| Immunodeficiency 40 |
|
Lymphopenia |
OMIM:616433 |
| Immunodeficiency 18 |
|
Decreased proportion of CD3-positive T cells, Lymphopenia, Defective T cell proliferation |
OMIM:615615 |
| Lymphoid System Deterioration, Progressive |
|
Decreased circulating total IgM, Lymphopenia, Abnormal T cell morphology, Decreased circulating I... |
OMIM:247630 |
| Sacral Agenesis With Vertebral Anomalies |
|
Absence of the sacrum, Abnormal vertebral morphology |
OMIM:615709 |
| Immunodeficiency 24 |
|
Decreased circulating IgG level, Reduced antigen-specific T cell proliferation, Reduced proportio... |
OMIM:615897 |
| Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Slender finger, Kyphosis, Hypoplasia of the odontoid process, Supernumerary vertebral ossificatio... |
OMIM:609813 |
| Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Block vertebrae, Short neck, Severe short stature, Disproportionate short-trunk short stature, Ba... |
OMIM:277300 |
| Familial Scheuermann Disease |
|
Kyphosis, Abnormal form of the vertebral bodies |
ORPHA:3135 |
| Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Vertebral clefting, Short neck, Disproportionate short-trunk short stature, Vertebral segmentatio... |
OMIM:608681 |
| Reticular Dysgenesis |
|
Leukopenia, Lack of T cell function, Congenital agranulocytosis, Impaired T cell function, Hypopl... |
OMIM:267500 |
| Cervical Vertebral Dysplasia |
|
Anterior atlanto-occipital dislocation, Cervical vertebral dysplasia, Cervical vertebral facet hy... |
OMIM:118005 |
| Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Pancytopenia, Splenomegaly, Cutaneous anergy, Decreased helper T cell proportion, Hypersplenism |
OMIM:183350 |
| Immunodeficiency 8 |
|
Lymphopenia |
OMIM:615401 |
| Combined Cellular And Humoral Immune Defects With Granulomas |
|
Decreased circulating IgG level, T lymphocytopenia, B lymphocytopenia |
OMIM:233650 |
| Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Decreased circulating IgG level, T lymphocytopenia |
OMIM:242870 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Missing ribs, Block vertebrae, Short thorax, Abnormal rib morphology, Short stature, Vertebral fu... |
OMIM:613686 |
| Spondylocostal Dysostosis 5 |
|
Missing ribs, Supernumerary ribs, Short neck, Severe short stature, Posterior rib fusion, Disprop... |
OMIM:122600 |
| Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Finger syndactyly, Clinodactyly of the 5th finger, Abnormal rib morphology, Radioulnar synostosis... |
ORPHA:3268 |
| Autosomal Dominant Spondylocostal Dysostosis |
|
Abnormal sacrum morphology, Missing ribs, Short neck, Short thorax, Intrauterine growth retardati... |
ORPHA:1797 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Hypoplasia of the thymus, Lymphopenia, Agammaglobulinemia |
OMIM:200900 |
| Spondylometaphyseal Dysplasia, East African Type |
|
Brachydactyly, Genu varum, Ovoid vertebral bodies, Metaphyseal spurs, Disproportionate short stat... |
OMIM:611702 |
| Immunodeficiency 50 |
|
Neutropenia, Lymphopenia, Decreased circulating antibody level |
OMIM:300988 |
| Chondrocalcinosis Due To Apatite Crystal Deposition |
|
Costochondral pain, Osteoarthritis of the small joints of the hand, Chondrocalcinosis, Costal car... |
OMIM:118610 |
| Poland Syndrome |
|
Short ribs, Unilateral brachydactyly, Sprengel anomaly, Unilateral oligodactyly, Hemivertebrae, R... |
OMIM:173800 |
| Spondylometaphyseal Dysplasia, Type A4 |
|
Metaphyseal sclerosis, Severe short stature, Irregular patellae, Osteoporotic metatarsal, Metaphy... |
OMIM:609052 |
| Heart Defects-Limb Shortening Syndrome |
|
Kyphosis, Abnormal form of the vertebral bodies, Abnormal rib morphology, Disproportionate short ... |
ORPHA:1354 |
| Monocyte Chemotactic Disorder |
|
Cutaneous anergy |
OMIM:252250 |
| Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Increased circulating antibody level, Autoimmune hemolytic anemia, Lymphopenia, Plasmacytosis |
OMIM:247800 |
| Retinal Telangiectasia And Hypogammaglobulinemia |
|
Decreased circulating IgG level, Reduced delayed hypersensitivity |
OMIM:267900 |
| Endosteal Hyperostosis, Worth Type |
|
Clavicular sclerosis, Abnormal form of the vertebral bodies, Craniofacial hyperostosis, Sclerotic... |
ORPHA:2790 |
| Femoral-Facial Syndrome |
|
Abnormal sacrum morphology, Abnormality of pelvic girdle bone morphology, Preaxial foot polydacty... |
ORPHA:1988 |
| Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
T lymphocytopenia |
ORPHA:169095 |
| Kyphomelic Dysplasia |
|
Bowing of the long bones, Anterior rib cupping, Missing ribs, Short thorax, Abnormal form of the ... |
ORPHA:1801 |
| Metatropic Dysplasia |
|
Cupped ribs, Flared humeral metaphysis, Abnormal metaphyseal vascular invasion, Flared femoral me... |
OMIM:156530 |
| Spondylocostal Dysostosis 6, Autosomal Recessive |
|
Cervical kyphosis, Scoliosis, Spinal canal stenosis, Butterfly vertebrae, Hemivertebrae |
OMIM:616566 |
| Immunodeficiency 19 |
|
Lymphopenia |
OMIM:615617 |
| Metatropic Dysplasia |
|
Abnormal cortical bone morphology, Kyphosis, Abnormal form of the vertebral bodies, Camptodactyly... |
ORPHA:2635 |
| Becker Nevus Syndrome |
|
Supernumerary ribs, Kyphosis, Pectus excavatum, Scoliosis, Abnormality of tibia morphology, Pectu... |
ORPHA:64755 |
| Wiskott-Aldrich Syndrome 2 |
|
Defective T cell proliferation, Thrombocytopenia, Reduced natural killer cell activity, Decreased... |
OMIM:614493 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Short neck, Short thorax, Kyphosis, Abnormal form of the vertebral bodies, Camptodactyly of finge... |
ORPHA:2311 |
| Kbg Syndrome |
|
Clinodactyly, Thoracic kyphosis, Cervical ribs, Radial deviation of finger, Syndactyly, Short sta... |
OMIM:148050 |
| Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
|
Genu varum, Severe short stature, Platyspondyly, Irregular femoral epiphysis, Scoliosis, Postnata... |
OMIM:618728 |
| Spondyloepiphyseal Dysplasia Tarda, Kohn Type |
|
Abnormal ilium morphology, Restricted large joint movement, Bilateral coxa valga, Abnormal verteb... |
ORPHA:163665 |
| Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
| Spondylometaphyseal Dysplasia, A4 Type |
|
Short palm, Severe short stature, Platyspondyly, Flared, irregular rib ends, Limitation of joint ... |
ORPHA:168555 |
| Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency |
|
Intrauterine growth retardation, Posterior rib fusion, Pectus excavatum, Abnormal rib cage morpho... |
OMIM:608406 |
| Mesomelic Dysplasia, Kantaputra Type |
|
Synostosis of carpal bones, Clinodactyly of the 5th finger, Abnormality of fibula morphology, Abn... |
ORPHA:1836 |
| Transcobalamin Deficiency |
|
Pancytopenia, Decreased circulating total IgM, Decreased circulating IgG level, Decreased circula... |
ORPHA:859 |
| Klippel-Feil Syndrome 3, Autosomal Dominant |
|
Thoracic scoliosis, Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion |
OMIM:613702 |
| Acromesomelic Dysplasia, Maroteaux Type |
|
Brachydactyly, Bowing of the long bones, Ovoid vertebral bodies, Kyphosis, Abnormal form of the v... |
ORPHA:40 |
| Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Irregular epiphyses, Narrow iliac wing, Bowing of the legs, Hypoplastic pubic bone, Ovoid vertebr... |
OMIM:608728 |
| Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Short stature, Abnormal rib morphology |
ORPHA:2435 |
| Axial Spondylometaphyseal Dysplasia |
|
