Monocyte Chemotactic Disorder |
|
Cutaneous anergy |
OMIM:252250 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Pa Polymorphism Of Alpha-2-Globulin |
|
Abnormal immunoglobulin level |
OMIM:260100 |
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis |
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Posterior fusion of lumbosacral vertebrae |
OMIM:192800 |
Microcephaly With Cervical Spine Fusion Anomalies |
|
Vertebral fusion, Spinal instability |
OMIM:251250 |
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
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Joint stiffness, Posterior fusion of lumbosacral vertebrae, Abnormal form of the vertebral bodies... |
ORPHA:2064 |
Sacral Agenesis With Vertebral Anomalies |
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Abnormal vertebral morphology, Absence of the sacrum |
OMIM:615709 |
Familial Scheuermann Disease |
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Kyphosis, Abnormal form of the vertebral bodies |
ORPHA:3135 |
Multiple Synostoses Syndrome 2 |
|
Carpal synostosis, Vertebral fusion, Proximal symphalangism, Tarsal synostosis, Humeroradial syno... |
OMIM:610017 |
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Type II diabetes mellitus, Scoliosis, Fused cervical vertebrae, Abnormal sacrum morphology, Thora... |
ORPHA:1436 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
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Vertebral segmentation defect, Kyphoscoliosis, Back pain, Hemivertebrae, Short neck, Block verteb... |
OMIM:277300 |
Klippel-Feil Syndrome 3, Autosomal Dominant |
|
Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion, Thoracic scoliosis |
OMIM:613702 |
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
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Glucose intolerance, Prominent metopic ridge, Scoliosis, Fused cervical vertebrae, Thoracic hemiv... |
OMIM:309620 |
Spondylocostal Dysostosis 6, Autosomal Recessive |
|
Spinal canal stenosis, Butterfly vertebrae, Hemivertebrae, Scoliosis, Cervical kyphosis |
OMIM:616566 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Flexion contracture, Fused thoracic vertebrae, Short neck, Scoliosis, Fused cervical vertebrae, T... |
OMIM:618469 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Abnormality of T cell physiology |
OMIM:308220 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral segmentation defect, Hemivertebrae, Spina bifida occulta, Block vertebrae, Abnormality ... |
OMIM:613686 |
Spondylocostal Dysostosis 5 |
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Butterfly vertebrae, Hemivertebrae, Short neck, Scoliosis, Low back pain, Vertebral fusion |
OMIM:122600 |
Primary Basilar Invagination |
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Abnormal vertebral morphology, Short neck, Abnormality of the cervical spine |
ORPHA:2285 |
Osteoarthritis With Mild Chondrodysplasia |
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Irregular vertebral endplates, Joint stiffness, Beaking of vertebral bodies, Platyspondyly, Hip o... |
OMIM:604864 |
Symbrachydactyly Of Hands And Feet |
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Vertebral segmentation defect, Maternal diabetes, Scoliosis, Abnormality of the humeroulnar joint |
ORPHA:1570 |
Dextrocardia With Unusual Facies And Microphthalmia |
|
Vertebral segmentation defect, Vertebral fusion |
OMIM:221950 |
Second Metatarsal-Metacarpal Syndrome |
|
Platyspondyly, Synostosis of carpals/tarsals |
OMIM:269630 |
Osteomesopyknosis |
|
Kyphosis, Increased bone mineral density, Scoliosis, Abnormal form of the vertebral bodies, Scler... |
ORPHA:2777 |
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
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Cervical vertebral bodies with decreased anteroposterior diameter, Fusion of midcervical facet jo... |
OMIM:606842 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
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Carpal synostosis, Hip contracture, Multiple pterygia, Spondylolisthesis, Craniosynostosis, Hemiv... |
