Female Infertility Due To Oocyte Meiotic Arrest |
|
Oocyte arrest at metaphase I, Female infertility, Abnormal meiosis |
ORPHA:488191 |
Oocyte Maturation Defect 4 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:617743 |
Oocyte Maturation Defect 2 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:616780 |
Oocyte Maturation Defect 9 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:619011 |
Hemoglobin D Disease |
|
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... |
ORPHA:90039 |
Premature Ovarian Failure 19 |
|
Irregular menstruation, Secondary amenorrhea, Female infertility, Premature ovarian insufficiency |
OMIM:619245 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Abnormal hemoglobin, Short neck, Scoliosis, Abnormal form of the vertebral bodies, Anemia, Thromb... |
ORPHA:3319 |
Oocyte Maturation Defect 8 |
|
Female infertility |
OMIM:619009 |
Oocyte Maturation Defect 12 |
|
Female infertility |
OMIM:619697 |
Congenital Bowing Of Long Bones |
|
Hyperlordosis |
ORPHA:2292 |
Familial Scheuermann Disease |
|
Kyphosis, Abnormal form of the vertebral bodies |
ORPHA:3135 |
Sacral Agenesis With Vertebral Anomalies |
|
Abnormal vertebral morphology, Absence of the sacrum |
OMIM:615709 |
Acromesomelic Dysplasia, Maroteaux Type |
|
Kyphosis, Beaking of vertebral bodies, Scoliosis, Abnormal form of the vertebral bodies, Hyperlor... |
ORPHA:40 |
Oocyte Maturation Defect 11 |
|
Female infertility |
OMIM:619643 |
Oocyte Maturation Defect 7 |
|
Female infertility |
OMIM:618550 |
Preimplantation Embryonic Lethality 1 |
|
Female infertility |
OMIM:616814 |
Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
Oocyte Maturation Defect 6 |
|
Female infertility |
OMIM:618353 |
Oocyte Maturation Defect 1 |
|
Female infertility |
OMIM:615774 |
Hydatidiform Mole, Recurrent, 4 |
|
Female infertility |
OMIM:618432 |
Multicore Myopathy With Mental Retardation, Short Stature, And Hypogonadotropic Hypogonadism |
|
Hypogonadotropic hypogonadism, Lumbar hyperlordosis |
OMIM:253320 |
Hemoglobin-Delta locus |
|
Anemia, Imbalanced hemoglobin synthesis |
OMIM:142000 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type |
|
Irregular vertebral endplates, Lumbar hyperlordosis, Platyspondyly, Scoliosis, Thoracic kyphosis,... |
OMIM:609223 |
Oocyte Maturation Defect 10 |
|
Female infertility |
OMIM:619176 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
Dystonia With Ringbinden |
|
Hyperlordosis |
OMIM:224550 |
Myosclerosis, Autosomal Recessive |
|
Thoracolumbar scoliosis, Lumbar hyperlordosis, Spinal rigidity |
OMIM:255600 |
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
|
Lumbar hyperlordosis, Atlantoaxial dislocation, Os odontoideum, Spondylolysis, Atlantoaxial insta... |
OMIM:600561 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Kyphosis, Spinal rigidity, Short neck, Scoliosis, Hyperlordosis |
OMIM:300718 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Familial Anetoderma |
|
Lumbar hyperlordosis |
ORPHA:228277 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic anemia, Decre... |
OMIM:603902 |
Hemoglobin H Disease |
|
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly |
OMIM:613978 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3 |
|
Hyperlordosis |
OMIM:607088 |
Fraxf Syndrome |
|
Folate-dependent fragile site at Xq28 |
ORPHA:100974 |
Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
Spondylocostal Dysostosis 6, Autosomal Recessive |
|
Spinal canal stenosis, Butterfly vertebrae, Hemivertebrae, Scoliosis, Cervical kyphosis |
OMIM:616566 |
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
|
Scoliosis, Hyperlordosis |
OMIM:617760 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
Absence Deformity Of Leg-Cataract Syndrome |
|
Scoliosis, Hyperlordosis |
ORPHA:2310 |
Hemoglobin E Disease |
|
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... |
ORPHA:2133 |
Pelvic Hypoplasia With Lower-Limb Arthrogryposis |
|
Lumbar hyperlordosis, Scoliosis |
OMIM:602484 |
Asherman Syndrome |
|
Infertility, Dysmenorrhea, Metrorrhagia, Oligomenorrhea, Abnormality of the menstrual cycle, Decr... |
ORPHA:137686 |
Spastic Paraplegia 87, Autosomal Recessive |
|
Lumbar hyperlordosis |
OMIM:619966 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
|
Back pain, Hyperlordosis |
OMIM:618129 |
Neuronopathy, Distal Hereditary Motor, Type Viii |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:600175 |
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability |
|
Scoliosis, Spinal rigidity, Hyperlordosis |
OMIM:617404 |
Osteomesopyknosis |
|
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:2777 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly |
ORPHA:231393 |
Isolated Glycerol Kinase Deficiency |
|
Scoliosis, Hyperlordosis |
ORPHA:408 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 |
|
Scoliosis, Hyperlordosis |
OMIM:611067 |
Nijmegen Breakage Syndrome-Like Disorder |
|
Chromosomal breakage induced by ionizing radiation |
OMIM:613078 |
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16 |
|
Lumbar hyperlordosis |
ORPHA:280333 |
Rigid Spine Syndrome |
|
Scoliosis, Spinal rigidity, Hyperlordosis |
ORPHA:97244 |
Myasthenic Syndrome, Congenital, 16 |
|
Hyperlordosis |
OMIM:614198 |
Myopathy, Congenital, With Tremor |
|
Lumbar hyperlordosis, Scoliosis, Spinal rigidity |
