| Glutathione Peroxidase Deficiency |
|
Compensated hemolytic anemia, Neonatal hyperbilirubinemia, Heinz bodies |
OMIM:614164 |
| Superior Transverse Scapular Ligament, Calcification Of, Familial |
|
Ectopic ossification in ligament tissue |
OMIM:601708 |
| Cystic Angiomatosis Of Bone, Diffuse |
|
Cystic angiomatosis of bone |
OMIM:123880 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin, Increased circulating ferritin concentration |
ORPHA:231249 |
| Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Fava bean-induced hemolytic anemia, Hyperbilirubinemia, Reduced erythrocyte glutathione reductase... |
OMIM:618660 |
| Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
| 12q14 microdeletion syndrome |
|
Osteopoikilosis |
DECIPHER:76 |
| Osteomesopyknosis |
|
Increased bone mineral density |
OMIM:166450 |
| Autoimmune Lymphoproliferative Syndrome |
|
Antineutrophil antibody positivity, Eosinophilia, Platelet antibody positive, Reduced delayed hyp... |
OMIM:601859 |
| Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level... |
OMIM:618534 |
| Pyknoachondrogenesis |
|
Increased bone mineral density |
OMIM:265880 |
| Lymphoma, Hodgkin, Classic |
|
Polyclonal elevation of IgM, Impaired lymphocyte transformation with phytohemagglutinin |
OMIM:236000 |
| Immunodeficiency 25 |
|
Recurrent pneumonia, Increased circulating IgE level, Complete or near-complete absence of specif... |
OMIM:610163 |
| Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Radial bowing, Sclerosis of middle finger phalanx, Broad long bones, Humerus varus, Fibular bowin... |
ORPHA:85188 |
| Immunodeficiency, Common Variable, 5 |
|
Antinuclear antibody positivity, Abnormal T cell count, Chronic decreased circulating total IgG, ... |
OMIM:613495 |
| Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Increased bone mineral density |
ORPHA:75325 |
| Hemoglobin-Delta locus |
|
Anemia, Imbalanced hemoglobin synthesis |
OMIM:142000 |
| Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Leukemia, Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM, Impaired lymphocy... |
OMIM:153600 |
| Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Delayed epiphyseal ossification, Elevated circulating parathyroid hormone level, Bulging epiphyse... |
OMIM:600785 |
| Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Decreased circulating IgG level, Decreased circulating IgA level, Autoimmunity, Recurrent aphthou... |
ORPHA:275 |
| Crigler-Najjar Syndrome Type 2 |
|
Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia |
ORPHA:79235 |
| Buschke-Ollendorff Syndrome |
|
Joint stiffness, Osteopoikilosis, Flexion contracture |
OMIM:166700 |
| Immunodeficiency 24 |
|
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... |
OMIM:615897 |
| Immunodeficiency 86 |
|
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level |
OMIM:619549 |
| Osteopoikilosis And Dacryocystitis |
|
Osteopoikilosis |
OMIM:166705 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Radial metaphyseal irregularity, Genu varum, Femoral bowing, Short long bone, Metaphyseal irregul... |
ORPHA:174 |
| Immunodeficiency With Hyper-Igm, Type 3 |
|
Decreased circulating IgG level, Impaired memory B cell generation, Decreased circulating IgA lev... |
OMIM:606843 |
| Immunoglobulin A Deficiency 2 |
|
Abnormal lymphocyte morphology, Decreased circulating IgA level, Autoimmunity |
OMIM:609529 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Antiphospholipid antibody positivity, Increased circulating IgA level, Autoimmune thrombocytopeni... |
OMIM:603909 |
| Hemoglobin D Disease |
|
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... |
ORPHA:90039 |
| Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Increased bone mineral density, Ectopic ossification |
OMIM:602475 |
| Weismann-Netter Syndrome |
|
Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Abnormal hip bone morphology, Abnorm... |
ORPHA:3344 |
| Dentin Dysplasia |
|
Increased bone mineral density |
ORPHA:1653 |
| Léri-Weill Dyschondrosteosis |
|
Short tibia, Radial bowing, Elbow dislocation, Abnormal tibia morphology, Genu valgum, Patellar a... |
ORPHA:240 |
| Diamond-Blackfan Anemia 19 |
|
Anemia, Erythroid hypoplasia, Steroid-responsive anemia |
OMIM:618312 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Decreased proportion of memory B cells, Anti-thyroglobulin antibody positivity, Anti-beta-2-Glyco... |
OMIM:618048 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Melorheostosis, Isolated |
|
Increased bone mineral density, Hyperostosis |
OMIM:155950 |
| Melorheostosis With Osteopoikilosis |
|
Osteopoikilosis, Abnormal cortical bone morphology |
ORPHA:1879 |
| Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Reduced erythrocyte adenosine triphosphate concentration, Stomatocytosis, Erythroid hyperplasia, ... |
OMIM:301083 |
| Osteomesopyknosis |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2777 |
| Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Hyperbilirubinemia, Reticulocytosis |
OMIM:179700 |
| Vitamin D-Dependent Rickets, Type 3 |
|
Osteopenia, Metaphyseal cupping, Elevated circulating parathyroid hormone level, Flared metaphysi... |
OMIM:619073 |
| Subcorneal Pustular Dermatosis |
|
Rheumatoid arthritis, Systemic lupus erythematosus, Autoimmunity, Increased circulating antibody ... |
ORPHA:48377 |
| Hyperbilirubinemia, Shunt, Primary |
|
Erythroid hyperplasia, Hyperbilirubinemia, Splenomegaly, Anemia of inadequate production, Reticul... |
OMIM:237800 |
| Immunodeficiency 105 |
|
Decreased circulating IgG level, Reduced natural killer cell count, Absence of lymph node germina... |
OMIM:619924 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Rhizomelia, Metaphyseal cupping, Radial bowing, Flared metaphysis, Small epiphyses, Femoral bowin... |
OMIM:602111 |
| Multiple Epiphyseal Dysplasia Type 4 |
|
Hypoplastic cervical vertebrae, Radial bowing, Limitation of joint mobility, Abnormal hand morpho... |
ORPHA:93307 |
| Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Increased circulating IgE level, Hepatosplenomegaly, Lymphadenopathy, Increased proportion of mem... |
OMIM:618982 |
| Diamond-Blackfan Anemia-Like |
|
Steroid-responsive anemia, Pure red cell aplasia |
OMIM:617911 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Decreased lymphocyte proliferation in response to mitogen, Increased circulating IgE level, Lymph... |
ORPHA:169154 |
| Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Fluctuating splenomegaly, Recurrent otitis media, Autoimmune hemolytic anemia, Neutropenia in pre... |
OMIM:619220 |
| Ulnar Hemimelia |
|
Abnormal upper limb bone morphology, Hypoplastic scapulae, Short forearm, Radial bowing, Abnormal... |
ORPHA:93320 |
| Ribbing Disease |
|
Diaphyseal sclerosis |
OMIM:601477 |
| Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Decreased specific pneumococcal antibody level, Decreased circulating IgG2 level, Splenomegaly, T... |
OMIM:615513 |
| Transient Erythroblastopenia Of Childhood |
|
Anemia, Transient erythroblastopenia |
OMIM:227050 |
| Immunodeficiency With Hyper-Igm, Type 2 |
|
Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen... |
OMIM:605258 |
| Immunodeficiency 89 And Autoimmunity |
|
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati... |
OMIM:619632 |
| Immune Deficiency, Familial Variable |
|
Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:146830 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Delayed epiphyseal ossification, Subperiosteal bone resorption, Elevated circulating parathyroid ... |
OMIM:264700 |
| B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ... |
OMIM:616452 |
| Pyoderma Gangrenosum |
|
Inflammation of the large intestine, Rheumatoid arthritis, Increased circulating antibody level, ... |
ORPHA:48104 |
| Osteosclerotic Metaphyseal Dysplasia |
|
Increased bone mineral density, Clavicular sclerosis |
OMIM:615198 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Enlargement of the wrists, Fibular b... |
OMIM:600081 |
| Acromesomelic Dysplasia 2C |
|
Shortening of all middle phalanges of the fingers, Hip dislocation, Short tibia, Radial bowing, S... |
OMIM:201250 |
| Leri-Weill Dyschondrosteosis |
|
Increased carrying angle, Abnormal femoral neck morphology, Short tibia, Radial bowing, Short toe... |
OMIM:127300 |
| Histiocytosis, Familial Lipochrome |
|
Histiocytosis, Polyarticular arthritis, Increased circulating antibody level |
OMIM:235900 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Flared metaphysis, Small epiphyses, Femoral bowing, Tibial bowing, Knee osteoarthritis, Flattened... |
ORPHA:93356 |
| Jaundice, Familial Obstructive, Of Infancy |
|
Neonatal hyperbilirubinemia |
OMIM:308600 |
| Hyperbilirubinemia, Conjugated, Type Iii |
|
Conjugated hyperbilirubinemia |
OMIM:237550 |
| Hyperbilirubinemia, Transient Familial Neonatal |
|
Neonatal unconjugated hyperbilirubinemia |
OMIM:237900 |
| Dacryocystitis-Osteopoikilosis Syndrome |
|
Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
| Ulnar Hypoplasia |
|
Radial bowing, Radial dysplasia, Hypoplasia of the ulna, Hypoplasia of the radius, Ulnar deviatio... |
OMIM:191440 |
| Hepatic Venoocclusive Disease With Immunodeficiency |
|
Decreased circulating IgG level, Abnormality of the liver, Absence of lymph node germinal center |
OMIM:235550 |
| Hypocalcemic Vitamin D-Resistant Rickets |
|
Hyperparathyroidism, Coarse metaphyseal trabecularization, Osteomalacia, Osteolysis, Abnormal hip... |
ORPHA:93160 |
| Immunodeficiency With Hyper-Igm, Type 5 |
|
Impaired Ig class switch recombination, Decreased circulating IgG level, Decreased circulating Ig... |
OMIM:608106 |
| Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Pneumonia, Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia, Increased circulating antibod... |
OMIM:247800 |
| Gamma-A-Globulin, Defect In Assembly Of |
|
Decreased circulating IgA level |
OMIM:137050 |
| Rh-Null, Amorph Type |
|
Stomatocytosis, Hyperbilirubinemia, Reticulocytosis, Anisocytosis, Hemolytic anemia |
