| Klippel-Feil Syndrome 3, Autosomal Dominant |
|
Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion |
OMIM:613702 |
| Isolated Klippel-Feil Syndrome |
|
Spina bifida, Short neck, Abnormal sacrum morphology, Abnormal rib morphology, Abnormal shoulder ... |
ORPHA:2345 |
| Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Short neck, Fused cervical vertebrae, Scoliosis, Cervical C2/C3 vertebral fusion, Sprengel anomaly |
OMIM:214300 |
| X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Abnormal sacrum morphology, Fused cervical vertebrae, Short middle phalanx of finger, Scoliosis, ... |
ORPHA:1436 |
| Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Finger syndactyly, Delayed skeletal maturation, Abnormality of the elbow, Abnormal rib morphology... |
ORPHA:3268 |
| Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Back pain, Vertebral fusion, Death in infancy, Block vertebrae, Abnormal odontoid process morphol... |
OMIM:277300 |
| Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ... |
OMIM:606842 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormal clavicle morphology, Hyperlordosis, Short neck, Kyphosis, Pectus excavatum, Abnormal rib... |
ORPHA:2522 |
| Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
|
Prominent metopic ridge, Fused cervical vertebrae, Short middle phalanx of finger, Scoliosis, Tho... |
OMIM:309620 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Absent phalangeal c... |
OMIM:618469 |
| Wildervanck Syndrome |
|
Fused cervical vertebrae |
OMIM:314600 |
| Heart Defects-Limb Shortening Syndrome |
|
Death in infancy, Accelerated skeletal maturation, Kyphosis, Abnormal rib morphology, Abnormal fo... |
ORPHA:1354 |
| Spondylocostal Dysostosis 5 |
|
Vertebral fusion, Low back pain, Short neck, Missing ribs, Hemivertebrae, Pectus carinatum, Poste... |
OMIM:122600 |
| Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Amegakaryocytic thrombocytopenia, Finger syndactyly, Radioulnar synostosis, Hip dysplasia, Clinod... |
ORPHA:71289 |
| Diaphanospondylodysostosis |
|
Missing ribs, Short neck, Myelomeningocele, Short thorax, Enlarged thorax, Narrow pelvis bone, Ab... |
ORPHA:66637 |
| Familial Congenital Mirror Movements |
|
Fused cervical vertebrae |
ORPHA:238722 |
| Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Short neck, Abnormal rib morphology, Scoliosis, Cervical C2/C3 vertebral fusion, Sprengel anomaly... |
OMIM:118100 |
| Kniest Dysplasia |
|
Arthropathy, Enlarged epiphyses, Enlarged joints, Abnormality of the epiphysis of the femoral hea... |
ORPHA:485 |
| Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Sclerotic vertebral body, Generalized osteosclerosis, Abnormal rib mor... |
ORPHA:2790 |
| Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Vertebral fusion, Sacral dimple, Death in infancy, Short thorax, Vertebral segmentation defect, S... |
OMIM:618845 |
| Spondylometaphyseal Dysplasia, Type A4 |
|
Brachydactyly, Ovoid vertebral bodies, Coxa valga, Metaphyseal sclerosis, Enlargement of the cost... |
OMIM:609052 |
| Microcephaly With Cervical Spine Fusion Anomalies |
|
Vertebral fusion, Spinal instability |
OMIM:251250 |
| Fibrodysplasia Ossificans Progressiva |
|
Hallux valgus, Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ecto... |
OMIM:135100 |
| Wildervanck Syndrome |
|
Fused cervical vertebrae, Meningocele, Short neck |
ORPHA:3456 |
| Atelosteogenesis, Type I |
|
Short neck, Short metatarsal, Tibial bowing, Knee dislocation, Narrow chest, Neonatal death, Vert... |
OMIM:108720 |
| Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Brachydactyly, Bifid distal phalanx of the thumb, Triangular shaped distal phalanx of the thumb, ... |
ORPHA:370010 |
| Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ... |
OMIM:609813 |
| Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
|
Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies, Posteri... |
ORPHA:2064 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ... |
ORPHA:3320 |
| Kyphomelic Dysplasia |
|
Bowing of the long bones, Anterior rib cupping, Missing ribs, Lateral clavicle hook, Joint stiffn... |
ORPHA:1801 |
| Lamb-Shaffer Syndrome |
|
Fused cervical vertebrae, Hip dysplasia, Thoracic kyphosis, Scoliosis |
ORPHA:530983 |
| Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Short neck, Vertebral clefting, Hemivertebrae, Rib fusion, Vertebral segmentation defect |
OMIM:608681 |
| Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
| Metatropic Dysplasia |
|
Abnormal metaphyseal vascular invasion, Enlarged joints, Flexion contracture, Long coccyx, Halber... |
OMIM:156530 |
| Metatropic Dysplasia |
|
Abnormal intervertebral disk morphology, Camptodactyly of finger, Abnormal enchondral ossificatio... |
ORPHA:2635 |
| Frontometaphyseal Dysplasia 1 |
|
Carpal synostosis, Limited elbow movement, Knee flexion contracture, Increased density of long bo... |
OMIM:305620 |
| Acromesomelic Dysplasia, Maroteaux Type |
|
Bowing of the long bones, Ovoid vertebral bodies, Hyperlordosis, Joint stiffness, Kyphosis, Abnor... |
ORPHA:40 |
| Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis |
|
Posterior fusion of lumbosacral vertebrae |
OMIM:192800 |
| Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Thoracolumbar scoliosis, Short neck, Flexion contracture, Cervical C2/C3 vertebral fusion, Acetab... |
OMIM:616549 |
| Spondyloepiphyseal Dysplasia Tarda, Kohn Type |
|
Abnormality of the knee, Restricted large joint movement, Platyspondyly, Abnormality of the ankle... |
ORPHA:163665 |
| Stapes Ankylosis With Broad Thumbs And Toes |
|
Toe syndactyly, Broad hallux, Proximal/middle symphalangism of 5th finger, Fused cervical vertebr... |
OMIM:184460 |
| Chromosome 8Q22.1 Duplication Syndrome |
|
Hallux valgus, Short metacarpal, Enlarged interphalangeal joints, Genu recurvatum, Interphalangea... |
OMIM:151200 |
| Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Hallux valgus, Osteopenia, Thoracic scoliosis, Short neck, Facet joint arthrosis, Osteoarthritis,... |
OMIM:618000 |
| Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Osteomyelitis, Periostitis, Osteolysis, Fused cervical vertebrae, Joint swelling, Fla... |
OMIM:612852 |
| Mesomelic Dysplasia, Kantaputra Type |
|
Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal rib morphology, ... |
ORPHA:1836 |
| Spondylometaphyseal Dysplasia, A4 Type |
|
Limitation of joint mobility, Coxa vara, Platyspondyly, Flared, irregular rib ends, Short palm |
ORPHA:168555 |
| Sprengel Deformity |
|
Rib segmentation abnormalities, Cervical segmentation defect, Hemivertebrae, Scoliosis, Sprengel ... |
OMIM:184400 |
| Fetal Akinesia Deformation Sequence 4 |
|
11 pairs of ribs, Rocker bottom foot, Short neck, Kyphosis, Prenatal death, Camptodactyly, Neonat... |
OMIM:618393 |
| Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
| Epiphyseal Dysplasia, Multiple, 6 |
|
Abnormality of the knee, Flat distal femoral epiphysis, Flat capital femoral epiphysis, Osteoarth... |
OMIM:614135 |
| Autosomal Dominant Brachyolmia |
|
Kyphoscoliosis, Increased vertebral height, Short thorax, Platyspondyly, Abnormal metaphysis morp... |
ORPHA:93304 |
| Osteogenesis Imperfecta, Type Ix |
|
Recurrent fractures, Beaded ribs, Pectus excavatum, Kyphosis, Multiple prenatal fractures, Pectus... |
OMIM:259440 |
| Acropectorovertebral Dysplasia |
|
Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Abn... |
OMIM:102510 |
| Brachyolmia, Maroteaux Type |
|
Pectus excavatum, Short thorax, Abnormal form of the vertebral bodies, Platyspondyly, Scoliosis |
ORPHA:93302 |
| Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation, Brachydactyly |
DECIPHER:8 |
| Thoracolaryngopelvic Dysplasia |
|
Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, Irregular vertebral ... |
OMIM:187760 |
| Brachydactyly, Type B1 |
|
Type B brachydactyly, Vertebral fusion, Syndactyly, Hypoplastic sacrum, Thoracolumbar scoliosis, ... |
OMIM:113000 |
| Autosomal Dominant Spondylocostal Dysostosis |
|
Hyperlordosis, Short neck, Missing ribs, Abnormal sacrum morphology, Short thorax, Abnormal rib m... |
ORPHA:1797 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Short neck, Flexion contracture, Knee flexion contracture, Intercrur... |
OMIM:265000 |
| Stuve-Wiedemann Syndrome 2 |
|
Bowing of the long bones, Death in adolescence, Short long bone, Stillbirth, Scoliosis, Camptodac... |
OMIM:619751 |
| 22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Short metacarpal, Limitation of joint mobility, Osteoarthritis, Abnormal joint morphology, Abnorm... |
ORPHA:93351 |
| Immune Thrombocytopenia |
|
Thrombocytopenia |
OMIM:188030 |
| Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Broad toe, Lumbar hyperlordosis, Enlarged metacarpal epiphyses, Cupped ribs, Enlarged epiphyses o... |
OMIM:609616 |
| Thrombocytopenia 2 |
|
Leukocytosis, Thrombocytopenia |
OMIM:188000 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral fusion, Abnormal odontoid process morphology, Block vertebrae, Short neck, Missing ribs... |
OMIM:613686 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Metaphyseal dysplasia, Short metacarpal, Lumbar hyperlordosis, Hypoplastic sacrum, Enlargement of... |
OMIM:271650 |
| Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Bruxism, Aggressive behavior |
OMIM:615493 |
| Osteomesopyknosis |
|
Increased bone mineral density, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebra... |
ORPHA:2777 |
| Multiple Synostoses Syndrome 2 |
|
Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Proximal symp... |
OMIM:610017 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad proximal phalanges of the hand, Short tubular bones of the hand, Bowing of the legs, Proxim... |
ORPHA:174 |
| Thanatophoric Dysplasia, Type Ii |
|
Small abnormally formed scapulae, Hypoplastic ilia, Wide-cupped costochondral junctions, Flared m... |
OMIM:187601 |
| Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Death in infancy, Lateral clavicle hook, Postaxial hand polydactyly, Postaxial foot polydactyly, ... |
OMIM:617405 |
| Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
| Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis |
|
Cervical C2/C3 vertebral fusion, Joint hypermobility, Camptodactyly |
OMIM:617333 |
| Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Bruxism, Aggressive behavior |
ORPHA:356996 |
| Osteoarthritis With Mild Chondrodysplasia |
|
Heberden's node, Joint stiffness, Knee osteoarthritis, Schmorl's node, Irregular vertebral endpla... |
OMIM:604864 |
| Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Pectus excavatum, Fused cervical vertebrae, Sprengel anomaly, Spina bifida occulta, Butterfly ver... |
OMIM:619227 |
| Spondylometaphyseal Dysplasia, Axial |
|
Anterior rib cupping, Proximal femoral metaphyseal irregularity, Coxa vara, Platyspondyly, Narrow... |
OMIM:602271 |
| Developmental And Speech Delay Due To Sox5 Deficiency |
|
Vertebral fusion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, 2-3 toe syndactyly, Pectus carin... |
ORPHA:313892 |
| Bleeding Disorder, Platelet-Type, 9 |
|
Thrombocytopenia |
OMIM:614200 |
| Thrombocytopenia 7 |
|
Reduced platelet alpha granules, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Red... |
OMIM:619130 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Joint laxity, Hypoplasia of the ulna, Short neck, Tapered finger, Multiple joint dislocation, Hip... |
OMIM:618395 |
| Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Dysplastic iliac wing, Lumbar hyperlordosis, Ovoid vertebral bodies, Metaphyseal spurs, Bowing of... |
OMIM:608728 |
| Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Scapular winging, Lumbar hyperlordosis, Pectus carinatum, Lumbar scoliosis, Cervical C2/C3 verteb... |
OMIM:617796 |
| Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology |
ORPHA:2435 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Elbow contracture, Multiple pterygia, Short neck, Hemivertebrae, Pectus carinatum, Knee flexion c... |
OMIM:178110 |
| Kuskokwim Syndrome |
|
Abnormal clavicle morphology, Aplasia/Hypoplasia of the patella, Joint stiffness, Abnormal form o... |
ORPHA:1149 |
| Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Superior rib anomalies, Abnormality of the cervical spine |
OMIM:307500 |
| Ring Chromosome 21 Syndrome |
|
Fused thoracic vertebrae, Syndactyly, Abnormal thorax morphology, Small hand, Scoliosis, Thoracic... |
ORPHA:1445 |
| Atelosteogenesis, Type Ii |
|
Death in infancy, Lumbar hyperlordosis, Sandal gap, Cervical kyphosis, Short neck, Increased inte... |
OMIM:256050 |
| Frontometaphyseal Dysplasia |
|
Limited elbow movement, Metaphyseal widening, Short metatarsal, Spina bifida occulta, Short phala... |
ORPHA:1826 |
| Dk Phocomelia Syndrome |
|
Phocomelia, Thrombocytopenia |
OMIM:223340 |
| Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Vertebral segmentation defect, Abnormal rib morphology, Short neck |
ORPHA:2578 |
| Axial Spondylometaphyseal Dysplasia |
|
Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal... |
ORPHA:168549 |
| Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
ORPHA:100973 |
| Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Ovoid vertebral bodies, Anterior rib cupping, Short neck, Lateral clavicle ... |
OMIM:269250 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Enlarged joints, Irregular, rachitic-like metaphyses, Short neck, Coxa vara, Pectus carinatum, Ha... |
OMIM:184252 |
| Mosaic Trisomy 20 |
|
Vertebral fusion, Down-sloping shoulders, Kyphosis, Spinal canal stenosis, Fused cervical vertebr... |
ORPHA:1724 |
| Osteogenesis Imperfecta, Type Xv |
|
Recurrent fractures, Thin ribs, Platyspondyly, Bowing of limbs due to multiple fractures, Scolios... |
OMIM:615220 |
| Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Short neck, Coxa vara, Pectus carinatum, Tibial bowing, Reduced bone mineral density, Hypoplastic... |
ORPHA:93315 |
| Poland Syndrome |
|
Syndactyly, Unilateral oligodactyly, Rib fusion, Hemivertebrae, Unilateral brachydactyly, Short r... |
OMIM:173800 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Short metacarpal, Ovoid vertebral bodies, Joint stiffness, Cupped ribs, Metaphyseal widening, Cox... |
OMIM:608940 |
| Otopalatodigital Syndrome Type 1 |
|
Bowing of the long bones, Increased bone mineral density, Sandal gap, Short hallux, Proximal plac... |
ORPHA:90650 |
| Roch-Leri Mesosomatous Lipomatosis |
|
Multiple lipomas, Thrombocytopenia |
ORPHA:529 |
| Amegakaryocytic Thrombocytopenia, Congenital, 1 |
|
Amegakaryocytic thrombocytopenia, Pancytopenia, Thrombocytopenia |
OMIM:604498 |
| Kbg Syndrome |
|
Vertebral fusion, Persistent open anterior fontanelle, Short neck, Delayed skeletal maturation, C... |
ORPHA:2332 |
| Fibrochondrogenesis 2 |
|
Hypoplastic ischia, Hypoplastic ilia, Cupped ribs, Metaphyseal widening, Hypoplastic pubic bone, ... |
OMIM:614524 |
| Sifrim-Hitz-Weiss Syndrome |