OMIM:618524 |
Myasthenic Syndrome, Congenital, 14 |
|
Scoliosis, Hyperlordosis |
OMIM:616228 |
Spinal Muscular Atrophy, Infantile, James Type |
|
Lumbar hyperlordosis, Scoliosis |
OMIM:619042 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Anemia, Splenomegaly |
ORPHA:46532 |
Chromosomal Instability With Tissue-Specific Radiosensitivity |
|
Abnormality of chromosome stability |
OMIM:215510 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1 |
|
Lumbar hyperlordosis, Spinal rigidity |
OMIM:609308 |
Hypochondroplasia |
|
Lumbar hyperlordosis |
OMIM:146000 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Irregular vertebral endplates, Kyphoscoliosis, Scoliosis, Hyperlordosis, Abnormal vertebral morph... |
OMIM:618363 |
Metaphyseal Chondrodysplasia, Spahr Type |
|
Scoliosis, Hyperlordosis |
ORPHA:2501 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:300448 |
Masa Syndrome |
|
Kyphosis, Hyperlordosis |
OMIM:303350 |
Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3 |
|
Thoracic scoliosis, Hyperlordosis |
ORPHA:62 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant |
|
Irregular vertebral endplates, Kyphoscoliosis, Lumbar hyperlordosis, Platyspondyly, Short neck, C... |
OMIM:184100 |
Bicd2-Related Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy |
|
Hyperlordosis |
ORPHA:363454 |
Scleroderma, Familial Progressive |
|
Chromosome breakage, Abnormality of chromosome stability |
OMIM:181750 |
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity |
|
Abnormality of chromosome stability |
OMIM:600546 |
Hypochondroplasia |
|
Spinal canal stenosis, Scoliosis, Abnormal form of the vertebral bodies, Hyperlordosis |
ORPHA:429 |
Premature Ovarian Failure 13 |
|
Amenorrhea, Oligomenorrhea, Female infertility |
OMIM:617442 |
Fanconi Anemia, Complementation Group J |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:609054 |
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Kyphosis, Lumbar hyperlordosis, Scoliosis |
OMIM:616756 |
Mucolipidosis Type Iii |
|
Abnormal form of the vertebral bodies, Hyperlordosis |
ORPHA:577 |
Autosomal Dominant Spondylocostal Dysostosis |
|
Vertebral segmentation defect, Short neck, Scoliosis, Spina bifida occulta, Hyperlordosis, Abnorm... |
ORPHA:1797 |
Anauxetic Dysplasia 2 |
|
Short neck, Cervical spine instability, Thoracolumbar kyphoscoliosis, Hyperlordosis, Ovoid verteb... |
OMIM:617396 |
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Thoracic scoliosis, Thoracic kyphosis, Lumbar hyperlordosis |
ORPHA:206546 |
Myasthenic Syndrome, Congenital, 5 |
|
Scoliosis, Hyperlordosis |
OMIM:603034 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17 |
|
Lumbar hyperlordosis |
OMIM:613723 |
Diastrophic Dysplasia |
|
Kyphoscoliosis, Lumbar hyperlordosis, Scoliosis, Cervical kyphosis, Hypoplastic cervical vertebrae |
OMIM:222600 |
Crisponi/Cold-Induced Sweating Syndrome 2 |
|
Thoracolumbar scoliosis, Lumbar hyperlordosis |
OMIM:610313 |
N Syndrome |
|
Abnormality of chromosome stability |
OMIM:310465 |
Acrocapitofemoral Dysplasia |
|
Scoliosis, Ovoid vertebral bodies, Hyperlordosis |
ORPHA:63446 |
Premature Ovarian Failure 6 |
|
Female infertility, Streak ovary, Primary amenorrhea, Secondary amenorrhea, Premature ovarian ins... |
OMIM:612310 |
Atelosteogenesis, Type Ii |
|
Lumbar hyperlordosis, Increased intervertebral space, Horizontal sacrum, Platyspondyly, Short nec... |
OMIM:256050 |
Radial-Renal Syndrome |
|
Chromosome breakage |
OMIM:179280 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9 |
|
Lumbar hyperlordosis |
OMIM:613818 |
Cyanosis, Transient Neonatal |
|
Methemoglobinemia, Reticulocytosis, Anemia |
OMIM:613977 |
Premature Ovarian Failure 20 |
|
Secondary amenorrhea, Female infertility |
OMIM:619938 |
Duchenne And Becker Muscular Dystrophy |
|
Scoliosis, Hyperlordosis |
ORPHA:262 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:615290 |
Dna2-Related Mitochondrial Dna Deletion Syndrome |
|
Hyperlordosis |
ORPHA:352470 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Kyphosis, Abnormal reticulocyte morphology, Short neck, Hyperlordosis, Fused cervical vertebrae |
ORPHA:2522 |
Epiphyseal Dysplasia, Multiple, With Miniepiphyses |
|
Lumbar hyperlordosis |
OMIM:609325 |
Acrodysplasia Scoliosis |
|
Vertebral segmentation defect, Scoliosis, Spina bifida occulta |
ORPHA:2956 |
Immunodeficiency 54 |
|
Chromosome breakage |
OMIM:609981 |
Spondyloepimetaphyseal Dysplasia, Handigodu Type |
|
Hump-shaped mound of bone in central and posterior portions of vertebral endplate, Lumbar hyperlo... |
ORPHA:99642 |
Pseudodiastrophic Dysplasia |
|
Lumbar hyperlordosis, Tongue-like lumbar vertebral deformities, Platyspondyly, Short neck, Scolio... |
OMIM:264180 |
Fanconi Anemia, Complementation Group G |
|
Abnormality of chromosome stability |
OMIM:614082 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4 |
|
Hyperlordosis |
OMIM:611588 |
Fanconi Anemia, Complementation Group O |
|
Chromosome breakage |
OMIM:613390 |
Achondroplasia |
|
Spinal stenosis with reduced interpedicular distance, Lumbar hyperlordosis, Lumbar kyphosis in in... |
OMIM:100800 |
Nemaline Myopathy 7 |
|
Kyphoscoliosis, Lumbar hyperlordosis |
OMIM:610687 |
Diamond-Blackfan Anemia 3 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope... |
