Neutropenia, Severe Congenital, 10, Autosomal Recessive |
|
Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia |
OMIM:620534 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ... |
OMIM:202700 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
B lymphocytopenia, Neutropenia, Monocytosis |
OMIM:613107 |
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume |
ORPHA:494444 |
Bleeding Disorder, Platelet-Type, 16 |
|
Platelet anisocytosis, Giant platelets, Thrombocytopenia, Impaired platelet aggregation, Anemia, ... |
OMIM:187800 |
Bleeding Disorder, Platelet-Type, 24 |
|
Platelet anisocytosis, Impaired arachidonic acid-induced platelet aggregation, Impaired epinephri... |
OMIM:619271 |
Bleeding Disorder, Platelet-Type, 15 |
|
Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Throm... |
OMIM:615193 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Pancytopenia, Splenomegaly, Lymphocytosis, Neutropenia, Monocytosis, Leukemia, Autoimmune thrombo... |
OMIM:614470 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Giant platelets, Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, Thrombocy... |
OMIM:155100 |
Platelet Glycoprotein Iv Deficiency |
|
Giant platelets, Thrombocytopenia |
OMIM:608404 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,... |
OMIM:314050 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Leukopenia, Acute myeloid leukemia, Refractory anemia, Monocytosis |
OMIM:616871 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Polyarticular arthritis, Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis |
OMIM:619281 |
Bleeding Disorder, Platelet-Type, 25 |
|
Impaired ADP-induced platelet aggregation, Thrombocytopenia, Macrothrombocytopenia, Impaired coll... |
OMIM:620486 |
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant |
|
Macrothrombocytopenia |
OMIM:619840 |
Thrombocytopenia 4 |
|
Abnormal platelet volume, Thrombocytopenia |
OMIM:612004 |
Giant platelet syndrome with thrombocytopenia |
|
Giant platelets, Thrombocytopenia |
OMIM:137560 |
Sitosterolemia 1 |
|
Stomatocytosis, Giant platelets, Hyperapobetalipoproteinemia, Xanthelasma, Reticulocytosis, Splen... |
OMIM:210250 |
Immunodeficiency 15B |
|
Reduced natural killer cell count, Monocytosis |
OMIM:615592 |
Slc35A1-Cdg |
|
Thrombocytopenia, Neutropenia, Giant platelets, Abnormal platelet granules |
ORPHA:238459 |
Myh9-Related Disease |
|
Neutrophil inclusion bodies, Giant platelets, Congenital thrombocytopenia, Increased mean platele... |
ORPHA:182050 |
Adult Idiopathic Neutropenia |
|
Monocytopenia, Lymphopenia, Neutropenia, Monocytosis |
ORPHA:2688 |
Bernard-Soulier Syndrome |
|
Impaired ristocetin-induced platelet aggregation, Macrothrombocytopenia, Giant platelets, Thrombo... |
OMIM:231200 |
Thrombocytopenia 2 |
|
Abnormal platelet shape, Abnormal platelet volume, Leukocytosis, Thrombocytopenia |
OMIM:188000 |
Bleeding Disorder, Platelet-Type, 21 |
|
Impaired platelet aggregation, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Incre... |
OMIM:617443 |
Pelger-Huet Anomaly |
|
Giant platelets, Hyposegmentation of neutrophil nuclei, Thrombocytopenia, Neutropenia, Abnormalit... |
OMIM:169400 |
Diamond-Blackfan Anemia 18 |
|
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia |
OMIM:618310 |
Immunodeficiency 91 And Hyperinflammation |
|
Neutrophilia, Hemophagocytosis, Hepatosplenomegaly, Thrombocytopenia, Monocytosis, Elevated circu... |
OMIM:619644 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Osteopenia, Aplastic anemia, Lymphopenia, Eosinophilia, Acute myeloid leukemia, Neutropenia, Mono... |
ORPHA:486 |
Immunodeficiency 21 |
|
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Osteomyelitis, Anemia, Neutropen... |
OMIM:614172 |
Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia |
OMIM:300299 |
X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
Immunodeficiency 32B |
|
