Granulomatous disease with defect in neutrophil chemotaxis |
|
Recurrent staphylococcal infections, Impaired neutrophil killing of staphylococci |
OMIM:233670 |
Immunodeficiency 34 |
|
Recurrent mycobacterial infections, Severe recurrent varicella |
OMIM:300645 |
Specific Granule Deficiency 1 |
|
Absent neutrophil lactoferrin, Recurrent bacterial infections, Hyposegmentation of neutrophil nuc... |
OMIM:245480 |
Immunodeficiency 30 |
|
Recurrent mycobacterial infections, Recurrent infections |
OMIM:614891 |
Immunodeficiency 28 |
|
Recurrent mycobacterial infections |
OMIM:614889 |
Neutrophil Actin Dysfunction |
|
Recurrent bacterial infections |
OMIM:257150 |
Ciliary Discoordination Due To Random Ciliary Orientation |
|
Recurrent infections |
OMIM:215518 |
Complement Component 7 Deficiency |
|
Recurrent meningococcal disease, Recurrent Neisserial infections |
OMIM:610102 |
Complement Factor D Deficiency |
|
Recurrent bacterial infections |
OMIM:613912 |
Immunodeficiency 86 |
|
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level |
OMIM:619549 |
Neutrophil Immunodeficiency Syndrome |
|
Abnormality of neutrophil physiology, Leukocytosis |
ORPHA:183707 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent protozoan infections, Recurrent viral infections, Recurrent bacterial infections |
OMIM:308220 |
Buschke-Ollendorff Syndrome |
|
Joint stiffness, Connective tissue nevi, Flexion contracture, Osteopoikilosis |
OMIM:166700 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Recurrent candida infections, Recurrent bacterial infections, Decreased circulating IgG level, T ... |
OMIM:242870 |
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Pedal edema, Increased bone mineral density |
ORPHA:75325 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... |
ORPHA:70592 |
Immunodeficiency, Common Variable, 5 |
|
Recurrent bacterial infections, Chronic decreased circulating total IgG, Recurrent respiratory in... |
OMIM:613495 |
Myelolymphatic Insufficiency |
|
Recurrent bacterial infections, Leukopenia, Hyposegmentation of neutrophil nuclei, Recurrent vira... |
OMIM:310350 |
Melorheostosis With Osteopoikilosis |
|
Abnormal cortical bone morphology, Multiple lipomas, Osteopoikilosis |
ORPHA:1879 |
Melorheostosis |
|
Failure to thrive, Joint stiffness, Increased bone mineral density, Arthritis, Lymphedema, Atypic... |
ORPHA:2485 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Neutropenia, Recurrent bacterial infections, Recurrent bronchitis, Recurrent otitis media, Agamma... |
OMIM:613501 |
Immunodeficiency 35 |
|
Recurrent mycobacterial infections, Recurrent fungal infections, Recurrent viral infections, Incr... |
OMIM:611521 |
Osteomesopyknosis |
|
Increased bone mineral density |
OMIM:166450 |
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
12q14 microdeletion syndrome |
|
Osteopoikilosis |
DECIPHER:76 |
Dentin Dysplasia |
|
Increased bone mineral density, Abnormal dental enamel morphology |
ORPHA:1653 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Decreased circulating IgA level, Recurrent upper and lower respiratory tract infections, Recurren... |
OMIM:605258 |
Immunodeficiency, Common Variable, 4 |
|
Decreased circulating IgG level, Decreased circulating total IgM, Recurrent bacterial infections,... |
OMIM:613494 |
Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Ectopic ossification, Increased bone mineral density |
OMIM:602475 |
Pyknoachondrogenesis |
|
Increased bone mineral density |
OMIM:265880 |
Immunodeficiency 31B |
|
Recurrent mycobacterial infections, Recurrent viral infections |
OMIM:613796 |
Mueller-Weiss Syndrome |
|