Cupped ribs, Abnormal ilium morphology, Delayed ossification of carpal bones, Aplasia/Hypoplasia ... |
ORPHA:168549 |
| Vertebral Hypoplasia With Lumbar Kyphosis |
|
Vertebral hypoplasia, Lumbar kyphosis |
OMIM:192900 |
| Osteogenesis Imperfecta, Type Ix |
|
Decreased calvarial ossification, Wormian bones, Kyphosis, Recurrent fractures, Multiple prenatal... |
OMIM:259440 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Synostosis of carpal bones, Short palm, Abnormality of epiphysis morphology, Short metacarpal, Up... |
ORPHA:93351 |
| Cardiospondylocarpofacial Syndrome |
|
Brachydactyly, Carpal synostosis, Joint laxity, Cone-shaped epiphysis, Scoliosis, Pseudoepiphyses... |
OMIM:157800 |
| Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Cupped ribs, Brachydactyly, Broad toe, Hypoplastic pubic bone, Delayed ossification of carpal bon... |
OMIM:609616 |
| Immunodeficiency 14A, Autosomal Dominant |
|
T lymphocytopenia, Increased circulating IgM level, Decreased specific pneumococcal antibody leve... |
OMIM:615513 |
| Thanatophoric Dysplasia, Type Ii |
|
Brachydactyly, Metaphyseal irregularity, Short greater sciatic notch, Short ribs, Wide-cupped cos... |
OMIM:187601 |
| Spondylometaphyseal Dysplasia, Axial |
|
Anterior rib cupping, Short femoral neck, Rhizomelia, Proximal femoral metaphyseal irregularity, ... |
OMIM:602271 |
| Cernunnos-Xlf Deficiency |
|
T lymphocytopenia, Thrombocytopenia, Decreased circulating antibody level, Anemia, B lymphocytope... |
ORPHA:169079 |
| Schneckenbecken Dysplasia |
|
Brachydactyly, Advanced ossification of carpal bones, Metaphyseal irregularity, Anterior rib cupp... |
OMIM:269250 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Genu varum, Proximal femoral metaphyseal irregularity, Hip dysplasia, Bowing of the legs, Widened... |
ORPHA:174 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Enlargement of the costochondral junction, Hypoplastic sacrum, Short palm, Short metacarpal, Uppe... |
OMIM:271650 |
| Sprengel Deformity |
|
Scoliosis, Sprengel anomaly, Spina bifida occulta, Cervical segmentation defect, Hemivertebrae, R... |
OMIM:184400 |
| Thoracolaryngopelvic Dysplasia |
|
Horizontal ribs, Metaphyseal widening, Short ribs, Irregular chondrocostal junctions, Hypoplastic... |
OMIM:187760 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Cupped ribs, Brachydactyly, Metaphyseal irregularity, Hypoplastic inferior ilia, Ovoid vertebral ... |
OMIM:608940 |
| Immunodeficiency With Hyper-Igm, Type 3 |
|
Decreased circulating IgG level, Decreased circulating IgE, Increased circulating IgM level, Abse... |
OMIM:606843 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Carpal bone hypoplasia, Metaphyseal irregularity, Hypoplasia of the ulna, Short neck, Short femor... |
OMIM:618395 |
| Cerebrofaciothoracic Dysplasia |
|
Short neck, Bifid ribs, Scoliosis, Short stature, Sprengel anomaly, Narrow chest, Vertebral segme... |
ORPHA:1394 |
| Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Neonatal short-limb short stature, Hypoplastic ischia, Hypoplastic pubic bone, Short neck, Short ... |
OMIM:151210 |
| Acrocapitofemoral Dysplasia |
|
Cupped ribs, Genu varum, Small finger, Delayed ossification of carpal bones, Cone-shaped metacarp... |
OMIM:607778 |
| Diastrophic Dysplasia |
|
Abnormal rib morphology, Scoliosis, Hip dysplasia, Bowing of the long bones, Increased bone miner... |
ORPHA:628 |
| Osteogenesis Imperfecta, Type Iii |
|
Neonatal short-limb short stature, Decreased calvarial ossification, Wormian bones, Kyphosis, Rec... |
OMIM:259420 |
| Hypogonadism, Male |
|
Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy |
OMIM:241100 |
| Dyggve-Melchior-Clausen Disease |
|
Abnormality of the vertebral column, Abnormal hip bone morphology, Abnormal pelvis bone morpholog... |
ORPHA:239 |
| Caspase 8 Deficiency |
|
Decreased T cell activation, Decreased circulating total IgM, Decreased circulating IgG level, De... |
OMIM:607271 |
| Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Brachydactyly, Metaphyseal irregularity, Anterior rib cupping, Hypoplastic pubic bone, Severe sho... |
OMIM:184250 |
| 22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
T lymphocytopenia |
DECIPHER:16 |
| Pseudoachondroplasia |
|
Genu varum, Flared femoral metaphysis, Scoliosis, Irregular carpal bones, Metaphyseal widening, F... |
OMIM:177170 |
| Juberg-Hayward Syndrome |
|
Toe syndactyly, Intrauterine growth retardation, Hammertoe, Severe short stature, Short thumb, Ab... |
ORPHA:2319 |
| T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations |
|
Neutropenia, Lymphopenia |
OMIM:614868 |
| Lethal Congenital Contracture Syndrome Type 1 |
|
Abnormal hip bone morphology, Short neck, Recurrent fractures, Abnormal form of the vertebral bod... |
ORPHA:1486 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Scoliosis, Dysplastic patella, Camptodactyly of toe, Arthrogryposis multiplex congenita, Rib fusi... |
OMIM:265000 |
| Combined Immunodeficiency, X-Linked |
|
Decreased circulating IgG level, Decreased proportion of CD4-positive helper T cells, Decreased p... |
OMIM:312863 |
| Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Short stature, Vertebral segmentation defect, Short neck, Abnormal rib morphology |
ORPHA:2578 |
| Osteogenesis Imperfecta, Type Xv |
|
Recurrent fractures, Thin ribs, Platyspondyly, Joint hypermobility, Scoliosis, Short stature, Bow... |
OMIM:615220 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Bowing of the long bones, Short neck, Abnormality of epiphysis morphology, Rhizomelia, Decreased ... |
ORPHA:93267 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Delayed ossification of carpal bones, Disproportionate short-trunk short stature, Abnormal rib ca... |
OMIM:184252 |
| Immunodeficiency 52 |
|
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Decreased circulatin... |
OMIM:617514 |
| Isolated Splenogonadal Fusion |
|
Abnormality of the epididymis, Unilateral cryptorchidism, Abnormal penis morphology, Ectopia of t... |
ORPHA:457083 |
| Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Abnormality of T cell physiology |
OMIM:308220 |
| Thanatophoric Dysplasia, Type I |
|
Bowing of the long bones, Metaphyseal irregularity, Short greater sciatic notch, Short ribs, Seve... |
OMIM:187600 |
| Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Abnormality of the cervical spine, Superior rib anomalies |
OMIM:307500 |
| Achondrogenesis, Type Ii |
|
Horizontal ribs, Short ribs, Disproportionate short-trunk short stature, Barrel-shaped chest, Hyp... |
OMIM:200610 |
| T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
Decreased helper T cell proportion, T lymphocytopenia |
OMIM:601705 |
| Isolated Klippel-Feil Syndrome |
|
Abnormality of the vertebral column, Abnormal sacrum morphology, Cervical C2/C3 vertebral fusion,... |
ORPHA:2345 |
| Acrodysplasia Scoliosis |
|
Spina bifida occulta, Vertebral segmentation defect, Scoliosis |
ORPHA:2956 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Missing ribs, Block vertebrae, Short neck, Short ribs, Thin ribs, Supernumerary vertebrae, Scolio... |
OMIM:271520 |
| Lymphoproliferative Syndrome 3 |
|
Hepatosplenomegaly, Decreased circulating antibody level, Lymphadenopathy, Partial absence of spe... |
OMIM:618261 |
| Fibrochondrogenesis |
|
Brachydactyly, Short neck, Abnormal form of the vertebral bodies, Camptodactyly of finger, Short ... |
ORPHA:2021 |
| Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Short neck, Abnormality of the humeroulnar joint, Abnormal form of the vertebral bodies, Abnormal... |
ORPHA:2234 |
| Fibrochondrogenesis 1 |
|
Fibular hypoplasia, Posterior vertebral hypoplasia, Clinodactyly of the 5th finger, Widely patent... |
OMIM:228520 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Clinodactyly, Missing ribs, Bifid distal phalanx of toe, Scoliosis, Vertebral fusion, Small hand,... |
OMIM:268310 |
| T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
T lymphocytopenia, Abnormally low T cell receptor excision circle level |
OMIM:618806 |
| Acropectorovertebral Dysplasia |
|
Synostosis of carpal bones, Toe syndactyly, Finger syndactyly, Bifid distal phalanx of the thumb,... |
OMIM:102510 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormal hip bone morphology, Short neck, Kyphosis, Hyperlordosis, Abnormal clavicle morphology, ... |
ORPHA:2522 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Intrauterine growth retardation, Metaphyseal cupping of proximal phalanges, 11 pairs of ribs, Thi... |
OMIM:300863 |
| Immunodeficiency 81 |
|
Reduced antigen-specific T cell proliferation, Impaired neutrophil chemotaxis, Reduced natural ki... |
OMIM:619374 |
| Achondrogenesis, Type Ia |
|
Hypoplastic ischia, Short neck, Short ribs, Hypoplastic scapulae, Decreased skull ossification, H... |
OMIM:200600 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Genu varum, Flattened epiphysis, Flared iliac wing, Rhizomelia, Tibial bowing, Pear-shaped verteb... |
OMIM:602111 |
| Saul-Wilson Syndrome |
|
Coxa valga, Intrauterine growth retardation, Cone-shaped epiphyses of the phalanges of the hand, ... |
OMIM:618150 |
| Severe Combined Immunodeficiency, X-Linked |
|
Decreased circulating IgG level, T lymphocytopenia, Decreased circulating total IgM, Decreased ci... |
OMIM:300400 |
| Dyggve-Melchior-Clausen Disease |
|
Genu varum, Clinodactyly of the 5th finger, Rhizomelic arm shortening, Disproportionate short-tru... |
OMIM:223800 |
| Craniodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Short stature, Diaphyseal thickening, Abnormal rib morphology |
ORPHA:1513 |
| Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased T cell activation, Autoimmune thrombocytopenia, Decreased CD4:CD8 ratio, Decreased prop... |
OMIM:300853 |
| Thoracomelic Dysplasia |
|
Abnormality of pelvic girdle bone morphology, Short neck, Disproportionate short-limb short statu... |
ORPHA:1803 |
| Pontine Tegmental Cap Dysplasia |
|
Scoliosis, Hemivertebrae, Rib fusion, Ankle clonus |
OMIM:614688 |
| Autosomal Recessive Multiple Pterygium Syndrome |
|
Symphalangism affecting the phalanges of the hand, Finger syndactyly, Pterygium, Popliteal pteryg... |
ORPHA:2990 |
| Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Wormian bones, Osteopenia, Increased bone mineral density, Coxa valga, Broad femoral neck, Thin b... |
ORPHA:85184 |
| Jeune Syndrome |
|
Brachydactyly, Toe syndactyly, Abnormality of pelvic girdle bone morphology, Short thorax, Postax... |
ORPHA:474 |
| Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Reduced antigen-specific T cell proliferation, Increased circulating IgM level, Decreased proport... |
OMIM:617241 |
| Immunodeficiency 21 |
|
Neutropenia, Abnormal natural killer cell morphology, Myeloid leukemia, Aplastic anemia, Monocyto... |
OMIM:614172 |
| Osteogenesis Imperfecta, Type Viii |
|
Decreased calvarial ossification, Multiple prenatal fractures, Decreased skull ossification, Scol... |
OMIM:610915 |
| Immunodeficiency 76 |
|
T lymphocytopenia, Splenomegaly, B lymphocytopenia, Lymphadenopathy, Lymphopenia |
OMIM:619164 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Coronal cleft vertebrae, Abnormality of the vertebral column, Genu varum, Abnormal ilium morpholo... |
ORPHA:93314 |
| Lethal Kniest-Like Dysplasia |
|
Brachydactyly, Coronal cleft vertebrae, Anterior rib cupping, Short neck, Hypoplastic vertebral b... |
ORPHA:2347 |
| Osteogenesis Imperfecta, Type Ii |
|
Wormian bones, Abnormality of pelvic girdle bone morphology, Recurrent fractures, Multiple prenat... |
OMIM:166210 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
T lymphocytopenia, Lack of T cell function, Absence of lymph node germinal center, B lymphocytope... |
ORPHA:277 |
| Immunodeficiency 64 |
|
Decreased circulating IgG level, Hepatosplenomegaly, Increased circulating IgG level, Abnormal CD... |
OMIM:618534 |
| X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Abnormal sacrum morphology, Scoliosis, Thoracic hemivertebrae, Fused cervical vertebrae |
ORPHA:1436 |
| Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Cone-shaped capital femoral epiphysis, Metaphyseal widening, Brachydactyly, Thoracic kyphosis, Sh... |
OMIM:300232 |
| Mucopolysaccharidosis Type 4 |
|
Bowing of the long bones, Short neck, Short thorax, Kyphosis, Abnormality of epiphysis morphology... |
ORPHA:582 |
| Achondrogenesis Type 1B |
|
Short neck, Short thorax, Abnormal enchondral ossification, Severe short stature, Abnormal rib mo... |
ORPHA:93298 |
| Myotonia With Skeletal Abnormalities And Mental Retardation |
|
Vertebral wedging, Irregular femoral epiphysis, Short stature, Bell-shaped thorax, Pectus carinat... |
OMIM:255710 |
| Melnick-Needles Syndrome |
|
Bowing of the long bones, Coxa valga, Short thorax, Joint hyperflexibility, Craniofacial hyperost... |
ORPHA:2484 |
| Immunodeficiency, Common Variable, 1 |
|
Decreased circulating IgG level, Decreased circulating total IgM, Splenomegaly, Decreased circula... |
OMIM:607594 |
| Dextrocardia With Unusual Facies And Microphthalmia |
|
Vertebral segmentation defect, Supernumerary ribs, Vertebral fusion |
OMIM:221950 |
| Autoimmune Lymphoproliferative Syndrome |
|
Eosinophilia, Decreased lymphocyte apoptosis, Increased circulating IgG level, Increased circulat... |
OMIM:601859 |
| Bone Marrow Failure Syndrome 5 |
|
Anemia, Testicular atrophy, Hypogonadism, Pure red cell aplasia |
OMIM:618165 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Craniosynostosis, Abnormal vertebral morphology, Hand polydactyly, Scoliosis, Rib fusion |
ORPHA:261197 |
| Cog1-Cdg |
|
Irregularity of vertebral bodies, Short neck, Osteopenia, Coxa valga, Short long bone, Rhizomelia... |
ORPHA:263508 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Eosinophilia, T lymphocytopenia, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly... |
ORPHA:169154 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Genu varum, Metaphyseal irregularity, Vertebral hypoplasia, Short neck, Short femoral neck, Short... |
OMIM:602557 |
| Microphthalmia, Syndromic 3 |
|
Supernumerary ribs, Vertebral hypoplasia, Missing ribs, Short stature, Vertebral fusion, Butterfl... |
OMIM:206900 |
| Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa |
|
Prominent deltoid tuberosities, Short neck, Short femoral neck, Short ribs, Rhizomelia, Scoliosis... |
OMIM:610319 |
| Holt-Oram Syndrome |
|
Absent thumb, Kyphosis, Phocomelia, Joint stiffness, Finger syndactyly, Triphalangeal thumb, Abno... |
ORPHA:392 |
| Three M Syndrome 1 |
|
Short neck, Short thorax, Slender long bone, Increased vertebral height, Short ribs, Clinodactyly... |
OMIM:273750 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Short palm, Intrauterine growth retardation, Rhizomelia, Thin ribs, Metaphyseal chondrodysplasia,... |