OMIM:178110 |
Spondyloepiphyseal Dysplasia Tarda, Kohn Type |
|
Platyspondyly, Abnormality of the ankles, Abnormal vertebral morphology, Restricted large joint m... |
ORPHA:163665 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Vertebral segmentation defect, Vertebral fusion, Sacral dimple |
OMIM:618845 |
Diaphanospondylodysostosis |
|
Abnormal vertebral segmentation and fusion, Short neck, Absent or minimally ossified vertebral bo... |
ORPHA:66637 |
Candidiasis, Familial, 1 |
|
Cutaneous anergy |
OMIM:114580 |
Acrodysplasia Scoliosis |
|
Vertebral segmentation defect, Scoliosis, Spina bifida occulta |
ORPHA:2956 |
Brachydactyly, Type B1 |
|
Joint contracture of the hand, Hypoplastic sacrum, Hemivertebrae, Delayed cranial suture closure,... |
OMIM:113000 |
Wildervanck Syndrome |
|
Fused cervical vertebrae |
OMIM:314600 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Cervical C2/C3 vertebral fusion, Fused cervical vertebrae, Short neck, Scoliosis |
OMIM:214300 |
Keratoconus Posticus Circumscriptus |
|
Abnormal vertebral segmentation and fusion, Short neck, Limited elbow extension and supination |
OMIM:244600 |
Isolated Klippel-Feil Syndrome |
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Cervical C2/C3 vertebral fusion, Abnormal vertebral segmentation and fusion, Abnormality of the v... |
ORPHA:2345 |
Verheij Syndrome |
|
Hemivertebrae, Short neck, Scoliosis, Hip dislocation, Vertebral fusion |
OMIM:615583 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Vertebral segmentation defect, Kyphosis, Supernumerary vertebral ossification centers, Scoliosis,... |
OMIM:609813 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:610021 |
Short Stature Due To Partial Ghr Deficiency |
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Hypoglycemia, Delayed skeletal maturation |
ORPHA:314802 |
Asymmetric Short Stature Syndrome |
|
Lumbar scoliosis, Fused cervical vertebrae |
OMIM:108450 |
Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Vertebral segmentation defect, Hemivertebrae, Short neck, Vertebral clefting |
OMIM:608681 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Kyphosis, Scoliosis, Hyperlordosis, Vertebral fusion, Achilles tendon contracture |
OMIM:606612 |
Spondylosis, Cervical |
|
Spondylolisthesis, Spondylolysis, Osteoarthritis, Spina bifida occulta, Cervical spondylosis |
OMIM:184300 |
Insulin Autoimmune Syndrome |
|
Hyperinsulinemic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Nonketotic hypoglycemia... |
ORPHA:411593 |
Hyperinsulinism Due To Insr Deficiency |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia, Fasting hyperinsulinemia, Insulin resistance, Recurr... |
ORPHA:263458 |
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin |
|
Decreased circulating IgA level |
OMIM:235500 |
Spinal Dysplasia, Anhalt Type |
|
Osteoarthritis of the small joints of the hand, Spinal dysplasia, Thoracolumbar scoliosis, Absent... |
OMIM:601344 |
Dysspondyloenchondromatosis |
|
Enlarged joints, Vertebral segmentation defect, Kyphoscoliosis, Joint dislocation, Generalized jo... |
ORPHA:85198 |
Familial Congenital Mirror Movements |
|
Fused cervical vertebrae |
ORPHA:238722 |
Developmental And Speech Delay Due To Sox5 Deficiency |
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Butterfly vertebrae, Lumbar hyperlordosis, Scoliosis, Thoracic kyphoscoliosis, Vertebral fusion |
ORPHA:313892 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Vertebral segmentation defect, Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the... |
ORPHA:3109 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
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Kyphosis, Hypoplastic vertebral bodies, Hemivertebrae, Scoliosis, Abnormal form of the vertebral ... |
ORPHA:2916 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
Isolated Growth Hormone Deficiency, Type Ia |
|
Persistent open anterior fontanelle, Hypoglycemia |
OMIM:262400 |
Osteogenesis Imperfecta, Type Vi |
|
