Osteopetrosis, Autosomal Recessive 6 |
|
Dense metaphyseal bands, Osteopetrosis, Erlenmeyer flask deformity of the femurs, Cortical sclero... |
OMIM:611497 |
Intermittent Hydrarthrosis |
|
Abnormality of the knee, Knee joint hypermobility, Joint swelling, Chondrocalcinosis |
ORPHA:329967 |
Popliteal Cyst |
|
Abnormality of the knee, Joint swelling |
OMIM:175750 |
Blount Disease, Infantile |
|
Genu varum, Abnormality of the proximal tibial epiphysis |
OMIM:188700 |
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
|
Increased circulating interleukin 6 concentration, Recurrent skin infections, Increased circulati... |
OMIM:618944 |
Drug Metabolism, Poor, Cyp2D6-Related |
|
Neoplasm |
OMIM:608902 |
Adamantinoma Of Long Bones |
|
Neoplasm |
OMIM:102660 |
Cancer, Familial, With In Vitro Radioresistance |
|
Neoplasm |
OMIM:114450 |
Multiple Self-Healing Squamous Epithelioma, Susceptibility To |
|
Neoplasm |
OMIM:132800 |
Nasopharyngeal Carcinoma, Susceptibility To, 2 |
|
Neoplasm |
OMIM:161550 |
Sinding-Larsen-Johansson Disease |
|
Painless fractures due to injury, Joint swelling, Osteochondrosis, Limitation of knee mobility |
ORPHA:97337 |
Panner Disease |
|
Limited elbow movement, Abnormality of upper limb joint, Irregular articular surfaces of the elbo... |
ORPHA:97336 |
Rhizomelic Chondrodysplasia Punctata, Type 3 |
|
Epiphyseal stippling, Short femur, Rhizomelia, Short humerus |
OMIM:600121 |
Familial Calcium Pyrophosphate Deposition |
|
Joint dislocation, Osteoarthritis, Limitation of joint mobility, Arthritis, Joint swelling, Chond... |
ORPHA:1416 |
Syndactyly Type 4 |
|
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Limitation of join... |
ORPHA:93405 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication |
OMIM:188740 |
Immunodeficiency 15B |
|
Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Recurrent infections, Decr... |
OMIM:615592 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Recurrent bacter... |
OMIM:202700 |
Histiocytosis, Familial Lipochrome |
|
Increased alpha-globulin, Recurrent infections, Increased circulating antibody level, Histiocytosis |
OMIM:235900 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Increased circulating IgE level, Herpes simplex encephalitis, Bronchiectasis, Hepatosplenomegaly,... |
OMIM:618982 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb undergrowth, Short ... |
OMIM:118651 |
Eiken Syndrome |
|
Short palm, Abnormal trabecular bone morphology, Epiphyseal dysplasia, Abnormal acetabulum morpho... |
ORPHA:79106 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Recurrent respiratory infections, Autoimmune thrombocytopenia, Sp... |
OMIM:614470 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Recurrent pneumonia, Decreased ... |
OMIM:619281 |
Osteochondrosis Of The Metatarsal Bone |
|
Flattened metatarsal heads, Abnormality of the fifth metatarsal bone, Sclerosis of foot bone, Abn... |
ORPHA:564003 |
Osteopetrosis, Autosomal Dominant 1 |
|
Generalized osteosclerosis, Abnormal pelvic girdle bone morphology, Osteopetrosis, Calvarial oste... |
OMIM:607634 |
Complement Component C1R/C1S Deficiency |
|
Autoimmunity, Discoid lupus rash, Arthritis, Nephritis, Recurrent bronchitis |
OMIM:216950 |
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis |
|
Osteopenia, Symmetric polyarthritis, Rheumatoid factor positive, Limitation of joint mobility, Sy... |
ORPHA:85435 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Increased circulating IgE level, Hypereosinophilia, Chronic oral candidias... |
OMIM:212050 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia |
OMIM:246570 |
Immunodeficiency 89 And Autoimmunity |
|
Pulmonary bulla, Reduced circulating interleukin 17A concentration, Reduced circulating interleuk... |
OMIM:619632 |
Mueller-Weiss Syndrome |
|
Limitation of movement at ankles, Pes planus, Edema of the dorsum of feet, Sclerosis of foot bone... |
ORPHA:566943 |
Rhizomelic Dysplasia, Ain-Naz Type |
|
Short humerus, Short femur, Hypoplasia of the femoral head, Rhizomelia, Wide distal femoral metap... |
OMIM:619598 |
Tibial Hemimelia |
|
Absent tibia |
OMIM:275220 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Lymphopenia, Chronic oral candidiasis, Eosinophilia, Pneumonia, Recurrent pneumonia, Hepatitis, E... |
ORPHA:169160 |
Gollop-Wolfgang Complex |
|
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... |
ORPHA:1986 |
Chondrocalcinosis 2 |
|
Arthropathy, Polyarticular chondrocalcinosis, Osteoarthritis |
OMIM:118600 |
Osteochondritis Dissecans |
|
Abnormality of the knee, Decreased hip abduction, Joint stiffness, Abnormal joint morphology, Lim... |
ORPHA:2764 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Pneumonia, Eosinophilia, Asthma, Increased circulating IgE level, Atopic dermatitis, Bronchiectas... |
OMIM:617638 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Inflammatory abnormality of the skin, Sinusitis, Recurrent opportunistic infections, Increased ci... |
ORPHA:277 |
Osteosclerotic Metaphyseal Dysplasia |
|
Dense metaphyseal bands, Metaphyseal dysplasia, Increased bone mineral density, Clavicular sclerosis |
OMIM:615198 |
Tibial Torsion, Bilateral Medial |
|
Bowing of the legs, Tibial torsion |
OMIM:188800 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Recurrent bacterial skin infections, Recurrent respiratory infections, Pneumonia, Recurrent viral... |
ORPHA:217390 |
Pacman Dysplasia |
|
Epiphyseal stippling, Bowing of the long bones |
OMIM:167220 |
Osteoarthritis Susceptibility 3 |
|
Osteoarthritis, Osteoarthritis of the distal interphalangeal joint, Joint stiffness, Osteoarthrit... |
OMIM:607850 |
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type |
|
Short tibia, Hypoplasia of the radius, Pseudoarthrosis |
OMIM:156230 |
Talo-Patello-Scaphoid Osteolysis |
|
Osteolysis of talus, Enlarged joints, Osteolysis of scaphoids, Synovitis, Osteolysis of patellae |
ORPHA:50809 |
Immunodeficiency 24 |
|
Decreased circulating IgG level, Lymphopenia, Decreased CD4:CD8 ratio, Respiratory tract infectio... |
OMIM:615897 |
Glycoprotein Storage Disease |
|
Gout |
OMIM:232900 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Recurrent viral infections, Recurrent candida infections, Increased circulating IgG level, T lymp... |
ORPHA:169154 |
Adult Idiopathic Neutropenia |
|
Helicobacter pylori infection, Abnormal neutrophil count, Recurrent infections, Increased circula... |
ORPHA:2688 |
Tenosynovial Giant Cell Tumor |
|
Abnormality of the knee, Lymphedema, Joint stiffness, Polyarticular arthropathy, Abnormality of t... |
ORPHA:66627 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Recurrent sinopulmonary infections, Eosinophilia, Eosinophilic infiltration of the esophagus, Ecz... |
OMIM:243700 |
Immunodeficiency 25 |
|
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating... |
OMIM:610163 |
Osteopetrosis, Autosomal Dominant 2 |
|
Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle... |
OMIM:166600 |
Immunodeficiency 32B |
|
Recurrent respiratory infections, Neutrophilia, Sinusitis, Eosinophilia, Pneumonia, Thrombocytope... |
OMIM:226990 |
Cranio-Osteoarthropathy |
|
Abnormality of the knee, Eczema, Joint stiffness, Osteoarthritis, Joint swelling, Arthritis |
ORPHA:1525 |
Immunodeficiency, Common Variable, 11 |
|
Recurrent respiratory infections, Increased circulating IgE level, Decreased proportion of class-... |
OMIM:615767 |
Congenital Atransferrinemia |
|
Arthritis, Recurrent infections |
ORPHA:1195 |
Immunodeficiency 11A |
|
Recurrent respiratory infections, Decreased proportion of CD4+CD25+ regulatory T cells, Decreased... |
OMIM:615206 |
Acromesomelic Dysplasia 2A |
|
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... |
OMIM:200700 |
Acromesomelic Dysplasia 2C |
|
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida... |
OMIM:201250 |
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome |
|
Osteopathia striata, Abnormal pelvic girdle bone morphology, Abnormal diaphysis morphology, Abnor... |
ORPHA:2779 |
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals |
|
Osteolysis of talus, Osteolysis of scaphoids, Osteolysis of patellae, Synovitis |
OMIM:609655 |
Hypoplastic Femurs And Pelvis |
|
Short femur, Hypoplastic pelvis |
OMIM:619545 |
Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, Skin rash, Pneumonia, Reduced natural... |
OMIM:300400 |
Immunodeficiency 51 |
|
Recurrent respiratory infections, Recurrent skin infections, Pneumonia, Eczema, Abnormal lymphocy... |
OMIM:613953 |
Blount Disease |
|
Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis... |
ORPHA:2768 |
Ribbing Disease |
|
Diaphyseal sclerosis |
OMIM:601477 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Bulging epiphyses, Bowing of the long bones, Delayed epiphyseal ossification, Rickets, Genu varum... |
OMIM:600785 |
Chondrocalcinosis 1 |
|
Osteoarthritis, Chondrocalcinosis |
OMIM:600668 |
Metaphyseal Dysplasia Without Hypotrichosis |
|
Joint laxity, Metaphyseal dysplasia, Short metacarpal, Cone-shaped epiphyses of the phalanges of ... |
OMIM:250460 |
Acromesomelic Dysplasia, Grebe Type |
|
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... |
ORPHA:2098 |
Combined Immunodeficiency, X-Linked |
|
Sinusitis, Pneumonia, Decreased proportion of CD8-positive T cells, Otitis media, Decreased propo... |
OMIM:312863 |
Osteoarthritis Susceptibility 2 |
|
Osteoarthritis, Heberden's node |
OMIM:140600 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... |
OMIM:606843 |
Immunodeficiency 35 |
|
Recurrent respiratory infections, Recurrent viral infections, Recurrent mycobacterial infections,... |
OMIM:611521 |
Immunodeficiency 95 |
|
Respiratory distress, Recurrent respiratory infections, Decreased circulating IgG3 level, Recurre... |
OMIM:619773 |
Osebold-Remondini Syndrome |
|
Decreased finger mobility, Broad toe, Dysplastic distal radial epiphyses, Hypoplasia of the ulna,... |
OMIM:112910 |
Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig... |
OMIM:619802 |
Craniometaphyseal Dysplasia |
|
Craniofacial hyperostosis, Abnormal metaphysis morphology, Osteopetrosis |
ORPHA:1522 |
Autoimmune Disease |
|
Autoimmune antibody positivity, Autoimmunity |
OMIM:109100 |
Osteosclerosis With Ichthyosis And Fractures |
|
Increased bone mineral density, Recurrent fractures, Femoral bowing, Tibial bowing, Cortical thic... |
OMIM:166740 |
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Recurrent respiratory infections, Eczema, Eosinophilia, Keratitis, Increased circulating IgE leve... |
OMIM:618523 |
Epiphyseal Dysplasia, Multiple, 5 |
|
Epiphyseal dysplasia, Short metacarpal, Premature osteoarthritis, Coxa vara, Genu valgum, Irregul... |
OMIM:607078 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Recurrent sinopulmonary infections, Skin rash, Eosinophilia, Increased circulating IgE level, Rec... |
OMIM:147060 |
Hyperostosis Corticalis Generalisata |
|
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis, Diaphyseal t... |
ORPHA:3416 |
Osteochondrosis Of The Tarsal Bone |
|
Pedal edema, Arthritis, Tarsal sclerosis, Tarsal stippling, Chondritis, Abnormal tarsal ossificat... |
ORPHA:563991 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Lymphopenia, Recurrent skin infections, Asthma, Increased circulating IgE level, Recurrent upper ... |
OMIM:619752 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal T cell count, Recurrent viral infections, Lymphadenitis, Decreased proportion of CD3-pos... |
ORPHA:331206 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Recurrent respiratory infections, Recurrent sinopulmonary infections, Recurrent ear infections, S... |
OMIM:615513 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Recurrent respiratory infections, Osteomyelitis, Recurrent skin infections, Eosinophilia, Eczema,... |
OMIM:618282 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Scleros... |
ORPHA:85188 |
Fibular Hemimelia |
|
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... |
ORPHA:93323 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Eczema, Abnormal immunoglobulin level, Recurrent mycobacterial infections, Increased T cell count... |
ORPHA:98813 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Autoimmune hemolytic anemia, Pneumonia, Glomerulonephritis, Plasmacytosis, Increased circulating ... |
OMIM:247800 |
Immunodeficiency 18 |
|
Recurrent respiratory infections, Defective T cell proliferation, Recurrent gastroenteritis, Recu... |
OMIM:615615 |
Multiple Epiphyseal Dysplasia Type 1 |
|
Brachydactyly, Abnormal acetabulum morphology, Joint stiffness, Avascular necrosis of the capital... |
ORPHA:93308 |
Sclerosteosis |
|
Craniofacial hyperostosis, Increased bone mineral density, Finger syndactyly, 2-3 finger syndacty... |
ORPHA:3152 |
Langer Mesomelic Dysplasia |
|
Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Short femoral neck... |
OMIM:249700 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Eczema, Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Bronchioli... |
OMIM:617241 |
Kienbock Disease |
|
Osteoarthritis, Limitation of joint mobility, Osteochondritis dissecans, Abnormality of the wrist |
ORPHA:97332 |
Immunodeficiency 48 |
|
Recurrent respiratory infections, Pneumonia, Absence of CD8-positive T cells, Splenomegaly, Recur... |
OMIM:269840 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Decreased circulating total IgM, Lymphocytosis, Recurrent infections |
OMIM:606445 |
Acheiropody |
|
Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t... |
OMIM:200500 |
Immunodeficiency 50 |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Eczema, Decreased circulati... |
OMIM:300988 |
Developmental Dysplasia Of The Hip 2 |
|
Hip osteoarthritis, Arthritis |
OMIM:615612 |
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
Pes planus, Short femur, Sandal gap, Tarsal synostosis, Wide capital femoral epiphyses, Micrognat... |
OMIM:147891 |
Caspase 8 Deficiency |
|
Recurrent sinopulmonary infections, Complete or near-complete absence of specific antibody respon... |
OMIM:607271 |
Epiphyseal Dysplasia, Multiple, 7 |
|
Epiphyseal dysplasia, Monkey wrench femoral neck, Advanced ossification of carpal bones, Flat ace... |
OMIM:617719 |
Léri-Weill Dyschondrosteosis |
|
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... |
ORPHA:240 |
Eosinophilia, Familial |
|
Recurrent bronchitis, Eosinophilia, Thrombocytopenia, Leukocytosis, Anemia |
OMIM:131400 |
Lethal Faciocardiomelic Dysplasia |
|
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ... |
ORPHA:1972 |
Hip Dysplasia, Beukes Type |
|
Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea... |
ORPHA:2114 |
Leri-Weill Dyschondrosteosis |
|
Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul... |
OMIM:127300 |
Melorheostosis With Osteopoikilosis |
|
Complete duplication of the distal phalanges of the hand, Osteopoikilosis, Abnormal cortical bone... |
ORPHA:1879 |
Tibial Aplasia-Ectrodactyly Syndrome |
|
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Limitation... |
ORPHA:3329 |
Brachydactyly Type C |
|
Stippling of the epiphysis of the distal phalanx of the thumb, Short metatarsal, Symphalangism af... |
ORPHA:93384 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Anterior uveitis, Pericarditis, Skin rash, Autoimmunity, Joint swelling, Pleural effusion, Juveni... |
ORPHA:85414 |
Brachyolmia Type 1, Hobaek Type |
|
Osteopenia, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiphyses, Short... |
OMIM:271530 |
Pemphigus Vulgaris, Familial |
|
Autoimmune antibody positivity, Autoimmunity |
OMIM:169610 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Lymphadenitis, Sepsis, Leukopenia, T lymphocytopenia, Neutropenia, Decreased circulating IgG leve... |
OMIM:618986 |
Ghosal Hematodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Bowing of the long bones, Abnormal tibia morphology, Abnormal femur mo... |
ORPHA:1802 |
Neutropenia, Chronic Familial |
|
Increased circulating antibody level, Periodontitis, Neutropenia |
OMIM:162700 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Crackles, Elevated circulating C-reactive protein concentration, Nonproductive cough, Leukocytosi... |
ORPHA:2902 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... |
OMIM:619824 |
Autoimmune Lymphoproliferative Syndrome |
|
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Autoimmune thrombocyt... |
OMIM:601859 |
Isolated Osteopoikilosis |
|
Syndactyly, Abnormally ossified vertebrae, Increased bone mineral density, Abnormal pelvis bone m... |
ORPHA:166119 |
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
|
Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, Enlarged metaphyses, Ir... |
OMIM:618728 |
Slipped Femoral Capital Epiphyses |
|
Hip osteoarthritis |
OMIM:182260 |
Kimura Disease |
|
Increased circulating IgE level, Eosinophilia |
ORPHA:482 |
Mesomelic Dysplasia, Savarirayan Type |
|
Abnormal foot morphology, Talipes equinovalgus, Hip dislocation, Mesomelia, Short tibia, Dislocat... |
OMIM:605274 |
Van Buchem Disease |
|
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones |
OMIM:239100 |
Immunodeficiency, Common Variable, 1 |
|
Impaired T cell function, Pneumonia, Splenomegaly, Recurrent pneumonia, Neutropenia in presence o... |
OMIM:607594 |
Farber Lipogranulomatosis |
|
Osteolysis involving bones of the feet, Hyperextensibility of the finger joints, Ulnar deviation ... |
OMIM:228000 |
Metaphyseal Anadysplasia |
|
Bowing of the long bones, Abnormal morphology of ulna, Joint stiffness, Abnormality of the lower ... |
ORPHA:1040 |
Immunodeficiency 8 With Lymphoproliferation |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:615401 |
Immunodeficiency 62 |
|
Autoimmune thrombocytopenia, Severe recurrent varicella, Decreased proportion of memory B cells, ... |
OMIM:618459 |
Rheumatoid Arthritis |
|
Rheumatoid factor positive, Joint stiffness, Anti-citrullinated protein antibody positivity, Join... |
OMIM:180300 |
Pgm3-Cdg |
|
Abnormal CD4:CD8 ratio, Recurrent viral infections, Sepsis, Increased circulating IgG level, Leuk... |
ORPHA:443811 |
Osteoarthritis Susceptibility 1 |
|
Hip osteoarthritis |
OMIM:165720 |
Gnathodiaphyseal Dysplasia |
|
Osteopenia, Bowing of the long bones, Recurrent fractures, Mandibular osteomyelitis, Thickened co... |
ORPHA:53697 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... |
ORPHA:174 |
Angel-Shaped Phalangoepiphyseal Dysplasia |
|
Hip osteoarthritis, Hyperextensibility of the finger joints, Premature osteoarthritis, Delayed os... |
OMIM:105835 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Recurrent sinopulmonary infections, Aplastic anemia, Eosinophilia, Pneumo... |
ORPHA:486 |
Metaphyseal Chondrodysplasia, Spahr Type |
|
Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Metaphyseal chondrodyspl... |
ORPHA:2501 |
Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Generalized osteosclerosis, Clavicular sclerosis, Abnormal cortical bo... |
ORPHA:2790 |
Pseudoachondroplasia |
|
Limited hip extension, Distal joint laxity, Generalized joint laxity, Delayed epiphyseal ossifica... |
ORPHA:750 |
Lymphoma, Hodgkin, Classic |
|
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM |
OMIM:236000 |
Complement Component 4, Partial Deficiency Of |
|
Systemic lupus erythematosus |
OMIM:120790 |
Lethal Recessive Chondrodysplasia |
|
Micromelia, Micrognathia, Generalized osteosclerosis, Short long bone, Flared elbow metaphyses, L... |
ORPHA:1423 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Aplasia of the thymus, Eosinophilia, Pneumonia, Splenomegaly, Increased circulating IgE level, Re... |
OMIM:602450 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Pneumonia, Purulent rhinitis, Recurrent opportunistic infections, T lymphocytopenia, Arthritis, B... |
OMIM:601457 |
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly |
OMIM:228250 |
Specific Granule Deficiency 1 |
|
Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ... |
OMIM:245480 |
Ige Responsiveness, Atopic |
|
Asthma, Increased circulating IgE level, Eczema, Allergic rhinitis |
OMIM:147050 |
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia... |
ORPHA:988 |
Epiphyseal Dysplasia, Multiple, 1 |
|
Epiphyseal dysplasia, Short metacarpal, Pes planus, Joint stiffness, Avascular necrosis of the ca... |
OMIM:132400 |
Bullous Impetigo |
|
Pustule, Septic arthritis, Recurrent bacterial skin infections, Sepsis |
ORPHA:36237 |
Acrocapitofemoral Dysplasia |
|
Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short... |
OMIM:607778 |
Laurin-Sandrow Syndrome |
|
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B... |
OMIM:135750 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
T lymphocytopenia, Decreased circulating IgG level, Recurrent bacterial infections, Recurrent can... |
OMIM:242870 |
Epiphyseal Dysplasia, Multiple, 4 |
|
Epiphyseal dysplasia, Short metacarpal, Hypoplasia of the femoral head, Flat capital femoral epip... |
OMIM:226900 |
Immunodeficiency 60 And Autoimmunity |
|
Recurrent sinopulmonary infections, Pancytopenia, Splenomegaly, Bronchiectasis, Ulcerative coliti... |
OMIM:618394 |
Peripartum Cardiomyopathy |
|
Ventricular tachycardia, Left bundle branch block, Increased circulating interferon-gamma concent... |
ORPHA:563 |
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia |
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Epiphyseal dysplasia, Flat distal femoral epiphysis, Proximal femoral metaphyseal irregularity, C... |
OMIM:609324 |
Immunodeficiency 102 |
|
Increased circulating interleukin 6 concentration, Sepsis, Leukopenia, Decreased circulating IgG ... |
OMIM:301082 |
Netherton Syndrome |
|
Recurrent respiratory infections, Recurrent skin infections, Eczema, Allergic rhinitis, Asthma, I... |
OMIM:256500 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Acute myeloid leukemia, Refractory anemia, Eczema, Asthma, Leukopenia, Monocytosis, Bone marrow h... |
OMIM:616871 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
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Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small... |
ORPHA:93356 |
Combined Immunodeficiency Due To Zap70 Deficiency |
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Recurrent viral infections, Lymphadenitis, Colitis, Lymphocytosis, Autoimmune thrombocytopenia, H... |
ORPHA:911 |
Immunodeficiency 52 |
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Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... |
OMIM:617514 |
Epiphyseal Dysplasia, Multiple, With Miniepiphyses |
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Epiphyseal dysplasia, Generalized joint laxity, Patellar hypoplasia, Short femoral neck, Irregula... |
OMIM:609325 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
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Severe B lymphocytopenia, Sinusitis, Recurrent viral infections, Autoimmune thrombocytopenia, Lym... |
OMIM:102700 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
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Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i... |
OMIM:619220 |
Progressive Pseudorheumatoid Dysplasia |
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Arthropathy, Enlarged interphalangeal joints, Camptodactyly of finger, Joint stiffness, Osteoarth... |
OMIM:208230 |
Angioosteohypotrophic Syndrome |
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Abnormal trabecular bone morphology, Hypoplasia of the ulna, Short humerus, Aplasia/hypoplasia in... |
ORPHA:75508 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
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Ankle swelling, Joint stiffness, Antinuclear antibody positivity, Iridocyclitis, Knee osteoarthri... |
ORPHA:85408 |
Immunodeficiency 88 |
|
Asthma, Eosinophilia |
OMIM:619630 |
Osteopetrosis, Autosomal Recessive 2 |
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Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Cranial hyperostosis, Diaphyseal sc... |
OMIM:259710 |
Spondylometaphyseal Dysplasia, Corner Fracture Type |
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Hypoplasia of the odontoid process, Coxa vara, Short femoral neck, Corner fracture of metaphysis,... |
OMIM:184255 |
Metaphyseal Anadysplasia 2 |
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Micromelia, Bowing of the legs, Metaphyseal widening, Short femoral neck, Metaphyseal irregularit... |
OMIM:613073 |
Immunodeficiency 85 And Autoimmunity |
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Lymphopenia, Recurrent respiratory infections, Eczema, Oligoarthritis, Decreased circulating tota... |