ORPHA:163966 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Gonadotropin deficiency, Abnormal sperm morphology, Hypogonadotropic hypogonadism, Female hypogon... |
ORPHA:52901 |
| Grant Syndrome |
|
Bowing of the long bones, Wormian bones, Abnormality of pelvic girdle bone morphology, Joint disl... |
ORPHA:2097 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
T lymphocytopenia, Absent natural killer cells, Abnormality of B cell physiology, Impaired lympho... |
OMIM:600802 |
| Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Hemolytic anemia, Lymphad... |
ORPHA:444463 |
| Craniofacial Dysmorphism, Skeletal Anomalies, And Mental Retardation Syndrome |
|
Craniosynostosis, Short neck, Sacral dimple, Beaking of vertebral bodies, Joint hypermobility, Bi... |
OMIM:213980 |
| Osteogenesis Imperfecta, Type Xvi |
|
Osteopenia, Vertebral compression fracture, Rhizomelia, Joint hypermobility, Beaded ribs |
OMIM:616229 |
| 3M Syndrome |
|
Horizontal ribs, Clinodactyly of the 5th finger, Scoliosis, Enlarged thorax, Scapular winging, Hy... |
ORPHA:2616 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Short neck, Osteopenia, Intrauterine growth retardation, Rhizomelia, Abnormal rib morphology, Sco... |
OMIM:611209 |
| Mucopolysaccharidosis, Type Iva |
|
Kyphosis, Ovoid vertebral bodies, Coxa valga, Cervical subluxation, Hypoplasia of the odontoid pr... |
OMIM:253000 |
| Spermatogenic Failure, X-Linked, 2 |
|
Azoospermia, Male infertility, Testicular atrophy |
OMIM:309120 |
| Kniest-Like Dysplasia, Lethal |
|
Brachydactyly, Coronal cleft vertebrae, Metaphyseal irregularity, Short neck, Hypoplastic vertebr... |
OMIM:245190 |
| Immunodeficiency 85 And Autoimmunity |
|
Decreased circulating IgG level, T lymphocytopenia, Decreased proportion of memory B cells, Decre... |
OMIM:619510 |
| Craniometadiaphyseal Dysplasia |
|
Genu varum, Wormian bones, Osteopenia, Coxa valga, Sclerosis of skull base, Flared metaphysis, Sc... |
OMIM:269300 |
| Osteogenesis Imperfecta, Type Xxi |
|
Bowing of the legs, Bowing of the arm, Wormian bones, Coxa valga, Recurrent fractures, Osteoporos... |
OMIM:619131 |
| Osteogenesis Imperfecta, Type Vii |
|
Bowing of the legs, Decreased calvarial ossification, Wormian bones, Osteopenia, Vertebral compre... |
OMIM:610682 |
| Cole-Carpenter Syndrome |
|
Bowing of the long bones, Wormian bones, Kyphosis, Abnormal form of the vertebral bodies, Recurre... |
ORPHA:2050 |
| Femoral-Facial Syndrome |
|
Missing ribs, Scoliosis, Hemivertebrae, Short fifth metatarsal, Rib fusion, Short third metatarsa... |
OMIM:134780 |
| Diaphanospondylodysostosis |
|
Missing ribs, Short neck, Short thorax, Absent or minimally ossified vertebral bodies, Narrow pel... |
ORPHA:66637 |
| Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Irregular epiphyses, Short neck, Kyphosis, Hip osteoarthritis, Short femoral neck, Shield chest, ... |
OMIM:313400 |
| Becker Nevus Syndrome |
|
Scoliosis, Cervical ribs, Hemivertebrae, Pectus excavatum |
OMIM:604919 |
| Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Toe syndactyly, Kyphosis, Short neck, Abnormality of epiphysis morphology, Metatarsus valgus, Apl... |
ORPHA:3082 |
| Immunodeficiency 25 |
|
Eosinophilia, T lymphocytopenia, Increased circulating IgG level, Complete or near-complete absen... |
OMIM:610163 |
| Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Hypoplasia of the ulna, Lumbar platyspondyly, Fibular hypoplasia, Hypoplasia of the radius, Absen... |
OMIM:601376 |
| Mucolipidosis Iii Gamma |
|
Flat capital femoral epiphysis, Kyphosis, Short neck, Joint stiffness, Flared iliac wing, Hyperlo... |
OMIM:252605 |
| Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Brachydactyly, Abnormal form of the vertebral bodies, Sandal gap, Abnormal rib morphology, Scolio... |
ORPHA:2180 |
| Mucopolysaccharidosis, Type Ivb |
|
Kyphosis, Ovoid vertebral bodies, Coxa valga, Cervical subluxation, Hypoplasia of the odontoid pr... |
OMIM:253010 |
| Immunodeficiency 13 |
|
T lymphocytopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, ... |
OMIM:615518 |
| Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness |
|
Cupped ribs, Narrow iliac wing, Genu varum, Scoliosis, Metaphyseal widening, Genu valgum, Brachyd... |
OMIM:250420 |
| Griscelli Syndrome, Type 2 |
|
Hepatosplenomegaly, Reduced delayed hypersensitivity, Hemophagocytosis |
OMIM:607624 |
| Phaver Syndrome |
|
Joint stiffness, Abnormal form of the vertebral bodies, Pterygium, Intrauterine growth retardatio... |
ORPHA:2876 |
| Dysosteosclerosis |
|
Narrow iliac wing, Hypoplastic vertebral bodies, Sclerosis of hand bone, Broad femoral neck, Disp... |
OMIM:224300 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Pancytopenia, Decreased circulating IgG level, T lymphocytopenia, Leukopenia, Hepatosplenomegaly,... |
OMIM:618986 |
| Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Neutropenia, Monocytosis, B lymphocytopenia |
OMIM:613107 |
| Achondrogenesis Type 1A |
|
Short neck, Short thorax, Abnormal enchondral ossification, Recurrent fractures, Short palm, Seve... |
ORPHA:93299 |
| Mosaic Trisomy 14 |
|
Narrow chest, Short neck, Camptodactyly of finger, Abnormal rib morphology |
ORPHA:1703 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Eosinophilia, Decreased circulating IgG level, Reduced antigen-specific T cell proliferation, Dec... |
ORPHA:331206 |
| Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Cervical C2/C3 vertebral fusion, Short neck, Abnormality of limb bone morphology, Abnormal rib mo... |
OMIM:118100 |
| Pallister-Hall Syndrome |
|
Toe syndactyly, Postaxial foot polydactyly, Intrauterine growth retardation, Radial head subluxat... |
OMIM:146510 |
| Aicardi Syndrome |
|
Missing ribs, Block vertebrae, Supernumerary ribs, Bifid ribs, Scoliosis, Small hand, Butterfly v... |
ORPHA:50 |
| White Forelock With Malformations |
|
Finger syndactyly, Clinodactyly of the 5th finger, Abnormal rib morphology, Sprengel anomaly, Spi... |
ORPHA:2475 |
| Cole-Carpenter Syndrome 2 |
|
Narrow iliac wing, Lambdoidal craniosynostosis, Wormian bones, Kyphosis, Osteopenia, Coronal cran... |
OMIM:616294 |
| Cooper-Jabs Syndrome |
|
Abnormal hip bone morphology, Missing ribs, Abnormal rib morphology, Scoliosis, Proximal placemen... |
ORPHA:1488 |
| Mucopolysaccharidosis, Type X |
|
Posterior scalloping of vertebral bodies, Spatulate ribs, Irregular acetabular roof, Beaking of v... |
OMIM:619698 |
| Spondylometaphyseal Dysplasia, Algerian Type |
|
Carpal bone hypoplasia, Hypoplasia of proximal radius, Anterior rib cupping, Short greater sciati... |
OMIM:184253 |
| Autosomal Recessive Robinow Syndrome |
|
Abnormal hip bone morphology, Sandal gap, Clinodactyly of the 5th finger, Scoliosis, Death in inf... |
ORPHA:1507 |
| Baller-Gerold Syndrome |
|
Carpal synostosis, Scoliosis, Carpal bone aplasia, Bicoronal synostosis, Aplasia of metacarpal bo... |
OMIM:218600 |
| Septopreoptic Holoprosencephaly |
|
Abnormal vertebral morphology, Abnormal rib morphology |
ORPHA:280195 |
| Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Missing ribs, Abnormal form of the vertebral bodies, Clinodactyly of the 5th finger, Abnormal rib... |
ORPHA:2759 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Genu varum, Severe short stature, Narrow vertebral interpedicular distance, Disproportionate shor... |
ORPHA:93352 |
| Aicardi Syndrome |
|
Missing ribs, Block vertebrae, Supernumerary ribs, Bifid ribs, Scoliosis, Proximal placement of t... |
