHA:1798
Desmosterolosis
Increased bone mineral density, Failure to thrive, Osteopetrosis ORPHA:35107
Dopamine Beta-Hydroxylase Deficiency
Increased blood urea nitrogen, Elevated circulating creatinine concentration ORPHA:230
Mucopolysaccharidosis, Type Iiib
Joint stiffness, Thickened ribs, Dense calvaria, Ovoid thoracolumbar vertebrae OMIM:252920
Lethal Congenital Contracture Syndrome 5
Elevated circulating creatine kinase concentration, Thin ribs, Flexion contracture, Congenital co... OMIM:615368
Garg-Mishra Progeroid Syndrome
Narrow chest, Thin ribs, Persistent open anterior fontanelle, Ovoid vertebral bodies, Platyspondyly OMIM:620601
Erdheim-Chester Disease
Xanthelasma, Increased bone mineral density, Weight loss, Osteolysis, Osteomyelitis ORPHA:35687
Pseudohypoparathyroidism Type 1A
Calcinosis, Reduced bone mineral density, Hypocalcemic seizures, Increased bone mineral density, ... ORPHA:79443
Myhre Syndrome
Enlarged vertebral pedicles, Limitation of joint mobility, Camptodactyly, Joint stiffness, Platys... OMIM:139210
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Carpal bone hypoplasia, Genu valgum, Scoliosis, Short ribs, Cupped ribs, Irregular chondrocostal ... OMIM:250420
X-Linked Hypophosphatemia
Rickets, Reduced bone mineral density, Vertebral hyperostosis, Arthritis, Limitation of joint mob... ORPHA:89936
Kaufman Oculocerebrofacial Syndrome
Failure to thrive, Hypocholesterolemia OMIM:244450
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Patchy osteosclerosis OMIM:241410
Occipital Horn Syndrome
Limited elbow extension, Genu valgum, Decreased circulating ceruloplasmin concentration, Narrow c... OMIM:304150
Cleidocranial Dysplasia
Genu valgum, Narrow chest, Spina bifida occulta, Abnormal sacrum morphology, Short clavicles, Sco... ORPHA:1452
Schwartz-Jampel Syndrome
Flexion contracture of toe, Increased bone mineral density, Cachexia, Shoulder flexion contractur... ORPHA:800
Cartilage-Hair Hypoplasia
Limited elbow extension, Abnormal bone ossification, Biconvex vertebral bodies, Sacral dimple, Na... ORPHA:175
Mosaic Trisomy 8
Narrow chest, Scoliosis, Vertebral segmentation defect, Limitation of joint mobility, Abnormal ri... ORPHA:96061
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Limited elbow extension, Genu valgum, Thoracic platyspondyly, Platyspondyly, Joint dislocation, H... OMIM:618019
Tangier Disease
Hypertriglyceridemia, Hypocholesterolemia ORPHA:31150
Secondary Intestinal Lymphangiectasia
Decreased circulating prealbumin concentration, Secondary hyperaldosteronism, Reduced circulating... ORPHA:90363
Fanconi Anemia, Complementation Group I
Short neck, Fused cervical vertebrae OMIM:609053
Apolipoprotein C-Ii Deficiency
Hypertriglyceridemia, Decreased circulating apolipoprotein C-II concentration, Hypercholesterolem... OMIM:207750
Mucopolysaccharidosis Type 6
Genu valgum, Kyphosis, Joint stiffness, Ovoid vertebral bodies, Short neck, Broad ribs ORPHA:583
Bent Bone Dysplasia Syndrome 2
Osteopenia, Butterfly vertebrae, Hypoplastic acetabulae, Thin ribs, Short ribs, Decreased calvari... OMIM:620076
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Generalized joint hypermobility, Shoulder subluxation, Fused cervical vertebrae, Thoracic kyphosi... ORPHA:508498
Raine Syndrome
Increased bone mineral density, Subperiosteal bone formation, Hypophosphatemia, Arthrogryposis mu... OMIM:259775
Simpson-Golabi-Behmel Syndrome
Scoliosis, Vertebral segmentation defect, Pectus excavatum, Abnormal rib morphology, Congenital h... ORPHA:373