Joint stiffness, Edema of the dorsum of feet, Sclerosis of foot bone, Limitation of movement at a... |
ORPHA:566943 |
Osteochondrosis Of The Metatarsal Bone |
|
Joint stiffness, Sclerosis of foot bone, Thickened cortex of bones, Arthritis, Pedal edema |
ORPHA:564003 |
Osteomesopyknosis |
|
Abnormal cortical bone morphology, Increased bone mineral density |
ORPHA:2777 |
Isolated Osteopoikilosis |
|
Joint stiffness, Abnormal bone ossification, Sclerosis of foot bone, Increased bone mineral densi... |
ORPHA:166119 |
Dysplastic Cortical Hyperostosis |
|
Increased bone mineral density, Hydrops fetalis, Polyhydramnios, Abnormal cortical bone morpholog... |
ORPHA:2204 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati... |
OMIM:606843 |
Osteopoikilosis And Dacryocystitis |
|
Osteopoikilosis |
OMIM:166705 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Decreased circulating IgA level, Decreased circulating total IgM, Recurrent bacterial infections,... |
OMIM:613500 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Recurrent bacterial infections, Recurrent otitis media, Recurrent respiratory infections, Neutrop... |
OMIM:616022 |
Hyperostosis Corticalis Generalisata |
|
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis |
ORPHA:3416 |
Immunodeficiency 81 |
|
Impaired collagen-induced platelet aggregation, Abnormally low T cell receptor excision circle le... |
OMIM:619374 |
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis |
|
Cutaneous mastocytosis |
ORPHA:280794 |
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations |
|
Recurrent fungal infections, Lymphopenia, Recurrent bacterial infections, Neutropenia, Recurrent ... |
OMIM:614868 |
Immunodeficiency, Common Variable, 3 |
|
Decreased circulating IgA level, Reduced isohemagglutinin level, Decreased circulating total IgM,... |
OMIM:613493 |
Endosteal Hyperostosis, Worth Type |
|
Generalized osteosclerosis, Abnormal cortical bone morphology, Clavicular sclerosis, Craniofacial... |
ORPHA:2790 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Decreased circulating IgA level, Recurrent otitis media, Decreased circulating IgG level, Decreas... |
OMIM:613502 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Increased circulating antibody level, Acute monocytic leukemia, Eosinophilia, Monocytosis, Congen... |
OMIM:202700 |
Flynn-Aird Syndrome |
|
Increased bone density with cystic changes, Joint stiffness, Osteoporosis, Increased bone mineral... |
OMIM:136300 |
Van Buchem Disease |
|
Thickened cortex of long bones, Cranial hyperostosis, Increased bone mineral density |
OMIM:239100 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Decreased circulating IgA level, Recurrent upper and lower respiratory tract infections, Decrease... |
OMIM:608106 |
Melorheostosis, Isolated |
|
Increased bone mineral density, Hyperostosis |
OMIM:155950 |
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Increased bone mineral density, Craniosynostosis |
ORPHA:178377 |
Sclerosteosis |
|
Abnormal cortical bone morphology, Increased bone mineral density, Craniofacial hyperostosis |
ORPHA:3152 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Reduction of neutrophil motility, Bronchiolitis, Neutrophilia, Recurrent otitis media |
OMIM:266265 |
Pulmonary Edema Of Mountaineers, Susceptibility To |
|
Pulmonary edema, Edema |
OMIM:178400 |
Acute Lung Injury |
|
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... |
ORPHA:178320 |
Dacryocystitis-Osteopoikilosis Syndrome |
|
Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Neutrophilia, Leukocytosis, Abnormally low T cell receptor excision circle level, Impaired neutro... |
OMIM:608203 |
Adult Acute Respiratory Distress Syndrome |