OMIM:304050 |
| Immunodeficiency 57 With Autoinflammation |
|
T lymphocytopenia, Decreased circulating antibody level, B lymphocytopenia, Perianal abscess, Par... |
OMIM:618108 |
| Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Bowing of the long bones, Intrauterine growth retardation, Abnormality of fibula morphology, Tibi... |
ORPHA:3035 |
| Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
T lymphocytopenia, Lymphopenia |
OMIM:618309 |
| Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Diaphyseal sclerosis, Craniofacial osteosclerosis, Craniofacial hyperostosis, Cortical sclerosis,... |
OMIM:122860 |
| Osteogenesis Imperfecta, Type Xviii |
|
Bowing of the long bones, Generalized osteoporosis, Wormian bones, Vertebral compression fracture... |
OMIM:617952 |
| Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Pancytopenia, Bone marrow hypocellularity, Testicular atrophy, Cirrhosis, Thrombocytopenia |
OMIM:613987 |
| Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Slender long bone, Abnormality of pelvic girdle bone morphology, Intrauterine growth retardation,... |
ORPHA:1506 |
| Greenberg Dysplasia |
|
Hypoplastic vertebral bodies, Multiple prenatal fractures, 11 pairs of ribs, Decreased skull ossi... |
OMIM:215140 |
| Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Abnormality of the vertebral column, Short stature, Sprengel anomaly, Abnormal rib morphology |
OMIM:601076 |
| Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal form of the vertebral bodies, Abnormal rib morphology |
ORPHA:93941 |
| Three M Syndrome 2 |
|
Clinodactyly, Short neck, Short thorax, Intrauterine growth retardation, Severe short stature, Th... |
OMIM:612921 |
| Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Slender long bone, Abnormal form of the vertebral bodies, Generalized bone demineralization, Thin... |
ORPHA:73230 |
| Wolf-Hirschhorn Syndrome |
|
Abnormality of the vertebral column, Hypoplastic pubic rami, Kyphosis, Abnormal form of the verte... |
ORPHA:280 |
| Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Cervical C2/C3 vertebral fusion, Short neck, Scoliosis, Sprengel anomaly, Fused cervical vertebrae |
OMIM:214300 |
| Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Anterior scalloping of vertebral bodies, Hypoplastic iliac wing, Short toe, Brachydactyly, Short ... |
OMIM:611717 |
| Opsismodysplasia |
|
Hypoplastic ischia, Anterior rib cupping, Short neck, Posterior rib cupping, Hypoplastic vertebra... |
OMIM:258480 |
| Brachytelephalangic Chondrodysplasia Punctata |
|
Abnormality of the vertebral column, Cervical kyphosis, Vertebral hypoplasia, Coronal cleft verte... |
ORPHA:79345 |
| Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Brachydactyly, Horizontal ribs, Short long bone, Lateral clavicle hook, Thoracic dysplasia, Bell-... |
OMIM:615633 |
| Otopalatodigital Syndrome, Type Ii |
|
Short thumb, Bulbous tips of toes, Narrow chest, Irregular metacarpals, Short ribs, Spondylolysis... |
OMIM:304120 |
| Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
|
Thoracic hemivertebrae, Fused cervical vertebrae, Scoliosis |
OMIM:309620 |
| Lymphangiectasia, Intestinal |
|
Decreased circulating IgG level, Lymphopenia |
OMIM:152800 |
| Desbuquois Dysplasia 2 |
|
Genu varum, Radial head subluxation, Severe short stature, Metaphyseal widening, Narrow chest, Br... |
OMIM:615777 |
| Autosomal Recessive Kenny-Caffey Syndrome |
|
Thin long bone diaphyses, Intrauterine growth retardation, Thin ribs, Decreased skull ossificatio... |
ORPHA:93324 |
| Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Eosinophilia, Lymphopenia |
ORPHA:2582 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
T lymphocytopenia, Panhypogammaglobulinemia, B lymphocytopenia |
OMIM:601457 |
| Mucopolysaccharidosis, Type Vi |
|
Metaphyseal irregularity, Ovoid vertebral bodies, Joint stiffness, Flared iliac wing, Split hand,... |
OMIM:253200 |
| Hemochromatosis, Type 1 |
|
Hypogonadotropic hypogonadism, Amenorrhea, Azoospermia, Splenomegaly, Hepatomegaly, Osteoporosis,... |
OMIM:235200 |
| Adult Idiopathic Neutropenia |
|
Monocytosis, Increased circulating IgM level, Neutropenia, Monocytopenia, Lymphopenia |
ORPHA:2688 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Abnormal thumb morphology, Triphalangeal thumb, Short thumb, Abnormal rib morphology, Short dista... |
ORPHA:1120 |
| Multiple Pterygium Syndrome, X-Linked |
|
Flexion contracture, Intrauterine growth retardation, Thin ribs, Increased susceptibility to frac... |
OMIM:312150 |
| Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Pancytopenia, Thrombocytosis, Megaloblastic anemia, Decreased circulating antibody level, Macrocy... |
OMIM:617780 |
| Mucolipidosis Iii Alpha/Beta |
|
Craniosynostosis, Shallow acetabular fossae, Short long bone, Short ribs, Scoliosis, Short statur... |
OMIM:252600 |
| Chromosome 16Q22 Deletion Syndrome |
|
Wormian bones, Short neck, Prominent metopic ridge, Broad hallux, Growth delay, Postnatal growth ... |
OMIM:614541 |
| Holzgreve Syndrome |
|
Abnormality of the ulna, Joint stiffness, Intrauterine growth retardation, Hand polydactyly, Abno... |
ORPHA:2167 |
| Spinocerebellar Ataxia 32 |
|
Azoospermia, Infertility, Testicular atrophy |
OMIM:613909 |
| Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta |
|
Wormian bones, Clinodactyly of the 3rd toe, Asymmetry of the thorax, Delayed closure of the anter... |
OMIM:604922 |
| Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Sacral dimple, Clinodactyly of the 5th finger, Tapered finger, Tapered toe, Rib fusion |
ORPHA:544488 |
| Mucopolysaccharidosis Type 6 |
|
Short neck, Kyphosis, Ovoid vertebral bodies, Joint stiffness, Disproportionate short-trunk short... |
ORPHA:583 |
| X-Linked Hypophosphatemia |
|
Genu varum, Upper limb metaphyseal widening, Rachitic rosary, Disproportionate short stature, Fla... |
ORPHA:89936 |
| Kniest Dysplasia |
|
Coronal cleft vertebrae, Enlarged epiphyses, Disproportionate short-trunk short stature, Dispropo... |
ORPHA:485 |
| Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Abnormal hip bone morphology, Craniofacial hyperostosis, Clinodactyly of the 5th finger, Hyperlor... |
ORPHA:3068 |
| Spinocerebellar Ataxia Type 32 |
|
Azoospermia, Male infertility, Testicular atrophy |
ORPHA:276183 |
| Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
T lymphocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neu... |
ORPHA:231154 |
| Gm1-Gangliosidosis, Type I |
|
Short neck, Kyphosis, Hypoplastic vertebral bodies, Joint stiffness, Severe short stature, Intrau... |
OMIM:230500 |
| Cat-Eye Syndrome |
|
Short stature, Hip dysplasia, Intrauterine growth retardation, Abnormal rib morphology |
ORPHA:195 |
| Multiple Pterygium Syndrome, Lethal Type |
|
Flexion contracture, Intrauterine growth retardation, Thin ribs, Increased susceptibility to frac... |
OMIM:253290 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Cupped ribs, Short ribs, Ankle flexion contracture, Knee flexion contracture, Hip contracture, Ar... |
ORPHA:1145 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Brachydactyly, Intrauterine growth retardation, Abnormality of epiphysis morphology, Severe short... |
ORPHA:2643 |
| Acro-Renal-Mandibular Syndrome |
|
Rudimentary fibula, Butterfly vertebrae, Hypoplasia of the ulna, Short neck, Kyphosis, Finger syn... |
ORPHA:958 |
| Acromesomelic Dysplasia 4 |
|