Craniosynostosis, Herrmann-Opitz Type
Craniosynostosis, Abnormal rib morphology ORPHA:2145
12Q14 Microdeletion Syndrome
Failure to thrive, Osteopoikilosis ORPHA:94063
Gaucher Disease
Osteopenia, Decreased HDL cholesterol concentration, Elevated circulating C-reactive protein conc... ORPHA:355
Poems Syndrome
Sclerosis of skull base, Sclerosis of foot bone, Sclerosis of hand bone, Weight loss ORPHA:2905
Poland Syndrome
Finger symphalangism, Reduced bone mineral density, Asymmetry of the thorax, Spina bifida occulta... ORPHA:2911
Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:97330
Arnold-Chiari Malformation Type I
Stiff neck, Fused cervical vertebrae, Cervical C2/C3 vertebral fusion, Scoliosis, Anteriorly plac... ORPHA:268882
Meier-Gorlin Syndrome 1
Absent sternal ossification, Pectus carinatum, Short ribs, Delayed skeletal maturation, Joint hyp... OMIM:224690
Cantú Syndrome
Narrow chest, Osteoporosis, Delayed skeletal maturation, Accelerated skeletal maturation, Ovoid v... ORPHA:1517
Leukocyte Adhesion Deficiency, Type Iii
Osteopetrosis OMIM:612840
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Abnormally ossified vertebrae, Abnormal rib morphology ORPHA:3035
Gm1-Gangliosidosis, Type I
Beaking of vertebral bodies, Scoliosis, Kyphosis, Joint stiffness, Hypoplastic vertebral bodies, ... OMIM:230500
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Lateral clavicle hook, Narrow chest, Short ribs, Thoracic hypoplasia, Horizontal ribs OMIM:617895
Holzgreve Syndrome
Joint stiffness, Abnormally ossified vertebrae, Abnormal rib morphology ORPHA:2167
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Truncal obesity, Increased LDL cholesterol concentration, Abdominal obesity... OMIM:615812
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Osteopetrosis OMIM:618541
Craniometadiaphyseal Dysplasia
Osteopenia, Genu valgum, Cubitus valgus, Scoliosis, Wormian bones, Broad ribs, Sclerosis of skull... OMIM:269300
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Decreased calvarial ossification, Craniosynostosis, Thin ribs, Arthrogryposis multiplex congenita OMIM:618265
Congenital Myopathy 22B, Severe Fetal
Spinal rigidity, Shoulder flexion contracture, Thin ribs, Scoliosis, Scapular winging, Pectus exc... OMIM:620369
Lenz-Majewski Hyperostotic Dwarfism
Cranial hyperostosis, Osteopetrosis, Abnormal cortical bone morphology, Increased bone mineral de... ORPHA:2658
Apert Syndrome
Limited elbow movement, Lambdoidal craniosynostosis, Delayed epiphyseal ossification, Pectus cari... OMIM:101200
Wolf-Hirschhorn Syndrome
Sacral dimple, Abnormal sternal ossification, Abnormal form of the vertebral bodies, Scoliosis, K... OMIM:194190
Trisomy 13
Scoliosis, Narrow chest, Kyphosis, Abnormal rib morphology ORPHA:3378
Simpson-Golabi-Behmel Syndrome, Type 1
Pectus carinatum, Scoliosis, Short ribs, Vertebral segmentation defect, Pectus excavatum, Six lum... OMIM:312870
Pycnodysostosis
Increased bone mineral density, Osteolytic defects of the distal phalanges of the hand OMIM:265800
Hyperoxaluria, Primary, Type I
Increased bone mineral density, Hyperoxaluria, Pathologic fracture OMIM:259900
Shprintzen-Goldberg Craniosynostosis Syndrome
Lateral clavicle hook, Osteopenia, Genu valgum, C1-C2 vertebral abnormality, Pectus carinatum, Th... OMIM:182212
Alagille Syndrome
Spina bifida occulta, Butterfly vertebral arch, Abnormal form of the vertebral bodies, Vertebral ... ORPHA:52
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Vertebral segmentation defect, Abnormal rib morphology ORPHA:1120