|
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... |
ORPHA:70578 |
Axial Osteomalacia |
|
Elevated circulating creatine kinase concentration, Osteomalacia, Increased bone mineral density |
OMIM:109130 |
Osteopetrosis, Autosomal Dominant 1 |
|
Osteopetrosis, Calvarial osteosclerosis, Thickened cortex of long bones, Generalized osteosclerosis |
OMIM:607634 |
Body Mass Index Quantitative Trait Locus 20 |
|
Obesity, Increased bone mineral density |
OMIM:618406 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Recurrent bacterial skin infections, Splenomegaly, Recurrent Klebsiella infections, Recurrent Bur... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Recurrent bacterial skin infections, Splenomegaly, Recurrent Klebsiella infections, Recurrent Bur... |
OMIM:233710 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis |
OMIM:241520 |
Trichodentoosseous Syndrome |
|
Increased bone mineral density |
OMIM:190320 |
Cd8 Deficiency, Familial |
|
Recurrent viral infections, Recurrent bacterial infections, Recurrent respiratory infections |
OMIM:608957 |
Lymphatic Malformation 7 |
|
Pulmonary edema, Facial edema, Nonimmune hydrops fetalis, Lymphedema, Edema, Pericardial effusion |
OMIM:617300 |
Dentin Dysplasia With Sclerotic Bones |
|
Cortical sclerosis, Dentinogenesis imperfecta limited to primary teeth |
OMIM:125440 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Recurrent bacterial skin infections, Splenomegaly, Recurrent Klebsiella infections, Recurrent Bur... |
OMIM:233690 |
Osteopetrosis, Autosomal Dominant 2 |
|
Recurrent fractures, Mandibular osteomyelitis, Osteopetrosis, Fractures of the long bones, Hip os... |
OMIM:166600 |
Osteosclerosis With Ichthyosis And Fractures |
|
Recurrent fractures, Cortical thickening of long bone diaphyses, Increased bone mineral density |
OMIM:166740 |
Lethal Recessive Chondrodysplasia |
|
Polyhydramnios, Generalized osteosclerosis, Edema |
ORPHA:1423 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:612692 |
Chondrodysplasia, Blomstrand Type |
|
Advanced ossification of carpal bones, Hydrops fetalis, Polyhydramnios, Generalized osteosclerosi... |
OMIM:215045 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Abnormality of interleukin secretion, Increased circulating interleukin 6 concentration, Pulmonar... |
ORPHA:542323 |
Respiratory Distress Syndrome In Premature Infants |
|
Pulmonary edema, Edema |
OMIM:267450 |
Buschke-Ollendorff Syndrome |
|
Joint stiffness, Recurrent fractures, Flexion contracture, Craniosynostosis, Arthritis, Abnormal ... |
ORPHA:1306 |
Intermediate Osteopetrosis |
|
Recurrent fractures, Cortical sclerosis, Osteomyelitis, Osteosclerosis of the base of the skull, ... |
ORPHA:210110 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Cortical sclerosis, Craniofacial hyperostosis, Diaphyseal sclerosis, Craniofacial osteosclerosis |
OMIM:122860 |
Immunodeficiency 67 |
|
Recurrent streptococcal infections, Recurrent staphylococcal infections, Increased circulating Ig... |
OMIM:607676 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Recurrent otitis media, Partial absence of specific antibody response to Haemophilus influenzae t... |
OMIM:618986 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Metacarpal diaphyseal endosteal sclerosis, Metatarsal diaphyseal endosteal sclerosis, Clavicular ... |
OMIM:144750 |
Osteogenesis Imperfecta, Type Xiii |
|
Decreased body weight, Increased bone mineral density, Osteoporosis, Umbilical hernia, Joint hype... |
OMIM:614856 |
Schnitzler Syndrome |
|
Increased bone mineral density, Increased circulating IgM level, Arthritis |
ORPHA:37748 |
Vulvovaginal Gingival Syndrome |
|