OMIM:619510 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
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Decreased proportion of CD4-positive T cells, Recurrent respiratory infections, Autoimmune thromb... |
OMIM:300853 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
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Recurrent viral infections, T lymphocytopenia, Hemolytic anemia, Psoriasiform dermatitis, Decreas... |
OMIM:606367 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
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Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Autoimmune thrombocyt... |
OMIM:603909 |
Osteopetrosis, Autosomal Recessive 1 |
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Increased bone mineral density, Osteomyelitis, Femur fracture, Craniosynostosis, Flared metaphysi... |
OMIM:259700 |
Peeling Skin Syndrome 1 |
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Asthma, Increased circulating IgE level, Eosinophilia, Erythroderma |
OMIM:270300 |
Brachydactylous Dwarfism, Mseleni Type |
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Osteopenia, Increased inflammatory response, Protrusio acetabuli, Autoimmunity, Knee osteoarthrit... |
ORPHA:2619 |
Immunodeficiency 67 |
|
Transient neutropenia, Liver abscess, Recurrent staphylococcal infections, Increased circulating ... |
OMIM:607676 |
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome |
|
Arthropathy, Generalized morning stiffness, Arthritis, Wrist flexion contracture, Congenital fing... |
OMIM:208250 |
Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
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Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem... |
OMIM:153600 |
Fibular Dimelia-Diplopodia Syndrome |
|
Absent tibia |
ORPHA:1757 |
Acute Myelomonocytic Leukemia |
|
Eosinophilia, Dyspnea, Leukocytosis, Anemia, Thrombocytopenia |
ORPHA:517 |
Adult-Onset Still Disease |
|
Pericarditis, Neutrophilia, Skin rash, Elevated circulating C-reactive protein concentration, Myo... |
ORPHA:829 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... |
OMIM:613502 |
Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
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Arthritis, Lymphopenia, Eosinophilia, Abnormal pleura morphology |
ORPHA:2582 |
Aspergillosis |
|
Sinusitis, Neutropenia, Cough, Infectious encephalitis, Chronic pulmonary obstruction, Bronchiect... |
ORPHA:1163 |
Otopalatodigital Syndrome Type 1 |
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Increased bone mineral density, Bowing of the long bones, Sandal gap, Proximal placement of thumb... |
ORPHA:90650 |
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
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Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
ORPHA:70593 |
Whim Syndrome 1 |
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Recurrent upper respiratory tract infections, Bronchiectasis, Decreased circulating antibody leve... |
OMIM:193670 |
Congenital Enterovirus Infection |
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Abnormal macrophage morphology, Skin rash, Pericardial effusion, Myocarditis, Meningitis, Leukocy... |
ORPHA:292 |
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
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Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ... |
OMIM:612447 |
Multiple Epiphyseal Dysplasia, Lowry Type |
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Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Delayed epiphyseal ossification, F... |
ORPHA:166016 |
Sudden Cardiac Failure, Infantile |
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Sudden cardiac death, Myocarditis, Congestive heart failure, Myocardial fibrosis, Bradycardia, Hy... |
OMIM:617222 |
Bacterial Toxic-Shock Syndrome |
|
Fasciitis, Sinusitis, Myositis, Elevated circulating creatine kinase concentration, Severe varice... |
ORPHA:36234 |
Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
Immunodeficiency 23 |
|
Hemolytic anemia, Recurrent respiratory infections, Membranoproliferative glomerulonephritis, Abs... |
OMIM:615816 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Abnormal T cell morphology, Agammaglobulinemia, Recurrent bacterial infections, Absent isohemaggl... |
OMIM:613501 |
Paget Disease Of Bone 2, Early-Onset |
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Bowing of the long bones, Short femur, Fractures of the long bones, Osteolysis, Increased suscept... |
OMIM:602080 |
Agammaglobulinemia 2, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulin... |
OMIM:613500 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
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Decreased proportion of naive T cells, Sepsis, Recurrent cutaneous fungal infections, Increased c... |
ORPHA:276 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Recurrent respiratory infections, Erythema nodosum, Recurrent infections, Agammaglobulinemia, Neu... |
OMIM:615214 |
Reticulum Cell Sarcoma |
|
Neoplasm, Sarcoma |
OMIM:267730 |
Ichthyosis-Prematurity Syndrome |
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Neonatal respiratory distress, Eosinophilia |
ORPHA:88621 |
Deafness, Neural, With Atypical Atopic Dermatitis |
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Late onset atopic dermatitis, Increased circulating IgE level |
OMIM:221700 |
Lymphoproliferative Syndrome, X-Linked, 1 |
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Recurrent respiratory infections, Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Elevated c... |
OMIM:308240 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
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Limb undergrowth, Increased bone mineral density, Abnormal cortical bone morphology, Abnormal lim... |
ORPHA:2204 |
Juvenile Temporal Arteritis |
|
Allergic rhinitis, Leukocytosis, Conjunctivitis, Eosinophilia |
ORPHA:26137 |
Igg4-Related Aortitis |
|
Increased inflammatory response, Increased circulating IgG4 level, Elevated circulating C-reactiv... |
ORPHA:449400 |
Roifman Syndrome |
|
Eczema, Eosinophilia, Recurrent pneumonia, Hepatosplenomegaly, Decreased circulating antibody lev... |
ORPHA:353298 |
Immunodeficiency 109 With Lymphoproliferation |
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Pancytopenia, Decreased lymphocyte proliferation in response to anti-CD3, Splenomegaly, Bronchiec... |
OMIM:620282 |
Buschke-Ollendorff Syndrome |
|
Osteopoikilosis, Flexion contracture, Lower limb asymmetry, Joint stiffness |
OMIM:166700 |
Familial Afibrinogenemia |
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Joint swelling |
ORPHA:98880 |
Catastrophic Antiphospholipid Syndrome |
|
Abnormal heart valve morphology, Angina pectoris, Myocardial infarction, Pulmonary embolism, Tran... |
ORPHA:464343 |
Endove Syndrome, Limb-Only Type |
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Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... |
OMIM:619217 |
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
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Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl... |
OMIM:113310 |
Hereditary Folate Malabsorption |
|
Recurrent respiratory infections, Pancytopenia, Recurrent urinary tract infections, Eosinophilia,... |
ORPHA:90045 |
Mucopolysaccharidosis, Type Ix |
|
Hyperextensibility at elbow, Acetabular erosions, Periarticular soft-tissue mass, Synovitis, Hype... |
OMIM:601492 |
Immunodeficiency With Hyper-Igm, Type 2 |
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Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Impaired Ig ... |
OMIM:605258 |
Majeed Syndrome |
|
Inflammatory abnormality of the skin, Osteomyelitis, Skin rash, Flexion contracture, Joint swelling |
OMIM:609628 |
Immunodeficiency 86 |
|
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level |
OMIM:619549 |
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome |
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Bowing of the long bones, Coarse metaphyseal trabecularization, Epiphyseal stippling, Abnormal bo... |
ORPHA:1952 |
Osteofibrous Dysplasia, Susceptibility To |
|
Pathologic fracture, Pseudoarthrosis, Fibular hypoplasia |
OMIM:607278 |
Immunodeficiency 104 |
|
Pneumonia, Eczema, Splenomegaly, Recurrent opportunistic infections, Chronic mucocutaneous candid... |
OMIM:608971 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Sepsis, Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hemolytic anemia... |
OMIM:308230 |
Caffey Disease |
|
Cortical irregularity, Bowing of the legs, Periosteal thickening of long tubular bones, Tibial bo... |
OMIM:114000 |
Tn Polyagglutination Syndrome |
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Autoimmunity |
OMIM:300622 |
Weismann-Netter Syndrome |
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Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia... |
ORPHA:3344 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Pneumonia, Recurrent upper respiratory tract infections, Recurrent candida infections, Decreased ... |
OMIM:614069 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Pes planus, Short metacarpal, Micromelia, Osteoarthritis, Limitation of joint mobility, Osteoporo... |
ORPHA:93351 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Recurrent infections, Leukopenia, I... |
OMIM:615285 |
Generalized Eruptive Histiocytosis |
|
Leukemia, Hypereosinophilia, Maculopapular exanthema, Histiocytosis |
ORPHA:157991 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Micrognathia, Micromeli... |
ORPHA:440354 |
Agammaglobulinemia, X-Linked |
|
Sepsis, T lymphocytopenia, Decreased circulating IgE, Conjunctivitis, Neutropenia, Decreased circ... |
OMIM:300755 |
Q Fever |
|
Abnormal left ventricular function, Cholecystitis, Meningitis, Infectious encephalitis, Maculopap... |
ORPHA:781 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Hyperostosis, Abnormal pelvic girdle bone morphology, Metacarpal diaphyseal endosteal sclerosis, ... |
OMIM:144750 |
Brachydactyly-Syndactyly, Zhao Type |
|
Hallux valgus, Toe syndactyly, Short fifth metatarsal, Short middle phalanx of the 2nd finger, Sy... |
ORPHA:93409 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... |
OMIM:612692 |
Neutrophil Immunodeficiency Syndrome |
|
Leukocytosis, Abnormality of neutrophil physiology |
ORPHA:183707 |
Immunodeficiency 27A |
|
Increased inflammatory response, Abnormal bronchus physiology, Pneumonia, Splenomegaly, Leukocyto... |
OMIM:209950 |
O'Sullivan-Mcleod Syndrome |
|
Increased circulating antibody level, Eosinophilia |
ORPHA:99965 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Pustule, Increased circulating IgE level, Recurrent bronchiolitis, Recurrent pneumonia |
OMIM:616069 |
Activated Pi3K-Delta Syndrome |
|
Pneumonia, Splenomegaly, Recurrent tonsillitis, Bronchiectasis, Decreased circulating antibody le... |
ORPHA:397596 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Increased bone mineral density, Micrognathia, High iliac wing, Osteopetrosis, Large iliac wing, F... |
ORPHA:2780 |
Immunodeficiency 91 And Hyperinflammation |
|
Neutrophilia, Membranoproliferative glomerulonephritis, Maculopapular exanthema, Elevated circula... |
OMIM:619644 |
Orofaciodigital Syndrome Viii |
|
Syndactyly, Short tibia, Polydactyly |
OMIM:300484 |
Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction |
|
Short metacarpal, Short hallux, Hallux varus, Short thumb, Short metatarsal, Hitchhiker thumb, Sh... |
OMIM:112450 |
Dracunculiasis |
|
Recurrent cutaneous abscess formation, Skin rash, Flexion contracture, Limitation of joint mobili... |
ORPHA:231 |
Legionnaires Disease |
|
Hyponatremia, Pericarditis, Myocarditis, Recurrent pharyngitis, Splenomegaly, Hepatitis, Endocard... |
ORPHA:549 |
Antisynthetase Syndrome |
|
Aortic regurgitation, Recurrent respiratory infections, Myositis, Telangiectasia of the skin, Ski... |
ORPHA:81 |
Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia, Recurrent respiratory infe... |
OMIM:233650 |
Spondyloepiphyseal Dysplasia Congenita |
|
Abnormally ossified vertebrae, Short femur, Limited elbow movement, Micrognathia, Abnormal foot m... |
ORPHA:94068 |
Immune-Mediated Necrotizing Myopathy |
|
Myositis, Skin rash, Elevated circulating creatine kinase concentration, Raynaud phenomenon, Myoc... |
ORPHA:206569 |
Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... |
OMIM:612576 |
Immunoglobulin A Deficiency 2 |
|
Recurrent sinopulmonary infections, Abnormal lymphocyte morphology, Recurrent infection of the ga... |
OMIM:609529 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eosinophilia, Eczema, Autoimmune thrombocytopenia, Glomerulonephritis, Increased circulating IgE ... |
OMIM:304790 |
Osteosarcoma |
|
Joint swelling, Pathologic fracture, Osteolysis |
ORPHA:668 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Increased circulating IgE level, Eczema, Thyroiditis, Recurrent infections |
OMIM:618985 |
Gnathodiaphyseal Dysplasia |
|
Osteopenia, Bowing of the long bones, Osteomyelitis, Diaphyseal cortical sclerosis, Increased sus... |
OMIM:166260 |
Rheumatic Fever |
|
Pericarditis, Sinusitis, Abnormal heart valve morphology, Epistaxis, Myocarditis, Recurrent phary... |
ORPHA:3099 |
Immunodeficiency, Common Variable, 5 |
|
Antinuclear antibody positivity, Recurrent respiratory infections, Recurrent bacterial infections |
OMIM:613495 |
Palmoplantar Keratoderma, Epidermolytic, 1 |
|
Increased circulating IgE level |
OMIM:144200 |
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Increased bone mineral density, Pedal edema |
ORPHA:75325 |
Immunodeficiency 61 |
|
Recurrent respiratory infections, Frequent Giardia lamblia infestation, Arthritis, Recurrent bact... |
OMIM:300310 |
Immunodeficiency 57 With Autoinflammation |
|
Recurrent respiratory infections, Skin rash, Gastritis, Perianal abscess, Bronchiectasis, Decreas... |
OMIM:618108 |
Orofaciodigital Syndrome Type 10 |
|
Radial deviation of the hand, Tarsal synostosis, Duplication of thumb phalanx, Micrognathia, Shor... |
ORPHA:2756 |
Hypochondroplasia |
|
Brachydactyly, Aplasia/hypoplasia of the extremities, Flared metaphysis, Short long bone, Short f... |
OMIM:146000 |
Myeloproliferative Disorder, Chronic, With Eosinophilia |
|
Eosinophilia, Myeloproliferative disorder |
OMIM:131440 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Clinodactyly of the 5th finger, Increased bone mineral density, Osteopetrosis, Micrognathia |
OMIM:617306 |
Lyme Disease |
|
Arthritis, Infectious encephalitis, Joint swelling, Uveitis |
ORPHA:91546 |
Wiskott-Aldrich Syndrome |
|
Abnormal delayed hypersensitivity skin test, Sepsis, Iron deficiency anemia, Inflammation of the ... |
OMIM:301000 |
Progressive Pseudorheumatoid Arthropathy Of Childhood |
|
Abnormality of the knee, Enlarged interphalangeal joints, Rheumatoid factor positive, Wrist swell... |
ORPHA:1159 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Gastrointestinal hemorrhage, Retinal cotton wool spot, Normocytic anemia, Skin rash, Pneumonia, R... |
ORPHA:247691 |
Agammaglobulinemia 8A, Autosomal Dominant |
|
Agammaglobulinemia, Recurrent otitis media, B lymphocytopenia, Recurrent infections |
OMIM:616941 |
Epiphyseal Dysplasia, Baumann Type |
|
Joint laxity, Epiphyseal dysplasia, Carpal bone aplasia, Pes planus, Hypoplasia of the femoral he... |
OMIM:610797 |
Eng-Strom Syndrome |
|
Arthritis, Camptodactyly of finger |
ORPHA:1937 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bowing of the legs, Delayed ep... |
OMIM:600081 |
Brachydactyly Type E |
|
Short metacarpal, Aplasia/Hypoplasia of the distal phalanx of the hallux, Short metatarsal, Joint... |
ORPHA:93387 |
Acheiropodia |
|
Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e... |
ORPHA:931 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Recurrent respiratory infections, Transient neutropenia, Agammaglobulinemia, Decreased circulatin... |
OMIM:619707 |
Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo... |
OMIM:119100 |
Peripheral Dysostosis |
|
Hip osteoarthritis |
OMIM:170700 |
Immunodeficiency, Common Variable, 3 |
|
Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Decrease... |
OMIM:613493 |
Blau Syndrome |
|
Nongranulomatous uveitis, Pericarditis, Camptodactyly of finger, Eczema, Erythema nodosum, Synovi... |
OMIM:186580 |
Systemic Lupus Erythematosus 16 |
|
Antinuclear antibody positivity, Perinuclear antineutrophil antibody positivity, Anti-dsDNA antib... |
OMIM:614420 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Increased skull ossification, Craniofacial osteosclerosis, Metaphyseal widening, Diaphyseal scler... |
OMIM:618476 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Elevated circulating C-reactive... |
OMIM:615559 |
American Trypanosomiasis |
|
Skin rash, Myocarditis, Congestive heart failure, Splenomegaly, Cardiomyopathy, Arrhythmia, Achal... |
ORPHA:3386 |
C1Q Deficiency 2 |
|
Anti-Sm antibody positivity, Rheumatoid factor positive, Chilblains, Discoid lupus rash, Antinucl... |
OMIM:620321 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration, Increased cir... |
OMIM:617388 |
Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Hypoplasia of the ulna, Broad hallux, Talipes, Limited elbow extension, Short metatarsal, Flatten... |
ORPHA:1856 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
|
Pneumonia, Recurrent upper respiratory tract infections, Atopic dermatitis, T lymphocytopenia, Ab... |
OMIM:618806 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Atrophic gastritis, Pure red cell aplasia, Sepsis, Recurrent candida infections, Inflammation of ... |
ORPHA:436159 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
Iga Pemphigus |
|
Neutrophilic infiltration of the skin, Eosinophilia, Monoclonal elevation of circulating IgA, Inc... |
ORPHA:555905 |
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities |
|
Asthma, Recurrent infections, Eosinophilia, Abnormally low T cell receptor excision circle level |
OMIM:618092 |
Langer Mesomelic Dysplasia |
|
Bowing of the long bones, Abnormal morphology of ulna, Micromelia, Aplasia/Hypoplasia of the fibu... |
ORPHA:2632 |
Autoimmune Lymphoproliferative Syndrome |
|
Uveitis, Increased circulating IgG level, Colitis, Lymphocytosis, Increased B cell count, Decreas... |
ORPHA:3261 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
11 pairs of ribs, Overlapping toe, Micrognathia, Wide anterior fontanel, Fibular hypoplasia, Tali... |
OMIM:201170 |
Tibial Hemimelia |
|
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased... |
ORPHA:93322 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive |
|
Hip osteoarthritis, Osteoarthritis |
OMIM:271600 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Recurrent respiratory infections, Pancytopenia, Aplastic anemia, Acne, Recurrent skin infections,... |
OMIM:300635 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Osteomalacia, Bowing of the le... |
OMIM:300554 |
Diastrophic Dysplasia |
|
Hip contracture, Costal cartilage calcification, Flattened epiphysis, Ulnar deviation of finger, ... |
OMIM:222600 |
Immunodeficiency 92 |
|
Osteomyelitis, Cholangitis, Pneumonia, Leukocytosis, Decreased proportion of class-switched memor... |
OMIM:619652 |
Femoral-Facial Syndrome |
|
Short femur, Micrognathia, Coxa vara, Abnormal fibula morphology, Abnormal pelvic girdle bone mor... |
ORPHA:1988 |
Eales Disease |
|
Peripheral retinal neovascularization, Anterior uveitis, Rhegmatogenous retinal detachment, Trans... |
ORPHA:40923 |
Ghosal Hematodiaphyseal Dysplasia |
|
Myelofibrosis, Increased bone mineral density, Diaphyseal dysplasia, Hyperostosis cranialis interna |
OMIM:231095 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Recurrent respiratory infections, Autoimmune hemolytic anemia, Recurrent urinary tract infections... |
OMIM:618495 |
Immunodeficiency 36 With Lymphoproliferation |
|
Lymphopenia, Splenomegaly, Recurrent upper respiratory tract infections, Bronchiectasis, Chronic ... |
OMIM:616005 |
Ehlers-Danlos Syndrome, Hypermobility Type |
|
Joint dislocation, Osteoarthritis, Joint hypermobility, Joint laxity |
OMIM:130020 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Increased bone mineral density, Broad femoral neck, Short tubular bones of the hand, ... |
ORPHA:85184 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Decrease... |
OMIM:600802 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Recurrent respiratory infections, Osteomyelitis, Skin rash, Eosinophilia, Eczema, Atelectasis, In... |
ORPHA:2314 |
Hashimoto Thyroiditis |
|
Autoimmune antibody positivity, Hashimoto thyroiditis |
OMIM:140300 |
Peripheral Dysostosis |
|
Osteoarthritis, Joint stiffness |
ORPHA:1795 |
Osteopetrosis, Autosomal Recessive 9 |
|
Pathologic fracture, Increased bone mineral density, Osteopetrosis, Cortical sclerosis |
OMIM:620366 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Recurrent respiratory infections, Decreased circulating total IgM, B lymphocytopenia, Abnormally ... |
OMIM:618987 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Sinusitis, Abnormal CD4:CD8 ratio, Recurrent viral infections, Acute otitis media, Recurrent cand... |
ORPHA:572 |
Spondyloepiphyseal Dysplasia Tarda |
|
Increased inflammatory response, Increased bone mineral density, Osteoarthritis of the distal int... |
ORPHA:93284 |
Immunodeficiency 43 |
|
Hypoproteinemia, Recurrent respiratory infections, Decreased specific antibody response to polysa... |
OMIM:241600 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Recurrent sinopulmonary infections, Autoimmune hemolytic anemia, Atrophic gastritis, Recurrent sk... |
OMIM:616576 |
Hypereosinophilic Syndrome, Idiopathic |
|
Myeloproliferative disorder, Splenomegaly, Eosinophilia |
OMIM:607685 |
Pelviscapular Dysplasia |
|
Congenital hip dislocation, Short femur, Hypoplastic scapulae, Hypoplastic ilia, Humeroradial syn... |
ORPHA:93333 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Impaired Ig class switch recombination, Epididymitis, Increased circulating IgM level, Recurrent ... |
OMIM:608106 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Increased inflammatory response, Myositis, Recurrent intrapulmonary hemorrhage, Transient ischemi... |
ORPHA:183 |
Nevoid Hypermelanosis, Linear And Whorled |
|
Eosinophilia |
OMIM:614323 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Recurrent infection... |
OMIM:616452 |
Chondrodysplasia, Blomstrand Type |
|
Micromelia, Micrognathia, Generalized osteosclerosis, Squared iliac bones, Flared metaphysis, Adv... |
OMIM:215045 |
Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Pancytopenia, Skin rash,... |
OMIM:619924 |
Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Short metacarpal, Hitchhiker thumb, Micrognathia, Capitate-hamate fusion, Short toe, Genu valgum,... |
OMIM:614078 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus |
OMIM:200900 |
Immunodeficiency 22 |
|
Pericarditis, Abscess, Thrombocytopenia, Recurrent upper respiratory tract infections, Decreased ... |
OMIM:615758 |
Ataxia-Pancytopenia Syndrome |
|
Recurrent respiratory infections, Pancytopenia, Abnormal macrophage morphology, Abnormality of ne... |
ORPHA:2585 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Respiratory distress, Myositis, Sepsis, Iron deficiency anemia, Tubulointerstitial nephritis, Col... |
ORPHA:37042 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Metaphyseal dysplasia, Short metacarpal, Hypoplastic sacrum, Capitate-hamate fusion, Osteoarthrit... |
OMIM:271650 |
Scrub Typhus |
|
Anterior uveitis, Skin rash, Myocarditis, Meningitis, Splenomegaly, Hypotension, Infectious encep... |
ORPHA:83317 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad femoral neck, Distal tibial bowing, Metaphyseal chondrodysplasia, Metaphyseal widening, Met... |
OMIM:156500 |
Deafness, Autosomal Dominant 34, With Or Without Inflammation |
|
Arthritis, Conjunctivitis |
OMIM:617772 |
Familial Exudative Vitreoretinopathy |
|
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... |
ORPHA:891 |
Osteopetrosis, Autosomal Recessive 3 |
|
Osteopetrosis, Cranial hyperostosis, Diaphyseal sclerosis |
OMIM:259730 |
Acromesomelic Dysplasia 2B |
|
Short metacarpal, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Absent toe, Short meta... |
OMIM:228900 |
Pseudoachondroplasia |
|
Limited hip extension, Genu recurvatum, Delayed epiphyseal ossification, Osteoarthritis, Metaphys... |
