Familial Apolipoprotein Gene Cluster Deletion Syndrome |
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Hypocholesterolemia, Decreased circulating apolipoprotein A-I concentration, Decreased HDL choles... |
OMIM:620058 |
Cramps, Familial Adolescent |
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Elevated circulating creatine kinase concentration |
OMIM:218050 |
Muscle Cramps, Familial |
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Elevated circulating creatine kinase concentration |
OMIM:158400 |
Pentosuria |
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Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level |
ORPHA:2843 |
Hypertriglyceridemia 2 |
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Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:619324 |
Dwarfism With Tall Vertebrae |
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Increased vertebral height, Coxa vara |
OMIM:126950 |
Osteomesopyknosis |
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Kyphosis, Increased bone mineral density, Abnormal cortical bone morphology, Scoliosis, Sclerotic... |
ORPHA:2777 |
Xanthomatosis, Susceptibility To |
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Hypercholesterolemia |
OMIM:602247 |
Sacral Agenesis With Vertebral Anomalies |
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Abnormal vertebral morphology, Absence of the sacrum |
OMIM:615709 |
Spondylometaphyseal Dysplasia, Corner Fracture Type |
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Genu varum, Metaphyseal irregularity, Coxa vara, Short femoral neck, Hypoplasia of the odontoid p... |
OMIM:184255 |
Eiken Syndrome |
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Short phalanx of finger, Thin bony cortex, Short toe, Metaphyseal irregularity, Abnormal bone oss... |
ORPHA:79106 |
Ghosal Hematodiaphyseal Dysplasia |
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Craniofacial hyperostosis, Abnormal cortical bone morphology, Abnormal pelvic girdle bone morphol... |
ORPHA:1802 |
Epiphyseal Dysplasia, Multiple, 7 |
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Genu varum, Advanced ossification of carpal bones, Short femoral neck, Vertebral wedging, Flat ac... |
OMIM:617719 |
Metaphyseal Chondrodysplasia, Schmid Type |
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Short tubular bones of the hand, Metaphyseal cupping of proximal phalanges, Lumbar hyperlordosis,... |
ORPHA:174 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
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Thin bony cortex, Generalized bone demineralization, Genu valgum, Metaphyseal irregularity, Genu ... |
OMIM:600785 |
Cervical Vertebral Dysplasia |
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Anterior atlanto-occipital dislocation, Cervical vertebral facet hypoplasia, Cervical vertebral d... |
OMIM:118005 |
Metaphyseal Chondrodysplasia, Schmid Type |
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Metaphyseal cupping of proximal phalanges, Metaphyseal chondrodysplasia, Irregular acetabular roo... |
OMIM:156500 |
Chylomicron Retention Disease |
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Decreased LDL cholesterol concentration, Steatorrhea, Hypotriglyceridemia, Hypocholesterolemia, H... |
OMIM:246700 |
Thyroid Hormone Metabolism, Abnormal, 2 |
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Hypercholesterolemia |
OMIM:619855 |
Sitosterolemia 2 |
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Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
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Genu varum, Metaphyseal irregularity, Pear-shaped vertebrae, Short lower limbs, Femoral bowing, F... |
ORPHA:93356 |
Isolated Asymptomatic Elevation Of Creatine Phosphokinase |
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Elevated circulating creatine kinase concentration, Elevated creatine kinase after exercise |
ORPHA:206599 |
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia |
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Broad femoral neck, Genu valgum, Coxa vara, Flat distal femoral epiphysis, Short femoral neck, Ep... |
OMIM:609324 |
Spondyloepimetaphyseal Dysplasia With Hypotrichosis |
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Genu varum, Pear-shaped vertebrae, Coxa vara, Short femoral neck, Flared iliac wing, Increased an... |
OMIM:183849 |
Weismann-Netter Syndrome |
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Kyphosis, Abnormality of the humerus, Tibial bowing, Abnormal cortical bone morphology, Femoral b... |