Sanjad-Sakati Syndrome
Hypocalcemia, Hyperphosphatemia, Patchy osteosclerosis ORPHA:2323
Trichothiodystrophy
Increased bone mineral density, Craniosynostosis, Multiple joint contractures, Osteopenia ORPHA:33364
Duane Retraction Syndrome
Spina bifida occulta, Abnormal form of the vertebral bodies, Camptodactyly, Short neck, Abnormal ... ORPHA:233
Multiple Pterygium-Malignant Hyperthermia Syndrome
Abnormal circulating creatine kinase concentration, Scoliosis, Pectus excavatum, Kyphosis, Abnorm... ORPHA:2215
Robinow Syndrome
Kyphoscoliosis, Scoliosis, Hemivertebrae, Missing ribs, Rib fusion, Fused thoracic vertebrae ORPHA:97360
Congenital Disorder Of Glycosylation, Type Iig
Kyphoscoliosis, Butterfly vertebrae, Osteopenia, Vertebral segmentation defect, Posterior rib gap... OMIM:611209
Autosomal Dominant Popliteal Pterygium Syndrome
Popliteal pterygium, Nonketotic hyperglycinemia, Scoliosis, Abnormal rib morphology, Joint stiffness ORPHA:1300
Nestor-Guillermo Progeria Syndrome
Limited elbow movement, Thin ribs, Scoliosis, Osteolytic defects of the distal phalanges of the h... OMIM:614008
Autosomal Recessive Multiple Pterygium Syndrome
Popliteal pterygium, Axillary pterygium, Multiple pterygia, Spina bifida occulta, Pterygium, Abno... ORPHA:2990
Dubowitz Syndrome
Hypocholesterolemia OMIM:223370
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Kyphoscoliosis, Dislocated radial head, Cupped ribs, Joint hypermobility, Pathologic fracture, Hi... OMIM:271640
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Abnormal bone ossification, Generalized bone demineralization, Narrow chest, Abnormal form of the... ORPHA:73230
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Abnormal sternum morphology, Short ribs, Abnormal rib morphology, Broad ribs ORPHA:2519
Osteopetrosis, Autosomal Recessive 3
Cranial hyperostosis, Osteopetrosis, Diaphyseal sclerosis OMIM:259730
Severe Congenital Nemaline Myopathy
Thin ribs, Multiple prenatal fractures, Flexion contracture, Arthrogryposis multiplex congenita, ... ORPHA:171430
Campomelia, Cumming Type
Abnormally ossified vertebrae, Abnormal rib morphology, Abnormal thorax morphology ORPHA:1318
Atypical Werner Syndrome
Hypertriglyceridemia, Reduced bone mineral density, Osteolytic defects of the phalanges of the ha... ORPHA:79474
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Proximal tibial and fibular fusion, Craniosynostosis, Tarsal synostosis, Scoliosis, Elbow flexion... ORPHA:95699
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
Joint hypermobility, Thin ribs ORPHA:456328
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Prominent sternum, Wrist flexion contracture, Pectus excavatum, Camptodactyly, Coat hanger sign o... ORPHA:254528
Pontine Tegmental Cap Dysplasia
Ankle clonus, Scoliosis, Hemivertebrae, Rib fusion OMIM:614688
Duane-Radial Ray Syndrome
Shoulder dislocation, Scoliosis, Fused cervical vertebrae, Spina bifida occulta OMIM:607323
Thakker-Donnai Syndrome
Short neck, Hemivertebrae, Cervical C2/C3 vertebral fusion ORPHA:1780
Kyphomelic Dysplasia
Lateral clavicle hook, Pterygium, Undulate ribs, Flat acetabular roof, Limitation of joint mobili... OMIM:211350
Pyknoachondrogenesis
Short thorax, Enlarged thorax, Short ribs, Abnormal intramembranous ossification, Unossified sacr... ORPHA:3003
Fibrous Dysplasia Of Bone
Abnormal clavicle morphology, Rickets, Abnormal lumbar spine morphology, Bone pain, Scoliosis, Os... ORPHA:249
Acro-Renal-Ocular Syndrome
Vertebral segmentation defect, Vertebral fusion ORPHA:959