|
Tapered finger, Flat acetabular roof, Fused cervical vertebrae, Short femoral neck, Short clavicl... |
OMIM:617159 |
| Diastrophic Dysplasia |
|
Joint dislocation, Abnormal clavicle morphology, Proximal placement of thumb, Abnormal form of th... |
ORPHA:628 |
| Multiple Pterygium Syndrome, X-Linked |
|
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Flexion cont... |
OMIM:312150 |
| Pseudoachondroplasia |
|
Genu recurvatum, Limited hip extension, Spatulate ribs, Delayed epiphyseal ossification, Osteoart... |
OMIM:177170 |
| Lethal Congenital Contracture Syndrome Type 1 |
|
Recurrent fractures, Short neck, Abnormality of the elbow, Abnormal rib morphology, Limitation of... |
ORPHA:1486 |
| Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Brachydactyly, Club-shaped proximal femur, Anterior rib cupping, Hyperlordosis, Hypoplasia of the... |
OMIM:184250 |
| Nephrotic Syndrome, Type 7 |
|
Hemolytic anemia, Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrom... |
OMIM:615008 |
| Hyperlysinemia, Type I |
|
Hyperactivity, Hyperlysinemia, Hyperlysinuria, Anemia |
OMIM:238700 |
| Shashi-Pena Syndrome |
|
Short metacarpal, Accelerated skeletal maturation, Kyphosis, Osteoporosis, Scoliosis, Cervical C2... |
OMIM:617190 |
| Keratoconus Posticus Circumscriptus |
|
Limited elbow extension and supination, Short neck, Clinodactyly of the 5th finger, Abnormal vert... |
OMIM:244600 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Radial bowing, Irregular sclerotic endplates, Osteoarthritis, Ulnar bowing, Flared metaphysis, De... |
OMIM:602111 |
| Wt Limb-Blood Syndrome |
|
Pancytopenia, Ulnar deviation of the 3rd finger, Absent thumb, Short thumb, Ulnar deviation of th... |
OMIM:194350 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Abnormal clavicle morphology, Bowing of the long bones, Proximal placement of thumb, Short neck, ... |
ORPHA:93267 |
| Juberg-Hayward Syndrome |
|
Toe syndactyly, Short thumb, Hypoplasia of the radius, Abnormal finger morphology, Abnormal rib m... |
ORPHA:2319 |
| Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Short neck, Narrow chest, Radial bowing, Dumbbell-shaped long bone, Flat acetabular roof, Decreas... |
OMIM:151210 |
| Multiple Pterygium Syndrome, Lethal Type |
|
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Flexion cont... |
OMIM:253290 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia |
ORPHA:231393 |
| Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Short neck, Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Abnorm... |
ORPHA:2234 |
| Bruck Syndrome 1 |
|
Joint laxity, Hip contracture, Protrusio acetabuli, Ankle flexion contracture, Kyphosis, Elbow fl... |
OMIM:259450 |
| Fanconi Anemia, Complementation Group I |
|
Absent thumb, Short neck, Short thumb, Hypoplasia of the radius, Fused cervical vertebrae, Short ... |
OMIM:609053 |
| Lethal Congenital Contracture Syndrome 1 |
|
Neonatal death, Abnormal thorax morphology, Widening of cervical spinal canal, Arthrogryposis mul... |
OMIM:253310 |
| Becker Nevus Syndrome |
|
Cervical ribs, Pectus excavatum, Hemivertebrae, Scoliosis |
OMIM:604919 |
| Macrothrombocytopenia, Isolated, 2, Autosomal Dominant |
|
Macrothrombocytopenia |
OMIM:619840 |
| Malaria |
|
Elevated circulating C-reactive protein concentration, Thrombocytopenia, Hyperbilirubinemia, Acut... |
ORPHA:673 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
OMIM:309548 |
| Duane-Radial Ray Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Short humerus, Sandal gap, Absent thumb, Absent radius, Short... |
OMIM:607323 |
| Holt-Oram Syndrome |
|
Abnormal clavicle morphology, Finger syndactyly, Down-sloping shoulders, Absent thumb, Pectus exc... |
ORPHA:392 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Lateral clavicle hook, Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th fing... |
OMIM:274000 |
| Congenital Disorder Of Glycosylation, Type Iik |
|
Epiphyseal dysplasia, Metaphyseal dysplasia, Elevated circulating creatine kinase concentration, ... |
OMIM:614727 |
| Arnold-Chiari Malformation Type I |
|
Stiff neck, Myelopathy, Fused cervical vertebrae, Scoliosis, Cervical C2/C3 vertebral fusion, Ant... |
ORPHA:268882 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Thoracic scoliosis, Short neck, Generalized joint laxity, Thoracic kyphosis, Hypermobility of int... |
ORPHA:508498 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Vertebral fusion, Block vertebrae, Short neck, Missing ribs, Hemivertebrae, Rib fusion, Thin ribs... |
OMIM:271520 |
| Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Short humerus, Long clavicles, Lateral clavicle hook, Elbow disl... |
OMIM:171480 |
| Preeclampsia/Eclampsia 1 |
|
Proteinuria, Thrombocytopenia |
OMIM:189800 |
| Bleeding Disorder, Platelet-Type, 16 |
|
Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Impaired platele... |
OMIM:187800 |
| Thanatophoric Dysplasia, Type I |
|
Bowing of the long bones, Small abnormally formed scapulae, Short neck, Hypoplastic ilia, Wide-cu... |
OMIM:187600 |
| Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Vertebral fusion, Elbow dislocation, Kyphosis, Postaxial hand polydactyly, Hemivertebrae, Abnorma... |
ORPHA:2916 |
| Beemer Lethal Malformation Syndrome |
|
Thrombocytopenia |
OMIM:209970 |
| Achondrogenesis, Type Ib |
|
Hypoplastic ilia, Stillbirth, Narrow chest, Short ribs, Absent or minimally ossified vertebral bo... |
OMIM:600972 |
| Femoral-Facial Syndrome |
|
Short femur, Abnormal sacrum morphology, Abnormal rib morphology, Rib fusion, Coxa vara, Abnormal... |
ORPHA:1988 |
| Septopreoptic Holoprosencephaly |
|
Abnormal rib morphology, Abnormal vertebral morphology, Ethmoidal encephalocele |
ORPHA:280195 |
| Myotonia With Skeletal Abnormalities And Mental Retardation |
|
Kyphoscoliosis, Irregular femoral epiphysis, Vertebral wedging, Pectus carinatum, Bell-shaped tho... |
OMIM:255710 |
| Dyggve-Melchior-Clausen Disease |
|
Glenoid fossa hypoplasia, Short neck, Coxa vara, Pectus carinatum, Broad ribs, Iliac crest serrat... |
ORPHA:239 |
| Osteogenesis Imperfecta, Type Xviii |
|
Joint laxity, Bowing of the long bones, Thin bony cortex, Recurrent fractures, Joint hypermobilit... |
OMIM:617952 |
| Hyperprolinemia, Type I |
|
Hyperactivity, Aggressive behavior, Hyperglycinuria, Hyperprolinemia, Prolinuria, Hydroxyprolinur... |
OMIM:239500 |
| Mucopolysaccharidosis Type 4 |
|
Joint dislocation, Bowing of the long bones, Hyperlordosis, Short neck, Kyphosis, Coxa valga, Sho... |
ORPHA:582 |
| Becker Nevus Syndrome |
|
Pectus excavatum, Kyphosis, Abnormal tibia morphology, Rib fusion, Pectus carinatum, Supernumerar... |
ORPHA:64755 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Vertebral fusion, Elbow contracture, Hyperlordosis, Kyphosis, Achilles tendon contracture, Scoliosis |
OMIM:606612 |
| Acrodysplasia Scoliosis |
|
Vertebral segmentation defect, Spina bifida occulta, Scoliosis, Brachydactyly |
ORPHA:2956 |
| Melnick-Needles Syndrome |
|
Craniofacial hyperostosis, Bowing of the long bones, Delayed cranial suture closure, Coxa valga, ... |
ORPHA:2484 |
| Aarskog-Scott Syndrome |
|
Finger syndactyly, Genu recurvatum, Camptodactyly of finger, Short neck, Pectus excavatum, Small ... |
ORPHA:915 |
| Mucopolysaccharidosis, Type Iva |
|
Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening, Pectus carinatum, Ante... |
OMIM:253000 |
| Apert Syndrome |
|
Syndactyly, Finger syndactyly, Limited elbow movement, Sagittal craniosynostosis, Craniosynostosi... |
OMIM:101200 |
| Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Sandal gap, Hemivertebrae, Abnormal rib morphology, Abnormal form of the vertebral bodies, Scolio... |
ORPHA:2180 |
| Fibrochondrogenesis 1 |
|
Short neck, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Widely pate... |
OMIM:228520 |
| Gorlin Syndrome |
|
Vertebral fusion, Arachnodactyly, Hemivertebrae, Vertebral wedging, Scoliosis, Brachydactyly |
ORPHA:377 |
| Verheij Syndrome |
|
Branchial cyst, Vertebral fusion, Joint laxity, Short neck, Hemivertebrae, Hip dislocation, Short... |
OMIM:615583 |
| Achondrogenesis, Type Ii |
|
Barrel-shaped chest, Absent vertebral body mineralization, Broad long bones, Short tubular bones ... |
OMIM:200610 |
| White Forelock With Malformations |
|
Finger syndactyly, Delayed skeletal maturation, Abnormal rib morphology, Joint hyperflexibility, ... |
ORPHA:2475 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Rib segmentation abnormalities, Finger syndactyly, Abnormal intervertebral disk morphology, Campt... |
ORPHA:2311 |
| Osteogenesis Imperfecta, Type Ii |
|
Crumpled long bones, Broad long bones, Recurrent fractures, Beaded ribs, Multiple prenatal fractu... |
OMIM:166210 |
| Dyggve-Melchior-Clausen Disease |
|
Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Pectus carinatum, Femoral... |
OMIM:223800 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
11 pairs of ribs, Metaphyseal cupping of proximal phalanges, Thin ribs, Metaphyseal cupping of me... |
OMIM:300863 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropenia, Enlarged k... |
OMIM:615285 |
| Jeune Syndrome |
|
Abnormal clavicle morphology, Toe syndactyly, Postaxial hand polydactyly, Short thorax, Abnormal ... |
ORPHA:474 |
| Spondylocarpotarsal Synostosis Syndrome |
|
Short neck, Coxa vara, Pectus carinatum, Vertebral segmentation defect, Clinodactyly of the 5th f... |
OMIM:272460 |
| Endosteal Hyperostosis, Autosomal Dominant |
|
Sclerotic vertebral body, Hyperostosis, Abnormal pelvic girdle bone morphology, Metacarpal diaphy... |
OMIM:144750 |
| Phaver Syndrome |
|
Broad hallux phalanx, Camptodactyly of finger, Joint stiffness, Short thumb, Myelomeningocele, Ab... |
ORPHA:2876 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Thrombocytopenia |
OMIM:166990 |
| Achondrogenesis, Type Ia |
|
Abnormal femoral metaphysis morphology, Beaded ribs, Short neck, Bowing of the legs, Abnormal han... |
OMIM:200600 |
| Osteogenesis Imperfecta, Type Xxi |
|
Barrel-shaped chest, Recurrent fractures, Bowing of the legs, Pectus excavatum, Coxa valga, Osteo... |
OMIM:619131 |
| Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Arachnodactyly, Missing ribs, Abnormal rib morphology, Hemivertebrae, Abnormal form of the verteb... |
ORPHA:2759 |
| Cooper-Jabs Syndrome |
|
Camptodactyly of finger, Proximal placement of thumb, Missing ribs, Abnormal rib morphology, Redu... |
ORPHA:1488 |
| Bleeding Disorder, Platelet-Type, 24 |
|
Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... |
OMIM:619271 |
| Osteogenesis Imperfecta, Type Iii |
|
Protrusio acetabuli, Recurrent fractures, Severe generalized osteoporosis, Multiple prenatal frac... |
OMIM:259420 |
| Osteogenesis Imperfecta, Type Xvi |
|
Angulated humerus, Multiple rib fractures, Bowing of the long bones, Osteopenia, Recurrent fractu... |
OMIM:616229 |
| Fanconi Anemia, Complementation Group G |
|
Abnormal thumb morphology, Anemia, Neutropenia, Leukemia, Thrombocytopenia |
OMIM:614082 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Death in infancy, Proximal placement of thumb, Spina bifida, Abnormal thumb morphology, Short thu... |
ORPHA:1120 |
| Frontometaphyseal Dysplasia 2 |
|
Hip contracture, Short metacarpal, Congenital hip dislocation, Elbow contracture, Pectus excavatu... |
OMIM:617137 |
| 3M Syndrome |
|
Congenital hip dislocation, Short neck, Increased vertebral height, Enlarged thorax, Clinodactyly... |
ORPHA:2616 |
| Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal rib morphology, Abnormal form of the vertebral bodies |
ORPHA:93941 |
| Eosinophilia, Familial |
|
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia |
OMIM:131400 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Death in infancy, Hypoplastic iliac wing, Metaphyseal chondrodysplasia, Abnormality of the calcan... |
ORPHA:163966 |
| Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Genu varum, Joint laxity, Lumbar... |
OMIM:250420 |
| Thakker-Donnai Syndrome |
|
Cervical C2/C3 vertebral fusion, Hemivertebrae, Short neck |
ORPHA:1780 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Abnormal hemoglobin, Anemia |
ORPHA:3319 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Short neck, Bowing of the legs, Delayed epiphyseal ossification, Metaphyseal widening, Abnormal v... |
ORPHA:93352 |
| Basal Cell Nevus Syndrome 1 |
|
Vertebral fusion, Short distal phalanx of the thumb, Down-sloping shoulders, Kyphoscoliosis, Spin... |
OMIM:109400 |
| Caudal Regression Syndrome |
|
Missing ribs, Joint stiffness, Aplasia/Hypoplasia of the sacrum, Abnormal iliac wing morphology, ... |
ORPHA:3027 |
| Glycine Encephalopathy 1 |
|
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Hyperglycinuria, Hyperglycinemia |
OMIM:605899 |
| Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thrombocytopenia |
OMIM:133180 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Vertebral fusion, Hyperlordosis, Kyphosis, Achilles tendon contracture, Scoliosis |
OMIM:607155 |
| Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia |
OMIM:124900 |
| Atypical Hemolytic Uremic Syndrome |
|
Proteinuria, Hematuria, Microangiopathic hemolytic anemia, Acute kidney injury, Thrombocytopenia |
ORPHA:2134 |
| Cole-Carpenter Syndrome |
|
Crumpled long bones, Bowing of the long bones, Recurrent fractures, Kyphosis, Abnormal rib morpho... |
ORPHA:2050 |
| Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Craniofacial hyperostosis, Thickened ribs, Cortical sclerosis, Craniofacial osteosclerosis, Diaph... |
OMIM:122860 |
| Craniodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Abnormal rib morphology, Diaphyseal thickening |
ORPHA:1513 |
| Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Broad hallux phalanx, Toe syndactyly, Short neck, Metatarsus valgus, Kyphosis, Postaxial hand pol... |
ORPHA:3082 |
| Spondylometaphyseal Dysplasia, Algerian Type |
|
Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Anterior rib cupping, Kyphoscoliosis,... |
OMIM:184253 |
| Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Increased mean platelet volume, Enamel hypomineralization, Iron deficiency anemia, Neutropenia, T... |
ORPHA:494444 |
| Cardiospondylocarpofacial Syndrome |
|
Joint laxity, Tarsal synostosis, Delayed skeletal maturation, Rib fusion, Cone-shaped epiphysis, ... |
OMIM:157800 |
| Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Short neck, Metaphyseal widening, Flexion contracture, Coxa vara, Metaphyseal cupping of metacarp... |
OMIM:300232 |
| Grant Syndrome |
|
Joint dislocation, Bowing of the long bones, Abnormal cortical bone morphology, Abnormal rib morp... |
ORPHA:2097 |
| Niemann-Pick Disease, Type B |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow foam cells, Thrombocyt... |
OMIM:607616 |
| Bleeding Disorder, Platelet-Type, 19 |
|
Thrombocytopenia, Macrothrombocytopenia, Anemia |