OMIM:177170 |
Atelosteogenesis Type Ii |
|
Micromelia, Micrognathia, Tracheobronchomalacia, Short phalanx of finger, Hypoplastic cervical ve... |
ORPHA:56304 |
Mesomelic Dysplasia, Savarirayan Type |
|
Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Hip dislocation, Hig... |
ORPHA:85170 |
Fibular Aplasia-Ectrodactyly Syndrome |
|
Split hand, Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula |
ORPHA:1118 |
Immunodeficiency 46 |
|
Recurrent sinopulmonary infections, Chronic oral candidiasis, Intermittent thrombocytopenia, Seps... |
OMIM:616740 |
Brachydactyly-Preaxial Hallux Varus Syndrome |
|
Short metacarpal, Micrognathia, Preaxial hand polydactyly, Radial club hand, Short metatarsal, Br... |
ORPHA:1278 |
Cinca Syndrome |
|
Skin rash, Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Uve... |
OMIM:607115 |
Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Abnormal morphology of the radius, Brachydactyly, Tarsal synostosis, Abnormal morphology of ulna,... |
ORPHA:2639 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Short humerus, Short metacarpal, Rhizomelia, Short metatarsal, Coxa vara, Deformed humeral heads,... |
OMIM:601438 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Broad toe, Pes planus, Enlarged metacarpal epiphyses, Enlarged epiphyses of the phalanges of the ... |
OMIM:609616 |
Polydactyly, Postaxial, Type A7 |
|
Postaxial foot polydactyly, Postaxial hand polydactyly, Short fifth metatarsal, 2-3 toe cutaneous... |
OMIM:617642 |
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Tapered finger, Flat capital femoral epiphysis, Flexion contracture, Flattened epiphy... |
ORPHA:157965 |
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... |
OMIM:228930 |
Central Retinal Vein Occlusion |
|
Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... |
ORPHA:411527 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Absent specific antibody response, Recurrent sinopulmonary infections, Decreased proportion of CD... |
OMIM:619846 |
Immunodeficiency 37 |
|
Recurrent infections, Decreased circulating antibody level, Colitis, Decreased proportion of cent... |
OMIM:616098 |
Brucellosis |
|
Liver abscess, Elevated circulating C-reactive protein concentration, Knee osteoarthritis, Increa... |
ORPHA:1304 |
Osteoarthritis With Mild Chondrodysplasia |
|
Hip osteoarthritis, Knee osteoarthritis, Heberden's node, Joint stiffness |
OMIM:604864 |
Osteomesopyknosis |
|
Increased bone mineral density |
OMIM:166450 |
12q14 microdeletion syndrome |
|
Osteopoikilosis |
DECIPHER:76 |
Omenn Syndrome |
|
Severe B lymphocytopenia, Eosinophilia, Pneumonia, Recurrent viral infections, Splenomegaly, Thro... |
OMIM:603554 |
Pneumocystosis |
|
Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Abnormal neutrophil... |
ORPHA:723 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Recurrent respiratory infections, Eosinophilic infiltration of the esophagus, Perianal abscess, L... |
OMIM:618213 |
Atelosteogenesis Type I |
|
Short femur, Rhizomelia, Micrognathia, Abnormal ossification involving the femoral head and neck,... |
ORPHA:1190 |
Hemophilia A |
|
Joint swelling, Abnormality of the elbow, Joint hemorrhage |
ORPHA:98878 |
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome |
|
Osteoarthritis |
ORPHA:435804 |
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Dysplastic iliac wing, Metaphyseal spurs, Micromelia, Bowing of the legs, Metaphyseal widening, S... |
OMIM:608728 |
Bent Bone Dysplasia Syndrome 2 |
|
Osteopenia, Ulnar deviation of the hand, Bowed humerus, Short tibia, Ulnar bowing, Femoral bowing... |
OMIM:620076 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Splenomegaly, Increased circulating ferritin concentration, Recurrent upper respiratory tract inf... |
OMIM:613101 |
Kyphomelic Dysplasia |
|
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat... |
OMIM:211350 |
Weismann-Netter Syndrome |
|
Anterior tibial bowing, Squared iliac bones, Lateral femoral bowing, Fibular bowing, Calvarial hy... |
OMIM:112350 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Skin rash, Cardiac arrest, Eosinophilia, Pustule, Myocarditis, Hepatitis, Thyroiditis, Tubulointe... |
ORPHA:139402 |
Acute Lung Injury |
|
Respiratory distress, Increased circulating interleukin 6 concentration, Acute pancreatitis, Pneu... |
ORPHA:178320 |
Ankylosing Vertebral Hyperostosis With Tylosis |
|
Osteoarthritis |
ORPHA:2206 |
Severe Hemophilia A |
|
Limb joint contracture, Limitation of joint mobility, Synovitis, Joint swelling, Progressive join... |
ORPHA:169802 |
Psoriasis 1, Susceptibility To |
|
Arthritis, Psoriasiform dermatitis |
OMIM:177900 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Peripheral vitreous ... |
OMIM:305390 |
Atelosteogenesis, Type I |
|
Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia, Short meta... |
OMIM:108720 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Radial bowing, Rhizomelia, Osteoarthritis, Ulnar bowing, Flared metaphysis, Coxa vara, Tibial bow... |
OMIM:602111 |
Whipple Disease |
|
Gastrointestinal hemorrhage, Hyponatremia, Pericarditis, Myositis, Myocardial infarction, Myocard... |
ORPHA:3452 |
Familial Avascular Necrosis Of Femoral Head |
|
Hip osteoarthritis, Limited hip movement |
ORPHA:86820 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Lymphopenia, Autoimmune hemolytic anemia, Atrophic gastritis, Psoriasiform dermatitis, Eczema, Au... |
OMIM:616100 |
Thanatophoric Dysplasia Type 1 |
|
Bowing of the long bones, Short femur, Micromelia, Joint stiffness, Hypoplastic ilia, Abnormal sa... |
ORPHA:1860 |
Multicentric Reticulohistiocytosis |
|
Arthritis |
ORPHA:139436 |
Immunodeficiency, Common Variable, 2 |
|
Impaired T cell function, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Recurrent bacterial ... |
OMIM:240500 |
Lymphoproliferative Syndrome 3 |
|
Hepatosplenomegaly, Recurrent infections, Decreased circulating antibody level, Partial absence o... |
OMIM:618261 |
Moderate Hemophilia A |
|
Arthropathy, Hip contracture, Limitation of joint mobility, Synovitis, Joint swelling, Joint hemo... |
ORPHA:169805 |
Immunodeficiency 21 |
|
Osteomyelitis, Aplastic anemia, Recurrent viral infections, B lymphocytopenia, Recurrent fungal i... |
OMIM:614172 |
Diastrophic Dysplasia |
|
Increased bone mineral density, Bowing of the long bones, Camptodactyly of finger, Proximal place... |
ORPHA:628 |
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
|
Joint laxity, Metaphyseal dysplasia, Broad tibial metaphyses, Equinovarus deformity, Bowing of th... |
ORPHA:2502 |
Spondyloepimetaphyseal Dysplasia, Handigodu Type |
|
Hip contracture, Abnormality of the knee, Broad radial metaphysis, Protrusio acetabuli, Broad fem... |
ORPHA:99642 |
Solitary Bone Cyst |
|
Abnormal tibia morphology, Abnormal pubic bone morphology, Unicameral bone cyst, Lytic defects of... |
ORPHA:83468 |
Cernunnos-Xlf Deficiency |
|
Recurrent viral infections, Thrombocytopenia, Decreased circulating antibody level, T lymphocytop... |
ORPHA:169079 |
Reticular Dysgenesis |
|
Congenital agranulocytosis, Impaired T cell function, Sepsis, Lack of T cell function, Leukopenia... |
OMIM:267500 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Sepsis, Uveitis, Inflammation of the large intestine, Colitis, Conjunctivitis... |
OMIM:614700 |
Ivic Syndrome |
|
Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Li... |
OMIM:147750 |
Acromicric Dysplasia |
|
Short metacarpal, Cone-shaped epiphysis, Short foot, Short long bone, Short palm, Fifth metacarpa... |
OMIM:102370 |
Granulomatous disease with defect in neutrophil chemotaxis |
|
Impaired neutrophil killing of staphylococci |
OMIM:233670 |
Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Ectopic ossification, Increased bone mineral density |
OMIM:602475 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Osteopenia, Short femur, Fractured radius, Decreased fibular diameter, Multiple prenatal fracture... |
OMIM:616897 |
Boomerang Dysplasia |
|
Finger syndactyly, Abnormally ossified vertebrae, Abnormal morphology of the radius, Abnormal mor... |
ORPHA:1263 |
Systemic Capillary Leak Syndrome |
|
Pericarditis, Myocarditis, Leukocytosis, Hypotension, Arrhythmia, Pancreatitis |
ORPHA:188 |
Jackson-Weiss Syndrome |
|
Broad hallux, Calcaneonavicular fusion, Craniosynostosis, Hallux varus, Broad first metatarsal, 2... |
OMIM:123150 |
Omenn Syndrome |
|
Eosinophilia, Pneumonia, Splenomegaly, Leukocytosis, Thyroiditis, Sepsis, Erythroderma, Abnormal ... |
ORPHA:39041 |
Multiple Epiphyseal Dysplasia Type 4 |
|
Micrognathia, Abnormal hand morphology, Metaphyseal widening, Flexion contracture, Short metatars... |
ORPHA:93307 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Retinal detachment, Peripheral retinal neovascularization, Large hyperpigmented retinal spots, Uv... |
OMIM:193235 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Craniofacial hyperostosis, Craniofacial osteosclerosis, Diaphyseal sclerosis, Cortical sclerosis |
OMIM:122860 |
Osteopetrosis, Autosomal Recessive 4 |
|
Osteopetrosis, Increased bone mineral density, Recurrent fractures |
OMIM:611490 |
Reactive Arthritis |
|
Recurrent urinary tract infections, Pericarditis, Osteomyelitis, Joint stiffness, Pustule, Enthes... |
ORPHA:29207 |
Tularemia |
|
Respiratory distress, Brain abscess, Skin rash, Pneumonia, Erythema nodosum, Leukocytosis, Anemia... |
ORPHA:3392 |
Pyknoachondrogenesis |
|
Increased bone mineral density |
OMIM:265880 |
Loeffler Endocarditis |
|
Abnormal cardiomyocyte morphology, Endocardial fibrosis, Abnormal morphology of the chordae tendi... |
ORPHA:75566 |
Sydenham Chorea |
|
Septic arthritis, Endocarditis, Recurrent streptococcus pneumoniae infections |
ORPHA:306731 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bowing of the legs, Delayed ep... |
OMIM:241530 |
Craniosynostosis With Fibular Aplasia |
|
Craniosynostosis, Fibular aplasia |
OMIM:218550 |
Achondroplasia |
|
Brachydactyly, Radial bowing, Limited hip extension, Short femur, Rhizomelia, Bowing of the legs,... |
OMIM:100800 |
Mixed Connective Tissue Disease |
|
Gastrointestinal hemorrhage, Hemolytic anemia, Pericarditis, Myositis, Skin rash, Gastritis, Myoc... |
ORPHA:809 |
Immunodeficiency, Common Variable, 7 |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Splenomegaly, Chronic (near... |
OMIM:614699 |
Adams-Oliver Syndrome 3 |
|
Absent toe, Short metatarsal, 2-3 toe syndactyly, Short palm, Short distal phalanx of finger, Sho... |
OMIM:614814 |
Lujo Hemorrhagic Fever |
|
Shock, Maculopapular exanthema, Skin rash, Elevated circulating C-reactive protein concentration,... |
ORPHA:319213 |
Neutropenia, Severe Congenital, X-Linked |
|
Eczema, Recurrent bacterial infections, Neutropenia, Monocytopenia, Decreased CD4:CD8 ratio |
OMIM:300299 |
Systemic Lupus Erythematosus, Susceptibility To, 6 |
|
Pericarditis, Antinuclear antibody positivity, Systemic lupus erythematosus, Arthritis, Malar rash |
OMIM:609939 |
Immunodeficiency 31B |
|
Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections |
OMIM:613796 |
Albers-Schönberg Osteopetrosis |
|
Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Generalized osteosclerosis, Osteoar... |
ORPHA:53 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Eosinophilia, Recurrent infections, Decreased circulating antibody level, Erythroderma, Lymphopenia |
OMIM:617425 |
Paget Disease Of Bone 3 |
|
Fractures of the long bones, Osteolysis, Patchy osteosclerosis |
OMIM:167250 |
Exudative Vitreoretinopathy 1 |
|
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Vitreous hemorrhage, ... |
OMIM:133780 |
Slc35A2-Cdg |
|
Osteopenia, Limb joint contracture, Camptodactyly of finger, Craniosynostosis, Coxa valga, Metata... |
ORPHA:356961 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Brachydactyly, Delayed ossification of carpal bones, Short femoral neck, Reduced bone mineral den... |
OMIM:618392 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Skin rash, Autoimmunity, Recurrent viral infections, Recurrent mycobacterial infections, Recurren... |
ORPHA:275 |
Immunodeficiency 7 |
|
Recurrent respiratory infections, Autoimmune hemolytic anemia, Chronic oral candidiasis, Splenome... |
OMIM:615387 |
Eosinophilic Gastroenteritis |
|
Allergic rhinitis, Eosinophilia, Elevated circulating C-reactive protein concentration, Asthma, L... |
ORPHA:2070 |
Achondrogenesis Type 2 |
|
Delayed vertebral ossification, Absent vertebral body mineralization, Micromelia, Hypoplastic ili... |
ORPHA:93296 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Recurrent sinopulmonary infections, Enterocolitis, Ulcerative colitis, Decreased proportion of cl... |
OMIM:614878 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Osteomyelitis, Skin rash, Pustule, Osteolysis, Fused cervical vertebrae, Joint swelli... |
OMIM:612852 |
Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Postaxial polydactyly, Micrognathia, Hand polydactyly, Foot polydactyly, Short fi... |
OMIM:258860 |
Rat-Bite Fever |
|
Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Myocarditis, Lymphadenitis, P... |
ORPHA:31205 |
Shigellosis |
|
Hyponatremia, Pneumonia, Abscess, Myocarditis, Peritonitis, Leukocytosis, Thrombocytopenia, Sepsi... |
ORPHA:810 |
Eosinophilopenia |
|
Decreased eosinophil count, Allergic rhinitis |
OMIM:131430 |
Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Increased circulating IgE level |
ORPHA:89843 |
Osteogenesis Imperfecta, Type X |
|
Osteopenia, Joint laxity, Bowing of the long bones, Short femur, Rhizomelia, Micromelia, Microgna... |
OMIM:613848 |
Beukes Hip Dysplasia |
|
Osteoarthritis, Shallow acetabular fossae |
OMIM:142669 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Increased circulating IgE level |
ORPHA:1858 |
Listeriosis |
|
Liver abscess, Abnormal cellular immune system morphology, Sepsis, Granulomatosis, Conjunctivitis... |
ORPHA:533 |
Wilson Disease |
|
Hepatitis, Arthritis, Joint swelling, Acute hepatitis, Pathologic fracture |
ORPHA:905 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Increased CD4:CD8 ratio, Skin rash, Neutrophilic infiltration of the skin, Elevated circulating C... |
OMIM:618048 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Recurrent respiratory infections, Splenomegaly, Leukocytosis, Intraalveolar phospholipid accumula... |
OMIM:618042 |
Atelosteogenesis Type Iii |
|
Absent humerus, Epiphyseal stippling of the humerus, Short tubular bones of the hand, Abnormality... |
ORPHA:56305 |
Netherton Syndrome |
|
Recurrent respiratory infections, Skin rash, Eczema, Asthma, Increased circulating IgE level, Dec... |
ORPHA:634 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent enteroviral infections, Recurrent pneumonia, Bronchie... |
OMIM:601495 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Elevated circulating creatine kinase concentration, Abnormal left ventricula... |
ORPHA:99827 |
Immunodeficiency 12 |
|
Skin rash, Abnormal lymphocyte count, Decreased lymphocyte proliferation in response to anti-CD3,... |
OMIM:615468 |
Odontomatosis-Aortae Esophagus Stenosis Syndrome |
|
Myocarditis |
ORPHA:2724 |
Osteomesopyknosis |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2777 |
Selective Igm Deficiency |
|
Fasciitis, Recurrent staphylococcal infections, Lymphadenitis, Paraproteinemia, Sepsis, Recurrent... |
ORPHA:331235 |
Intermediate Osteopetrosis |
|
Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Increased sus... |
ORPHA:210110 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Finger syndactyly, Increased bone mineral density, Aplastic clavicle, Abnormal metacarpal morphol... |
ORPHA:2658 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Recurrent respiratory infections, Pneumonia, Autoimmunity, Autoimmune thrombocytopenia, Antinucle... |
OMIM:607944 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 |
|
Myositis, Eosinophilia, Elevated circulating creatine kinase concentration |
OMIM:253600 |
Epiphyseal Dysplasia, Multiple, 3 |
|
Osteoarthritis, Delayed epiphyseal ossification, Limited elbow extension, Limited knee extension,... |
OMIM:600969 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Skin rash, Glomerulonephritis, Autoimmunity, Synovitis, Arthritis, Anti-dsDNA antibody positivity... |
ORPHA:567544 |
Pseudopseudohypoparathyroidism |
|
Short distal phalanx of the 3rd finger, Short metatarsal, Short 5th finger, Short distal phalanx ... |
ORPHA:79445 |
Stuve-Wiedemann Syndrome 1 |
|
Micrognathia, Knee flexion contracture, Femoral bowing, Tibial bowing, Short tibia, Short phalanx... |
OMIM:601559 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Short femur, Foot oligodactyly, Amelia |
OMIM:601357 |
Chilblain Lupus |
|
Inflammatory abnormality of the skin, Skin rash, Discoid lupus rash, Asthma, Chronic myelomonocyt... |
ORPHA:90280 |
Colchicine Poisoning |
|
Hyponatremia, Myocarditis, Congestive heart failure, Leukocytosis, Hypovolemia, Abnormal blood io... |
ORPHA:31824 |
Microcephaly-Micromelia Syndrome |
|
Craniosynostosis, Absent thumb, Absent radius, Micromelia, Micrognathia, Humeroradial synostosis,... |
OMIM:251230 |
Cystic Echinococcosis |
|
Multiple pulmonary cysts, Pulmonary cyst, Eosinophilia, Abscess, Asthma, Membranous nephropathy, ... |
ORPHA:400 |
Simpson-Golabi-Behmel Syndrome, Type 2 |
|
Recurrent respiratory infections, Postaxial hand polydactyly, Recurrent upper respiratory tract i... |
OMIM:300209 |
Systemic Sclerosis |
|
Pericarditis, Osteomyelitis, Recurrent skin infections, Nail bed telangiectasia, Glomerulonephrit... |
ORPHA:90291 |
Idiopathic Acute Eosinophilic Pneumonia |
|
Abnormal eosinophil morphology, Abnormal pleura morphology, Respiratory insufficiency, Restrictiv... |
ORPHA:724 |
Brachydactyly, Type B1 |
|
Type B brachydactyly, Vertebral fusion, Syndactyly, Hypoplastic sacrum, Aplasia/Hypoplasia of the... |
OMIM:113000 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Eosinophilia, Recurrent viral infections, Asthma, Atopic dermatitis, Hepatosplenomegaly, Membrano... |
OMIM:618999 |
Transcobalamin Deficiency |
|
Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,... |
ORPHA:859 |
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Abnormal tibia morphology, Fibul... |
ORPHA:2634 |
Immunodeficiency 70 |
|
Decreased circulating total IgG, Furuncle, Decreased circulating antibody level, Decreased circul... |
OMIM:618969 |
Eosinophilic Fasciitis |
|
Fasciitis, Abnormal eosinophil morphology, Myositis, Eosinophilia, Arthritis |
ORPHA:3165 |
Dentin Dysplasia |
|
Increased bone mineral density |
ORPHA:1653 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Recurrent viral infections, T lymphocytopenia, Recurrent abscess formation, Cough, Recurrent aspi... |
ORPHA:79124 |
Osteopetrosis, Autosomal Recessive 8 |
|
Osteopetrosis |
OMIM:615085 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Increased bone mineral density, Coxa valga, Micrognathia, Wide anterior fontanel, Flat acetabular... |
ORPHA:163649 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Recurrent urinary tract infections, Sinusitis, Enteroviral dermatomyositis syndrome, Pneumonia, R... |
OMIM:307200 |
Dent Disease 1 |
|
Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Osteomalacia, Bowing of the le... |
OMIM:300009 |
Mu-Heavy Chain Disease |
|
Splenomegaly, Abnormal B cell count, Increased circulating antibody level, Anemia |
ORPHA:100024 |
Diarrhea 5, With Tufting Enteropathy, Congenital |
|
Arthritis |
OMIM:613217 |
Immunodeficiency, Common Variable, 4 |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:613494 |
Multiple Epiphyseal Dysplasia, Beighton Type |
|
Osteoarthritis, Coxa vara, Pedal edema, Double-layered patella, Abnormal hip joint morphology, Ar... |
ORPHA:166011 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bowing of the legs, Subperiost... |
OMIM:264700 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic gastritis, Liver abscess, Cholangitis, Bronchitis, Sepsis, Cholecystitis, Decreased circu... |
ORPHA:183675 |
Microphthalmia With Limb Anomalies |
|
Micrognathia, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of... |
ORPHA:1106 |
Kawasaki Disease |
|
Pericarditis, Abnormal heart valve morphology, Skin rash, Myocarditis, Congestive heart failure, ... |
ORPHA:2331 |
Osteopetrosis, Autosomal Recessive 7 |
|
Abnormal trabecular bone morphology, Femur fracture, Osteopetrosis |
OMIM:612301 |
Osteopoikilosis And Dacryocystitis |
|
Osteopoikilosis |
OMIM:166705 |
Adult Acute Respiratory Distress Syndrome |
|
Increased circulating interleukin 6 concentration, Pneumonia, Dyspnea, Sepsis, Abnormal circulati... |
ORPHA:70578 |
Odontochondrodysplasia 1 |
|
Short metacarpal, Brachydactyly, Genu recurvatum, Micromelia, Metaphyseal widening, Osteoporosis,... |
OMIM:184260 |
Osteogenesis Imperfecta, Type Xiv |
|
Osteopenia, Recurrent fractures, Femoral bowing, Increased susceptibility to fractures |
OMIM:615066 |
Melorheostosis |
|
Increased bone mineral density, Joint stiffness, Lymphedema, Arthritis, Ectopic ossification in m... |
ORPHA:2485 |
Laurin-Sandrow Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Talipes, A... |
ORPHA:2378 |
Immunodeficiency 44 |
|
Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati... |
OMIM:616636 |
Vitamin D-Dependent Rickets, Type 2A |
|
Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bowing of the legs, Subperiost... |
OMIM:277440 |
Craniometaphyseal Dysplasia, Autosomal Dominant |
|
Metaphyseal widening, Cranial hyperostosis, Flared metaphysis, Sclerosis of skull base, Abnormal ... |
OMIM:123000 |
Complement Factor I Deficiency |
|
Recurrent urinary tract infections, Recurrent skin infections, Glomerulonephritis, Recurrent Haem... |
OMIM:610984 |
Macrophage Activation Syndrome |
|
Increased inflammatory response, Increased circulating interleukin 6 concentration, Elevated circ... |
ORPHA:158061 |
Pachydermoperiostosis |
|
Osteomyelitis, Acne, Edema, Seborrheic dermatitis, Limitation of joint mobility, Osteoporosis, Os... |
ORPHA:2796 |
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia |
|
Hip osteoarthritis |
OMIM:619248 |
Orofaciodigital Syndrome Ix |
|
Short tibia, Toe syndactyly, Hand polydactyly, Camptodactyly |
OMIM:258865 |
Ophthalmomandibulomelic Dysplasia |
|
Radial bowing, Coxa valga, Ulnar deviated club hands, Lateral humeral condyle aplasia, Fibular hy... |
OMIM:164900 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce... |
ORPHA:35078 |
Reticular Dysgenesis |
|
Recurrent respiratory infections, Skin rash, Abnormality of neutrophils, Sepsis, Decreased circul... |
ORPHA:33355 |
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature |
|
Recurrent upper respiratory tract infections, Bronchiectasis, Decreased circulating total IgM, Re... |
OMIM:615139 |
Interstitial Lung Disease 2 |
|
Dyspnea, Alveolar cell carcinoma, Increased circulating antibody level, Pulmonary fibrosis, Eleva... |
OMIM:178500 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Acne, Elbow flexion contracture, Sterile arthritis, Knee flexion contracture, Arthritis, Colitis,... |
OMIM:604416 |
Laron Syndrome |
|
Limb undergrowth, Short long bone |
OMIM:262500 |
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii |
|
Short metatarsal, Type E brachydactyly, Short 4th metacarpal |
OMIM:113301 |
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Abnormally ossified vertebrae, Restricted large joint movement, Micrognathia, Flared metaphysis, ... |
ORPHA:93346 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Short tubular bones of the hand, Delayed epiphyseal ossification, Metaphyseal widening, Short met... |
ORPHA:93314 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Sepsis, Leukopenia, Hypoplasia of the thymus, Otitis media, Neutropenia, Perianal abscess, Respir... |
OMIM:612541 |
Felty Syndrome |
|
Episcleritis, Recurrent respiratory infections, Recurrent urinary tract infections, Sinusitis, Pe... |
ORPHA:47612 |
Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Recurrent respiratory infections, Osteoarthritis, Delayed epiphyseal ossification |
OMIM:618618 |
Angiostrongyliasis |
|
Increased circulating IgA level, Hypereosinophilia, Increased circulating specific IgE antibody, ... |
ORPHA:74 |
Roifman Syndrome |
|
Eczema, Eosinophilia, Splenomegaly, Recurrent pneumonia, Recurrent otitis media |
OMIM:616651 |
Schnitzler Syndrome |
|
Skin rash, Splenomegaly, Leukocytosis, Increased circulating IgM level, Arthritis, Anemia |
ORPHA:37748 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Bronchiectasis, Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decrea... |