Myotubular Myopathy With Abnormal Genital Development
Joint hypermobility, Thin ribs, Neonatal death OMIM:300219
Spondylometaphyseal Dysplasia, Sedaghatian Type
Narrow chest, Abnormal rib morphology, Delayed skeletal maturation, Accelerated skeletal maturati... ORPHA:93317
Frontometaphyseal Dysplasia 2
Fused cervical vertebrae, Dislocated radial head, Scoliosis, Pectus excavatum, Camptodactyly, Con... OMIM:617137
Hurler Syndrome
Abnormal clavicle morphology, Abnormal vertebral morphology, Scoliosis, Limitation of joint mobil... ORPHA:93473
Kagami-Ogata Syndrome
Kyphoscoliosis, Long clavicles, Bell-shaped thorax, Thin ribs, Flexion contracture OMIM:608149
Osteopetrosis, Autosomal Recessive 7
Hypocalcemic seizures, Osteopetrosis, Abnormal trabecular bone morphology, Femur fracture OMIM:612301
Aspergillosis
Osteomyelitis, Abnormal rib morphology, Abnormality of the vertebral column ORPHA:1163
Mucopolysaccharidosis, Type Vi
Kyphoscoliosis, Genu valgum, Anterior wedging of L2, Avascular necrosis, Pectus carinatum, Hypopl... OMIM:253200
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Platyspondyly, Thin ribs ORPHA:163966
Smith-Lemli-Opitz Syndrome
Epiphyseal stippling, Elevated circulating 7-dehydrocholesterol concentration, Failure to thrive,... OMIM:270400
Osteogenesis Imperfecta
Reduced bone mineral density, Abnormal form of the vertebral bodies, Dislocated radial head, Pect... ORPHA:666
Thrombocytopenia-Absent Radius Syndrome
Lateral clavicle hook, Carpal bone hypoplasia, Abnormal shoulder morphology, Fused cervical verte... OMIM:274000
Cardiospondylocarpofacial Syndrome
Tarsal synostosis, Fused cervical vertebrae, Scoliosis, Fusion of middle ear ossicles, Delayed sk... OMIM:157800
Osteogenesis Imperfecta, Type Vii
Osteopenia, Vertebral compression fracture, Narrow chest, Recurrent fractures, Scoliosis, Delayed... OMIM:610682
Primary Hyperoxaluria
Generalized osteosclerosis, Failure to thrive, Recurrent fractures, Hyperoxaluria ORPHA:416
Tetraamelia-Multiple Malformations Syndrome
Missing ribs, Abnormally ossified vertebrae, Abnormal rib morphology ORPHA:3301
Ellis-Van Creveld Syndrome
Genu valgum, Narrow chest, Pectus carinatum, Short ribs, Acetabular spurs, Horizontal ribs, Capit... OMIM:225500
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Osteopenia, Abnormal bone ossification, Lumbar hemivertebrae, Thin ribs, Pectus excavatum, Delaye... ORPHA:2463
Gaucher Disease Type 3
Increased bone mineral density, Osteolysis, Increased susceptibility to fractures ORPHA:77261
Van Den Ende-Gupta Syndrome
Lateral clavicle hook, Sacral dimple, Camptodactyly of 2nd-5th fingers, Glenoid fossa hypoplasia,... OMIM:600920
Radio-Renal Syndrome
Abnormality of the elbow, Short neck, Abnormal rib morphology, Abnormal form of the vertebral bodies ORPHA:3015
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Thin ribs, Flexion contracture OMIM:614833
Acrorenal-Mandibular Syndrome
Kyphoscoliosis, Butterfly vertebrae, Narrow chest, Thin ribs, Hemivertebrae, Elbow flexion contra... OMIM:200980
Vacterl/Vater Association
Abnormal sacrum morphology, Abnormal intervertebral disk morphology, Abnormal rib morphology, Ver... ORPHA:887
Oculocerebrocutaneous Syndrome
Missing ribs, Abnormal rib morphology, Congenital hip dislocation ORPHA:1647
Premature Aging Syndrome, Penttinen Type
Scoliosis, Thin ribs, Delayed cranial suture closure, Osteolytic defects of the distal phalanges ... OMIM:601812
Apert Syndrome
Vertebral segmentation defect, Cervical C5/C6 vertebrae fusion ORPHA:87