Abnormality of tumor necrosis factor secretion |
ORPHA:83453 |
Wild Type Attr Amyloidosis |
|
Pulmonary edema, Abnormal pulmonary interstitial morphology, Pedal edema, Pleural effusion, Weigh... |
ORPHA:330001 |
Immunodeficiency, Common Variable, 13 |
|
Recurrent bacterial infections, B lymphocytopenia, Decreased circulating antibody level, Pancytop... |
OMIM:616873 |
Immune Deficiency Disease |
|
Recurrent bacterial infections, Fulminant hepatitis, Decreased circulating total IgM, Cholangitis... |
OMIM:242850 |
Cirrhotic Cardiomyopathy |
|
Pulmonary edema, Abnormal A-type atrial natriuretic peptide level, Increased circulating NT-proBN... |
ORPHA:57777 |
Osteosclerotic Metaphyseal Dysplasia |
|
Clavicular sclerosis |
OMIM:615198 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Onychomycosis, Lymphopenia, Splenomegaly, Recurrent tonsillitis, Hepatosplenomegaly, Abscess, Hem... |
OMIM:618935 |
Macrophage Activation Syndrome |
|
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... |
ORPHA:158061 |
Infant Acute Respiratory Distress Syndrome |
|
Respiratory tract infection, Pulmonary edema, Pneumonia |
ORPHA:70587 |
Pulmonary Capillary Hemangiomatosis |
|
Interlobular septal thickening, Pulmonary edema, Hemothorax, Pericardial effusion, Pedal edema, P... |
ORPHA:199241 |
Necrobiosis Lipoidica |
|
Abnormality of neutrophil physiology, Granuloma |
ORPHA:542592 |
X-Linked Severe Congenital Neutropenia |
|
Recurrent bacterial infections, Monocytopenia, Neutropenia |
ORPHA:86788 |
Osteopetrosis, Autosomal Recessive 6 |
|
Osteopetrosis |
OMIM:611497 |
Adult Idiopathic Neutropenia |
|
Recurrent fungal infections, Lymphopenia, Recurrent bacterial infections, Monocytosis, Helicobact... |
ORPHA:2688 |
Granulomatous Disease, Chronic, X-Linked |
|
Recurrent bacterial skin infections, Splenomegaly, Recurrent Klebsiella infections, Recurrent Bur... |
OMIM:306400 |
Distal Osteosclerosis |
|
Diaphyseal sclerosis, Hyperostosis, Craniofacial osteosclerosis |
OMIM:126250 |
Systemic Capillary Leak Syndrome |
|
Weight loss, Pedal edema, Pulmonary edema, Pleural effusion |
ORPHA:188 |
Mogs-Cdg |
|
Decreased circulating IgA level, Decreased circulating IgG level, Pulmonary edema, Decreased circ... |
ORPHA:79330 |
Gaucher Disease Type 1 |
|
Increased circulating antibody level, Increased bone mineral density, Osteopenia, Osteoarthritis,... |
ORPHA:77259 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Recurrent mycobacterial infections, Recurrent gastroenteritis, Recurrent upper and lower respirat... |
ORPHA:275 |
Majeed Syndrome |
|
Failure to thrive, Osteomyelitis, Increased bone mineral density, Flexion contracture, Cachexia, ... |
ORPHA:77297 |
Chediak-Higashi Syndrome |
|
Recurrent bacterial skin infections, Hemophagocytosis, Splenomegaly, Abnormal dense granules, Leu... |
OMIM:214500 |
Ovarian Hyperstimulation Syndrome |
|
Pulmonary edema, Peripheral edema, Pleural effusion, Generalized edema, Ascites |
ORPHA:64739 |
Sweet Syndrome |
|
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... |
ORPHA:3243 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Nonspherocytic hemolytic anemia, Spontaneous hemolytic crises, Impaired neutrophil bactericidal a... |
OMIM:613470 |
Poems Syndrome |
|
Increased circulating antibody level, Sclerosis of skull base, Sclerosis of foot bone, Lipodystro... |
ORPHA:2905 |
Osteopetrosis And Infantile Neuroaxonal Dystrophy |
|
Osteopetrosis |
OMIM:600329 |
Dysosteosclerosis |
|
Recurrent fractures, Craniofacial hyperostosis, Increased bone mineral density, Coarse metaphysea... |
ORPHA:1782 |
Osteopetrosis, Autosomal Recessive 1 |
|