ORPHA:3344 |
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation |
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Anterior beaking of lumbar vertebrae, Coxa valga, Short greater sciatic notch, Platyspondyly |
OMIM:271620 |
Weismann-Netter Syndrome |
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Anterior tibial bowing, Horizontal sacrum, Kyphosis, Lateral femoral bowing, Scoliosis, Fibular b... |
OMIM:112350 |
Cholesterol-Ester Transfer Protein Deficiency |
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Increased HDL cholesterol concentration, Hyperlipoproteinemia, Hyperlipidemia, Hypercholesterolem... |
ORPHA:79506 |
Symbrachydactyly Of Hands And Feet |
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Aplasia/Hypoplasia of the thumb, Vertebral segmentation defect, Abnormality of the humerus, Abnor... |
ORPHA:1570 |
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome |
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Genu varum, Abnormal bone ossification, Epiphyseal stippling, Coarse metaphyseal trabecularizatio... |
ORPHA:1952 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type |
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Genu varum, Intervertebral space narrowing, Irregular vertebral endplates, Genu valgum, Broad fem... |
OMIM:609223 |
Epiphyseal Dysplasia, Multiple, 6 |
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Irregular vertebral endplates, Flat distal femoral epiphysis, Flat capital femoral epiphysis, Irr... |
OMIM:614135 |
Autosomal Dominant Brachyolmia |
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Abnormal metaphysis morphology, Kyphoscoliosis, Increased vertebral height, Platyspondyly |
ORPHA:93304 |
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
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Short tibia, Absent ossification of thoracic vertebral bodies, Hypoplasia of the radius, Lytic de... |
OMIM:601376 |
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates |
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Elevated circulating creatine kinase concentration |
ORPHA:88635 |
Spondyloepiphyseal Dysplasia, Maroteaux Type |
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Genu valgum, Platyspondyly |
OMIM:184095 |
Hyperlipidemia, Familial Combined, 3 |
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Increased VLDL cholesterol concentration, Elevated circulating apolipoprotein B concentration, In... |
OMIM:144250 |
Spondylocostal Dysostosis 6, Autosomal Recessive |
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Cervical kyphosis, Butterfly vertebrae, Spinal canal stenosis, Scoliosis, Hemivertebrae |
OMIM:616566 |
Acropectorovertebral Dysplasia |
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Bifid distal phalanx of the thumb, Finger syndactyly, Capitate-hamate fusion, Toe syndactyly, Syn... |
OMIM:102510 |
Hypercholesterolemia, Familial, 4 |
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Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603813 |
Acromesomelic Dysplasia, Maroteaux Type |
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Hyperlordosis, Kyphosis, Vertebral wedging, Ovoid vertebral bodies, Scoliosis, Brachydactyly, Bea... |
ORPHA:40 |
Acrodysplasia Scoliosis |
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Spina bifida occulta, Vertebral segmentation defect, Scoliosis, Brachydactyly |
ORPHA:2956 |
Primary Basilar Invagination |
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Short neck, Abnormality of the cervical spine, Abnormal vertebral morphology |
ORPHA:2285 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
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Kyphosis, Vertebral segmentation defect, Hypoplasia of the odontoid process, Supernumerary verteb... |
OMIM:609813 |
Endosteal Hyperostosis, Worth Type |
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Craniofacial hyperostosis, Abnormal cortical bone morphology, Generalized osteosclerosis, Clavicu... |
ORPHA:2790 |
Congenital Bowing Of Long Bones-Short Stature-Dolichomacrocephaly-Ocular Hypertelorism Syndrome |
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Hyperlordosis, Bowing of the long bones |
ORPHA:2292 |
Hyperlipoproteinemia, Type Ii, And Deafness |
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Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:144300 |
Pseudoachondroplasia |