Hyperparathyroidism, Transient Neonatal
Osteopenia, Narrow chest, Thin ribs, Short ribs, Undulate ribs, Fractured rib, Wide cranial sutur... OMIM:618188
Monosomy 9Q22.3
Abnormality of the vertebral column, Metopic synostosis, Pectus excavatum, Kyphosis, Abnormal rib... ORPHA:77301
Blomstrand Lethal Chondrodysplasia
Increased bone mineral density, Synostosis of joints ORPHA:50945
Lenz-Majewski Hyperostotic Dwarfism
Spina bifida occulta, Broad clavicles, Hyperextensibility of the finger joints, Hemivertebrae, El... OMIM:151050
Xylt1-Cdg
Joint dislocation, Short clavicles, Accelerated skeletal maturation, Joint hypermobility, Broad ribs ORPHA:370930
Acrocapitofemoral Dysplasia
Narrow chest, Pectus carinatum, Scoliosis, Short ribs, Delayed ossification of carpal bones, Cupp... OMIM:607778
Trisomy 1Q
Short thorax, Camptodactyly of finger, Abnormal rib morphology ORPHA:261344
Proximal 16P11.2 Microdeletion Syndrome
Craniosynostosis, Scoliosis, Abnormal vertebral morphology, Rib fusion ORPHA:261197
Lethal Congenital Contracture Syndrome 10
Stiff neck, Narrow chest, Thoracic scoliosis, Short neck, Broad ribs OMIM:617022
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia
Increased bone mineral density, Coarse metaphyseal trabecularization, Thickened cortex of long bones OMIM:620558
Mucopolysaccharidosis, Type Iiid
Elbow flexion contracture, Joint stiffness, Ovoid thoracolumbar vertebrae, Hypoplastic vertebral ... OMIM:252940
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Hypotriglyceridemia, Scoliosis, Cupped ribs, Ovoid vertebral bodies, Platyspondyly ORPHA:85167
Cerebrocostomandibular Syndrome
Anomalous rib insertion to vertebrae, 10 pairs of ribs, Bell-shaped thorax, 11 pairs of ribs, Rib... OMIM:117650
Cleidocranial Dysplasia 1
Increased bone mineral density, Delayed pubic bone ossification, Increased susceptibility to frac... OMIM:119600
Gracile Bone Dysplasia
Hypocalcemia, Thin ribs, Decreased skull ossification OMIM:602361
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Long clavicles, Fused cervical vertebrae, Thin ribs, Cleft vertebral arch, Coronal craniosynostos... ORPHA:83617
Chops Syndrome
Cervical C2/C3 vertebral fusion, Tracheomalacia OMIM:616368
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Lateral clavicle hook, Scoliosis, Short ribs, Acetabular spurs, Thoracic hypoplasia, Horizontal ribs OMIM:613091
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Lateral clavicle hook, Narrow chest, Pectus carinatum, Short ribs, Thoracic dysplasia, Platyspond... OMIM:263520
Autosomal Recessive Malignant Osteopetrosis
Osteopetrosis, Reduced bone mineral density, Hypocalcemia, Hypophosphatemia, Craniosynostosis, Re... ORPHA:667
Sclerosteosis 1
Broad clavicles, Sclerotic vertebral endplates, Sclerotic scapulae, Broad ribs OMIM:269500
Stuve-Wiedemann Syndrome 1
Talipes valgus, Flexion contracture of toe, Scoliosis, Thin ribs, Elbow flexion contracture, Camp... OMIM:601559
Campomelic Dysplasia
Kyphoscoliosis, Absent sternal ossification, Dislocated radial head, Pectus carinatum, Tracheobro... OMIM:114290
Chromosome 16P13.3 Duplication Syndrome
Sacral dimple, Tracheobronchomalacia, Pectus excavatum, Camptodactyly, Cervical C5/C6 vertebrae f... OMIM:613458
Short-Rib Thoracic Dysplasia 12
Narrow chest, Short thorax, Short ribs, Thoracic dysplasia, Neonatal death, Horizontal ribs, Shor... OMIM:269860
Williams Syndrome
Osteopenia, Abnormal circulating lipid concentration, Increased bone mineral density, Elevated ci... ORPHA:904