Genu varum, Prominent deltoid tuberosities, Thoracic platyspondyly, Sandal gap, Disproportionate ... |
OMIM:619636 |
| Osteogenesis Imperfecta, Type X |
|
Bowing of the long bones, Osteopenia, Vertebral compression fracture, Thin ribs, Joint laxity, Ge... |
OMIM:613848 |
| Short Stature And Facioauriculothoracic Malformations |
|
Cervical ribs, Short neck, Pectus excavatum, Abnormality of the odontoid process, Pectus carinatu... |
OMIM:609654 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Enlargement of the ankles, Bowing of the legs, Bulging of the costochondral junction, Enlargement... |
OMIM:600081 |
| Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... |
OMIM:611926 |
| Kennedy Disease |
|
Erectile dysfunction, Decreased fertility, Type II diabetes mellitus, Testicular atrophy |
ORPHA:481 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Eosinophilia, Decreased lymphocyte apoptosis, Increased circulating IgG level, Increased circulat... |
OMIM:603909 |
| Hypophosphatasia, Infantile |
|
Bowing of the legs, Decreased calvarial ossification, Vertebral clefting, Craniosynostosis, Dispr... |
OMIM:241500 |
| Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Delayed ossification of carpal bones, Cone-shaped metacarpal epiphyses, Disproportionate short-tr... |
OMIM:300106 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Wormian bones, Short neck, Flexion contracture, Multiple prenatal fractures, Osteopenia, Short ri... |
OMIM:616897 |
| Cenani-Lenz Syndrome |
|
Synostosis of carpal bones, Toe syndactyly, Hypoplasia of the ulna, Finger syndactyly, Abnormal f... |
ORPHA:3258 |
| Cleidocranial Dysplasia |
|
Abnormal thumb morphology, Clinodactyly of the 5th finger, Tapered finger, Osteoporosis, Decrease... |
ORPHA:1452 |
| Frontometaphyseal Dysplasia 1 |
|
Long phalanx of finger, Increased density of long bone diaphyses, Partial fusion of tarsals, Coxa... |
OMIM:305620 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Cupped ribs, Severe short stature, Metaphyseal spurs, Scoliosis, Narrow greater sciatic notch, Br... |
ORPHA:85167 |
| Mirage Syndrome |
|
Hypoplastic spleen, Adrenal insufficiency, Leukopenia, Cryptorchidism, Radial club hand, Shawl sc... |
OMIM:617053 |
| Ritscher-Schinzel Syndrome 3 |
|
Shortening of all distal phalanges of the fingers, Hypoplasia of the ulna, Epiphyseal stippling, ... |
OMIM:619135 |
| Wolf-Hirschhorn Syndrome |
|
Short thumb, Scoliosis, Vertebral fusion, Hip dysplasia, Rib fusion, Hip dislocation, Intrauterin... |
OMIM:194190 |
| Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Decreased calvarial ossification, Intrauterine growth retardation, Recurrent fractures, Abnormal ... |
ORPHA:2772 |
| Zttk Syndrome |
|
Cervical ribs, Kyphosis, Flexion contracture, Craniosynostosis, Intrauterine growth retardation, ... |
OMIM:617140 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short palm, Short metacarpal, Rhizomelic arm shortening, Abnormal scapula morphology, Cone-shaped... |
ORPHA:93317 |
| Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Joint hypermobility, Hypoplastic distal segments of scapulae, Abnormal rib morphology, Pectus exc... |
OMIM:602196 |
| Axial Mesodermal Dysplasia Spectrum |
|
Missing ribs, Short neck, Abnormal form of the vertebral bodies, Abnormality of pelvic girdle bon... |
ORPHA:1834 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Decreased circulating IgG level, Decreased proportion of CD3-positive T cells, Increased circulat... |
ORPHA:276 |
| Hypophosphatasia |
|
Bowing of the long bones, Craniosynostosis, Recurrent fractures, Abnormal rib morphology, Short s... |
ORPHA:436 |
| Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant |
|
Decreased circulating IgG level, Decreased circulating total IgM, Cutaneous abscess, Decreased ci... |
OMIM:619752 |
| Robinow Syndrome |
|
Brachydactyly, Missing ribs, Radioulnar dislocation, Bifid distal phalanx of the thumb, Fused tho... |
ORPHA:97360 |
| Mucopolysaccharidosis, Type Iiia |
|
Ovoid thoracolumbar vertebrae, Joint stiffness, Dense calvaria, Scoliosis, Thickened ribs |
OMIM:252900 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Cupped ribs, Cone-shaped metacarpal epiphyses, 11 pairs of ribs, Disproportionate short stature, ... |
OMIM:250220 |
| Macrocephaly/Autism Syndrome |
|
Decreased circulating antibody level, Splenomegaly, Lymphopenia |
OMIM:605309 |
| T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Decreased circulating IgG level, T lymphocytopenia, Decreased circulating total IgM, Hepatospleno... |
ORPHA:35078 |
| T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Eosinophilia, Decreased circulating IgG level, Hepatosplenomegaly, Decreased proportion of CD3-po... |
ORPHA:169160 |
| Immunodeficiency 36 |
|
Decreased circulating antibody level, Chronic lymphatic leukemia, Splenomegaly, Lymphopenia |
OMIM:616005 |
| Campomelia, Cumming Type |
|
Brachydactyly, Bowing of the long bones, Abnormal thorax morphology, Abnormal rib morphology, Abn... |
ORPHA:1318 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Hepatosplenomegaly, Aplasia of the thymus, Reduced delayed hypersensitivity, Lymphopenia, Abnorma... |
OMIM:242700 |
| Atelosteogenesis, Type I |
|
Coronal cleft vertebrae, Vertebral hypoplasia, 11 pairs of ribs, Thoracic platyspondyly, Narrow c... |
OMIM:108720 |
| Kyphomelic Dysplasia |
|
Anterior rib cupping, Pterygium, Lateral clavicle hook, Undulate ribs, Short metacarpal, Tibial b... |
OMIM:211350 |
| Microcephaly, Short Stature, And Limb Abnormalities |
|
Brachydactyly, Intrauterine growth retardation, Short metacarpal, Clinodactyly of the 5th finger,... |
OMIM:617604 |
| Immunodeficiency, Common Variable, 2 |
|
Decreased circulating IgG level, Splenomegaly, Decreased circulating IgA level, Impaired T cell f... |
OMIM:240500 |
| Microcephaly-Micromelia Syndrome |
|
Craniosynostosis, Short neck, Intrauterine growth retardation, Absent radius, Oligodactyly, Abnor... |
OMIM:251230 |
| Bone Marrow Failure Syndrome 6 |
|
Bone marrow hypocellularity, Neutropenia, Anemia, Increased mean corpuscular volume, Persistence ... |
OMIM:618849 |
| Familial Osteodysplasia, Anderson Type |
|
Missing ribs, Kyphosis, Abnormal form of the vertebral bodies, Recurrent fractures, Clinodactyly ... |
ORPHA:2769 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Cupped ribs, Carpal synostosis, Radial head subluxation, Severe short stature, 11 pairs of ribs, ... |
OMIM:271640 |
| Immunodeficiency 68 |
|
T lymphocytopenia, Lymphadenitis, Abnormal natural killer cell count, B lymphocytopenia, Abscess |
OMIM:612260 |
| Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Decreased circulating IgG level, Decreased circulating total IgM, Autoimmune thrombocytopenia, Au... |
OMIM:616100 |
| Craniosynostosis, Herrmann-Opitz Type |
|
Brachydactyly, Craniosynostosis, Finger syndactyly, Intrauterine growth retardation, Abnormal rib... |
ORPHA:2145 |
| Cartilage-Hair Hypoplasia |
|
Neonatal short-limb short stature, Abnormality of pelvic girdle bone morphology, Short palm, Hypo... |
OMIM:250250 |
| Mucopolysaccharidosis, Type Iiib |
|
Ovoid thoracolumbar vertebrae, Dense calvaria, Joint stiffness, Thickened ribs |
OMIM:252920 |
| Cartilage-Hair Hypoplasia |
|
Abnormal hip bone morphology, Abnormal distal phalanx morphology of finger, Abnormal bone ossific... |
ORPHA:175 |
| 10Q22.3Q23.3 Microduplication Syndrome |
|
Abnormal clavicle morphology, Abnormal rib morphology |