OMIM:619705 |
Immunodeficiency, Common Variable, 13 |
|
Pancytopenia, Decreased circulating antibody level, Acute lymphoblastic leukemia, Recurrent bacte... |
OMIM:616873 |
Cd8 Deficiency, Familial |
|
Recurrent respiratory infections, Bronchiectasis, Recurrent bacterial infections, Recurrent viral... |
OMIM:608957 |
Adenocarcinoma Of The Esophagus |
|
Barrett esophagus, Esophageal carcinoma, Obesity, Gastroesophageal reflux, Clinodactyly of the 5t... |
ORPHA:99976 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Lymphopenia, Recurrent skin... |
OMIM:620210 |
Farber Disease |
|
Abnormality of the knee, Abnormality of the elbow, Recurrent upper respiratory tract infections, ... |
ORPHA:333 |
Cyclic Neutropenia |
|
Sinusitis, Recurrent skin infections, Cyclic neutropenia, Perianal abscess, Respiratory tract inf... |
ORPHA:2686 |
Trichorhinophalangeal Syndrome, Type Iii |
|
Osteopenia, Short metacarpal, Avascular necrosis of the capital femoral epiphysis, Short metatars... |
OMIM:190351 |
Osteopetrosis, Autosomal Recessive 5 |
|
Increased bone mineral density, Micrognathia, Cranial hyperostosis, Flared metaphysis, Decreased ... |
OMIM:259720 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Proximal placement of thumb, Micrognathia, Aplasia of the epiglottis, Clinodactyly of the 5th fin... |
OMIM:268305 |
Isolated Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Sinusitis, Skin rash, Pn... |
ORPHA:229717 |
Brachydactyly-Nystagmus-Cerebellar Ataxia |
|
Short metacarpal, Short metatarsal, Brachydactyly |
OMIM:113400 |
Vitreoretinochoroidopathy |
|
Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re... |
OMIM:193220 |
Aicardi-Goutieres Syndrome 2 |
|
Lymphocytosis |
OMIM:610181 |
Spondylosis, Cervical |
|
Osteoarthritis |
OMIM:184300 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Short metacarpal, Rhizomelia, Joint stiffness, Metaphyseal widening, Coxa vara, Femoral bowing, T... |
OMIM:608940 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Neutrophilia, Pneumonia, Periodontitis, Recurrent otitis media, Reduction of neutrophil motility,... |
OMIM:266265 |
Systemic Lupus Erythematosus |
|
Pericarditis, Antiphospholipid antibody positivity, Lupus nephritis, Antinuclear antibody positiv... |
OMIM:152700 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Glomerulonephritis, Thrombocytopenia, Increased circulating IgA level |
OMIM:314000 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Tegumentary leishmaniasis susceptibility, Pneumonia, Lymphadenitis, Recurrent mycobacterial infec... |
ORPHA:319552 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Brain abscess, Hypertensive crisis, Increased circulating interleukin 6 concentrati... |
ORPHA:544482 |
C1Q Deficiency 1 |
|
Autoimmunity, Systemic lupus erythematosus |
OMIM:613652 |
Dysosteosclerosis |
|
Craniofacial hyperostosis, Increased bone mineral density, Recurrent fractures, Hypoplastic verte... |
ORPHA:1782 |
Autosomal Agammaglobulinemia |
|
Recurrent respiratory infections, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections,... |
ORPHA:33110 |
Lymphoproliferative Syndrome 2 |
|
Pancytopenia, Aplastic anemia, Splenomegaly, Recurrent pneumonia, EBV encephalitis, Uveitis, Hepa... |
OMIM:615122 |
Bare Lymphocyte Syndrome, Type Ii |
|
Viral hepatitis, Recurrent urinary tract infections, Cholangitis, Recurrent viral infections, Rec... |
OMIM:209920 |
Vertical Talus, Congenital |
|
Arthritis |
OMIM:192950 |
Igg4-Related Pachymeningitis |
|
Sinusitis, Eosinophilia, Increased circulating IgG4 level, Elevated circulating C-reactive protei... |
ORPHA:449427 |
Immunodeficiency 49 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Psoriasiform dermatitis, Eosinophilia... |
OMIM:617237 |
Hyperparathyroidism, Transient Neonatal |
|
Osteopenia, Short femur, Recurrent fractures, Metaphyseal spurs, Femoral bowing, Subperiosteal bo... |
OMIM:618188 |
Smith-Mccort Dysplasia 2 |
|
Pes planus, Short metacarpal, Enlarged interphalangeal joints, Broad femoral neck, Broad metatars... |
OMIM:615222 |
Desmosterolosis |
|
Increased bone mineral density, Talipes, Micromelia, Micrognathia, Metatarsus adductus, Osteopetr... |
ORPHA:35107 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Pustule, Increased circulating IgE level, Blepharitis, Erythroderma |
OMIM:614328 |
Spondyloepiphyseal Dysplasia, Kimberley Type |
|
Osteoarthritis |
ORPHA:93283 |
Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Sinusitis, Recurrent urinary tract infections, Impaired T cell funct... |
OMIM:613179 |
Thalidomide Embryopathy |
|
Aplasia/Hypoplasia of the thumb, Aplasia/hypoplasia of the humerus, Preaxial hand polydactyly, Ra... |
ORPHA:3312 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Sinusitis, Pneumonia, Bronchiectasis, Increased circulating IgM level, T lymphocytopenia, Chronic... |
OMIM:242860 |
Thrombocytopenia 1 |
|
Eczema, Epistaxis, Increased circulating IgA level, Increased circulating IgE level, Decreased me... |
OMIM:313900 |
Leishmaniasis |
|
Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Anemia, Leukopenia, Rhinitis, Increas... |
ORPHA:507 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Macrocytic anemia, Pancytopenia, Eczema, Anemia of inadequate production, Megaloblastic anemia, R... |
OMIM:617780 |
Drug-Induced Lupus Erythematosus |
|
Pericarditis, Decreased circulating complement C4 concentration, Elevated circulating creatine ki... |
ORPHA:231111 |
Zygomycosis |
|
Fasciitis, Sinusitis, Acute infectious pneumonia, Colitis, Neutropenia, Nephritis, Infectious enc... |
ORPHA:73263 |
Brachyolmia Type 1, Toledo Type |
|
Broad tibial metaphyses, Precocious costochondral ossification, Short femoral neck |
OMIM:271630 |
Immunodeficiency 13 |
|
Lymphopenia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Bronchiectasis, B... |
OMIM:615518 |
Immunodeficiency, Common Variable, 14 |
|
Psoriasiform dermatitis, Decreased proportion of class-switched memory B cells, Decreased circula... |
OMIM:617765 |
Necrobiosis Lipoidica |
|
Inflammatory abnormality of the skin, Granuloma, Telangiectasia of the skin, Abnormality of neutr... |
ORPHA:542592 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Arthropathy, Joint stiffness, Osteoporosis, Arthritis, Joint swelling, Stiff interphalangeal joints |
ORPHA:465508 |
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome |
|
Abnormal thumb morphology, Obesity, Type A brachydactyly, Abnormal metacarpal morphology |
ORPHA:1078 |
Microsporidiosis |
|
Myositis, Sinusitis, Cholangitis, Lymphadenitis, Abnormality of the spleen, Sepsis, Nephritis, In... |
ORPHA:2552 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Shortening of the talar neck, Osteomalacia, Bowing of the legs, Osteoarthritis, Rickets, Trapezoi... |
OMIM:307800 |
Desbuquois Dysplasia 1 |
|
Triangular shaped phalanges of the hand, Osteoarthritis, Metaphyseal widening, Short metatarsal, ... |
OMIM:251450 |
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia |
|
Joint laxity, Coxa valga, Advanced ossification of carpal bones, Knee dislocation, Short long bon... |
OMIM:620269 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Autoimmune hemolytic anemia, Osteomyelitis, Impaired Ig class switch recombination, Autoimmune th... |
OMIM:608184 |
Brachydactyly, Type E2 |
|
Short metacarpal, Short metatarsal, Brachydactyly |
OMIM:613382 |
Moyamoya Disease 1 |
|
Inflammatory arteriopathy, Telangiectasia |
OMIM:252350 |
Osteogenesis Imperfecta, Type Xiii |
|
Angulated humerus, Increased bone mineral density, Arachnodactyly, Recurrent fractures, Wide dist... |
OMIM:614856 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Joint laxity, Metaphyseal dysplasia, Brachydactyly, Irregular iliac crest, Metaphyseal widening, ... |
OMIM:250420 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Osteoporosis, Gout |
OMIM:610947 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Coarse metaphyseal trabecularization, Metaphyseal widening, Squared iliac bones, Short long bone,... |
OMIM:618961 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Microretrognathia, Hip contracture, Pes planus, Coxa valga, Micrognathia, Advanced ossification o... |
OMIM:618363 |
Immunodeficiency 96 |
|
Eczema, Increased proportion of gamma-delta T cells, Recurrent infections, Decreased circulating ... |
OMIM:619774 |
Whim Syndrome |
|
Sinusitis, Severe periodontitis, Pneumonia, Respiratory tract infection, Lymphadenitis, Atelectas... |
ORPHA:51636 |
Sjogren Syndrome |
|
Autoimmunity, Xerostomia, Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Rheumatoid ar... |
OMIM:270150 |
Flynn-Aird Syndrome |
|
Increased bone mineral density, Osteoporosis, Increased bone density with cystic changes, Joint s... |
OMIM:136300 |
Bone Marrow Failure Syndrome 4 |
|
Recurrent respiratory infections, Eczema, Decreased circulating antibody level, Anemia, Leukopeni... |
OMIM:618116 |
Immunodeficiency 27B |
|
Recurrent mycobacterial infections, Osteomyelitis, Recurrent mycobacterium avium complex infectio... |
OMIM:615978 |
Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Pes planus, Thin bony cortex, Rhizomelia, Femoral bowing, Short 4th metacarpal, Broad thumb, Shor... |
OMIM:619638 |
Alkaptonuria |
|
Joint dislocation, Joint stiffness, Osteoarthritis, Reduced bone mineral density, Arthritis, Join... |
ORPHA:56 |
Esophagitis, Eosinophilic, 2 |
|
Eosinophilia, Esophagitis |
OMIM:613412 |
Esophagitis, Eosinophilic, 1 |
|
Eosinophilia, Esophagitis |
OMIM:610247 |
Fatco Syndrome |
|
Finger syndactyly, Tarsal synostosis, Abnormal tibia morphology, Split hand, Absent hand, Abnorma... |
ORPHA:2492 |
Dysosteosclerosis |
|
Osteopenia, Sclerosis of hand bone, Sclerotic scapulae, Micrognathia, Absent frontal sinuses, Abn... |
OMIM:224300 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Osteopenia, Stenosis of the medullary cavity of the long bones, Diaphyseal cortical sclerosis, Pa... |
OMIM:112250 |
Muscular Dystrophy, Becker Type |
|
Cardiomyopathy, Arrhythmia, Abnormal EKG, Elevated circulating creatine kinase concentration |
OMIM:300376 |
Grant Syndrome |
|
Tibial bowing, Down-sloping shoulders, Micrognathia |
OMIM:138930 |
Chikungunya |
|
Maculopapular exanthema, Skin rash, Joint stiffness, Facial edema, Erythema nodosum, Crusting ery... |
ORPHA:324625 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Aplasia of the thymus, Recurrent viral infections, Recurrent bronchopulmonary infections, Recurre... |
OMIM:242700 |
Maturity-Onset Diabetes Of The Young, Type 11 |
|
Overweight, Obesity |
OMIM:613375 |
Spermatogenic Failure, X-Linked, 1 |
|
Sertoli cell-only phenotype, Obesity |
OMIM:305700 |
X-Linked Hypophosphatemia |
|
Shortening of the talar neck, Bowing of the long bones, Craniosynostosis, Bowing of the legs, Gen... |
ORPHA:89936 |
Autosomal Recessive Malignant Osteopetrosis |
|
Bowing of the long bones, Recurrent fractures, Craniosynostosis, Reduced bone mineral density, Os... |
ORPHA:667 |
Allergic Bronchopulmonary Aspergillosis |
|
Abnormal eosinophil morphology, Asthma, Bronchiectasis, Respiratory insufficiency, Cough, Pulmona... |
ORPHA:1164 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Bicuspid aortic valve, Recurrent skin infections, Decreased circulating antibody level, Hypocysti... |
OMIM:617744 |
Lead Poisoning |
|
Skin rash, Asthma, Increased circulating IgE level, Imbalanced hemoglobin synthesis, Abnormal res... |
ORPHA:330015 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Ulnar bowing, Split hand, Mesomeli... |
OMIM:171480 |
Hypotrichosis Simplex Of The Scalp |
|
Atopic dermatitis, Increased circulating IgE level, Allergic rhinitis |
ORPHA:90368 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Osteopetrosis |
OMIM:612840 |
Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Neutrophilia, Pneumonia, Elevated circulating C-reactive protein concentrat... |
ORPHA:36238 |
Arterial Tortuosity Syndrome |
|
Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Myocarditis, Congestive heart ... |
ORPHA:3342 |
Relapsing Polychondritis |
|
Abnormal endocardium morphology, Episcleritis, Pericarditis, Chondritis of pinna, Keratitis, Myoc... |
ORPHA:728 |
Spondylometaphyseal Dysplasia, Algerian Type |
|
Metaphyseal dysplasia, Bowed humerus, Short tubular bones of the hand, Tibial metaphyseal irregul... |
OMIM:184253 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating interleukin 6 concentration, Maculopapular exanthema, Skin rash, Reduced na... |
ORPHA:540 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Abnormally ossified vertebrae, Radial bowing, Bowing of the long bones, Micrognathia, Abnormality... |
ORPHA:3035 |
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Increased bone mineral density, Craniosynostosis |
ORPHA:178377 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Osteopetrosis |
OMIM:618541 |
Asthma, Short Stature, And Elevated Iga |
|
Asthma, Increased circulating IgA level |
OMIM:208600 |
Scorpion Envenomation |
|
Bundle branch block, Tachycardia, Acute pancreatitis, Increased circulating NT-proBNP concentrati... |
ORPHA:466677 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Craniosynostos... |
ORPHA:289176 |
Acrocephalopolydactyly |
|
Limb undergrowth, Short long bone, Genu recurvatum, Brachydactyly |
ORPHA:221054 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Enlargement of the ankles, Osteomalacia, Irregular, rachitic-like metaphyses, Subperiosteal bone ... |
ORPHA:289157 |
Congenital Pseudoarthrosis Of The Clavicle |
|
Osteoarthritis |
ORPHA:66630 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Decreased proportion of naive T cells, Sinusitis, Sepsis, Recurrent candida infections, T lymphoc... |
ORPHA:83471 |
Common Variable Immunodeficiency |
|
Hemolytic anemia, Recurrent respiratory infections, Pneumonia, Autoimmune thrombocytopenia, Splen... |
ORPHA:1572 |
Ruvalcaba Syndrome |
|
Short metacarpal, Micromelia, Limited elbow extension, Short metatarsal, Small hand, Short foot, ... |
OMIM:180870 |
Stuve-Wiedemann Syndrome 2 |
|
Bowing of the long bones, Short long bone, Camptodactyly |
OMIM:619751 |
Acromesomelic Dysplasia 3 |
|
Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st metacarpal, Widene... |
OMIM:609441 |
Dacryocystitis-Osteopoikilosis Syndrome |
|
Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Microretrognathia, Rhizomelia, Postaxial polydactyly, Squared iliac bones, Preaxial polydactyly, ... |
OMIM:616300 |
Igg4-Related Submandibular Gland Disease |
|
Eosinophilia, Increased circulating IgG4 level, Cholangitis, Increased circulating IgE level, Inc... |
ORPHA:449432 |
Faciocardiomelic Dysplasia, Lethal |
|
Hypoplasia of the ulna, Radial deviation of the hand, Talipes, Micrognathia, Short thumb, Hypopla... |
OMIM:227270 |
Kikuchi-Fujimoto Disease |
|
Skin rash, Elevated circulating C-reactive protein concentration, Pustule, Myocarditis, Thrombocy... |
ORPHA:50918 |
Sweet Syndrome |
|
Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Increased circulating inter... |
ORPHA:3243 |
Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
|
Atopic dermatitis, Retinal neovascularization |
OMIM:619074 |
Chromosome 8Q22.1 Duplication Syndrome |
|
Hallux valgus, Short metacarpal, Enlarged interphalangeal joints, Genu recurvatum, Interphalangea... |
OMIM:151200 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ... |
OMIM:613091 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Autoimmune hemolytic anemia, Eczema, Autoimmune thrombocytopenia, Desquamative interstitial pneum... |
OMIM:615952 |
Von Hippel-Lindau Disease |
|
Papilledema, Retinal detachment, Hypertensive retinopathy, Myocardial infarction, Myocarditis, Ma... |
ORPHA:892 |
Pseudopseudohypoparathyroidism |
|
Short metacarpal, Osteoporosis, Short metatarsal, Brachydactyly |
OMIM:612463 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Osteopenia, Joint laxity, Contracture of the proximal interphalangeal joint of the 2nd finger, De... |
OMIM:130060 |
Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Dyspnea, Reticulocytopenia, Bone marrow hypocellularity, Neut... |
ORPHA:101096 |
Melorheostosis, Isolated |
|
Hyperostosis, Increased bone mineral density |
OMIM:155950 |
Paget Disease Of Bone 6 |
|
Osteoarthritis, Recurrent fractures |
OMIM:616833 |
Spondylometaphyseal Dysplasia, Schmidt Type |
|
Metaphyseal dysplasia, Abnormality of the knee, Irregular iliac crest, Abnormality of the epiphys... |
ORPHA:93316 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Lymphopenia, Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Hyper... |
ORPHA:508533 |
Progressive Osseous Heteroplasia |
|
Osteoarthritis, Limitation of joint mobility, Ectopic ossification in muscle tissue |
ORPHA:2762 |
X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Recurrent bacterial infections, Neutropenia |
ORPHA:86788 |
Progressive Multifocal Leukoencephalopathy |
|
Abnormal astrocyte morphology, Decreased proportion of CD8-positive T cells, Abnormal oligodendro... |
ORPHA:217260 |
Papa Syndrome |
|
Increased inflammatory response, Myositis, Acne, Pustule, Limitation of joint mobility, Arthritis... |
ORPHA:69126 |
Spondyloperipheral Dysplasia |
|
Short distal phalanx of the 4th finger, Short metatarsal, Hypoplasia of the ulna, Short metacarpa... |
OMIM:271700 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Chronic gastritis, Increased circulating interleukin 6 concentration, Recurrent respiratory infec... |
OMIM:301074 |
Oligoarticular Juvenile Idiopathic Arthritis |
|
Autoimmunity, Antinuclear antibody positivity, Knee osteoarthritis, Oligoarthritis, Uveitis, Abno... |
ORPHA:85410 |
Insulin Autoimmune Syndrome |
|
Autoimmune antibody positivity, Arthralgia/arthritis, Autoimmunity, Systemic lupus erythematosus |
ORPHA:411593 |
Patella Aplasia-Hypoplasia |
|
Patellar aplasia, Patellar hypoplasia |
OMIM:168860 |
Igg4-Related Kidney Disease |
|
Elevated circulating C-reactive protein concentration, Lymphadenitis, Abnormal lung morphology, D... |
ORPHA:449395 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Chronic oral candidiasis, Autoimmune hemolytic anemia, Splenomegaly, Recurrent infections, B lymp... |
OMIM:301078 |
Acute Generalized Exanthematous Pustulosis |
|
Predominantly dermal neutrophilic infiltrate, Neutrophilia, Eosinophilia, Pustule, Dyspnea, Leuko... |
ORPHA:293173 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... |
ORPHA:98849 |
Immunodeficiency 110 With Lymphoproliferation |
|
Autoimmune hemolytic anemia, Recurrent skin infections, Recurrent viral infections, Recurrent upp... |
OMIM:614868 |
Epiphyseal Dysplasia, Multiple, 6 |
|
Abnormality of the knee, Osteoarthritis |
OMIM:614135 |
Simple Cryoglobulinemia |
|
Gastrointestinal hemorrhage, Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephri... |
ORPHA:91139 |
Dermatomyositis |
|
Recurrent respiratory infections, Pericarditis, Abnormal eosinophil morphology, Telangiectasia of... |
ORPHA:221 |
Lymphoproliferative Syndrome 1 |
|
Pancytopenia, Autoimmune hemolytic anemia, Stomatitis, Elevated circulating C-reactive protein co... |
OMIM:613011 |
Alveolar Echinococcosis |
|
Liver abscess, Pulmonary cyst, Eosinophilia, Cholangitis, Dyspnea, Abnormal spleen morphology, In... |
ORPHA:284 |
Coccidioidomycosis |
|
Respiratory distress, Abnormality of the spleen, Increased circulating IgG level, Cough, Morbilli... |
ORPHA:228123 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hy... |
OMIM:609945 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Short humerus, Short femur, Sandal gap, Rhizomelia, Hypoplasia of the radius, Short ribs, Talipes... |
OMIM:607143 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Chronic oral candidiasis, Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Neu... |
OMIM:150550 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Recurrent respiratory infections, Median cleft palate, Large for gestational age |
ORPHA:2432 |
Immunoglobulin Kappa Light Chain Deficiency |
|
Recurrent respiratory infections, Recurrent infections, Abnormal immunoglobulin level |
OMIM:614102 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis |
OMIM:241520 |
Pfapa Syndrome |
|
Arthritis, Infectious encephalitis, Recurrent pharyngitis |
ORPHA:42642 |
Wells Syndrome |
|
Eosinophilia |
ORPHA:901 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Joint swelling, Panniculitis, Skin rash |
OMIM:617099 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Recurrent respiratory infections, Myositis, Skin rash, Elevated circulating C-reactive protein co... |
OMIM:615934 |
Immunodeficiency 75 With Lymphoproliferation |
|
Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Bronchie... |
OMIM:619126 |
Omodysplasia 1 |
|
Short humerus, Increased fibular diameter, Rhizomelia, Micrognathia, Limited knee flexion, Limite... |
OMIM:258315 |
Felty Syndrome |
|
Rheumatoid arthritis |
OMIM:134750 |
Kniest Dysplasia |
|
Hip contracture, Rhizomelia, Dumbbell-shaped long bone, Abnormal cartilage collagen, Delayed epip... |
OMIM:156550 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Reduced natural killer cell activity, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia |
OMIM:608898 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Osteopenia, Short fourth metatarsal, Tibial metaphyseal irregularity, Coxa vara, Flattened femora... |
ORPHA:457395 |
Good Syndrome |
|
Abnormal leukocyte morphology, Recurrent respiratory infections, Recurrent urinary tract infectio... |
ORPHA:169105 |
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans |
|
Hip osteoarthritis, Premature osteoarthritis, Osteochondritis dissecans |
OMIM:165800 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Joint laxity, Bowing of the legs, Delayed epiphyseal ossification, Premature osteoarthritis, Meta... |
ORPHA:93352 |
Trichodentoosseous Syndrome |
|
Increased bone mineral density |
OMIM:190320 |
Neonatal Alloimmune Neutropenia |
|
Pneumonia, Sepsis, Neutropenia in presence of anti-neutropil antibodies |
ORPHA:464370 |
Angel-Shaped Phalango-Epiphyseal Dysplasia |
|
Hip osteoarthritis, Joint hyperflexibility |
ORPHA:63442 |
Orofaciodigital Syndrome Vi |
|
11 pairs of ribs, Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxi... |
OMIM:277170 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Recurrent respiratory infections, Psoriasiform dermatitis, Recurrent skin infections, Eosinophili... |
OMIM:615508 |
Urban-Rogers-Meyer Syndrome |
|
Increased circulating IgE level |
ORPHA:3409 |
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly |
|
Abnormality of the knee, Abnormality of the epiphyses of the elbow, Osteoarthritis, Genu valgum, ... |
ORPHA:166002 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... |
OMIM:608203 |
Dysplasia Epiphysealis Hemimelica |
|
Recurrent fractures, Tarsal synostosis, Joint stiffness, Osteoarthritis, Genu valgum, Genu varum |
ORPHA:1822 |
Interstitial Granulomatous Dermatitis With Arthritis |
|
Inflammatory abnormality of the skin, Rheumatoid factor positive, Rheumatoid arthritis |
ORPHA:79099 |
Bardet-Biedl Syndrome 11 |
|
Polydactyly, Obesity |
OMIM:615988 |
Fibrochondrogenesis 2 |
|
Micrognathia, Hypoplastic ilia, Metaphyseal widening, Hypoplastic pubic bone, Short long bone, Sh... |
OMIM:614524 |
Eiken Syndrome |
|
Broad femoral neck, Delayed epiphyseal ossification, Flat acetabular roof, Fibular hypoplasia, Fl... |
OMIM:600002 |
Osteogenesis Imperfecta, Type Xvi |
|
Osteopenia, Angulated humerus, Bowing of the long bones, Microretrognathia, Rhizomelia, Recurrent... |
OMIM:616229 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Postaxial polydactyly, Micrognathia, Wide anterior fontanel, Preaxial polydactyly, Hypoplastic pu... |
OMIM:617925 |
Obesity |
|
Increased waist to hip ratio, Obesity |
OMIM:601665 |
Ebola Hemorrhagic Fever |
|
Acute pancreatitis, Maculopapular exanthema, Dyspnea, Hepatitis, Sepsis, Leukopenia, Increased ci... |
ORPHA:319218 |
Muscular Dystrophy, Cardiac Type |
|
Cardiomyopathy, Abnormal EKG, Elevated circulating creatine kinase concentration |
OMIM:309930 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Myositis, Sinusitis, Skin rash, Splenomegaly, Recurrent infections, Anemia, Arthritis, Panniculit... |
OMIM:617591 |
Immunodeficiency 68 |
|
Septic arthritis, Lymphadenitis, Recurrent skin infections, Sepsis |
OMIM:612260 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased proportion of CD8-positive T cells, Decreased circulating total IgM, Pulmonary fibrosis... |
OMIM:611926 |