Hypoalbuminemia, Impaired oxidative burst, Splenomegaly, Eosinophilia, Monocytopenia, Thrombocyto... |
OMIM:226990 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Stomatocytosis, Impaired ADP-induced platelet aggregation, Splenomegaly, Impaired collagen-relate... |
OMIM:153670 |
Microcephaly With Cervical Spine Fusion Anomalies |
|
Spinal instability, Vertebral fusion |
OMIM:251250 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Thrombocytopenia, Increased mean platelet volume |
OMIM:300048 |
Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Granulom... |
OMIM:619802 |
Immunodeficiency 113 With Autoimmunity And Autoinflammation |
|
Neutrophilia, Intraalveolar phospholipid accumulation, Leukocytosis, Autoimmune hemolytic anemia,... |
OMIM:620565 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Block vertebrae, Abnormal odontoid process morphology, Vertebral segmentation defect, Kyphoscolio... |
OMIM:277300 |
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay |
|
Platelet anisocytosis, Prominent metopic ridge, Thrombocytopenia, Increased mean platelet volume |
OMIM:620475 |
Multiple Synostoses Syndrome 2 |
|
Carpal synostosis, Humeroradial synostosis, Finger symphalangism, Proximal symphalangism, Vertebr... |
OMIM:610017 |
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
|
Abnormal form of the vertebral bodies, Joint stiffness, Posterior fusion of lumbosacral vertebrae... |
ORPHA:2064 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Hypertriglyceridemi... |
OMIM:603552 |
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Macrothrombocytopenia, Thrombocytopenia, Impaired platelet aggregation |
OMIM:124900 |
Bleeding Disorder, Platelet-Type, 19 |
|
Anemia, Macrothrombocytopenia, Thrombocytopenia |
OMIM:616176 |
Immunodeficiency 11A |
|
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells |
OMIM:615206 |
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis |
|
Posterior fusion of lumbosacral vertebrae |
OMIM:192800 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Osteopenia, Shallow acetabular fossae, Giant platelets, Butterfly vertebrae, Vertebral segmentati... |
OMIM:611209 |
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Macrothrombocytopenia, Impaired platelet aggregation |
OMIM:613112 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Hypochromic anemia, Anemia of inadequate production, Anisocytosis, Poikilocytosis, Macrothrombocy... |
ORPHA:67044 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Elbow contracture, Elevated circulating creatine kinase concentration, Hyperlordosis, Achilles te... |
OMIM:606612 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Short neck, Fused thoracic vertebrae, Antecubital pterygium, Tarsal synostosis, Scoliosis, Flexio... |
OMIM:618469 |
Amegakaryocytic Thrombocytopenia, Congenital, 2 |
|
Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Elevated circulating alpha-... |
OMIM:620481 |
Takenouchi-Kosaki Syndrome |
|
Camptodactyly, Scoliosis, Thrombocytopenia, Increased mean platelet volume |
OMIM:616737 |
Trichohepatoenteric Syndrome 1 |
|
Hypoalbuminemia, Hypermethioninemia, Increased circulating iron concentration, Avascular necrosis... |
OMIM:222470 |
Bernard-Soulier Syndrome |
|
Impaired ristocetin-induced platelet aggregation, Macrothrombocytopenia, Giant platelets, Decreas... |
ORPHA:274 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Elevated circulating creatine kinase concentration, Hyperlordosis, Achilles tendon contracture, V... |
OMIM:607155 |
Storage Pool Platelet Disease |
|
Decreased mean platelet volume, Acute leukemia |
OMIM:185050 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Lymphopenia, Hepatosplenomegaly, Leukopenia, Splenomegaly, Erythroid hypoplasia, Hypoplasia of th... |
OMIM:612541 |
Anemia, Sideroblastic, 5 |
|
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia |
OMIM:619523 |