OMIM:610629 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Kyphosis, Secondary amenorrhea, Hyperlordosis |
ORPHA:3085 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 16 |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:619060 |
Ck Syndrome |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:300831 |
Fanconi Anemia, Complementation Group D1 |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:605724 |
Alpha-Thalassemia |
|
Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, Hypersplenism |
ORPHA:846 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Spinal rigidity, Hyperlordosis |
ORPHA:157973 |
Mucolipidosis Iii Gamma |
|
Kyphosis, Short neck, Scoliosis, Hyperlordosis |
OMIM:252605 |
Fragile X Syndrome |
|
Folate-dependent fragile site at Xq28 |
OMIM:300624 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Hump-shaped mound of bone in central and posterior portions of vertebral endplate, Kyphosis, Lumb... |
OMIM:313400 |
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type |
|
Lumbar hyperlordosis |
ORPHA:156728 |
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1 |
|
Spinal rigidity, Hyperlordosis |
ORPHA:267 |
Nemaline Myopathy 3 |
|
Scoliosis, Spinal rigidity, Hyperlordosis |
OMIM:161800 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Anemia, Hyperlordosis |
ORPHA:1192 |
Facioscapulohumeral Dystrophy |
|
Hyperlordosis |
ORPHA:269 |
Neuropathy, Congenital, With Arthrogryposis Multiplex |
|
Hyperlordosis |
OMIM:162370 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Lumbar hyperlordosis, Narrow vertebral interpedicular distance, Splenomegaly, Short neck, Platysp... |
OMIM:602557 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Kyphosis, Vertebral fusion, Scoliosis, Hyperlordosis |
OMIM:606612 |
Fanconi Anemia, Complementation Group S |
|
Chromosome breakage |
OMIM:617883 |
Myopathy, Distal, 1 |
|
Lumbar hyperlordosis, Scoliosis |
OMIM:160500 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Platyspondyly, Scoliosis, Hyperlordosis, C1-C2 subluxation, Hypoplasia of the odontoid process |
OMIM:184250 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Kyphosis, Scoliosis, Sacral dimple, Hyperlordosis |
OMIM:615761 |
Progressive Pseudorheumatoid Arthropathy Of Childhood |
|
Irregular vertebral endplates, Beaking of vertebral bodies, Platyspondyly, Scoliosis, Hyperlordos... |
ORPHA:1159 |
Fragile X Syndrome |
|
Folate-dependent fragile site at Xq28 |
ORPHA:908 |
Beta-Thalassemia |
|
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio |
OMIM:613985 |
Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Hypogonadotropic hypogonadism, Scoliosis, Hyperlordosis |
ORPHA:1387 |
Transcobalamin Deficiency |
|
Abnormality of chromosome stability |
ORPHA:859 |
Jansen-De Vries Syndrome |
|
Hyperlordosis |
OMIM:617450 |
Mulchandani-Bhoj-Conlin Syndrome |
|
Scoliosis, Hyperlordosis |
OMIM:617352 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Squared-off platyspondyly, Narrow vertebral interpedicular distance, Hepatosplenomegaly, Short ne... |
ORPHA:93352 |
Nemaline Myopathy 2 |
|
Scoliosis, Spinal rigidity, Hyperlordosis |
OMIM:256030 |
Myopathy, Scapulohumeroperoneal |
|
Scoliosis, Hyperlordosis |
OMIM:616852 |
Ataxia-Telangiectasia |
|
Abnormality of chromosome stability, Cognitive impairment |
ORPHA:100 |
Multiple Metaphyseal Dysplasia |
|
Hyperlordosis |
ORPHA:93430 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia |
ORPHA:231401 |
Fanconi Anemia, Complementation Group I |
|
Chromosomal breakage induced by crosslinking agents, Colpocephaly, Agenesis of corpus callosum |
OMIM:609053 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Irregular vertebral endplates, Beaking of vertebral bodies, Lumbar hyperlordosis, Platyspondyly, ... |
OMIM:609616 |
Thoracomelic Dysplasia |
|
Short neck, Hyperlordosis |
ORPHA:1803 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Abnormal form of the vertebral bodies, Hyperlordosis |
ORPHA:2831 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Female infertility, Scoliosis, Premature ovarian insufficiency |
OMIM:619518 |
Fanconi Anemia, Complementation Group Q |
|
Chromosome breakage |
OMIM:615272 |
Myopathy, Centronuclear, 2 |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:255200 |
Ck Syndrome |
|
Kyphoscoliosis, Lumbar hyperlordosis |
ORPHA:251383 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Butterfly vertebrae, Lumbar hyperlordosis, Scoliosis, Thoracic kyphoscoliosis, Vertebral fusion |
ORPHA:313892 |
Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Hyperlordosis |
ORPHA:970 |
Fanconi Anemia, Complementation Group V |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:617243 |
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans |
|
Lumbar hyperlordosis |
OMIM:165800 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Lumbar hyperlordosis, Platyspondyly, Hypoplastic sacrum |
OMIM:271650 |
Pseudoachondroplasia |
|
Beaking of vertebral bodies, Lumbar hyperlordosis, Platyspondyly, Scoliosis, Abnormal form of the... |
ORPHA:750 |
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome |
|
Short neck, Abnormal form of the vertebral bodies, Hyperlordosis |
ORPHA:3218 |
Mucopolysaccharidosis, Type Iva |
|
Kyphosis, Anterior beaking of lumbar vertebrae, Platyspondyly, Short neck, Scoliosis, Hyperlordos... |
OMIM:253000 |
Spondyloepiphyseal Dysplasia Tarda |