Thrombocytopenia-Absent Radius Syndrome |
|
Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ... |
ORPHA:3320 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Genu varum, Joint laxity, Sh... |
OMIM:300106 |
Brachydactyly, Type E1 |
|
Short metacarpal, Short metatarsal, Short clavicles, Type E brachydactyly, Brachydactyly |
OMIM:113300 |
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Bilateral talipes ... |
OMIM:119800 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Acute pancreatitis, Abscess, Eczema, Perianal abscess, Splenomegaly, Lymphadeni... |
OMIM:618935 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Osteopenia, Short humerus, Increased bone mineral density, Bowing of the long bones, Recurrent fr... |
OMIM:239000 |
Hemophilia A |
|
Osteoarthritis, Joint hemorrhage |
OMIM:306700 |
Immunodeficiency 58 |
|
Colitis, Chronic otitis media, Recurrent cutaneous abscess formation, Chronic pulmonary obstructi... |
OMIM:618131 |
Multiple Osteochondromas |
|
Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor... |
ORPHA:321 |
Calvarial Doughnut Lesions With Bone Fragility |
|
Osteopenia, Osteoporosis, Recurrent fractures, Femoral bowing |
OMIM:126550 |
Rhyns Syndrome |
|
Osteopenia, Radial bowing, Osteoporosis, Short long bone, Short femoral neck, Brachydactyly |
OMIM:602152 |
Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Bowing of the long bones, Broad long bones, Micromelia, Micrognathia, Equinovarus deformity, Meta... |
OMIM:224400 |
Agammaglobulinemia 9, Autosomal Recessive |
|
Seborrheic dermatitis, Agammaglobulinemia, Recurrent bacterial infections, Absent circulating B c... |
OMIM:619693 |
Bardet-Biedl Syndrome 14 |
|
Polydactyly, Obesity |
OMIM:615991 |
Shox-Related Short Stature |
|
Micrognathia, Tibial bowing, Short foot, Genu valgum, Forearm undergrowth, Lower limb undergrowth... |
ORPHA:314795 |
Immunodeficiency 82 With Systemic Inflammation |
|
Osteomyelitis, Skin rash, Osteomalacia, Pneumonia, Recurrent skin infections, Gastritis, Bronchie... |
OMIM:619381 |
Immunodeficiency 81 |
|
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... |
OMIM:619374 |
Czech Dysplasia |
|
Narrow femoral neck, Short metacarpal, Flat capital femoral epiphysis, Short toe, Flexion contrac... |
OMIM:609162 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Anterior uveitis, Complete or near-complete absence of specific antibody response to unconjugated... |
OMIM:301081 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Joint laxity, Hypoplasia of the ulna, Pes planus, Tapered finger, Hip dislocation, Knee dislocati... |
OMIM:618395 |
Immunodeficiency 33 |
|
Decreased circulating total IgM, Recurrent bacterial infections, Increased circulating IgA level |
OMIM:300636 |
Avian Influenza |
|
Respiratory distress, Elevated circulating creatine kinase concentration, Elevated circulating C-... |
ORPHA:454836 |
Igg4-Related Ophthalmic Disease |
|
Sinusitis, Eosinophilia, Increased circulating IgG4 level, Cholangitis, Keratitis, Orchitis, Abno... |
ORPHA:449563 |
Bruck Syndrome 2 |
|
Osteopenia, Flexion contracture, Elbow flexion contracture, Knee flexion contracture, Increased s... |
OMIM:609220 |
Dysspondyloenchondromatosis |
|
Joint dislocation, Enlarged joints, Osteoarthritis, Generalized joint laxity, Genu valgum |
ORPHA:85198 |
Roifman-Chitayat Syndrome |
|
Osteopenia, Short metacarpal, Short metatarsal, Cone-shaped epiphysis, Arthritis |
OMIM:613328 |
Polyarteritis Nodosa |
|
Pericarditis, Elevated circulating C-reactive protein concentration, Raynaud phenomenon, Cardiomy... |
ORPHA:767 |
Spondyloarthropathy, Susceptibility To, 1 |
|
Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Sacroiliac arthritis, Infl... |
OMIM:106300 |
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Short long bone, Polydactyly, Brachydactyly |
OMIM:613819 |
Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Antinuclear antibody positivity, Arthritis, Crescentic glomerulonephritis |
OMIM:616414 |
Jackson-Weiss Syndrome |
|
Broad hallux phalanx, Toe syndactyly, Short metatarsal, 2-3 toe syndactyly, Symphalangism affecti... |
ORPHA:1540 |
Bardet-Biedl Syndrome 13 |
|
Polydactyly, Obesity |
OMIM:615990 |
Acromesomelic Dysplasia 1 |
|
Joint laxity, Short metacarpal, Radial bowing, Broad metatarsal, Short toe, Limited elbow extensi... |
OMIM:602875 |
Satoyoshi Syndrome |
|
Pes planus, Short metacarpal, Short metatarsal, Osteolytic defects of the phalanges of the hand, ... |
OMIM:600705 |
Hypophosphatemic Bone Disease |
|
Rickets, Osteomalacia, Bowing of the legs |
OMIM:146350 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Vertebral fusion, Short long bone, Talipes equinovarus |
OMIM:618845 |
Myofibrillar Myopathy 11 |
|
Centrally nucleated skeletal muscle fibers, Overweight, Z-band streaming, Calf muscle hypertrophy... |
OMIM:619178 |
Orofaciodigital Syndrome X |
|
Preaxial hand polydactyly, Coalescence of tarsal bones, Hand oligodactyly, Fibular aplasia |
OMIM:165590 |
Pyoderma Gangrenosum |
|
Myositis, Pustule, Inflammation of the large intestine, Increased circulating antibody level, Rhe... |
ORPHA:48104 |
Immunodeficiency 108 With Autoinflammation |
|
Epistaxis, Hyposegmentation of neutrophil nuclei, Recurrent aphthous stomatitis, Impaired neutrop... |
OMIM:260570 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Osteopetrosis |
ORPHA:3240 |
Prolidase Deficiency |
|
Chronic lung disease, Eczema, Splenomegaly, Asthma, Recurrent pneumonia, Crusting erythematous de... |
OMIM:170100 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Short tibia, Short femur, Talipes equinovarus |
OMIM:620306 |
Achalasia, Familial Esophageal |
|
Keratoconjunctivitis sicca, Xerostomia, Rheumatoid arthritis |
OMIM:200400 |
Sneddon Syndrome |
|
Bicuspid aortic valve, Cerebral hemorrhage, Decreased circulating total IgM, Hypertension, Ischem... |
OMIM:182410 |
Immunodeficiency 56 |
|
Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Cholangitis,... |
OMIM:615207 |
Osteogenesis Imperfecta, Type Iii |
|
Recurrent fractures, Severe generalized osteoporosis, Protrusio acetabuli, Multiple prenatal frac... |
OMIM:259420 |
Pseudoleprechaunism Syndrome, Patterson Type |
|
Joint swelling, Delayed pubic bone ossification, Flat acetabular roof, Genu valgum |
ORPHA:2976 |
Polymyositis |
|
Gastrointestinal hemorrhage, Pericarditis, Abnormal atrioventricular conduction, Myocardial infar... |
ORPHA:732 |
Scedosporiosis |
|
Unusual skin infection, Pericarditis, Sinusitis, Arthralgia/arthritis, Pneumonia, Osteomyelitis, ... |
ORPHA:449280 |
Osteogenesis Imperfecta, Type Viii |
|
Osteopenia, Joint laxity, Short metacarpal, Radial bowing, Recurrent fractures, Femoral retrovers... |
OMIM:610915 |
Boutonneuse Fever |
|
Maculopapular exanthema, Skin rash, Increased circulating IgG level, Increased circulating IgM le... |
ORPHA:83313 |
Dysostosis, Stanescu Type |
|
Bowing of the long bones, Increased bone mineral density, Micromelia, Abnormal epiphysis morpholo... |
ORPHA:1798 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6 |
|
Pancytopenia, Decreased circulating antibody level, Restrictive ventilatory defect, Bone marrow h... |
OMIM:619767 |
Eosinophil Peroxidase Deficiency |
|
Eosinophil nuclear hypersegmentation |
OMIM:261500 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Radial bowing, Rhizomelia, Dumbbell-shaped long bone, Hypoplastic ischia, Hypoplastic ilia, Micro... |
OMIM:151210 |
Lesch-Nyhan Syndrome |
|
Gout |
ORPHA:510 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Joint laxity, Micromelia, Delayed epiphyseal ossification, Flared metaphysis, Coxa vara, Limb und... |
OMIM:602557 |
Ciliary Dyskinesia, Primary, 9 |
|
Neonatal respiratory distress, Pneumonia, Decreased nasal nitric oxide, Bronchiectasis, Chronic r... |
OMIM:612444 |
Hemophilia B |
|
Osteoarthritis, Joint hemorrhage |
OMIM:306900 |
Idiopathic Achalasia |
|
Bronchitis, Wheezing, Cough, Decreased prealbumin level, Recurrent aspiration pneumonia |
ORPHA:930 |
Dyggve-Melchior-Clausen Disease |
|
Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Femoral bowing, Tibial bowing, Narrow... |
OMIM:223800 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Aplasia/Hypoplasia of the fibula, Micrognathia, Short ... |
ORPHA:2256 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Osteopenia, Hip contracture, Bowing of the long bones, Micrognathia, Metaphyseal chondrodysplasia... |
OMIM:156400 |
Acrofacial Dysostosis, RodrÃguez Type |
|
Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Abnormal pelvic gird... |
ORPHA:1788 |
Mucoepithelial Dysplasia, Hereditary |
|
Pneumonia, Eosinophilia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Keratoconjunctiv... |
OMIM:158310 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Erythema nodosum, Arthritis, Skin rash, Recurrent aphthous stomatitis |
OMIM:611762 |
Acquired Partial Lipodystrophy |
|
Decreased circulating complement C3 concentration, Lymphocytosis |
ORPHA:79087 |
Immunodeficiency 40 |
|
Respiratory tract infection, Recurrent pneumonia, Eosinophilic granuloma, T lymphocytopenia, Inte... |
OMIM:616433 |
Pelizaeus-Merzbacher Disease |
|
Reduction of oligodendroglia, Cerebral dysmyelination, Sudanophilic leukodystrophy, Optic atrophy... |
OMIM:312080 |
Blomstrand Lethal Chondrodysplasia |
|
Short metacarpal, Increased bone mineral density, Bowing of the long bones, Rhizomelia, Aplastic ... |
ORPHA:50945 |
Secondary Non-Traumatic Avascular Necrosis |
|
Limitation of joint mobility, Autoimmunity, Rheumatoid arthritis, Systemic lupus erythematosus |
ORPHA:399180 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Epiphyseal dysplasia, Large tarsal bones, Micrognathia, Premature osteoarthritis, Flexion contrac... |
OMIM:215150 |
Tricho-Dento-Osseous Syndrome |
|
Finger clinodactyly, Increased bone mineral density |
ORPHA:3352 |
Triglyceride Storage Disease, Type Ii |
|
Obesity |
OMIM:190430 |
Body Mass Index Quantitative Trait Locus 20 |
|
Increased bone mineral density |
OMIM:618406 |
Blau Syndrome |
|
Pericarditis, Skin rash, Camptodactyly of finger, Keratitis, Retrobulbar optic neuritis, Erythema... |
ORPHA:90340 |
Achondroplasia |
|
Rhizomelia, Bowing of the legs, Hip joint hypermobility, Short proximal phalanx of finger, Wide a... |
ORPHA:15 |
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Short metacarpal, Single interphalangeal crease of fifth finger, Hypoplastic iliac wing, Delayed ... |
OMIM:611717 |
Osteogenesis Imperfecta, Type Xviii |
|
Joint laxity, Thin bony cortex, Bowing of the long bones, Recurrent fractures, Micrognathia, Femo... |
OMIM:617952 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Psoriasiform dermatitis, Acne, Osteomyelitis, Edema, Skin rash, Abnormal sacroiliac joint morphol... |
ORPHA:324964 |
Attrv122I Amyloidosis |
|
Abnormal EKG, Increased circulating NT-proBNP concentration, Angina pectoris, Abnormal atrioventr... |
ORPHA:85451 |
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Osteoarthritis, Joint stiffness |
ORPHA:1345 |
Congenital Gerbode Defect |
|
Elevated right atrial pressure, Tricuspid regurgitation, Ventricular septal defect, Left-to-right... |
ORPHA:99095 |
Bardet-Biedl Syndrome 16 |
|
Recurrent respiratory infections, Obesity, Recurrent otitis media, Polydactyly, Bronchiolitis |
OMIM:615993 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
Bloom Syndrome |
|
Bronchitis, Uveitis, Otitis media, Decreased circulating IgG level, Decreased proportion of CD4-p... |
ORPHA:125 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Short metacarpal, Short metatarsal, Advanced ossification of carpal bones, Cone-shaped epiphysis,... |
OMIM:614613 |
Sapho Syndrome |
|
Psoriasiform dermatitis, Acne, Recurrent fractures, Edema, Osteomyelitis, Pustule, Abnormal sacro... |
ORPHA:793 |
Otospondylomegaepiphyseal Dysplasia |
|
Epiphyseal dysplasia, Abnormally ossified vertebrae, Short metacarpal, Sandal gap, Abnormal pelvi... |
ORPHA:1427 |
Achondrogenesis, Type Ii |
|
Microretrognathia, Absent vertebral body mineralization, Broad long bones, Short tubular bones of... |
OMIM:200610 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypertension, Obesity, Myocardial infarction |
OMIM:608320 |
Slc35A1-Cdg |
|
Respiratory distress, Pneumonia, Giant platelets, Hypoxemia, Neutropenia, Abnormal platelet granu... |
ORPHA:238459 |
Indolent Systemic Mastocytosis |
|
Maculopapular exanthema, Skin rash, Splenomegaly, Increased proportion of CD25+ mast cells, Masto... |
ORPHA:98848 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Myocarditis, Arrhythmia, Atrioventricular block |
ORPHA:93317 |
Osteogenesis Imperfecta, Type Ii |
|
Crumpled long bones, Broad long bones, Recurrent fractures, Multiple prenatal fractures, Absent o... |
OMIM:166210 |
Dyggve-Melchior-Clausen Disease |
|
Glenoid fossa hypoplasia, Coxa vara, Iliac crest serration, Rhizomelia, Hypoplasia of the odontoi... |
ORPHA:239 |
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome |
|
Camptodactyly of finger, Bone cyst, Knee osteoarthritis, Osteoporosis, Coxa vara, Short femoral n... |
ORPHA:2848 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 |
|
Nephritis, Gout |
OMIM:162000 |
Hypochondroplasia |
|
Joint hyperflexibility, Osteoarthritis, Abnormality of the elbow, Genu varum |
ORPHA:429 |
Desbuquois Dysplasia 2 |
|
Joint laxity, Epiphyseal dysplasia, Short metacarpal, Pes planus, Monkey wrench femoral neck, Cox... |
OMIM:615777 |
Kniest Dysplasia |
|
Enlarged epiphyses, Abnormality of the epiphysis of the femoral head, Dumbbell-shaped long bone, ... |
ORPHA:485 |
Incessant Infant Ventricular Tachycardia |
|
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Left ... |
ORPHA:45453 |
Tempi Syndrome |
|
Transudative pleural effusion, Hypoxemia, Increased circulating IgG level, Increased hematocrit, ... |
ORPHA:284227 |
Pycnodysostosis |
|
Increased bone mineral density, Aplastic clavicle, Micrognathia, Absent frontal sinuses, Osteolyt... |
OMIM:265800 |
Erdheim-Chester Disease |
|
Increased bone mineral density, Osteomyelitis, Skin rash, Osteolysis, Joint swelling, Pleural eff... |
ORPHA:35687 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Short metatarsal, Radioulnar s... |
OMIM:605282 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Decreased circulating total IgM, Recurrent bronchopulmonary infections, Neutropenia |
OMIM:610798 |
Idiopathic Hypereosinophilic Syndrome |
|
Inflammatory abnormality of the skin, Ankle swelling, Cholangitis, Eczema, Angioedema, Chronic he... |
ORPHA:3260 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Short long bone, Postaxial polydactyly, Brachydactyly |
OMIM:615633 |
X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Autoimmunity, Recurre... |
ORPHA:47 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Short phalanx of fing... |
OMIM:250220 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Short femur, Joint hypermobility, Genu valgum |
OMIM:617798 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Iliac crest serration, Micromelia, Wide distal femoral metaphysis, Delayed epiphyseal ossificatio... |
OMIM:613320 |
Hyper-Igd Syndrome |
|
Neutrophilia, Skin rash, Increased circulating IgA level, Splenomegaly, Leukocytosis, Lymphadenit... |
OMIM:260920 |
Idiopathic Bronchiectasis |
|
Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Bronchiect... |
ORPHA:60033 |
Xylt1-Cdg |
|
Joint laxity, Pes planus, Coxa valga, Flared metaphysis, Short long bone, Short femoral neck, Sho... |
ORPHA:370930 |
Dent Disease |
|
Enlarged epiphyses, Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Osteomalac... |
ORPHA:1652 |
Dentin Dysplasia With Sclerotic Bones |
|
Cortical sclerosis |
OMIM:125440 |
Majeed Syndrome |
|
Increased bone mineral density, Osteomyelitis, Flexion contracture, Synovitis, Increased suscepti... |
ORPHA:77297 |
Autosomal Recessive Spastic Paraplegia Type 71 |
|
Abnormal myelination |
ORPHA:401840 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Dumbbell-shaped long bone, Snail-like ilia, Advanced ossification of carpal... |
OMIM:269250 |
Occipital Horn Syndrome |
|
Osteopenia, Coxa vara, Humerus varus, Short palm, Large iliac wing, Osteomalacia, Aplastic clavic... |
ORPHA:198 |
Hypocomplementemic Urticarial Vasculitis |
|
Joint dislocation, Episcleritis, Skin rash, Autoimmunity, Pericardial effusion, Angioedema, Uveit... |
ORPHA:36412 |
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Osteopenia, Short fourth metatarsal, Short metacarpal, Overlapping toe, Craniosynostosis, Femoral... |
OMIM:616723 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant |
|
Premature osteoarthritis |
OMIM:184840 |
Familial Cold Urticaria |
|
Arthritis, Conjunctivitis, Dehydration |
ORPHA:47045 |
Ciliary Dyskinesia, Primary, 25 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Productive c... |
OMIM:615482 |
Multifocal Atrial Tachycardia |
|
Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fibrillation, Paroxysmal atrial ta... |
ORPHA:3282 |
Erythema Elevatum Diutinum |
|
Skin rash, Increased circulating antibody level |
ORPHA:90000 |
Familial Cold Autoinflammatory Syndrome 1 |
|
Arthritis, Conjunctivitis, Skin rash, Uveitis |
OMIM:120100 |
Leptin Deficiency Or Dysfunction |
|
Recurrent ear infections, Recurrent upper respiratory tract infections, Recurrent pneumonia, Obes... |
OMIM:614962 |
Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, 11 pairs of ribs, Bowing of the long bones, Recurrent fractur... |
ORPHA:140 |
Acrodysostosis |
|
Hypoplasia of the ulna, Short metacarpal, Abnormal morphology of the radius, Abnormal morphology ... |
ORPHA:950 |
Atrial Standstill |
|
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... |
ORPHA:1344 |
Immunoglobulin A Deficiency 1 |
|
Recurrent respiratory infections, Recurrent infections, Recurrent infection of the gastrointestin... |
OMIM:137100 |
Florid Cemento-Osseous Dysplasia |
|
Mandibular osteomyelitis, Abnormal trabecular bone morphology, Multiple bony cystic lesions, Abno... |
ORPHA:83451 |
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia |
|
Osteoarthritis |
ORPHA:166100 |
Microscopic Polyangiitis |
|
Gastrointestinal hemorrhage, Episcleritis, Pericarditis, Sinusitis, Increased inflammatory respon... |
ORPHA:727 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Bowin... |
ORPHA:85167 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Recurrent viral infections, Recurrent aspiration pneumonia, Neonatal respiratory distress, Psoria... |
ORPHA:221139 |
Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Pneumonia, Reduced forced expiratory volume in one second, Respiratory tract infection, Dyspnea, ... |
ORPHA:1303 |
Aicardi-Goutieres Syndrome 9 |
|
Hemolytic anemia, Pericarditis, Acute pancreatitis, Recurrent urinary tract infections, Chilblain... |
OMIM:619487 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Short metatarsal, Cone-shaped... |
OMIM:617102 |
Ritscher-Schinzel Syndrome 3 |
|
Hypoplasia of the ulna, Micrognathia, Wide anterior fontanel, Ulnar bowing, Shortening of all dis... |
OMIM:619135 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Gout, Recurrent infections |
OMIM:617056 |
Microlissencephaly |
|
Pneumonia |
ORPHA:1083 |
Autoimmune Hepatitis |
|
Viral hepatitis, Liver kidney microsome type 1 antibody positivity, Glomerulonephritis, Antinucle... |
ORPHA:2137 |
Alpha-1-Antitrypsin Deficiency |
|
Chronic bronchitis, Splenomegaly, Dyspnea, Chronic pulmonary obstruction, Wheezing, Bronchiectasi... |
OMIM:613490 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Metaphyseal dysplasia, Radial bowing, Broad hallux, Bowed humerus, Rhizomelia, Flared metaphysis,... |
OMIM:618019 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Brain abscess, Recurrent respiratory infections, Lung abscess, Pneumonia, Dyspnea, Intraalveolar ... |
OMIM:610910 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Pericarditis, Myositis, Fasciitis, Skin rash, Elevated circulating C-reactive protein concentrati... |
ORPHA:32960 |
Microphthalmia With Limb Anomalies |
|
Toe syndactyly, Sandal gap, Capitate-hamate fusion, 2-3 toe cutaneous syndactyly, 4-5 metacarpal ... |
OMIM:206920 |
Rothmund-Thomson Syndrome Type 2 |
|
Osteopenia, Abnormal trabecular bone morphology, Short metacarpal, Plantar hyperkeratosis, Aplasi... |
ORPHA:221016 |
Otopalatodigital Syndrome Type 2 |
|
Increased bone mineral density, Bowing of the long bones, Camptodactyly of finger, Tarsal synosto... |
ORPHA:90652 |
Camurati-Engelmann Disease |
|
Increased bone mineral density, Diaphyseal sclerosis, Genu valgum, Cortical thickening of long bo... |
OMIM:131300 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Increased circulating IgG level, Leukocytosis |
ORPHA:206594 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Preaxial hand polydactyly, Postaxial hand polydactyly, Disproportionate shortening of the tibia, ... |
OMIM:263520 |
Autosomal Dominant Spastic Paraplegia Type 36 |
|
Arthritis |
ORPHA:320365 |
Immune Deficiency, Familial Variable |
|
Decreased circulating IgG level, Recurrent infections, Decreased circulating IgA level |
OMIM:146830 |
Catel-Manzke Syndrome |
|
Joint laxity, Short humerus, Short metacarpal, Short femur, Micrognathia, Short toe, Genu valgum,... |
OMIM:616145 |
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Recurrent respiratory infections, Multiple joint contractures, Centrally nucleated skeletal muscl... |
ORPHA:486815 |
Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Pancytopenia, Maculopapular exanthema, Portal hypertension, Hyperspl... |
ORPHA:98850 |
Coronary Arterial Fistula |
|
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Bicuspid aortic valve, T... |
ORPHA:2041 |
Hand-Foot-Genital Syndrome |
|
Shortening of all middle phalanges of the fingers, Proximal placement of thumb, Short hallux, Hal... |
OMIM:140000 |
Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Aspiration pneumonia |
ORPHA:141152 |
Myeloma, Multiple |
|
Paraproteinemia |
OMIM:254500 |
Fusariosis |
|
Fasciitis, Sinusitis, Myositis, Abnormality of the spleen, Neutropenia, Brain abscess, Maculopapu... |
ORPHA:228119 |
Atelosteogenesis, Type Iii |
|
Radial bowing, Sandal gap, Rhizomelia, Micrognathia, Tombstone-shaped proximal phalanges, Widened... |
OMIM:108721 |
Postinfectious Vasculitis |
|
Elevated circulating C-reactive protein concentration, Severe varicella zoster infection, Recurre... |
ORPHA:48435 |
Orofaciodigital Syndrome Type 2 |
|
Finger syndactyly, Broad hallux, Micrognathia, Short tibia, Adactyly, Broad first metatarsal, Pos... |
ORPHA:2751 |
Mucolipidosis Iii Alpha/Beta |
|
Soft tissue swelling of interphalangeal joints, Craniosynostosis, Irregular carpal bones, Split h... |
OMIM:252600 |
Hb Bart'S Hydrops Fetalis |
|
Pericarditis, Abnormal hemoglobin, Splenomegaly, Congestive heart failure, Anemia |
ORPHA:163596 |
Rothmund-Thomson Syndrome Type 1 |
|
Osteopenia, Abnormal trabecular bone morphology, Short metacarpal, Plantar hyperkeratosis, Metaph... |
ORPHA:221008 |
Neuropathy, Hereditary Sensory And Autonomic, Type V |
|
Arthropathy, Osteomyelitis, Recurrent fractures, Osteoarthritis, Painless fractures due to injury... |
OMIM:608654 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Micrognathia, Flexion contracture, Tibial bowing, Hypoplastic iliac wing, Short tibia, Small prox... |
ORPHA:96334 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Impaired neutrophil bactericidal activity, Spontaneous hemolytic crises, Splenomegaly, Cholecysti... |
OMIM:613470 |
Zika Virus Disease |
|
Maculopapular exanthema, Ankle swelling, Edema, Skin rash, Wrist swelling, Arthritis, Conjunctivi... |
ORPHA:448237 |
Pyknoachondrogenesis |
|
Craniofacial hyperostosis, Abnormal intramembranous ossification, Micromelia, Short iliac bones, ... |
ORPHA:3003 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Ulnar deviation of the hand, Micrognathia, Wide anterior fontanel, Metaphyseal widening, Flexion ... |
OMIM:263210 |
Pycnodysostosis |
|
Joint laxity, Increased bone mineral density, Rhizomelia, Micrognathia, Lower limb asymmetry, Gen... |
ORPHA:763 |
Psoriasis-Related Juvenile Idiopathic Arthritis |
|
Abnormality of the knee, Anterior uveitis, Psoriasiform dermatitis, Generalized morning stiffness... |
ORPHA:85436 |
Yao Syndrome |
|
Inflammatory abnormality of the skin, Pericarditis, Skin rash, Xerostomia, Arthritis, Keratoconju... |
OMIM:617321 |
Juvenile Dermatomyositis |
|
Gastrointestinal hemorrhage, Bundle branch block, Pericarditis, Myositis, Angina pectoris, Telang... |
ORPHA:93672 |