Beaking of vertebral bodies, Biconcave vertebral bodies, Protrusio acetabuli, Joint laxity, Incre... |
OMIM:613982 |
Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
Reticular Dysgenesis |
|
Lack of T cell function, Impaired T cell function |
OMIM:267500 |
Alkaptonuria |
|
Kyphosis, Intervertebral disc degeneration, Arthritis, Limitation of knee mobility, Low back pain... |
OMIM:203500 |
Kbg Syndrome |
|
Vertebral fusion, Short neck, Scoliosis, Thoracic kyphosis, Persistent open anterior fontanelle, ... |
ORPHA:2332 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Platyspondyly, Short neck, Biconcave vertebral bodies, Genu valgum, Intervertebral space narrowin... |
ORPHA:93315 |
Gorlin Syndrome |
|
Hemivertebrae, Vertebral wedging, Scoliosis, Vertebral fusion |
ORPHA:377 |
Wildervanck Syndrome |
|
Fused cervical vertebrae, Short neck |
ORPHA:3456 |
Multiple Pterygium Syndrome, X-Linked |
|
Multiple pterygia, Joint dislocation, Flexion contracture, Abnormal cervical curvature, Increased... |
OMIM:312150 |
Otopalatodigital Syndrome Type 1 |
|
Increased bone mineral density, Abnormal vertebral segmentation and fusion, Synostosis of carpal ... |
ORPHA:90650 |
Pituitary Hormone Deficiency, Combined, 4 |
|
Hypoglycemia, Marked delay in bone age |
OMIM:262700 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Kyphosis, Scoliosis, Hyperlordosis, Vertebral fusion, Achilles tendon contracture |
OMIM:607155 |
Ring Chromosome 21 Syndrome |
|
Thoracic hemivertebrae, Scoliosis, Fused thoracic vertebrae |
ORPHA:1445 |
Multiple Pterygium Syndrome, Lethal Type |
|
Multiple pterygia, Joint dislocation, Flexion contracture, Abnormal cervical curvature, Increased... |
OMIM:253290 |
Kniest Dysplasia |
|
Enlarged joints, Joint stiffness, Laryngotracheomalacia, Flexion contracture of finger, Anterior ... |
ORPHA:485 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Cervical C2/C3 vertebral fusion, Short neck, Scoliosis, Abnormal vertebral segmentation and fusion |
OMIM:118100 |
Caspase 8 Deficiency |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:607271 |
Sprengel Deformity |
|
Hemivertebrae, Cervical segmentation defect, Scoliosis, Spina bifida occulta |
OMIM:184400 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Cutaneous anergy |
OMIM:183350 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:601820 |
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Cervical C2/C3 vertebral fusion, Flexion contracture, Short neck, Thoracolumbar scoliosis, Acetab... |
OMIM:616549 |
Polydactyly, Postaxial, With Dental And Vertebral Anomalies |
|
Spinal canal stenosis, Kyphoscoliosis, Hypoplastic vertebral bodies, Hemivertebrae, Tarsal synost... |
OMIM:263540 |
Aarskog-Scott Syndrome |
|
Genu recurvatum, Abnormal vertebral segmentation and fusion, Camptodactyly of finger, Short neck,... |
ORPHA:915 |
Fibrodysplasia Ossificans Progressiva |
|
Ectopic ossification in tendon tissue, Scoliosis, Ectopic ossification in muscle tissue, Ectopic ... |
OMIM:135100 |
Caudal Regression Syndrome |
|
Joint stiffness, Hypoplastic vertebral bodies, Abnormal vertebral segmentation and fusion, Scolio... |
ORPHA:3027 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Fused cervical vertebrae, Kyphosis, Short neck, Hyperlordosis |
ORPHA:2522 |
Spondylocarpotarsal Synostosis Syndrome |
|
Vertebral segmentation defect, Carpal synostosis, C2-C3 subluxation, Vertebral fusion, Short neck... |
OMIM:272460 |
Lateral Meningocele Syndrome |
|
Kyphosis, Sclerosis of skull base, Short neck, Biconcave vertebral bodies, Scoliosis, Wormian bon... |
OMIM:130720 |
Stapes Ankylosis With Broad Thumbs And Toes |
|
Fused cervical vertebrae, Proximal/middle symphalangism of 5th finger |
OMIM:184460 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hypoglycemia, Impaired gluconeogenesis |
OMIM:261650 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Supernumerary vertebrae, Hemivertebrae, Short neck, Scoliosis, Block vertebrae, Vertebral fusion |
OMIM:271520 |
Frontometaphyseal Dysplasia 1 |
|