OMIM:616176 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Joint laxity, Lumbar hyperlordosis, Short neck, Delayed epiphyseal ossification, Genu varum, Fibu... |
OMIM:602557 |
| Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Postaxial polydactyly, Lateral clavicle hook, Bell-shaped thorax, Short long bone, Thoracic dyspl... |
OMIM:615633 |
| Apert Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Cervical C5/C6 vertebrae fusi... |
ORPHA:87 |
| Fibrochondrogenesis |
|
Hypoplastic scapulae, Camptodactyly of finger, Short neck, Abnormal rib morphology, Abnormal form... |
ORPHA:2021 |
| Mucopolysaccharidosis, Type Iiia |
|
Thickened ribs, Joint stiffness, Ovoid thoracolumbar vertebrae, Scoliosis, Umbilical hernia, Dens... |
OMIM:252900 |
| Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Hyperactivity, Aggressive behavior |
OMIM:619031 |
| Mucopolysaccharidosis, Type X |
|
Irregular acetabular roof, Spatulate ribs, Hyperlordosis, Broad clavicles, Genu valgum, Platyspon... |
OMIM:619698 |
| Osteogenesis Imperfecta, Type Viii |
|
Barrel-shaped chest, Osteopenia, Short metacarpal, Radial bowing, Joint laxity, Recurrent fractur... |
OMIM:610915 |
| Osteogenesis Imperfecta, Type X |
|
Osteopenia, Multiple rib fractures, Thoracic scoliosis, Short femur, Bowing of the long bones, Jo... |
OMIM:613848 |
| Achondrogenesis Type 1B |
|
Short neck, Abnormal enchondral ossification, Short thorax, Abnormal rib morphology, Short foot, ... |
ORPHA:93298 |
| Platelet Signal Processing Defect |
|
Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb... |
OMIM:173590 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Anemia, Hemopha... |
OMIM:603552 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Anemia, Radioulnar synostosis, Short middle phalanx of the 4th finger, Neutropenia, Overlapping f... |
OMIM:616738 |
| Mosaic Trisomy 14 |
|
Camptodactyly of finger, Abnormal rib morphology, Narrow chest, Short neck |
ORPHA:1703 |
| Larsen Syndrome |
|
Cervical kyphosis, Short metatarsal, Pectus carinatum, Knee dislocation, Spina bifida occulta, Hy... |
OMIM:150250 |
| Bleeding Disorder, Platelet-Type, 15 |
|
Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume |
OMIM:615193 |
| Vertebral Hypersegmentation And Orofacial Anomalies |
|
Scapular winging, Pectus excavatum, Supernumerary ribs, Six lumbar vertebrae, Joint hypermobility |
OMIM:619122 |
| Dysosteosclerosis |
|
Osteopenia, Sclerosis of hand bone, Increased intervertebral space, Hypoplastic vertebral bodies,... |
OMIM:224300 |
| Greenberg Dysplasia |
|
Beaded ribs, Multiple prenatal fractures, Patchy variation in bone mineral density, Tetraphocomel... |
OMIM:215140 |
| Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Increased bone mineral density, Thin bony cortex, Short tubular bones of the hand, Co... |
ORPHA:85184 |
| Thrombocytopenia 4 |
|
Abnormal platelet volume, Thrombocytopenia |
OMIM:612004 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Erlenmeyer flask deformity of the femur... |
OMIM:610539 |
| Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Abnormally ossified vertebrae, Radial bowing, Bowing of the long bones, Abnormal rib morphology, ... |
ORPHA:3035 |
| Acrocapitofemoral Dysplasia |
|
Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short palm, Hypoplast... |
OMIM:607778 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Hip contracture, Interphalangeal joint contracture of finger, Kyphoscoliosis, Ankle flexion contr... |
ORPHA:1145 |
| Mucopolysaccharidosis, Type Ivb |
|
Epiphyseal deformities of tubular bones, Metaphyseal widening, Flaring of rib cage, Joint laxity,... |
OMIM:253010 |
| Vacterl Association With Hydrocephalus |
|
Absent thumb, Radial club hand, Stillbirth, Abnormality of the vertebral column, Abnormal vertebr... |
OMIM:276950 |
| Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Joint dislocation, Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing,... |
OMIM:618019 |
| Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
| Cenani-Lenz Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Elbow dislocation, Short thumb, Hypopl... |
ORPHA:3258 |
| Platelet Glycoprotein Iv Deficiency |
|
Giant platelets, Thrombocytopenia |
OMIM:608404 |
| Achondrogenesis Type 1A |
|
Multiple rib fractures, Recurrent fractures, Short neck, Abnormal enchondral ossification, Short ... |
ORPHA:93299 |
| Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Vertebral se... |
ORPHA:3109 |
| Otopalatodigital Syndrome Type 2 |
|
Encephalocele, Bowing of the long bones, Increased bone mineral density, Tarsal synostosis, Short... |
ORPHA:90652 |
| Alkaptonuria |
|
Arthropathy, Vertebral fusion, Low back pain, Kyphosis, Limited shoulder movement, Arthritis, Lim... |
OMIM:203500 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... |
OMIM:619041 |
| Forsythe-Wakeling Syndrome |
|
Nephrotic syndrome, Thrombocytopenia |
OMIM:613606 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
| Bilateral Striopallidodentate Calcinosis |
|
Thrombocytopenia |
ORPHA:1980 |
| Chromosome 16P13.3 Duplication Syndrome |
|
Sacral dimple, Sandal gap, Rocker bottom foot, Proximal placement of thumb, Short neck, Pectus ex... |
OMIM:613458 |
| Kbg Syndrome |
|
Vertebral fusion, Syndactyly, Short neck, Delayed skeletal maturation, Rib fusion, Vertebral arch... |
OMIM:148050 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
| Lateral Meningocele Syndrome |
|
Vertebral fusion, Short neck, Pectus excavatum, Kyphosis, Meningocele, Sclerosis of skull base, S... |
OMIM:130720 |
| Fanconi Anemia, Complementation Group T |
|
Acute myeloid leukemia, Pancytopenia, Duplication of thumb phalanx, Thrombocytopenia, Short thumb... |
OMIM:616435 |
| Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Craniofacial hyperostosis, Hyperlordosis, Delayed skeletal maturation, Limitation of joint mobili... |
ORPHA:3068 |
| Hemangioma-Thrombocytopenia Syndrome |
|
Hyperkalemia, Microangiopathic hemolytic anemia, Thrombocytopenia |
OMIM:141000 |
| Acute Myelomonocytic Leukemia |
|
Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia |
ORPHA:517 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom... |
ORPHA:75564 |
| Mucopolysaccharidosis, Type Iiib |
|
Thickened ribs, Ovoid thoracolumbar vertebrae, Dense calvaria, Joint stiffness |
OMIM:252920 |
| Campomelia, Cumming Type |
|
Death in infancy, Abnormally ossified vertebrae, Bowing of the long bones, Abnormal thorax morpho... |
ORPHA:1318 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... |
OMIM:314050 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Long clavicles, Arachnodactyly, Overlapping toe, Contracture of the distal interphalangeal joint ... |
ORPHA:83617 |
| Pseudo-Von Willebrand Disease |
|
Intermittent thrombocytopenia |
OMIM:177820 |
| Bent Bone Dysplasia Syndrome 2 |
|
Osteopenia, Bowed humerus, Short neck, Ulnar bowing, Thin ribs, Femoral bowing, Coronal cleft ver... |
OMIM:620076 |
| Sillence Syndrome |
|
Back pain, Large iliac wing, Abnormal vertebral morphology, Large tarsal bones, Flat acetabular r... |
ORPHA:3168 |
| Mucopolysaccharidosis Type 6 |
|
Epiphyseal dysplasia, Ovoid vertebral bodies, Short neck, Joint stiffness, Kyphosis, Genu valgum,... |
ORPHA:583 |
| Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Abnormal thorax morphology, Metaphyseal widening, Abnormal form of the vertebral bodies, Thin rib... |
ORPHA:73230 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Proximal radio-ulnar synostosis, Amegakaryocytic thrombocytopenia, Syndactyly, Radial bowing, Apl... |
OMIM:605432 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Short neck, Hemivertebrae, Short palm, Thoracic hemivertebrae, Duplication of the distal phalanx ... |
OMIM:268310 |
| Refractory Anemia |
|
Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm... |
ORPHA:98826 |
| Amed Syndrome, Digenic |
|
Acute myeloid leukemia, Anemia, Leukopenia, Attention deficit hyperactivity disorder, Long thumb,... |
OMIM:619151 |
| Cantú Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Ovoid vertebral bodies, Short hallux, Short neck, Coxa v... |
ORPHA:1517 |
| Chops Syndrome |
|
Tracheomalacia, Cervical C2/C3 vertebral fusion, Brachydactyly |
OMIM:616368 |
| Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, Macrothrombocytopenia, Gia... |
OMIM:155100 |
| Transcobalamin Deficiency |
|
Pancytopenia, Methylmalonic aciduria, Neutropenia, Lymphopenia, Acute kidney injury, Thrombocytop... |
ORPHA:859 |
| Cole-Carpenter Syndrome 2 |
|
Osteopenia, Wide cranial sutures, Recurrent fractures, Pectus excavatum, Kyphosis, Thin ribs, Pla... |
OMIM:616294 |
| Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Slender long bone, Abnormal pelvic girdle bone morphology, Abnormal rib morphology |
ORPHA:1506 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Occipital encephalocele, Bowing of the long bones, Anisospondyly, Short long bone, Neonatal death... |
OMIM:224410 |
| Three M Syndrome 2 |
|
Scapular winging, Lumbar hyperlordosis, Hyperlordosis, Short neck, Delayed skeletal maturation, S... |
OMIM:612921 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hypertriglyceridemia, Splenomegaly, Thrombocytopenia, Increased circulating ferritin concentratio... |
OMIM:613101 |
| Thrombotic Thrombocytopenic Purpura |
|
Reticulocytosis, Renal insufficiency, Proteinuria, Hematuria, Microangiopathic hemolytic anemia, ... |
ORPHA:54057 |
| Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Hematuria, Glomerulonephritis, Thrombocytopenia |
OMIM:314000 |
| Acro-Renal-Mandibular Syndrome |
|
Abnormal clavicle morphology, Hypoplasia of the ulna, Hypoplastic scapulae, Finger syndactyly, Sh... |
ORPHA:958 |
| Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Pectus excavatum, Hypoplastic distal segments of scapulae, Abnormal rib morphology, Joint hypermo... |
OMIM:602196 |
| Mucopolysaccharidosis, Type Iiic |
|
Thickened ribs, Kyphoscoliosis, Joint stiffness, Ovoid thoracolumbar vertebrae, Beaking of verteb... |
OMIM:252930 |
| Lethal Kniest-Like Dysplasia |
|
Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Short neck, Hypoplastic ilia... |
ORPHA:2347 |
| Gm1-Gangliosidosis, Type I |
|
Death in infancy, Thickened ribs, Short neck, Joint stiffness, Kyphosis, Hypoplastic vertebral bo... |
OMIM:230500 |
| Holzgreve Syndrome |
|
Abnormally ossified vertebrae, Abnormal morphology of ulna, Joint stiffness, Abnormal rib morphol... |
ORPHA:2167 |
| Acromesomelic Dysplasia 4 |
|
Thoracic scoliosis, Accelerated skeletal maturation, Short metatarsal, Short phalanx of finger, G... |
OMIM:619636 |
| Phenylketonuria |
|
Maternal hyperphenylalaninemia, Hyperactivity, Increased level of hippuric acid in urine, Elevate... |
OMIM:261600 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Thrombocytopenia, Chronic neutropenia, Anemia |
OMIM:619302 |
| Mucolipidosis Iii Alpha/Beta |
|
Soft tissue swelling of interphalangeal joints, Craniosynostosis, Irregular carpal bones, Split h... |
OMIM:252600 |
| Lymphangiectasia, Intestinal |
|
Stillbirth, Prominent floating ribs |
OMIM:152800 |
| Koolen-De Vries Syndrome |
|
Vertebral fusion, Arachnodactyly, Pectus excavatum, Kyphosis, Hip dislocation, Joint hyperflexibi... |
ORPHA:96169 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
| Giant platelet syndrome with thrombocytopenia |
|
Giant platelets, Thrombocytopenia |
OMIM:137560 |
| Bone Marrow Failure Syndrome 2 |
|
Leukopenia, Thrombocytopenia, Anemia |
OMIM:615715 |
| Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Sprengel anomaly, Abnormality of the vertebral column, Abnormal rib morphology |
OMIM:601076 |
| Brachytelephalangic Chondrodysplasia Punctata |
|
Cervical kyphosis, Hypoplastic cervical vertebrae, Vertebral hypoplasia, Calcaneal epiphyseal sti... |
ORPHA:79345 |
| Cleidocranial Dysplasia |
|
Coxa vara, Narrow chest, Hypoplastic inferior ilia, Clinodactyly of the 5th finger, Decreased sku... |
ORPHA:1452 |
| Familial Osteodysplasia, Anderson Type |
|
Recurrent fractures, Aplastic clavicle, Missing ribs, Elbow dislocation, Kyphosis, Abnormal rib m... |
ORPHA:2769 |
| Wolfram Syndrome, Mitochondrial Form |
|
Sideroblastic anemia, Hydroureter, Megaloblastic anemia, Neutropenia, Hydronephrosis, Thrombocyto... |
OMIM:598500 |
| Gray Platelet Syndrome |
|
Splenomegaly, Abnormality of thrombocytes, Thrombocytopenia |
ORPHA:721 |
| Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Missing ribs, Short neck, Lumbar hemivertebrae, Clinodactyly of the 5th finger, Neonatal death |
OMIM:619859 |
| X-Linked Hypophosphatemia |
|
Beaded ribs, Bowing of the legs, Generalized osteosclerosis, Bone pain, Trapezoidal distal femora... |
ORPHA:89936 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote... |
ORPHA:158057 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Osteopenia, Multiple rib fractures, Short femur, Fractured radius, Beaded ribs, Short neck, Decre... |
OMIM:616897 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short metacarpal, Abnormal scapula morphology, Iliac crest serration, Accelerated skeletal matura... |
ORPHA:93317 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, Lipodystrophy, Elevated circulating C-reactive protein concentration, B ... |
OMIM:618048 |
| Fetal Parvovirus Syndrome |
|
Thrombocytopenia, Anemia |
ORPHA:295 |
| Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Thrombocytopenia |
OMIM:619301 |
| Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto... |
OMIM:159550 |
| Rapidly Involuting Congenital Hemangioma |
|
Lipoatrophy, Thrombocytopenia |
ORPHA:141184 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, An... |
OMIM:612924 |
| Sea-Blue Histiocyte Disease |
|
Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis |
OMIM:269600 |
| Prune Belly Syndrome |
|
Congenital hip dislocation, Pectus excavatum, Abnormal rib morphology, Vertebral segmentation def... |
ORPHA:2970 |
| Craniometadiaphyseal Dysplasia |
|
Osteopenia, Broad long bones, Coxa valga, Cubitus valgus, Flared metaphysis, Genu valgum, Scleros... |
OMIM:269300 |
| Axial Mesodermal Dysplasia Spectrum |
|
Abnormality of the knee, Short neck, Missing ribs, Abnormal rib morphology, Abnormal form of the ... |
ORPHA:1834 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Ovoid vertebral bodies, Metaphyseal ... |
ORPHA:85167 |
| Fanconi Anemia, Complementation Group V |
|
Anemia, Elevated circulating alpha-fetoprotein concentration, Thrombocytopenia, Neutropenia |
OMIM:617243 |
| Pelger-Huet Anomaly |
|
Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Upper limb un... |
OMIM:169400 |
| Poland Syndrome |
|
Aplasia/Hypoplasia of the thumb, Short neck, Hemivertebrae, Pectus carinatum, Reduced bone minera... |
ORPHA:2911 |
| Slc35A1-Cdg |
|
Giant platelets, Neutropenia, Cellulitis, Abnormal platelet granules, Thrombocytopenia |
ORPHA:238459 |
| Polycythemia Vera |
|