Multiple Epiphyseal Dysplasia Type 5 |
|
Osteoarthritis of the small joints of the hand, Abnormal acetabulum morphology, Decreased hip abd... |
ORPHA:93311 |
Oculocerebrorenal Syndrome Of Lowe |
|
Recurrent respiratory infections, Osteomalacia, Recurrent fractures, Joint stiffness, Hip disloca... |
ORPHA:534 |
Saul-Wilson Syndrome |
|
Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Coxa valga, Micrognathi... |
OMIM:618150 |
Adult-Onset Nemaline Myopathy |
|
Respiratory insufficiency due to muscle weakness, Reduced vital capacity, Paraproteinemia, Mildly... |
ORPHA:171442 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Micromelia, Micrognathia, Delayed epiphyseal ossification, Flexion contracture, Preaxial polydact... |
OMIM:210710 |
Monosomy 22 |
|
Joint swelling, Seborrheic dermatitis, Contractures of the large joints |
ORPHA:96123 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Vertebral fusion, Short lower limbs, Lower limb asymmetry, Hypoplastic iliac wing, Avascular necr... |
ORPHA:93315 |
Graft Versus Host Disease |
|
Dupuytren contracture, Fasciitis, Myositis, Acute hepatitis, Limited elbow movement, Maculopapula... |
ORPHA:39812 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Ivory epiphyses, Brachydactyly, Distal symphalangism, Radial bowing, Pseudoepiphyses of the metac... |
OMIM:210720 |
African Trypanosomiasis |
|
Abnormal EKG, Pericarditis, Papilledema, Keratitis, Myocarditis, Congestive heart failure, Spleno... |
ORPHA:3385 |
Mastocytosis, Cutaneous |
|
Cutaneous mastocytosis, Telangiectasia macularis eruptiva perstans |
OMIM:154800 |
Summitt Syndrome |
|
Syndactyly, Obesity |
OMIM:272350 |
Rothmund-Thomson Syndrome |
|
Osteopenia, Hypoplasia of the ulna, Abnormal trabecular bone morphology, Plantar hyperkeratosis, ... |
ORPHA:2909 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Recurrent bacterial skin infections, Spontaneous, recu... |
OMIM:214500 |
Cleidocranial Dysplasia 1 |
|
Micrognathia, Short middle phalanx of the 2nd finger, Absent frontal sinuses, Coxa vara, Hypoplas... |
OMIM:119600 |
Acromelic Frontonasal Dysostosis |
|
Syndactyly, Preaxial polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Polydactyly, Ta... |
OMIM:603671 |
Caffey Disease |
|
Increased circulating antibody level, Respiratory insufficiency |
ORPHA:1310 |
Morbid Obesity And Spermatogenic Failure |
|
Myocardial infarction, Congestive heart failure, Obesity, Oligozoospermia, Azoospermia, Hypertension |
OMIM:615703 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10 |
|
Osteoarthritis, Bronchiectasis, Joint hypermobility |
OMIM:620080 |
Secondary Intestinal Lymphangiectasia |
|
Lymphopenia, Decreased circulating IgG1 level, Right ventricular failure, Reduced circulating tra... |
ORPHA:90363 |
Fibrochondrogenesis 1 |
|
Hypoplastic scapulae, Broad long bones, Rhizomelia, Dumbbell-shaped long bone, Hypoplastic ischia... |
OMIM:228520 |
Pseudohypoparathyroidism, Type Ia |
|
Short metacarpal, Short toe, Osteoporosis, Short metatarsal, Subcutaneous ossification, Short fin... |
OMIM:103580 |
Pelvis-Shoulder Dysplasia |
|
Syndactyly, Aplasia/Hypoplasia of the ribs, Aplasia/Hypoplasia of the clavicles, Camptodactyly of... |
ORPHA:2839 |
Gamma-A-Globulin, Defect In Assembly Of |
|
Recurrent respiratory infections, Decreased circulating IgA level |
OMIM:137050 |
Greenberg Dysplasia |
|
Micromelia, Micrognathia, Multiple prenatal fractures, Patchy variation in bone mineral density, ... |
OMIM:215140 |
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome |
|
Aspiration pneumonia |
OMIM:609528 |
Anti-Glomerular Basement Membrane Disease |
|
Arthritis, Autoimmunity |
ORPHA:375 |
Vexas Syndrome |
|
Inflammatory abnormality of the skin, Neutrophilic infiltration of the skin, Chondritis of pinna,... |
OMIM:301054 |
Oncogenic Osteomalacia |
|
Abnormal pelvis bone morphology, Abnormality of the tarsal bones, Fibrous dysplasia of the bones,... |
ORPHA:352540 |
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome |
|
Tapered finger, Cryptorchidism, Recurrent upper respiratory tract infections, Increased body weig... |
ORPHA:589905 |
Late-Onset Isolated Acth Deficiency |
|
Normocytic anemia, Macrocytic anemia, Eosinophilia, Hepatitis, Sepsis, Hashimoto thyroiditis |
ORPHA:199299 |
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis |
|
Cutaneous mastocytosis |
ORPHA:280794 |
Trichothiodystrophy 3, Photosensitive |
|
Recurrent infections, Lymphopenia, Neutropenia, Increased circulating IgA level |
OMIM:616395 |
Boomerang Dysplasia |
|
Absent radius, Hypoplastic iliac body, Fibular aplasia |
OMIM:112310 |
Tropical Endomyocardial Fibrosis |
|
Increased circulating interleukin 6 concentration, Prolonged QRS complex, Restrictive cardiomyopa... |
ORPHA:75565 |
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Brachydactyly, Bifid distal phalanx of the thumb, Overweight, Triangular shaped distal phalanx of... |
ORPHA:370010 |
Subcorneal Pustular Dermatosis |
|
Pustule, Autoimmunity, Rheumatoid arthritis, Systemic lupus erythematosus |
ORPHA:48377 |
Marburg Hemorrhagic Fever |
|
Elevated circulating creatine kinase concentration, Uveitis, Leukopenia, Hypoalbuminemia, Conjunc... |
ORPHA:99826 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Leukopenia, Colitis, Bone marrow hypocellularity, Decreased circulating antibody level |
OMIM:615190 |
Riddle Syndrome |
|
Pneumonia, Bronchitis, Recurrent viral infections, Elevated circulating alpha-fetoprotein concent... |
ORPHA:420741 |
Hemochromatosis, Type 2A |
|
Arthritis |
OMIM:602390 |
Geleophysic Dysplasia 1 |
|
Osteopenia, Camptodactyly of finger, Joint stiffness, Coxa valga, Hypoplasia of the capital femor... |
OMIM:231050 |
Acromesomelic Dysplasia 4 |
|
Broad toe, Short metacarpal, Radial bowing, Sandal gap, Prominent deltoid tuberosities, Rhizomeli... |
OMIM:619636 |
Pediatric Systemic Lupus Erythematosus |
|
Myositis, Antiphospholipid antibody positivity, Skin rash, Edema, Antineutrophil antibody positiv... |
ORPHA:93552 |
Mucopolysaccharidosis-Plus Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Thrombocytopenia, Splenomegaly, Recurrent... |
OMIM:617303 |
Amoebiasis Due To Entamoeba Histolytica |
|
Liver abscess, Lung abscess, Abnormal pericardium morphology, Congestive heart failure, Leukocyto... |
ORPHA:67 |
Periodic Fever, Familial, Autosomal Dominant |
|
Myositis, Maculopapular exanthema, Skin rash, Periorbital edema, Oligoarthritis, Polyarticular ar... |
OMIM:142680 |
Hemophagocytic Syndrome Associated With An Infection |
|
Pancytopenia, Thrombocytopenia, Splenomegaly, Increased circulating ferritin concentration, Abnor... |
ORPHA:158048 |
Severe Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Arthritis, Recurrent respiratory infections, Gout |
ORPHA:411543 |
Thanatophoric Dysplasia, Type I |
|
Bowing of the long bones, Small abnormally formed scapulae, Hypoplastic ilia, Flared metaphysis, ... |
OMIM:187600 |
Ciliary Dyskinesia, Primary, 23 |
|
Neonatal respiratory distress, Productive cough, Recurrent pneumonia, Bronchiectasis, Respiratory... |
OMIM:615451 |
Wild Type Abeta2M Amyloidosis |
|
Arthropathy, Arthritis |
ORPHA:85446 |
Complete Atrioventricular Septal Defect |
|
Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ... |
ORPHA:1329 |
Idiopathic Neonatal Atrial Flutter |
|
Abnormal EKG, Abnormal atrioventricular conduction, Large for gestational age, Abnormal left vent... |
ORPHA:45452 |
Omodysplasia 2 |
|
Short humerus, Micrognathia, Fibular hypoplasia, Limited elbow flexion/extension, Hypoplastic dis... |
OMIM:164745 |
Ciliary Dyskinesia, Primary, 14 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Wheezing, Re... |
OMIM:613807 |
Melioidosis |
|
Foot osteomyelitis, Pneumonia, Osteoarthritis, Sepsis, Hepatitis, Acute infectious pneumonia, Sep... |
ORPHA:31202 |
C3 Glomerulopathy |
|
Membranoproliferative glomerulonephritis, Paraproteinemia, Recurrent infections, Decreased circul... |
ORPHA:329918 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Micrognathia, Delayed proximal femoral epiphyseal ossification, Flexion contracture, Metaphyseal ... |
OMIM:271640 |
Immunodeficiency, Common Variable, 10 |
|
Recurrent oral herpes, Psoriasiform dermatitis, Frequent Giardia lamblia infestation, Recurrent v... |
OMIM:615577 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec... |
OMIM:233710 |
Axial Osteomalacia |
|
Increased bone mineral density, Osteomalacia |
OMIM:109130 |
Ciliary Dyskinesia, Primary, 21 |
|
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ... |
OMIM:615294 |
Ciliary Dyskinesia, Primary, 33 |
|
Atelectasis, Recurrent pneumonia, Bronchiectasis, Chronic rhinitis, Cough, Recurrent otitis media... |
OMIM:616726 |
Malignant Atrophic Papulosis |
|
Gastrointestinal hemorrhage, Constrictive pericarditis |
OMIM:602248 |
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Osteopenia, Short metacarpal, Brachydactyly, Rhizomelia, Hypoplastic sacrum, Short metatarsal, Sm... |
OMIM:614813 |
Muscular Hypertonia, Lethal |
|
Respiratory distress, Pneumonia |
OMIM:254120 |
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome |
|
Metaphyseal chondrodysplasia, Tibial bowing, Femoral bowing, Aplasia/Hypoplasia of the mandible, ... |
ORPHA:85165 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas... |
ORPHA:3144 |
Temple Syndrome |
|
Small for gestational age, Overweight, Cryptorchidism, Flexion contracture, Small hand, Obesity, ... |
OMIM:616222 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infection... |
ORPHA:2643 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hemolytic anemia, Pneumonia, Recurrent viral infections, Splenomegaly, Recurrent mycobacterial in... |
ORPHA:169090 |
Granulomatosis With Polyangiitis |
|
Sinusitis, Elevated circulating C-reactive protein concentration, Granulomatosis, Otitis media, C... |
ORPHA:900 |
Ciliary Dyskinesia, Primary, 42 |
|
Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchiectasis, Respirat... |
OMIM:618695 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Pes planus, Short femur, Talipes, Micrognathia, Talipes equinovarus, Broad distal phalanx of fing... |
OMIM:300990 |
Lymphatic Filariasis |
|
Glomerulonephritis, Circulating immune complexes, Lymphadenitis, Abnormal lung morphology, Knee o... |
ORPHA:2035 |
Alpha-Mannosidosis |
|
Chronic otitis media, Arthritis, Synostosis of joints, Recurrent respiratory infections |
ORPHA:61 |
Primary Intestinal Lymphangiectasia |
|
Lymphopenia, Pericardial effusion, Hypomagnesemia, Cryptococcal meningitis, Decreased circulating... |
ORPHA:90362 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Broad long bones, Micromelia, Bowing of the legs, Hypoplastic ilia, Micrognathia, Flexion contrac... |
ORPHA:1865 |
Trichorhinophalangeal Syndrome Type 1 |
|
Short metacarpal, Camptodactyly of finger, Micrognathia, Avascular necrosis of the capital femora... |
ORPHA:77258 |
Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Aspiration pneumonia |
OMIM:619477 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Increased inflammatory response, Increased circulating interleukin 6 concentration, Skin rash, Ta... |
ORPHA:542323 |
Thrombocytopenia-Absent Radius Syndrome |
|
Eosinophilia, Seborrheic dermatitis, Leukocytosis, Hepatosplenomegaly, Anemia, Decreased circulat... |
OMIM:274000 |
Al Amyloidosis |
|
Gastrointestinal hemorrhage, Abnormal EKG, Increased circulating NT-proBNP concentration, Howell-... |
ORPHA:85443 |
Pde4D Haploinsufficiency Syndrome |
|
Joint laxity, Pes planus, Short metacarpal, Broad hallux, Micrognathia, Short toe, Short metatars... |
ORPHA:439822 |
Mevalonic Aciduria |
|
Normocytic hypoplastic anemia, Skin rash, Elevated circulating creatine kinase concentration, Ele... |
OMIM:610377 |
Ataxia-Telangiectasia |
|
Decreased circulating IgG level, Lymphopenia, Sinusitis, Recurrent bronchitis, Elevated circulati... |
OMIM:208900 |
Nathalie Syndrome |
|
Abnormal EKG |
OMIM:255990 |
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome |
|
Broad long bones, Abnormal metatarsal morphology, Rhizo-meso-acromelic limb shortening, Limited p... |
ORPHA:163654 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Truncal obesity, Obesity, Large for gestational age |
OMIM:240900 |
Wiskott-Aldrich Syndrome |
|
Abnormal eosinophil morphology, Sinusitis, Microcytic anemia, Sepsis, Inflammation of the large i... |
ORPHA:906 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Psoriasiform dermatitis, Severe B lymphocytopenia, Autoimmune thrombocytopenia, Recurrent viral i... |
ORPHA:293978 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Respiratory failure requiring assisted ventilation, Elevated circulating creatine kinase concentr... |
ORPHA:90117 |
Gaucher Disease Type 1 |
|
Pancytopenia, Hypersplenism, Splenomegaly, Osteoarthritis, Abnormal pulmonary interstitial morpho... |
ORPHA:77259 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Recurrent Klebsiella infec... |
OMIM:233690 |
Enthesitis-Related Juvenile Idiopathic Arthritis |
|
Anterior uveitis, Knee osteoarthritis, Oligoarthritis, Abnormality of the elbow, Enthesitis, Arth... |
ORPHA:85438 |
Trichorhinophalangeal Syndrome, Type I |
|
Osteopenia, Pes planus, Short metacarpal, Ivory epiphyses of the distal phalanges of the hand, Sw... |
OMIM:190350 |
Frontometaphyseal Dysplasia |
|
Limited elbow movement, Micrognathia, Metaphyseal widening, Short metatarsal, Spina bifida occult... |
ORPHA:1826 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Syndactyly, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, Short long bone, Acetabu... |
OMIM:615503 |
Rigid Spine Syndrome |
|
Abnormality on pulmonary function testing, Pneumonia, Respiratory insufficiency |
ORPHA:97244 |
Ciliary Dyskinesia, Primary, 27 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... |
OMIM:615504 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... |
OMIM:610193 |
Hemochromatosis, Type 3 |
|
Arthritis |
OMIM:604250 |
Kenny-Caffey Syndrome, Type 2 |
|
Increased bone mineral density, Thickened cortex of long bones, Abnormality of the medullary cavi... |
OMIM:127000 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
T lymphocytopenia, Infectious encephalitis, Autoimmune thrombocytopenia, Bronchiectasis, Hepatiti... |
ORPHA:391487 |
Classical Ehlers-Danlos Syndrome |
|
Osteopenia, Phalangeal dislocation, Osteoarthritis, Generalized joint laxity, Hip dislocation, Jo... |
ORPHA:287 |
Familial Mediterranean Fever |
|
Pericarditis, Neutrophilia, Elevated circulating C-reactive protein concentration, Orchitis, Meni... |
OMIM:249100 |
Pseudohypoparathyroidism Type 1C |
|
Increased bone mineral density, Short metacarpal, Short fifth metatarsal, Short metatarsal, Short... |
ORPHA:79444 |
Ataxia-Oculomotor Apraxia Type 4 |
|
Progressive distal muscular atrophy, Abnormal toe morphology, Obesity, Telangiectasia, Muscular d... |
ORPHA:459033 |
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes |
|
Cardiomyopathy, Abnormal EKG, Optic atrophy |
ORPHA:1177 |
Chédiak-Higashi Syndrome |
|
Abnormal leukocyte morphology, Recurrent bacterial skin infections, Pancytopenia, Skin rash, Epis... |
ORPHA:167 |
Vulvovaginal Gingival Syndrome |
|
Abnormality of tumor necrosis factor secretion |
ORPHA:83453 |
Stickler Syndrome Type 1 |
|
Joint hyperflexibility, Osteoarthritis |
ORPHA:90653 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 |
|
Arthropathy, Osteopenia, Seborrheic dermatitis, Limitation of joint mobility, Osteoporosis, Osteo... |
OMIM:259100 |
Gamma-Heavy Chain Disease |
|
Recurrent respiratory infections, Autoimmune hemolytic anemia, Skin rash, Autoimmunity, Autoimmun... |
ORPHA:100026 |
Psoriasis 14, Pustular |
|
Psoriasiform dermatitis, Cholangitis, Pustule, Oligoarthritis, Polyarticular arthritis |
OMIM:614204 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... |
ORPHA:300751 |
Dermatoosteolysis, Kirghizian Type |
|
Tarsal synostosis, Keratitis, Osteoarthritis, Osteolysis, Abnormality of the wrist |
ORPHA:1657 |
Warburg-Cinotti Syndrome |
|
Ankle flexion contracture, Elbow flexion contracture, Osteolytic defects of the phalanges of the ... |
OMIM:618175 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Osteopenia, Pes planus, Congenital hip dislocation, Tapered finger, Micrognathia, Hypoplasia of t... |
OMIM:616007 |
Leukocyte Adhesion Deficiency |
|
Sinusitis, Severe periodontitis, Recurrent staphylococcal infections, Sepsis, Conjunctivitis, Oti... |
ORPHA:2968 |
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Gout |
OMIM:618061 |
Ulnar Hemimelia |
|
Limited elbow movement, Osteoarthritis, Humeroradial synostosis, Elbow flexion contracture, Antec... |
ORPHA:93320 |
Combined Oxidative Phosphorylation Deficiency 53 |
|
Arthritis, Osteomyelitis, Septic arthritis |
OMIM:619423 |
Behçet Disease |
|
Myositis, Myocardial infarction, Pulmonary embolism, Infectious encephalitis, Meningitis, Acne, R... |
ORPHA:117 |
Mesomelia-Synostoses Syndrome |
|
Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat... |
OMIM:600383 |
Incontinentia Pigmenti |
|
Maculopapular exanthema, Eosinophilia, Keratitis, Leukocytosis, Uveitis |
OMIM:308300 |
Complement Factor B Deficiency |
|
Pneumonia, Decreased circulating complement factor B concentration, Peritonitis, Recurrent bacter... |
OMIM:615561 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Pericarditis, Pericardial effusion, Rod-cone dystrophy, Cardiomyopathy, Hypoalbuminemia, Hypochol... |
OMIM:212065 |
Generalized Pustular Psoriasis |
|
Pustule, Sepsis, Uveitis, Pedal edema, Cheilitis, Arthritis, Palmoplantar pustulosis, Erythroderma |
ORPHA:247353 |
Acute Monoblastic/Monocytic Leukemia |
|
Acute monocytic leukemia, Leukocytosis, Lymphocytosis, Hypochromic anemia, Anemia, Exertional dys... |
ORPHA:514 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Ventricular escape rhythm, Scapular winging, Proximal muscle weakness in upper limbs, Supraventri... |
ORPHA:98855 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Micromelia, Bowing of the legs, Micrognathia, Knee flexion contracture, Abnormal calcification of... |
OMIM:271665 |
Tracheobronchopathia Osteochondroplastica |
|
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... |
ORPHA:3348 |
Granulomatous Disease, Chronic, X-Linked |
|
Liver abscess, Lymphadenitis, Granulomatosis, Cough, Atelectasis, Recurrent E. coli infections, R... |
OMIM:306400 |
Primary Sjögren Syndrome |
|
Normocytic anemia, Myositis, Chronic active hepatitis, Bronchitis, Nonproductive cough, Leukopeni... |
ORPHA:289390 |
Sarcoidosis |
|
Increased T cell count, Abnormal lung morphology, Uveitis, Leukopenia, Tubulointerstitial nephrit... |
ORPHA:797 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Postaxial hand polydactyly, Cone-shaped epiphyses of the phalanges of the hand, Genu valgum, Shor... |
OMIM:615630 |
Ehlers-Danlos Syndrome, Classic Type, 1 |
|
Joint dislocation, Hyperextensibility of the finger joints, Hyperextensibility of the knee, Osteo... |
OMIM:130000 |
Shwachman-Diamond Syndrome |
|
Normocytic anemia, Transient neutropenia, Aplastic anemia, Sinusitis, Recurrent viral infections,... |
ORPHA:811 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Small for gestational age, Cryptorchidism, Pyloric stenosis, Small hand, Obesity, Cleft palate, S... |
ORPHA:96184 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Aplasia/hypoplasia of the extremities, Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasia of t... |
OMIM:276820 |
Summitt Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Obesity, Genu valgum, Short palm, Clinodactyly of the... |
ORPHA:3210 |
Trichinellosis |
|
Skin rash, Increased circulating IgE level, Conjunctivitis |
ORPHA:863 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Early ossification of capital femoral epiphyses, Cone-shaped epiphyses of... |
OMIM:208500 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr... |
OMIM:300291 |
Osteopetrosis With Renal Tubular Acidosis |
|
Osteopetrosis, Recurrent fractures, Micrognathia |
ORPHA:2785 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Sepsis, Leukopenia, Conjunctivitis, Hypoalbuminemia, Atrial septal defect, Decreased circulating ... |
ORPHA:505248 |
Acute Panmyelosis With Myelofibrosis |
|
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy... |
ORPHA:86843 |
Muckle-Wells Syndrome |
|
Episcleritis, Skin rash, Camptodactyly of finger, Uveitis, Arthritis, Conjunctivitis, Recurrent a... |
ORPHA:575 |
Giant Cell Arteritis |
|
Pericarditis, Epistaxis, Sudden cardiac death, Meningitis, Recurrent pharyngitis, Vasculitis, Opt... |
ORPHA:397 |
Bardet-Biedl Syndrome 22 |
|
Postaxial foot polydactyly, Polydactyly, Obesity, Large for gestational age |
OMIM:617119 |
Seckel Syndrome 1 |
|
Ivory epiphyses, 11 pairs of ribs, Pes planus, Sandal gap, Abnormal finger flexion crease, Talipe... |
OMIM:210600 |
Osteogenesis Imperfecta, Type I |
|
Osteopenia, Recurrent fractures, Increased susceptibility to fractures, Femoral bowing, Hip dyspl... |
OMIM:166200 |
Acromegaly |
|
Joint swelling, Osteoarthritis, Palpebral edema, Acne |
ORPHA:963 |
Pseudohypoparathyroidism Type 1A |
|
Increased bone mineral density, Short metacarpal, Short fifth metatarsal, Broad 1st metacarpal, S... |
ORPHA:79443 |
Ciliary Dyskinesia, Primary, 7 |
|
Recurrent pneumonia, Decreased nasal nitric oxide, Bronchiectasis, Restrictive ventilatory defect... |
OMIM:611884 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Syndactyly, Bowing of the long bones, Hypoplastic scapulae, Postaxial polydactyly, Micromelia, Fl... |
OMIM:614091 |
Hemochromatosis, Type 4 |
|
Osteoarthritis |
OMIM:606069 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant |
|
Arthritis, Cervical subluxation |
OMIM:184100 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Short humerus, Flexion contracture, Polydactyly, Short femur |
ORPHA:17 |
Ciliary Dyskinesia, Primary, 28 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... |
OMIM:615505 |
Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Pneumonia |
ORPHA:85179 |
Phocomelia, Schinzel Type |
|
Bowing of the long bones, Radial bowing, Talipes, Micromelia, Aplasia of the ulna, Micrognathia, ... |
ORPHA:2879 |
Spondyloenchondrodysplasia |
|
Autoimmune hemolytic anemia, Skin rash, Pneumonia, Autoimmunity, Autoimmune thrombocytopenia, Ant... |
ORPHA:1855 |
Emery-Dreifuss Muscular Dystrophy |
|
Atrioventricular block, Decreased cervical spine flexion due to contractures of posterior cervica... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Atrioventricular block, Decreased cervical spine flexion due to contractures of posterior cervica... |
ORPHA:98853 |
8Q24.3 Microdeletion Syndrome |
|
Joint laxity, Long toe, Microretrognathia, Congenital hip dislocation, Short femur, Rocker bottom... |
ORPHA:508488 |
Leptospirosis |
|
Papilledema, Pericarditis, Skin rash, First degree atrioventricular block, Conjunctival hyperemia... |
ORPHA:509 |
Osteoglophonic Dysplasia |
|
Osteopenia, Short metatarsal, Short palm, Short phalanx of finger, Pseudoarthrosis, Broad metacar... |
OMIM:166250 |
Beemer-Ertbruggen Syndrome |
|
Increased bone mineral density, Micrognathia |
ORPHA:1237 |
Acro-Renal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Micrognathia, Split hand, Hypopl... |
ORPHA:958 |
Autosomal Recessive Spastic Paraplegia Type 57 |
|
Optic atrophy, Abnormal myelination |
ORPHA:431329 |
Incontinentia Pigmenti |
|
Skin rash, Eosinophilia, Keratitis, Uveitis, Pulmonary arterial hypertension, Infectious encephal... |
ORPHA:464 |
Pseudohypoparathyroidism, Type Ic |
|
Short metacarpal, Osteoporosis, Short metatarsal, Brachydactyly |
OMIM:612462 |
Pseudohypoparathyroidism Type 1B |
|
Increased bone density with cystic changes, Increased bone mineral density, Diaphyseal sclerosis,... |
ORPHA:94089 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertension, Childhood-onset truncal obesity, Obesity |
ORPHA:71529 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Patchy osteosclerosis, Micrognathia, Small hand, Short foot, Short palm |
OMIM:241410 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Skin rash, Elevated circulating C-reactive protein concentration, Recurrent pneumonia, Decreased ... |
OMIM:617718 |
Mounier-Kühn Syndrome |
|
Recurrent respiratory infections, Recurrent bronchopulmonary infections, Pneumonia, Bronchitis |
ORPHA:3347 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Short humerus, Short femur, Tapered finger |
OMIM:618367 |
Somatomammotropinoma |
|
Joint swelling, Osteoarthritis, Palpebral edema |