OMIM:617970 |
| Immunodeficiency 18 |
|
Recurrent pneumonia, Reduced natural killer cell count, Recurrent otitis media, Lymphopenia, Abno... |
OMIM:615615 |
| Hypophosphatemic Rickets, X-Linked Dominant |
|
Shortening of the talar neck, Abnormal pelvic girdle bone morphology, Elevated circulating parath... |
OMIM:307800 |
| Immunodeficiency 52 |
|
Recurrent pneumonia, Increased proportion of gamma-delta T cells, Lymphopenia, Decreased circulat... |
OMIM:617514 |
| Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Decreased circulating IgG level, Inflammation of the large intestine, Osteopenia, Eczematoid derm... |
ORPHA:98813 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Delayed epiphyseal ossification, Subperiosteal bone resorption, Elevated circulating parathyroid ... |
OMIM:277440 |
| Immunodeficiency, Common Variable, 7 |
|
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Decreased circul... |
OMIM:614699 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad middle phalanx of finger, Short distal phalanx of finger, Metaphyseal cupping of metacarpal... |
OMIM:156500 |
| Hyperostosis Corticalis Generalisata |
|
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis |
ORPHA:3416 |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Craniosynostosis, Hypophosphatemic rickets, Rickets, Increased bone mineral density |
OMIM:241520 |
| Pa Polymorphism Of Alpha-2-Globulin |
|
Abnormal immunoglobulin level |
OMIM:260100 |
| Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
| Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Increased circulating IgE level, Hypereosinophilia, Abnormal B cell count, Abnormal proportion of... |
OMIM:212050 |
| Thymoma |
|
Rheumatoid arthritis, Aplastic anemia, Anti-acetylcholine receptor antibody positivity, Systemic ... |
ORPHA:99867 |
| Selective Igm Deficiency |
|
Allergic rhinitis, Rheumatoid arthritis, Lymphadenitis, Systemic lupus erythematosus, Decreased p... |
ORPHA:331235 |
| Osteosclerosis With Ichthyosis And Fractures |
|
Femoral bowing, Tibial bowing, Cortical thickening of long bone diaphyses, Increased bone mineral... |
OMIM:166740 |
| Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Delayed epiphyseal ossification, Metaphyseal irregularity, Rickets, Bulging epiphyses, Enlargemen... |
OMIM:241530 |
| Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
|
Decreased circulating IgG level, Cutaneous abscess, Increased circulating IgE level, Decreased pr... |
OMIM:618944 |
| Immunoerythromyeloid Hypoplasia |
|
Erythroid hypoplasia, Decreased circulating IgG level |
OMIM:242880 |
| Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Protein-losing enteropathy, Vomiting, Bloody diarrhea, Esophagitis, Pancolitis, Ileitis, Abnormal... |
OMIM:619079 |
| Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
| Immunodeficiency 95 |
|
Decreased circulating IgG3 level, Lymphopenia, Recurrent viral pneumonia, Increased circulating I... |
OMIM:619773 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Increased circulating iron concentration, Reduced red cell pyruvate kinase level, Increased circu... |
ORPHA:766 |
| Langer Mesomelic Dysplasia |
|
Increased carrying angle, Short tibia, Radial bowing, Rudimentary fibula, Rhizomelic arm shorteni... |
OMIM:249700 |
| Elliptocytosis 2 |
|
Neonatal hyperbilirubinemia, Hemolytic anemia, Reticulocytosis, Elliptocytosis |
OMIM:130600 |
| Ophthalmomandibulomelic Dysplasia |
|
Radioulnar dislocation, Lateral humeral condyle aplasia, Radial bowing, Elbow dislocation, Decrea... |
OMIM:164900 |
| Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Recurrent otitis media, Decreased CD4:CD8 ratio, Autoimmunity, Autoimmune hemolytic anemia, Splen... |
OMIM:618495 |
| Fibular Hemimelia |
|
Toe syndactyly, Limitation of joint mobility, Structural foot deformity, Finger syndactyly, Short... |
ORPHA:93323 |
| Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Radial bowing, Genu valgum, Metaphyseal dysplasia, Femoral bowing, Limited elbow extension, Knee ... |
OMIM:618019 |
| Van Buchem Disease |
|
Thickened cortex of long bones, Increased bone mineral density, Cranial hyperostosis |
OMIM:239100 |
| Immunodeficiency, Common Variable, 3 |
|
Abnormal T cell count, Chronic decreased circulating total IgG, Recurrent otitis media, Decreased... |
OMIM:613493 |
| Eiken Syndrome |
|
Abnormal fingertip morphology, Epiphyseal dysplasia, Delayed epiphyseal ossification, Limited elb... |
ORPHA:79106 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Decreased circulating IgG level, Inflammation of the large intestine, Recurrent pne... |
OMIM:619281 |
| Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Early satiety, Diarrhea, Increased circulating IgE level, Eosinophilic infiltration of the esopha... |
OMIM:147060 |
| Immunodeficiency, Common Variable, 2 |
|
Decreased circulating IgG level, Recurrent pneumonia, Abnormal T cell count, Impaired T cell func... |
OMIM:240500 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Abnormality of humoral immunity, Inflammatory abnormality of the skin, Recurrent pneumonia, Lack ... |
ORPHA:277 |
| Kyphomelic Dysplasia |
|
Limitation of joint mobility, Radial bowing, Micromelia, Flared metaphysis, Dumbbell-shaped humer... |
OMIM:211350 |
| Autosomal Recessive Kenny-Caffey Syndrome |
|
Small hand, Hypocalcemic tetany, Hypocalcemia, Decreased skull ossification, Stenosis of the medu... |
ORPHA:93324 |
| Immunodeficiency, Common Variable, 11 |
|
Increased circulating IgE level, Decreased circulating IgG level, Abnormal T cell count, Decrease... |
OMIM:615767 |
| Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Radial bowing, Micrognathia, Splenomegaly, Lower limb undergrowth, Tibial bowing, Bowing of the l... |
ORPHA:3035 |
| Osteopenia And Sparse Hair |
|
Osteopenia, Joint hypermobility |
OMIM:259690 |
| Mazabraud Syndrome |
|
Recurrent fractures, Fibrous dysplasia of the bones |
ORPHA:57782 |
| Dentin Dysplasia With Sclerotic Bones |
|
Cortical sclerosis |
OMIM:125440 |
| Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin |
|
Decreased circulating IgA level |
OMIM:235500 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Pancytopenia, Autoimmunity, Splenomegaly, Increased circulating antibody level, Lymphocytosis, Ne... |
OMIM:614470 |
| Agammaglobulinemia 4, Autosomal Recessive |
|
Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, Neutropenia... |
OMIM:613502 |
| Agammaglobulinemia 10, Autosomal Dominant |
|
Decreased circulating IgG level, Decreased circulating IgA level, Transient neutropenia, Agammagl... |
OMIM:619707 |
| Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes |
|
Decreased circulating IgG level, T lymphocytopenia |
OMIM:242870 |
| Autoimmune Polyendocrinopathy Type 4 |
|
Atrophic gastritis, Osteopenia, Non-caseating epithelioid cell granulomatosis, Rheumatoid arthrit... |
ORPHA:227990 |
| Weismann-Netter Syndrome |
|
Fibular bowing, Lateral femoral bowing, Calvarial hyperostosis, Squared iliac bones, Anterior tib... |
OMIM:112350 |
| Immunodeficiency 27A |
|
Pneumonia, Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Splenomegaly, Increased inflammatory... |
OMIM:209950 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4 |
|
Agammaglobulinemia, Abnormal B cell morphology, Decreased circulating antibody level |
OMIM:616911 |
| Acrocapitofemoral Dysplasia |
|
Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep... |
OMIM:607778 |
| Postaxial Oligodactyly, Tetramelic |
|
Postaxial foot polydactyly, Cone-shaped epiphysis, Radial bowing, Postaxial oligodactyly, Lunate-... |
OMIM:176240 |
| Macrophage Activation Syndrome |
|
Abnormal circulating interleukin concentration, Hepatitis, Abnormality of tumor necrosis factor s... |
ORPHA:158061 |
| Immunodeficiency, Common Variable, 1 |
|
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Abnormal T cell count, Impaired ... |
OMIM:607594 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Inflammation of the large intestine, Recurrent otitis media, Pancytopenia, Erythema nodosum, Auto... |
OMIM:614700 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Delayed epiphyseal ossification, Abnormal ilium morphology, Hypoplasia of the odontoid process, R... |
ORPHA:93314 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... |
OMIM:615559 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Delayed epiphyseal ossification, Hypochromic anemia, Osteomalacia, Hypophosphatemia, Genu varum, ... |
ORPHA:289157 |
| Transcobalamin Deficiency |
|
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Pancytopenia, Neut... |
ORPHA:859 |
| Trichodentoosseous Syndrome |
|
Increased bone mineral density |
OMIM:190320 |
| Bent Bone Dysplasia Syndrome 2 |
|
Osteopenia, Hypoplastic acetabulae, Short 1st metacarpal, Short tibia, Hypoplastic iliac wing, Fe... |
OMIM:620076 |
| Iga Pemphigus |
|
Cutaneous abscess, Neutrophilic infiltration of the skin, Pustule, Eosinophilia, Increased circul... |
ORPHA:555905 |
| Autoinflammation With Arthritis And Dyskeratosis |
|
Polyarticular arthritis, Hypereosinophilia, Autoimmune hemolytic anemia, Splenomegaly, Antinuclea... |
OMIM:617388 |
| Immunodeficiency 10 |
|
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... |
OMIM:612783 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Enlargement of the wri... |
OMIM:300554 |
| Autoimmune Polyendocrinopathy Type 3 |
|
Atrophic gastritis, Osteopenia, Non-caseating epithelioid cell granulomatosis, Rheumatoid arthrit... |
ORPHA:227982 |
| Metaphyseal Dysplasia, Spahr Type |
|
Metaphyseal sclerosis, Genu valgum, Bowing of the legs, Metaphyseal chondrodysplasia, Metaphyseal... |
OMIM:250400 |
| Mesomelic Limb Shortening And Bowing |
|
Camptodactyly of finger, Mesomelic leg shortening, Bowing of the arm, Micrognathia, Mesomelic arm... |
OMIM:249710 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231242 |
| Caspase 8 Deficiency |
|
Decreased circulating IgG level, Decreased circulating IgA level, Decreased CD4:CD8 ratio, Spleno... |