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, An... |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, An... |
OMIM:612922 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, An... |
OMIM:612926 |
| Thrombocytopenia, Paris-Trousseau Type |
|
Clinodactyly, Radial deviation of finger, Thrombocytopenia |
OMIM:188025 |
| Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Vertebral fusion, Sacral dimple, Hyperextensibility of the finger joints, Overlapping toe, Cranio... |
OMIM:213980 |
| Autoinflammation With Infantile Enterocolitis |
|
Pancytopenia, Elevated circulating C-reactive protein concentration, Splenomegaly, Increased circ... |
OMIM:616050 |
| Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Anterior wedging of T12, Pectus carinatum, Long fibula, Short palm, Short phalanx of finger, Broa... |
OMIM:300106 |
| Wiskott-Aldrich Syndrome 2 |
|
Decreased proportion of CD8-positive T cells, Thrombocytopenia |
OMIM:614493 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St... |
OMIM:612925 |
| Babesiosis |
|
Hemolytic anemia, Renal insufficiency, Anorexia, Clinodactyly of the 5th toe, Splenomegaly, Leuko... |
ORPHA:108 |
| Osteogenesis Imperfecta, Type Vii |
|
Osteopenia, Death in infancy, Multiple rib fractures, Crumpled long bones, Wide cranial sutures, ... |
OMIM:610682 |
| Pyknoachondrogenesis |
|
Craniofacial hyperostosis, Abnormal intramembranous ossification, Hypoplastic ischia, Short iliac... |
ORPHA:3003 |
| Aicardi-Goutieres Syndrome 3 |
|
Thrombocytopenia, Hepatosplenomegaly |
OMIM:610329 |
| Microphthalmia, Syndromic 3 |
|
Vertebral fusion, Missing ribs, Rib fusion, Hemivertebrae, Supernumerary ribs, Butterfly vertebra... |
OMIM:206900 |
| Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Inguinal hernia, Impulsivity, Aggressive behavior, Frequent temper tantrums, Atten... |
OMIM:620141 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Renal insufficiency, Anorexia, Splenomegaly, Hyperammonemia, Anemia, Neutropenia, Thrombocytopenia |
ORPHA:79312 |
| Cernunnos-Xlf Deficiency |
|
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia |
ORPHA:169079 |
| Leishmaniasis |
|
Pancytopenia, Abnormal macrophage morphology, Anorexia, Splenomegaly, Anemia, Leukopenia, Hypoalb... |
ORPHA:507 |
| Kyphomelic Dysplasia |
|
Short humerus, Short metacarpal, Radial bowing, Short femur, Anterior rib cupping, Bowed humerus,... |
OMIM:211350 |
| Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Nail-biting, Hyperactivity, Aggressive behavior, Nephrolithiasis, Self-biting, Self-injurious beh... |
OMIM:619827 |
| Sacral Agenesis With Vertebral Anomalies |
|
Neonatal death, Absence of the sacrum, Vertebral clefting, Abnormal vertebral morphology |
OMIM:615709 |
| Phosphoglycerate Dehydrogenase Deficiency |
|
Adducted thumb, Thrombocytopenia, Megaloblastic anemia |
OMIM:601815 |
| Holt-Oram Syndrome |
|
Syndactyly, Thoracic scoliosis, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Pectu... |
OMIM:142900 |
| Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder |
OMIM:619927 |
| Lymphoproliferative Syndrome 1 |
|
Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,... |
OMIM:613011 |
| Cartilage-Hair Hypoplasia |
|
Short neck, Accelerated skeletal maturation, Metaphyseal chondrodysplasia, Abnormal form of the v... |
ORPHA:175 |
| Multiple Synostoses Syndrome 1 |
|
Hypoplastic spinal processes, Symphalangism affecting the phalanges of the hand, Cutaneous finger... |
OMIM:186500 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Delayed skeletal maturation, Abnormal rib morphology, Abnormal epiphysis morphology, Brachydactyly |
ORPHA:2643 |
| Faciodigitogenital Syndrome, Autosomal Recessive |
|
Vertebral fusion, Syndactyly, Down-sloping shoulders, Pectus excavatum, Metatarsus adductus, Hype... |
OMIM:227330 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Short neck, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, Flexion contr... |
OMIM:271640 |
| Cerebrofaciothoracic Dysplasia |
|
Short neck, Hemivertebrae, Rib fusion, Vertebral segmentation defect, Narrow chest, Scoliosis, Bi... |
ORPHA:1394 |
| Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Bifid sternum, Supraumbilical raphe |
OMIM:140850 |
| 8p23.1 deletion syndrome |
|
Hyperactivity, Congenital diaphragmatic hernia |
DECIPHER:39 |
| Cartilage-Hair Hypoplasia |
|
Joint laxity, Metaphyseal dysplasia, Lumbar hyperlordosis, Flaring of lower rib cage, Hypoplasia ... |
OMIM:250250 |
| Thrombocytopenia 5 |
|
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... |
OMIM:616216 |
| 10Q22.3Q23.3 Microduplication Syndrome |
|
Abnormal clavicle morphology, Abnormal rib morphology |
ORPHA:276422 |
| Bleeding Disorder, Platelet-Type, 20 |
|
Thrombocytopenia |
OMIM:616913 |
| Von Willebrand Disease, Type 2 |
|
Thrombocytopenia |
OMIM:613554 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short neck, Delayed epiphyseal ossification, Long fibula, Narrow chest, Narrow greater sciatic no... |
OMIM:250220 |
| Bernard-Soulier Syndrome |
|
Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Impaired ristocetin-induced platelet ag... |
OMIM:231200 |
| Thyrocerebrorenal Syndrome |
|
Renal insufficiency, Nephritis, Thrombocytopenia |
ORPHA:3327 |
| Mosaic Trisomy 8 |
|
Camptodactyly of finger, Short neck, Patellar aplasia, Abnormal rib morphology, Limitation of joi... |
ORPHA:96061 |
| Folate Malabsorption, Hereditary |
|
Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia |
OMIM:229050 |
| Koolen-De Vries Syndrome |
|
Vertebral fusion, Sacral dimple, Prominent metopic ridge, Pectus excavatum, Kyphosis, Hip disloca... |
OMIM:610443 |
| Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Impaired platelet aggregation, Macrothrombocytopenia |
OMIM:613112 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Short humerus, Sacral dimple, Proximal placement of thumb, Absent radius, Abnormality of the vert... |
OMIM:314390 |
| Hypophosphatasia |
|
Bowing of the long bones, Recurrent fractures, Craniosynostosis, Abnormal rib morphology, Narrow ... |
ORPHA:436 |
| Aicardi Syndrome |
|
Block vertebrae, Missing ribs, Rib fusion, Small hand, Hip dysplasia, Supernumerary ribs, Scolios... |
ORPHA:50 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Renal insufficiency, Hyperammonemia, Renal tubular dysfunction, Anemia, Neutropenia, Thrombocytop... |
ORPHA:289916 |
| Opsismodysplasia |
|
Short metacarpal, Anterior rib cupping, Short neck, Hypoplasia of the odontoid process, Squared i... |
OMIM:258480 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Proteinuria, Macrothrombocytopenia, Aminoaciduria, Neutropenia, Clinodactyly, Decreased platelet ... |
OMIM:603585 |
| Diffuse Neonatal Hemangiomatosis |
|
Thrombocytopenia, Renal insufficiency, Hypercalcemia, Anemia |
ORPHA:2123 |
| Sitosterolemia 1 |
|
Reticulocytosis, Hyperapobetalipoproteinemia, Reduced haptoglobin level, Thrombocytopenia, Spleno... |
OMIM:210250 |
| Preeclampsia |
|
Proteinuria, Chronic kidney disease, Elevated circulating creatinine concentration, Acute kidney ... |
ORPHA:275555 |
| Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
| Aicardi-Goutieres Syndrome 6 |
|
Splenomegaly, Hemolytic anemia, Thrombocytopenia |
OMIM:615010 |
| Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Joint hyperflexibility, Decreased calvarial ossification, Abnormal rib morphology, Recurrent frac... |
ORPHA:2772 |
| Moyamoya Disease With Early-Onset Achalasia |
|
Abnormal platelet aggregation, Thrombocytopenia |
ORPHA:401945 |
| Acro-Renal-Ocular Syndrome |
|
Vertebral fusion, Finger syndactyly, Hypoplasia of the ulna, Broad hallux phalanx, Toe syndactyly... |
ORPHA:959 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Thoracic hypoplasia, Metaphyseal spurs, Postaxial polydactyly, Lateral cl... |
OMIM:613091 |
| Immunodeficiency 32B |
|
Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Hypoalbuminemia, Mono... |
OMIM:226990 |
| Radio-Renal Syndrome |
|
Short neck, Hypoplasia of the radius, Abnormal rib morphology, Abnormality of the elbow, Abnormal... |
ORPHA:3015 |
| Cat-Eye Syndrome |
|
Hip dysplasia, Abnormal rib morphology |
ORPHA:195 |
| Hurler Syndrome |
|
Death in infancy, Abnormal clavicle morphology, Camptodactyly of finger, Short neck, Abnormality ... |
ORPHA:93473 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Tracheomalacia, Small hand, Fibular hypoplasia, Hypoplasia of proximal radius, Wormian bones, Cer... |
ORPHA:444077 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentration, Splenomegal... |
OMIM:308240 |
| Fibrous Dysplasia Of Bone |
|
Abnormal clavicle morphology, Abnormal tibia morphology, Bone pain, Abnormal femur morphology, Co... |
ORPHA:249 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Refractory anemia, Leukopenia, Diaphyseal dysplasia, Thrombocytopenia |
OMIM:231095 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Pancytopenia, Proteinuria, Polyuria, Renal salt wasting, Chronic kidney disease, In... |
OMIM:613845 |
| Isolated Agammaglobulinemia |
|
Abnormality of neutrophils, Clinodactyly of the 5th toe, Thrombocytopenia, Cellulitis, Abnormal l... |
ORPHA:229717 |
| Systemic Lupus Erythematosus 17 |
|
Leukopenia, Lymphopenia, Thrombocytopenia, Autoimmune thrombocytopenia |
OMIM:301080 |
| Postaxial Acrofacial Dysostosis |
|
Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Pectus excavatum, Short thumb, Hy... |
OMIM:263750 |
| Transaldolase Deficiency |
|
Hepatosplenomegaly, Anemia, Abnormal circulating glutamine concentration, Increased serum bile ac... |
ORPHA:101028 |
| Autosomal Recessive Kenny-Caffey Syndrome |
|
Stenosis of the medullary cavity of the long bones, Thin clavicles, Delayed skeletal maturation, ... |
ORPHA:93324 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity, Inflexible adherence to routines |
OMIM:301076 |
| Meier-Gorlin Syndrome 1 |
|
Genu recurvatum, Lateral clavicle hook, Flat glenoid fossa, Hemivertebrae, Flexion contracture, P... |
OMIM:224690 |
| 2Q23.1 Microdeletion Syndrome |
|
Hyperactivity, Hypoplasia of penis, Sandal gap, Polyphagia, Self-injurious behavior, Hip dysplasi... |
ORPHA:228402 |
| Orofaciodigital Syndrome Iii |
|
Pectus excavatum, Kyphosis, Postaxial hand polydactyly, Postaxial foot polydactyly, Short sternum |
OMIM:258850 |
| Pontine Tegmental Cap Dysplasia |
|
Ankle clonus, Rib fusion, Hemivertebrae, Scoliosis |
OMIM:614688 |
| Fibular Hemimelia |
|
Bowing of the legs, Tibial bowing, Foot oligodactyly, Short tibia, Arthralgia of the hip, Finger ... |
ORPHA:93323 |
| Alagille Syndrome |
|
Hypoplasia of the ulna, Delayed skeletal maturation, Abnormal rib morphology, Abnormal form of th... |
ORPHA:52 |
| Aicardi Syndrome |
|
Block vertebrae, Spina bifida, Missing ribs, Proximal placement of thumb, Rib fusion, Hemivertebr... |
OMIM:304050 |
| Ivic Syndrome |
|
Aplastic clavicle, Preaxial hand polydactyly, Leukocytosis, Hypoplasia of the radius, Short thumb... |
ORPHA:2307 |
| Specific Granule Deficiency 2 |
|
Absent neutrophil specific granules, Brachydactyly, Sandal gap, Anemia, Neutropenia, Thrombocytop... |
OMIM:617475 |
| Shwachman-Diamond Syndrome 1 |
|
Anterior rib cupping, Ovoid vertebral bodies, Metaphyseal sclerosis, Enlargement of the costochon... |
OMIM:260400 |
| Drug-Induced Lupus Erythematosus |
|
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... |
ORPHA:231111 |
| Atelis Syndrome 1 |
|
Leukopenia, Thrombocytopenia, Anemia, Attention deficit hyperactivity disorder |
OMIM:620184 |
| Simpson-Golabi-Behmel Syndrome |
|
Vertebral fusion, Death in infancy, Congenital hip dislocation, Finger syndactyly, Toe syndactyly... |
ORPHA:373 |
| Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Short neck, Bowing of the legs, Triangular shaped distal phalanges of the hand, Pectus carinatum,... |
OMIM:271665 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy... |
OMIM:300835 |
| 3-Methylglutaconic Aciduria Type 4 |
|
3-Methylglutaconic aciduria, Thrombocytopenia |
ORPHA:67048 |
| Mucopolysaccharidosis, Type Vi |
|
Metaphyseal widening, Flexion contracture, Pectus carinatum, Hypoplastic iliac wing, Broad ribs, ... |
OMIM:253200 |
| Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic... |
ORPHA:67044 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Macrocytic anemia, Renal insufficiency, Hyperammonemia, Anemia, Leukopenia, Thrombocytopenia |
ORPHA:27 |
| Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Sandal gap, Aggressive behavior, Recurrent hand flapping, Self-mutilation |
OMIM:615516 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Methylmalonic acidemia, Hypomethioninemia, Inguinal hernia, Methylmalonic aciduria, Hyperhomocyst... |
OMIM:614857 |
| Ivic Syndrome |
|
Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Absent thumb, Short thumb,... |
OMIM:147750 |
| Myhre Syndrome |
|
Vertebral fusion, Overlapping toe, Short neck, Joint stiffness, Short toe, Limitation of joint mo... |
OMIM:139210 |
| Myh9-Related Disease |
|
Renal insufficiency, Proteinuria, Increased mean platelet volume, Giant platelets, Neutrophil inc... |
ORPHA:182050 |
| Microcephaly-Micromelia Syndrome |
|
Craniosynostosis, Missing ribs, Short neck, Absent thumb, Absent radius, Humeroradial synostosis,... |
OMIM:251230 |
| Elsahy-Waters Syndrome |
|
Pectus excavatum, Shortening of all phalanges of fingers, Cutaneous finger syndactyly, Cervical C... |
OMIM:211380 |
| Waardenburg Syndrome, Type 1 |
|
Spina bifida, Myelomeningocele, Supernumerary ribs, Supernumerary vertebrae, Sprengel anomaly |
OMIM:193500 |
| Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
| Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hyperactivity, Polyuria, Renal magnesium wasting, Self-biting, Nephrocalcinosis, Hypokalemia, Hyp... |
OMIM:618314 |
| Sclerosteosis 1 |
|
Syndactyly, Sclerotic scapulae, Broad clavicles, 2-3 finger syndactyly, Facial palsy secondary to... |
OMIM:269500 |
| Autosomal Dominant Popliteal Pterygium Syndrome |
|
Finger syndactyly, Toe syndactyly, Joint stiffness, Split hand, Abnormal rib morphology, Poplitea... |
ORPHA:1300 |
| Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:97330 |
| Noonan Syndrome 12 |
|
Lymphopenia, Thrombocytopenia, Proximal placement of thumb |
OMIM:618624 |
| Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia |
OMIM:617441 |
| Trisomy 13 |
|
Kyphosis, Postaxial hand polydactyly, Abnormal rib morphology, Abnormal pelvic girdle bone morpho... |
ORPHA:3378 |
| Overlap Myositis |
|
Subluxation of the small joints of the hand, Elevated circulating creatine kinase concentration, ... |
ORPHA:206572 |
| Immunodeficiency 46 |
|
Neutropenia, Anemia, Intermittent thrombocytopenia |
OMIM:616740 |
| Moyamoya Disease 6 With Or Without Achalasia |
|
Thrombocytopenia, Dysphagia |
OMIM:615750 |
| Relapsing Fever |
|
Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Elevated circu... |
ORPHA:91547 |
| Schwartz-Jampel Syndrome |
|