Klippel-Feil Syndrome 3, Autosomal Dominant |
|
Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion, Thoracic scoliosis |
OMIM:613702 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Popliteal pterygium, Arthrogryposis multiplex congenita, Cervical spinal canal stenosis, Carpal s... |
OMIM:178110 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
Spondylocostal Dysostosis 5 |
|
Butterfly vertebrae, Low back pain, Short neck, Hemivertebrae, Vertebral fusion, Scoliosis |
OMIM:122600 |
Thrombocytopenia 3 |
|
Decreased mean platelet volume, Thrombocytopenia |
OMIM:273900 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplenomegaly, Pancytopen... |
OMIM:618986 |
Brachydactyly, Type B1 |
|
Joint contracture of the hand, Hypoplastic sacrum, Delayed cranial suture closure, Thoracolumbar ... |
OMIM:113000 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Vertebral fusion, Sacral dimple, Vertebral segmentation defect |
OMIM:618845 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Osteomyelitis, Splenomegaly, Abscess, Joint swelling, Neutrophilia, Elevated circulat... |
OMIM:612852 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Hepatosplenomegaly, Radioulnar synostosis, Limited pronation/supination of forearm, Congenital th... |
OMIM:616738 |
Chronic Myeloid Leukemia |
|
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... |
ORPHA:521 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Neutro... |
OMIM:619041 |
Thrombocytopenia 1 |
|
Decreased mean platelet volume, Joint hemorrhage, Congenital thrombocytopenia, Intermittent throm... |
OMIM:313900 |
Isolated Klippel-Feil Syndrome |
|
Abnormality of the vertebral column, Cervical C2/C3 vertebral fusion, Short neck, Abnormal sacrum... |
ORPHA:2345 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Abnormal vertebral morphology, Limitation of joint mobility, Genu valgum, Intervertebral space na... |
ORPHA:93315 |
Disabling Pansclerotic Morphea Of Childhood |
|
Elevated circulating C-reactive protein concentration, Lymphopenia, Joint contracture, Neutropenia |
OMIM:620443 |
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Fused cervical vertebrae, Abnormal sacrum morphology, Scoliosis, Thoracic hemivertebrae |
ORPHA:1436 |
Fanconi Anemia, Complementation Group V |
|
Anemia, Thrombocytopenia, Neutropenia, Elevated circulating alpha-fetoprotein concentration |
OMIM:617243 |
Diaphanospondylodysostosis |
|
Absent or minimally ossified vertebral bodies, Short neck, Abnormal vertebral segmentation and fu... |
ORPHA:66637 |
Keratoconus Posticus Circumscriptus |
|
Short neck, Limited elbow extension and supination, Abnormal vertebral segmentation and fusion |
OMIM:244600 |
Syndromic Diarrhea |
|
Lymphopenia, Splenomegaly, Hypoplasia of the thymus, Thrombocytosis, Abnormality of iron homeosta... |
ORPHA:84064 |
Thrombocytopenia 10 |
|
Decreased mean platelet volume, Thrombocytopenia |
OMIM:620484 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Lumbar hyperlordosis, Butterfly vertebrae, Vertebral fusion, Thoracic kyphoscoliosis, Scoliosis |
ORPHA:313892 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Macrothrombocytopenia, Thrombocytopenia, Decreased platelet glycoprotein Ib, Neutropenia |
OMIM:603585 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Decreased mean platelet volume, Lymphocytosis, Elevated circulating C-reactive protein concentrat... |
OMIM:617718 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormal reticulocyte morphology, Short neck, Hyperlordosis, Kyphosis, Fused cervical vertebrae |
ORPHA:2522 |
Kbg Syndrome |
|
Persistent open anterior fontanelle, Delayed skeletal maturation, Short neck, Vertebral fusion, S... |
ORPHA:2332 |
Christian Syndrome |
|
Fused cervical vertebrae, Scoliosis, Prominent metopic ridge, Thoracic hemivertebrae |
OMIM:309620 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Thrombocytopenia, Camptodactyly, Flexion contracture, Scoliosis, Increased mean platelet volume |