Cervical C2/C3 vertebral fusion, Carpal synostosis, Dislocated radial head, Craniosynostosis, Inc... |
OMIM:305620 |
Lamb-Shaffer Syndrome |
|
Fused cervical vertebrae, Thoracic kyphosis, Scoliosis |
ORPHA:530983 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Cervical C2/C3 vertebral fusion, Thoracic scoliosis, Knee dislocation, Generalized joint laxity, ... |
OMIM:618000 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Anterior vertebral fusion, Shoulder dislocation, Genu varum, Radioulnar synostosis, Elbow disloca... |
OMIM:171480 |
Koolen-De Vries Syndrome |
|
Vertebral segmentation defect, Kyphosis, Scoliosis, Hip dislocation, Vertebral fusion, Joint hype... |
ORPHA:96169 |
Chromosome 8Q22.1 Duplication Syndrome |
|
Cervical C2/C3 vertebral fusion, Joint stiffness, Genu recurvatum, Enlarged interphalangeal joint... |
OMIM:151200 |
Mosaic Trisomy 20 |
|
Spinal canal stenosis, Vertebral segmentation defect, Kyphosis, Limited pronation/supination of f... |
ORPHA:1724 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Short neck, Pterygium, Anterior clefting of vertebral bodies, Flexio... |
OMIM:265000 |
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Cervical C2/C3 vertebral fusion |
ORPHA:370010 |
Koolen-De Vries Syndrome |
|
Kyphosis, Spondylolisthesis, Prominent metopic ridge, Scoliosis, Joint hypermobility, Hip disloca... |
OMIM:610443 |
Immunodeficiency, Common Variable, 1 |
|
Decreased circulating IgA level, Impaired T cell function, Decreased circulating total IgM, Decre... |
OMIM:607594 |
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
|
Joint swelling, Osteomyelitis, Osteopenia, Fused cervical vertebrae, Osteolysis |
OMIM:612852 |
Immunodeficiency, Common Variable, 2 |
|
Decreased circulating IgA level, Partial absence of specific antibody response to unconjugated pn... |
OMIM:240500 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Postprandial hyperglycemia, Hyperinsulinemia, Diabetic ketoacidosis, Hypoglycemia, Insulin-resist... |
OMIM:262190 |
Basal Cell Nevus Syndrome |
|
Kyphoscoliosis, Hemivertebrae, Vertebral fusion, Scoliosis, Irregular ossification of hand bones,... |
OMIM:109400 |
Otopalatodigital Syndrome Type 2 |
|
Carpal synostosis, Increased bone mineral density, Abnormal vertebral segmentation and fusion, Ca... |
ORPHA:90652 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Beaking of vertebral bodies, Craniosynostosis, Hyperextensibility of the finger joints, Hemiverte... |
OMIM:213980 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Fused cervical vertebrae, Butterfly vertebrae, Spina bifida occulta |
OMIM:619227 |
Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia/Hypoplasia of the patella, Scoliosis, Genu varum, Fused cervical vertebrae, Hip dislocati... |
ORPHA:3320 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Dislocated radial head, Hypoplastic sacrum, Hemivertebrae, Vertebral fusion, Short neck, Scoliosi... |
OMIM:268310 |
Kbg Syndrome |
|
Vertebral fusion, Short neck, Vertebral arch anomaly, Thoracic kyphosis, Delayed skeletal maturation |
OMIM:148050 |
Microphthalmia, Syndromic 3 |
|
Hemivertebrae, Vertebral fusion, Vertebral hypoplasia, Butterfly vertebrae |
OMIM:206900 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Cervical C2/C3 vertebral fusion, Lumbar hyperlordosis, Lumbar scoliosis |
OMIM:617796 |
Fanconi Anemia, Complementation Group I |
|
Fused cervical vertebrae, Short neck |
OMIM:609053 |
Arnold-Chiari Malformation Type I |
|
Cervical C2/C3 vertebral fusion, Scoliosis, Fused cervical vertebrae, Stiff neck, Anteriorly plac... |
ORPHA:268882 |
Frontometaphyseal Dysplasia |
|
Dislocated radial head, Sclerosis of skull base, Joint contracture of the hand, Limitation of mov... |
ORPHA:1826 |
Duane Retraction Syndrome |
|
Abnormal vertebral segmentation and fusion, Short neck, Abnormal form of the vertebral bodies, Sp... |
ORPHA:233 |
Sifrim-Hitz-Weiss Syndrome |
|
Fused cervical vertebrae, Flat acetabular roof, Wormian bones |
OMIM:617159 |
Simpson-Golabi-Behmel Syndrome |
|
