| Klippel-Feil Syndrome 3, Autosomal Dominant |
|
Thoracic scoliosis, Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion |
OMIM:613702 |
| Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Abnormality of the odontoid process, Death in infancy, Vertebral fusion, Hemivertebrae, Kyphoscol... |
OMIM:277300 |
| Isolated Klippel-Feil Syndrome |
|
Abnormality of the vertebral column, Abnormal sacrum morphology, Abnormal vertebral segmentation ... |
ORPHA:2345 |
| Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Cervical C2/C3 vertebral fusion, Fused cervical vertebrae, Sprengel anomaly, Short neck, Scoliosis |
OMIM:214300 |
| X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Short middle phalanx of finger, Abnormal sacrum morphology, Fused cervical vertebrae, Thoracic he... |
ORPHA:1436 |
| Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Abnormality of the elbow, Pectus carinatum, Finger syndactyly, Abnormal rib morphology, Delayed s... |
ORPHA:3268 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Pectus excavatum, Abnormal clavicle morphology, Fused cervical vertebrae, Kyphosis, Abnormal rib ... |
ORPHA:2522 |
| Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ... |
OMIM:606842 |
| Chondrocalcinosis Due To Apatite Crystal Deposition |
|
Costal cartilage calcification, Chondrocalcinosis, Costochondral pain, Osteoarthritis of the smal... |
OMIM:118610 |
| Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
|
Short middle phalanx of finger, Fused cervical vertebrae, Thoracic hemivertebrae, Prominent metop... |
OMIM:309620 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Tarsal synostosis, Absent phalangeal crease, Antecubital pterygium, Fused cervical vertebrae, Sho... |
OMIM:618469 |
| Wildervanck Syndrome |
|
Fused cervical vertebrae |
OMIM:314600 |
| Heart Defects-Limb Shortening Syndrome |
|
Death in infancy, Abnormal form of the vertebral bodies, Abnormality of the metaphysis, Kyphosis,... |
ORPHA:1354 |
| Asymmetric Short Stature Syndrome |
|
Lumbar scoliosis, Fused cervical vertebrae |
OMIM:108450 |
| Spondylocostal Dysostosis 5 |
|
Butterfly vertebrae, Vertebral fusion, Hemivertebrae, Pectus carinatum, Posterior rib fusion, Mis... |
OMIM:122600 |
| Familial Congenital Mirror Movements |
|
Fused cervical vertebrae |
ORPHA:238722 |
| Spondylometaphyseal Dysplasia, East African Type |
|
Genu varum, Metaphyseal widening, Rounded epiphyses, Ovoid vertebral bodies, Coxa vara, Bell-shap... |
OMIM:611702 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Abnormality of the odontoid process, Vertebral fusion, Hemivertebrae, Myelomeningocele, Missing r... |
OMIM:613686 |
| Endosteal Hyperostosis, Worth Type |
|
Diaphyseal thickening, Sclerotic vertebral body, Generalized osteosclerosis, Abnormal form of the... |
ORPHA:2790 |
| Fibrodysplasia Ossificans Progressiva |
|
Broad femoral neck, Hallux valgus, Ectopic ossification in muscle tissue, Ectopic ossification in... |
OMIM:135100 |
| Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Amegakaryocytic thrombocytopenia, Finger syndactyly, Hip dysplasia, Clinodactyly of the 5th finge... |
ORPHA:71289 |
| Spondylometaphyseal Dysplasia, Type A4 |
|
Broad ischia, Coxa valga, Pectus carinatum, Metaphyseal widening, Metaphyseal irregularity, Platy... |
OMIM:609052 |
| Kniest Dysplasia |
|
Short thorax, Abnormal bone structure, Short long bone, Coronal cleft vertebrae, Vertebral wedgin... |
ORPHA:485 |
| Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
| Microcephaly With Cervical Spine Fusion Anomalies |
|
Spinal instability, Vertebral fusion |
OMIM:251250 |
| Atelosteogenesis, Type I |
|
Distal tapering femur, Short metatarsal, Neonatal death, 11 pairs of ribs, Short humerus, Short f... |
OMIM:108720 |
| Immunodeficiency 8 |
|
Hyperactivity, Lymphopenia |
OMIM:615401 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Death in infancy, Vertebral fusion, Short long bone, Short thorax, Sacral dimple, Vertebral segme... |
OMIM:618845 |
| Dextrocardia With Unusual Facies And Microphthalmia |
|
Vertebral segmentation defect, Supernumerary ribs, Vertebral fusion |
OMIM:221950 |
| Cardiospondylocarpofacial Syndrome |
|
Tarsal synostosis, Cone-shaped epiphysis, Fused cervical vertebrae, Pseudoepiphyses, Carpal synos... |
OMIM:157800 |
| Frontometaphyseal Dysplasia 1 |
|
Increased density of long bone diaphyses, Ankle flexion contracture, Long phalanx of finger, Coxa... |
OMIM:305620 |
| Diaphanospondylodysostosis |
|
Absent or minimally ossified vertebral bodies, Myelomeningocele, Abnormal vertebral segmentation ... |
ORPHA:66637 |
| Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Kyphosis, Slender finger, Scoliosis, Rib fusion, Hypoplasia of the odontoid process, Vertebral se... |
OMIM:609813 |
| Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Short 3rd metacarpal, Short 5th metacarpal, Curved distal phalanx of the thumb, Bifid distal phal... |
ORPHA:370010 |
| Sacral Agenesis With Vertebral Anomalies |
|
Absence of the sacrum, Abnormal vertebral morphology |
OMIM:615709 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Fibular aplasia, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasia of the patella, Genu varum... |
ORPHA:3320 |
| Wildervanck Syndrome |
|
Meningocele, Short neck, Fused cervical vertebrae |
ORPHA:3456 |
| Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Abnormal vertebral segmentation and fusion, Cervical C2/C3 vertebral fusion, Abnormality of limb ... |
OMIM:118100 |
| Kyphomelic Dysplasia |
|
Anterior rib cupping, Lateral clavicle hook, Bowing of the long bones, Abnormal form of the verte... |
ORPHA:1801 |
| Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
|
Tarsal synostosis, Posterior fusion of lumbosacral vertebrae, Abnormal form of the vertebral bodi... |
ORPHA:2064 |
| Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Hemivertebrae, Vertebral clefting, Rib fusion, Short neck, Vertebral segmentation defect |
OMIM:608681 |
| Lamb-Shaffer Syndrome |
|
Hip dysplasia, Thoracic kyphosis, Scoliosis, Fused cervical vertebrae |
ORPHA:530983 |
| Mental Retardation, Autosomal Dominant 45 |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617600 |
| Symbrachydactyly Of Hands And Feet |
|
Abnormality of the ulna, Abnormality of the humeroulnar joint, Aplasia/Hypoplasia of the thumb, A... |
ORPHA:1570 |
| Metatropic Dysplasia |
|
Long thorax, Abnormal intervertebral disk morphology, Abnormal form of the vertebral bodies, Abno... |
ORPHA:2635 |
| Thanatophoric Dysplasia, Type Ii |
|
Small abnormally formed scapulae, Short greater sciatic notch, Wide-cupped costochondral junction... |
OMIM:187601 |
| Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Cervical C2/C3 vertebral fusion, Flexion contracture, Acetabular dysplasia, Short neck, Thoracolu... |
OMIM:616549 |
| Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
| Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis |
|
Posterior fusion of lumbosacral vertebrae |
OMIM:192800 |
| Spondyloepiphyseal Dysplasia Tarda, Kohn Type |
|
Abnormal ilium morphology, Abnormality of the knee, Abnormal vertebral morphology, Restricted lar... |
ORPHA:163665 |
| Stapes Ankylosis With Broad Thumbs And Toes |