OMIM:607271 |
| Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy... |
OMIM:228930 |
| Diamond-Blackfan Anemia 17 |
|
Anemia |
OMIM:617409 |
| Oligoarticular Juvenile Idiopathic Arthritis |
|
Abnormal circulating interleukin concentration, Rheumatoid arthritis, Abnormality of the ankle, I... |
ORPHA:85410 |
| Caffey Disease |
|
Cortical irregularity, Periosteal thickening of long tubular bones, Tibial bowing, Joint hypermob... |
OMIM:114000 |
| Pgm3-Cdg |
|
Allergic rhinitis, Abnormal CD4:CD8 ratio, Increased circulating IgE level, Lymphopenia, Esophagi... |
ORPHA:443811 |
| Megaloblastic Anemia, Folate-Responsive |
|
Hypersegmentation of neutrophil nuclei, Increased circulating ferritin concentration, Folate-resp... |
OMIM:601775 |
| Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Micromelia, Metaphyseal spurs, Irregular epiphyses, Small epiphyses, Femoral bowing, Limited elbo... |
OMIM:608728 |
| Felty Syndrome |
|
Rheumatoid arthritis, Splenomegaly, Neutropenia |
OMIM:134750 |
| Neutropenia, Chronic Familial |
|
Periodontitis, Neutropenia, Increased circulating antibody level |
OMIM:162700 |
| Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Hypoplastic ilia, Rhizomelia, Metaphyseal cupping, Radial bowing, Severe limb shortening, Microme... |
OMIM:151210 |
| Mu-Heavy Chain Disease |
|
Abnormal B cell count, Splenomegaly, Increased circulating antibody level, Anemia, Osteoporosis, ... |
ORPHA:100024 |
| Immunodeficiency 62 |
|
Decreased circulating IgG level, Decreased proportion of memory B cells, Complete or near-complet... |
OMIM:618459 |
| Ritscher-Schinzel Syndrome 3 |
|
Short 1st metacarpal, Short first metatarsal, Epiphyseal stippling, Micrognathia, Cryptorchidism,... |
OMIM:619135 |
| Sting-Associated Vasculopathy, Infantile-Onset |
|
Pustular rash, Lymphopenia, Joint stiffness, Malar rash, Leukopenia, Skin rash, Thrombocytosis, C... |
OMIM:615934 |
| Spondylometaphyseal Dysplasia, Algerian Type |
|
Hypoplasia of proximal radius, Short tubular bones of the hand, Flared femoral metaphysis, Genu v... |
OMIM:184253 |
| Immunodeficiency 102 |
|
Decreased proportion of CD4-positive helper T cells, Recurrent skin infections, Autoimmune thromb... |
OMIM:301082 |
| Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Increased circulating IgA level, Glomerulonephritis, Thrombocytopenia |
OMIM:314000 |
| Blount Disease |
|
Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis... |
ORPHA:2768 |
| Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Rhizomelia, Broad thumb, Short 5th metacarpal, Femoral bowing, Short 4th metacarpal, Pes planus, ... |
OMIM:619638 |
| Hyperbilirubinemia, Rotor Type |
|
Conjugated hyperbilirubinemia |
OMIM:237450 |
| Hemoglobin H Disease |
|
Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin |
OMIM:613978 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Decreased specific pneumococcal antibody level, Minimal change glomerulonephritis, Autoimmunity, ... |
OMIM:617006 |
| Immunoglobulin A Deficiency 1 |
|
Decreased circulating IgA level, Autoimmunity |
OMIM:137100 |
| Al-Gazali Syndrome |
|
Osteopenia, Broad distal phalanx of finger, Micrognathia, Recurrent fractures, Bowed humerus, Wri... |
OMIM:609465 |
| Kimura Disease |
|
Increased circulating IgE level, Follicular hyperplasia, Eosinophilia, Lymphadenopathy, Abnormal ... |
ORPHA:482 |
| Immunodeficiency 57 With Autoinflammation |
|
Inflammation of the large intestine, Diarrhea, Reduced natural killer cell count, Skin rash, Peri... |
OMIM:618108 |
| Immunodeficiency 44 |
|
Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati... |
OMIM:616636 |
| Hypercholanemia, Familial, 2 |
|
Unconjugated hyperbilirubinemia, Increased serum bile acid concentration |
OMIM:619256 |
| Rhyns Syndrome |
|
Osteopenia, Radial bowing, Decreased response to growth hormone stimulation test, Brachydactyly, ... |
OMIM:602152 |
| Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Atrophic gastritis, Diarrhea, Eczematoid dermatitis, Lymphopenia, Psoriasiform dermatitis, Lympho... |
OMIM:616100 |
| Spherocytosis, Type 4 |
|
Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosis, Hemolytic anemia |
OMIM:612653 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Hip dislocation, Shallow acetabular fossae, Aplastic anemia, Radial bowing, Ulnar bowing, Limited... |
OMIM:605432 |
| Immunodeficiency, Common Variable, 4 |
|
Decreased circulating total IgM, Decreased circulating IgG level, Abnormal T cell count, Complete... |
OMIM:613494 |
| Metaphyseal Anadysplasia |
|
Aplasia/Hypoplasia of the radius, Abnormal epiphysis morphology, Abnormal ulnar metaphysis morpho... |
ORPHA:1040 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Incre... |
OMIM:603902 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 3 |
|
Decreased specific pneumococcal antibody level, Partial absence of specific antibody response to ... |
OMIM:620430 |
| Gamma-Heavy Chain Disease |
|
Rheumatoid arthritis, Abnormal lymphocyte morphology, Autoimmunity, Skin rash, Autoimmune hemolyt... |
ORPHA:100026 |
| Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag |
|
Monoclonal immunoglobulin M proteinemia |
ORPHA:639 |
| Immunodeficiency 112 |
|
Decreased circulating IgG level, Reduced natural killer cell count, Chronic mucocutaneous candidi... |
OMIM:620449 |
| Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Generalized osteosclerosis, Abnormal cortical bone morphology, Clavicu... |
ORPHA:2790 |
| Spherocytosis, Type 2 |
|
Hyperbilirubinemia, Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Hemolytic anemia |
OMIM:616649 |
| Agammaglobulinemia 2, Autosomal Recessive |
|
Decreased circulating IgA level, Agammaglobulinemia, Absent circulating B cells, Abnormal T cell ... |
OMIM:613500 |
| Dubin-Johnson Syndrome |
|
Conjugated hyperbilirubinemia |
OMIM:237500 |
| Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Craniosynostosis, Increased bone mineral density |
ORPHA:178377 |
| Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Reduced delayed hy... |
OMIM:617241 |
| Immunodeficiency 43 |
|
Hypoalbuminemia, Decreased circulating IgG level, Reduced natural killer cell count, Decreased sp... |
OMIM:241600 |
| Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
| Diffuse Gastric And Lobular Breast Cancer Syndrome |
|
Atrophic gastritis, Stomach cancer, Cleft palate |
OMIM:137215 |
| Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Atrophic gastritis, Pneumonia, Inflammation of the large intestine, Atopic dermatitis, Diarrhea, ... |
ORPHA:436159 |
| Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Delayed epiphyseal ossification, Small hand, Elevated circulating parathyroid hormone level, Hype... |
OMIM:618618 |
| Rh-Null, Regulator Type |
|
Unconjugated hyperbilirubinemia, Stomatocytosis, Hemolytic anemia |
OMIM:268150 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Hyperbili... |
OMIM:616689 |
| Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Allergic rhinitis, Rheumatoid arthritis, Systemic lupus erythematosus, Recurrent otitis media, Ps... |
ORPHA:183675 |
| Secondary Non-Traumatic Avascular Necrosis |
|
Rheumatoid arthritis, Limitation of joint mobility, Autoimmunity, Systemic lupus erythematosus |
ORPHA:399180 |
| Autoimmune Lymphoproliferative Syndrome |
|
Systemic lupus erythematosus, Increased circulating IgE level, Lymphopenia, Hypersplenism, Decrea... |
ORPHA:3261 |
| Osteogenesis Imperfecta, Type Xiv |
|
Osteopenia, Recurrent fractures, Femoral bowing, Increased susceptibility to fractures |
OMIM:615066 |
| Persistent Polyclonal B-Cell Lymphocytosis |
|
Decreased circulating total IgM, Lymphocytosis, Splenomegaly |
OMIM:606445 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Radial bowing, Micromelia, Preaxial polydactyly, Micrognathia, Ulnar bowing, Decreased calvarial ... |
OMIM:617866 |
| Osseous Heteroplasia, Progressive |
|
Ankylosis, Limb undergrowth, Ectopic ossification in muscle tissue |
OMIM:166350 |
| Severe Combined Immunodeficiency, X-Linked |
|
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Failure to thrive, Decreased cir... |
OMIM:300400 |
| Body Mass Index Quantitative Trait Locus 20 |
|
Increased bone mineral density |
OMIM:618406 |
| Ophthalmomandibulomelic Dysplasia |
|
Mesomelia, Radioulnar dislocation, Aplasia/Hypoplasia of the radius, Synostosis of carpal bones, ... |
ORPHA:2741 |
| Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome |
|
Ectrodactyly, Radial club hand, Abnormality of the wrist, Asymmetric radial dysplasia, Ulnar bowi... |
ORPHA:2878 |
| Immunodeficiency 85 And Autoimmunity |
|
Decreased proportion of memory B cells, Reduced natural killer cell count, Decreased circulating ... |
OMIM:619510 |
| Immunodeficiency, Common Variable, 14 |
|
Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve... |
OMIM:617765 |
| Leri-Weill dyschondrostosis (LWD) - SHOX deletion |
|
Limited pronation/supination of forearm, Radial bowing, Madelung deformity |
DECIPHER:58 |
| Combined Immunodeficiency, X-Linked |
|
Pneumonia, Decreased circulating IgG level, Abnormal T cell count, Decreased proportion of CD8-po... |
OMIM:312863 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Ivory epiphyses, Hypoplastic scapulae, Radial bowing, Hypoplastic iliac wing, Type II diabetes me... |
OMIM:210720 |
| Paget Disease Of Bone 2, Early-Onset |
|
Fractures of the long bones, Sclerosis of skull base, Femoral bowing, Increased susceptibility to... |
OMIM:602080 |
| Solitary Bone Cyst |
|
Abnormal ilium morphology, Abnormal tibia morphology, Lytic defects of the radius, Pathologic fra... |
ORPHA:83468 |
| Atelosteogenesis, Type Iii |
|
Rhizomelia, Tombstone-shaped proximal phalanges, Radial bowing, Sandal gap, Knee dislocation, Elb... |
OMIM:108721 |
| Chilblain Lupus |
|
Discoid lupus rash, Inflammatory abnormality of the skin, Systemic lupus erythematosus, Chronic m... |
ORPHA:90280 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Pneumonia, Diarrhea, Failure to thrive, Failure to thrive secondary to recurrent infections, Panh... |