ORPHA:487796 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Cervical C2/C3 vertebral fusion, Short neck, Scoliosis, Fused cervical vertebrae |
OMIM:214300 |
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Fusion of midcervical facet joints, Widening of cervical spinal canal, Cervical vertebral bodies ... |
OMIM:606842 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Block vertebrae, Abnormal odontoid process morphology, Vertebral segmentation defect, Short neck,... |
OMIM:613686 |
Thrombocytopenia 5 |
|
Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,... |
OMIM:616216 |
Kniest Dysplasia |
|
Delayed epiphyseal ossification, Platyspondyly, Hypoplasia of the odontoid process, Vertebral wed... |
ORPHA:485 |
Otopalatodigital Syndrome Type 1 |
|
Synostosis of carpal bones, Limitation of joint mobility, Elbow dislocation, Increased bone miner... |
ORPHA:90650 |
Verheij Syndrome |
|
Joint hypermobility, Short neck, Hemivertebrae, Vertebral fusion, Scoliosis, Hip dislocation |
OMIM:615583 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Abnormal form of the vertebral bodies, Elbow dislocation, Hypoplastic vertebral bodies, Hemiverte... |
ORPHA:2916 |
Felty Syndrome |
|
Rheumatoid arthritis, Splenomegaly, Neutropenia |
OMIM:134750 |
Ring Chromosome 21 Syndrome |
|
Scoliosis, Fused thoracic vertebrae, Thoracic hemivertebrae |
ORPHA:1445 |
Multiple Pterygium Syndrome, X-Linked |
|
Joint dislocation, Increased susceptibility to fractures, Multiple pterygia, Vertebral fusion, Ab... |
OMIM:312150 |
Aarskog-Scott Syndrome |
|
Genu recurvatum, Camptodactyly of finger, Joint hypermobility, Abnormality of the cervical spine,... |
ORPHA:915 |
Multiple Pterygium Syndrome, Lethal Type |
|
Joint dislocation, Increased susceptibility to fractures, Multiple pterygia, Vertebral fusion, Ab... |
OMIM:253290 |
Hyperaldosteronism, Familial, Type I |
|
Hyperaldosteronism, Decreased circulating renin level |
OMIM:103900 |
Bleeding Disorder, Platelet-Type, 17 |
|
Increased RBC distribution width, Absence of alpha granules, Thrombocytopenia, Macrothrombocytope... |
OMIM:187900 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Abnormal reticulocyte morphology, Impaired platelet aggregation, Elliptocytosis, Macrocytic anemi... |
OMIM:300835 |
Wiskott-Aldrich Syndrome |
|
Decreased mean platelet volume, Decreased proportion of CD8-positive T cells, Lymphopenia, Decrea... |
OMIM:301000 |
Wildervanck Syndrome |
|
Fused cervical vertebrae |
OMIM:314600 |
Frontometaphyseal Dysplasia 1 |
|
Ankle flexion contracture, Partial fusion of tarsals, Interphalangeal joint contracture of finger... |
OMIM:305620 |
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Acetabular dysplasia, Cervical C2/C3 vertebral fusion, Short neck, Thoracolumbar scoliosis, Flexi... |
OMIM:616549 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Cervical C2/C3 vertebral fusion, Short neck, Scoliosis, Abnormal vertebral segmentation and fusion |
OMIM:118100 |
Familial Congenital Mirror Movements |
|
Fused cervical vertebrae |
ORPHA:238722 |
Spondylocarpotarsal Synostosis Syndrome |
|
Block vertebrae, Hypoplasia of the odontoid process, Delayed skeletal maturation, Carpal synostos... |
OMIM:272460 |
Alkaptonuria |
|
Limited hip movement, Intervertebral disk degeneration, Arthropathy, Low back pain, Limited shoul... |
OMIM:203500 |
Fanconi Anemia, Complementation Group I |
|
Short neck, Neutropenia, Fused cervical vertebrae |
OMIM:609053 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Osteopenia, Knee dislocation, Shoulder dislocation, Generalized joint hypermobility, Cervical C2/... |
OMIM:618000 |
Thrombocytopenia-Absent Radius Syndrome |
|
Hip dislocation, Aplasia/Hypoplasia of the patella, Thrombocytopenia, Patellar dislocation, Scoli... |
ORPHA:3320 |
Larsen Syndrome |