|
Hump-shaped mound of bone in central and posterior portions of vertebral endplate, Kyphoscoliosis... |
ORPHA:93284 |
Myopathy, Centronuclear, 1 |
|
Hyperlordosis |
OMIM:160150 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Hyperlordosis |
ORPHA:369840 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 |
|
Hyperlordosis |
OMIM:613157 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Abnormal vertebral morphology, Increased vertebral height, Kyphoscoliosis, Hyperlordosis |
OMIM:616817 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Scoliosis, Hyperlordosis |
OMIM:613156 |
Usmani-Riazuddin Syndrome, Autosomal Dominant |
|
Thoracic kyphosis, Lumbar hyperlordosis |
OMIM:619467 |
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Lumbar hyperlordosis, Scoliosis, Abnormal macrophage morphology |
ORPHA:353 |
Ataxia-Telangiectasia With Generalized Skin Pigmentation And Early Death |
|
Chromosome breakage, Abnormality of chromosome stability |
OMIM:208910 |
Cutis Laxa, Autosomal Recessive, Type Iie |
|
Lumbar hyperlordosis, Scoliosis, Ovoid vertebral bodies |
OMIM:619451 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Kyphosis, Vertebral fusion, Scoliosis, Hyperlordosis |
OMIM:607155 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Lumbar hyperlordosis, Back pain |
OMIM:167320 |
Sickle Cell Anemia |
|
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... |
ORPHA:232 |
Myopathic Ehlers-Danlos Syndrome |
|
Kyphosis, Kyphoscoliosis, Scoliosis, Hyperlordosis |
ORPHA:536516 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Circulating nucleated red blood cells, Anemia of inadequate production, Splenomegaly, Anemia, Ani... |
OMIM:613673 |
Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Scoliosis, Hyperlordosis |
ORPHA:2511 |
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome |
|
Vertebral segmentation defect, Scoliosis, Hyperlordosis |
ORPHA:1323 |
Fanconi Anemia, Complementation Group U |
|
Chromosome breakage |
OMIM:617247 |
Mucopolysaccharidosis, Type Ivb |
|
Kyphosis, Platyspondyly, Scoliosis, Hyperlordosis, Ovoid vertebral bodies, Cervical subluxation, ... |
OMIM:253010 |
King-Denborough Syndrome |
|
Kyphoscoliosis, Lumbar hyperlordosis, Short neck, Scoliosis, Thoracic kyphosis |
OMIM:619542 |
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Kyphoscoliosis, Lumbar hyperlordosis, Lumbar kyphosis in infancy, Thoracic kyphosis, Thoracolumba... |
ORPHA:3041 |
Beta-Thalassemia |
|
Abnormal hemoglobin, Splenomegaly, Hypogonadotropic hypogonadism, Microcytic anemia, Anemia, Thro... |
ORPHA:848 |
Mucopolysaccharidosis, Type X |
|
Beaking of vertebral bodies, Platyspondyly, Scoliosis, Hyperlordosis, Posterior scalloping of ver... |
OMIM:619698 |
Three M Syndrome 3 |
|
Increased vertebral height, Short neck, Hyperlordosis |
OMIM:614205 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Kyphosis, Lumbar hyperlordosis, Increased intervertebral space, Cervical platyspondyly, Abnormali... |
ORPHA:93314 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Irregular vertebral endplates, Lumbar hyperlordosis, Platyspondyly, Scoliosis |
OMIM:156500 |
Intellectual Disability And Myopathy Syndrome |
|
Lumbar hyperlordosis, Scoliosis |
OMIM:619719 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Lumbar hyperlordosis, Scoliosis, Spinal rigidity |
ORPHA:86812 |
3M Syndrome |
|
Kyphosis, Increased vertebral height, Short neck, Scoliosis, Hyperlordosis, Decreased fertility |
ORPHA:2616 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Scoliosis, Hyperlordosis |
OMIM:253700 |
Myopathy, Congenital, With Fiber-Type Disproportion |
|
Lumbar hyperlordosis, Scoliosis |
OMIM:255310 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Lumbar hyperlordosis, Vertebral fusion, Biconvex vertebral bodies, Platyspondyly, Short neck, Bic... |
ORPHA:93315 |
Fanconi Anemia, Complementation Group L |
|
Chromosomal breakage induced by crosslinking agents, Hydrocephalus, Chromosome breakage |
OMIM:614083 |
Fanconi Anemia, Complementation Group N |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:610832 |
Scapuloperoneal Spinal Muscular Atrophy |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:181405 |
Dyggve-Melchior-Clausen Syndrome, X-Linked |
|
Lumbar hyperlordosis, Hypoplastic sacrum, Platyspondyly, Short neck, Scoliosis, Thoracic kyphosis |
OMIM:304950 |
Icf Syndrome |
|
Abnormality of chromosome stability, Communicating hydrocephalus |
ORPHA:2268 |
Three M Syndrome 1 |
|
Increased vertebral height, Short neck, Spina bifida occulta, Hyperlordosis |
OMIM:273750 |
Satoyoshi Syndrome |
|
Amenorrhea, Hypoplasia of the ovary, Hyperlordosis |
ORPHA:3130 |
Oculocerebrodental Syndrome |
|
Thoracic kyphosis, Scoliosis, Hyperlordosis |
ORPHA:557003 |
Typical Nemaline Myopathy |
|
Kyphosis, Spinal rigidity, Short neck, Scoliosis, Hyperlordosis |
ORPHA:171436 |
Mucopolysaccharidosis Type 4 |
|
Spinal canal stenosis, Kyphosis, Platyspondyly, Short neck, Scoliosis, Hyperlordosis |
ORPHA:582 |
Ring Chromosome Y Syndrome |
|
Female infertility, Streak ovary, Male infertility, Abnormal spermatogenesis, Male hypogonadism, ... |
ORPHA:261529 |
Wieacker-Wolff Syndrome |
|
Kyphosis, Short neck, Scoliosis, Hyperlordosis |
OMIM:314580 |
Schimke Immunoosseous Dysplasia |
|