ORPHA:276422 |
| Pyknoachondrogenesis |
|
Abnormal intramembranous ossification, Horizontal ribs, Hypoplastic ischia, Short long bone, Shor... |
ORPHA:3003 |
| Cantú Syndrome |
|
Short neck, Ovoid vertebral bodies, Coxa valga, Finger syndactyly, Short hallux, Osteoporosis, Pl... |
ORPHA:1517 |
| Kenny-Caffey Syndrome, Type 1 |
|
Short palm, Proportionate short stature, Delayed closure of the anterior fontanelle, Intrauterine... |
OMIM:244460 |
| Poland Syndrome |
|
Aplasia/Hypoplasia of the sternum, Abnormality of the ulna, Missing ribs, Finger symphalangism, A... |
ORPHA:2911 |
| Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Scoliosis, Broad long bones, Bowing of the legs, Short ribs, Short phalanx of finger, Flared meta... |
OMIM:271665 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Fused thoracic vertebrae, Scoliosis, Short neck, Fused cervical vertebrae |
OMIM:618469 |
| Short Rib-Polydactyly Syndrome |
|
Horizontal ribs, Abnormal ilium morphology, Abnormal pelvis bone morphology, Metaphyseal spurs, C... |
ORPHA:1505 |
| Stuve-Wiedemann Syndrome 1 |
|
Osteoporosis, Scoliosis, Short tibia, Bowing of the long bones, Short neck, Metaphyseal rarefacti... |
OMIM:601559 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Brachydactyly, Horizontal ribs, Hypoplasia of the ulna, Short long bone, Metaphyseal widening, Fi... |
OMIM:613091 |
| Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Lymphopenia, Decreased circulating antibody level |
ORPHA:1116 |
| Mucopolysaccharidosis, Type Iiic |
|
Ovoid thoracolumbar vertebrae, Joint stiffness, Dense calvaria, Kyphoscoliosis, Thickened ribs |
OMIM:252930 |
| Fibrous Dysplasia Of Bone |
|
Abnormality of the ulna, Abnormal pelvis bone morphology, Fibrous dysplasia of the bones, Abnorma... |
ORPHA:249 |
| Mosaic Trisomy 8 |
|
Short neck, Camptodactyly of finger, Clinodactyly of the 5th finger, Abnormal rib morphology, Sco... |
ORPHA:96061 |
| Prune Belly Syndrome |
|
Congenital hip dislocation, Abnormal rib morphology, Pectus excavatum, Scoliosis, Vertebral segme... |
ORPHA:2970 |
| Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
|
Osteopenia, Periostitis, Flaring of rib cage, Osteomyelitis, Osteolysis, Fused cervical vertebrae... |
OMIM:612852 |
| Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Enlargement of the ankles, Bowing of the legs, Bulging of the costochondral junction, Enlargement... |
OMIM:241530 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Pancytopenia, T lymphocytopenia, Abnormal CD4:CD8 ratio, Lack of T cell function, Autoimmune thro... |
ORPHA:572 |
| Gracile Bone Dysplasia |
|
Hypoplastic spleen, Asplenia, Micropenis, Decreased skull ossification |
OMIM:602361 |
| Sclerosteosis 1 |
|
Abnormality of pelvic girdle bone morphology, Deviation of finger, Cortically dense long tubular ... |
OMIM:269500 |
| Catel-Manzke Syndrome |
|
Ulnar deviation of the 2nd finger, Short neck, Intrauterine growth retardation, Clinodactyly of t... |
OMIM:616145 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Genu varum, Cervical ribs, Coxa valga, Phocomelia, Absent radius, Finger syndactyly, Clinodactyly... |
ORPHA:3320 |
| Craniofaciofrontodigital Syndrome |
|
Short neck, Hypoplastic vertebral bodies, Joint hypermobility, Pectus excavatum, Short stature, H... |
OMIM:114620 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Decreased T cell activation, Decreased circulating IgG level, Decreased circulating IgE, Increase... |
OMIM:308230 |
| Multiple Synostoses Syndrome 1 |
|
Carpal synostosis, Clinodactyly of the 5th finger, Absent distal phalanges, Spinal canal stenosis... |
OMIM:186500 |
| Hurler Syndrome |
|
Short neck, Abnormality of epiphysis morphology, Abnormal vertebral morphology, Abnormal clavicle... |
ORPHA:93473 |
| Renpenning Syndrome |
|
Abnormal thumb morphology, Joint stiffness, Severe short stature, Clinodactyly of the 5th finger,... |
ORPHA:3242 |
| Radio-Renal Syndrome |
|
Brachydactyly, Short neck, Short palm, Abnormal form of the vertebral bodies, Severe short statur... |
ORPHA:3015 |
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Abnormality of the vertebral column, Abnormal vertebral morphology, Abnormal rib morphology, Scol... |
OMIM:308205 |
| Hyperparathyroidism, Transient Neonatal |
|
Osteopenia, Short ribs, Thin ribs, Narrow chest, Femoral bowing |
OMIM:618188 |
| Meier-Gorlin Syndrome 1 |
|
Absent sternal ossification, Genu varum, Clinodactyly of the 5th finger, Abnormal rib cage morpho... |
OMIM:224690 |
| Alagille Syndrome |
|
Hypoplasia of the ulna, Abnormal form of the vertebral bodies, Intrauterine growth retardation, C... |
ORPHA:52 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Hypoplastic spleen, T lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin... |
OMIM:619313 |
| Lethal Congenital Contracture Syndrome 10 |
|
Thoracic scoliosis, Short neck, Intrauterine growth retardation, Overlapping fingers, Adducted th... |
OMIM:617022 |
| Mucopolysaccharidosis, Type Vii |
|
Short neck, Kyphosis, Flexion contracture, Joint stiffness, Anterior beaking of lumbar vertebrae,... |
OMIM:253220 |
| Trisomy 13 |
|
Abnormality of pelvic girdle bone morphology, Kyphosis, Intrauterine growth retardation, Abnormal... |
ORPHA:3378 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Enlargement of the ankles, Bowing of the legs, Bulging of the costochondral junction, Enlargement... |
OMIM:264700 |
| Shwachman-Diamond Syndrome 1 |
|
Enlargement of the costochondral junction, Anterior rib cupping, Ovoid vertebral bodies, Metaphys... |
OMIM:260400 |
| Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Decreased ... |
OMIM:308700 |
| Symptomatic Form Of Hemochromatosis Type 1 |
|
Hypogonadotropic hypogonadism, Infertility, Portal hypertension, Hypothyroidism, Amenorrhea, Chol... |
ORPHA:465508 |
| Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Supernumerary ribs, Craniosynostosis, Osteopenia, Lateral clavicle hook, Thin ribs, Joint laxity,... |
OMIM:182212 |
| Marden-Walker Syndrome |
|
Short neck, Kyphosis, Intrauterine growth retardation, Joint contracture of the hand, Radioulnar ... |
OMIM:248700 |
| 1P36 Deletion Syndrome |
|
Brachydactyly, Kyphosis, Foot polydactyly, Joint stiffness, 11 pairs of ribs, Clinodactyly of the... |
ORPHA:1606 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Horizontal ribs, Decreased calvarial ossification, Hypoplastic pubic bone, Short neck, Short long... |
OMIM:617925 |
| Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Abnormality of pelvic girdle bone morphology, Short neck, Rhizomelia, Epiphyseal stippling, Abnor... |
OMIM:302960 |
| Vertebral Hypersegmentation And Orofacial Anomalies |
|
Supernumerary ribs, Joint hypermobility, Pectus excavatum, Scapular winging, Six lumbar vertebrae |
OMIM:619122 |
| Acrorenal-Mandibular Syndrome |
|
Rudimentary fibula, Toe syndactyly, Missing ribs, Foot polydactyly, Elbow flexion contracture, Hy... |
OMIM:200980 |
| Cerebral-Cerebellar-Coloboma Syndrome, X-Linked |
|
Abnormal rib morphology |
OMIM:300864 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Eosinophilia, Decreased circulating total IgM, Reduced red cell adenosine deaminase level, Autoim... |
OMIM:102700 |
| Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Decreased fertility, Testicular atrophy |
OMIM:313200 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Enlargement of the ankles, Genu varum, Enlargement of the costochondral junction, Sparse bone tra... |