OMIM:601457 |
| Immunodeficiency 70 |
|
Decreased circulating total IgG, Celiac disease, Plantar warts, Decreased proportion of CD4-posit... |
OMIM:618969 |
| Sclerosteosis |
|
Craniofacial hyperostosis, Abnormal cortical bone morphology, Increased bone mineral density |
ORPHA:3152 |
| Severe Hemophilia A |
|
Epistaxis, Gastrointestinal hemorrhage, Limitation of joint mobility, Subdural hemorrhage, Prolon... |
ORPHA:169802 |
| Otospondylomegaepiphyseal Dysplasia |
|
Epiphyseal dysplasia, Dumbbell-shaped femur, Sandal gap, Limitation of joint mobility, Flared fem... |
ORPHA:1427 |
| Albers-Schönberg Osteopetrosis |
|
Short distal phalanx of finger, Mandibular osteomyelitis, Abnormal epiphysis morphology, Osteomye... |
ORPHA:53 |
| Achondroplasia |
|
Rhizomelia, Radial bowing, Flared metaphysis, Femoral bowing, Trident hand, Limited elbow extensi... |
OMIM:100800 |
| Pseudoachondroplasia |
|
Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Genu valgum, Wind-swept defo... |
ORPHA:750 |
| Crigler-Najjar Syndrome, Type Ii |
|
Unconjugated hyperbilirubinemia |
OMIM:606785 |
| Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Decreased circulating total IgM, Decreased circulating IgG level, Abnormally low T cell receptor ... |
OMIM:618987 |
| Immunodeficiency 50 |
|
Lymphopenia, Decreased circulating antibody level, Eczematoid dermatitis, Neutropenia |
OMIM:300988 |
| Congenital Radioulnar Synostosis |
|
Congenital hip dislocation, Abnormality of the musculature of the upper arm, Abnormal morphology ... |
ORPHA:3269 |
| Osteochondrosis Of The Metatarsal Bone |
|
Joint stiffness, Thickened cortex of bones, Arthritis, Sclerosis of foot bone |
ORPHA:564003 |
| Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy |
|
Monoclonal immunoglobulin M proteinemia, Cryoglobulinemia |
ORPHA:209004 |
| Mixed Connective Tissue Disease |
|
Gastrointestinal hemorrhage, Gastroesophageal reflux, Xerostomia, Mediastinal lymphadenopathy, Jo... |
ORPHA:809 |
| Immunodeficiency 60 And Autoimmunity |
|
Decreased circulating IgG level, Decreased proportion of memory B cells, Bronchiectasis, Decrease... |
OMIM:618394 |
| Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult |
|
Foot acroosteolysis, Gastric hypertrophy, Metacarpal periosteal thickening, Periosteal thickening... |
OMIM:161700 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia, Lymphopenia, Death in childhood, Hypoplasia of the thymus |
OMIM:200900 |
| Agammaglobulinemia 6, Autosomal Recessive |
|
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... |
OMIM:612692 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Enteroviral encephalitis, Increased circulating IgA level, Neutropenia, Stomatitis, Impaired Ig c... |
OMIM:308230 |
| Osteogenesis Imperfecta, Type Xvii |
|
Thin metacarpal cortices, Recurrent fractures, Joint hypermobility, Bowed humerus, Osteoporosis, ... |
OMIM:616507 |
| X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia |
|
Anemia, Intrauterine growth retardation |
ORPHA:2802 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| Immunodeficiency 46 |
|
Sepsis, Conjunctivitis, Failure to thrive, Chronic diarrhea, Recurrent sinopulmonary infections, ... |
OMIM:616740 |
| Melorheostosis |
|
Joint stiffness, Ectopic ossification in muscle tissue, Hyperostosis, Arthritis, Increased bone m... |
ORPHA:2485 |
| Osteopetrosis, Autosomal Recessive 6 |
|
Osteopetrosis |
OMIM:611497 |
| Cernunnos-Xlf Deficiency |
|
Lymphopenia, Autoimmunity, T lymphocytopenia, Thrombocytopenia, B lymphocytopenia, Anemia, Decrea... |
ORPHA:169079 |
| Cholestasis, Progressive Familial Intrahepatic, 11 |
|
Abnormal circulating bilirubin concentration, Increased serum bile acid concentration |
OMIM:619874 |
| Acute Erythroid Leukemia |
|
Bone marrow hypocellularity, Monoclonal immunoglobulin M proteinemia, Pancytopenia, Leukopenia, E... |
ORPHA:318 |
| Pachydermoperiostosis |
|
Small hand, Limitation of joint mobility, Elevated circulating growth hormone concentration, Genu... |
ORPHA:2796 |
| Dent Disease 1 |
|
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Enlargement of the wri... |
OMIM:300009 |
| Combined Cellular And Humoral Immune Defects With Granulomas |
|
Decreased circulating IgG level, T lymphocytopenia, B lymphocytopenia |
OMIM:233650 |
| Boomerang Dysplasia |
|
Finger syndactyly, Micromelia, Decreased response to growth hormone stimulation test, Abnormal ti... |
ORPHA:1263 |
| Systemic-Onset Juvenile Idiopathic Arthritis |
|
Autoimmunity, Skin rash, Joint swelling, Splenomegaly, Arthritis, Juvenile rheumatoid arthritis, ... |
ORPHA:85414 |
| Ménétrier Disease |
|
Gastrointestinal hemorrhage, Gastroesophageal reflux, Diarrhea, Vomiting, Stomach cancer, Abnorma... |
ORPHA:2494 |
| Blount Disease, Adolescent |
|
Genu varum, Bowing of the legs |
OMIM:259200 |
| Flynn-Aird Syndrome |
|
Osteoporosis, Joint stiffness, Increased bone density with cystic changes, Increased bone mineral... |
OMIM:136300 |
| Hypogonadotropic Hypogonadism 19 With Or Without Anosmia |
|
Osteoporosis, Osteopenia |
OMIM:615269 |
| Agammaglobulinemia 8B, Autosomal Recessive |
|
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... |
OMIM:619824 |
| Malaria |
|
Elevated circulating C-reactive protein concentration, Anemia, Hyperbilirubinemia, Thrombocytopenia |
ORPHA:673 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Abnor... |
ORPHA:331206 |
| Insulin Autoimmune Syndrome |
|
Systemic lupus erythematosus, Autoimmunity, Increased circulating antibody level, Arthralgia/arth... |
ORPHA:411593 |
| Atelosteogenesis, Type I |
|
Radial bowing, Elbow dislocation, Fibular aplasia, Micrognathia, Cryptorchidism, Neonatal death, ... |
OMIM:108720 |
| Immunodeficiency 36 With Lymphoproliferation |
|
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Autoimmunity, Sple... |
OMIM:616005 |
| Autosomal Agammaglobulinemia |
|
Diarrhea, Epicanthus, Neutropenia, Meningitis, High palate, Recurrent skin infections, Chronic ot... |
ORPHA:33110 |
| Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly |
|
Fragmentation of the metacarpal epiphyses, Abnormality of the ankle, Arthralgia of the hip, Abnor... |
ORPHA:166002 |
| Acromesomelic Dysplasia 4 |
|
Rhizomelia, Radial bowing, Short toe, Short finger, Sandal gap, Broad finger, Prominent deltoid t... |
OMIM:619636 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the tibia, Limitation of joint mobility, Finger syndactyly, Ectrodactyly, P... |
ORPHA:3329 |
| Immunodeficiency 97 With Autoinflammation |
|
Diarrhea, Hemophagocytosis, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosple... |
OMIM:619802 |
| Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Atrophic gastritis, Recurrent pneumonia, Autoimmune hemolytic anemia, Recurrent sinusitis, Thromb... |
OMIM:616576 |
| Shox-Related Short Stature |
|
Genu valgum, Micrognathia, Ulnar radial head dislocation, Tibial bowing, Lower limb undergrowth, ... |
ORPHA:314795 |
| Isolated Osteopoikilosis |
|
Sclerotic foci within carpal bones, Tarsal sclerosis, Limitation of joint mobility, Abnormal pelv... |
ORPHA:166119 |
| Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Increased circulating IgE level, Recurrent otitis media, Micrognathia, Sterile abscess, High pala... |
OMIM:618282 |
| Kniest Dysplasia |
|
Delayed epiphyseal ossification, Rhizomelia, Dumbbell-shaped femur, Limitation of joint mobility,... |
OMIM:156550 |
| Spondyloenchondrodysplasia With Immune Dysregulation |
|
Pneumonia, Rheumatoid arthritis, Systemic lupus erythematosus, Recurrent otitis media, Lymphopeni... |
OMIM:607944 |
| Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections |
|
Atopic dermatitis, Increased circulating IgE level, Eosinophilic infiltration of the esophagus, E... |
OMIM:620532 |
| Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis |
|
Osteopenia, Abnormal circulating interleukin concentration, Abnormal epiphysis morphology, Premat... |
ORPHA:85435 |
| Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Decreased circulating total IgM, Neutropenia |
OMIM:610798 |
| Pseudohypoparathyroidism, Type Ic |
|
Elevated circulating parathyroid hormone level, Elevated circulating thyroid-stimulating hormone ... |
OMIM:612462 |
| Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased specific anti-polysaccharide antibody level, Recurrent otitis media, Decreased CD4:CD8 ... |
OMIM:300853 |
| Complement Component C1R/C1S Deficiency |
|
Discoid lupus rash, Nephritis, Reduced circulating complement concentration, Autoimmunity, Arthritis |
OMIM:216950 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Fibular aplasia, Hepatosplenome... |
OMIM:274000 |
| Immunodeficiency 114, Folate-Responsive |
|
Decreased circulating IgG level, Increased circulating IgE level, Lymphopenia, Splenomegaly, Dela... |
OMIM:620603 |
| Majeed Syndrome |
|
Inflammatory abnormality of the skin, Failure to thrive, Delayed skeletal maturation, Microcytic ... |
OMIM:609628 |
| Mesomelic Dysplasia, Savarirayan Type |
|
Short forearm, Short tibia, Abnormal foot morphology, Talipes equinovalgus, Supernumerary nipple,... |
OMIM:605274 |
| Nk-Cell Enteropathy |
|
Hematochezia, Colonic diverticula, Diarrhea, Gastroesophageal reflux, Stercoral ulcer, Abnormal g... |
ORPHA:263665 |
| Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To |
|
Hyperbilirubinemia, Hemolytic anemia, Reticulocytosis |
OMIM:266120 |
| Farber Lipogranulomatosis |
|
Osteolysis involving bones of the feet, Failure to thrive, Cherry red spot of the macula, Splenom... |
OMIM:228000 |
| Crigler-Najjar Syndrome, Type I |
|
Unconjugated hyperbilirubinemia |
OMIM:218800 |
| Dyggve-Melchior-Clausen Disease |
|
Hypoplastic scapulae, Hypoplasia of the odontoid process, Limitation of joint mobility, Hypoplast... |
OMIM:223800 |
| Immunodeficiency 11B With Atopic Dermatitis |
|
Increased circulating IgE level, Eosinophilia, Decreased circulating total IgM |
OMIM:617638 |
| Pseudohypoparathyroidism Type 1B |
|