Lumbar hyperlordosis, Lymphopenia, Neutropenia, Platyspondyly, Short neck, Thrombocytopenia, Thor... |
OMIM:242900 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:128100 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Lumbar hyperlordosis, Platyspondyly, Ovoid vertebral bodies |
OMIM:608728 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Kyphosis, Back pain, Spinal rigidity, Short neck, Scoliosis, Hyperlordosis |
ORPHA:98863 |
Arthrogryposis, Distal, Type 5D |
|
Short neck, Scoliosis, Hyperlordosis |
OMIM:615065 |
Ovarian Dysgenesis 3 |
|
Female infertility, Primary amenorrhea |
OMIM:614324 |
Spondyloepiphyseal Dysplasia Congenita |
|
Kyphosis, Lumbar hyperlordosis, Atlantoaxial instability, Platyspondyly, Short neck, Scoliosis, O... |
OMIM:183900 |
Myotonia Permanens |
|
Hyperlordosis |
ORPHA:99735 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Kyphosis, Back pain, Spinal rigidity, Scoliosis, Hyperlordosis |
ORPHA:98855 |
Cartilage-Hair Hypoplasia |
|
Lumbar hyperlordosis, Lymphopenia, Narrow vertebral interpedicular distance, Congenital hypoplast... |
OMIM:250250 |
Braddock-Carey Syndrome 1 |
|
Thrombocytopenia, Hyperlordosis |
OMIM:619980 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:617821 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y |
|
Lumbar hyperlordosis |
ORPHA:435387 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Irregular vertebral endplates, Lumbar hyperlordosis, Platyspondyly, Abnormal vertebral morphology |
ORPHA:174 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Coronal cleft vertebrae, Butterfly vertebrae, Scoliosis, Hyperlordosis |
OMIM:618870 |
Desbuquois Dysplasia 1 |
|
Kyphosis, Platyspondyly, Short neck, Scoliosis, Hyperlordosis |
OMIM:251450 |
Pelvis-Shoulder Dysplasia |
|
Lumbar hyperlordosis, Back pain, Spina bifida occulta |
OMIM:169550 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Kyphosis, Lumbar hyperlordosis, Platyspondyly |
OMIM:616482 |
Schwartz-Jampel Syndrome, Type 1 |
|
Kyphoscoliosis, Lumbar hyperlordosis, Platyspondyly, Short neck, Scoliosis, Coronal cleft vertebr... |
OMIM:255800 |
Otospondylomegaepiphyseal Dysplasia |
|
Lumbar hyperlordosis, Abnormally ossified vertebrae, Platyspondyly, Short neck, Abnormal vertebra... |
ORPHA:1427 |
Spondyloepiphyseal Dysplasia Congenita |
|
Kyphosis, Lumbar hyperlordosis, Back pain, Spinal rigidity, Abnormally ossified vertebrae, Cervic... |
ORPHA:94068 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Abnormality of the vertebral column, Hyperlordosis |
ORPHA:52430 |
Congenital Myasthenic Syndromes With Glycosylation Defect |
|
Lumbar hyperlordosis, Scoliosis |
ORPHA:353327 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Kyphosis, Back pain, Spinal rigidity, Scoliosis, Hyperlordosis |
ORPHA:98853 |
Emery-Dreifuss Muscular Dystrophy |
|
Kyphosis, Back pain, Spinal rigidity, Scoliosis, Hyperlordosis |
ORPHA:261 |
Bloom Syndrome |
|
Azoospermia, Chromosome breakage, Abnormality of chromosome stability |
OMIM:210900 |
Lipodystrophy, Familial Partial, Type 6 |
|
Lumbar hyperlordosis |
OMIM:615980 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Hypogonadotropic hypogonadism, Hyperlordosis |
ORPHA:3068 |
Three M Syndrome 2 |
|
Lumbar hyperlordosis, Short neck, Hyperlordosis |
OMIM:612921 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Coronal cleft vertebrae, Beaking of vertebral bodies, Lumbar hyperlordosis, Platyspondyly |
OMIM:215150 |
Bone Marrow Failure Syndrome 6 |
|
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Neutropenia, Anemia |
OMIM:618849 |
Fucosidosis |
|
Lumbar hyperlordosis, Vacuolated lymphocytes, Splenomegaly, Anterior beaking of lumbar vertebrae,... |
OMIM:230000 |
Myopathy, Myofibrillar, 7 |
|
Thoracic kyphosis, Lumbar hyperlordosis, Scoliosis, Spinal rigidity |
OMIM:617114 |
Pseudoachondroplasia |
|
Kyphosis, Beaking of vertebral bodies, Lumbar hyperlordosis, Atlantoaxial dislocation, Platyspond... |
OMIM:177170 |
Langer Mesomelic Dysplasia |
|
Lumbar hyperlordosis |
OMIM:249700 |
Fanconi Anemia, Complementation Group B |
|
Hydrocephalus, Abnormality of chromosome stability |
OMIM:300514 |
Acromesomelic Dysplasia 1 |
|
Beaking of vertebral bodies, Lumbar hyperlordosis, Thoracolumbar interpediculate narrowness, Lowe... |
OMIM:602875 |
Anauxetic Dysplasia 1 |
|
Lumbar hyperlordosis, Atlantoaxial dislocation, Platyspondyly, Short neck, Thoracic kyphosis, Cer... |
OMIM:607095 |
Cohen Syndrome |
|
Thoracic scoliosis, Leukopenia, Lumbar hyperlordosis, Neutropenia |
OMIM:216550 |
Gm1 Gangliosidosis |
|
Kyphosis, Splenomegaly, Hepatosplenomegaly, Platyspondyly, Scoliosis, Abnormal form of the verteb... |
ORPHA:354 |
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Kyphosis, Scoliosis, Thoracolumbar scoliosis, Hyperlordosis |
OMIM:618443 |
Lateral Meningocele Syndrome |
|
Kyphosis, Short neck, Scoliosis, Abnormal form of the vertebral bodies, Hyperlordosis |
ORPHA:2789 |
Hb Bart'S Hydrops Fetalis |
|
Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:163596 |
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Lumbar hyperlordosis, Scoliosis |
OMIM:601152 |
Arthrogryposis, Distal, Type 3 |
|
Thoracolumbar scoliosis, Lumbar hyperlordosis, Short neck, Kyphoscoliosis |
OMIM:114300 |
Schimke Immuno-Osseous Dysplasia |
|
Lumbar hyperlordosis, Lymphopenia, Platyspondyly, Short neck, Abnormal proportion of naive CD4 T ... |