ORPHA:289157 |
| Kallmann Syndrome With Spastic Paraplegia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Decreased ... |
OMIM:308750 |
| Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Brachydactyly, Craniosynostosis, Thin ribs, Short stature, Arthrogryposis multiplex congenita |
OMIM:618265 |
| 9Q21.13 Microdeletion Syndrome |
|
Craniosynostosis, Polydactyly, Scoliosis, Postnatal growth retardation, Vertebral segmentation de... |
ORPHA:531151 |
| Occipital Horn Syndrome |
|
Kyphosis, Coxa valga, Joint laxity, Osteoporosis, Platyspondyly, Pectus excavatum, Limited elbow ... |
OMIM:304150 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Decreased skull ossification, Testicular atrophy |
OMIM:601163 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Brachydactyly, Horizontal ribs, Short ribs, Lateral clavicle hook, Hypoplasia of the radius, Post... |
OMIM:617895 |
| Campomelic Dysplasia |
|
Absent sternal ossification, Narrow iliac wing, Tracheomalacia, Poorly ossified cervical vertebra... |
OMIM:114290 |
| Basal Cell Nevus Syndrome |
|
Brachydactyly, Supernumerary ribs, Irregular ossification of hand bones, Short distal phalanx of ... |
OMIM:109400 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Hyperextensibility at elbow, Absent thumb, Cervical ribs, Intrauterine growth retardation, Propor... |
ORPHA:500150 |
| Schwartz-Jampel Syndrome |
|
Abnormally straight spine, Osteoporosis, Abnormal rib morphology, Protrusio acetabuli, Scoliosis,... |
ORPHA:800 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Brachydactyly, Delayed closure of the anterior fontanelle, 11 pairs of ribs, Clinodactyly of the ... |
OMIM:607872 |
| Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Hemolytic anemia, Lymphopenia, Thrombocytopenia |
OMIM:616744 |
| Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:97330 |
| Vacterl/Vater Association |
|
Abnormal sacrum morphology, Finger syndactyly, Intrauterine growth retardation, Abnormal rib morp... |
ORPHA:887 |
| Xylt1-Cdg |
|
Clinodactyly, Short long bone, Coxa valga, Short femoral neck, Joint laxity, Joint dislocation, G... |
ORPHA:370930 |
| Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Kyphosis, Finger syndactyly, Severe short stature, Tapered finger, Abnormal rib morphology, Pectu... |
ORPHA:2215 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Clinodactyly, Abnormal rib morphology, Scoliosis, Narrow chest, Brachydactyly, Bowing of the long... |
ORPHA:95699 |
| Osteogenesis Imperfecta |
|
Fractures of the long bones, Cervical kyphosis, Abnormal hip bone morphology, Osteoporosis, Decre... |
ORPHA:666 |
| Hemochromatosis, Type 3 |
|
Neutropenia, Anemia, Lymphopenia |
OMIM:604250 |
| Eiken Syndrome |
|
Clinodactyly, Flattened epiphysis, Delayed ossification of carpal bones, Type A1 brachydactyly, F... |
OMIM:600002 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Abnormal distal phalanx morphology of finger, Metaphyseal spurs, Abnormality of the costochondral... |
ORPHA:96334 |
| Otopalatodigital Syndrome Type 2 |
|
Synostosis of carpal bones, Bowing of the long bones, Carpal synostosis, Increased bone mineral d... |
ORPHA:90652 |
| Immunodeficiency 31C |
|
Autoimmune hemolytic anemia, Lymphopenia |
OMIM:614162 |
| Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Absent thumb, Hypoplasia of the ulna, Supernumerary ribs, Fibular hypoplasia, Short stature, Shor... |
OMIM:612447 |
| Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Lymphopenia |
OMIM:207731 |
| Pallister-Hall Syndrome |
|
Distal arthrogryposis, Mesoaxial polydactyly, Radial head subluxation, Supernumerary metacarpal b... |
ORPHA:672 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Distal symphalangism, Clinodactyly of the 5th finger, Cone-shaped epiphysis, Hypoplastic iliac wi... |
OMIM:210720 |
| Sneddon Syndrome |
|
Decreased circulating total IgM, Lymphopenia |
OMIM:182410 |
| Weill-Marchesani Syndrome 1 |
|
Brachydactyly, Joint stiffness, Broad metatarsal, Thin bony cortex, Lumbar hyperlordosis, Scolios... |
OMIM:277600 |
| Autosomal Dominant Popliteal Pterygium Syndrome |
|
Toe syndactyly, Joint stiffness, Finger syndactyly, Popliteal pterygium, Abnormal rib morphology,... |
ORPHA:1300 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Decreased calvarial ossification, Aplasia/Hypoplasia involving the carpal bones, Aplasia of the u... |
OMIM:276820 |
| Cleidocranial Dysplasia |
|
Short middle phalanx of the 2nd finger, Hypoplastic iliac wing, Scoliosis, Narrow chest, Abnormal... |
OMIM:119600 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Abnormality of B cell phy... |
OMIM:613179 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Osteopenia, Thin ribs, Lumbar hemivertebrae, Abnormal bone ossification, Thin metatarsal cortices... |
ORPHA:2463 |
| X-Linked Lymphoproliferative Disease |
|
Pancytopenia, Decreased circulating IgG level, Histiocytosis, Absent natural killer cells, Increa... |
ORPHA:2442 |
| Pgm3-Cdg |
|
Eosinophilia, T lymphocytopenia, Reduced antigen-specific T cell proliferation, Leukopenia, Decre... |
ORPHA:443811 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Aplasia/Hypoplasia involving the pelvis, Missing ribs, Abnormally ossified vertebrae, Abnormal ri... |
ORPHA:3301 |
| Renal Dysplasia-Limb Defects Syndrome |
|
Short neck, Phocomelia, Intrauterine growth retardation, Short sternum, Short ribs, Thin ribs, Sh... |
OMIM:266910 |
| Antley-Bixler Syndrome |
|
Craniosynostosis, Joint stiffness, Recurrent fractures, Camptodactyly of finger, Abnormal rib mor... |
ORPHA:83 |
| Kagami-Ogata Syndrome |
|
Flexion contracture, Coxa valga, Thin ribs, Long fingers, Long clavicles, Bell-shaped thorax, Kyp... |
OMIM:608149 |
| Ellis-Van Creveld Syndrome |
|
Cone-shaped epiphyses of phalanges 2 to 5, Horizontal ribs, Neonatal short-limb short stature, Sh... |
OMIM:225500 |
| Mucopolysaccharidosis, Type Iiid |
|
Achilles tendon contracture, Ovoid thoracolumbar vertebrae, Thoracic scoliosis, Short neck, Joint... |
OMIM:252940 |
| Myotonic Dystrophy 1 |
|
Cholelithiasis, Hypogonadism, Testicular atrophy |
OMIM:160900 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Brachydactyly, Horizontal ribs, Irregular epiphyses, Hypoplasia of the ulna, Foot polydactyly, Me... |
OMIM:208500 |
| Myhre Syndrome |
|
Brachydactyly, Joint stiffness, Short palm, Abnormality of epiphysis morphology, Intrauterine gro... |
ORPHA:2588 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Anterior atlanto-occipital dislocation, Tracheomalacia, Large joint dislocations, Osteoporosis, S... |
ORPHA:536467 |
| Aarskog-Scott Syndrome |
|
Short neck, Cryptorchidism, Elevated circulating luteinizing hormone level, Shawl scrotum, Decrea... |
OMIM:305400 |
| Gm1 Gangliosidosis Type 1 |
|
Short long bone, Spatulate ribs, Intrauterine growth retardation, Hypoplastic vertebral bodies, F... |
ORPHA:79255 |
| Wiskott-Aldrich Syndrome, Autosomal Dominant |
|
Decreased circulating total IgM, Increased circulating IgA level, Absent microvilli on the surfac... |
OMIM:600903 |
| Nestor-Guillermo Progeria Syndrome |
|
Flexion contracture, Joint stiffness, Delayed closure of the anterior fontanelle, Thin ribs, Oste... |
OMIM:614008 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Brachydactyly, Horizontal ribs, Disproportionate shortening of the tibia, Short long bone, Short ... |