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Short phalanx of finger, Irregular carpal bones, Irregular acetabular roof, Beaking of vertebral ... |
ORPHA:750 |
Angioosteohypotrophic Syndrome |
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Thin bony cortex, Upper limb undergrowth, Abnormal trabecular bone morphology, Hypoplasia of the ... |
ORPHA:75508 |
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
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Short 5th metacarpal, Short middle phalanx of the 5th finger, Osteoporosis of vertebrae, Short mi... |
OMIM:156510 |
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
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Hypocholesterolemia, Decreased LDL cholesterol concentration, Decreased HDL cholesterol concentra... |
OMIM:616834 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
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Irregular sclerotic endplates, Genu varum, Metaphyseal cupping, Pear-shaped vertebrae, Coxa vara,... |
OMIM:602111 |
Spondyloepiphyseal Dysplasia Tarda, Kohn Type |
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Bilateral coxa valga, Abnormal vertebral morphology, Abnormal ilium morphology, Platyspondyly |
ORPHA:163665 |
Osteoarthritis With Mild Chondrodysplasia |
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Irregular vertebral endplates, Heberden's node, Platyspondyly, Beaking of vertebral bodies, Schmo... |
OMIM:604864 |
Osteosclerosis With Ichthyosis And Fractures |
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Increased bone mineral density, Tibial bowing, Cortical thickening of long bone diaphyses, Femora... |
OMIM:166740 |
Endosteal Hyperostosis, Autosomal Dominant |
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Metacarpal diaphyseal endosteal sclerosis, Abnormal pelvic girdle bone morphology, Thickened cort... |
OMIM:144750 |
Spinal Dysplasia, Anhalt Type |
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Thoracolumbar scoliosis, Narrow anterio-posterior vertebral body diameter, Coxa vara, Spinal dysp... |
OMIM:601344 |
Solitary Bone Cyst |
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Back pain, Proximal femoral metaphyseal abnormality, Abnormality of the medullary cavity of the l... |
ORPHA:83468 |
Rhizomelic Dysplasia, Ain-Naz Type |
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Short femoral neck, Wide distal femoral metaphysis, Hip dysplasia, Short femur, Hypoplasia of the... |
OMIM:619598 |
Hypobetalipoproteinemia, Familial, 1 |
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Decreased LDL cholesterol concentration, Steatorrhea, Decreased HDL cholesterol concentration, Hy... |
OMIM:615558 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
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Metaphyseal irregularity, Metaphyseal cupping, Severe platyspondyly, Coxa vara, Short metacarpal,... |
OMIM:608940 |
Glycogen Storage Disease Vi |
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Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:232700 |
Hypochondroplasia |
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Hyperlordosis, Short toe, Genu varum, Spinal canal stenosis, Abnormal pelvic girdle bone morpholo... |
ORPHA:429 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
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Dysplastic iliac wing, Hypoplastic pubic bone, Short long bone, Flat acetabular roof, Irregular e... |
OMIM:608728 |
Acrocapitofemoral Dysplasia |
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Short tibia, Flared iliac wing, Short proximal phalanx of finger, Short femur, Ovoid vertebral bo... |
OMIM:607778 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
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Hypocholesterolemia |
OMIM:610539 |
Spondylometaphyseal Dysplasia, Pagnamenta Type |
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Thin bony cortex, Short 4th metacarpal, Short 5th metacarpal, Thoracic kyphosis, Femoral bowing, ... |
OMIM:619638 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
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Hypoplastic iliac wing, Irregular vertebral endplates, Hypoplastic pubic bone, Short foot, Enlarg... |
OMIM:609616 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
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Thin bony cortex, Broad tibial metaphyses, Increased bone mineral density, Broad femoral head, Fi... |
ORPHA:85188 |
Rhizomelic Chondrodysplasia Punctata, Type 3 |