ORPHA:1830 |
Fanconi Anemia, Complementation Group D2 |
|
Chromosomal breakage induced by crosslinking agents, Hydrocephalus, Agenesis of corpus callosum |
OMIM:227646 |
Pfeiffer Syndrome |
|
Short neck, Hyperlordosis |
ORPHA:710 |
Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Platyspondyly, Lumbar hyperlordosis, Short neck |
OMIM:612813 |
Autosomal Recessive Centronuclear Myopathy |
|
Hyperlordosis |
ORPHA:169186 |
Dysostosis, Stanescu Type |
|
Kyphosis, Short neck, Scoliosis, Hyperlordosis |
ORPHA:1798 |
Achondroplasia |
|
Spinal canal stenosis, Kyphosis, Lumbar hyperlordosis, Cervical spinal canal stenosis, Thoracolum... |
ORPHA:15 |
Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Short neck, Lumbar hyperlordosis |
ORPHA:171866 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Scoliosis, Hyperlordosis |
OMIM:300986 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Irregular vertebral endplates, Kyphoscoliosis, Lumbar hyperlordosis, Lymphopenia, Increased inter... |
OMIM:607944 |
Muscular Dystrophy, Duchenne Type |
|
Scoliosis, Hyperlordosis |
OMIM:310200 |
Meningioma |
|
Hydrocephalus, Cognitive impairment, Memory impairment, Chromosomal breakage induced by ionizing ... |
ORPHA:2495 |
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
Irregular vertebral endplates, Platyspondyly, Hypoplasia of the odontoid process, Hyperlordosis |
OMIM:226980 |
Stiff-Person Syndrome |
|
Anemia, Lumbar hyperlordosis |
OMIM:184850 |
Fanconi Anemia, Complementation Group F |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:603467 |
Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Kyphosis, Platyspondyly, Hyposegmentation of neutrophil nuclei, Hyperlordosis, Thoracolumbar scol... |
OMIM:618019 |
Lig4 Syndrome |
|
Abnormality of chromosome stability |
ORPHA:99812 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Increased vertebral height, Lumbar hyperlordosis, Splenomegaly, Thoracic kyphoscoliosis, Pancytop... |
OMIM:613385 |
Trichorhinophalangeal Syndrome Type 1 And 3 |
|
Scoliosis, Hyperlordosis |
ORPHA:77258 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Spinal canal stenosis, Cervical spinal canal stenosis, Scoliosis, Hyperlordosis, Coronal cleft ve... |
OMIM:616007 |
Fanconi Anemia, Complementation Group E |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:600901 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Cervical C2/C3 vertebral fusion, Lumbar hyperlordosis, Lumbar scoliosis |
OMIM:617796 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
3Mc Syndrome |
|
Scoliosis, Spina bifida occulta, Hyperlordosis, Caudal appendage, Prominent coccyx |
ORPHA:293843 |
Cap Myopathy |
|
Thoracic scoliosis, Lumbar hyperlordosis |
ORPHA:171881 |
Pure Mitochondrial Myopathy |
|
Lumbar hyperlordosis, Scoliosis |
ORPHA:254854 |
Acrocapitofemoral Dysplasia |
|
Lumbar hyperlordosis, Scoliosis, Ovoid vertebral bodies |
OMIM:607778 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Kyphoscoliosis, Lumbar hyperlordosis, Platyspondyly, Biconcave vertebral bodies, Thoracic kyphosi... |
OMIM:271510 |
Pycnodysostosis |
|
Kyphosis, Spondylolisthesis, Spondylolysis, Hepatosplenomegaly, Scoliosis, Hyperlordosis |
ORPHA:763 |
Fanconi Anemia, Complementation Group A |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:227650 |
Joubert Syndrome 37 |
|
Lumbar hyperlordosis |
OMIM:619185 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Beaking of vertebral bodies, Kyphoscoliosis, Platyspondyly, Short neck, Hyperlordosis, Thoracolum... |
ORPHA:457395 |
Revesz Syndrome |
|
Abnormality of chromosome stability, Progressive neurologic deterioration |
OMIM:268130 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Scoliosis, Spina bifida occulta, Hyperlordosis |
ORPHA:2780 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Kyphosis, Lumbar hyperlordosis, Lymphopenia, Increased intervertebral space, Cervical instability... |
ORPHA:508533 |
Cartilage-Hair Hypoplasia |
|
Abnormally ossified vertebrae, Biconvex vertebral bodies, Short neck, Scoliosis, Abnormal form of... |
ORPHA:175 |
Dyggve-Melchior-Clausen Disease |
|
Kyphosis, Beaking of vertebral bodies, Lumbar hyperlordosis, Platyspondyly, Short neck, Scoliosis... |
OMIM:223800 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
HbH hemoglobin, Short neck, Microcytic anemia |
ORPHA:98791 |
Stiff Person Spectrum Disorder |
|
Lumbar hyperlordosis |
ORPHA:3198 |
Fanconi Anemia, Complementation Group C |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:227645 |
Spondylometaphyseal Dysplasia, Algerian Type |
|
Platyspondyly, Kyphoscoliosis, Lumbar hyperlordosis |
OMIM:184253 |
Spondylocarpotarsal Synostosis Syndrome |
|
Vertebral segmentation defect, C2-C3 subluxation, Short neck, Scoliosis, Hypoplasia of the odonto... |
OMIM:272460 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Splenomegaly, Scoliosis, Spinal rigidity, Hyperlordosis |
OMIM:613327 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Infertility, Kyphosis, Impotence, Lumbar hyperlordosis, Streak ovary, Hypergonadotropic hypogonad... |
ORPHA:2232 |
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy |
|
Hyperlordosis |
ORPHA:437572 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Amenorrhea, Irregular menstruation, Female infertility, Premature ovarian insufficiency |