Failure to thrive, Osteomyelitis, Increased bone mineral density, Craniosynostosis, Osteopetrosis... |
OMIM:259700 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... |
ORPHA:540 |
Indolent Systemic Mastocytosis |
|
Increased proportion of CD25+ mast cells, Abnormal mast cell morphology, Splenomegaly, Mastocytosis |
ORPHA:98848 |
Ghosal Hematodiaphyseal Dysplasia |
|
Myelofibrosis, Hyperostosis cranialis interna, Increased bone mineral density |
OMIM:231095 |
Spondyloepiphyseal Dysplasia Tarda |
|
Failure to thrive, Joint swelling, Increased bone mineral density, Abnormally ossified vertebrae,... |
ORPHA:93284 |
Diastrophic Dysplasia |
|
Joint stiffness, Increased bone mineral density, Camptodactyly of finger, Joint hyperflexibility,... |
ORPHA:628 |
Otopalatodigital Syndrome Type 1 |
|
Abnormal vertebral segmentation and fusion, Limitation of joint mobility, Synostosis of carpal bo... |
ORPHA:90650 |
Paget Disease Of Bone 3 |
|
Patchy osteosclerosis, Osteolysis, Fractures of the long bones |
OMIM:167250 |
Japanese Encephalitis |
|
Increased circulating antibody level, Pulmonary edema, Elbow flexion contracture, Increased circu... |
ORPHA:79139 |
Chédiak-Higashi Syndrome |
|
Abnormal leukocyte morphology, Recurrent bacterial skin infections, Neutropenia, Vacuolated lymph... |
ORPHA:167 |
Osteopetrosis, Autosomal Recessive 8 |
|
Osteopetrosis, Failure to thrive |
OMIM:615085 |
Familial Isolated Restrictive Cardiomyopathy |
|
Peripheral edema, Pulmonary edema, Recurrent respiratory infections |
ORPHA:75249 |
Albers-Schönberg Osteopetrosis |
|
Recurrent fractures, Mandibular osteomyelitis, Osteomyelitis, Osteoarthritis, Arthritis, Generali... |
ORPHA:53 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Failure to thrive, Recurrent fractures, Increased bone mineral density, Osteopenia, Osteoporosis,... |
OMIM:239000 |
Mastocytosis, Cutaneous |
|
Cutaneous mastocytosis |
OMIM:154800 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent otitis media, Recurrent bacterial infections, B lymphocytopenia, Panhypogammaglobulinem... |
OMIM:601495 |
Tricho-Dento-Osseous Syndrome |
|
Enamel hypomineralization, Dental enamel pits, Increased bone mineral density |
ORPHA:3352 |
Osteopetrosis, Autosomal Recessive 2 |
|
Recurrent fractures, Mandibular osteomyelitis, Osteomyelitis, Diaphyseal sclerosis, Osteopetrosis... |
OMIM:259710 |
Mast Cell Sarcoma |
|
Splenomegaly, Mastocytosis |
ORPHA:66661 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Increased bone mineral density, Osteopenia, Thin bony cortex, Sclerosis of proximal finger phalan... |
ORPHA:85188 |
Werner Syndrome |
|
Slender build, Joint stiffness, Lipoatrophy, Increased bone mineral density, Chondrocalcinosis, N... |
ORPHA:902 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Abnormal bone ossification, Increased bone mineral density, Delayed patellar ossification |
ORPHA:163649 |
Tako-Tsubo Cardiomyopathy |
|
Abnormal B-type natriuretic peptide level, Obesity, Pulmonary edema, Mildly elevated creatine kinase |
ORPHA:66529 |
Craniometaphyseal Dysplasia |
|
Osteopetrosis, Craniofacial hyperostosis |
ORPHA:1522 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ascites, Pulmonary edema, Pericardial effusion |
OMIM:115197 |
Hellp Syndrome |
|
Generalized edema, Increased body weight, Pulmonary edema, Pleural effusion |
ORPHA:244242 |
Gaucher Disease Type 3 |
|
Increased circulating antibody level, Increased bone mineral density, Hydrops fetalis, Abnormal p... |
ORPHA:77261 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Ascites, Pulmonary edema |
OMIM:261740 |
Pseudohypoparathyroidism Type 1B |
|
Enamel hypoplasia, Increased bone density with cystic changes, Diaphyseal sclerosis, Increased bo... |