|
Toe syndactyly, Fused cervical vertebrae, Proximal/middle symphalangism of 5th finger, Short dist... |
OMIM:184460 |
| Acromesomelic Dysplasia, Maroteaux Type |
|
Vertebral wedging, Beaking of vertebral bodies, Bowing of the long bones, Abnormal form of the ve... |
ORPHA:40 |
| Spondylometaphyseal Dysplasia, A4 Type |
|
Flared, irregular rib ends, Platyspondyly, Coxa vara, Short palm, Limitation of joint mobility |
ORPHA:168555 |
| Mesomelic Dysplasia, Kantaputra Type |
|
Tarsal synostosis, Abnormality of the humerus, Ulnar deviation of finger, Cubitus valgus, Synosto... |
ORPHA:1836 |
| Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
|
Periostitis, Osteomyelitis, Fused cervical vertebrae, Osteopenia, Flaring of rib cage, Broad ribs... |
OMIM:612852 |
| Sprengel Deformity |
|
Cervical segmentation defect, Hemivertebrae, Rib segmentation abnormalities, Sprengel anomaly, Sp... |
OMIM:184400 |
| Schneckenbecken Dysplasia |
|
Anterior rib cupping, Lateral clavicle hook, Hypoplastic scapulae, Metaphyseal irregularity, Stil... |
OMIM:269250 |
| Brachyolmia, Maroteaux Type |
|
Pectus excavatum, Abnormal form of the vertebral bodies, Short thorax, Platyspondyly, Scoliosis |
ORPHA:93302 |
| Autosomal Dominant Brachyolmia |
|
Kyphoscoliosis, Short thorax, Abnormality of the metaphysis, Platyspondyly, Increased vertebral h... |
ORPHA:93304 |
| Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Hyperactivity |
OMIM:617028 |
| Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
| Thrombocytopenia 4 |
|
Thrombocytopenia |
OMIM:612004 |
| Osteogenesis Imperfecta, Type Ix |
|
Decreased calvarial ossification, Pectus excavatum, Short lower limbs, Pectus carinatum, Multiple... |
OMIM:259440 |
| Epiphyseal Dysplasia, Multiple, 6 |
|
Irregular epiphyses, Small epiphyses, Arthralgia of the hip, Flat capital femoral epiphysis, Abno... |
OMIM:614135 |
| Acropectorovertebral Dysplasia |
|
Toe syndactyly, Capitate-hamate fusion, Abnormal vertebral morphology, Bifid distal phalanx of th... |
OMIM:102510 |
| Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Thoracic hypoplasia, Irregular epiphyses, Small epiphyses, Metaphyseal spurs, Bowing of the legs,... |
OMIM:608728 |
| Autosomal Dominant Spondylocostal Dysostosis |
|
Abnormal sacrum morphology, Posterior rib fusion, Missing ribs, Short thorax, Spina bifida occult... |
ORPHA:1797 |
| Brachydactyly, Type B1 |
|
Cutaneous finger syndactyly, Short middle phalanx of finger, Vertebral fusion, Hemivertebrae, Bro... |
OMIM:113000 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Tarsal synostosis, Vertebral fusion, Hip contracture, Hemivertebrae, Pectus carinatum, Craniosyno... |
OMIM:178110 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Syndactyly, Umbilical hernia, Dysplastic patella, Patellar aplasia, Neck pterygia, Rocker bottom ... |
OMIM:265000 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Upper limb undergrowth, Abnormal joint morphology, Pectus carinatum, Abnormality of epiphysis mor... |
ORPHA:93351 |
| Thoracolaryngopelvic Dysplasia |
|
Horizontal ribs, Irregular chondrocostal junctions, Irregular vertebral endplates, Hypoplastic il... |
OMIM:187760 |
| Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Irregular vertebral endplates, Beaking of vertebral bodies, Hypoplastic iliac wing, Enlarged meta... |
OMIM:609616 |
| 22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
| Thrombocytopenia 2 |
|
Leukocytosis, Thrombocytopenia |
OMIM:188000 |
| Mental Retardation, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Upper limb undergrowth, Metaphyseal dysplasia, Capitate-hamate fusion, Pectus carinatum, Short me... |
OMIM:271650 |
| Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
| Thrombocytopenic Purpura, Autoimmune |
|
Thrombocytopenia |
OMIM:188030 |
| Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Absent ossification of cervical vertebral bodies, Lumbar platyspondyly, Neonatal death, Sclerotic... |
OMIM:601376 |
| Multiple Synostoses Syndrome 2 |
|
Tarsal synostosis, Proximal symphalangism, Vertebral fusion, Finger symphalangism, Carpal synosto... |
OMIM:610017 |
| Osteomesopyknosis |
|
Sclerotic vertebral body, Abnormal form of the vertebral bodies, Abnormal cortical bone morpholog... |
ORPHA:2777 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Osteosclerosis of ribs, Genu varum, Metaphyseal irregularity, Short tubular bones of the hand, Fe... |
ORPHA:174 |
| Malaria |
|
Gait imbalance, Anemia, Hyperbilirubinemia, Acute kidney injury, Thrombocytopenia, Elevated circu... |
ORPHA:673 |
| Spondylometaphyseal Dysplasia, Axial |
|
Proximal femoral metaphyseal irregularity, Thoracic hypoplasia, Anterior rib cupping, Platyspondy... |
OMIM:602271 |
| Kbg Syndrome |
|
Vertebral fusion, Radial deviation of finger, Cervical ribs, Vertebral arch anomaly, Thoracic kyp... |
OMIM:148050 |
| Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Pectus excavatum, Butterfly vertebrae, Fused cervical vertebrae, Sprengel anomaly, Spina bifida o... |
OMIM:619227 |
| Bleeding Disorder, Platelet-Type, 9 |
|
Thrombocytopenia |
OMIM:614200 |
| Thanatophoric Dysplasia, Type I |
|
Small abnormally formed scapulae, Short greater sciatic notch, Wide-cupped costochondral junction... |
OMIM:187600 |
| Thrombocytopenia, Cyclic |
|
Thrombocytopenia, Neutropenia, Cyclic neutropenia |
OMIM:188020 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Knee dislocation, Thin ribs, Irregular vertebral endplates, Multiple joint dislocation, Tapered f... |
OMIM:618395 |
| Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Thoracic hypoplasia, Knee dislocation, Small epiphyses, Coxa valga, Hip contracture, Coronal clef... |
OMIM:618363 |
| Thrombocytopenia 7 |
|
Reduced platelet dense granules, Impaired ristocetin-induced platelet aggregation, Impaired colla... |
OMIM:619130 |
| Osteoarthritis With Mild Chondrodysplasia |
|
Heberden's node, Hip osteoarthritis, Schmorl's node, Irregular vertebral endplates, Beaking of ve... |
OMIM:604864 |
| Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology |
ORPHA:2435 |
| Kuskokwim Syndrome |
|
Aplasia/Hypoplasia of the patella, Abnormal clavicle morphology, Abnormal form of the vertebral b... |
ORPHA:1149 |
| Pseudoachondroplasia |
|
Genu varum, Abnormal form of the vertebral bodies, Metaphyseal irregularity, Abnormality of femor... |
ORPHA:750 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Genu varum, Death in infancy, Phocomelia, Bilateral radial aplasia, Finger syndactyly, Short phal... |
OMIM:274000 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Irregular acetabular roof, Pectus carinatum, Kyphoscoliosis, Platyspondyly, Coxa vara, Flared met... |
OMIM:184252 |
| Atelosteogenesis, Type Ii |
|
Thoracic hypoplasia, Death in infancy, Increased intervertebral space, Coronal cleft vertebrae, H... |
OMIM:256050 |
| Dk Phocomelia Syndrome |
|
Thrombocytopenia, Phocomelia |
OMIM:223340 |
| Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Thrombocytopenia |
OMIM:124900 |
| Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
C1-C2 subluxation, Anterior rib cupping, Metaphyseal dappling, Pectus carinatum, Delayed pubic bo... |
OMIM:184250 |
| Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Metaphyseal cupping, Thin ribs, Short ribs, Severe platyspondyly, Disc-like vertebral bodies, Nar... |
OMIM:151210 |
| Ring Chromosome 21 Syndrome |
|
Small hand, Abnormal thorax morphology, Clinodactyly, Syndactyly, Thoracic hemivertebrae, Fused t... |
ORPHA:1445 |
| Polydactyly, Postaxial, With Dental And Vertebral Anomalies |
|
Tarsal synostosis, Toe syndactyly, Spinal canal stenosis, Pectus excavatum, 2-3 toe syndactyly, V... |
OMIM:263540 |
| Achondrogenesis, Type Ii |
|
Horizontal ribs, Broad long bones, Hypoplastic iliac wing, Short ribs, Stillbirth, Absent vertebr... |
OMIM:200610 |
| Axial Spondylometaphyseal Dysplasia |
|
Abnormal ilium morphology, Upper limb undergrowth, Short ribs, Cupped ribs, Iliac crest serration... |
ORPHA:168549 |
| Osteogenesis Imperfecta, Type Xv |
|
Thin ribs, Platyspondyly, Joint hypermobility, Bowing of limbs due to multiple fractures, Recurre... |
OMIM:615220 |
| Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Abnormality of the cervical spine, Superior rib anomalies |
OMIM:307500 |
| Poland Syndrome |
|
Hemivertebrae, Unilateral oligodactyly, Short ribs, Sprengel anomaly, Syndactyly, Rib fusion, Uni... |
OMIM:173800 |
| Frontometaphyseal Dysplasia |
|
Short metatarsal, Joint contracture of the hand, Progressive bowing of long bones, Camptodactyly ... |
ORPHA:1826 |
| Achondrogenesis, Type Ia |
|
Short clavicles, Hypoplastic scapulae, Abnormal hand bone ossification, Unossified vertebral bodi... |
OMIM:200600 |
| Roch-Leri Mesosomatous Lipomatosis |
|
Thrombocytopenia, Multiple lipomas |
ORPHA:529 |
| Otopalatodigital Syndrome Type 1 |
|
Short hallux, Abnormal vertebral segmentation and fusion, Bowing of the long bones, Synostosis of... |
ORPHA:90650 |
| Pseudoachondroplasia |
|
Genu varum, Fragmented epiphyses, Metaphyseal irregularity, Genu recurvatum, Fragmented, irregula... |
OMIM:177170 |
| Verheij Syndrome |
|
Vertebral fusion, Hemivertebrae, Clinodactyly, Short 5th finger, Hip dislocation, Short neck, Sco... |
OMIM:615583 |
| Developmental And Speech Delay Due To Sox5 Deficiency |
|
Thoracic kyphoscoliosis, 2-3 toe syndactyly, Butterfly vertebrae, Vertebral fusion, Pectus carina... |
ORPHA:313892 |
| Mosaic Trisomy 20 |
|
Limited pronation/supination of forearm, Spinal canal stenosis, Vertebral fusion, Clinodactyly, K... |
ORPHA:1724 |
| Amegakaryocytic Thrombocytopenia, Congenital |
|
Pancytopenia, Thrombocytopenia, Amegakaryocytic thrombocytopenia |
OMIM:604498 |
| Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Short lower limbs, Upper limb undergrowth, Genu varum, Metaphyseal irregularity, Reduced bone min... |
ORPHA:93315 |
| Acrocapitofemoral Dysplasia |
|
Genu varum, Short middle phalanx of finger, Dysplasia of the femoral head, Cone-shaped epiphysis ... |
OMIM:607778 |
| Multiple Pterygium Syndrome, X-Linked |
|
Vertebral fusion, Thin ribs, Short finger, Increased susceptibility to fractures, Joint dislocati... |
OMIM:312150 |
| Kbg Syndrome |
|
Vertebral fusion, Cutaneous syndactyly, Cervical ribs, Thoracic kyphosis, Delayed skeletal matura... |
ORPHA:2332 |
| Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Short neck, Vertebral segmentation defect, Abnormal rib morphology |
ORPHA:2578 |
| Diastrophic Dysplasia |
|
Abnormal form of the vertebral bodies, Symphalangism affecting the phalanges of the hand, Proxima... |
ORPHA:628 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Femoral bowing, Tibial bowing, Short finger, Metaphyseal widening, Metaphyseal irregularity, Hypo... |
OMIM:608940 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Thoracic hypoplasia, Neonatal death, Bowing of the long bones, Anisospondyly, Short long bone |
OMIM:224410 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Abnormality of epiphysis morphology, Abnormal clavicle morphology, Bowing of the long bones, Plat... |
ORPHA:93267 |
| Lethal Congenital Contracture Syndrome Type 1 |
|
Abnormality of the elbow, Abnormal form of the vertebral bodies, Abnormal cortical bone morpholog... |
ORPHA:1486 |
| Juberg-Hayward Syndrome |
|
Toe syndactyly, Abnormality of the elbow, Abnormal vertebral morphology, Hammertoe, Hypoplasia of... |
ORPHA:2319 |
| Multiple Pterygium Syndrome, Lethal Type |
|
Vertebral fusion, Thin ribs, Short finger, Increased susceptibility to fractures, Joint dislocati... |
OMIM:253290 |
| Keratoconus Posticus Circumscriptus |
|
Limited elbow extension and supination, Abnormal vertebral segmentation and fusion, Clinodactyly ... |
OMIM:244600 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Femoral bowing, Small epiphyses, Genu varum, Tibial bowing, Metaphyseal cupping, Pear-shaped vert... |
OMIM:602111 |
| Fanconi Anemia, Complementation Group I |
|
Hypoplasia of the radius, Fused cervical vertebrae, Short 1st metacarpal, Short thumb, Absent thu... |
OMIM:609053 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal platelet function, Anemia, Abnormal hemoglobin, Splenomegaly, Thrombocytopenia |
ORPHA:231393 |
| Wt Limb-Blood Syndrome |
|
Hypoplastic anemia, Ulnar deviation of the 3rd finger, Radioulnar synostosis, Leukemia, Short thu... |
OMIM:194350 |
| Dyggve-Melchior-Clausen Disease |
|
Abnormality of the vertebral column, Metaphyseal dysplasia, Hypoplastic acetabulae, Short thorax,... |
ORPHA:239 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity |
|
Hypoplastic ilia, Abnormality of the elbow, Abnormal vertebral morphology, Beaking of vertebral b... |
ORPHA:93359 |
| Bruck Syndrome 1 |
|
Ankle flexion contracture, Hip contracture, Vertebral wedging, Pectus carinatum, Increased suscep... |
OMIM:259450 |
| Lethal Congenital Contracture Syndrome 1 |
|
Widening of cervical spinal canal, Arthrogryposis multiplex congenita, Abnormal thorax morphology... |
OMIM:253310 |
| Becker Nevus Syndrome |
|
Pectus excavatum, Cervical ribs, Scoliosis, Hemivertebrae |
OMIM:604919 |
| Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related |
|
Macrothrombocytopenia |
OMIM:613112 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Vertebral fusion, Achilles tendon contracture, Kyphosis, Hyperlordosis, Scoliosis |
OMIM:606612 |
| Pancytopenia And Occlusive Vascular Disease |
|
Pancytopenia, Thrombocytopenia, Anemia, Leukopenia |
OMIM:167850 |
| Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Ataxia |
OMIM:617113 |
| Mental Retardation, Autosomal Dominant 52 |
|
Hyperactivity |
OMIM:617796 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
2-3 toe syndactyly, Broad hallux, Thoracic scoliosis, Hip dislocation, Spina bifida, Short neck, ... |
ORPHA:508498 |
| Beemer Lethal Malformation Syndrome |
|
Thrombocytopenia |
OMIM:209970 |
| Insulin-Like Growth Factor I Deficiency |
|
Radial deviation of finger, Hyperactivity, Clinodactyly |
OMIM:608747 |
| Holt-Oram Syndrome |
|
Pectus excavatum, Triphalangeal thumb, Phocomelia, Abnormal clavicle morphology, Aplasia/Hypoplas... |
ORPHA:392 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Vertebral fusion, Hemivertebrae, Thin ribs, Missing ribs, Short ribs, Supernumerary vertebrae, Bl... |
OMIM:271520 |
| Endosteal Hyperostosis, Autosomal Dominant |
|