OMIM:110100 |
Acromesomelic Dysplasia 4 |
|
Beaking of vertebral bodies, Thoracic scoliosis, Lumbar hyperlordosis, Platyspondyly, Thoracic pl... |
OMIM:619636 |
Beta-Thalassemia Intermedia |
|
Anemia of inadequate production, Decreased mean corpuscular volume, Leukocytosis, Splenomegaly, E... |
ORPHA:231222 |
Microphthalmia, Lenz Type |
|
Kyphosis, Scoliosis, Hyperlordosis |
ORPHA:568 |
Primary Ciliary Dyskinesia |
|
Female infertility, Male infertility, Polysplenia, Abnormal sperm motility, Asplenia |
ORPHA:244 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Hyperlordosis, Hypogonadism |
ORPHA:3253 |
Bethlem Myopathy |
|
Lumbar hyperlordosis, Scoliosis, Spinal rigidity |
ORPHA:610 |
Trichorhinophalangeal Syndrome, Type I |
|
Scoliosis, Hyperlordosis |
OMIM:190350 |
Riddle Syndrome |
|
Chromosomal breakage induced by ionizing radiation |
ORPHA:420741 |
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay |
|
Lumbar hyperlordosis, Back pain, Lumbar kyphosis |
OMIM:619234 |
Lead Poisoning |
|
Infertility, Decreased male libido, Reduced sperm motility, Oligospermia, Abnormality of the mens... |
ORPHA:330015 |
Saethre-Chotzen Syndrome |
|
Scoliosis, Abnormal form of the vertebral bodies, Hyperlordosis |
ORPHA:794 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Lumbar hyperlordosis |
ORPHA:370959 |
Trichodermodysplasia-Dental Alterations Syndrome |
|
Scoliosis, Hyperlordosis |
ORPHA:3353 |
Camurati-Engelmann Disease |
|
Kyphosis, Splenomegaly, Leukopenia, Abnormality of the vertebral column, Scoliosis, Hyperlordosis... |
ORPHA:1328 |
Pelvis-Shoulder Dysplasia |
|
Prominent protruding coccyx, Lumbar hyperlordosis, Abnormal form of the vertebral bodies |
ORPHA:2839 |
Hereditary Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:621 |
Multiple Endocrine Neoplasia, Type Iib |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:162300 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hyperlordosis |
ORPHA:26791 |
Shwachman-Diamond Syndrome 1 |
|
Neutropenia, Persistence of hemoglobin F, Ovoid vertebral bodies, Pancytopenia, Anemia, Thrombocy... |
OMIM:260400 |
Diamond-Blackfan Anemia 6 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia |
OMIM:612561 |
Combined Immunodeficiency With Faciooculoskeletal Anomalies |
|
Abnormal T cell subset distribution, B lymphocytopenia, Hyperlordosis, Decreased proportion of CD... |
ORPHA:221139 |
Martsolf Syndrome 1 |
|
Thoracic scoliosis, Hypogonadotropic hypogonadism, Lumbar hyperlordosis |
OMIM:212720 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Spinal rigidity, Hyperlordosis |
ORPHA:268 |
Mucopolysaccharidosis, Type Vi |
|
Kyphoscoliosis, Lumbar hyperlordosis, Splenomegaly, Ovoid vertebral bodies, Anterior wedging of L... |
OMIM:253200 |
Desbuquois Dysplasia 2 |
|
Platyspondyly, Lumbar hyperlordosis, Short neck |
OMIM:615777 |
Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Lumbar hyperlordosis, Hepatosplenomegaly, Short neck, Leukopenia, Thoracic kyphosis, Anemia, Thro... |
ORPHA:505248 |
Schwartz-Jampel Syndrome |
|
Kyphosis, Spinal rigidity, Abnormally straight spine, Abnormally ossified vertebrae, Short neck, ... |
ORPHA:800 |
Alexander Disease |
|
Kyphosis, Short neck, Scoliosis, Hyperlordosis |
ORPHA:58 |
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked |
|
Kyphosis, Kyphoscoliosis, Reduced alpha/beta synthesis ratio, Hemivertebrae, Scoliosis, Hypochrom... |
OMIM:301040 |
Distal Monosomy 10Q |
|
Lumbar hyperlordosis, Spina bifida occulta |
ORPHA:96148 |
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related |
|
HbH hemoglobin, Short neck, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:141750 |
Frontorhiny |
|
Lumbar hyperlordosis, Scoliosis |
ORPHA:391474 |
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:617011 |
Nijmegen Breakage Syndrome |
|
Mental deterioration, Abnormality of chromosome stability |
ORPHA:647 |
Beta-Thalassemia Major |
|
Anemia of inadequate production, Decreased mean corpuscular volume, Splenomegaly, Extramedullary ... |
ORPHA:231214 |
Dominant Beta-Thalassemia |
|
Decreased mean corpuscular volume, Splenomegaly, Extramedullary hematopoiesis, Anisocytosis, Pers... |
ORPHA:231226 |
Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
Lumbar hyperlordosis, Hyperlordosis |
OMIM:616078 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Scoliosis, Hyperlordosis |
OMIM:615356 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Lumbar hyperlordosis, Short neck |
ORPHA:251028 |
Weill-Marchesani Syndrome 1 |
|
Spinal canal stenosis, Lumbar hyperlordosis, Scoliosis |
OMIM:277600 |
Nail-Patella Syndrome |
|
Lumbar hyperlordosis, Back pain, Scoliosis |
OMIM:161200 |
Split Cord Malformation |
|
Kyphoscoliosis, Butterfly vertebrae, Back pain, Hemivertebrae, Abnormality of the vertebral colum... |
ORPHA:573278 |
Nail-Patella Syndrome |
|
Lumbar hyperlordosis, Spondylolisthesis, Back pain, Spondylolysis, Scoliosis |
ORPHA:2614 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Scoliosis, Hyperlordosis |
ORPHA:258 |
Fanconi Anemia |
|
Azoospermia, Hydrocephalus, Spina bifida, Abnormality of chromosome stability |
ORPHA:84 |
Ring Chromosome 12 Syndrome |
|
Lumbar hyperlordosis |
ORPHA:1439 |
Hallermann-Streiff Syndrome |
|
Scoliosis, Hyperlordosis |
OMIM:234100 |
Shprintzen Omphalocele Syndrome |
|