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Epiphyseal stippling, Short humerus, Short femur |
OMIM:600121 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
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Short tubular bones of the hand, Flared iliac wing, Absent epiphyses of the phalanges of the hand... |
ORPHA:93314 |
Hypoplastic Femurs And Pelvis |
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Hypoplastic pelvis, Short femur |
OMIM:619545 |
Congenital Disorder Of Glycosylation, Type Iip |
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Decreased circulating ceruloplasmin concentration, Increased LDL cholesterol concentration, Hyper... |
OMIM:616829 |
Osteogenesis Imperfecta, Type Vi |
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Protrusio acetabuli, Biconcave vertebral bodies, Coxa vara, Beaking of vertebral bodies, Vertebra... |
OMIM:613982 |
Sillence Syndrome |
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Large iliac wing, Camptodactyly, Metatarsus adductus, Abnormal distal phalanx morphology of finge... |
ORPHA:3168 |
Acromesomelic Dysplasia 2C |
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Short tibia, Hypoplasia of the radius, Radial bowing, Cuboidal metacarpal, Hip dislocation, Hypop... |
OMIM:201250 |
Fibrodysplasia Ossificans Progressiva |
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Ectopic ossification in ligament tissue, Hallux valgus, Spinal rigidity, Clinodactyly of the 5th ... |
ORPHA:337 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
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Hyperlordosis, Generalized bone demineralization, Metaphyseal irregularity, Genu varum, Fibular o... |
ORPHA:93352 |
Diarrhea 7, Protein-Losing Enteropathy Type |
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Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:615863 |
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
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Sacral dimple, Tarsal synostosis, Abnormal form of the vertebral bodies, Posterior fusion of lumb... |
ORPHA:2064 |
Osteogenesis Imperfecta, Type Xiv |
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Osteopenia, Scoliosis, Femoral bowing |
OMIM:615066 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
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Thin bony cortex, Metaphyseal irregularity, Bulging epiphyses, Tibial bowing, Sparse bone trabecu... |
OMIM:600081 |
Smith-Mccort Dysplasia 1 |
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Short phalanx of finger, Genu varum, Genu valgum, Delayed femoral head ossification, Hypoplastic ... |
OMIM:607326 |
Hypophosphatemic Rickets, X-Linked Recessive |
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Thin bony cortex, Metaphyseal irregularity, Bulging epiphyses, Osteomalacia, Tibial bowing, Spars... |
OMIM:300554 |
Calvarial Doughnut Lesions With Bone Fragility |
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Femoral bowing, Osteopenia, Scoliosis, Platyspondyly, Osteoporosis |
OMIM:126550 |
Hepatic Lipase Deficiency |
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Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
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Toe syndactyly, Aplasia/hypoplasia of the femur, Postaxial hand polydactyly, Hypoplastic iliac wi... |
OMIM:228930 |
Erythrocyte Lactate Transporter Defect |
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Elevated circulating creatine kinase concentration |
OMIM:245340 |
Tibial Aplasia-Ectrodactyly Syndrome |
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Aplasia/Hypoplasia of the tibia, Preaxial hand polydactyly, Finger syndactyly, Patellar aplasia, ... |
ORPHA:3329 |
Hypercholesterolemia, Familial, 3 |
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Abnormal LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia |
OMIM:603776 |
Peroxisome Biogenesis Disorder 3B |
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Hypocholesterolemia, Steatorrhea, Elevated circulating phytanic acid concentration |
OMIM:266510 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
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Thin bony cortex, Metaphyseal irregularity, Bulging epiphyses, Tibial bowing, Sparse bone trabecu... |
OMIM:241530 |
Hypophosphatemic Rickets, X-Linked Dominant |
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Shortening of the talar neck, Trapezoidal distal femoral condyles, Genu valgum, Metaphyseal irreg... |
OMIM:307800 |
Paget Disease Of Bone 2, Early-Onset |