Sclerotic vertebral body, Thickened cortex of long bones, Hyperostosis, Metatarsal diaphyseal end... |
OMIM:144750 |
| Achondrogenesis, Type Ib |
|
Absent or minimally ossified vertebral bodies, Stillbirth, Short ribs, Narrow chest, Umbilical he... |
OMIM:600972 |
| Mental Retardation, Autosomal Dominant 33 |
|
Hyperactivity |
OMIM:616311 |
| Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Long clavicles, Genu varum, Lateral clavicle hook, Phocomelia, Aplasia/Hypoplasia of the thumb, S... |
OMIM:171480 |
| Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly |
|
Hyperactivity, Inability to walk |
OMIM:616657 |
| Bleeding Disorder, Platelet-Type, 16 |
|
Anemia, Giant platelets, Thrombocytopenia, Macrothrombocytopenia, Platelet anisocytosis, Impaired... |
OMIM:187800 |
| Nephrotic Syndrome, Type 7 |
|
Nephrotic syndrome, Hemolytic-uremic syndrome, Stage 5 chronic kidney disease, Acute kidney injur... |
OMIM:615008 |
| Congenital Disorder Of Glycosylation, Type Iik |
|
Metaphyseal dysplasia, Elevated circulating creatine kinase concentration, Epiphyseal dysplasia, ... |
OMIM:614727 |
| Femoral-Facial Syndrome |
|
Abnormal sacrum morphology, Sprengel anomaly, Coxa vara, Hip dysplasia, Abnormal rib morphology, ... |
ORPHA:1988 |
| Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Vertebral fusion, Hemivertebrae, Abnormal form of the vertebral bodies, Kyphosis, Patellar disloc... |
ORPHA:2916 |
| Arnold-Chiari Malformation Type I |
|
Stiff neck, Cervical C2/C3 vertebral fusion, Fused cervical vertebrae, Anteriorly placed odontoid... |
ORPHA:268882 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Thin ribs, Hypoplastic iliac wing, Metaphyseal cupping of metacarpals, Platyspondyly, Decreased s... |
OMIM:300863 |
| Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Delayed skeletal maturation, Small epiphyses, Anterior rib cupping, Metaphyseal cupping of metaca... |
OMIM:300232 |
| Osteogenesis Imperfecta, Type Xvi |
|
Joint hypermobility, Vertebral compression fracture, Beaded ribs, Osteopenia |
OMIM:616229 |
| Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Abnormality of the humeroulnar joint, Hemivertebrae, Abnormal form of the vertebral bodies, Abnor... |
ORPHA:2234 |
| Osteogenesis Imperfecta, Type Xviii |
|
Biconcave vertebral bodies, Thin bony cortex, Thin ribs, Bowing of the long bones, Wormian bones,... |
OMIM:617952 |
| Mucopolysaccharidosis Type 4 |
|
Spinal canal stenosis, Pectus carinatum, Abnormality of epiphysis morphology, Bowing of the long ... |
ORPHA:582 |
| Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Hemivertebrae, Abnormal form of the vertebral bodies, Sandal gap, Sprengel anomaly, Abnormal rib ... |
ORPHA:2180 |
| Fibrochondrogenesis 1 |
|
Broad ischia, Joint contracture of the hand, Short ribs, Camptodactyly, Short long bone, Anterior... |
OMIM:228520 |
| Myotonia With Skeletal Abnormalities And Mental Retardation |
|
Pectus carinatum, Vertebral wedging, Kyphoscoliosis, Genu valgum, Bell-shaped thorax, Irregular f... |
OMIM:255710 |
| Aarskog-Scott Syndrome |
|
Pectus excavatum, Abnormal vertebral segmentation and fusion, Small hand, Abnormality of the cerv... |
ORPHA:915 |
| Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Neutropenia, Pancytopenia, Dysmetria, Acute myelomonocytic leukemia, Anemia, ... |
OMIM:159550 |
| Acrodysplasia Scoliosis |
|
Vertebral segmentation defect, Scoliosis, Brachydactyly, Spina bifida occulta |
ORPHA:2956 |
| Osteogenesis Imperfecta, Type Ii |
|
Thoracic hypoplasia, Tibial bowing, Broad long bones, Thin ribs, Platyspondyly, Wormian bones, Mu... |
OMIM:166210 |
| Mental Retardation, Autosomal Recessive 37 |
|
Hyperactivity |
OMIM:615493 |
| Becker Nevus Syndrome |
|
Abnormality of tibia morphology, Pectus excavatum, Pectus carinatum, Kyphosis, Supernumerary ribs... |
ORPHA:64755 |
| Gorlin Syndrome |
|
Vertebral fusion, Hemivertebrae, Vertebral wedging, Arachnodactyly, Scoliosis, Brachydactyly |
ORPHA:377 |
| Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Irregular epiphyses, Shield chest, Hip osteoarthritis, Hypoplastic iliac wing, Platyspondyly, Kyp... |
OMIM:313400 |
| Jeune Syndrome |
|
Toe syndactyly, Cone-shaped epiphysis, Abnormal sternum morphology, Abnormal clavicle morphology,... |
ORPHA:474 |
| White Forelock With Malformations |
|
Finger syndactyly, Sprengel anomaly, Abnormal rib morphology, Delayed skeletal maturation, Clinod... |
ORPHA:2475 |
| Duane-Radial Ray Syndrome |
|
Aplasia of metacarpal bones, Triphalangeal thumb, Hypoplasia of the radius, Fused cervical verteb... |
OMIM:607323 |
| Dyggve-Melchior-Clausen Disease |
|
Genu varum, Shield chest, Short metatarsal, Prominent calcaneus, Brachydactyly, Iliac crest serra... |
OMIM:223800 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Genu varum, Metaphyseal irregularity, Delayed epiphyseal ossification, Platyspondyly, Vertebral h... |
OMIM:602557 |
| Melnick-Needles Syndrome |
|
Short clavicles, Abnormality of the pubic bone, Bowing of the long bones, Short thorax, Abnormali... |
ORPHA:2484 |
| Preeclampsia/Eclampsia 1 |
|
Thrombocytopenia, Proteinuria |
OMIM:189800 |
| Fanconi Anemia, Complementation Group T |
|
Pancytopenia, Anemia, Short thumb, Duplication of thumb phalanx, Thrombocytopenia |
OMIM:616435 |
| Lateral Meningocele Syndrome |
|
Biconcave vertebral bodies, Meningocele, Pectus excavatum, Vertebral fusion, Sclerosis of skull b... |
OMIM:130720 |
| Osteogenesis Imperfecta, Type Xxi |
|
Pectus excavatum, Bowing of the legs, Osteoporosis, Wormian bones, Platyspondyly, Joint hypermobi... |
OMIM:619131 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Death in infancy, Thin ribs, Abnormality of the calcaneus, Hypoplastic iliac wing, Metaphyseal cu... |
ORPHA:163966 |
| Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity |
ORPHA:356996 |
| Smith-Magenis syndrome |
|
Hyperactivity, Brachydactyly |
DECIPHER:8 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Thrombocytopenia |
OMIM:166990 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Meningocele, Abnormal intervertebral disk morphology, Abnormal form of the vertebral bodies, Rib ... |
ORPHA:2311 |
| Osteogenesis Imperfecta, Type Vi |
|
Biconcave vertebral bodies, Beaking of vertebral bodies, Increased susceptibility to fractures, C... |
OMIM:613982 |
| Mucopolysaccharidosis, Type Iva |
|
Epiphyseal deformities of tubular bones, Cervical subluxation, Metaphyseal widening, Pointed prox... |
OMIM:253000 |
| Phaver Syndrome |
|
Broad hallux phalanx, Butterfly vertebrae, Triphalangeal thumb, Myelomeningocele, Ulnar deviation... |
ORPHA:2876 |
| Septopreoptic Holoprosencephaly |
|
Abnormal rib morphology, Abnormal vertebral morphology |
ORPHA:280195 |
| Osteogenesis Imperfecta, Type Iii |
|
Biconcave vertebral bodies, Decreased calvarial ossification, Tibial bowing, Thin ribs, Wormian b... |
OMIM:259420 |
| Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Hemivertebrae, Abnormal form of the vertebral bodies, Missing ribs, Arachnodactyly, Abnormal rib ... |
ORPHA:2759 |
| Thakker-Donnai Syndrome |
|
Short neck, Cervical C2/C3 vertebral fusion, Hemivertebrae |
ORPHA:1780 |
| Bleeding Disorder, Platelet-Type, 24 |
|
Impaired epinephrine-induced platelet aggregation, Increased mean platelet volume, Impaired arach... |