ORPHA:94089 |
Camurati-Engelmann Disease |
|
Slender build, Reduced subcutaneous adipose tissue, Sclerosis of skull base, Cortical thickening ... |
OMIM:131300 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Increased bone mineral density, Thin bony cortex |
ORPHA:85184 |
Osteopetrosis, Autosomal Recessive 4 |
|
Osteopetrosis, Recurrent fractures |
OMIM:611490 |
Hemorrhagic Fever-Renal Syndrome |
|
Increased circulating interleukin 6 concentration, Decreased body weight, Pulmonary edema, Pleura... |
ORPHA:340 |
Cocaine Intoxication |
|
Pneumothorax, Diffuse alveolar hemorrhage, Elevated circulating creatine kinase concentration, Pu... |
ORPHA:90068 |
Beemer-Ertbruggen Syndrome |
|
Increased bone mineral density |
ORPHA:1237 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Osteomyelitis leading to amputation due to slow healing fractures, Diaphyseal cortical sclerosis,... |
OMIM:112250 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Osteopetrosis, Coarse metaphyseal trabecularization, Increased bone mineral density, Facial hyper... |
ORPHA:2780 |
Ethylene Glycol Poisoning |
|
Pulmonary edema, Cerebral edema |
ORPHA:31826 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Osteopetrosis, Polyhydramnios |
OMIM:618541 |
Pycnodysostosis |
|
Increased bone mineral density, Coronal craniosynostosis, Enamel hypoplasia, Generalized osteoscl... |
ORPHA:763 |
Aggressive Systemic Mastocytosis |
|
Neutropenia, Abnormal mast cell morphology, Leukocytosis, Hepatosplenomegaly, Thrombocytopenia, I... |
ORPHA:98850 |
Ogden Syndrome |
|
Peripheral pulmonary artery stenosis, Pulmonary edema, Inguinal hernia, Lymphedema, Pulmonary hyp... |
OMIM:300855 |
Gaucher Disease |
|
Increased circulating antibody level, Joint stiffness, Osteomyelitis, Elevated circulating C-reac... |
ORPHA:355 |
Scorpion Envenomation |
|
Edema, Increased circulating NT-proBNP concentration, Pulmonary edema, Increased circulating crea... |
ORPHA:466677 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Osteopetrosis |
OMIM:617306 |
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Absent ossification of thoracic vertebral bodies, Absent ossification of cervical vertebral bodie... |
OMIM:601376 |
Erdheim-Chester Disease |
|
Joint swelling, Osteomyelitis, Increased bone mineral density, Abnormal pulmonary interstitial mo... |
ORPHA:35687 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Rickets of the lower limbs, Pseudo-fractures, Hypophosphatemic rickets, Increased bone mineral de... |
ORPHA:289176 |
Leukocyte Adhesion Deficiency |
|
Recurrent fungal infections, Abnormality of neutrophil physiology, Chronic oral candidiasis, Leuk... |
ORPHA:2968 |
Dysosteosclerosis |
|
Sclerosis of skull base, Osteopenia, Clavicular sclerosis, Sclerotic scapulae, Increased suscepti... |
OMIM:224300 |
Osteopetrosis, Autosomal Recessive 7 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Osteopetrosis, Decreased circul... |
OMIM:612301 |
Psoriasis-Related Juvenile Idiopathic Arthritis |
|
Abnormality of tumor necrosis factor secretion, Iridocyclitis, Oligoarthritis, Skin rash, Iritis,... |
ORPHA:85436 |
Focal Facial Dermal Dysplasia Type Iv |
|
Abnormal mast cell morphology |
ORPHA:398189 |
X-Linked Lymphoproliferative Disease |
|
Hemophagocytosis, Aplastic anemia, B lymphocytopenia, Increased proportion of CD25+ mast cells, P... |
ORPHA:2442 |
Autoimmune Hypoparathyroidism |
|
Increased bone mineral density |
ORPHA:36913 |
Desmosterolosis |
|
Osteopetrosis, Failure to thrive, Anomalous pulmonary venous return, Increased bone mineral density |
ORPHA:35107 |
Liver Disease, Severe Congenital |
|