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Short femur, Femoral bowing, Osteosclerosis of the ulna, Osteolysis, Fractures of the long bones,... |
OMIM:602080 |
Dyggve-Melchior-Clausen Disease |
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Camptodactyly, Short neck, Flat glenoid fossa, Beaking of vertebral bodies, Narrow greater sciati... |
OMIM:223800 |
Autosomal Recessive Hypophosphatemic Rickets |
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Genu varum, Coxa vara, Rickets of the lower limbs, Abnormal trabecular bone morphology, Increased... |
ORPHA:289176 |
Squalene Synthase Deficiency |
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Hypocholesterolemia, Increased circulating farnesol concentration, Decreased LDL cholesterol conc... |
OMIM:618156 |
Hypercholesterolemia, Familial, 2 |
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Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia |
OMIM:144010 |
Analbuminemia |
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Increased LDL cholesterol concentration, Hypoalbuminemia, Elevated circulating transferrin concen... |
OMIM:616000 |
Bile Acid Synthesis Defect, Congenital, 1 |
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Hypocholesterolemia, Steatorrhea, Conjugated hyperbilirubinemia |
OMIM:607765 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
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Thin bony cortex, Metaphyseal irregularity, Bulging epiphyses, Tibial bowing, Sparse bone trabecu... |
OMIM:264700 |
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
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Hypoplastic pubic bone, Short long bone, Delayed ossification of carpal bones, Abnormal vertebral... |
ORPHA:93346 |
Dent Disease 1 |
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Thin bony cortex, Metaphyseal irregularity, Bulging epiphyses, Osteomalacia, Tibial bowing, Spars... |
OMIM:300009 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
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Vertebral hypoplasia, Corner fracture of metaphysis, Short neck, Ovoid vertebral bodies, Reduced ... |
ORPHA:93315 |
Acromesomelic Dysplasia 2A |
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Short tibia, Short phalanx of finger, Aplasia/Hypoplasia involving the metacarpal bones, Hypoplas... |
OMIM:200700 |
Vitamin D-Dependent Rickets, Type 2A |
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Thin bony cortex, Metaphyseal irregularity, Bulging epiphyses, Tibial bowing, Sparse bone trabecu... |
OMIM:277440 |
Chylomicron Retention Disease |
|
Hypocholesterolemia, Hypertriglyceridemia, Steatorrhea |
ORPHA:71 |
Potocki-Lupski Syndrome |
|
Hypocholesterolemia |
OMIM:610883 |
Osteogenesis Imperfecta, Type Viii |
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Kyphosis, Femoral retroversion, Short metacarpal, Radial bowing, Slender long bone, Femoral bowin... |
OMIM:610915 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
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Flattened femoral head, Narrow pelvis bone, Fibular metaphyseal irregularity, Overlapping toe, Di... |
ORPHA:457395 |
Anauxetic Dysplasia 3 |
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Hip subluxation, Genu valgum, Metaphyseal cupping, Short metacarpal, Broad middle phalanx of fing... |
OMIM:618853 |
Apolipoprotein C-Ii Deficiency |
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Hypercholesterolemia, Increased circulating chylomicron concentration, Hypertriglyceridemia, Decr... |
OMIM:207750 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
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Short 4th metacarpal, Camptodactyly, Broad hallux, Ovoid vertebral bodies, Thoracic platyspondyly... |
OMIM:618019 |
Otopalatodigital Syndrome, Type I |
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Short 4th metacarpal, Coxa valga, Abnormality of the fifth metatarsal bone, Toe syndactyly, Hip d... |
OMIM:311300 |
Holt-Oram Syndrome |
|
Triphalangeal thumb, Absent thumb, Abnormal carpal morphology, Hypoplasia of the radius, Short di... |
OMIM:142900 |
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
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Thoracolumbar scoliosis, Short femoral neck, Short metacarpal, Narrow pelvis bone, Carpal bone hy... |
OMIM:616723 |
Osteogenesis Imperfecta, Type Xviii |
|
Thin bony cortex, Biconcave vertebral bodies, Femoral bowing, Generalized osteoporosis, Vertebral... |
OMIM:617952 |