Pituitary resistance to thyroid hormone, Elevated circulating parathyroid hormone level, Hyperpho... |
ORPHA:94089 |
| Solitary Rectal Ulcer Syndrome |
|
Hematochezia, Tenesmus, Stercoral ulcer, Anal fissure, Chronic constipation, Rectal prolapse, Dec... |
ORPHA:209964 |
| Overlap Myositis |
|
Rheumatoid arthritis, Systemic lupus erythematosus, Subluxation of the small joints of the hand, ... |
ORPHA:206572 |
| Osteopetrosis, Autosomal Dominant 1 |
|
Thickened cortex of long bones, Generalized osteosclerosis, Osteopetrosis, Calvarial osteoscleros... |
OMIM:607634 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
| Osteogenesis Imperfecta, Type Viii |
|
Osteopenia, Slender long bone, Radial bowing, Femoral bowing, Recurrent fractures, Tibial bowing,... |
OMIM:610915 |
| Upper Limb Mesomelic Dysplasia |
|
Radial bowing, Ulnar deviation of finger, Hypoplasia of the ulna |
ORPHA:2497 |
| Bruck Syndrome 2 |
|
Osteopenia, Elbow flexion contracture, Femoral bowing, Increased susceptibility to fractures, Kne... |
OMIM:609220 |
| Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Nonspherocytic hemolytic an... |
OMIM:235700 |
| Activated Pi3K-Delta Syndrome |
|
Pneumonia, Recurrent otitis media, Autoimmunity, Decreased circulating antibody level, Splenomega... |
ORPHA:397596 |
| Osteoporosis |
|
Osteoporosis |
OMIM:166710 |
| Mesomelic Dysplasia, Kantaputra Type |
|
Tarsal synostosis, Radial bowing, Mesomelia, Carpal synostosis |
OMIM:156232 |
| Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Lambdoidal craniosynostosis, Coronal craniosynostosis, Narrow pelvis bone, Femoral bowing, Humero... |
OMIM:207410 |
| Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Rhizomelia, Hypoplastic scapulae, Micromelia, Femoral bowing, Micrognathia, Dumbbell-shaped long ... |
ORPHA:440354 |
| Immunodeficiency 67 |
|
Abnormal T cell count, Increased circulating IgE level, Transient neutropenia, Abnormal B cell co... |
OMIM:607676 |
| Kenny-Caffey Syndrome, Type 1 |
|
Small hand, Slender long bone, Hypomagnesemia, Hypocalcemia, Decreased skull ossification, Congen... |
OMIM:244460 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Diarrhea, Decreased circulating total IgG, Pustular rash, Anoperineal fistula, Osteomalacia, Recu... |
OMIM:619381 |
| Immunodeficiency 109 With Lymphoproliferation |
|
Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Decreased lympho... |
OMIM:620282 |
| Oncogenic Osteomalacia |
|
Abnormal foot morphology, Pathologic fracture, Abnormality of the tarsal bones, Abnormal femur mo... |
ORPHA:352540 |
| Axial Osteomalacia |
|
Increased bone mineral density, Osteomalacia |
OMIM:109130 |
| Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Leukocytosis, Skin rash, Joint swelling, Increased proportion of CD4-positive T cells, Increased ... |
OMIM:617099 |
| Monocyte Chemotactic Disorder |
|
Cutaneous anergy, Chronic mucocutaneous candidiasis |
OMIM:252250 |
| Igg4-Related Aortitis |
|
Increased circulating IgE level, Reduced circulating complement concentration, Increased circulat... |
ORPHA:449400 |
| Mueller-Weiss Syndrome |
|
Sclerosis of foot bone, Joint stiffness, Limitation of movement at ankles, Knee osteoarthritis, A... |
ORPHA:566943 |
| Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2204 |
| Immunodeficiency 53 |
|
Recurrent pneumonia, Recurrent otitis media, Skin rash, Impaired lymphocyte transformation with p... |
OMIM:617585 |
| Spherocytosis, Type 1 |
|
Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosis, Hemolytic anemia |
OMIM:182900 |
| Osteochondritis Dissecans |
|
Limitation of joint mobility, Limited elbow flexion, Abnormal tibia morphology, Abnormal joint mo... |
ORPHA:2764 |
| Pacman Dysplasia |
|
Bowing of the long bones, Epiphyseal stippling |
OMIM:167220 |
| Spondyloepimetaphyseal Dysplasia, Di Rocco Type |
|
Irregular acetabular roof, Metaphyseal dysplasia, Reduced bone mineral density, Genu varum, Delay... |
OMIM:617974 |
| Osteogenesis Imperfecta, Type Ii |
|
Abnormal pelvic girdle bone morphology, Broad long bones, Tibial bowing, Limb undergrowth, Absent... |
OMIM:166210 |
| Humerofemoral Hypoplasia With Radiotibial Ray Deficiency |
|
Hypoplastic scapulae, Absent thumb, Elbow flexion contracture, Hypoplastic pelvis, Short clavicle... |
OMIM:618022 |
| Chondroectodermal Dysplasia With Night Blindness |
|
Epiphyseal dysplasia, Osteopenia, Fractures of the long bones, Equinovarus deformity, Talipes cal... |
ORPHA:319195 |
| X-Linked Agammaglobulinemia |
|
Weight loss, Neutropenia, Meningitis, Recurrent cutaneous abscess formation, Chronic otitis media... |
ORPHA:47 |
| Polyposis of gastric fundus without polyposis coli |
|
Multiple gastric polyps, Abnormal gastric mucosa morphology |
OMIM:175505 |
| Myasthenia Gravis |
|
Rheumatoid arthritis, Hepatitis, Anti-acetylcholine receptor antibody positivity, Systemic lupus ... |
ORPHA:589 |
| Anemia, Sideroblastic, 4 |
|
Sideroblastic anemia, Abnormal erythrocyte morphology |
OMIM:182170 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Pneumonia, Decreased circulating IgG level, Pneumocystis jirovecii pneumonia, Diarrhea, Recurrent... |
OMIM:614069 |
| Hemoglobin E Disease |
|
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... |
ORPHA:2133 |
| Dyschondrosteosis-Nephritis Syndrome |
|
Aplasia/Hypoplasia of the radius, Radial bowing, Micromelia, Ulnar bowing, Madelung deformity |
ORPHA:1765 |
| Tibial Torsion, Bilateral Medial |
|
Bowing of the legs, Tibial torsion |
OMIM:188800 |
| Wilson Disease |
|
Hepatitis, Kayser-Fleischer ring, Failure to thrive, Pathologic fracture, Acute hepatitis, Acute ... |
ORPHA:905 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin |
ORPHA:231393 |
| Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hyperbilirubinemia, Conjugated hyperbilirubinemia, Splenomegaly, Increased serum bile acid concen... |
OMIM:620010 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Abnormal pelvic girdle bone morphology, Abnormal tibia morphology, Abn... |
ORPHA:1802 |
| Rotor Syndrome |
|
Hyperbilirubinemia, Conjugated hyperbilirubinemia |
ORPHA:3111 |
| T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Diarrhea, Protracted diarrhea, Lymphopenia, Hepatosplenomegaly, Increased circulating antibody le... |
ORPHA:169160 |
| Reticular Dysgenesis |
|
Impaired T cell function, Lack of T cell function, Lymphopenia, Congenital agranulocytosis, Leuko... |
OMIM:267500 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Decreased circulating IgG level, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancyt... |
OMIM:308240 |
| Otopalatodigital Syndrome, Type I |
|
Toe syndactyly, Synostosis of carpal bones, Absent frontal sinuses, Short hallux, Dislocated radi... |
OMIM:311300 |
| Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Short 3rd metacarpal, Short tibia, Micromelia, Epiphyseal stippling, Short 4th metacarpal, Limb u... |
OMIM:118651 |
| Calvarial Doughnut Lesions With Bone Fragility |
|
Osteoporosis, Osteopenia, Femoral bowing, Recurrent fractures |
OMIM:126550 |
| Interstitial Granulomatous Dermatitis With Arthritis |
|
Inflammatory abnormality of the skin, Rheumatoid arthritis, Rheumatoid factor positive |
ORPHA:79099 |
| Osteogenesis Imperfecta, Type Xiii |
|
Wide distal femoral metaphysis, Femoral bowing, Wide pubic symphysis, Recurrent fractures, Joint ... |
OMIM:614856 |
| Agammaglobulinemia 5, Autosomal Dominant |
|
Agammaglobulinemia |
OMIM:613506 |
| Lymphoproliferative Syndrome 3 |
|
Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci... |
OMIM:618261 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Arrhythmia, Weight loss, Elevated jugular venous pressure, Abdominal pain, Hypogonadotropic hypog... |
ORPHA:465508 |
| Progressive Pseudorheumatoid Dysplasia |
|
Joint contracture of the hand, Abnormal foot morphology, Camptodactyly of finger, Joint stiffness... |
OMIM:208230 |
| Metaphyseal Chondrodysplasia, Spahr Type |
|
Abnormal epiphysis morphology, Reduced bone mineral density, Bowing of the long bones, Metaphysea... |
ORPHA:2501 |
| Progressive Pseudorheumatoid Arthropathy Of Childhood |
|
Abnormal ilium morphology, Joint contracture of the hand, Limitation of joint mobility, Genu valg... |
ORPHA:1159 |
| Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Overlapping toe, Genu valgum, Carpal bone hypoplasia, Pes planus, Abnormality of the knee, Tibial... |
ORPHA:457395 |
| Angioosteohypotrophic Syndrome |
|
Abnormal trabecular bone morphology, Upper limb undergrowth, Abnormal foot morphology, Aplasia/hy... |
ORPHA:75508 |
| Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Decreased circulating antibody... |
OMIM:619846 |
| Osteogenesis Imperfecta, Type Xviii |
|
Femoral bowing, Micrognathia, Joint hypermobility, Bowing of the long bones, Thin bony cortex, Ge... |
OMIM:617952 |
| Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Allergic rhinitis, Atopic dermatitis, Recurrent pneumonia, Reduced natural killer cell count, Ecz... |
OMIM:243700 |
| Sjogren Syndrome |
|
Rheumatoid arthritis, Xerostomia, Autoimmunity, Keratoconjunctivitis sicca, Tubulointerstitial ne... |
OMIM:270150 |
| Pseudohypoparathyroidism, Type Ib |
|
Hyperphosphatemia, Elevated circulating parathyroid hormone level, Hypocalcemia, Pseudohypoparath... |
OMIM:603233 |
| Asthma, Short Stature, And Elevated Iga |
|
Increased circulating IgA level |
OMIM:208600 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Inflammatory abnormality of the skin, Psoriasiform dermatitis, Abnormal intestine morphology, Cru... |
ORPHA:37042 |
| Cap Polyposis |
|
Atrophic gastritis, Hematochezia, Diarrhea, Constipation, Colorectal polyposis |
ORPHA:160148 |
| Immunodeficiency 92 |
|
Pneumonia, Decreased circulating IgG level, Partial absence of specific antibody response to teta... |
OMIM:619652 |
| Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Recurrent pneumonia, Eczematoid dermatitis, Hypersegmentation of neutrophil nuclei, Lymphopenia, ... |
OMIM:617780 |
| Gnathodiaphyseal Dysplasia |
|