Short neck, Coxa vara, Pectus carinatum, Wrist flexion contracture, Death in infancy, Abnormally ... |
ORPHA:800 |
| Stuve-Wiedemann Syndrome 1 |
|
Enlarged joints, Short neck, Femoral bowing, Tibial bowing, Knee flexion contracture, Short tibia... |
OMIM:601559 |
| Acrorenal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Hypoplastic scapulae, Toe syndactyly, Kyphoscoliosis, Missing ribs, Split... |
OMIM:200980 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... |
OMIM:267700 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Anorexia, Thrombocytopenia, Megaloblastic anemia |
ORPHA:49827 |
| Kenny-Caffey Syndrome, Type 1 |
|
Long clavicles, Delayed closure of the anterior fontanelle, Thin clavicles, Delayed skeletal matu... |
OMIM:244460 |
| Craniosynostosis, Herrmann-Opitz Type |
|
Finger syndactyly, Craniosynostosis, Split hand, Abnormal rib morphology, Brachydactyly |
ORPHA:2145 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Osteopenia, Arachnodactyly, Joint hypermobility, Pectus excavatum, Delayed skeletal maturation, T... |
ORPHA:2463 |
| Immunodeficiency 97 With Autoinflammation |
|
Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T... |
OMIM:619802 |
| Wolfram Syndrome 1 |
|
Sideroblastic anemia, Neurogenic bladder, Hydroureter, Megaloblastic anemia, Limited mobility of ... |
OMIM:222300 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Anemia, Hematuria, Increased mean corpuscular... |
OMIM:617021 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Syndactyly, Thoracic hypoplasia, Postaxial polydactyly, Hypoplastic ilia, Lateral clavicle hook, ... |
OMIM:617895 |
| Vacterl/Vater Association |
|
Occipital encephalocele, Finger syndactyly, Abnormal intervertebral disk morphology, Preaxial han... |
ORPHA:887 |
| Bleeding Disorder, Platelet-Type, 21 |
|
Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Incre... |
OMIM:617443 |
| Primary Myelofibrosis |
|
Pancytopenia, Extramedullary hematopoiesis, Anorexia, Thrombocytopenia, Leukocytosis, Splenomegal... |
ORPHA:824 |
| Beta-Thalassemia |
|
Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Anemia, Abnormality of iron homeostasis, Th... |
ORPHA:848 |
| Renpenning Syndrome |
|
Joint stiffness, Pectus excavatum, Abnormal thumb morphology, Abnormal rib morphology, Clinodacty... |
ORPHA:3242 |
| Occipital Horn Syndrome |
|
Joint laxity, Short humerus, Persistent open anterior fontanelle, Pelvic bone exostoses, Broad cl... |
OMIM:304150 |
| Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Acute myeloid leukemia, Acute monocytic leukemia, Impaired platelet aggregation, Abnormal dense g... |
OMIM:601399 |
| Macrophage Activation Syndrome |
|
Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Splenomegaly, Increa... |
ORPHA:158061 |
| Mandibuloacral Dysplasia |
|
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut... |
ORPHA:2457 |
| Immunodeficiency 91 And Hyperinflammation |
|
Renal insufficiency, Neutrophilia, Membranoproliferative glomerulonephritis, Elevated circulating... |
OMIM:619644 |
| Isovaleric Acidemia |
|
Leukopenia, Pancytopenia, Hyperglycinuria, Thrombocytopenia |
OMIM:243500 |
| Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Osteopenia, Joint laxity, Genu recurvatum, Arachnodactyly, Craniosynostosis, Lateral clavicle hoo... |
OMIM:182212 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Aplasia/Hypoplasia involving the pelvis, Abnormally ossified vertebrae, Abnormal rib morphology, ... |
ORPHA:3301 |
| Humerofemoral Hypoplasia With Radiotibial Ray Deficiency |
|
Hypoplastic scapulae, Bowed humerus, Congenital diaphragmatic hernia, Absent thumb, Elbow flexion... |
OMIM:618022 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Hypertriglyceridemia, Lipodystrophy, Splenomegaly, Flexion contracture, Anemia, Finger swelling, ... |
OMIM:617591 |
| Myotubular Myopathy With Abnormal Genital Development |
|
Neonatal death, Death in infancy, Joint hypermobility, Thin ribs |
OMIM:300219 |
| Refractory Anemia With Excess Blasts |
|
Acute myeloid leukemia, Abnormal circulating protein concentration, Anemia of inadequate producti... |
ORPHA:86839 |
| 3Q29 Microdeletion Syndrome |
|
Tapered finger, Pectus excavatum, Pectus carinatum, Joint hyperflexibility, Six lumbar vertebrae,... |
ORPHA:65286 |
| Generalized Arterial Calcification Of Infancy |
|
Abnormality of the knee, Osteomalacia, Stippled calcification of the shoulder, Abnormal calcifica... |
ORPHA:51608 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Proteinuria, Acetabular dysplasia, Splenomegaly, Metaphyseal widening, Flexion contracture, Clubb... |
OMIM:617303 |
| Kagami-Ogata Syndrome |
|
Long clavicles, Kyphoscoliosis, Coxa valga, Long fingers, Flexion contracture, Thin ribs, Bell-sh... |
OMIM:608149 |
| Scarf Syndrome |
|
Craniosynostosis, Short neck, Abnormal form of the vertebral bodies, Pectus carinatum, Short ster... |
ORPHA:3134 |
| Craniorachischisis |
|
Cervical spina bifida, Myelomeningocele, Anencephaly, Spinal dysraphism, Sirenomelia, Bifid sternum |
ORPHA:63260 |
| Intermediate Osteopetrosis |
|
Hepatosplenomegaly, Anemia, Hypocalcemia, Erlenmeyer flask deformity of the femurs, Thrombocytopenia |
ORPHA:210110 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Pancytopenia, Elevated circulating creatine kinase concentration, Unilateral renal agenesis, Post... |
OMIM:614576 |
| Thyrocerebroretinal Syndrome |
|
Nephritis, Thrombocytopenia |
OMIM:274240 |
| Aicardi-Goutieres Syndrome 4 |
|
Splenomegaly, Pancytopenia, Thrombocytopenia, Hepatosplenomegaly |
OMIM:610333 |
| Lethal Congenital Contracture Syndrome 10 |
|
Thoracic scoliosis, Overlapping fingers, Stiff neck, Short neck, Femoral bowing, Short long bone,... |
OMIM:617022 |
| Autosomal Recessive Multiple Pterygium Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Multiple pterygia, Pectus excavatum, Limitation of jo... |
ORPHA:2990 |
| Combined Oxidative Phosphorylation Deficiency 55 |
|
Stage 3 chronic kidney disease, Elevated circulating creatine kinase concentration, Hypophosphate... |
OMIM:619743 |
| Systemic Lupus Erythematosus |
|
Hemolytic anemia, Lupus nephritis, Leukopenia, Nephritis, Thrombocytopenia |
OMIM:152700 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Flexion contracture, Femoral bowing, Narrow chest, Abnormality of the wrist, Abnormal vertebral m... |
ORPHA:95699 |
| Non-Involuting Congenital Hemangioma |
|
Thrombocytopenia |
ORPHA:141179 |
| Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Finger syndactyly, Prominent metopic ridge, Arachnodactyly, Camptodactyly of finger, Tapered fing... |
ORPHA:2215 |
| Antley-Bixler Syndrome |
|
Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Recurrent fractures, Joint stiffness, ... |
ORPHA:83 |
| Rhabdoid Tumor |
|
Hematuria, Thrombocytopenia, Hypercalcemia, Anemia |
ORPHA:69077 |
| Congenital Myopathy 22B, Severe Fetal |
|
Hip contracture, Thoracic scoliosis, Scapular winging, Tapered toe, Shoulder flexion contracture,... |
OMIM:620369 |
| Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Syndactyly, Ketonuria, Anemia, Aminoaciduria, Neutropenia, Umbilical hernia, Thrombocytopenia |
OMIM:614520 |
| Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Hemolytic anemia, Lymphopenia, Thrombocytopenia |
OMIM:616744 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Craniosynostosis, Rib fusion, Hand polydactyly, Scoliosis, Abnormal vertebral morphology |
ORPHA:261197 |
| Duane Retraction Syndrome |
|
Aplasia/Hypoplasia of the thumb, Short neck, Absent radius, Preaxial hand polydactyly, Hypoplasia... |
ORPHA:233 |
| Aicardi-Goutieres Syndrome 5 |
|
Flexion contracture, Thrombocytopenia |
OMIM:612952 |
| Camptodactyly Syndrome, Guadalajara Type 3 |
|
Osteopenia, Short neck, Delayed skeletal maturation, Abnormal rib morphology, Small hand, Short f... |
ORPHA:488434 |
| Holocarboxylase Synthetase Deficiency |
|
Hyperammonemia, Organic aciduria, Thrombocytopenia, Anorexia |
ORPHA:79242 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Methylmalonic acidemia, Stage 5 chronic kidney disease, Hyperammonemia, Methylmalonic aciduria, L... |
OMIM:251000 |
| Lethal Congenital Contracture Syndrome 5 |
|
Death in infancy, Congenital contracture, Flexion contracture, Thin ribs |
OMIM:615368 |
| Braddock-Carey Syndrome 1 |
|
Multicystic kidney dysplasia, Clinodactyly, Small hand, Camptodactyly, Enamel hypoplasia, Thrombo... |
OMIM:619980 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegaly, Increased p... |
OMIM:603909 |
| Braddock-Carey Syndrome 2 |
|
Clinodactyly, Thrombocytopenia |
OMIM:619981 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Reticulocytosis, Proteinuria, Hemolytic-uremic syndrome, Schistocytosis, Elevated circulating cre... |
OMIM:274150 |
| Scarf Syndrome |
|
Barrel-shaped chest, Short neck, Abnormal form of the vertebral bodies, Pectus carinatum, Short s... |
OMIM:312830 |
| Brachydactyly, Type E1 |
|
Short metacarpal, Short metatarsal, Short clavicles, Type E brachydactyly, Brachydactyly |
OMIM:113300 |
| Cerebrocostomandibular Syndrome |
|
Death in infancy, Spina bifida, Tracheomalacia, Kyphosis, Myelomeningocele, Meningocele, Posterio... |
ORPHA:1393 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Short neck, Hemivertebrae, Pectus carinatum, Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasi... |
OMIM:276820 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Reticulocytosis, Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Schistocytosis, Elevated circ... |
OMIM:235400 |
| 21Q22.11Q22.12 Microdeletion Syndrome |
|
Short proximal phalanx of the 5th finger, Hyperactivity, Short proximal phalanx of the 2nd finger... |
ORPHA:261323 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Overlapping fingers, Hypospadias, Elevated circulating creatine kinase concentration, Rocker bott... |
OMIM:301056 |
| Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Macrocytic anemia, Pancytopenia, Proteinuria, Megaloblastic anemia, Anisopoikilo... |
ORPHA:35858 |
| Bone Marrow Failure Syndrome 4 |
|
Leukopenia, Thrombocytopenia, Anemia |
OMIM:618116 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Renal insufficiency, Hypospadias, Broad femoral neck, Hemolytic-uremic syndrome, Giant platelets,... |
OMIM:611209 |
| Wolf-Hirschhorn Syndrome |
|
Rib segmentation abnormalities, Vertebral fusion, Sacral dimple, Pseudoepiphyses of the metacarpa... |
OMIM:194190 |
| Propionic Acidemia |
|
Pancytopenia, Increased level of hippuric acid in urine, Hyperglycinuria, Hyperammonemia, Anemia,... |
OMIM:606054 |
| Weill-Marchesani Syndrome 1 |
|
Thin bony cortex, Lumbar hyperlordosis, Joint stiffness, Spinal canal stenosis, Scoliosis, Broad ... |
OMIM:277600 |
| Gamma-Heavy Chain Disease |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocytopenia, Dysphag... |
ORPHA:100026 |
| Osteogenesis Imperfecta |
|
Osteopenia, Cervical kyphosis, Abnormal tibia morphology, Osteoarthritis, Flexion contracture, Ab... |
ORPHA:666 |
| Hermansky-Pudlak Syndrome 9 |
|
Leukopenia, Abnormal platelet aggregation, Thrombocytopenia |
OMIM:614171 |
| Aggressive Systemic Mastocytosis |
|
Pancytopenia, Anorexia, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplenomegaly, Increa... |
ORPHA:98850 |
| Van Den Ende-Gupta Syndrome |
|
Glenoid fossa hypoplasia, Lateral clavicle hook, 2-3 toe cutaneous syndactyly, Femoral bowing, Kn... |
OMIM:600920 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Lateral clavicle hook, Preaxial hand polydactyly, Postaxial hand polydactyly, Pectus carinatum, D... |
OMIM:263520 |
| Congenital Toxoplasmosis |
|
Thrombocytopenia, Anemia |
ORPHA:858 |
| Congenital Rubella Syndrome |
|
Splenomegaly, Thrombocytopenia, Abnormal metaphysis morphology, Anemia |
ORPHA:290 |
| Monosomy 9Q22.3 |
|
Short neck, Pectus excavatum, Kyphosis, Accelerated skeletal maturation, Abnormal rib morphology,... |
ORPHA:77301 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Elevated circulating creatinine concentration, Anemia, Hypoalbuminemia, Camptodactyly, Thrombocyt... |
OMIM:608104 |
| Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Increased circulating ferritin concentration, Thrombocytopenia, Hepatosplenomegaly |
ORPHA:210136 |
| Robinow Syndrome |
|
Fused thoracic vertebrae, Syndactyly, Brachydactyly, Kyphoscoliosis, Missing ribs, Bifid distal p... |
ORPHA:97360 |
| Methylmalonic Aciduria, Cblb Type |
|
Methylmalonic acidemia, Pancytopenia, Ketonuria, Hyperammonemia, Methylmalonic aciduria, Anemia, ... |
OMIM:251110 |
| Gaucher Disease, Type Iii |
|
Splenomegaly, Pancytopenia, Thrombocytopenia |
OMIM:231000 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Pancytopenia, Extramedullary hematopoiesis, Diaphyseal sclerosis, Hepatosplenomegaly, Anemia, Gen... |
OMIM:259710 |
| Cleidocranial Dysplasia 2 |
|
Down-sloping shoulders, Aplastic clavicle, Coxa valga, Genu valgum, Delayed ossification of carpa... |
OMIM:620099 |
| Nestor-Guillermo Progeria Syndrome |
|
Wide cranial sutures, Limited elbow movement, Delayed closure of the anterior fontanelle, Joint s... |
OMIM:614008 |
| Snakebite Envenomation |
|
Hyponatremia, Neuromuscular dysphagia, Pseudobulbar paralysis, Acute kidney injury, Thrombocytopenia |
ORPHA:449285 |
| Schimke Immuno-Osseous Dysplasia |
|
Wide capital femoral epiphyses, Proteinuria, Microscopic hematuria, Minimal change glomerulonephr... |
ORPHA:1830 |
| Stormorken Syndrome |
|
Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Asplenia, Anemia, Hematu... |
OMIM:185070 |
| Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Ectopic kidney, Absent thumb, Short thumb, Absent radius, Reticulocytopenia, Horses... |
OMIM:600901 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin co... |
OMIM:603553 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Pancytopenia, Femur fracture, Splenomegaly, Flared metaphysis, Coxa vara, Anemia, Hypocalcemia, T... |
OMIM:259700 |
| Fetal Gaucher Disease |
|
Pancytopenia, Splenomegaly, Abnormality of the spleen, Flexion contracture, Arthrogryposis multip... |
ORPHA:85212 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Conjugated hyperbilirubinemia, Nephrocalcinosis, Renal tubular acidosis, Aminoaciduria, Hip dyspl... |
OMIM:208085 |
| Femoral-Facial Syndrome |
|
Short third metatarsal, Short humerus, Short fourth metatarsal, Toe syndactyly, Short fifth metat... |
OMIM:134780 |
| Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Metaphyseal dysplasia, Pancytopenia, Hyperactivity, Aplastic anemia, Cong... |
OMIM:617052 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Sideroblastic anemia, Aminoaciduria, Thiamine-responsive megaloblastic anemia, Thrombocytopenia |
OMIM:249270 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Postaxial polydactyly, Short neck, Lateral clavicle hook, Preaxial polydactyly, Hypoplastic pubic... |
OMIM:617925 |
| Campomelic Dysplasia |
|