OMIM:619271 |
| Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa |
|
Biconcave vertebral bodies, Short clavicles, Prominent deltoid tuberosities, Short ribs, Short hu... |
OMIM:610319 |
| Eosinophilia, Familial |
|
Leukocytosis, Eosinophilia, Anemia, Thrombocytopenia |
OMIM:131400 |
| Spondylocarpotarsal Synostosis Syndrome |
|
Capitate-hamate fusion, C2-C3 subluxation, Epiphyseal dysplasia, Limited elbow extension, Delayed... |
OMIM:272460 |
| Fanconi Anemia, Complementation Group G |
|
Neutropenia, Leukemia, Anemia, Abnormal thumb morphology, Thrombocytopenia |
OMIM:614082 |
| Cooper-Jabs Syndrome |
|
Missing ribs, Proximal placement of thumb, Reduced bone mineral density, Abnormal rib morphology,... |
ORPHA:1488 |
| 3M Syndrome |
|
Short thorax, Delayed skeletal maturation, Hypoplastic pelvis, Increased vertebral height, Rocker... |
ORPHA:2616 |
| Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal form of the vertebral bodies, Abnormal rib morphology |
ORPHA:93941 |
| Multiple Synostoses Syndrome 1 |
|
Short lower limbs, 2-3 toe syndactyly, Cutaneous finger syndactyly, Lower limb undergrowth, Cubit... |
OMIM:186500 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Neutropenia, Leukopenia, Anemia, Splenomegaly, Extramedullary hematopoiesis, Thrombocytopenia |
OMIM:615285 |
| Atypical Hemolytic Uremic Syndrome |
|
Microangiopathic hemolytic anemia, Hematuria, Acute kidney injury, Thrombocytopenia, Proteinuria |
ORPHA:2134 |
| Mucopolysaccharidosis, Type Ivb |
|
Epiphyseal deformities of tubular bones, Cervical subluxation, Metaphyseal widening, Pointed prox... |
OMIM:253010 |
| Basal Cell Nevus Syndrome |
|
Irregular ossification of hand bones, Vertebral fusion, Hemivertebrae, Vertebral wedging, Bifid r... |
OMIM:109400 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Anemia, Abnormal hemoglobin |
ORPHA:3319 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Vertebral fusion, Achilles tendon contracture, Kyphosis, Hyperlordosis, Scoliosis |
OMIM:607155 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Genu varum, Metaphyseal irregularity, Fibular overgrowth, Narrow vertebral interpedicular distanc... |
ORPHA:93352 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Death in infancy, Triphalangeal thumb, Proximal placement of thumb, Abnormal thumb morphology, Sh... |
ORPHA:1120 |
| Erythroleukemia, Familial, Susceptibility To |
|
Erythroid hyperplasia, Leukemia, Anemia, Splenomegaly, Acute myeloid leukemia, Thrombocytopenia |
OMIM:133180 |
| Craniodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Abnormal rib morphology, Diaphyseal thickening |
ORPHA:1513 |
| Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness |
|
Genu varum, Irregular chondrocostal junctions, Metaphyseal dysplasia, Metaphyseal irregularity, S... |
OMIM:250420 |
| Microphthalmia, Syndromic 3 |
|
Butterfly vertebrae, Vertebral fusion, Hemivertebrae, Missing ribs, Vertebral hypoplasia, Supernu... |
OMIM:206900 |
| Fibrochondrogenesis |
|
Hypoplastic scapulae, Abnormal form of the vertebral bodies, Short ribs, Abnormality of the metap... |
ORPHA:2021 |
| Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Aplasia/Hypoplasia of fingers, Broad hallux phalanx, Toe syndactyly, Pectus carinatum, Abnormalit... |
ORPHA:3082 |
| Frontometaphyseal Dysplasia 2 |
|
Pectus excavatum, Hip contracture, Short metatarsal, Dislocated radial head, Congenital hip dislo... |
OMIM:617137 |
| Cole-Carpenter Syndrome |
|
Bowing of the long bones, Abnormal form of the vertebral bodies, Wormian bones, Abnormality of th... |
ORPHA:2050 |
| Hyperprolinemia, Type I |
|
Prolinuria, Hydroxyprolinuria, Hyperprolinemia, Hyperactivity, Ataxia, Hyperglycinuria |
OMIM:239500 |
| Grant Syndrome |
|
Abnormality of the glenoid fossa, Bowing of the long bones, Joint dislocation, Wormian bones, Abn... |
ORPHA:2097 |
| Caudal Regression Sequence |
|
Abnormal vertebral segmentation and fusion, Missing ribs, Abnormal iliac wing morphology, Aplasia... |
ORPHA:3027 |
| Achondrogenesis Type 1B |
|
Short thorax, Short foot, Narrow chest, Abnormal rib morphology, Short neck, Umbilical hernia, Ab... |
ORPHA:93298 |
| Sea-Blue Histiocyte Disease |
|
Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly |
OMIM:269600 |
| Spondylometaphyseal Dysplasia, Algerian Type |
|
Anterior rib cupping, Short greater sciatic notch, Metaphyseal dysplasia, Flared femoral metaphys... |
OMIM:184253 |
| Platelet Signal Processing Defect |
|
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platele... |
OMIM:173590 |
| Apert Syndrome |
|
Toe syndactyly, Cervical C5/C6 vertebrae fusion, Aplasia/Hypoplasia of the thumb, Finger syndacty... |
ORPHA:87 |
| Spondylocostal Dysostosis-Anal Atresia-Genitourinary Malformation Syndrome |
|
Vertebral fusion, Hemivertebrae, 11 pairs of ribs, Narrow chest, Rib fusion, Short neck, Scoliosis |
ORPHA:94095 |
| Greenberg Dysplasia |
|
Epiphyseal stippling, Neonatal death, Multiple prenatal fractures, Short ribs, Short diaphyses, P... |
OMIM:215140 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Neutropenia, Anemia, Splenomegaly, Increased circulating ferritin concentration, Hypertriglycerid... |
OMIM:603552 |
| Osteogenesis Imperfecta, Type Viii |
|
Tibial bowing, Radial bowing, Thin ribs, Wormian bones, Multiple prenatal fractures, Kyphosis, Os... |
OMIM:610915 |
| Aicardi-Goutieres Syndrome 3 |
|
Dystonia, Hepatosplenomegaly, Thrombocytopenia |
OMIM:610329 |
| Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Hyperactivity |
ORPHA:436151 |
| Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Horizontal ribs, Lateral clavicle hook, Postaxial polydactyly, Narrow chest, Bell-shaped thorax, ... |
OMIM:615633 |
| Apert Syndrome |
|
Cutaneous finger syndactyly, Cervical C5/C6 vertebrae fusion, Synostosis of carpal bones, Preaxia... |
OMIM:101200 |
| Bleeding Disorder, Platelet-Type, 15 |
|
Thrombocytopenia, Increased mean platelet volume, Platelet anisocytosis |
OMIM:615193 |
| Dysosteosclerosis |
|
Increased intervertebral space, Short ribs, Progressive bowing of long bones, Abnormal metaphysea... |
OMIM:224300 |
| Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Broad femoral neck, Abnormal diaphysis morphology, Thin bony cortex, Overtubulated long bones, Wo... |
ORPHA:85184 |
| Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Nephropathy, Thrombocytopeni... |
OMIM:254900 |
| Thyrocerebrorenal Syndrome |
|
Renal insufficiency, Thrombocytopenia, Nephritis, Nonprogressive cerebellar ataxia |
ORPHA:3327 |
| Mucopolysaccharidosis, Type Vi |
|
Anterior wedging of L1, Hypoplastic iliac wing, Metaphyseal widening, Flared iliac wing, Hypoplas... |
OMIM:253200 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Interphalangeal joint contracture of finger, Ankle flexion contracture, Hip contracture, Kyphosco... |
ORPHA:1145 |
| Mosaic Trisomy 14 |
|
Short neck, Narrow chest, Abnormal rib morphology, Camptodactyly of finger |
ORPHA:1703 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Dystonia, Renal tubular dysfunction, Neutropenia, Anemia, Hyperammonemia, Thrombocytopenia, Renal... |
ORPHA:289916 |