Increased circulating ferritin concentration, Failure to thrive, Pulmonary edema, Hypoproteinemia... |
OMIM:619991 |
Trichothiodystrophy |
|
Multiple joint contractures, Recurrent bronchopulmonary infections, Increased bone mineral densit... |
ORPHA:33364 |
Absence Of The Pulmonary Artery |
|
Pulmonary edema, Pedal edema, Pulmonary hypoplasia, Recurrent pneumonia, Bronchiectasis, Recurren... |
ORPHA:980 |
Dysostosis, Stanescu Type |
|
Abnormal dental enamel morphology, Increased bone mineral density, Massively thickened long bone ... |
ORPHA:1798 |
Otopalatodigital Syndrome Type 2 |
|
Failure to thrive, Carpal synostosis, Increased bone mineral density, Abnormal vertebral segmenta... |
ORPHA:90652 |
Osteopetrosis, Autosomal Recessive 5 |
|
Increased bone mineral density, Decreased osteoclast count, Osteopetrosis, Ascites, Cranial hyper... |
OMIM:259720 |
Histiocytoid Cardiomyopathy |
|
Failure to thrive, Pulmonary edema |
ORPHA:137675 |
Schwartz-Jampel Syndrome |
|
Hip contracture, Joint stiffness, Decreased body weight, Increased bone mineral density, Inguinal... |
ORPHA:800 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Abnormal mast cell morphology, Neutrophilia, Leukocytosis, Splenomegaly, Myeloproliferative disor... |
ORPHA:98849 |
Bullous Diffuse Cutaneous Mastocytosis |
|
Cutaneous mastocytosis |
ORPHA:280785 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Osteopetrosis |
OMIM:612840 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Increased bone mineral density, Inguinal hernia, Elbow ankylosis, Osteopetrosis, Joint hyperflexi... |
ORPHA:2658 |
X-Linked Hypophosphatemia |
|
Cellulitis, Reduced bone mineral density, Craniosynostosis, Arthritis, Vertebral hyperostosis, Ge... |
ORPHA:89936 |
Infection-Related Hemolytic Uremic Syndrome |
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Increased circulating interleukin 6 concentration, Acute colitis, Pancreatitis, Severe infection,... |
ORPHA:544482 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
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Pulmonary edema, Pericardial effusion |
ORPHA:73224 |
Desmosterolosis |
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Failure to thrive, Joint contracture of the hand, Generalized osteosclerosis, Total anomalous pul... |
OMIM:602398 |
Hyperoxaluria, Primary, Type I |
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Dehydration, Increased bone mineral density, Pathologic fracture |
OMIM:259900 |
Raine Syndrome |
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Increased bone mineral density, Enamel hypoplasia, Pulmonary hypoplasia, Arthrogryposis multiplex... |
OMIM:259775 |
Blomstrand Lethal Chondrodysplasia |
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Increased bone mineral density, Hydrops fetalis, Synostosis of joints, Polyhydramnios, Pulmonary ... |
ORPHA:50945 |
12Q14 Microdeletion Syndrome |
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Failure to thrive, Osteopoikilosis |
ORPHA:94063 |
Truncus Arteriosus |
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Pulmonary edema, Anomalous origin of one pulmonary artery from ascending aorta, Pulmonary artery ... |
ORPHA:3384 |
Osteopetrosis, Autosomal Recessive 3 |
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Osteopetrosis, Diaphyseal sclerosis, Cranial hyperostosis |
OMIM:259730 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
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Osteopetrosis |
OMIM:618476 |
Pycnodysostosis |
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Osteolytic defects of the distal phalanges of the hand, Increased bone mineral density |
OMIM:265800 |
Atypical Werner Syndrome |