|
Spondylolysis, Cervical kyphosis, Hypoplastic cervical vertebrae, Elbow dislocation, Tracheomalac... |
OMIM:150250 |
Koolen-De Vries Syndrome |
|
Hip dislocation, Joint hypermobility, Vertebral segmentation defect, Vertebral fusion, Scoliosis,... |
ORPHA:96169 |
Lateral Meningocele Syndrome |
|
Sclerosis of skull base, Biconcave vertebral bodies, Joint hypermobility, Wormian bones, Short ne... |
OMIM:130720 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Reduced blood urea nitrogen, Decreased serum creatinine, Decreased circulating reni... |
OMIM:300539 |
Wildervanck Syndrome |
|
Short neck, Fused cervical vertebrae |
ORPHA:3456 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Intercrural pterygium, Dysplastic patella, Patellar aplasia, Short neck, Thoracolumbar scoliosis,... |
OMIM:265000 |
Fibrodysplasia Ossificans Progressiva |
|
Small cervical vertebral bodies, Ectopic ossification in ligament tissue, Progressive cervical ve... |
OMIM:135100 |
Lamb-Shaffer Syndrome |
|
Thoracic kyphosis, Scoliosis, Fused cervical vertebrae |
ORPHA:530983 |
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy |
|
Decreased circulating renin level |
OMIM:605115 |
Koolen-De Vries Syndrome |
|
Kyphosis, Spondylolisthesis, Joint hypermobility, Vertebral fusion, Scoliosis, Hip dislocation, S... |
OMIM:610443 |
Caudal Regression Syndrome |
|
Aplasia/Hypoplasia of the sacrum, Joint stiffness, Hypoplastic vertebral bodies, Scoliosis, Abnor... |
ORPHA:3027 |
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis |
|
Cervical C2/C3 vertebral fusion, Camptodactyly, Joint hypermobility |
OMIM:617333 |
Hyperaldosteronism, Familial, Type Iii |
|
Hyperaldosteronism, Hypokalemia, Decreased circulating renin level |
OMIM:613677 |
Liddle Syndrome 2 |
|
Hypokalemia, Decreased circulating renin level |
OMIM:618114 |
Liddle Syndrome 3 |
|
Hypokalemia, Decreased circulating renin level |
OMIM:618126 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Block vertebrae, Supernumerary vertebrae, Short neck, Hemivertebrae, Vertebral fusion, Scoliosis |
OMIM:271520 |
Chromosome 8Q22.1 Duplication Syndrome |
|
Genu recurvatum, Limitation of joint mobility, Interphalangeal joint contracture of finger, Joint... |
OMIM:151200 |
Ectopic Aldosterone-Producing Tumor |
|
Hypokalemia, Decreased circulating renin level, Glucocortocoid-insensitive primary hyperaldostero... |
ORPHA:231632 |
Liddle Syndrome 1 |
|
Hypokalemia, Decreased circulating renin level |
OMIM:177200 |
Stapes Ankylosis With Broad Thumbs And Toes |
|
Proximal/middle symphalangism of 5th finger, Fused cervical vertebrae |
OMIM:184460 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Hypokalemia, Decreased circulating renin level, Increased circulating cortisol level, Glucocortoc... |
ORPHA:231625 |
Pseudohypoaldosteronism, Type Iic |
|
Hyperchloremia, Hyperkalemia, Decreased circulating renin level |
OMIM:614492 |
Mosaic Trisomy 20 |
|
Spinal canal stenosis, Vertebral segmentation defect, Limited pronation/supination of forearm, Ve... |
ORPHA:1724 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Joint hypermobility, Short neck, Beaking of vertebral bodies, Vertebral fusion, Hemivertebrae, Cr... |
OMIM:213980 |
Apparent Mineralocorticoid Excess |
|
Hypokalemia, Decreased circulating renin level |
OMIM:218030 |
Apparent Mineralocorticoid Excess |
|
Hypokalemia, Abnormality of circulating cortisol level, Decreased circulating renin level |
ORPHA:320 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Hypoplastic sacrum, Delayed skeletal maturation, Delayed cranial suture closure, Thoracic hemiver... |
OMIM:268310 |
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Cervical C2/C3 vertebral fusion |
ORPHA:370010 |
Otopalatodigital Syndrome Type 2 |
|
Synostosis of carpal bones, Elbow dislocation, Camptodactyly of finger, Carpal synostosis, Increa... |
ORPHA:90652 |