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Lateral clavicle hook, Narrow chest, Early ossification of capital femoral epiphyses, Short ribs,... OMIM:208500
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Scoliosis, Cupped ribs, Joint stiffness, Ovoid vertebral bodies, Severe platyspondyly, Platyspondyly OMIM:608940
Kagami-Ogata Syndrome
Kyphoscoliosis, Bell-shaped thorax, Limitation of joint mobility, Coat hanger sign of ribs, Thora... ORPHA:254519
Autosomal Dominant Centronuclear Myopathy
Mildly elevated creatine kinase, Thin ribs ORPHA:169189
Heterotaxy, Visceral, 1, X-Linked
Block vertebrae, Absence of the sacrum, Congenital hip dislocation OMIM:306955
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Lateral clavicle hook, Narrow chest, Short ribs, Decreased calvarial ossification, Short neck, Ne... OMIM:617925
Alpha-Mannosidosis, Infantile Form
Talipes valgus, Osteopenia, Genu valgum, Joint hypermobility, Craniosynostosis, Avascular necrosi... ORPHA:309282
Cog1-Cdg
Kyphoscoliosis, Butterfly vertebrae, Osteopenia, Vertebral segmentation defect, Posterior rib gap... ORPHA:263508
Mucopolysaccharidosis Type 3
Abnormal clavicle morphology, Genu valgum, Reduced bone mineral density, Abnormal form of the ver... ORPHA:581
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Coat hanger sign of ribs, Thoracic hypoplasia ORPHA:254534
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Kyphoscoliosis, Short ribs, Pectus excavatum, Thoracic hypoplasia, Long clavicles, Scoliosis, Hem... ORPHA:96334
Osteopathia Striata With Cranial Sclerosis
Flexion contracture of toe, Straight clavicles, Spina bifida occulta, Tracheomalacia, Scoliosis, ... OMIM:300373
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Stillbirth, Bell-shaped thorax, Narrow chest, Unicoronal synostosis, Short ribs, Flat acetabular ... OMIM:616300
Spondylometaphyseal Dysplasia, Sedaghatian Type
11 pairs of ribs, Narrow chest, Delayed epiphyseal ossification, Short ribs, Flat acetabular roof... OMIM:250220
Hallermann-Streiff Syndrome
Decreased number of sternal ossification centers, Tracheomalacia, Thin ribs, Hyperlordosis, Scoli... OMIM:234100
Oculocerebrorenal Syndrome Of Lowe
Genu valgum, Hypokalemia, Arthritis, Scoliosis, Osteomalacia, Kyphosis, Abnormal rib morphology, ... ORPHA:534
Paroxysmal Nocturnal Hemoglobinuria
Increased blood urea nitrogen, Reduced haptoglobin level, Decreased circulating iron concentratio... ORPHA:447
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Kyphoscoliosis, Osteopenia, Platyspondyly, Joint dislocation, Thin ribs, Osteoporosis, Congenital... OMIM:225400
Weill-Marchesani Syndrome 1
Scoliosis, Joint stiffness, Spinal canal stenosis, Broad ribs, Lumbar hyperlordosis OMIM:277600
Femoral-Facial Syndrome
Limited elbow movement, 11 pairs of ribs, Hypoplastic acetabulae, Scoliosis, Hemivertebrae, Missi... OMIM:134780
Camptodactyly Syndrome, Guadalajara Type 3
Osteopenia, Spina bifida occulta, Abnormal rib morphology, Delayed skeletal maturation, Short neck ORPHA:488434
Osteopetrosis With Renal Tubular Acidosis
Osteopetrosis, Hypocalcemia, Elevated circulating creatine kinase concentration, Failure to thriv... ORPHA:2785
Mandibuloacral Dysplasia Progeroid Syndrome
Osteopenia, Hypertriglyceridemia, Genu valgum, Osteolytic defects of the phalanges of the hand, T... OMIM:619127
Autosomal Recessive Robinow Syndrome
Sacral dimple, Pectus carinatum, Scoliosis, Vertebral segmentation defect, Pectus excavatum, Kyph... ORPHA:1507
Fetal Akinesia Deformation Sequence 1