Osteopenia, Recurrent fractures, Mandibular osteomyelitis, Thickened cortex of long bones |
ORPHA:53697 |
| Rheumatoid Arthritis |
|
Rheumatoid arthritis, Polyarticular arthritis, Anti-citrullinated protein antibody positivity, Jo... |
OMIM:180300 |
| Panner Disease |
|
Limited elbow extension, Joint swelling, Abnormality of upper limb joint, Limited elbow movement,... |
ORPHA:97336 |
| Lymphoproliferative Syndrome, X-Linked, 2 |
|
Inflammation of the large intestine, Folliculitis, Aplastic anemia, Hemophagocytosis, Hepatitis, ... |
OMIM:300635 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Increased circulating antib... |
OMIM:202700 |
| Multiple Epiphyseal Dysplasia, Beighton Type |
|
Limitation of joint mobility, Genu valgum, Reduced proximal interphalangeal joint space, Pedal ed... |
ORPHA:166011 |
| Autosomal Dominant Hypophosphatemic Rickets |
|
Rickets, Osteomalacia, Hypocalcemia, Tooth abscess, Iron deficiency anemia, Hypophosphatemia, Bow... |
ORPHA:89937 |
| Anauxetic Dysplasia 3 |
|
Broad middle phalanx of finger, Metaphyseal cupping, Short middle phalanx of finger, Genu valgum,... |
OMIM:618853 |
| Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Cutaneous anergy, Pancytopenia, Hypersplenism, Splenomegaly, Decreased helper T cell proportion |
OMIM:183350 |
| Grant Syndrome |
|
Micrognathia, Tibial bowing, Down-sloping shoulders |
OMIM:138930 |
| Osteogenesis Imperfecta, Type Iii |
|
Slender long bone, Micrognathia, Recurrent fractures, Bowing of limbs due to multiple fractures, ... |
OMIM:259420 |
| Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Decreased circulating IgG level, Reduced natural killer cell count, Recurrent pneumonia, Atopic d... |
OMIM:619752 |
| Acromesomelic Dysplasia 1 |
|
Acromesomelia, Radial bowing, Short toe, Flared metaphysis, Long hallux, Cone-shaped epiphyses of... |
OMIM:602875 |
| Symbrachydactyly Of Hands And Feet |
|
Aplasia/Hypoplasia of the radius, Abnormality of the humeroulnar joint, Abnormal morphology of ul... |
ORPHA:1570 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Diarrhea, Lymphopenia, Decreased proportion of CD4-positive helper T cells, Abnormal immunoglobul... |
ORPHA:276 |
| Spondyloepiphyseal Dysplasia Tarda |
|
Enlarged metaphyses, Hypoplasia of the odontoid process, Finger swelling, Limitation of joint mob... |
ORPHA:93284 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Recurrent viral infections, Decreased lymphocyte proliferation in response to anti-CD3, Increased... |
OMIM:606367 |
| Hyperparathyroidism, Transient Neonatal |
|
Hyperparathyroidism, Fractured rib, Osteopenia, Metaphyseal spurs, Femoral bowing, Splenic cyst, ... |
OMIM:618188 |
| Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Osteopenia, Proximal femoral epiphysiolysis, Small epiphyses, Overlapping toe, Femoral bowing, Li... |
OMIM:616723 |
| Van Den Ende-Gupta Syndrome |
|
Hypoplastic scapulae, Long metacarpals, Joint contracture of the hand, Long hallux, Micrognathia,... |
OMIM:600920 |
| Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Increased circulating ferritin concentration, Sideroblastic anemia, Hypochromia, Anemia, Elevated... |
OMIM:205950 |
| Tn Polyagglutination Syndrome |
|
Abnormal erythrocyte morphology, Autoimmunity |
OMIM:300622 |
| Tularemia |
|
Pneumonia, Brain abscess, Cutaneous abscess, Leukocytosis, Otitis media, Skin rash, Increased cir... |
ORPHA:3392 |
| Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Clubbing of toes, Gastroesophageal reflux, Palmoplantar keratoderma, Gastrointestinal hemorrhage,... |
ORPHA:2198 |
| Dubowitz Syndrome |
|
Small hand, Toe syndactyly, Broad thumb, Delayed cranial suture closure, Micrognathia, Cryptorchi... |
ORPHA:235 |
| Hyperparathyroidism 4 |
|
Osteopenia, Hypercalcemia, Parathyroid carcinoma, Primary hyperparathyroidism |
OMIM:617343 |
| Immunodeficiency 113 With Autoimmunity And Autoinflammation |
|
Minimal change glomerulonephritis, Eczematoid dermatitis, Hepatitis, Increased circulating IgE le... |
OMIM:620565 |
| Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased circulating IgG level, Decreased proportion of CD8-positive T cells, Decreased circulat... |
OMIM:611926 |
| Thanatophoric Dysplasia, Type I |
|
Small abnormally formed scapulae, Hypoplastic ilia, Flared metaphysis, Femoral bowing, Hypoplasti... |
OMIM:187600 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Hyperbilirubin... |
OMIM:613673 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Increased circulating ferritin concentration, Hepatosplenomegaly, Erythroid hyperplasia, Splenome... |
OMIM:616860 |
| Arteriosclerosis, Severe Juvenile |
|
Central retinal vessel vascular tortuosity, Myocardial infarction, Central fundal arteriolar micr... |
OMIM:208060 |
| Congenital Insensitivity To Pain With Severe Intellectual Disability |
|
Talipes equinovalgus, Osteomyelitis, Micrognathia, Tibial bowing, Congenital bilateral hip disloc... |
ORPHA:453510 |
| Epiphyseal Dysplasia, Multiple, 5 |
|
Epiphyseal dysplasia, Metaphyseal irregularity, Broad femoral neck, Arthralgia of the hip, Hypopl... |
OMIM:607078 |
| Metaphyseal Chondrodysplasia, Jansen Type |
|
Osteopenia, Metaphyseal cupping, Pathologic fracture, Micrognathia, Knee flexion contracture, Hip... |
OMIM:156400 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:300861 |
| Agammaglobulinemia 7, Autosomal Recessive |
|
Reduced natural killer cell count, Panhypogammaglobulinemia, Abnormal T cell morphology, Agammagl... |
OMIM:615214 |
| Zika Virus Disease |
|
Myelitis, Ankle swelling, Vomiting, Wrist swelling, Subcutaneous hemorrhage, Skin rash, Maculopap... |
ORPHA:448237 |
| Diamond-Blackfan Anemia 18 |
|
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia |
OMIM:618310 |
| Marshall Syndrome |
|
Hypoplastic ilia, Radial bowing, Irregular femoral epiphysis, Clinodactyly of the 4th finger, Wid... |
OMIM:154780 |
| Osteopetrosis, Autosomal Dominant 2 |
|
Hip osteoarthritis, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscler... |
OMIM:166600 |
| Farber Disease |
|
Cherry red spot of the macula, Hepatosplenomegaly, Abnormality of the knee, Abnormality of the el... |
ORPHA:333 |
| Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Broad middle phalanx of finger, Short distal phalanx of the thumb, Decreased circulating total Ig... |
ORPHA:221139 |
| Immunodeficiency 22 |
|
Decreased circulating IgG level, Decreased circulating IgA level, Autoimmunity, Decreased proport... |
OMIM:615758 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Delayed epiphyseal ossification, Enlarged metaphyses, Elbow dislocation, Micrognathia, Hyperbilir... |
OMIM:210710 |
| Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Finger aplasia, Short tibia, Foot oligodactyly, Fibular aplasia, Tibial bowing, Abnormality of th... |
OMIM:246570 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Decreased circulating IgG level, Bone marrow hypocellularity, Antineutrophil antibody positivity,... |
OMIM:301078 |
| Immunodeficiency 33 |
|
Decreased circulating total IgM, Increased circulating IgA level |
OMIM:300636 |
| Osteogenesis Imperfecta, Type X |
|
Osteopenia, Rhizomelia, Micromelia, Genu valgum, Fibular bowing, Micrognathia, Tibial bowing, Dec... |
OMIM:613848 |
| Moderate Hemophilia A |
|
Gingival bleeding, Gastrointestinal hemorrhage, Limitation of joint mobility, Subdural hemorrhage... |
ORPHA:169805 |
| Immunodeficiency 11A |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Agammaglobulinemia, Reduced antigen-specifi... |
OMIM:615206 |
| Rhizomelic Chondrodysplasia Punctata, Type 3 |
|
Rhizomelia, Epiphyseal stippling, Short humerus, Short femur |
OMIM:600121 |
| Thymic Neuroendocrine Tumor |
|
Osteopenia, Pituitary adenoma, Increased circulating cortisol level, Pituitary prolactin cell ade... |
ORPHA:97289 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Abnormal trabecular bone morphology, Renal hypophosphatemia, Pseudo-fractures, Lower limb asymmet... |
ORPHA:289176 |
| Adult Idiopathic Neutropenia |
|
Lymphopenia, Neutropenia, Monocytosis, Monocytopenia, Increased circulating IgM level |
ORPHA:2688 |
| Thanatophoric Dysplasia Type 1 |
|
Hypoplastic ilia, Micromelia, Joint stiffness, Femoral bowing, Bowing of the long bones, Abnormal... |
ORPHA:1860 |
| Combined Immunodeficiency Due To Dock8 Deficiency |
|
Increased circulating IgE level, T lymphocytopenia, B lymphocytopenia |
ORPHA:217390 |
| Spondyloenchondrodysplasia |
|
Pneumonia, Granuloma, Hepatitis, Systemic lupus erythematosus, Decreased response to growth hormo... |
ORPHA:1855 |
| Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome |
|
Folate-unresponsive megaloblastic anemia, Diarrhea, Abnormal erythrocyte morphology, Gastritis, M... |
ORPHA:2575 |
| Atelosteogenesis, Type Ii |
|
Abnormal pelvic girdle bone morphology, Dumbbell-shaped femur, Sandal gap, Micromelia, Micrognath... |
OMIM:256050 |
| Immunodeficiency 61 |
|
Decreased circulating total IgM, Decreased circulating IgG2 level, Decreased circulating IgG4 level |
OMIM:300310 |
| Campomelic Dysplasia |
|
Small abnormally formed scapulae, Tracheomalacia, 11 pairs of ribs, Femoral bowing, Micrognathia,... |
ORPHA:140 |
| Endosteal Hyperostosis, Autosomal Dominant |
|
Metatarsal diaphyseal endosteal sclerosis, Hyperostosis, Thickened cortex of long bones, Clavicul... |
OMIM:144750 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Elevated circulating luteinizing hormone level, Hypoplastic scapulae, Limitation of joint mobilit... |
ORPHA:95699 |
| Idiopathic Hypereosinophilic Syndrome |
|
Inflammatory abnormality of the skin, Angioedema, Swelling of proximal interphalangeal joints, He... |
ORPHA:3260 |
| Peutz-Jeghers Syndrome |
|
Biliary tract neoplasm, Gastrointestinal hemorrhage, Vomiting, Gastrointestinal carcinoma, Pancre... |
ORPHA:2869 |
| Paget Disease Of Bone 3 |
|
Patchy osteosclerosis, Fractures of the long bones, Osteolysis |
OMIM:167250 |
| Stuve-Wiedemann Syndrome 1 |
|
Short tibia, Micrognathia, Metaphyseal rarefaction, Talipes, Bowing of the long bones, Hypoplasti... |