Primary Unilateral Adrenal Hyperplasia |
|
Hypokalemia, Decreased circulating renin level, Glucocortocoid-insensitive primary hyperaldostero... |
ORPHA:231580 |
Gorlin Syndrome |
|
Abnormal vertebral morphology, Vertebral wedging, Hemivertebrae, Vertebral fusion, Scoliosis |
ORPHA:377 |
Shashi-Pena Syndrome |
|
Cervical C2/C3 vertebral fusion, Accelerated skeletal maturation, Osteoporosis, Scoliosis, Kyphosis |
OMIM:617190 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Lumbar scoliosis, Lumbar hyperlordosis, Cervical C2/C3 vertebral fusion |
OMIM:617796 |
Basal Cell Nevus Syndrome 1 |
|
Vertebral wedging, Kyphoscoliosis, Hemivertebrae, Irregular ossification of hand bones, Vertebral... |
OMIM:109400 |
Frontometaphyseal Dysplasia |
|
Joint contracture of the hand, Interphalangeal joint contracture of finger, Camptodactyly of fing... |
ORPHA:1826 |
Thrombocytopenia-Absent Radius Syndrome |
|
Carpal synostosis, Hepatosplenomegaly, Leukocytosis, Patellar aplasia, Carpal bone hypoplasia, Eo... |
OMIM:274000 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Hypokalemia, Primary hyperaldosteronism, Decreased circulating renin level |
OMIM:615474 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Vertebral fusion, Abnormal sacrum morphology, Abnormal form of the vertebral bodies, Vertebral se... |
ORPHA:3109 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Spina bifida occulta, Butterfly vertebrae, Fused cervical vertebrae |
OMIM:619227 |
Kbg Syndrome |
|
Delayed skeletal maturation, Short neck, Vertebral fusion, Vertebral arch anomaly, Thoracic kyphosis |
OMIM:148050 |
Simpson-Golabi-Behmel Syndrome |
|
Congenital hip dislocation, Polysplenia, Camptodactyly of finger, Splenomegaly, Vertebral segment... |
ORPHA:373 |
Myhre Syndrome |
|
Platyspondyly, Limitation of joint mobility, Joint stiffness, Enlarged vertebral pedicles, Short ... |
OMIM:139210 |
Microphthalmia, Syndromic 3 |
|
Vertebral fusion, Butterfly vertebrae, Hemivertebrae, Vertebral hypoplasia |
OMIM:206900 |
Sifrim-Hitz-Weiss Syndrome |
|
Wormian bones, Flat acetabular roof, Fused cervical vertebrae |
OMIM:617159 |
Duane Retraction Syndrome |
|
Abnormal form of the vertebral bodies, Short neck, Camptodactyly, Spina bifida occulta, Abnormal ... |
ORPHA:233 |
Arnold-Chiari Malformation Type I |
|
Stiff neck, Cervical C2/C3 vertebral fusion, Anteriorly placed odontoid process, Scoliosis, Fused... |
ORPHA:268882 |
Atelosteogenesis, Type I |
|
Elbow dislocation, Knee dislocation, Thoracic platyspondyly, Short neck, Vertebral hypoplasia, Co... |
OMIM:108720 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
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Hypokalemia, Decreased circulating cortisol level, Accelerated skeletal maturation, Decreased cir... |
ORPHA:90795 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
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Hypermobility of interphalangeal joints, Thoracic hemivertebrae, Thoracic kyphosis, Generalized j... |
ORPHA:508498 |
Apert Syndrome |
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Delayed epiphyseal ossification, Lambdoidal craniosynostosis, Coronal craniosynostosis, Synostosi... |
OMIM:101200 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
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Delayed skeletal maturation, Decreased circulating renin level, Hypokalemia, Decreased circulatin... |
ORPHA:90793 |
Wolf-Hirschhorn Syndrome |
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Accessory spleen, Hip dislocation, Abnormal form of the vertebral bodies, Delayed skeletal matura... |
OMIM:194190 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
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Hypokalemia, Elevated serum 11-deoxycortisol, Accelerated skeletal maturation, Decreased circulat... |
OMIM:202010 |
Faciodigitogenital Syndrome, Autosomal Recessive |