Thoracic scoliosis, Cervical kyphosis, Anterior tibial bowing, Delayed epiphyseal ossification, P... |
OMIM:114290 |
| Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis |
OMIM:300367 |
| Pseudo-Torch Syndrome 3 |
|
Proteinuria, Increased circulating ferritin concentration, Leukocytosis, Acute kidney injury, Con... |
OMIM:618886 |
| Alg8-Cdg |
|
Hyponatremia, Abnormality of subcutaneous fat tissue, Anemia, Camptodactyly, Thrombocytopenia, Br... |
ORPHA:79325 |
| Short-Rib Thoracic Dysplasia 12 |
|
Hypoplastic scapulae, Short neck, Bowing of the legs, Short toe, Short thorax, Anencephaly, Short... |
OMIM:269860 |
| Spastic Paraplegia 29, Autosomal Dominant |
|
Hyperactivity, Urinary incontinence, Hiatus hernia, Urinary hesitancy, Urinary urgency, Neonatal ... |
OMIM:609727 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Acroosteolysi... |
OMIM:608612 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Joint laxity, Hyperextensibility of the finger joints, Syndactyly, Broad clavicles, Aplasia/Hypop... |
OMIM:151050 |
| Platelet Disorder, Undefined |
|
Impaired platelet aggregation, Thrombocytopenia |
OMIM:173420 |
| Cog1-Cdg |
|
Osteopenia, Irregularity of vertebral bodies, Kyphoscoliosis, Short neck, Coxa valga, Rib fusion,... |
ORPHA:263508 |
| Bleeding Disorder, Platelet-Type, 17 |
|
Increased RBC distribution width, Macrothrombocytopenia, Absence of alpha granules, Impaired coll... |
OMIM:187900 |
| Idiopathic Aplastic Anemia |
|
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Thrombocytopenia |
ORPHA:88 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, B lymphocytopenia, Neutropenia |
OMIM:150550 |
| Eiken Syndrome |
|
Broad femoral neck, Delayed epiphyseal ossification, Long thumb, Flat acetabular roof, Fibular hy... |
OMIM:600002 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Splenomegaly, Thrombocytopenia, Anemia |
OMIM:615085 |
| Stt3B-Cdg |
|
Micropenis, Thrombocytopenia |
ORPHA:370924 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Hyperactivity, Hypouricemia, Autoimmune thrombocytopenia, Abnormal T... |
ORPHA:760 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Splenomegaly, Reticulocytosis, Anemia, Thrombocytopenia |
OMIM:611490 |
| Maternal Uniparental Disomy Of Chromosome 6 |
|
Slender long bone, Inguinal hernia, Thrombocytopenia |
ORPHA:96181 |
| Acute Promyelocytic Leukemia |
|
Pancytopenia, Anorexia, Leukocytosis, Anemia, Leukopenia, Hematuria, Addictive alcohol use, Neutr... |
ORPHA:520 |
| Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Increased mean platelet volume, Thrombocytopenia, Splenomegaly, Impaired ADP-in... |
OMIM:153670 |
| Fanconi Anemia, Complementation Group A |
|
Pancytopenia, Ectopic kidney, Absent thumb, Short thumb, Absent radius, Reticulocytopenia, Horses... |
OMIM:227650 |
| Sengers Syndrome |
|
3-Methylglutaconic aciduria, Thrombocytopenia |
OMIM:212350 |
| Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Renal insufficiency, Proteinuria, Nephrotic syndrome, Normochromic anemia, Focal segmental glomer... |
OMIM:254900 |
| Diamond-Blackfan Anemia 21 |
|
Hallux valgus, Sandal gap, Tapered finger, Erythroid hypoplasia, Short toe, Preaxial hand polydac... |
OMIM:620072 |
| Kagami-Ogata Syndrome |
|
Kyphoscoliosis, Short neck, Coxa valga, Large placenta, Limitation of joint mobility, Bell-shaped... |
ORPHA:254519 |
| Immunodeficiency 10 |
|
Autoimmune hemolytic anemia, Thrombocytopenia, Amelogenesis imperfecta |
OMIM:612783 |
| Gracile Bone Dysplasia |
|
Death in infancy, Flared metaphysis, Thin ribs, Slender long bone, Decreased skull ossification, ... |
OMIM:602361 |
| Autosomal Recessive Robinow Syndrome |
|
Short neck, Pectus carinatum, Vertebral segmentation defect, Clinodactyly of the 5th finger, Syno... |
ORPHA:1507 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Death in infancy, Lateral clavicle hook, Early ossification of capital fe... |
OMIM:208500 |
| Omenn Syndrome |
|
Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia of the thymus,... |
OMIM:603554 |
| Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism |
|
Lipodystrophy, Recurrent shoulder dislocation, Down-sloping shoulders, Short clavicles, Finger jo... |
OMIM:212112 |
| Congenital Disorder Of Glycosylation, Type Ix |
|
Micropenis, Thrombocytopenia |
OMIM:615597 |
| Mirage Syndrome |
|
Hyponatremia, Hypospadias, Rocker bottom foot, Radial club hand, Hyperkalemia, Anemia, Leukopenia... |
OMIM:617053 |
| Myhre Syndrome |
|
Craniofacial hyperostosis, Brachydactyly, Joint stiffness, Abnormal rib morphology, Platyspondyly... |
ORPHA:2588 |
| Fanconi Anemia, Complementation Group F |
|
Absent thumb, Short thumb, Hypoplasia of the radius, 2-3 finger syndactyly, Renal hypoplasia, Ane... |
OMIM:603467 |
| Schimke Immunoosseous Dysplasia |
|
Pancytopenia, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Hypoplasia of the... |
OMIM:242900 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eosinophilia, Glomerulonephritis, Autoimmune thrombocytopenia, Anemia, Coombs-positive hemolytic ... |
OMIM:304790 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Short neck, Flexion contracture, Hemivertebrae, Tibial bowing, Narrow chest, Hypoplastic iliac wi... |
ORPHA:96334 |
| Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Thrombocytopenia, Hydronephrosis, Increased mean platelet volume |
OMIM:300048 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Short neck, Short metatarsal, Patellar hypo... |
OMIM:609945 |
| Orofaciodigital Syndrome Type 3 |
|
Pectus excavatum, Postaxial hand polydactyly, Postaxial foot polydactyly, Short sternum, Thoracic... |
ORPHA:2752 |
| Aspergillosis |
|
Abnormal long bone morphology, Abnormality of the vertebral column, Abnormal rib morphology, Oste... |
ORPHA:1163 |
| Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Ectopic kidney, Absent thumb, Short thumb, Preaxial hand polydactyly, Absent radius... |
OMIM:227646 |
| Methylmalonic Aciduria, Cbla Type |
|
Methylmalonic acidemia, Pancytopenia, Ketonuria, Elevated urine 3-hydroxypropionic acid level, Hy... |
OMIM:251100 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia |
OMIM:613839 |
| Fanconi Anemia, Complementation Group C |
|
Pancytopenia, Ectopic kidney, Absent thumb, Short thumb, Absent radius, Flexion contracture, Reti... |
OMIM:227645 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Short humerus, Short metacarpal, Thrombocytopenia, Reticulocytopenia, Leukopenia, Panniculitis, B... |
ORPHA:508542 |
| Pelvis-Shoulder Dysplasia |
|
Congenital hip dislocation, Hypoplastic scapulae, Hypoplastic ilia, Hypoplastic acetabulae, Short... |
OMIM:169550 |
| Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Methylmalonic acidemia, Pancytopenia, Megaloblastic anemia, Cystathioninuria, Methylmalonic acidu... |
OMIM:277380 |
| Hereditary Folate Malabsorption |
|
Pancytopenia, Eosinophilia, Anorexia, Megaloblastic anemia, Thrombocytopenia |
ORPHA:90045 |
| X-Linked Agammaglobulinemia |
|
Neutropenia, Anemia, Hypocalcemia, Cellulitis, Thrombocytopenia |
ORPHA:47 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Anemia, Hypoalb... |
ORPHA:540 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Encephalocele, Postaxial polydactyly, Unicoronal synostosis, Squared iliac bones, Preaxial polyda... |
OMIM:616300 |
| Ellis-Van Creveld Syndrome |
|
Capitate-hamate fusion, Postaxial hand polydactyly, Pectus carinatum, Postaxial foot polydactyly,... |
OMIM:225500 |
| Kaposiform Lymphangiomatosis |
|
Abnormal ischium morphology, Abnormal pelvis bone morphology, Abnormal humerus morphology, Spleno... |
ORPHA:464329 |
| Congenital Enterovirus Infection |
|
Abnormal macrophage morphology, Leukocytosis, Hyperammonemia, Anemia, Leukopenia, Hypoalbuminemia... |
ORPHA:292 |
| Gray Platelet Syndrome |
|
Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Splenomegaly, ... |
OMIM:139090 |
| Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Postaxial hand polydactyly, Abnormal rib morphology, Abnormal sternum morphology, Short ribs, Bro... |
ORPHA:2519 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Calcinosis, Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Li... |
OMIM:248370 |
| Avian Influenza |
|
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... |
ORPHA:454836 |
| Hepatoportal Sclerosis |
|
Hypersplenism, Splenomegaly, Anemia, Leukopenia, Hypoalbuminemia, Hyperbilirubinemia, Thrombocyto... |
ORPHA:64743 |
| Weill-Marchesani Syndrome 2 |
|
Short metacarpal, Lumbar hyperlordosis, Thin bony cortex, Joint stiffness, Delayed skeletal matur... |
OMIM:608328 |
| Pallister-Hall Syndrome |
|
Syndactyly, Mesoaxial foot polydactyly, Toe syndactyly, Mesoaxial hand polydactyly, Postaxial han... |
OMIM:146510 |
| Diffuse Alveolar Hemorrhage |
|
Proteinuria, Leukocytosis, Elevated circulating creatinine concentration, Anemia, Hematuria, Thro... |
ORPHA:90060 |
| Cog4-Cdg |
|
Hypercholesterolemia, Thrombocytopenia, Hepatosplenomegaly |
ORPHA:263501 |
| Craniotubular Dysplasia, Ikegawa Type |
|
Metaphyseal dysplasia, Thin bony cortex, Increased intervertebral space, Broad ischia, Diaphyseal... |
OMIM:619727 |
| Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Autoimmune hemolytic anemia, Thrombocytopenia |
OMIM:616576 |
| Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Severe temper tantrums, Thrombocytopenia, Aggressive behavior |
OMIM:617710 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, A... |
ORPHA:158048 |
| Shwachman-Diamond Syndrome |
|
Normocytic anemia, Transient neutropenia, Aplastic anemia, Metaphyseal chondrodysplasia, Metaphys... |
ORPHA:811 |
| Cholesteryl Ester Storage Disease |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow foam cells, Hypersplen... |
OMIM:278000 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Myeloproliferative disorde... |
ORPHA:3226 |
| Cerebrocostomandibular Syndrome |
|
Rib gap, 10 pairs of ribs, 11 pairs of ribs, Congenital hip dislocation, Anomalous rib insertion ... |
OMIM:117650 |
| Lysinuric Protein Intolerance |
|
Decreased HDL cholesterol concentration, Leukopenia, Tubulointerstitial nephritis, Renal fibrosis... |
ORPHA:470 |
| Acyl-Coa Dehydrogenase 9 Deficiency |
|
Dicarboxylic aciduria, Elevated circulating acylcarnitine concentration, Hyperammonemia, Decrease... |
ORPHA:99901 |
| Neuroleptic Malignant Syndrome |
|
Hyponatremia, Proteinuria, Elevated circulating creatine kinase concentration, Urinary incontinen... |
ORPHA:94093 |
| Quebec Platelet Disorder |
|
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation |
OMIM:601709 |
| Intellectual Developmental Disorder With Short Stature, Facial Anomalies, And Speech Defects |
|
Short 4th metacarpal, Short clavicles, Aggressive behavior |
OMIM:606220 |
| Cornelia De Lange Syndrome 1 |
|
Congenital diaphragmatic hernia, Ectopic kidney, Proximal placement of thumb, Renal cyst, Vesicou... |
OMIM:122470 |
| Oculocerebrocutaneous Syndrome |
|
Finger syndactyly, Congenital hip dislocation, Aplasia/Hypoplasia of the distal phalanges of the ... |
ORPHA:1647 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Inguinal hernia, Intermittent thrombocytopenia, Erythroid hypoplasia, Thrombocytopenia, Splenomeg... |
OMIM:612541 |
| Hyperparathyroidism, Transient Neonatal |
|
Osteopenia, Wide cranial sutures, Short femur, Metaphyseal spurs, Recurrent fractures, Undulate r... |
OMIM:618188 |
| Smith-Kingsmore Syndrome |
|
Short proximal phalanx of finger, Umbilical hernia, Thrombocytopenia, Short distal phalanx of finger |
OMIM:616638 |
| Griscelli Syndrome |
|
Abnormality of neutrophils, Splenomegaly, Leukopenia, Abnormal circulating lipid concentration, T... |
ORPHA:381 |
| Roberts Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Progressive flexion contractur... |
ORPHA:3103 |
| Sea-Blue Histiocytosis |
|
Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis |
ORPHA:158029 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Leukopenia, Hemoglobinuria, Renal Fanconi syndrome, Erythroid hyperplasia, Hemolytic anemia, Reti... |
ORPHA:447 |
| Tufted Angioma |
|
Anemia, Thrombocytopenia |
ORPHA:1063 |
| Neonatal Lupus Erythematosus |
|
Hemolytic anemia, Pancytopenia, Aplastic anemia, Splenomegaly, Anemia, Neutropenia, Thrombocytopenia |
ORPHA:398124 |
| Dengue Fever |
|
Leukopenia, Hypoproteinemia, Thrombocytopenia |
ORPHA:99828 |
| Desbuquois Dysplasia 2 |
|
Epiphyseal dysplasia, Short metacarpal, Monkey wrench femoral neck, Coxa valga, Metaphyseal widen... |
OMIM:615777 |
| Vater/Vacterl Association |
|
Occipital encephalocele, Syndactyly, Spina bifida, Absent radius, Short thumb, Hypoplasia of the ... |
OMIM:192350 |
| Acquired Purpura Fulminans |
|
Elevated circulating C-reactive protein concentration, Thrombocytopenia |
ORPHA:49566 |
| Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Joint dislocation, Osteopenia, Joint laxity, Congenital hip dislocation, Arachnodactyly, Protrusi... |
OMIM:225400 |
| Fetal Akinesia Deformation Sequence 1 |
|
Hip contracture, Rocker bottom foot, Camptodactyly of finger, Short neck, Elbow contracture, Thin... |
OMIM:208150 |
| Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Decreased proportion of CD4-p... |
ORPHA:101096 |
| Gaucher Disease, Type I |
|
Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Erlenmeyer flask deformity of the femurs, Thro... |
OMIM:230800 |
| Alg12-Cdg |
|
Hyponatremia, Hypospadias, Sandal gap, Proximal placement of thumb, Long fingers, Short long bone... |
ORPHA:79324 |
| Mevalonic Aciduria |
|
Normocytic hypoplastic anemia, Elevated circulating creatine kinase concentration, Elevated circu... |
OMIM:610377 |
| Wilson Disease |
|
Aggressive behavior, Splenomegaly, Hypersexuality, Anemia, Thrombocytopenia |
ORPHA:905 |
| Immune Thrombocytopenia |
|
Thrombocytopenia |
ORPHA:3002 |
| Takenouchi-Kosaki Syndrome |
|
Inguinal hernia, Hypospadias, Overlapping toe, Unilateral renal agenesis, Increased mean platelet... |
OMIM:616737 |
| Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Urethral stricture, Pancytopenia, Aplastic anemia, Avascular necrosis of the capital femoral epip... |
OMIM:613990 |
| Pediatric-Onset Graves Disease |
|
Hyperactivity, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Polydipsia, Po... |
ORPHA:525731 |
| Tularemia |
|
Thrombocytopenia, Leukocytosis, Anemia |
ORPHA:3392 |
| Pearson Marrow-Pancreas Syndrome |
|
Sideroblastic anemia, Pancytopenia, Anorexia, Thrombocytopenia, Reticulocytopenia, Hypercalciuria... |
OMIM:557000 |
| Coffin-Lowry Syndrome |
|
Hyperextensibility of the finger joints, Short metacarpal, Delayed closure of the anterior fontan... |
OMIM:303600 |
| Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Aplasia of the distal phalanx of the 2nd finger, 2-5 finger syndactyly, Syndactyly, Congenital hi... |
OMIM:308050 |
| Gaucher Disease Type 1 |
|
Pancytopenia, Proteinuria, Anorexia, Hypersplenism, Splenomegaly, Anemia, Leukopenia, Hematuria, ... |