OMIM:601559 |
| Agammaglobulinemia, X-Linked |
|
Enteroviral dermatomyositis syndrome, Recurrent otitis media, Prostatitis, Neutropenia, Meningiti... |
OMIM:300755 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Persistence of hemoglobin F |
ORPHA:46532 |
| Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Anemia, Hyperparathyroidism, Hypercalcemia, Bone cyst |
ORPHA:2668 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Patchy osteosclerosis, Small hand, Hyperphosphatemia, Decreased response to growth hormone stimul... |
OMIM:241410 |
| Autoimmune Hepatitis |
|
Antineutrophil antibody positivity, Inflammation of the large intestine, Splenomegaly, Anti-liver... |
ORPHA:2137 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Increased circulating antibody level, Thr... |
OMIM:615285 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Osteopenia, Hyperphosphatemia, Recurrent fractures, Short humerus, Lateral femoral bowing, Bowing... |
OMIM:239000 |
| Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Limitation of joint mobility, Clinodactyly, Hypoplastic iliac wing, Genu valgum, Corner fracture ... |
ORPHA:93315 |
| Langer Mesomelic Dysplasia |
|
Ulnar deviation of finger, Abnormal epiphysis morphology, Micromelia, Mesomelic/rhizomelic limb s... |
ORPHA:2632 |
| Heart-Hand Syndrome Type 2 |
|
Aplasia/Hypoplasia of the radius, Micromelia, Abnormal shoulder morphology, Short 5th metacarpal,... |
ORPHA:1350 |
| Microphthalmia With Limb Anomalies |
|
2-3 toe cutaneous syndactyly, Finger aplasia, Capitate-hamate fusion, Toe syndactyly, Postaxial f... |
OMIM:206920 |
| Wolfram Syndrome |
|
Gastrointestinal hemorrhage, Male hypogonadism, Cardiomyopathy, Recurrent urinary tract infection... |
ORPHA:3463 |
| Bloom Syndrome |
|
Neoplasm of the colon, Micrognathia, Stomach cancer, Abscess, Severe toxoplasmosis, Sparse eyelas... |
ORPHA:125 |
| Agammaglobulinemia 3, Autosomal Recessive |
|
Recurrent otitis media, Agammaglobulinemia, Absent circulating B cells, Neutropenia, Abnormal T c... |
OMIM:613501 |
| Immunodeficiency, Common Variable, 6 |
|
Decreased specific pneumococcal antibody level, Abnormal T cell count, Chronic decreased circulat... |
OMIM:613496 |
| Immunodeficiency 48 |
|
Panhypogammaglobulinemia, Abnormal B cell count, Splenomegaly, Impaired lymphocyte transformation... |
OMIM:269840 |
| Osteogenesis Imperfecta, Type Xix |
|
Osteopenia, Rhizomelia, Bowing of the arm, Joint hypermobility, Multiple prenatal fractures, Recu... |
OMIM:301014 |
| Immunodeficiency 81 |
|
Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Skin rash, Abs... |
OMIM:619374 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Abnormality of humoral immunity, Abnormal CD4:CD8 ratio, Pancytopenia, Decreased proportion of CD... |
ORPHA:572 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Inflammatory abnormality of the skin, Diarrhea, Recurrent viral infections, Increased circulating... |
OMIM:102700 |
| Primary Intestinal Lymphangiectasia |
|
Lymphopenia, Weight loss, Abdominal pain, Opportunistic infection, Ascites, Pleural effusion, Dec... |
ORPHA:90362 |
| Wiskott-Aldrich Syndrome |
|
Gingival bleeding, Abnormal eosinophil morphology, Acute leukemia, Inflammation of the large inte... |
ORPHA:906 |
| Gilbert Syndrome |
|
Unconjugated hyperbilirubinemia |
OMIM:143500 |
| Reticuloendotheliosis, X-Linked |
|
Anemia, Hepatosplenomegaly, Lymphadenopathy |
OMIM:312500 |
| Acromesomelic Dysplasia 2A |
|
Acromesomelia, Short tibia, Stillbirth, Aplasia/Hypoplasia involving the metacarpal bones, Distal... |
OMIM:200700 |
| Cranio-Osteoarthropathy |
|
Clubbing of toes, Deviation of finger, Eczematoid dermatitis, Abnormal tibia morphology, Joint st... |
ORPHA:1525 |
| Dehydrated Hereditary Stomatocytosis |
|
Neonatal hyperbilirubinemia, Increased mean corpuscular volume, Polycythemia, Increased mean corp... |
ORPHA:3202 |
| Immunodeficiency 8 With Lymphoproliferation |
|
Recurrent upper respiratory tract infections, Gastroesophageal reflux, Post-vaccination varicella... |
OMIM:615401 |
| Mhc Class Ii Deficiency 1 |
|
Recurrent viral infections, Protracted diarrhea, Neutropenia, Recurrent lower respiratory tract i... |
OMIM:209920 |
| Agammaglobulinemia 8A, Autosomal Dominant |
|
Agammaglobulinemia, B lymphocytopenia |
OMIM:616941 |
| Wiskott-Aldrich Syndrome |
|
Inflammation of the large intestine, Increased circulating IgE level, Abnormal delayed hypersensi... |
OMIM:301000 |
| Cartilage-Hair Hypoplasia |
|
Small hand, Bowing of the long bones, Diaphyseal undertubulation, Metaphyseal dysplasia, Short pa... |
ORPHA:175 |
| Spondylocarpotarsal Synostosis Syndrome |
|
Epiphyseal dysplasia, Abnormal pelvic girdle bone morphology, Hypoplasia of the odontoid process,... |
OMIM:272460 |
| Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Elbow dislocation, Genu valgum, Bilateral single transverse palmar creases, Talipes equinovarus, ... |
OMIM:143095 |
| Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Gastroesophageal reflux, Hepatitis, Clinodactyly, Slender long bone, Delayed skeletal maturation,... |
OMIM:613385 |
| Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
| Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
| Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Cataract, Bronchiolitis, Decreased circulating IgA level, Interstitial pneumonitis, Enterocolitis... |
OMIM:614878 |
| Osteopetrosis, Autosomal Recessive 9 |
|
Hyperparathyroidism, Cortical sclerosis, Pathologic fracture, Elevated circulating creatinine con... |
OMIM:620366 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Synostosis of carpal bones, Abnormal epiphysis morphology, Micromelia, Upper limb undergrowth, Li... |
ORPHA:93351 |
| Simple Cryoglobulinemia |
|
Nephritis, Monoclonal immunoglobulin M proteinemia, Viral hepatitis, Paraproteinemia, Reduced cir... |
ORPHA:91139 |
| Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Hepatosplenomegaly, Abnormal metatarsal morphology, Synovitis, Knee osteoarthritis, Iridocyclitis... |
ORPHA:85408 |
| Multiple Epiphyseal Dysplasia Type 1 |
|
Delayed epiphyseal ossification, Arthralgia of the hip, Limitation of joint mobility, Avascular n... |
ORPHA:93308 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hypoalbuminemia, Increased total bilirubin, Splenomegaly, Increased serum bile acid concentration... |
OMIM:619868 |
| Immunodeficiency 104 |
|
Pneumonia, Gastroesophageal reflux, Diarrhea, Chronic mucocutaneous candidiasis, Eczematoid derma... |
OMIM:608971 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Myelofibrosis, Increased bone mineral density, Hyperostosis cranialis interna |
OMIM:231095 |
| Zygomycosis |
|
Diarrhea, Ileitis, Pustule, Hematological neoplasm, Acute infectious pneumonia, Neutropenia, Endo... |
ORPHA:73263 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Flared metaphysis, Pathologic fracture, Osteomyelitis, Pancytopenia, Splenomegaly, Hypocalcemia, ... |
OMIM:259700 |
| Crigler-Najjar Syndrome Type 1 |
|
Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia |
ORPHA:79234 |
| Immunodeficiency 15B |
|
Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Dea... |
OMIM:615592 |
| Intermediate Osteopetrosis |
|
Cortical sclerosis, Osteomyelitis, Recurrent fractures, Increased susceptibility to fractures, Ge... |
ORPHA:210110 |
| W Syndrome |
|
Radial bowing, Clinodactyly, Elbow dislocation, Pes cavus, Cubitus valgus, Pes planus, Hypoplasia... |
ORPHA:2804 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Epiphyseal dysplasia, Radial bowing, Carpal synostosis, Genu valgum, Micrognathia, Talipes equino... |
OMIM:271640 |
| Isobutyryl-Coa Dehydrogenase Deficiency |
|
Anemia, Dilated cardiomyopathy |
OMIM:611283 |
| Diamond-Blackfan Anemia 16 |
|
Anemia, Atrial septal defect, Pulmonic stenosis |
OMIM:617408 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 2 |
|
Radial bowing |
OMIM:617993 |
| Gracile Bone Dysplasia |
|
Slender long bone, Flared metaphysis, Hypocalcemia, Death in infancy, Decreased skull ossificatio... |
OMIM:602361 |
| Immunodeficiency 23 |
|
Allergic rhinitis, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, Increased circulatin... |
OMIM:615816 |
| Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Increased circulating IgE level, Eosinophilia |
OMIM:618523 |
| Juvenile Polyposis Of Infancy |
|
Intestinal bleeding, Broad thumb, Diarrhea, Broad phalanx of the toes, Cachexia, Abdominal pain, ... |
ORPHA:79076 |
| Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Small pituitary gland, Trident pelvis, Short humerus, Bowed humerus, Brachydactyly, Short long bo... |
OMIM:619479 |
| Cartilage-Hair Hypoplasia |
|
Metaphyseal cupping, Abnormal pelvic girdle bone morphology, Hypoplasia of the odontoid process, ... |
OMIM:250250 |
| Deafness, Neural, With Atypical Atopic Dermatitis |
|
Increased circulating IgE level |
OMIM:221700 |
| Tenosynovial Giant Cell Tumor |
|
Abnormality of the ankle, Chondrocalcinosis, Limitation of joint mobility, Lymphedema, Abnormal s... |
ORPHA:66627 |
| Immunodeficiency 35 |
|
Increased circulating IgE level |
OMIM:611521 |
| Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
| Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
| Hemophilia A |
|
Gastrointestinal hemorrhage, Spontaneous hematomas, Joint swelling, Intracranial hemorrhage, Intr... |
ORPHA:98878 |
| Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Epiphyseal dysplasia, Osteopenia, Decreased response to growth hormone stimulation test, Cryptorc... |
OMIM:614732 |
| Palmoplantar Keratoderma, Epidermolytic, 1 |
|
Increased circulating IgE level |
OMIM:144200 |
| Immunodeficiency 12 |
|
Decreased lymphocyte proliferation in response to anti-CD3, Recurrent aphthous stomatitis, Comple... |
OMIM:615468 |
| Immunodeficiency 96 |
|
Decreased circulating IgG level, Increased mean corpuscular volume, Eczematoid dermatitis, Increa... |
OMIM:619774 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Hyperbilirubinemia, Reticulocytosis, ... |