Stillbirth, Thin ribs, Wrist flexion contracture, Congenital contracture, Camptodactyly of finger... OMIM:208150
Eiken Syndrome
Delayed epiphyseal ossification, Delayed ossification of carpal bones, Flat acetabular roof, Dela... OMIM:600002
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Barrel-shaped chest, Carpal bone aplasia, Pectus carinatum, Broad clavicles, Hemivertebrae, Promi... OMIM:276820
Wolf-Hirschhorn Syndrome
Sacral dimple, Abnormal vertebral morphology, Abnormality of the vertebral column, Abnormal form ... ORPHA:280
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Hip subluxation, Abnormal vertebral morphology, Cervical C2/C3 vertebral fusion, Tracheomalacia, ... ORPHA:444077
Weill-Marchesani Syndrome 2
Flexion contracture of toe, Scoliosis, Elbow flexion contracture, Joint stiffness, Spinal canal s... OMIM:608328
Ear-Patella-Short Stature Syndrome
Abnormal rib morphology, Delayed skeletal maturation, Camptodactyly of finger, Patellar aplasia, ... ORPHA:2554
Schinzel-Giedion Midface Retraction Syndrome
Long clavicles, Wormian bones, Hypoplasia of first ribs, Short sternum, Metopic suture patent to ... OMIM:269150
Myhre Syndrome
Platyspondyly, Joint stiffness, Abnormal rib morphology ORPHA:2588
Dextrocardia
Abnormal rib morphology, Congenital hip dislocation ORPHA:1666
Pseudo-Torch Syndrome 2
Thin ribs OMIM:617397
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Popliteal pterygium, Patellar hypoplasia, Craniosynostosis, Dislocated radial head, Short clavicl... OMIM:609945
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Sacral dimple, Rib fusion ORPHA:544488
Monosomy 9P
Abnormality of the vertebral column, Scoliosis, Limitation of joint mobility, Abnormal rib morpho... ORPHA:261112
Cranioectodermal Dysplasia 2
Narrow chest, Craniosynostosis, Metopic synostosis, Hyperbilirubinemia, Short ribs, Pectus excava... OMIM:613610
Alagille Syndrome 1
Hypertriglyceridemia, Butterfly vertebral arch, Hemivertebrae, Abnormal rib morphology, Hyperchol... OMIM:118450
Smith-Lemli-Opitz Syndrome
Abnormal form of the vertebral bodies, Scoliosis, Kyphosis, Abnormal rib morphology, Elevated cir... ORPHA:818
Pallister-Hall Syndrome
Hemivertebrae, Radial head subluxation, Neonatal death, Rib fusion, Hip dislocation OMIM:146510
Generalized Arterial Calcification Of Infancy
Stippled calcification of the elbow, Hypophosphatemic rickets, Fused cervical vertebrae, Abnormal... ORPHA:51608
Elsahy-Waters Syndrome
Pectus excavatum, Cervical C2/C3 vertebral fusion OMIM:211380
Zttk Syndrome
Cervical ribs, Scoliosis, Hemivertebrae, Kyphosis, Flexion contracture, Rib fusion, Joint hypermo... OMIM:617140
Holt-Oram Syndrome
Limited elbow extension, Abnormal carpal morphology, Sacral dimple, 11 pairs of ribs, Narrow ches... OMIM:142900
Craniofacial Microsomia 1
Genu valgum, Scoliosis, Hemivertebrae, Vertebral hypoplasia, Block vertebrae, Cervical ribs OMIM:164210
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Limited elbow extension, Genu valgum, Hyperlordosis, Broad ribs, Hip dislocation OMIM:301066
Hereditary Acrokeratotic Poikiloderma
Joint hypermobility, Camptodactyly of finger, Abnormal rib morphology ORPHA:2907
Trisomy 18
Camptodactyly of finger, Delayed skeletal maturation, Abnormal rib morphology ORPHA:3380
Ulbright-Hodes Syndrome
Thin ribs, Short ribs, Abnormal rib morphology, Humeroradial synostosis, Short sternum, Ovoid tho... ORPHA:3404
Goodpasture Syndrome
Increased blood urea nitrogen OMIM:233450
Fryns Syndrome