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Failure to thrive, Decreased body weight, Lipoatrophy, Increased bone mineral density, Reduced bo... |
ORPHA:79474 |
Kenny-Caffey Syndrome, Type 2 |
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Thickened cortex of long bones, Increased bone mineral density, Small for gestational age |
OMIM:127000 |
Shwachman-Diamond Syndrome |
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Increased mean corpuscular volume, Neutropenia, Leukopenia, Sepsis, Aplastic anemia, Normocytic a... |
ORPHA:811 |
Sanjad-Sakati Syndrome |
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Patchy osteosclerosis, Recurrent respiratory infections, Abnormal dental enamel morphology |
ORPHA:2323 |
Pseudohypoparathyroidism Type 1A |
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Increased bone mineral density, Reduced bone mineral density, Ectopic ossification, Hyperostosis ... |
ORPHA:79443 |
Pseudohypoparathyroidism Type 1C |
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Enamel hypoplasia, Ectopic ossification, Obesity, Increased bone mineral density |
ORPHA:79444 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
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Patchy osteosclerosis |
OMIM:241410 |
Cleidocranial Dysplasia 1 |
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Enamel hypoplasia, Delayed pubic bone ossification, Increased bone mineral density, Increased sus... |
OMIM:119600 |
Osteopetrosis With Renal Tubular Acidosis |
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Failure to thrive, Recurrent fractures, Osteopetrosis, Elevated circulating creatine kinase conce... |
ORPHA:2785 |
Primary Hyperoxaluria |
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Recurrent fractures, Failure to thrive, Generalized osteosclerosis |
ORPHA:416 |
Mastocytosis |
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Chronic leukemia, Acute leukemia, Splenomegaly, Mastocytosis |
ORPHA:98292 |
Autosomal Recessive Malignant Osteopetrosis |
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Recurrent fractures, Reduced bone mineral density, Osteopetrosis, Craniosynostosis, Pulmonary art... |
ORPHA:667 |
Williams Syndrome |
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Joint stiffness, Peripheral pulmonary artery stenosis, Increased bone mineral density, Inguinal h... |
ORPHA:904 |
Ectodermal Dysplasia And Immunodeficiency 2 |
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Defective production of NFKB1-dependent cytokines |
OMIM:612132 |
Sclerosteosis 1 |
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Cortically dense long tubular bones, Facial palsy secondary to cranial hyperostosis, Sclerotic sc... |
OMIM:269500 |
Aregenerative Anemia |
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Abnormality of interleukin secretion |
ORPHA:101096 |
Hennekam-Beemer Syndrome |
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Mastocytosis |
ORPHA:2135 |
Say-Barber-Miller Syndrome |
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Transient hypogammaglobulinemia of infancy, Decreased circulating IgG level, Impaired neutrophil ... |
ORPHA:3132 |
Parenteral Nutrition-Associated Cholestasis |
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Abnormality of cytokine secretion |
ORPHA:567983 |
Schinzel-Giedion Midface Retraction Syndrome |
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Increased density of long bones, Sclerosis of skull base, Failure to thrive, Thickened cortex of ... |
OMIM:269150 |
Pmm2-Cdg |
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Impaired neutrophil chemotaxis |
ORPHA:79318 |