Florid Cemento-Osseous Dysplasia |
|
Abnormal trabecular bone morphology, Multiple bony cystic lesions, Abnormal bone structure |
ORPHA:83451 |
Hypocalcemic Vitamin D-Dependent Rickets |
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Thin bony cortex, Genu varum, Osteomalacia, Tibial bowing, Sparse bone trabeculae, Femoral bowing... |
ORPHA:289157 |
Geroderma Osteodysplasticum |
|
Biconcave vertebral bodies, Irregular vertebral endplates, Hyperextensibility of the finger joint... |
OMIM:231070 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Hypocholesterolemia |
OMIM:618810 |
Maternal Uniparental Disomy Of Chromosome 4 |
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Hypocholesterolemia, Decreased LDL cholesterol concentration, Abetalipoproteinemia, Elevated circ... |
ORPHA:96180 |
Bent Bone Dysplasia Syndrome 2 |
|
Short tibia, Short sternum, Hypoplastic iliac wing, Hypoplastic acetabulae, Short 1st metacarpal,... |
OMIM:620076 |
Osteogenesis Imperfecta, Type Xiii |
|
Arachnodactyly, Wide pubic symphysis, Wide distal femoral metaphysis, Angulated humerus, Increase... |
OMIM:614856 |
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome |
|
Foot polydactyly, Vertebral segmentation defect, Phocomelia, Split hand |
ORPHA:3004 |
Achondroplasia |
|
Genu varum, Spinal stenosis with reduced interpedicular distance, Severe platyspondyly, Short fem... |
OMIM:100800 |
Thanatophoric Dysplasia, Type I |
|
Metaphyseal irregularity, Severe platyspondyly, Hypoplastic ilia, Short long bone, Femoral bowing... |
OMIM:187600 |
Bruck Syndrome 2 |
|
Femoral bowing, Osteopenia, Platyspondyly |
OMIM:609220 |
Osteogenesis Imperfecta, Type Iv |
|
Biconcave flattened vertebrae, Kyphosis, Femoral bowing present at birth, straightening with time... |
OMIM:166220 |
Kyphomelic Dysplasia |
|
Short metacarpal, Radial bowing, Flat acetabular roof, Ulnar bowing, Short femur, Femoral bowing,... |
OMIM:211350 |
Abetalipoproteinemia |
|
Decreased LDL cholesterol concentration, Hyperbilirubinemia, Abnormal circulating apolipoprotein ... |
ORPHA:14 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Dumbbell-shaped long bone, Short femur, Femoral bowing, Brachydactyly, Hypoplastic scapulae, Meta... |
ORPHA:440354 |
Rothmund-Thomson Syndrome Type 1 |
|
Short phalanx of finger, Genu varum, Abnormality of the radial head, Metaphyseal sclerosis, Patel... |
ORPHA:221008 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Cone-shaped epiphysis, Short long bone, Absent tibia, Short digit, Hypoplasia of the ulna, Femora... |
OMIM:613091 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Hypocholesterolemia, Steatorrhea, Hypoalbuminemia |
OMIM:212065 |
Rothmund-Thomson Syndrome Type 2 |
|
Short phalanx of finger, Genu varum, Abnormality of the radial head, Metaphyseal sclerosis, Patel... |
ORPHA:221016 |
Secondary Intestinal Lymphangiectasia |
|
Decreased prealbumin level, Secondary hyperaldosteronism, Reduced circulating transferrin concent... |
ORPHA:90363 |
Campomelic Dysplasia |
|
Kyphosis, Short long bone, Hypoplastic inferior ilia, Hip dislocation, Poorly ossified cervical v... |
ORPHA:140 |
Tangier Disease |
|
Hypocholesterolemia, Hypertriglyceridemia |
ORPHA:31150 |
Dent Disease |
|
Thin bony cortex, Metaphyseal irregularity, Bulging epiphyses, Osteomalacia, Enlarged epiphyses, ... |
ORPHA:1652 |
Alg12-Cdg |
|
Hypocholesterolemia, Hypoalbuminemia, Hyponatremia |
ORPHA:79324 |
Rothmund-Thomson Syndrome |
|
Broad ulna, Abnormal trabecular bone morphology, Metaphyseal striations, Hypoplasia of the ulna, ... |
ORPHA:2909 |
Kaufman Oculocerebrofacial Syndrome |
|
Hypocholesterolemia |
OMIM:244450 |
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome |
|
Tibial bowing, Femoral bowing, Metaphyseal chondrodysplasia, Fibular bowing |
ORPHA:85165 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Humeroradial synostosis, Aplasia/hypoplasia of the femur, Hip dislocation, Phocomelia, Short neck... |
OMIM:276820 |
Osteopetrosis, Autosomal Recessive 7 |
|
Abnormal trabecular bone morphology, Femur fracture, Osteopetrosis |
OMIM:612301 |
Dubowitz Syndrome |
|
Hypocholesterolemia |
OMIM:223370 |
Osteogenesis Imperfecta, Type I |
|
Femoral bowing, Osteopenia, Biconcave flattened vertebrae |
OMIM:166200 |
Otopalatodigital Syndrome, Type Ii |
|
Toe syndactyly, Broad hallux, Short hallux, Short neck, Postaxial hand polydactyly, Sclerosis of ... |
OMIM:304120 |
Smith-Lemli-Opitz Syndrome |
|
Hypocholesterolemia, Elevated 7-dehydrocholesterol, Hypoalbuminemia |
OMIM:270400 |