| Vertebral Hypersegmentation And Orofacial Anomalies |
|
Pectus excavatum, Joint hypermobility, Supernumerary ribs, Scapular winging, Six lumbar vertebrae |
OMIM:619122 |
| Macrothrombocytopenia and progressive sensorineural deafness |
|
Thrombocytopenia, Macrothrombocytopenia, Giant platelets |
OMIM:600208 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hypocholesterolemia, Anemia, Splenomegaly, Hypersplenism, Erlenmeyer flask deformity of the femur... |
OMIM:610539 |
| Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity |
OMIM:300271 |
| Achondrogenesis Type 1A |
|
Multiple rib fractures, Short thorax, Short neck, Short foot, Narrow chest, Short palm, Recurrent... |
ORPHA:93299 |
| Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Tibial bowing, Radial bowing, Lower limb undergrowth, Bowing of the long bones, Abnormal rib morp... |
ORPHA:3035 |
| Anemia, Sideroblastic, 5 |
|
Reduced hematocrit, Neutropenia, Hypochromic microcytic anemia, Anemia, Thrombocytopenia |
OMIM:619523 |
| Platelet Glycoprotein Iv Deficiency |
|
Thrombocytopenia, Giant platelets |
OMIM:608404 |
| Forsythe-Wakeling Syndrome |
|
Thrombocytopenia, Nephrotic syndrome |
OMIM:613606 |
| Mucopolysaccharidosis, Type Iiia |
|
Joint stiffness, Thickened ribs, Dense calvaria, Ovoid thoracolumbar vertebrae |
OMIM:252900 |
| Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Vertebral segmentation defect,... |
ORPHA:3109 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... |
OMIM:300835 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Neutropenia, Anemia, Short middle phalanx of the 4th finger, Overlapping fingers, Congenital thro... |
OMIM:616738 |
| Sebastian syndrome |
|
Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets, Leukocyte inclusion bodies |
OMIM:605249 |
| Cenani-Lenz Syndrome |
|
Toe syndactyly, Oligodactyly, Abnormal form of the vertebral bodies, Synostosis of carpal bones, ... |
ORPHA:3258 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Long clavicles, Thin ribs, Arachnodactyly, Fused cervical vertebrae, Cleft vertebral arch, Contra... |
ORPHA:83617 |
| Acute Myelomonocytic Leukemia |
|
Leukocytosis, Eosinophilia, Anemia, Thrombocytopenia |
ORPHA:517 |
| Bilateral Striopallidodentate Calcinosis |
|
Thrombocytopenia |
ORPHA:1980 |
| Otopalatodigital Syndrome Type 2 |
|
Tarsal synostosis, Fibular aplasia, Short hallux, Myelomeningocele, Abnormal vertebral segmentati... |
ORPHA:90652 |
| Microcephaly, Seizures, And Developmental Delay |
|
Hyperactivity, Ataxia |
OMIM:613402 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Duplication of the distal phalanx of hand, Broad toe, Hypoplastic sacrum, Delayed skeletal matura... |
OMIM:268310 |
| Campomelia, Cumming Type |
|
Death in infancy, Bowing of the long bones, Abnormal thorax morphology, Abnormal rib morphology, ... |
ORPHA:1318 |
| Pseudo-Von Willebrand Disease |
|
Intermittent thrombocytopenia |
OMIM:177820 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Neutropenia, Increased mean corpuscular volume, Anemia, Acute myeloid leukemia, Pancytopenia, Thr... |
OMIM:619041 |
| Vacterl Association With Hydrocephalus |
|
Abnormality of the vertebral column, Radial club hand, Abnormal vertebral morphology, Stillbirth,... |
OMIM:276950 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Chronic neutropenia, Dystonia, Anemia, Thrombocytopenia |
OMIM:619302 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Leukocytosis, Thrombocytosis, Neutropenia, Normocytic anemia, Megaloblastic erythroid hyperplasia... |
ORPHA:75564 |
| Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Pectus carinatum, Craniofacial hyperostosis, Abnormal rib morphology, Hyperlordosis, Limitation o... |
ORPHA:3068 |
| Cole-Carpenter Syndrome 2 |
|
Pectus excavatum, Thin ribs, Platyspondyly, Wormian bones, Kyphosis, Osteopenia, Narrow iliac win... |
OMIM:616294 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Macrocytic anemia, Leukopenia, Anemia, Hyperammonemia, Ataxia, Thrombocytopenia, Renal insufficie... |
ORPHA:27 |
| Mucopolysaccharidosis Type 6 |
|
Epiphyseal dysplasia, Abnormality of the metaphysis, Genu valgum, Ovoid vertebral bodies, Kyphosi... |
ORPHA:583 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Anemia, Splenomegaly, Increased circulating ferritin concentration, Hepatosplenomegaly, Hypertrig... |
OMIM:613101 |
| Opsismodysplasia |
|
Metaphyseal cupping, Anterior rib cupping, Posterior rib cupping, Short foot, Severe platyspondyl... |
OMIM:258480 |
| Amed Syndrome, Digenic |
|
Leukopenia, Anemia, Long thumb, Acute myeloid leukemia, Thrombocytopenia, Attention deficit hyper... |
OMIM:619151 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
| Intellectual Developmental Disorder, X-Linked 101 |
|
Hyperactivity, Clinodactyly |
OMIM:300928 |
| Refractory Anemia |
|
Macrocytic anemia, Normocytic anemia, Neutropenia, Normochromic anemia, Erythroid hypoplasia, Thr... |
ORPHA:98826 |
| Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Thrombocytopenia, Hematuria, Glomerulonephritis |
OMIM:314000 |
| Cernunnos-Xlf Deficiency |
|
B lymphocytopenia, Anemia, Lymphopenia, Thrombocytopenia, T lymphocytopenia |
ORPHA:169079 |
| Three M Syndrome 2 |
|
Thin ribs, Pectus carinatum, Short thorax, Prominent calcaneus, Short 5th finger, Slender long bo... |
OMIM:612921 |
| Hypertrichotic Osteochondrodysplasia, Cantu Type |
|
Short hallux, Broad hallux phalanx, Coxa valga, Osteoporosis, Platyspondyly, Cuboid-shaped verteb... |
ORPHA:1517 |
| Thrombotic Thrombocytopenic Purpura |
|
Microangiopathic hemolytic anemia, Hematuria, Decreased serum creatinine, Acute kidney injury, Re... |
ORPHA:54057 |
| Alkaptonuria |
|
Vertebral fusion, Intervertebral disc degeneration, Arthritis, Kyphosis, Limited hip movement, Li... |
OMIM:203500 |
| Lethal Kniest-Like Dysplasia |
|
Anterior rib cupping, Broad long bones, Coronal cleft vertebrae, Platyspondyly, Short ribs, Flare... |
ORPHA:2347 |
| Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Dystonia, Thrombocytopenia |
OMIM:619301 |
| Osteogenesis Imperfecta, Type X |
|
Thin ribs, Bowing of the long bones, Generalized joint laxity, Platyspondyly, Genu valgum, Osteop... |
OMIM:613848 |
| Gm1-Gangliosidosis, Type I |
|
Thickened ribs, Death in infancy, Beaking of vertebral bodies, Kyphosis, Hypoplastic vertebral bo... |
OMIM:230500 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Dystonia, Neutropenia, Anemia, Splenomegaly, Hyperammonemia, Thrombocytopenia, Renal insufficienc... |
ORPHA:79312 |
| Hemangioma-Thrombocytopenia Syndrome |
|
Hyperkalemia, Thrombocytopenia, Microangiopathic hemolytic anemia |
OMIM:141000 |
| Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Abnormality of pelvic girdle bone morphology, Abnormal rib morphology, Slender long bone |
ORPHA:1506 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Radial bowing, Ulnar bowing, Amegakaryocytic thrombocytopenia, Hip dislocation, Shallow acetabula... |
OMIM:605432 |
| Bone Marrow Failure Syndrome 2 |
|
Thrombocytopenia, Anemia, Leukopenia |
OMIM:615715 |
| X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Congenital bilateral hip dislocation, Hyperactivity |
ORPHA:85288 |
| Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Metaphyseal irregularity, Long fibula, Anterior wedging of T12, Limited elbow extension, Short lo... |
OMIM:300106 |
| Transcobalamin Deficiency |
|
Neutropenia, Methylmalonic aciduria, Acute kidney injury, Lymphopenia, Pancytopenia, Thrombocytop... |
ORPHA:859 |
| Holzgreve Syndrome |
|
Abnormality of the ulna, Abnormal rib morphology, Hand polydactyly, Joint stiffness, Abnormally o... |
ORPHA:2167 |
| Glycine Encephalopathy |
|
Hyperactivity, Hyperglycinuria, Hyperglycinemia, Lethargy |
OMIM:605899 |
| Fanconi Anemia, Complementation Group V |
|
Anemia, Thrombocytopenia, Elevated alpha-fetoprotein, Neutropenia |
OMIM:617243 |
| Acromesomelic Dysplasia 4 |
|
Genu varum, Short metatarsal, Broad toe, Metaphyseal irregularity, Short toe, Thoracic scoliosis,... |
OMIM:619636 |
| Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency |
|
Pectus excavatum, Hemivertebrae, Posterior rib fusion, Abnormal rib cage morphology, Preaxial han... |
OMIM:608406 |
| Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Triangular shaped distal phalanges of the hand, Abnormal diaphysis morphology, Generalized bone d... |
ORPHA:73230 |
| Rapidly Involuting Congenital Hemangioma |
|
Thrombocytopenia, Lipoatrophy |
ORPHA:141184 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hyperactivity, Dystonia, Ataxia, Hypertriglyceridemia |
OMIM:615924 |
| Mucolipidosis Iii Alpha/Beta |
|
Soft tissue swelling of interphalangeal joints, Irregular carpal bones, Craniosynostosis, Short r... |
OMIM:252600 |
| Hyperlysinemia, Type I |
|
Hyperactivity, Hyperlysinemia, Anemia |
OMIM:238700 |
| Gray Platelet Syndrome |
|
Thrombocytopenia, Abnormality of thrombocytes, Splenomegaly |
ORPHA:721 |
| Lymphangiectasia, Intestinal |
|
Stillbirth, Prominent floating ribs |
OMIM:152800 |
| Osteogenesis Imperfecta, Type Vii |
|
Decreased calvarial ossification, Pectus excavatum, Death in infancy, Bowing of the legs, Multipl... |
OMIM:610682 |
| Sillence Syndrome |
|
Short middle phalanx of finger, Bulbous tips of toes, Camptodactyly, Flat acetabular roof, Large ... |
ORPHA:3168 |
| Intellectual Developmental Disorder, Autosomal Recessive 74 |
|
Hyperactivity |
OMIM:617169 |
| X-Linked Hypophosphatemia |
|
Genu varum, Rickets, Reduced bone mineral density, Bone pain, Bowing of the legs, Generalized ost... |
ORPHA:89936 |
| Acro-Renal-Mandibular Syndrome |
|
Butterfly vertebrae, Rudimentary fibula, Thin ribs, Hemivertebrae, Pectus carinatum, Hypoplastic ... |
ORPHA:958 |
| Wolfram Syndrome, Mitochondrial Form |
|
Hydronephrosis, Neutropenia, Megaloblastic anemia, Sideroblastic anemia, Thrombocytopenia, Hydrou... |
OMIM:598500 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Cone-shaped epiphysis, Abnormal scapula morphology, Long fibula, Platyspondyly, Short metacarpal,... |
ORPHA:93317 |
| Giant platelet syndrome with thrombocytopenia |
|
Thrombocytopenia, Giant platelets |
OMIM:137560 |
| Mucopolysaccharidosis, Type Iiib |
|
Joint stiffness, Thickened ribs, Dense calvaria, Ovoid thoracolumbar vertebrae |
OMIM:252920 |
| Brachytelephalangic Chondrodysplasia Punctata |
|
Abnormality of the vertebral column, C1-C2 subluxation, Epiphyseal stippling, Short distal phalan... |
ORPHA:79345 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin |
ORPHA:231401 |
| Fechtner syndrome |
|
Neutrophil inclusion bodies, Hematuria, Nephritis, Leukocyte inclusion bodies, Stage 5 chronic ki... |
OMIM:153640 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute lymphoblastic leukemia, Neutropenia, Abnormal renal physiology, Anemia, Hyperbilirubinemia,... |
ORPHA:158057 |
| Familial Osteodysplasia, Anderson Type |
|
Bifid femur, Increased susceptibility to fractures, Abnormal form of the vertebral bodies, Missin... |
ORPHA:2769 |
| Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Dysmetria, Gait disturbance, Inability to walk, Hyperactivity |
OMIM:618090 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Microangiopathic hemolytic anemia, Anuria, Hematuria, Elevated circulating creatinine concentrati... |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Microangiopathic hemolytic anemia, Anuria, Hematuria, Elevated circulating creatinine concentrati... |
OMIM:612922 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Microangiopathic hemolytic anemia, Anuria, Hematuria, Elevated circulating creatinine concentrati... |
OMIM:612925 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Microangiopathic hemolytic anemia, Anuria, Hematuria, Elevated circulating creatinine concentrati... |
OMIM:612924 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Microangiopathic hemolytic anemia, Anuria, Hematuria, Elevated circulating creatinine concentrati... |
OMIM:612926 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Hyperactivity, Short foot, Hip dislocation, Small hand |
OMIM:300434 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Hyperhomocystinemia, Neutropenia, Methylmalonic acidemia, Methylmalonic aciduria, Homocystinuria,... |
OMIM:614857 |
| Koolen-De Vries Syndrome |
|
Pectus excavatum, Vertebral fusion, Arachnodactyly, Kyphosis, Hip dislocation, Vertebral segmenta... |
ORPHA:96169 |
| Craniometadiaphyseal Dysplasia |
|
Genu varum, Broad long bones, Cubitus valgus, Wormian bones, Osteopenia, Genu valgum, Flared meta... |
OMIM:269300 |
| Thyrocerebroretinal Syndrome |
|
Ataxia, Nephritis, Thrombocytopenia |
OMIM:274240 |
| Pyknoachondrogenesis |
|
Poorly ossified vertebrae, Horizontal ribs, Short iliac bones, Enlarged thorax, Aplastic pubic bo... |
ORPHA:3003 |
| Isovaleric Acidemia |
|
Leukopenia, Hyperglycinuria, Pancytopenia, Thrombocytopenia, Lethargy |
OMIM:243500 |
| Polycythemia Vera |
|
Thrombocytosis, Leukocytosis, Increased red blood cell mass, Splenomegaly, Increased hematocrit, ... |
OMIM:263300 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Neutropenia, Decreased platelet glycoprotein Ib, Ataxia, Proteinuria, Thrombocytopenia, Aminoacid... |
OMIM:603585 |
| Phosphoglycerate Dehydrogenase Deficiency |
|
Thrombocytopenia, Megaloblastic anemia, Adducted thumb |
OMIM:601815 |
| Wiskott-Aldrich Syndrome 2 |
|
Thrombocytopenia, Decreased proportion of CD8-positive T cells |
OMIM:614493 |
| Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617182 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Thoracic hypoplasia, Adducted thumb, Decreased fibular diameter, Multiple rib fractures, Platyspo... |
OMIM:616897 |
| Slc35A1-Cdg |
|
Neutropenia, Abnormal platelet granules, Giant platelets, Thrombocytopenia, Cellulitis |
ORPHA:238459 |
| Cleidocranial Dysplasia |
|
Abnormality of pelvic girdle bone morphology, Hypoplastic scapulae, Abnormal sacrum morphology, O... |
ORPHA:1452 |
| Mucopolysaccharidosis, Type Iiic |
|
Ovoid thoracolumbar vertebrae, Thickened ribs, Kyphoscoliosis, Dense calvaria, Joint stiffness |
OMIM:252930 |
| Poland Syndrome |
|
Abnormality of the ulna, Aplasia/Hypoplasia of the thumb, Abnormal sternum morphology, Asymmetry ... |
ORPHA:2911 |
| Fetal Parvovirus Syndrome |
|
Thrombocytopenia, Anemia |
ORPHA:295 |
| Pelger-Huet Anomaly |
|
Upper limb undergrowth, Short 3rd metacarpal, Short 5th metacarpal, Polydactyly, Neutropenia, Hyp... |
OMIM:169400 |