Kyphosis, Lumbar hyperlordosis, Scoliosis |
OMIM:182210 |
Blackfan-Diamond Anemia |
|
Increased mean corpuscular volume, Neutropenia, Persistence of hemoglobin F, Leukopenia, Short ne... |
ORPHA:124 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Irregular vertebral endplates, Kyphosis, Kyphoscoliosis, Lumbar hyperlordosis, Narrow vertebral i... |
OMIM:143095 |
Aromatase Deficiency |
|
Hypergonadotropic hypogonadism, Female infertility, Primary amenorrhea, Male infertility |
ORPHA:91 |
Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness |
|
Lumbar hyperlordosis, Scoliosis |
OMIM:250420 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Hepatosplenomegaly, Hyperlordosis |
OMIM:301066 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Hyperlordosis |
ORPHA:261330 |
Opitz-Kaveggia Syndrome |
|
Lumbar hyperlordosis, Short neck, Sacral dimple |
OMIM:305450 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Kyphosis, Spondylolisthesis, Cervical spinal canal stenosis, Scoliosis, Hyperlordosis, Sacral dimple |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Kyphosis, Spondylolisthesis, Cervical spinal canal stenosis, Scoliosis, Hyperlordosis, Sacral dimple |
ORPHA:363958 |
Congenital Fiber-Type Disproportion Myopathy |
|
Kyphoscoliosis, Scoliosis, Hyperlordosis |
ORPHA:2020 |
Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
Tessadori-Van Haaften Neurodevelopmental Syndrome 3 |
|
Short neck, Scoliosis, Sacral dimple, Hyperlordosis |
OMIM:619950 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Lumbar hyperlordosis, Scoliosis |
ORPHA:522077 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Female infertility, Streak ovary, Hypergonadotropic hypogonadism, Oligomenorrhea, Secondary ameno... |
ORPHA:572333 |
Weill-Marchesani Syndrome 2 |
|
Spinal canal stenosis, Lumbar hyperlordosis, Scoliosis |
OMIM:608328 |
Iniencephaly |
|
Absent vertebra, Hyperlordosis |
ORPHA:63259 |
Thymoma |
|
Imbalanced hemoglobin synthesis, Leukemia, Aplastic anemia, Pure red cell aplasia |
ORPHA:99867 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Scoliosis, Hyperlordosis |
ORPHA:365 |
Sponastrime Dysplasia |
|
Kyphoscoliosis, Lumbar hyperlordosis, Abnormality of the vertebral column, Platyspondyly, Biconca... |
ORPHA:93357 |
Multiple Endocrine Neoplasia Type 2 |
|
Kyphoscoliosis, Hyperlordosis |
ORPHA:653 |
Camptodactyly Syndrome, Guadalajara, Type I |
|
Lumbar hyperlordosis, Horizontal sacrum, Spina bifida occulta, Sacral dimple, Hypoplastic 5th lum... |
OMIM:211910 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Kyphosis, Kyphoscoliosis, Lumbar hyperlordosis |
ORPHA:457359 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Kyphosis, Lumbar hyperlordosis, Anterior wedging of T11, Platyspondyly, Hypoplasia of the odontoi... |
OMIM:300106 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
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Persistence of hemoglobin F |
OMIM:619769 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
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Lumbar hyperlordosis, Scoliosis |
OMIM:616975 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
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Kyphosis, Female infertility, Primary amenorrhea, Short neck, Scoliosis, Secondary amenorrhea, Pr... |
ORPHA:99413 |
Turner Syndrome |
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Kyphosis, Female infertility, Primary amenorrhea, Short neck, Scoliosis, Secondary amenorrhea, Pr... |
ORPHA:881 |
Mosaic Monosomy X |
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Kyphosis, Female infertility, Primary amenorrhea, Short neck, Scoliosis, Secondary amenorrhea, Pr... |
ORPHA:99228 |
Monosomy X |
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Kyphosis, Female infertility, Primary amenorrhea, Short neck, Scoliosis, Secondary amenorrhea, Pr... |
ORPHA:99226 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
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Anemia, Abnormal hemoglobin |
ORPHA:847 |
Williams Syndrome |
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Vertebral segmentation defect, Kyphosis, Functional abnormality of male internal genitalia, Hypog... |
ORPHA:904 |
Turnpenny-Fry Syndrome |
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Lumbar hyperlordosis, Thoracic kyphoscoliosis |
OMIM:618371 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
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Kyphoscoliosis, Scoliosis, Hyperlordosis |
ORPHA:363700 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
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Hepatosplenomegaly, Hyperlordosis, Hemolytic anemia, Thoracolumbar scoliosis, Sacral dimple |
OMIM:619503 |
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
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Hyperlordosis |
ORPHA:73223 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
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Hemivertebrae, Kyphoscoliosis, Lumbar hyperlordosis |
ORPHA:500150 |
Branchiooculofacial Syndrome |
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Kyphosis, Short neck, Hyperlordosis |
OMIM:113620 |
Microphthalmia, Syndromic 1 |
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Kyphoscoliosis, Lumbar hyperlordosis, Scoliosis |
OMIM:309800 |