Stillbirth, Thin ribs, Camptodactyly, Thoracic hypoplasia, Short neck, Broad ribs, Joint contract... OMIM:229850
Schinzel-Giedion Syndrome
Abnormal clavicle morphology, Kyphoscoliosis, Stiff elbow, Scoliosis, Wormian bones, Camptodactyl... ORPHA:798
Restrictive Dermopathy
Osteopenia, Thin clavicles, Thin ribs, Thoracic kyphoscoliosis, Decreased skull ossification, Art... ORPHA:1662
Vater/Vacterl Association
Abnormal vertebral morphology, Abnormal sternum morphology, Scoliosis, Abnormal rib morphology, R... OMIM:192350
Baller-Gerold Syndrome
Limited elbow movement, Abnormal vertebral morphology, Lambdoidal craniosynostosis, Patellar hypo... OMIM:218600
Mucopolysaccharidosis Type 2, Severe Form
Abnormal vertebral morphology, Arthritis, Limitation of joint mobility, Camptodactyly of finger, ... ORPHA:217085
Craniotubular Dysplasia, Ikegawa Type
Platyspondyly, Increased intervertebral space, Broad ribs, Sclerosis of skull base OMIM:619727
Mucopolysaccharidosis Type 2, Attenuated Form
Abnormal vertebral morphology, Arthritis, Limitation of joint mobility, Camptodactyly of finger, ... ORPHA:217093
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Aplasia of the epiglottis, Narrow chest, Short clavicles, Short ribs, Horizontal ribs OMIM:617088
1P36 Deletion Syndrome
11 pairs of ribs, Scoliosis, Delayed cranial suture closure, Kyphosis, Rib fusion, Joint stiffnes... ORPHA:1606
Coccidioidomycosis
Abnormality of the vertebral column, Arthritis, Osteomyelitis, Broad ribs, Osteolysis ORPHA:228123
Kindler Epidermolysis Bullosa
Camptodactyly of finger, Flexion contracture, Abnormal rib morphology ORPHA:2908
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Kyphoscoliosis, Hyperextensible hand joints, Hemivertebrae, Hyperextensibility at elbow, Rib fusi... ORPHA:500150
Charge Syndrome
Abnormality of bone mineral density, Scoliosis, Hemivertebrae, Abnormal rib morphology ORPHA:138
Wiedemann-Rautenstrauch Syndrome
Hypertriglyceridemia, Narrow chest, Scoliosis, Thin ribs, Flexion contracture, Short neck, Widely... OMIM:264090
Pagod Syndrome
Abnormal clavicle morphology, Abnormal rib morphology ORPHA:991
Charge Syndrome
Hypocalcemia, Scoliosis, Hemivertebrae, Abnormal rib morphology, Radial head subluxation, Down-sl... OMIM:214800
Chromosome 1P36 Deletion Syndrome, Distal
11 pairs of ribs, Scoliosis, Camptodactyly, Rib fusion, Camptodactyly of finger, Delayed skeletal... OMIM:607872
Fraser Syndrome
Vertebral segmentation defect, Abnormal rib morphology ORPHA:2052
Pallister-Hall Syndrome
Hemivertebrae, Radial head subluxation, Distal arthrogryposis, Rib fusion, Hip dislocation ORPHA:672
Townes-Brocks Syndrome
Abnormal vertebral morphology, Abnormal rib 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 Dscc1

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 Dscc1.

There are 4 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Dscc1tm1a(KOMP)Wtsi PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Dscc1tm1a(KOMP)Wtsi Dscc1tm1a(KOMP)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Dscc1tm1a(KOMP)Wtsi Dscc1tm1a(KOMP)Wtsi PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation. Scientific data (September 2017) Dscc1tm1a(KOMP)Wtsi PMC5827107

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MGI Allele Allele Type Produced
Dscc1tm42166(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Dscc1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Dscc1tm42166(L1L2_Pgk_PM) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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