| Thrombocytopenia, Paris-Trousseau Type |
|
Radial deviation of finger, Thrombocytopenia, Clinodactyly |
OMIM:188025 |
| Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta |
|
Thin ribs, Delayed closure of the anterior fontanelle, Increased susceptibility to fractures, Asy... |
OMIM:604922 |
| Axial Mesodermal Dysplasia Spectrum |
|
Abnormality of the knee, Abnormal form of the vertebral bodies, Missing ribs, Abnormal rib morpho... |
ORPHA:1834 |
| Kniest-Like Dysplasia, Lethal |
|
Dumbbell-shaped long bone, Coronal cleft vertebrae, Metaphyseal irregularity, Platyspondyly, Shor... |
OMIM:245190 |
| Hyperphosphatasia With Mental Retardation Syndrome 6 |
|
2-3 toe syndactyly, Hip contracture, Elevated circulating creatine kinase concentration, Shorteni... |
OMIM:616809 |
| Autoinflammation With Infantile Enterocolitis |
|
Anemia, Splenomegaly, Reduced natural killer cell count, Increased circulating ferritin concentra... |
OMIM:616050 |
| Prune Belly Syndrome |
|
Pectus excavatum, Congenital hip dislocation, Abnormal rib morphology, Vertebral segmentation def... |
ORPHA:2970 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Hypoplastic ilia, Bowing of the legs, Ivory epiphyses, Abnormality of epiphysis morphology, Bowin... |
ORPHA:85167 |
| Kyphomelic Dysplasia |
|
Flat acetabular roof, Thoracic hypoplasia, Anterior rib cupping, Tibial bowing, Lateral clavicle ... |
OMIM:211350 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Tubulointerstitial nephritis, Methylmalonic acidemia, Methylmalonic aciduria, Leukopenia, Stage 5... |
OMIM:251000 |
| Chromosome 3Q29 Deletion Syndrome |
|
Tapered finger, Long fingers, Hyperactivity, Clinodactyly of the 5th finger, Gait ataxia |
OMIM:609425 |
| Holt-Oram Syndrome |
|
Pectus excavatum, Short clavicles, Triphalangeal thumb, Abnormal vertebral morphology, Phocomelia... |
OMIM:142900 |
| 8p23.1 deletion syndrome |
|
Hyperactivity, Congenital diaphragmatic hernia |
DECIPHER:39 |
| Fibular Hemimelia |
|
Abnormal lower limb bone morphology, Hypoplastic acetabulae, Finger syndactyly, Hip subluxation, ... |
ORPHA:93323 |
| Aminoacylase 1 Deficiency |
|
Hyperactivity |
OMIM:609924 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Thrombocytopenia, Clinodactyly, Brachydactyly |
OMIM:618048 |
| Folate Malabsorption, Hereditary |
|
Athetosis, Neutropenia, Leukopenia, Ataxia, Thrombocytopenia, Folate-responsive megaloblastic anemia |
OMIM:229050 |
| Bleeding Disorder, Platelet-Type, 20 |
|
Thrombocytopenia |
OMIM:616913 |
| Von Willebrand Disease, Type 2 |
|
Thrombocytopenia |
OMIM:613554 |
| Cartilage-Hair Hypoplasia |
|
Metaphyseal dysplasia, Abnormal form of the vertebral bodies, Short thorax, Limited elbow extensi... |
ORPHA:175 |
| Sclerosteosis 1 |
|
Abnormality of pelvic girdle bone morphology, 2-3 finger syndactyly, Sclerotic scapulae, Deviatio... |
OMIM:269500 |
| Bresek Syndrome |
|
Postaxial hand polydactyly, Neonatal death, Scoliosis, Hemivertebrae |
ORPHA:85284 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Metaphyseal irregularity, Long fibula, Short ribs, Cupped ribs, 11 pairs of ribs, Iliac crest ser... |
OMIM:250220 |
| Cerebrofaciothoracic Dysplasia |
|
Bifid ribs, Hemivertebrae, Sprengel anomaly, Narrow chest, Rib fusion, Short neck, Vertebral segm... |
ORPHA:1394 |
| Faciodigitogenital Syndrome, Autosomal Recessive |
|
Metatarsus adductus, Pectus excavatum, Vertebral fusion, Hyperextensible hand joints, Down-slopin... |
OMIM:227330 |
| Cartilage-Hair Hypoplasia |
|
Flaring of lower rib cage, Femoral bowing, Metaphyseal dysplasia, Metaphyseal cupping, Metaphysea... |
OMIM:250250 |
| Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets, Leukocyte inclusion bodies |
OMIM:155100 |
| Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
C1-C2 subluxation, Epiphyseal stippling, Long fibula, Short ribs, Atlantoaxial instability, Hip s... |
OMIM:271665 |
| 10Q22.3Q23.3 Microduplication Syndrome |
|
Abnormal clavicle morphology, Abnormal rib morphology |
ORPHA:276422 |
| Aicardi-Goutieres Syndrome 4 |
|
Dystonia, Splenomegaly, Hepatosplenomegaly, Pancytopenia, Thrombocytopenia |
OMIM:610333 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Pancytopenia, Ataxia, Megaloblastic anemia, Thrombocytopenia |
OMIM:613839 |
| Congenital Disorder Of Glycosylation, Type Ix |
|
Thrombocytopenia, Micropenis |
OMIM:615597 |
| Morm Syndrome |
|
Hyperactivity, Micropenis |
ORPHA:75858 |
| Lymphoproliferative Syndrome 1 |
|
Leukopenia, Anemia, Splenomegaly, Increased circulating ferritin concentration, Autoimmune thromb... |
OMIM:613011 |
| Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Bifid sternum, Supraumbilical raphe |
OMIM:140850 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Abnormality of epiphysis morphology, Brachydactyly, Abnormal rib morphology, Delayed skeletal mat... |
ORPHA:2643 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Hallux valgus, Epiphyseal dysplasia, Pathologic fracture, Cupped ribs, 11 pairs of ribs, Hip subl... |
OMIM:271640 |
| Diffuse Neonatal Hemangiomatosis |
|
Renal insufficiency, Thrombocytopenia, Hypercalcemia, Anemia |
ORPHA:2123 |
| Aicardi-Goutieres Syndrome 7 |
|
Dystonia, Thrombocytopenia, Nephrotic syndrome, Splenomegaly |
OMIM:615846 |
| Mucopolysaccharidosis, Type Iiid |
|
Ovoid thoracolumbar vertebrae, Thickened ribs, Flexion contracture, Joint stiffness, Short neck |
OMIM:252940 |
| Chronic Myeloid Leukemia |
|
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Sple... |
ORPHA:521 |
| Mannosidosis, Beta A, Lysosomal |
|
Hyperactivity, Increased urinary disaccharide excretion |
OMIM:248510 |
| Stuve-Wiedemann Syndrome 1 |
|
Broad ischia, Metaphyseal rarefaction, Thickened cortex of long bones, Pathologic fracture, Femor... |
OMIM:601559 |
| Mosaic Trisomy 8 |
|
Patellar aplasia, Narrow pelvis bone, Arthrogryposis multiplex congenita, Clinodactyly of the 5th... |
ORPHA:96061 |
| Methylmalonic Aciduria, Cblb Type |
|
Ketonuria, Neutropenia, Methylmalonic acidemia, Methylmalonic aciduria, Anemia, Hyperglycinemia, ... |
OMIM:251110 |
| Aicardi Syndrome |
|
Butterfly vertebrae, Bifid ribs, Missing ribs, Small hand, Hip dysplasia, Supernumerary ribs, Blo... |
ORPHA:50 |
| Juvenile Huntington Disease |
|
Dystonia, Bradykinesia, Hyperactivity, Progressive cerebellar ataxia, Ataxia, Broad-based gait, G... |
ORPHA:248111 |
| Preeclampsia |
|
Elevated circulating creatinine concentration, Acute kidney injury, Chronic kidney disease, Throm... |
ORPHA:275555 |
| Fibrous Dysplasia Of Bone |
|
Abnormality of the ulna, Rickets, Fibrous dysplasia of the bones, Abnormal bone structure, Patchy... |
ORPHA:249 |
| Sengers Syndrome |
|
Thrombocytopenia, 3-Methylglutaconic aciduria |
OMIM:212350 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Hypoproteinemia, Decreased HDL cholesterol concentration, Leukopenia, Increased LDL... |
OMIM:267700 |
| Acro-Renal-Ocular Syndrome |
|
Short hallux, Broad hallux phalanx, Toe syndactyly, Triphalangeal thumb, Radial club hand, Verteb... |
ORPHA:959 |
| Moyamoya Disease With Early-Onset Achalasia |
|
Thrombocytopenia, Abnormal platelet aggregation |
ORPHA:401945 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