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Camptodactyly, Vertebral fusion, Hyperextensible hand joints |
OMIM:227330 |
Acro-Renal-Ocular Syndrome |
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Vertebral fusion, Vertebral segmentation defect |
ORPHA:959 |
Chops Syndrome |
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Cervical C2/C3 vertebral fusion, Tracheomalacia, Splenomegaly |
OMIM:616368 |
Duane-Radial Ray Syndrome |
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Spina bifida occulta, Shoulder dislocation, Scoliosis, Fused cervical vertebrae |
OMIM:607323 |
Aicardi Syndrome |
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Block vertebrae, Scoliosis, Butterfly vertebrae, Hemivertebrae |
OMIM:304050 |
Thakker-Donnai Syndrome |
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Cervical C2/C3 vertebral fusion, Short neck, Hemivertebrae |
ORPHA:1780 |
Aicardi Syndrome |
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Block vertebrae, Scoliosis, Butterfly vertebrae |
ORPHA:50 |
Heterotaxy, Visceral, 1, X-Linked |
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Congenital hip dislocation, Block vertebrae, Absence of the sacrum, Polysplenia, Asplenia |
OMIM:306955 |
Apert Syndrome |
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Cervical C5/C6 vertebrae fusion, Vertebral segmentation defect |
ORPHA:87 |
Frontometaphyseal Dysplasia 2 |
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Congenital hip dislocation, Elbow contracture, Hip contracture, Camptodactyly, Dislocated radial ... |
OMIM:617137 |
Robinow Syndrome |
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Hemivertebrae, Scoliosis, Kyphoscoliosis, Fused thoracic vertebrae |
ORPHA:97360 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
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Coronal craniosynostosis, Contracture of the distal interphalangeal joint of the fingers, B lymph... |
ORPHA:83617 |
Cardiospondylocarpofacial Syndrome |
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Delayed skeletal maturation, Fusion of middle ear ossicles, Carpal synostosis, Herniation of inte... |
OMIM:157800 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
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Joint contracture of the hand, Carpal synostosis, Humeroradial synostosis, Decreased circulating ... |
OMIM:201750 |
Chromosome 16P13.3 Duplication Syndrome |
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Cervical C5/C6 vertebrae fusion, Short neck, Camptodactyly, Tracheobronchomalacia, Hip dislocatio... |
OMIM:613458 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
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Abnormal vertebral morphology, Tracheomalacia, Cervical C2/C3 vertebral fusion, Wormian bones, Hi... |
ORPHA:444077 |
Generalized Arterial Calcification Of Infancy |
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Osteomalacia, Abnormal hip joint morphology, Hypophosphatemic rickets, Abnormal calcification of ... |
ORPHA:51608 |
Elsahy-Waters Syndrome |
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Cervical C2/C3 vertebral fusion |
OMIM:211380 |
Craniofacial Microsomia 1 |
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Block vertebrae, Genu valgum, Hemivertebrae, Scoliosis, Vertebral hypoplasia |
OMIM:164210 |
Holt-Oram Syndrome |
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Elbow dislocation, Limited elbow extension, Thoracic scoliosis, Cervical C2/C3 vertebral fusion, ... |
OMIM:142900 |
Desanto-Shinawi Syndrome |
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Short neck |
OMIM:616708 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
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ORPHA:284169 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
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ORPHA:466950 |