ORPHA:77259 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Methylmalonic acidemia, Hypomethioninemia, Renal insufficiency, Proteinuria, Megaloblastic anemia... |
OMIM:277400 |
| Bacterial Toxic-Shock Syndrome |
|
Renal insufficiency, Fasciitis, Elevated circulating creatine kinase concentration, Glomeruloneph... |
ORPHA:36234 |
| Adams-Oliver Syndrome |
|
Finger syndactyly, Brachydactyly, Absent toe, Split hand, Absent hand, Leukopenia, Abnormal metac... |
ORPHA:974 |
| Wilson Disease |
|
Hemolytic anemia, Hyperphosphaturia, Decreased circulating ceruloplasmin concentration, Hypourice... |
OMIM:277900 |
| Lig4 Syndrome |
|
Pancytopenia, Acute lymphoblastic leukemia, Clinodactyly of the 5th finger, Micropenis, Thrombocy... |
OMIM:606593 |
| Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities |
|
Thrombocytopenia |
OMIM:616577 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Hemophagocytosis, Neutropenia, Agra... |
OMIM:301078 |
| Felty Syndrome |
|
Splenomegaly, Cellulitis, Anemia, Neutropenia, Abnormal lymphocyte morphology, Thrombocytopenia |
ORPHA:47612 |
| Histidinemia |
|
Histidinuria, Hyperactivity, Hyperhistidinemia |
ORPHA:2157 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Pancytopenia, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Flared metaphysis, Hypoch... |
OMIM:259720 |
| Thrombocytopenia 3 |
|
Thrombocytopenia, Decreased mean platelet volume |
OMIM:273900 |
| Agammaglobulinemia 9, Autosomal Recessive |
|
Thrombocytopenia, Absent circulating B cells |
OMIM:619693 |
| Ulbright-Hodes Syndrome |
|
Short humerus, Short metacarpal, Short neck, Humeroradial synostosis, Abnormal rib morphology, Ov... |
ORPHA:3404 |
| Trisomy 1Q |
|
Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Preaxial hand polydactyly, Short thorax,... |
ORPHA:261344 |
| Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Increased circulating ferritin concentration, Hypochromic microcytic anemia, Thrombocytopenia |
ORPHA:3240 |
| Cyclic Neutropenia |
|
Cyclic neutropenia, Cellulitis, Decreased eosinophil count, Lymphopenia, Thrombocytopenia |
ORPHA:2686 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Hepatosp... |
ORPHA:331206 |
| Parietal Foramina With Cleidocranial Dysplasia |
|
Short clavicles |
OMIM:168550 |
| Bent Bone Dysplasia Syndrome 1 |
|
Bent long bone, Hypoplastic pubic bone, Hepatosplenomegaly, Short clavicles, Brachydactyly |
OMIM:614592 |
| Dubowitz Syndrome |
|
Aplasia/Hypoplasia of the thumb, Toe syndactyly, Hypospadias, Sandal gap, Abnormality of neutroph... |
ORPHA:235 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Pancytopenia, Autoimmune hemolytic anemia, Chronic neutropenia, Autoimmune thrombocytopenia, Sple... |
OMIM:614700 |
| Congenital Erythropoietic Porphyria |
|
Hemolytic anemia, Reticulocytosis, Scarring, Anisocytosis, Increased connective tissue, Splenomeg... |
ORPHA:79277 |
| Boutonneuse Fever |
|
Leukopenia, Renal insufficiency, Thrombocytopenia |
ORPHA:83313 |
| Holocarboxylase Synthetase Deficiency |
|
Hyperammonemia, Organic aciduria, Elevated urinary 3-methylcrotonylglycine level, 3-hydroxyisoval... |
OMIM:253270 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Normochromic anemia, Elevated circulating creatine kinase concentration, Thrombocytopenia |
OMIM:618775 |
| Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Urethral stricture, Pancytopenia, Aplastic anemia, Leukopenia, Neutropenia, Thrombocytopenia |
OMIM:613989 |
| Vexas Syndrome |
|
Macrocytic anemia, Elevated circulating C-reactive protein concentration, Thrombocytopenia |
OMIM:301054 |
| Portal Hypertension, Noncirrhotic, 2 |
|
Splenomegaly, Thrombocytopenia |
OMIM:619463 |
| Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Hypospadias, Pure red cell aplasia, Absent thumb, Erythroid hypoplasia, S... |
ORPHA:124 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Decreased hemoglobin concentration, Increased femoral anteversion, Attention deficit hyperactivit... |
OMIM:619005 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Long toe, Hyperextensibility of the finger joints, Hypospadias, Rocker bottom foot, 2-3 toe synda... |
ORPHA:163979 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... |
ORPHA:98849 |
| 9Q31.1Q31.3 Microdeletion Syndrome |
|
Tapered finger, Small hand, Renovascular hypertension, Short clavicles, Hypercholesterolemia |
ORPHA:401923 |
| Mucopolysaccharidosis Type 3 |
|
Abnormal clavicle morphology, Craniofacial hyperostosis, Joint stiffness, Avascular necrosis of t... |
ORPHA:581 |
| Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Metaphyseal widening, Metaphyseal irregularity, Neutropenia, Thrombocytopenia,... |
OMIM:617941 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Reticulocytosis, Anuria, Leukocytosis, Schistocytosis, Elevated circulating creatin... |
ORPHA:90038 |
| Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Pancytopenia, Thrombocytopenia |
OMIM:613987 |
| Pediatric Systemic Lupus Erythematosus |
|
Dark urine, Renal insufficiency, Proteinuria, Hematuria, Leukopenia, Nephrotic syndrome, Microang... |
ORPHA:93552 |
| Focal Dermal Hypoplasia |
|
Omphalocele, Finger syndactyly, Multicystic kidney dysplasia, Inguinal hernia, Toe syndactyly, Ab... |
ORPHA:2092 |
| Occipital Horn Syndrome |
|
Coxa vara, Humerus varus, Short palm, Large iliac wing, Femoral hernia, Scarring, Aplastic clavic... |
ORPHA:198 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Hyponatremia, Leukocytosis, Thrombocytopenia |
ORPHA:83601 |
| Letterer-Siwe Disease |
|
Thrombocytopenia, Neutropenia, Anemia, Hepatosplenomegaly |
OMIM:246400 |
| Hermansky-Pudlak Syndrome 2 |
|
Absent platelet dense granules, Decreased CD4:CD8 ratio, Splenomegaly, Impaired ADP-induced plate... |
OMIM:608233 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated circulating alpha-fetoprotein concentration, Splenomegaly, Generalized aminoaciduria, Hy... |
OMIM:251880 |
| Lysinuric Protein Intolerance |
|
Hypolysinemia, Splenomegaly, Increased circulating ferritin concentration, Intraalveolar phosphol... |
OMIM:222700 |
| Fanconi Anemia, Complementation Group B |
|
Aplastic anemia, Absent thumb, Bilateral radial aplasia, Micropenis, Thrombocytopenia |
OMIM:300514 |
| Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hemolytic anemia, Splenomegaly, Hypocalcification of dental enamel, Thrombocytopenia, Amelogenesi... |
ORPHA:169090 |
| Monosomy 9P |
|
Proximal placement of thumb, Short neck, Abnormality of the tarsal bones, Postaxial hand polydact... |
ORPHA:261112 |
| Pseudo-Torch Syndrome 1 |
|
Splenomegaly, Renal insufficiency, Umbilical hernia, Thrombocytopenia |
OMIM:251290 |
| Prolidase Deficiency |
|
Splenomegaly, Thrombocytopenia, Anemia, Hyperimidodipeptiduria |
OMIM:170100 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Hypoammonemia, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Compulsive behaviors, Abnorma... |
ORPHA:534 |
| Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Self-injurious behavior, Abnormal repetitive mannerisms, High nonceruloplasmin-bound serum copper... |
ORPHA:457351 |
| Transaldolase Deficiency |
|
Pancytopenia, Splenomegaly, Hepatosplenomegaly, Anemia, Thrombocytopenia |
OMIM:606003 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Hallux valgus, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Lipodystrophy, Camp... |
OMIM:256040 |
| Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Congenital hypoplastic anemia, Absent thumb, Short thumb, Hypoplastic ilia, Pa... |
OMIM:105650 |
| 16Q24.3 Microdeletion Syndrome |
|
Proximal placement of thumb, Hip dysplasia, Increased mean corpuscular volume, Dysphagia, Thrombo... |
ORPHA:261250 |
| Hermansky-Pudlak Syndrome 5 |
|
Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Thrombocytopenia |
OMIM:614074 |
| Shigellosis |
|
Hyponatremia, Anorexia, Hemolytic-uremic syndrome, Leukocytosis, Urethritis, Abnormal blood ion c... |
ORPHA:810 |
| Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Thrombocytopenia, Elbow flex... |
OMIM:612394 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Pancytopenia, Abnormal lymphocyte count, Thrombocytopenia, Abnormal natural killer cell count, He... |
ORPHA:79124 |
| Crane-Heise Syndrome |
|
Finger syndactyly, Hypoplasia of penis, Hypoplastic scapulae, Toe syndactyly, Aplastic clavicle, ... |
ORPHA:1512 |
| Immunodeficiency 22 |
|
Decreased proportion of CD4-positive helper T cells, Thrombocytopenia, Panniculitis, Anemia |
OMIM:615758 |
| Recon Progeroid Syndrome |
|
Arachnodactyly, Proximal placement of thumb, Anemia, Long thumb, Thrombocytopenia |
OMIM:620370 |
| Combined Oxidative Phosphorylation Deficiency 14 |
|
Thrombocytopenia, Aminoaciduria, Anemia, Elevated hepatic iron concentration |
OMIM:614946 |
| Von Willebrand Disease, Type 3 |
|
Impaired platelet aggregation, Thrombocytopenia |
OMIM:277480 |
| Chédiak-Higashi Syndrome |
|
Abnormal leukocyte morphology, Hyponatremia, Pancytopenia, Hypertriglyceridemia, Thrombocytopenia... |
ORPHA:167 |
| Castleman Disease |
|
Renal insufficiency, Elevated circulating C-reactive protein concentration, Anemia, Decreased mea... |
ORPHA:160 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Proteinuria, Heparan sulfate excretion in urine, Flexion contracture, Hepatosplenomegaly, Anemia,... |
ORPHA:505248 |
| Lathosterolosis |
|
Hypoplasia of penis, Toe syndactyly, Postaxial hand polydactyly, Anisopoikilocytosis, Abnormal pl... |
ORPHA:46059 |
| Xylt1-Cdg |
|
Coxa valga, Flared metaphysis, Short long bone, Short femoral neck, Short clavicles, Clinodactyly... |
ORPHA:370930 |
| Sepsis In Premature Infants |
|
Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocytosis, Oliguria, Anem... |
ORPHA:90051 |
| Necrotizing Enterocolitis |
|
Hyponatremia, Leukocytosis, Thrombocytopenia, Neutropenia |
ORPHA:391673 |
| Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Thrombocytopenia, Splenomegaly, Neutropenia, Leukopeni... |
OMIM:214500 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Elevated circulating C-reactive protein concentration, Decreased mean platelet volume, Lymphocyto... |
OMIM:617718 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Thrombocytopenia, Lymphopenia, Anemia |
OMIM:620365 |
| Hurler Syndrome |
|
Inguinal hernia, Hypoplasia of the femoral head, Coxa valga, Heparan sulfate excretion in urine, ... |
OMIM:607014 |
| Lujo Hemorrhagic Fever |
|
Renal insufficiency, Elevated circulating C-reactive protein concentration, Microscopic hematuria... |
ORPHA:319213 |
| Pseudo-Torch Syndrome 2 |
|
Abnormal renal corticomedullary differentiation, Thrombocytopenia |
OMIM:617397 |
| Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Postaxial polydactyly, Postaxial hand polydactyly, Aplasia of the epiglottis, Cone-shaped epiphys... |
OMIM:617088 |
| Ebola Hemorrhagic Fever |
|
Leukopenia, Lymphopenia, Thrombocytopenia, Dysphagia |
ORPHA:319218 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Flexion contracture, Leukopenia, 3-Methylglutaconic aciduria, Neutropenia, Thrombocytopenia |
OMIM:616271 |
| Nijmegen Breakage Syndrome |
|
Autoimmune hemolytic anemia, Hyperactivity, Sandal gap, 2-3 toe syndactyly, T lymphocytopenia, B ... |
OMIM:251260 |
| Zika Virus Disease |
|
Thrombocytopenia |
ORPHA:448237 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Accelerated skeletal maturation, Pectus carinatum, Vertebral segmentation defect, Narrow greater ... |
OMIM:312870 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Severe B lymphocytopenia, Tapered finger, Absence of subcutaneous fat, Small ha... |
OMIM:620005 |
| Aicardi-Goutieres Syndrome 1 |
|
Splenomegaly, Self-mutilation, Thrombocytopenia |
OMIM:225750 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Abnormal morphology of the radius, Multicystic kidney dysplasia, Aplastic clavicle, Hiatus hernia... |
ORPHA:2538 |
| Thrombocytopenia 6 |
|
Thrombocytopenia |
OMIM:616937 |
| Good Syndrome |
|
Abnormal leukocyte morphology, Thrombocytopenia, Anemia, Dysphagia |
ORPHA:169105 |
| Noonan Syndrome 4 |
|
Ureteral duplication, Hydronephrosis, Thrombocytopenia |
OMIM:610733 |
| Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Dicarboxylic aciduria, Thrombocytopenia |
OMIM:611126 |
| Porphyria, Congenital Erythropoietic |
|
Hemolytic anemia, Splenomegaly, Red urine, Corneal scarring, Atypical scarring of skin, Elevated ... |
OMIM:263700 |
| Beemer-Ertbruggen Syndrome |
|
Thrombocytopenia |
ORPHA:1237 |
| Jacobsen Syndrome |
|
Broad hallux phalanx, Inguinal hernia, Multicystic kidney dysplasia, Finger syndactyly, Toe synda... |
ORPHA:2308 |
| Gaucher Disease, Perinatal Lethal |
|
Splenomegaly, Hepatosplenomegaly, Anemia, Dysphagia, Arthrogryposis multiplex congenita, Thromboc... |
OMIM:608013 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Absence of the sacrum, Congenital hip dislocation, Block vertebrae, Myelomeningocele, Short long ... |
OMIM:306955 |
| Restrictive Dermopathy 2 |
|
Overtubulated long bones, Short clavicles |
OMIM:619793 |
| Smith-Lemli-Opitz Syndrome |
|
Finger syndactyly, Proximal placement of thumb, Short neck, Kyphosis, Postaxial hand polydactyly,... |
ORPHA:818 |
| Farber Disease |
|
Short toe, Flexion contracture, Hepatosplenomegaly, Anemia, Short finger, Thrombocytopenia |
ORPHA:333 |
| Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Inguinal hernia, Hypospadias, Overlapping toe, Unilateral renal agenesis, Increased mean platelet... |
ORPHA:487796 |
| Atelis Syndrome 2 |
|
Clinodactyly, Thrombocytopenia, Attention deficit hyperactivity disorder, Anemia |
OMIM:620185 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Bowing of the long bones, Metaphyseal sclerosis, Genu valgum, Anemia, Short femoral neck, Thrombo... |
OMIM:612199 |
| Pearson Syndrome |
|
Reticulocytosis, Pancytopenia, Renal insufficiency, Proteinuria, Splenomegaly, Hypomagnesemia, La... |
ORPHA:699 |
| Toxic Epidermal Necrolysis |
|
Renal insufficiency, Dysuria, Abnormality of the urethra, Dysphagia, Anemia, Neutropenia, Polydip... |
ORPHA:537 |
| Hemorrhagic Fever-Renal Syndrome |
|
Anuria, Proteinuria, Glomerulonephritis, Leukocytosis, Chronic kidney disease, Elevated circulati... |
ORPHA:340 |
| Thrombocytopenia 1 |
|
Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent thrombocytopenia |
OMIM:313900 |
| Acute Radiation Syndrome |
|
Lymphopenia, Granulocytopenia, Thrombocytopenia |
ORPHA:454831 |
| Fgfr2-Related Bent Bone Dysplasia |
|
Extramedullary hematopoiesis, Hypoplastic ischia, Bowing of the legs, Hepatosplenomegaly, Short c... |
ORPHA:313855 |
| Alport Syndrome 1, X-Linked |
|
Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Microscopic... |
OMIM:301050 |
| Hoyeraal-Hreidarsson Syndrome |
|
Abnormal leukocyte morphology, Thrombocytopenia, Anemia |
ORPHA:3322 |
| Marburg Hemorrhagic Fever |
|
Lymphopenia, Reticulocytosis, Renal insufficiency, Elevated circulating creatine kinase concentra... |