ORPHA:314769 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Arthropathy, Osteopenia, Sclerotic cranial sutures, Osteolysis involving bones of the upper limbs... |
ORPHA:371428 |
Ellis-Van Creveld Syndrome |
|
Capitate-hamate fusion, Postaxial hand polydactyly, Genu valgum, Postaxial foot polydactyly, Shor... |
OMIM:225500 |
Geroderma Osteodysplasticum |
|
Osteopenia, Hyperextensibility of the finger joints, Recurrent fractures, Osteoporosis, Increased... |
OMIM:231070 |
Adiposis Dolorosa |
|
Recurrent skin infections, Arthritis, Xerostomia, Autoimmunity |
ORPHA:36397 |
Acute Interstitial Pneumonia |
|
Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Crackles, Elevate... |
ORPHA:79126 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Ventricular escape rhythm, Scapular winging, Proximal muscle weakness in upper limbs, Supraventri... |
ORPHA:98863 |
Nail-Patella Syndrome |
|
Flexion contracture, Patellar hypoplasia, Knee flexion contracture, Reduced bone mineral density,... |
ORPHA:2614 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... |
ORPHA:216694 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... |
OMIM:610913 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Joint laxity, Hip contracture, Hyperextensibility of the finger joints, Fetal ascites, Chronic ot... |
OMIM:619503 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Abnormal circulating pr... |
ORPHA:264675 |
Schwartz-Jampel Syndrome |
|
Micromelia, Micrognathia, Coxa vara, Wrist flexion contracture, Increased bone mineral density, A... |
ORPHA:800 |
Alkaptonuria |
|
Arthropathy, Vertebral fusion, Limited shoulder movement, Arthritis, Limited hip movement, Limita... |
OMIM:203500 |
Familial Osteodysplasia, Anderson Type |
|
Recurrent fractures, Aplastic clavicle, Missing ribs, Bifid femur, Increased susceptibility to fr... |
ORPHA:2769 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Colitis, Obesity |
ORPHA:88643 |
Sarcoidosis, Susceptibility To, 1 |
|
Abnormality of T cell physiology, Pancytopenia, Splenomegaly, Dyspnea, Iridocyclitis, Bronchiecta... |
OMIM:181000 |
Focal Facial Dermal Dysplasia Type Iv |
|
Intracranial hemorrhage, Abnormal mast cell morphology |
ORPHA:398189 |
Reynolds Syndrome |
|
Skin rash, Xerostomia, Arthritis, Keratoconjunctivitis sicca, Ascites, Infectious encephalitis |
ORPHA:779 |
Poems Syndrome |
|
Sclerosis of hand bone, Sclerosis of foot bone, Metaphyseal sclerosis, Clubbing of fingers, Scler... |
ORPHA:2905 |
Sarcoidosis, Susceptibility To, 2 |
|
Erythema nodosum, Splenomegaly, Dyspnea, Pneumothorax, Bronchiectasis, Uveitis, Abnormal pulmonar... |
OMIM:612387 |
Ciliary Dyskinesia, Primary, 1 |
|
Pneumonia, Asplenia, Atelectasis, Bronchiectasis, Immotile cilia, Chronic rhinitis, Chronic otiti... |
OMIM:244400 |
Hereditary Xanthinuria |
|
Arthropathy, Rheumatoid arthritis, Recurrent urinary tract infections, Gout |
ORPHA:3467 |
Sponastrime Dysplasia |
|
Delayed epiphyseal ossification, Generalized joint laxity, Metaphyseal widening, Osteopathia stri... |
ORPHA:93357 |
Nocardiosis |
|
Brain abscess, Pericarditis, Osteomyelitis, Abnormal heart valve morphology, Pneumonia, Liver abs... |
ORPHA:31204 |
Coenzyme Q10 Deficiency, Primary, 2 |
|
Aortic regurgitation, Overweight, Obesity, Mitral regurgitation, Pulmonary arterial hypertension |
OMIM:614651 |
Cousin Syndrome |
|
Hypoplastic scapulae, Rhizomelia, Micrognathia, Hypoplastic iliac wing, 4-5 toe syndactyly, Humer... |
OMIM:260660 |
Infant Acute Respiratory Distress Syndrome |
|
Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Sepsis, Hypoxemia,... |
ORPHA:70587 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:300861 |
Overlap Myositis |
|
Subluxation of the small joints of the hand, Autoimmunity, Antinuclear antibody positivity, Syste... |
ORPHA:206572 |
Aortic Aneurysm, Familial Thoracic 12 |
|
Arthritis |
OMIM:619825 |
Muscular Dystrophy, Duchenne Type |
|
Abnormal EKG, Elevated circulating creatine kinase concentration, Congestive heart failure, Dilat... |
OMIM:310200 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Apnea, Bronchiectasis, Respiratory insufficiency, Aspiration pneumonia, Neutropenia |
OMIM:618253 |
Atrial Septal Defect, Ostium Primum Type |
|
First degree atrioventricular block, Atrioventricular block, Right ventricular dilatation, Fixed ... |
ORPHA:99106 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Osteopenia, Rhizomelia, Micrognathia, Squared iliac bones, Small hand, Hypoplasia of the capital ... |
OMIM:611209 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Respiratory insufficiency due to muscle weakness, Respiratory failure, Recurrent aspiration pneum... |
ORPHA:2590 |
Behcet Syndrome |
|
Erythema nodosum, Iridocyclitis, Epididymitis, Arthritis, Iritis |
OMIM:109650 |
Campomelic Dysplasia |
|
Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Patellar hypoplasia, Femor... |
OMIM:114290 |
Cardiomyopathy, Familial Restrictive, 3 |
|
Myocardial sarcomeric disarray, Abnormal ST segment, Reduced left ventricular ejection fraction, ... |
OMIM:612422 |
Primary Sclerosing Cholangitis |
|
Recurrent systemic pyogenic infections, Abnormal eosinophil morphology, Splenomegaly, Hepatitis, ... |
ORPHA:171 |
Monosomy 18Q |
|
Abnormal myelination, Left-to-right shunt, Absence of the pulmonary valve, Abnormal retinal morph... |
ORPHA:1600 |
Laron Syndrome |
|
Osteoarthritis, Abnormality of the elbow |
ORPHA:633 |
Familial Mediterranean Fever |
|
Pericarditis, Skin rash, Myocardial infarction, Orchitis, Meningitis, Osteoarthritis, Vasculitis,... |
ORPHA:342 |
Raine Syndrome |
|
Increased bone mineral density, Bowing of the long bones, Micromelia, Micrognathia, Subperiosteal... |
OMIM:259775 |
Onychotrichodysplasia And Neutropenia |
|
Chronic irritative conjunctivitis, Chronic neutropenia, Recurrent infections, Lymphocytosis, Neut... |
OMIM:258360 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
11 pairs of ribs, Joint hypermobility, Joint stiffness, Short long bone, Short palm, Tracheobronc... |
OMIM:619184 |
Werner Syndrome |
|
Increased bone mineral density, Rocker bottom foot, Joint stiffness, Small hand, Osteoporosis |
ORPHA:902 |
Pemphigus Erythematosus |
|
Antinuclear antibody positivity, Anti-acetylcholine receptor antibody positivity, Autoimmunity, S... |
ORPHA:79480 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Splenomegaly, Recurrent upper respiratory tract infections, Restrictive ventilatory defect, Respi... |
OMIM:620296 |
Autosomal Recessive Spastic Paraplegia Type 67 |
|
Abnormal myelination |
ORPHA:401820 |
Autosomal Recessive Spastic Paraplegia Type 69 |
|
Abnormal myelination |
ORPHA:401830 |
Takayasu Arteritis |
|
Arthritis, Increased inflammatory response, Inflammatory abnormality of the eye |
ORPHA:3287 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Macroglossia, Increased body mass index, Increased body weight |
OMIM:614450 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type |
|
Joint laxity, Radial head subluxation, Multiple joint dislocation, Genu varum, Premature osteoart... |
ORPHA:93360 |
Acrorenal-Mandibular Syndrome |
|
Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Micrognathia, Missing ribs, Split h... |
OMIM:200980 |
Opsismodysplasia |
|
Short metacarpal, Rhizomelia, Hypoplasia of the odontoid process, Squared iliac bones, Hypoplasti... |
OMIM:258480 |
Lassa Fever |
|
Dyspnea, Sepsis, Increased circulating IgM level, Conjunctivitis, Cough |
ORPHA:99824 |
X-Linked Centronuclear Myopathy |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Recurrent respiratory i... |
ORPHA:596 |
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
|
Secundum atrial septal defect, Abnormal EKG, Pulmonic stenosis |
OMIM:178650 |
Ciliary Dyskinesia, Primary, 5 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Recurrent pneumonia, Bronchiecta... |
OMIM:608647 |
Immunodeficiency 31C |
|
Impaired lymphocyte transformation with phytohemagglutinin, Chronic oral candidiasis, Autoimmune ... |
OMIM:614162 |
Myotonic Dystrophy 2 |
|
Tachycardia, Elevated circulating creatine kinase concentration, Premature ventricular contractio... |
OMIM:602668 |
Kid Syndrome |
|
Recurrent cutaneous abscess formation, Recurrent bacterial skin infections, Psoriasiform dermatit... |
ORPHA:477 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Bowing of the long bones, Micromelia, Micrognathia, Short long bone, Talipes equinovarus |
OMIM:224410 |
Diffuse Cutaneous Mastocytosis |
|
Abnormality of the spleen, Wheezing, Myeloproliferative disorder, Lymphocytosis, Erythroderma |
ORPHA:79456 |
Cardiomyopathy, Dilated, 1Nn |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... |
OMIM:615916 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Joint laxity, Short metacarpal, Toe syndactyly, Micrognathia, Short metatarsal, Small hand, Small... |
OMIM:170390 |
Primary Ciliary Dyskinesia |
|
Recurrent sinopulmonary infections, Neonatal respiratory distress, Peribronchovascular interstiti... |
ORPHA:244 |
Lethal Congenital Contracture Syndrome 10 |
|
Stiff neck, Micrognathia, Femoral bowing, Short long bone, Talipes equinovarus, Overlapping finge... |
OMIM:617022 |
Alpha-Mannosidosis, Adult Form |
|
Pancytopenia, Pneumonia, Recurrent infections, Hepatosplenomegaly, Recurrent gastroenteritis |
ORPHA:309288 |
Immunodeficiency 47 |
|
Normocytic anemia, Accessory spleen, Tricuspid regurgitation, Decreased circulating copper concen... |
OMIM:300972 |
Nijmegen Breakage Syndrome |
|
Autoimmune hemolytic anemia, Sinusitis, Recurrent urinary tract infections, Dysgammaglobulinemia,... |
OMIM:251260 |
Medullary cystic kidney disease 2 |
|
Tubulointerstitial nephritis, Gout |
OMIM:603860 |
Autosomal Dominant Centronuclear Myopathy |
|
Proximal muscle weakness in upper limbs, Large for gestational age, Centrally nucleated skeletal ... |
ORPHA:169189 |
Insulin-Resistance Syndrome Type B |
|
Skin rash, Pneumonia, Decreased circulating complement factor B concentration, Increased circulat... |
ORPHA:2298 |
Morgagni-Stewart-Morel Syndrome |
|
Osteoarthritis, Acne, Osteoporosis |
ORPHA:77296 |
Mast Cell Sarcoma |
|
Mastocytosis, Splenomegaly |
ORPHA:66661 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Prolonged QT interval, Tachycardia, Atrial fibrillation, Hypertriglyceridemia, Elevated circulati... |
OMIM:613327 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Fibrofatty replacement of right ventricular myocardium, Right ventricular cardiomyopathy, Prolong... |
OMIM:609040 |
Aicardi-Goutieres Syndrome 7 |
|
Hemolytic anemia, Pancytopenia, Atrophic gastritis, Skin rash, Chilblains, Pneumonia, Splenomegal... |
OMIM:615846 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Abnormal T cell morphology, Cor pulmonale, Decreased circulating IgA level |
OMIM:215250 |
Congenital Aortic Valve Stenosis |
|
Angina pectoris, Sudden cardiac death, Aortic valve calcification, Aortic valve atresia, Increase... |
ORPHA:3093 |
Anterior Cutaneous Nerve Entrapment Syndrome |
|
Recurrent urinary tract infections, Recurrent infection of the gastrointestinal tract, Allodynia,... |
ORPHA:51890 |
Sanjad-Sakati Syndrome |
|
Short foot, Small hand, Patchy osteosclerosis, Micrognathia |
ORPHA:2323 |
12Q14 Microdeletion Syndrome |
|
Clinodactyly of the 5th finger, Osteopoikilosis, Micrognathia |
ORPHA:94063 |
Tick-Borne Encephalitis |
|
Elevated circulating C-reactive protein concentration, Leukocytosis, Increased circulating IgG le... |
ORPHA:297 |
Congenital Analbuminemia |
|
Increased alpha-globulin, Increased circulating antibody level, Hypoalbuminemia, Recurrent lower ... |
ORPHA:86816 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Arthritis |
ORPHA:397744 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Arthritis, Peritonitis, Limitation of joint mobility, Recurrent aphthous stomatitis |
ORPHA:343 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Crackles, Atelectasis, Leukocytosis, Dyspnea, Asthma, Bronchiectasis, Wheezing, Abnormal pulmonar... |
OMIM:620233 |
Epilepsy-Telangiectasia Syndrome |
|
Conjunctival telangiectasia, Decreased circulating IgA level, Decreased circulating antibody level |
ORPHA:1951 |
Frank-Ter Haar Syndrome |
|
Osteopenia, Bowing of the long bones, Micrognathia, Metatarsus adductus, Wide anterior fontanel, ... |
OMIM:249420 |
Cardiac Diverticulum |
|
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Atrial septal defect, P... |
ORPHA:1686 |
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Skeletal muscle atrophy, Achilles tendon contracture, Ragged-red muscle fibers, Obesity, Heart mu... |
OMIM:615418 |
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Increased circulating interleukin 8 concentration, Recurrent pneumonia, Bronchiectasis, Colitis, ... |
OMIM:301220 |
Diffuse Cutaneous Systemic Sclerosis |
|
Autoimmunity, Flexion contracture, Xerostomia, Osteolysis, Arthritis |
ORPHA:220393 |
Mild Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Arthritis |
ORPHA:411536 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Osteopenia, Micromelia, Micrognathia, Abnormal finger morphology, Short palm, Large iliac wing, C... |
ORPHA:2636 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia |
OMIM:619057 |
Multiple Myeloma |
|
Increased circulating IgA level, Splenomegaly, Decreased circulating antibody level, Increased ci... |
ORPHA:29073 |
Ectodermal Dysplasia And Immunodeficiency 2 |
|
Splenomegaly, Defective production of NFKB1-dependent cytokines, Recurrent infection of the gastr... |
OMIM:612132 |
Stickler Syndrome, Type I |
|
Arthropathy, Joint stiffness, Osteoarthritis, Arthritis, Joint hypermobility |
OMIM:108300 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Colonic diverticula, Intestinal pseudo-obstruction, Cachexia, Malabsorption, Intestinal perforati... |
OMIM:603041 |
13Q12.3 Microdeletion Syndrome |
|
Recurrent respiratory infections, Congenital diaphragmatic hernia, Cryptorchidism, Obesity, Campt... |
ORPHA:412035 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Limited hip extension, Genu recurvatum, Flexion contracture, Tibial bowing, Knee dislocation, Sho... |
OMIM:143095 |
Xq28 (MECP2) duplication |
|
Recurrent respiratory infections, Decreased circulating IgA level |
DECIPHER:45 |
Mirage Syndrome |
|
Recurrent urinary tract infections, Sepsis, Anemia, Leukopenia, Recurrent bacterial infections, A... |
OMIM:617053 |
Bardet-Biedl Syndrome 3 |
|
Tricuspid regurgitation, Obesity, Postaxial polydactyly, Brachydactyly |
OMIM:600151 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Osteopenia, Osteoarthritis, Generalized joint laxity, Hip dislocation, Osteoporosis, Knee disloca... |
OMIM:618000 |
Wiedemann-Rautenstrauch Syndrome |
|
Long toe, Short humerus, Short femur, Micrognathia, Hypoplastic ilia, Long fingers, Flexion contr... |
OMIM:264090 |
Carpenter Syndrome |
|
Finger syndactyly, Syndactyly, Toe syndactyly, Cryptorchidism, Postaxial hand polydactyly, Obesit... |
ORPHA:65759 |
Gaucher Disease Type 3 |
|
Recurrent respiratory infections, Pancytopenia, Splenomegaly, Abnormal pulmonary interstitial mor... |
ORPHA:77261 |
Sclerosteosis 1 |
|
Syndactyly, Sclerotic scapulae, 2-3 finger syndactyly, Facial palsy secondary to cranial hyperost... |
OMIM:269500 |
Congenital Sialidosis Type 2 |
|
Hypoplasia of the fovea, Abnormal EKG, Optic atrophy, Telangiectasia, Abnormal heart morphology, ... |
ORPHA:93400 |
Wolcott-Rallison Syndrome |
|
Recurrent infections, Iron deficiency anemia, Hypoalbuminemia, Lymphocytosis, Neutropenia |
ORPHA:1667 |
Autosomal Recessive Spastic Paraplegia Type 70 |
|
Abnormal myelination |
ORPHA:401835 |
Hyperuricemia, Hprt-Related |
|
Podagra |
OMIM:300323 |
Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Increased circulating interleukin 6 concentration, Pneumonia, Epistaxis, Gl... |
ORPHA:340 |
Simpson-Golabi-Behmel Syndrome |
|
Splenomegaly, Increased circulating IgE level, Polysplenia |
ORPHA:373 |
Mohr-Tranebjaerg Syndrome |
|
Agammaglobulinemia, Aspiration pneumonia |
ORPHA:52368 |
Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Elbow contracture, Micrognathia, Short metatarsal, Femoral bowing, Ti... |
OMIM:304120 |
Congenital Left Ventricular Aneurysm |
|
Congestive heart failure, Abnormal ST segment, Abnormal left ventricle morphology, Abnormal T-wav... |
ORPHA:1055 |
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin |
|
Decreased circulating IgA level |
OMIM:235500 |
Absence Of The Pulmonary Artery |
|
Abnormal EKG, Atrial flutter, Tachycardia, Atrial fibrillation, Recurrent respiratory infections,... |
ORPHA:980 |
Wild Type Attr Amyloidosis |
|
Abnormal EKG, Myocardial infarction, Congestive heart failure, Bradycardia, Arrhythmia, Hypertrop... |
ORPHA:330001 |
Acromelic Frontonasal Dysplasia |
|
Preaxial foot polydactyly, Aplasia/Hypoplasia of the tibia, Talipes equinovarus, Patellar hypoplasia |
ORPHA:1827 |
Bloom Syndrome |
|
Elevated hemoglobin A1c, Recurrent upper respiratory tract infections, Bronchiectasis, Malar rash... |
OMIM:210900 |
Hepatic Veno-Occlusive Disease |
|
Increased body weight |
ORPHA:890 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Recurrent respiratory infections, Pancytopenia, Portal hypertension, Hypersplenism, Splenomegaly,... |
OMIM:613385 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Tachycardia, Increased body weight |
ORPHA:276608 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Episcleritis, Increased circulating interleukin 6 concentration, Increased circulating interleuki... |
OMIM:256040 |
Femoral-Facial Syndrome |
|
Short third metatarsal, Short humerus, Short fourth metatarsal, Toe syndactyly, Short fifth metat... |
OMIM:134780 |
Viss Syndrome |
|
Chronic gastritis, Eczema, Dyspnea, Asthma, Increased circulating IgE level, Hypereosinophilia, P... |
OMIM:619472 |
Mogs-Cdg |
|
Decreased circulating IgG level, Cardiomegaly, Optic atrophy, Decreased circulating antibody leve... |
ORPHA:79330 |
Dowling-Degos Disease |
|
Arthritis, Acne inversa |
ORPHA:79145 |
Cardiogenic Shock |
|
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... |
ORPHA:97292 |
Cryoglobulinemic Vasculitis |
|
Arthritis, Keratoconjunctivitis sicca, Viral hepatitis |
ORPHA:91138 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Granulomatous cholangitis, Ulcerative colitis, Increased circulating IgG level, Inflammation of t... |
ORPHA:562639 |
Autoimmune Polyendocrinopathy Type 4 |
|
Osteopenia, Atrophic gastritis, Antiphospholipid antibody positivity, Autoimmunity, Autoimmune th... |
ORPHA:227990 |
Lysinuric Protein Intolerance |
|
Glomerulonephritis, Thrombocytopenia, Increased circulating ferritin concentration, Intraalveolar... |
ORPHA:470 |
Calcific Aortic Disease With Immunologic Abnormalities, Familial |
|
Aortic regurgitation, Aortic valve calcification, Aortic valve stenosis, Increased circulating an... |
OMIM:114065 |
Mucolipidosis Ii Alpha/Beta |
|
Osteopenia, Micrognathia, Metaphyseal widening, Hypoplasia of the odontoid process, Split hand, F... |
OMIM:252500 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Abnormal blood inorganic cation concentration, Portal hypertension, Splenomegaly, Astrocytosis, H... |
ORPHA:309854 |
Wiedemann-Rautenstrauch Syndrome |
|
Osteopenia, Long toe, Short humerus, Short femur, Camptodactyly of finger, Hypoplastic ilia, Long... |
ORPHA:3455 |
Myasthenia Gravis |
|
Myositis, Anti-acetylcholine receptor antibody positivity, Anti-muscle-specific tyrosine kinase a... |
ORPHA:589 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Accessory spleen, Lymphopenia, Severe B lymphocytopenia, Portal hypertension, Thrombocytopenia, R... |
OMIM:620005 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Osteomyelitis, Cardiac shunt, Elevated circulating C-reactive protein concentration, Pulmonary em... |
ORPHA:70591 |
Japanese Encephalitis |
|
Respiratory distress, Neutrophilia, Pulmonary edema, Increased circulating IgM level, Respiratory... |
ORPHA:79139 |
Hydrolethalus Syndrome 1 |
|
Micrognathia, Preaxial hand polydactyly, Postaxial hand polydactyly, Duplication of phalanx of ha... |
OMIM:236680 |
Encephalitis Lethargica |
|
Recurrent viral infections, Increased circulating antibody level, Hyperventilation |
ORPHA:83600 |
Severe Acute Respiratory Syndrome |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu... |
ORPHA:140896 |
Acute Radiation Syndrome |
|
Inflammatory abnormality of the skin, Interstitial pneumonitis, Granulocytopenia, Lymphopenia, Th... |
ORPHA:454831 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Abnormal EKG, Elevated circulating creatine kinase concentration, Cardiomegaly, Right bundle bran... |
ORPHA:268 |
Cranioectodermal Dysplasia 1 |
|
Joint laxity, Broad toe, Brachydactyly, Short humerus, Rhizomelia, Sagittal craniosynostosis, Bro... |
OMIM:218330 |
Rift Valley Fever |
|
Skin rash, Hepatitis, Uveitis, Anemia, Increased circulating IgG level, Increased circulating IgM... |
ORPHA:319251 |
Congenital Tufting Enteropathy |
|
Arthritis, Punctate keratitis, Dehydration |
ORPHA:92050 |
Autoimmune Polyendocrinopathy Type 3 |
|
Osteopenia, Atrophic gastritis, Antiphospholipid antibody positivity, Autoimmunity, Autoimmune th... |
ORPHA:227982 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Thrombocytopenia, Dyspnea, Leukopenia, Interstitial pneumonitis, Increased mean ... |
OMIM:127550 |
Localized Scleroderma |
|
Fasciitis, Autoimmunity, Flexion contracture, Uveitis, Arthritis, Esophagitis, Sclerosis of finge... |
ORPHA:90289 |
Larsen Syndrome |
|
Joint laxity, Vertebral fusion, Short metacarpal, Spatulate thumbs, Talipes equinovalgus, Accesso... |
OMIM:150250 |
Parenteral Nutrition-Associated Cholestasis |
|
Splenomegaly, Abnormality of cytokine secretion |
ORPHA:567983 |
Macrocephaly/Autism Syndrome |
|
Large for gestational age, Obesity, Recurrent infections, Hydrocele testis, Overgrowth, High pala... |
OMIM:605309 |
Systemic Lupus Erythematosus |
|
Lupus nephritis, Discoid lupus rash, Antinuclear antibody positivity, Anti-La/SS-B antibody posit... |
ORPHA:536 |
Scleromyxedema |
|
Elevated circulating creatine kinase concentration, Abnormal lung morphology, Paraproteinemia, Ab... |
ORPHA:167635 |
Sporadic Creutzfeldt-Jakob Disease |
|
Respiratory failure requiring assisted ventilation, Recurrent aspiration pneumonia, Sepsis, Recur... |
ORPHA:204 |
Osteopathia Striata With Cranial Sclerosis |
|
Paranasal sinus hypoplasia, Arachnodactyly, Micrognathia, Craniofacial osteosclerosis, Osteopathi... |
OMIM:300373 |
Inflammatory Pseudotumor Of The Liver |
|
Increased hepatitis B virus antibody level, Elevated circulating alpha-fetoprotein concentration |
ORPHA:90003 |
Prolactin Deficiency With Obesity And Enlarged Testes |
|
Macroorchidism, Obesity |
OMIM:264120 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Apnea, Crazy paving pattern, Nodular pattern on pulmonary HRCT, Tachypnea, ... |
OMIM:610921 |
Glycogen Storage Disease Vii |
|
Gout |
OMIM:232800 |
Cryptococcosis |
|
Respiratory distress, Lymphoid leukemia, Osteomyelitis, Pneumonia, Nodular pattern on pulmonary H... |
ORPHA:1546 |
Congenital Tricuspid Stenosis |
|
Rheumatoid arthritis, Bacterial endocarditis |
ORPHA:95459 |
Autoimmune Hypoparathyroidism |
|
Increased bone mineral density |
ORPHA:36913 |
Yellow Fever |
|
Increased circulating interleukin 6 concentration, Neutrophilia, Acute pancreatitis, Skin rash, E... |
ORPHA:99829 |
Fanconi Anemia, Complementation Group F |
|
Pneumonia, Anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:603467 |
Proprotein Convertase 1/3 Deficiency |
|
Villous atrophy, Obesity, Malabsorption |
OMIM:600955 |
Timothy Syndrome |
|
Pulmonary arterial hypertension, Pneumonia, Bronchitis, Recurrent infections |
OMIM:601005 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Short humerus, Trident pelvis, Bowed humerus, Flexion contracture, Short long bone, Brachydactyly |
OMIM:619479 |
Bronchogenic Cyst |
|
Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Dyspnea, Atelectasis, Cough, Bronchogenic ... |
ORPHA:2357 |
Immunoglobulin A Vasculitis |
|
Episcleritis, Skin rash, Edema, Pustule, Orchitis, Angioedema, Arthritis, Infectious encephalitis |
ORPHA:761 |
Trichothiodystrophy |
|
Osteopenia, Increased bone mineral density, Multiple joint contractures, Craniosynostosis, Hypopl... |
ORPHA:33364 |
Meconium Aspiration Syndrome |
|
Respiratory distress, Neonatal asphyxia, Wheezing, Atelectasis, Pneumothorax, Hypoxemia, Aspirati... |
ORPHA:70588 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Increased density of long bones, Wide distal femoral metaphysis, Postaxial hand polydactyly, Apla... |