Vertebral segmentation defect, Accelerated skeletal maturation, Camptodactyly of finger, Congenit... |
ORPHA:373 |
Thakker-Donnai Syndrome |
|
Cervical C2/C3 vertebral fusion, Hemivertebrae, Short neck |
ORPHA:1780 |
Atelosteogenesis, Type I |
|
Knee dislocation, Short neck, Fused cervical vertebrae, Vertebral hypoplasia, Coronal cleft verte... |
OMIM:108720 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Lack of T cell function, Increased circulating IgE level |
ORPHA:277 |
Faciodigitogenital Syndrome, Autosomal Recessive |
|
Vertebral fusion, Hyperextensible hand joints, Camptodactyly |
OMIM:227330 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Increased circulating IgA level... |
OMIM:308230 |
Myhre Syndrome |
|
Joint stiffness, Platyspondyly, Short neck, Enlarged vertebral pedicles, Camptodactyly, Vertebral... |
OMIM:139210 |
Acro-Renal-Ocular Syndrome |
|
Vertebral segmentation defect, Vertebral fusion |
ORPHA:959 |
Aicardi Syndrome |
|
Block vertebrae, Hemivertebrae, Butterfly vertebrae, Scoliosis |
OMIM:304050 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Thoracic scoliosis, Generalized joint laxity, Shoulder subluxation, Short neck, Hypermobility of ... |
ORPHA:508498 |
Aicardi Syndrome |
|
Block vertebrae, Butterfly vertebrae, Scoliosis |
ORPHA:50 |
Duane-Radial Ray Syndrome |
|
Fused cervical vertebrae, Spina bifida occulta, Scoliosis, Shoulder dislocation |
OMIM:607323 |
Apert Syndrome |
|
Delayed epiphyseal ossification, Cervical C5/C6 vertebrae fusion, Craniosynostosis, Coronal crani... |
OMIM:101200 |
Wolf-Hirschhorn Syndrome |
|
Kyphosis, Abnormal sternal ossification, Vertebral fusion, Scoliosis, Abnormal form of the verteb... |
OMIM:194190 |
Apert Syndrome |
|
Vertebral segmentation defect, Cervical C5/C6 vertebrae fusion |
ORPHA:87 |
Robinow Syndrome |
|
Kyphoscoliosis, Fused thoracic vertebrae, Hemivertebrae, Scoliosis, Radioulnar dislocation |
ORPHA:97360 |
Frontometaphyseal Dysplasia 2 |
|
Hip contracture, Dislocated radial head, Congenital hip dislocation, Scoliosis, Camptodactyly, Fu... |
OMIM:617137 |
Cardiospondylocarpofacial Syndrome |
|
Carpal synostosis, Scoliosis, Fused cervical vertebrae, Joint laxity, Tarsal synostosis, Joint hy... |
OMIM:157800 |
Chops Syndrome |
|
Cervical C2/C3 vertebral fusion, Tracheomalacia |
OMIM:616368 |
Thrombocytopenia-Absent Radius Syndrome |
|
Carpal synostosis, Genu varum, Carpal bone hypoplasia, Fused cervical vertebrae, Patellar aplasia... |
OMIM:274000 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Cervical C2/C3 vertebral fusion, Tracheomalacia, Wormian bones, Hip subluxation, Abnormal vertebr... |
ORPHA:444077 |
Heterotaxy, Visceral, 1, X-Linked |
|
Block vertebrae, Congenital hip dislocation, Absence of the sacrum |
OMIM:306955 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Fused cervical vertebrae, Contracture of the distal interphalangeal joint of the fingers, Cleft v... |
ORPHA:83617 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Lack of T cell function, Decreased lymphocyte proliferation in response to mitogen, Decreased cir... |
ORPHA:35078 |
Wiskott-Aldrich Syndrome, Autosomal Dominant |
|
Decreased specific anti-polysaccharide antibody level, Increased circulating IgA level, Abnormal ... |
OMIM:600903 |
Orotic Aciduria |
|
Impaired T cell function |
OMIM:258900 |
Generalized Arterial Calcification Of Infancy |
|
Hypophosphatemic rickets, Osteomalacia, Abnormal calcification of the carpal bones, Fused cervica... |
ORPHA:51608 |
Craniofacial Microsomia |
|
Hemivertebrae, Scoliosis, Genu valgum, Vertebral hypoplasia, Block vertebrae |
OMIM:164210 |
Elsahy-Waters Syndrome |
|
Cervical C2/C3 vertebral fusion |
OMIM:211380 |
Wiskott-Aldrich Syndrome |
|
Decreased specific anti-polysaccharide antibody level, Increased circulating IgA level, Abnormal ... |
OMIM:301000 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Abnormality of T cell physiology |
ORPHA:2237 |
Sarcoidosis, Susceptibility To, 1 |
|
Increased circulating antibody level, Abnormality of T cell physiology |
OMIM:181000 |