ORPHA:99826 |
| Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Dysphagia, Thrombocytopenia, Aggressive behavior |
ORPHA:572798 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Anemia, Leukopenia, Increased mean corpuscular volume, Lymphopenia, Thrombocytop... |
OMIM:127550 |
| Immunodeficiency 40 |
|
T lymphocytopenia, Thrombocytopenia |
OMIM:616433 |
| Fanconi Anemia |
|
Abnormal femur morphology, Leukopenia, Triphalangeal thumb, Clinodactyly of the 5th finger, Finge... |
ORPHA:84 |
| Melnick-Needles Syndrome |
|
Omphalocele, Short humerus, Ureteral stenosis, Hypoplastic scapulae, Coxa valga, Flared metaphysi... |
OMIM:309350 |
| Van Maldergem Syndrome 2 |
|
Inguinal hernia, Short fourth metatarsal, Hypospadias, Clinodactyly, Renal hypoplasia, Cutaneous ... |
OMIM:615546 |
| Enlarged Parietal Foramina |
|
Broad thumb, Short clavicles |
ORPHA:60015 |
| Osteopetrosis With Renal Tubular Acidosis |
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Pancytopenia, Elevated circulating creatine kinase concentration, Proximal renal tubular acidosis... |
ORPHA:2785 |
| Hellp Syndrome |
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Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Proteinuria, Hemoglobinuri... |
ORPHA:244242 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
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Methylmalonic acidemia, Hypomethioninemia, Renal insufficiency, Ketonuria, Megaloblastic anemia, ... |
ORPHA:79282 |
| Cleidocranial Dysplasia 1 |
|
Hypoplastic scapulae, Aplastic clavicle, Short middle phalanx of the 2nd finger, Hip dislocation,... |
OMIM:119600 |
| Craniofacial Microsomia 1 |
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Occipital encephalocele, Block vertebrae, Partial duplication of thumb phalanx, Hemivertebrae, Ge... |
OMIM:164210 |
| Stevens-Johnson Syndrome |
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Renal insufficiency, Dysuria, Abnormality of neutrophils, Abnormality of the urethra, Thrombocyto... |
ORPHA:36426 |
| Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Pancytopenia, Aplastic anemia, Thrombocytopenia |
OMIM:224230 |
| Ogden Syndrome |
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Global glomerulosclerosis, Inguinal hernia, Congenital hip dislocation, Sandal gap, Broad hallux,... |
OMIM:300855 |
| Blue Rubber Bleb Nevus |
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Iron deficiency anemia, Thrombocytopenia |
OMIM:112200 |
| Ear-Patella-Short Stature Syndrome |
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Camptodactyly of finger, Aplastic clavicle, Craniosynostosis, Elbow dislocation, Delayed skeletal... |
ORPHA:2554 |
| Immunodeficiency With Hyper-Igm, Type 1 |
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Splenomegaly, Hemolytic anemia, Thrombocytopenia, Neutropenia |
OMIM:308230 |
| Alagille Syndrome 1 |
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Hypoplasia of the ulna, Abnormal rib morphology, Hemivertebrae, Butterfly vertebral arch, Short d... |
OMIM:118450 |
| Dextrocardia |
|
Congenital hip dislocation, Abnormal rib morphology |
ORPHA:1666 |
| Van Maldergem Syndrome 1 |
|
Short fourth metatarsal, Hypospadias, Renal hypoplasia, Cutaneous finger syndactyly, Short clavic... |
OMIM:601390 |
| Insulin-Resistance Syndrome Type B |
|
Abnormal circulating lipid concentration, Proteinuria, Abnormal circulating fatty-acid concentrat... |
ORPHA:2298 |
| Spondylodysplastic Ehlers-Danlos Syndrome |
|
Multiple joint contractures, Metaphyseal widening, Flexion contracture, Abnormal finger morpholog... |
ORPHA:536471 |
| Gaucher Disease, Type Ii |
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Splenomegaly, Thrombocytopenia, Anemia, Dysphagia |
OMIM:230900 |
| Wiskott-Aldrich Syndrome |
|
Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytopenia, Chronic le... |
ORPHA:906 |
| Autosomal Recessive Malignant Osteopetrosis |
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Bowing of the long bones, Recurrent fractures, Craniosynostosis, Abnormal rib morphology, Bone pa... |
ORPHA:667 |
| Trisomy 18 |
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Camptodactyly of finger, Spina bifida, Postaxial hand polydactyly, Delayed skeletal maturation, A... |
ORPHA:3380 |
| Floating-Harbor Syndrome |
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Renal cyst, Nephrocalcinosis, Humeral pseudarthrosis, Compulsive behaviors, Dislocated radial hea... |
ORPHA:2044 |
| Tick-Borne Encephalitis |
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Elevated circulating C-reactive protein concentration, Anorexia, Leukocytosis, Leukopenia, Dyspha... |
ORPHA:297 |
| Chronic Visceral Acid Sphingomyelinase Deficiency |
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Decreased HDL cholesterol concentration, Hypertriglyceridemia, Autoimmune thrombocytopenia, Hyper... |
ORPHA:77293 |
| Ulnar-Mammary Syndrome |
|
Deformed radius, Aplasia of the 3rd metacarpal, Aplasia of the 4th metacarpal, Aplasia of the 4th... |
OMIM:181450 |
| Kasabach-Merritt Syndrome |
|
Reticulocytosis, Thrombocytopenia, Leukopenia, Microangiopathic hemolytic anemia, Neutropenia, An... |
ORPHA:2330 |
| Pagod Syndrome |
|
Encephalocele, Death in infancy, Abnormal clavicle morphology, Spina bifida, Meningocele, Abnorma... |
ORPHA:991 |
| Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
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Hip contracture, Osteolysis involving bones of the upper limbs, Osteolysis involving bones of the... |
ORPHA:464321 |
| Catastrophic Antiphospholipid Syndrome |
|
Coombs-positive hemolytic anemia, Microangiopathic hemolytic anemia, Thrombocytopenia |
ORPHA:464343 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
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Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Functional abnormality of the bladder, ... |
ORPHA:391487 |
| Immunodeficiency 47 |
|
Normocytic anemia, Accessory spleen, Decreased circulating copper concentration, Splenomegaly, Le... |
OMIM:300972 |
| Idiopathic Hypereosinophilic Syndrome |
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Neutrophilia, Swelling of proximal interphalangeal joints, Eosinophilia, Thrombocytopenia, Leukoc... |
ORPHA:3260 |
| Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Hematuria, Neonatal alloimmune thrombocytopenia |
ORPHA:853 |
| 22Q11.2 Deletion Syndrome |
|
Inguinal hernia, Hypospadias, Abnormality of thrombocytes, Abnormal dental enamel morphology, Ara... |
ORPHA:567 |
| Floating-Harbor Syndrome |
|
Short middle phalanx of the 2nd finger, Glandular hypospadias, Nephrocalcinosis, Clinodactyly of ... |
OMIM:136140 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Hyponatremia, Renal insufficiency, Polydipsia, Hypersplenism, Splenomegaly, Oliguria, Stage 5 chr... |
ORPHA:731 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Abnormal penis morphology, Finger syndactyly, Inguinal hernia, Femoral hernia, Hypospadias, Abnor... |
ORPHA:2658 |
| Brucellosis |
|
Glomerulonephritis, Elevated circulating C-reactive protein concentration, Anorexia, Hypersplenis... |
ORPHA:1304 |
| Caroli Syndrome |
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Hypersplenism, Conjugated hyperbilirubinemia, Leukocytosis, Leukopenia, Hyperbilirubinemia, Polyc... |
ORPHA:480520 |
| Tangier Disease |
|
Hypertriglyceridemia, Hepatosplenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia |
ORPHA:31150 |
| Q Fever |
|
Anorexia, Splenomegaly, Hepatosplenomegaly, Hematuria, Anemia, Thrombocytopenia |
ORPHA:781 |
| Deeah Syndrome |
|
Decreased hemoglobin concentration, Dysphagia, Overlapping fingers, Micropenis, Self-mutilation, ... |
OMIM:619004 |
| Hereditary Acrokeratotic Poikiloderma |
|
Finger syndactyly, Camptodactyly of finger, Abnormal rib morphology, Joint hyperflexibility, Abno... |
ORPHA:2907 |
| Chime Syndrome |
|
Aplastic clavicle, Aplasia/Hypoplasia of the phalanges of the hand, Hip dislocation, Clubbing of ... |
ORPHA:3474 |
| Mogs-Cdg |
|
Overlapping fingers, Thrombocytopenia, Hepatosplenomegaly |
ORPHA:79330 |
| Marbach-Rustad Progeroid Syndrome |
|
Reduced subcutaneous adipose tissue, Femur fracture, Short clavicles |
OMIM:619322 |
| Townes-Brocks Syndrome |
|
Broad hallux phalanx, Toe syndactyly, Preaxial hand polydactyly, Partial duplication of thumb pha... |
ORPHA:857 |
| Dyskeratosis Congenita |
|
Abnormality of neutrophils, Thrombocytopenia, Splenomegaly, Urethral stenosis, Displacement of th... |
ORPHA:1775 |
| Nijmegen Breakage Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Acute leukemia, Pollakisuria, Attention deficit hy... |
ORPHA:647 |
| Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Limb joint contracture, Tapered finger, Splenomegaly, Flexion contracture, Thrombocytopenia |
OMIM:301072 |
| Sweeney-Cox Syndrome |
|
2-4 finger syndactyly, 2-5 finger cutaneous syndactyly, Asplenia, Long fingers, Short clavicles, ... |
OMIM:617746 |
| Jacobsen Syndrome |
|
Hypospadias, Flexion contracture, Clinodactyly of the 5th finger, Thrombocytopenia, Brachydactyly |
OMIM:147791 |
| Charge Syndrome |
|
Abnormal tibia morphology, Abnormal rib morphology, Hemivertebrae, Bifid femur, Abnormality of bo... |
ORPHA:138 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Congenital diaphragmatic hernia, Aplastic clavicle, Postaxial polydactyly, Preaxial polydactyly, ... |
OMIM:616546 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 |
|
Long toe, Bowing of the long bones, Arachnodactyly, Phalangeal dislocation, Coxa valga, Flexion c... |
OMIM:130070 |
| Rift Valley Fever |
|
Hematuria, Thrombocytopenia, Anemia, Anorexia |
ORPHA:319251 |
| Immunodeficiency 87 And Autoimmunity |
|
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic... |
OMIM:619573 |
| Wiskott-Aldrich Syndrome |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... |
OMIM:301000 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Hemolytic anemia, Anuria, Leukocytosis, Hyperkalemia, Oliguria, Hypocalcemia, Acute... |
ORPHA:544482 |
| Aicardi-Goutieres Syndrome 7 |
|
Hemolytic anemia, Pancytopenia, Splenomegaly, Increased circulating ferritin concentration, Anemi... |
OMIM:615846 |
| Pycnodysostosis |
|
Narrow iliac wing, Osteolytic defects of the distal phalanges of the hand, Aplastic clavicle, Bra... |
OMIM:265800 |
| Gaucher Disease |
|
Pancytopenia, Proteinuria, Elevated circulating C-reactive protein concentration, Splenomegaly, A... |
ORPHA:355 |
| Blomstrand Lethal Chondrodysplasia |
|
Short metacarpal, Bowing of the long bones, Aplastic clavicle, Flared metaphysis, Abnormal epiphy... |
ORPHA:50945 |
| Gaucher Disease Type 3 |
|
Pancytopenia, Proteinuria, Splenomegaly, Anemia, Hematuria, Thrombocytopenia |
ORPHA:77261 |
| Kikuchi-Fujimoto Disease |
|
Elevated circulating C-reactive protein concentration, Anorexia, Splenomegaly, Anemia, Leukopenia... |
ORPHA:50918 |
| Liver Disease, Severe Congenital |
|
Hyponatremia, Inguinal hernia, Hypospadias, Elevated circulating alpha-fetoprotein concentration,... |
OMIM:619991 |
| Exercise-Induced Malignant Hyperthermia |
|
Elevated circulating creatine kinase concentration, Hyperkalemia, Oliguria, Hyperphosphatemia, Hy... |
ORPHA:466650 |
| Crimean-Congo Hemorrhagic Fever |
|
Pancytopenia, Neutrophilia, Proteinuria, Elevated circulating creatine kinase concentration, Anor... |
ORPHA:99827 |
| Hardikar Syndrome |
|
Renal insufficiency, Hydroureter, Hypersplenism, Splenomegaly, Hepatosplenomegaly, Pyelonephritis... |
OMIM:301068 |
| Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Brachydactyly, Hydroureter, Abnormal distal phalanx morphology of finger, Aplastic clavicle, Larg... |
ORPHA:2636 |
| Yellow Fever |
|
Renal insufficiency, Neutrophilia, Anuria, Elevated circulating creatine kinase concentration, Le... |
ORPHA:99829 |
| Kindler Epidermolysis Bullosa |
|
Finger syndactyly, Camptodactyly of finger, Flexion contracture, Abnormal rib morphology, Short 4... |
ORPHA:2908 |
| Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Short fourth metatarsal, Short fifth metatarsal, Hypospadias, Aplasia of the right hemidiaphragm,... |
OMIM:619841 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Hallux valgus, Pancytopenia, Abnormality of the spleen, Splenomegaly, Hepatosplenomegaly, Anemia,... |
ORPHA:2072 |
| Dyskeratosis Congenita, X-Linked |
|
Acute myeloid leukemia, Pancytopenia, Hypospadias, Phimosis, Urethral stenosis, Horseshoe kidney,... |
OMIM:305000 |
| Systemic Lupus Erythematosus |
|
Hemolytic anemia, Proteinuria, Lupus nephritis, Pyuria, Hematuria, Leukopenia, Thrombocytopenia |
ORPHA:536 |
| Digeorge Syndrome |
|
Renal insufficiency, Inguinal hernia, Femoral hernia, Unilateral renal agenesis, Splenomegaly, An... |
OMIM:188400 |
| Charge Syndrome |
|
Hypoplasia of the ulna, Down-sloping shoulders, Absent radius, Short thumb, Absent tibia, Radial ... |
OMIM:214800 |
| Cdags Syndrome |
|
Rectourethral fistula, Hypospadias, Short clavicles |
OMIM:603116 |
| Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Tarsal synostosis, Hypospadias, Abnormal dental enamel morphology, Aplastic clavicle |
ORPHA:85199 |
| Aicardi-Goutières Syndrome |
|
Multiple joint contractures, Lipoatrophy, Neonatal alloimmune thrombocytopenia, Chronic lymphatic... |
ORPHA:51 |
| Primary Sjögren Syndrome |
|
Normocytic anemia, Renal insufficiency, Glomerulonephritis, Leukopenia, Normochromic anemia, Tubu... |
ORPHA:289390 |
| Sarcoidosis |
|
Hemolytic anemia, Renal insufficiency, Eosinophilia, Hypercalcemia, Scarring, Increased T cell co... |
ORPHA:797 |
| Congenital Disorder Of Glycosylation, Type Iiw |
|
Inguinal hernia, Membranoproliferative glomerulonephritis, Microcytic anemia, Splenomegaly, Moder... |
OMIM:619525 |
| Leptospirosis |
|
Anorexia, Cellular urinary casts, Hyperproteinemia, Acute kidney injury, Thrombocytopenia |
ORPHA:509 |
| Acute Liver Failure |
|
Hyperammonemia, Acute kidney injury, Agitation, Thrombocytopenia |
ORPHA:90062 |
| Yunis-Varon Syndrome |
|
Congenital hip dislocation, Short metatarsal, Absent hallux, Micropenis, Hypospadias, Aplastic cl... |
OMIM:216340 |
| Restrictive Dermopathy 1 |
|
Ureteral duplication, Limb joint contracture, Hypospadias, Rocker bottom foot, Flexion contractur... |
OMIM:275210 |
| Noonan Syndrome 1 |
|
Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Hypospadias, Radial deviation... |
OMIM:163950 |
| Igg4-Related Dacryoadenitis And Sialadenitis |
|
Tubulointerstitial nephritis, Thrombocytopenia |
ORPHA:79078 |
| Microphthalmia, Syndromic 1 |
|
Syndactyly, Hydroureter, Hypospadias, Down-sloping shoulders, Aggressive behavior, Renal hypoplas... |
OMIM:309800 |
| Hutchinson-Gilford Progeria Syndrome |
|
Coxa valga, Absence of subcutaneous fat, Hip dislocation, Osteolytic defects of the distal phalan... |
ORPHA:740 |