OMIM:269150 |
Primary Biliary Cholangitis |
|
Increased circulating IgA level, Hepatitis, Gastrointestinal inflammation, Increased circulating ... |
ORPHA:186 |
Atypical Werner Syndrome |
|
Sclerosis of hand bone, Pes planus, Increased bone mineral density, Rocker bottom foot, Micrognat... |
ORPHA:79474 |
Dextrocardia |
|
Abnormal EKG, Dextrocardia, Situs inversus totalis, Abnormality of the spleen, Abnormal heart mor... |
ORPHA:1666 |
Congenital Tracheomalacia |
|
Apnea, Decreased peak expiratory flow, Cough, Emphysema, Neonatal respiratory distress, Intercost... |
ORPHA:95430 |
Smith-Magenis Syndrome |
|
Velopharyngeal insufficiency, Increased body weight, Brachydactyly, Short palm |
OMIM:182290 |
Thymoma |
|
Myositis, Glomerulonephritis, Autoimmunity, Anti-acetylcholine receptor antibody positivity, Ulce... |
ORPHA:99867 |
Gm1 Gangliosidosis Type 1 |
|
Hypoplastic vertebral bodies, Flared iliac wing, Short long bone, Flattened femoral head, Acetabu... |
ORPHA:79255 |
Osteoporosis-Pseudoglioma Syndrome |
|
Osteopenia, Recurrent fractures, Metaphyseal widening, Osteoporosis, Increased susceptibility to ... |
OMIM:259770 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Skin rash, Eczema, Erythema nodosum, Recurrent infections, Arthritis, Panniculitis, Recurrent sin... |
OMIM:615688 |
Transcobalamin Ii Deficiency |
|
Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Decreased circulating t... |
OMIM:275350 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Exercise-induced rhabdomyolysis, Tachycardia, Small for gestational age, O... |
ORPHA:26793 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Hip osteoarthritis, Limitation of joint mobility |
OMIM:313400 |
Friedreich Ataxia |
|
Abnormal EKG, Hypertrophic cardiomyopathy, Optic atrophy, Congestive heart failure |
OMIM:229300 |
Short-Rib Thoracic Dysplasia 12 |
|
Hypoplastic scapulae, Bowing of the legs, Short toe, Short foot, Short long bone, Limb undergrowt... |
OMIM:269860 |
Desmosterolosis |
|
Rhizomelia, Micrognathia, Generalized osteosclerosis, Bilateral talipes equinovarus, Arthrogrypos... |
OMIM:602398 |
Ulnar-Mammary Syndrome |
|
Abnormal morphology of the radius, Camptodactyly of finger, Abnormality of the humerus, Cryptorch... |
ORPHA:3138 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Optic atrophy, Abnormal myelination |
ORPHA:352682 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Skeletal muscle atrophy, Increased sarcoplasmic glycogen, Esophageal varix, Increased body weight... |
ORPHA:264580 |
Hennekam-Beemer Syndrome |
|
Telangiectasia of the skin, Pneumonia, Vomiting, Hypotension, Mastocytosis, Arrhythmia |
ORPHA:2135 |
Congenital Disorder Of Glycosylation, Type Iib |
|
Demyelinating peripheral neuropathy, Optic atrophy, Decreased circulating IgA level, Decreased ci... |
OMIM:606056 |
Kinsship Syndrome |
|
Osteopenia, Pes planus, Coxa valga, Micrognathia, Hip dislocation, Fibular hypoplasia, Polydactyl... |
OMIM:619297 |
Glycogen Storage Disease Ib |
|
Osteoporosis, Gout, Recurrent bacterial infections, Inflammation of the large intestine, Pancreat... |
OMIM:232220 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Restrictive ventilatory defect, Pneumonia, Elevated circulating creatine kinase concentration |
OMIM:253700 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type |
|
Short foot, Broad hallux, Increased body weight, 2-3 toe syndactyly |
OMIM:300860 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypertriglyceridemia, Hypercalcemia, Abnormal heart morphology, Decreased circulating total IgM, ... |
ORPHA:369837 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Skeletal muscle atrophy, Limb-girdle muscle weakness, Rhabdomyolysis, Increased body weight, Hepa... |
ORPHA:79240 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Hypertension, Abdominal obesity, Increased body weight |
OMIM:615954 |
Idiopathic Camptocormia |
|
Abnormal inflammatory response, Osteoarthritis, Myelitis, Myositis |
ORPHA:1320 |
Abcd Syndrome |
|
Large for gestational age, Aganglionic megacolon, Total intestinal aganglionosis |
OMIM:600501 |
Tako-Tsubo Cardiomyopathy |
|
Prolonged QTc interval, Mildly reduced left ventricular ejection fraction, Obesity, Bradycardia, ... |
ORPHA:66529 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Gout |
ORPHA:79233 |
Cushing Disease |
|
Acne, Leukocytosis, Recurrent cutaneous fungal infections, Decreased eosinophil count, Lymphopenia |
ORPHA:96253 |
Lymphoid Interstitial Pneumonia |
|
Skin rash, Eczema, Autoimmunity, Autoimmune antibody positivity, Bronchiectasis, Keratoconjunctiv... |
ORPHA:79128 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Apnea, Episodic tachypnea, Aspiration pneumonia |
ORPHA:79264 |
Aapoaiv Amyloidosis |
|
Abnormal lung morphology, Paraproteinemia, Chronic pulmonary obstruction |
ORPHA:439232 |
Igg4-Related Retroperitoneal Fibrosis |
|
Psoriasiform dermatitis, Deep dermal perivascular inflammatory infiltrate, Rheumatoid factor posi... |
ORPHA:49041 |
Dopamine Beta-Hydroxylase Deficiency |
|
Abnormal EKG, Orthostatic hypotension, Elevated circulating creatinine concentration, Syncope, Or... |
ORPHA:230 |
Sotos Syndrome |
|
Cryptorchidism, High, narrow palate, Long metacarpals, Increased body weight, Narrow palate, Genu... |
OMIM:117550 |
Orofaciodigital Syndrome Type 4 |
|
Finger syndactyly, Camptodactyly of finger, Micromelia, Micrognathia, Preaxial hand polydactyly, ... |
ORPHA:2753 |
Loeys-Dietz Syndrome 6 |
|
Hip osteoarthritis, Knee osteoarthritis, Intervertebral disc degeneration |
OMIM:619656 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Abnormal respiratory system physiology, Recurrent respiratory infections, Respiratory failure, Pn... |
ORPHA:98905 |
Dyskeratosis Congenita, Digenic |
|
Recurrent infections, Decreased circulating total IgM, Decreased circulating IgG level, Anemia, D... |
OMIM:620040 |
Smith-Kingsmore Syndrome |
|
Thrombocytopenia, Decreased circulating IgA level |
OMIM:616638 |
Cog1-Cdg |
|
Osteopenia, Rhizomelia, Micrognathia, Coxa valga, Flat acetabular roof, Short long bone, Talipes ... |
ORPHA:263508 |
Gaucher Disease |
|
Pancytopenia, Osteomyelitis, Elevated circulating C-reactive protein concentration, Splenomegaly,... |
ORPHA:355 |
Celiac Disease, Susceptibility To, 1 |
|
Macrocytic anemia, Eczema, Thyroiditis, Iron deficiency anemia, Recurrent aphthous stomatitis, Hy... |
OMIM:212750 |
Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Small for gestational age, Increased body weight |
OMIM:274300 |
Insulinoma |
|
Increased body weight, Zollinger-Ellison syndrome, Palpitations |
ORPHA:97279 |
Gaucher Disease, Type Ii |
|
Apnea, Splenomegaly, Anemia, Stridor, Cough, Bronchiolitis, Recurrent aspiration pneumonia, Throm... |
OMIM:230900 |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Prolonged QT interval, Abnormal EKG, Elevated circulating creatine kinase concentration, Elevated... |
ORPHA:480864 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Myositis, Increased circulating IgG4 level, Increased circulating IgA level, Thyroiditis, Increas... |
ORPHA:79078 |
Cockayne Syndrome Type 3 |
|
Optic disc pallor, Retinal atrophy, Retinal dystrophy, Demyelinating peripheral neuropathy, Splen... |
ORPHA:90324 |
Neuroleptic Malignant Syndrome |
|
Elevated circulating creatine kinase concentration, Pulmonary embolism, Leukocytosis, Sepsis, Asp... |
ORPHA:94093 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Atrial septal defect, Decreased circulating total IgM, Eczema, Allergic rhinitis |
OMIM:618162 |
Tetrasomy 9P |
|
Pericarditis, Myositis, Abnormal chorioretinal morphology, Dextrocardia, Recurrent urinary tract ... |
ORPHA:3310 |
Plague |
|
Chapped lip, Skin rash, Edema, Erythema nodosum, Lymphadenitis, Abnormality of the elbow, Sepsis,... |
ORPHA:707 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Cone/cone-rod dystrophy, Optic disc pallor, Recurrent respiratory infections, Splenomegaly, Delay... |
ORPHA:404454 |
Dubowitz Syndrome |
|
Decreased circulating IgG level, Aplastic anemia, Eczema, Recurrent infections, Acute lymphoblast... |
OMIM:223370 |
Myhre Syndrome |
|
Vertebral fusion, Overlapping toe, Joint stiffness, Hypoplastic iliac wing, Short toe, Limitation... |
OMIM:139210 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Nongranulomatous uveitis, Anterior uveitis, Skin rash, Elevated circulating C-... |
ORPHA:91500 |
Gm1 Gangliosidosis |
|
Recurrent respiratory infections, Splenomegaly, Hepatosplenomegaly, Aspiration pneumonia, Infecti... |
ORPHA:354 |
Cleft Velum |
|
Recurrent otitis media, Aspiration pneumonia |
ORPHA:99772 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Increased circulating antibody level, Elevated circulating creatine kinase concentration, Elevate... |
OMIM:606002 |
Bronchial Neuroendocrine Tumor |
|
Pneumonia, Dyspnea, Nonproductive cough, Asthma, Wheezing, Abnormal pulmonary interstitial morpho... |
ORPHA:97287 |
Robinow Syndrome, Autosomal Dominant 1 |
|
Limited elbow extension and supination, Brachydactyly, Broad toe, Rhizomelia, Micrognathia, Wide ... |
OMIM:180700 |
Aymé-Gripp Syndrome |
|
Pericardial effusion, Pericarditis |
ORPHA:1272 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Tachycardia, Increased body weight, Large for gestational age |
ORPHA:263455 |
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult |
|
Arthritis, Osteolytic defects of the phalanges of the hand, Foot acroosteolysis |
OMIM:161700 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Recurrent respiratory infections, Cryptorchidism, Flexion contracture, Xerostomia, Increased body... |
ORPHA:398069 |
Non-Specific Early-Onset Epileptic Encephalopathy |
|
Optic atrophy, Retinal degeneration, Abnormal myelination |
ORPHA:442835 |
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph... |
ORPHA:217563 |
Okur-Chung Neurodevelopmental Syndrome |
|
Decreased circulating antibody level, Decreased circulating IgG level, Decreased circulating IgA ... |
OMIM:617062 |
Hereditary Spherocytosis |
|
Maculopapular exanthema, Gout |
ORPHA:822 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Postaxial polydactyly, Postaxial hand polydactyly, Aplasia of the epiglottis, Cone-shaped epiphys... |
OMIM:617088 |
Dysbetalipoproteinemia |
|
Acute pancreatitis, Gout |
ORPHA:412 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Aspiration pneumonia |
ORPHA:314655 |
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
Abnormal myelination |
ORPHA:289266 |
Alpha-Mannosidosis, Infantile Form |
|
Recurrent urinary tract infections, Pancytopenia, Pneumonia, Hepatosplenomegaly, Recurrent infect... |
ORPHA:309282 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Osteopenia, Osteoporosis, Enterocolitis, Gout, Increased susceptibility to fractures, Ulcerative ... |
ORPHA:79259 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3 |
|
Pneumonia |
OMIM:608033 |
Marshall Syndrome |
|
Osteoarthritis, Genu valgum |
ORPHA:560 |
Glycogen Storage Disease Ic |
|
Chronic pancreatitis, Recurrent upper respiratory tract infections, Gout, Inflammation of the lar... |
OMIM:232240 |
Sitosterolemia 1 |
|
Arthritis |
OMIM:210250 |
Hereditary Bullous Dystrophy, Macular Type |
|
Pneumonia |
ORPHA:1867 |
Liver Disease, Severe Congenital |
|
Chronic gastritis, Recurrent urinary tract infections, Eczema, Pneumonia, Elevated circulating al... |
OMIM:619991 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Decreased circulating IgA level |
ORPHA:457485 |
Glycogen Storage Disease Ia |
|
Osteoporosis, Pancreatitis, Gout |
OMIM:232200 |
Wilson Disease |
|
Osteomalacia, Edema, Joint hypermobility, Osteoarthritis, Atypical or prolonged hepatitis, Osteop... |
OMIM:277900 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Hypertension, Increased body weight |
OMIM:615830 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Tubulointerstitial nephritis, Gout |
OMIM:174000 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Respiratory distress, Recurrent urinary tract infections, Recurrent skin infections, Pneumonia, D... |
ORPHA:79404 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Gout, Recurrent infections |
OMIM:300661 |
Ulbright-Hodes Syndrome |
|
Short humerus, Short metacarpal, Micrognathia, Humeroradial synostosis, Hypoplasia of the radius,... |
ORPHA:3404 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Anterior uveitis, Infla... |
ORPHA:95455 |
Blue Diaper Syndrome |
|
Increased body weight |
ORPHA:94086 |
Amoebiasis Due To Free-Living Amoebae |
|
Sinusitis, Pneumonia, Respiratory tract infection, Pustule, Granuloma, Infectious encephalitis, I... |
ORPHA:68 |
Degcags Syndrome |
|
Tachycardia, Recurrent urinary tract infections, Ventricular septal defect, Pneumonia, Pancytopen... |
OMIM:619488 |
Neutral Lipid Storage Myopathy |
|
Hand muscle weakness, Fatty replacement of skeletal muscle, Congestive heart failure, Obesity, Ge... |
ORPHA:98908 |
Hyperoxaluria, Primary, Type I |
|
Pathologic fracture, Increased bone mineral density |
OMIM:259900 |
Cysticercosis |
|
Iridocyclitis, Increased circulating antibody level, Infectious encephalitis |
ORPHA:1560 |
Benign Schwannoma |
|
Intestinal polyposis, Facial palsy, Abnormal fibula morphology, Abnormal parotid gland morphology... |
ORPHA:252164 |
Loeys-Dietz Syndrome 5 |
|
Eosinophilic infiltration of the esophagus, Osteoarthritis, Congenital finger flexion contracture... |
OMIM:615582 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Aspiration pneumonia, Cough |
ORPHA:216866 |
Igg4-Related Thyroid Disease |
|
Thyroiditis, Sclerosing cholangitis, Hashimoto thyroiditis, Increased circulating IgG4 level |
ORPHA:64744 |
Say-Barber-Miller Syndrome |
|
Eczema, Erythema nodosum, Transient hypogammaglobulinemia of infancy, Decreased circulating antib... |
ORPHA:3132 |
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis |
|
Abnormal myelination |
OMIM:617333 |
Infantile Neuroaxonal Dystrophy |
|
Apneic episodes in infancy, Aspiration pneumonia |
ORPHA:35069 |
Williams Syndrome |
|
Osteopenia, Joint laxity, Increased bone mineral density, Hallux valgus, Pes planus, Down-sloping... |
ORPHA:904 |
Ayme-Gripp Syndrome |
|
Pericarditis |
OMIM:601088 |
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency |
|
Pancreatitis, Aspiration pneumonia |
ORPHA:431361 |
Chops Syndrome |
|
Splenomegaly, Anomalous pulmonary venous return, Aspiration pneumonia, Tracheomalacia, Chronic lu... |
OMIM:616368 |
Pelizaeus-Merzbacher Disease, Connatal Form |
|
Cerebral hypomyelination, Gliosis, Abnormal myelination |
ORPHA:280210 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Acne, Small cell lung carcinoma, Leukocytosis, Recurrent cutaneous fungal infections, Decreased e... |
ORPHA:99889 |
Chronic Graft Versus Host Disease |
|
Fasciitis, Urinary bladder inflammation, Flexion contracture, Xerostomia, Bronchiectasis, Recurre... |
ORPHA:99921 |
Proximal Spinal Muscular Atrophy |
|
Hypoventilation, Neonatal respiratory distress, Recurrent infections due to aspiration, Respirato... |
ORPHA:70 |
Adrenocortical Carcinoma |
|
Hypertension, Increased body weight, Palpitations, Weight loss |
ORPHA:1501 |
Mucopolysaccharidosis, Type Vi |
|
Pneumonia, Splenomegaly, Recurrent upper respiratory tract infections, Restrictive ventilatory de... |
OMIM:253200 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Hypertension, Abdominal obesity, Increased body weight, Proximal amyotrophy |
ORPHA:189427 |
Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Increased body weight |
ORPHA:64745 |
Charge Syndrome |
|
Hypoplasia of the ulna, Down-sloping shoulders, Micrognathia, Absent radius, Short thumb, Hand mo... |
OMIM:214800 |
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant |
|
Osteoarthritis |
OMIM:619714 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Arthritis, Joint hyperflexibility |
ORPHA:93111 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Fasciitis, Osteomyelitis, Neuropathic arthropathy, Painless fractures due to injury, Recurrent St... |
ORPHA:642 |
Aicardi-Goutières Syndrome |
|
Myositis, Multiple joint contractures, Chilblains, Autoimmunity, Arthritis, Panniculitis |
ORPHA:51 |
Tay-Sachs Disease |
|
Increased serum beta-hexosaminidase, Aspiration pneumonia, Hepatosplenomegaly |
ORPHA:845 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Camptodactyly of finger, Recurrent ear infections, Recurrent upper respiratory tract infections, ... |
ORPHA:217085 |
Atrial Septal Defect, Coronary Sinus Type |
|
Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Anomalous pulmonary venous return, R... |
ORPHA:99104 |
Cornelia De Lange Syndrome 1 |
|
Pneumonia, Thrombocytopenia, Otitis media |
OMIM:122470 |
Mucopolysaccharidosis Type 3 |
|
Recurrent sinopulmonary infections, Respiratory tract infection, Splenomegaly, Recurrent tonsilli... |
ORPHA:581 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Camptodactyly of finger, Recurrent ear infections, Recurrent upper respiratory tract infections, ... |
ORPHA:217093 |
Aneurysm-Osteoarthritis Syndrome |
|
Joint laxity, Osteoarthritis of the small joints of the hand, Protrusio acetabuli, Camptodactyly ... |
ORPHA:284984 |
Complex Regional Pain Syndrome |
|
Allodynia |
ORPHA:83452 |
Atrial Septal Defect, Ostium Secundum Type |
|
Orthopnea, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance, Dyspnea, ... |
ORPHA:99103 |
Pmm2-Cdg |
|
Pericarditis, Angina pectoris, Pericardial effusion, Reduced thyroxin-binding globulin, Delayed m... |
ORPHA:79318 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Superficial dermal perivascular inflammatory infiltrate, Severe B lymphocytopenia, Eczema, Seborr... |
ORPHA:83617 |
Stickler Syndrome |
|
Joint dislocation, Recurrent respiratory infections, Protrusio acetabuli, Osteoarthritis, Hip dis... |
ORPHA:828 |
Ulnar-Mammary Syndrome |
|
Deformed radius, Aplasia of the 3rd metacarpal, Aplasia of the 4th metacarpal, Aplasia of the 4th... |
OMIM:181450 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Splenomegaly, Seborrheic dermatitis, Thrombocytopenia, Aspiration pneumonia |
OMIM:301072 |
Heart Block, Congenital |
|
Atrioventricular block, Myocardial fibrosis, Myocardial calcification, Absent atrioventricular no... |
OMIM:234700 |
Hunter-Macdonald Syndrome |
|
Premature osteoarthritis, Camptodactyly, Cubitus valgus, Joint contracture of the hand, Delayed c... |
OMIM:611962 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Recurrent respiratory infections, Tracheobronchial leiomyomatosis, Keratitis, Dyspnea, Aspiration... |
ORPHA:1018 |
Bickerstaff Brainstem Encephalitis |
|
Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Respiratory tract inf... |
ORPHA:79138 |
22Q11.2 Deletion Syndrome |
|
Acne, Autoimmunity, Polyhydramnios, Seborrheic dermatitis, Multiple suture craniosynostosis, Arth... |
ORPHA:567 |
Fabry Disease |
|
Reduced bone mineral density, Arthritis, Lymphedema |
ORPHA:324 |
Trigeminal Neuralgia |
|
Allodynia |
ORPHA:221091 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Micrognathia, Small hand, Fibular hypoplasia, Hypoplasia of proximal radius, Tracheomalacia, Cerv... |
ORPHA:444077 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Neonatal sepsis, Pneumonia |
ORPHA:90790 |
Noonan Syndrome 1 |
|
Cubitus valgus, Chylothorax, Synovitis, Lymphedema |
OMIM:163950 |
Osteogenesis Imperfecta |
|
Osteopenia, Protrusio acetabuli, Recurrent fractures, Fractures of the long bones, Osteoarthritis... |
ORPHA:666 |
Lissencephaly Due To Lis1 Mutation |
|
Aspiration pneumonia |
ORPHA:95232 |
Primary Hyperoxaluria |
|
Generalized osteosclerosis, Recurrent fractures |
ORPHA:416 |
Hypermobile Ehlers-Danlos Syndrome |
|
Joint dislocation, Elbow dislocation, Osteoarthritis, Limitation of joint mobility, Hip dislocati... |
ORPHA:285 |
Geleophysic Dysplasia 3 |
|
Dyspnea, Respiratory failure, Pneumonia |
OMIM:617809 |
X-Linked Dystonia-Parkinsonism |
|
Aspiration pneumonia |
ORPHA:53351 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Abnormality of retinal pigmentation, Abnormal peripheral myelination, Atopic dermatitis, Abnormal... |
ORPHA:466768 |
Marshall-Smith Syndrome |
|
Apnea, Recurrent upper respiratory tract infections, Stridor, Aspiration pneumonia, Pulmonary art... |
OMIM:602535 |
Hellp Syndrome |
|
Cerebral hemorrhage, Increased body weight, Internal hemorrhage, Hypotension |
ORPHA:244242 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Aspiration pneumonia |
OMIM:619167 |
Mucopolysaccharidosis Type 2 |
|
Recurrent ear infections, Limitation of joint mobility, Recurrent upper respiratory tract infecti... |
ORPHA:580 |
Aspartylglucosaminuria |
|
Chronic otitis media, Arthritis, Recurrent respiratory infections, Joint stiffness |
ORPHA:93 |
Friedreich Ataxia 2 |
|
Abnormal EKG, Muscular subvalvular aortic stenosis, Concentric hypertrophic cardiomyopathy, Conge... |
OMIM:601992 |
Gaisböck Syndrome |
|
Cholecystitis, Gout |
ORPHA:90041 |
Neurotrophic Keratopathy |
|
Allodynia |
ORPHA:137596 |
Niemann-Pick Disease Type C |
|
Bone-marrow foam cells, Splenomegaly, Abnormal lung morphology, Respiratory insufficiency, Hepato... |
ORPHA:646 |
Gitelman Syndrome |
|
Pericardial effusion, Gout, Tubulointerstitial nephritis, Hashimoto thyroiditis, Chondrocalcinosis |
ORPHA:358 |
Cholera |
|
Tachypnea, Aspiration pneumonia, Hyperventilation |
ORPHA:173 |
Congenital Fiber-Type Disproportion Myopathy |
|
Recurrent respiratory infections, Hypercapnia, Respiratory insufficiency due to muscle weakness, ... |
ORPHA:2020 |
Combined Oxidative Phosphorylation Deficiency 25 |
|
Aspiration pneumonia |
OMIM:616430 |
Hutchinson-Gilford Progeria Syndrome |
|
Limitation of movement at ankles, Joint stiffness, Limited wrist movement, Osteoarthritis, Limita... |
ORPHA:740 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Recurrent urinary tract infections, Aspiration pneumonia |
ORPHA:99027 |
Carney Complex |
|
Neoplasm of the stomach, Testicular neoplasm, Hepatocellular carcinoma, Esophageal neoplasm, Cong... |
ORPHA:1359 |
Marfan Syndrome |
|
Genu recurvatum, Protrusio acetabuli, Flexion contracture, Premature osteoarthritis, Camptodactyl... |
OMIM:154700 |
Loeys-Dietz Syndrome 3 |
|
Joint laxity, Protrusio acetabuli, Craniosynostosis, Eosinophilic infiltration of the esophagus, ... |
OMIM:613795 |
Lacrimoauriculodentodigital Syndrome |
|
Arthritis, Keratoconjunctivitis sicca, Xerostomia, Keratoconjunctivitis |
ORPHA:2363 |
Renal Cysts And Diabetes Syndrome |
|
Gout |
OMIM:137920 |
Coffin-Siris Syndrome |
|
Recurrent upper respiratory tract infections, Aspiration pneumonia, Recurrent infections |
ORPHA:1465 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Pneumonia, Asthma, Otitis m... |
ORPHA:353281 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Hypoventilation, Apnea, Hypopnea, Restrictive ventilatory defect, Aspiration pneumonia |
OMIM:619482 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Pneumonia, Asthma, Otitis m... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Pneumonia, Asthma, Otitis m... |
ORPHA:353277 |
Orofaciodigital Syndrome Type 14 |
|
Ventricular septal defect, Retinal coloboma, Abnormal myelination |
ORPHA:434179 |
Choreoacanthocytosis |
|
Arthritis |
ORPHA:2388 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Hypoventilation, Apnea, Breathing dysregulation, Aspiration pneumonia, Anemia |
ORPHA:438213 |
Kabuki Syndrome 1 |
|
Hemolytic anemia, Autoimmune thrombocytopenia, Recurrent infections, Recurrent otitis media, Recu... |
OMIM:147920 |
Doors Syndrome |
|
Respiratory distress, Thrombocytosis, Aspiration pneumonia |
ORPHA:79500 |
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency |
|
Abnormal myelination |
ORPHA:67045 |
Alobar Holoprosencephaly |
|
Central apnea, Chronic lung disease, Abnormal pattern of respiration, Aspiration pneumonia |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Central apnea, Chronic lung disease, Abnormal pattern of respiration, Aspiration pneumonia |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Central apnea, Chronic lung disease, Abnormal pattern of respiration, Aspiration pneumonia |
ORPHA:93924 |
Semilobar Holoprosencephaly |
|
Central apnea, Chronic lung disease, Abnormal pattern of respiration, Aspiration pneumonia |
ORPHA:220386 |
Vascular Ehlers-Danlos Syndrome |
|
Joint dislocation, Congenital hip dislocation, Osteoarthritis, Osteolysis, Joint hyperflexibility... |
ORPHA:286 |
Yunis-Varon Syndrome |
|
Pulmonary arterial hypertension, Aspiration pneumonia |
OMIM:216340 |