OMIM:224120 |
| Angiostrongyliasis |
|
Stiff neck, Hypereosinophilia, Increased circulating specific IgE antibody, Increased circulating... |
ORPHA:74 |
| Edinburgh Malformation Syndrome |
|
Neonatal hyperbilirubinemia |
OMIM:129850 |
| Spondylometaphyseal Dysplasia, Type A4 |
|
Irregular patellae, Hypoplasia of the capital femoral epiphysis, Metaphyseal sclerosis, Sclerotic... |
OMIM:609052 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Rhizomelia, Metaphyseal cupping, Flared metaphysis, Short finger, Joint stiffness, Femoral bowing... |
OMIM:608940 |
| Metaphyseal Anadysplasia 2 |
|
Micromelia, Short femoral neck, Metaphyseal widening, Metaphyseal irregularity, Genu varum, Bowin... |
OMIM:613073 |
| Osteopetrosis, Autosomal Dominant 3 |
|
Hyperparathyroidism, Osteopenia, Splenomegaly, Anemia, Recurrent fractures |
OMIM:618107 |
| Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Abnormal epiphysis morphology, Synostosis of carpal bones, Micromelia, Limitation of joint mobili... |
ORPHA:2639 |
| Hyperparathyroidism, Neonatal Severe |
|
Elevated circulating parathyroid hormone level, Hypercalcemia, Splenomegaly, Hypophosphatemia, Ca... |
OMIM:239200 |
| Hyper-Igd Syndrome |
|
Neutrophilia, Lymphadenitis, Hepatosplenomegaly, Leukocytosis, Skin rash, Splenomegaly, Increased... |
OMIM:260920 |
| Bernard-Soulier Syndrome |
|
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Giant platelets, Abnormal bleeding, Pr... |
OMIM:231200 |
| Pseudohypoparathyroidism, Type Ia |
|
Elevated circulating parathyroid hormone level, Short toe, Hyperphosphatemia, Short finger, Hypog... |
OMIM:103580 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Abnormally low T cell receptor excision circle level, Panhypogammaglobulinemia, Increased circula... |
OMIM:602450 |
| Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Craniofacial hyperostosis, Craniofacial osteosclerosis, Diaphyseal sclerosis, Cortical sclerosis |
OMIM:122860 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Increased circulating iron concentration, Increased mean corpuscular volume, Increased total iron... |
ORPHA:98870 |
| Multiple Epiphyseal Dysplasia, Lowry Type |
|
Epiphyseal dysplasia, Delayed epiphyseal ossification, Rhizomelia, Small epiphyses, Genu valgum, ... |
ORPHA:166016 |
| Phocomelia, Schinzel Type |
|
Finger aplasia, Radial bowing, Micromelia, Aplasia/Hypoplasia involving the pelvis, Abnormal tibi... |
ORPHA:2879 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Recurrent upper respiratory tract infections, Hemophagocytosis, Hepatosplenomegaly, Splenomegaly,... |
OMIM:613101 |
| Hypogonadotropic Hypogonadism 21 With Or Without Anosmia |
|
Osteoporosis, Osteopenia |
OMIM:615271 |
| Hypophosphatemic Bone Disease |
|
Rickets, Osteomalacia |
OMIM:146350 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Recurrent infections, Periorbital edema, Finger swelling, Failure to thrive, Lymphopenia, Splenom... |
OMIM:617591 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eczematoid dermatitis, Hepatitis, Increased circulating IgE level, Decreased FOXP3-expressing T c... |
OMIM:304790 |
| Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Decreased proportion of memory B cells, Inflammation of the large intestine, Diarrhea, Anoperinea... |
OMIM:301074 |
| Familial Isolated Hyperparathyroidism |
|
Osteopenia, Elevated circulating parathyroid hormone level, Hypophosphatemia, Parathyroid adenoma... |
ORPHA:99879 |
| Autoinflammation With Infantile Enterocolitis |
|
Reduced natural killer cell count, Diffuse alveolar hemorrhage, Secretory diarrhea, Failure to th... |
OMIM:616050 |
| Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Coronal craniosynostosis, Capitate-hamate fusion, Short toe, Knee dislocation, Genu valgum, Limit... |
OMIM:614078 |
| Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Rhizomelia, Deformed humeral heads, Short humerus, Brachydactyly, Coxa vara, Short metatarsal, Sh... |
OMIM:601438 |
| Gastritis, Familial Giant Hypertrophic |
|
Giant hypertrophic gastritis |
OMIM:137280 |
| Femur-Fibula-Ulna Complex |
|
Aplasia/Hypoplasia of the radius, Finger syndactyly, Micromelia, Abnormal femur morphology, Humer... |
ORPHA:2019 |
| Lethal Recessive Chondrodysplasia |
|
Micromelia, Micrognathia, Flared elbow metaphyses, Generalized osteosclerosis, Limb undergrowth, ... |
ORPHA:1423 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Diarrhea, Vomiting, Microangiopathic hemolytic anemia, Bloody diarrhea, Leukocytosis, Reticulocyt... |
ORPHA:90038 |
| Schnitzler Syndrome |
|
Anemia, Increased circulating IgM level, Leukocytosis, Splenomegaly |
ORPHA:37748 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Bacterial endocarditis, Cholelithiasis, Abnormality of the spleen, Hepatosplenomegaly, Pancytopen... |
ORPHA:2072 |
| Lymphoproliferative Syndrome 1 |
|
Decreased circulating IgG level, Hemophagocytosis, Pancytopenia, Decreased circulating antibody l... |
OMIM:613011 |
| Epiphyseal Dysplasia, Multiple, 7 |
|
Epiphyseal dysplasia, Hypoplasia of the capital femoral epiphysis, Monkey wrench femoral neck, Ad... |
OMIM:617719 |
| Otopalatodigital Syndrome, Type Ii |
|
Broad thumb, Toe syndactyly, Radial bowing, Rudimentary fibula, Overlapping fingers, Radial devia... |
OMIM:304120 |
| Antley-Bixler Syndrome |
|
Camptodactyly of finger, Joint stiffness, Femoral bowing, Arachnodactyly, Talipes, Elbow ankylosi... |
ORPHA:83 |
| Epiphyseal Dysplasia, Multiple, 1 |
|
Epiphyseal dysplasia, Delayed epiphyseal ossification, Hip osteoarthritis, Broad femoral neck, Ir... |
OMIM:132400 |
| Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Diarrhea, Recurrent enteroviral infections, Enteroviral dermatomyositis syndrome, Recurrent otiti... |
OMIM:307200 |
| Boutonneuse Fever |
|
Vasculitis, Cervical lymphadenopathy, Leukopenia, Lymphadenopathy, Thrombocytopenia, Increased ci... |
ORPHA:83313 |
| Subacute Inflammatory Demyelinating Polyneuropathy |
|
Peripheral demyelination, Leukocytosis, Demyelinating motor neuropathy, Increased circulating IgG... |
ORPHA:206594 |
| Reynolds Syndrome |
|
Gastroesophageal reflux, Xerostomia, Ascites, Abnormal gastric mucosa morphology, Skin rash, Infe... |
ORPHA:779 |
| Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Polyarticular arthritis, Lymphopenia, Skin rash, Thrombocytopenia, Ileal ulcer, Colitis, Hemolyti... |
OMIM:616744 |
| Wild Type Abeta2M Amyloidosis |
|
Gastrointestinal hemorrhage, Intestinal pseudo-obstruction, Congestive heart failure, Abnormal sh... |
ORPHA:85446 |
| Aggressive Systemic Mastocytosis |
|
Diarrhea, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Weight loss, Neutropenia, Anorexia, Le... |
ORPHA:98850 |
| Systemic Lupus Erythematosus 16 |
|
Systemic lupus erythematosus, Anti-dsDNA antibody positivity, Antinuclear antibody positivity, De... |
OMIM:614420 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Decreased circulating IgG level, Joint dislocation, Lymphopenia, Joint stiffness, Leukopenia, Spl... |
OMIM:620210 |
| Kenny-Caffey Syndrome, Type 2 |
|
Hyperphosphatemia, Hypocalcemia, Abnormality of the medullary cavity of the long bones, Thickened... |
OMIM:127000 |
| Systemic Sclerosis |
|
Intestinal bleeding, Finger swelling, Telangiectasia, Glomerulonephritis, Recurrent skin infectio... |
ORPHA:90291 |
| C1Q Deficiency 2 |
|
Discoid lupus rash, Recurrent otitis media, Malar rash, Extractable nuclear antigen positivity, A... |
OMIM:620321 |
| Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent pneumonia, Recurrent enteroviral infections, Failure to thrive, Rectal abscess, Panhypo... |
OMIM:601495 |
| Peeling Skin Syndrome 1 |
|
Increased circulating IgE level, Eosinophilia |
OMIM:270300 |
| Glanzmann Thrombasthenia 1 |
|
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Decreased platelet glycoprotein IIb-II... |
OMIM:273800 |
| Gnathodiaphyseal Dysplasia |
|
Osteopenia, Increased susceptibility to fractures, Diaphyseal cortical sclerosis, Osteomyelitis |
OMIM:166260 |
| Eosinophilia, Familial |
|
Leukocytosis, Eosinophilia, Thrombocytopenia, Myocardial eosinophilic infiltration, Anemia |
OMIM:131400 |
| Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Microcytic anemia, Elbow flexion contracture, Hepatosplenomegaly, Pancytopenia, Knee flexion cont... |
OMIM:604416 |
| Ivic Syndrome |
|
Carpal synostosis, Limited elbow movement, Carpal bone hypoplasia, Radioulnar synostosis, Limited... |
OMIM:147750 |
| Wiskott-Aldrich Syndrome 2 |
|
Eczematoid dermatitis, Decreased proportion of CD8-positive T cells, Defective T cell proliferati... |
OMIM:614493 |
| Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Decreased circulating IgG level, Hypertrophic cardiomyopathy, Agammaglobulinemia, Absent circulat... |
OMIM:619705 |
| Alpha-Heavy Chain Disease |
|
Ascites, Splenomegaly, Dysgammaglobulinemia, Hepatomegaly, Lymphadenopathy, Anemia |
ORPHA:100025 |
| Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Anemia, Leukocytosis, Ulcerative colitis, Bloody diarrhea |
OMIM:619398 |
| Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Failure to thrive, Delayed skeletal maturation, Decreased circulating IgA level, Recurrent skin i... |
OMIM:617744 |
| Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Finger syndactyly, Radioulnar synostosis, Amegakaryocytic thrombocytopenia, Hip dysplasia, Clinod... |
ORPHA:71289 |
| Whim Syndrome 1 |
|
Decreased circulating IgG level, Decreased circulating antibody level, Bronchiectasis, Neutropenia |
OMIM:193670 |
| Shigellosis |
|
Microangiopathic hemolytic anemia, Abscess, Anorexia, Abdominal pain, Corneal ulceration, Purpura... |
ORPHA:810 |
| Serrated Polyposis Syndrome |
|
Biliary tract neoplasm, Neoplasm of the large intestine, Pancreatic adenocarcinoma, Schwannoma, P... |
ORPHA:157798 |
| T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Recurrent viral infections, Lymphopenia, Hepatosplenomegaly, Acute otitis media, Pustule, Rectova... |
ORPHA:35078 |
| Ige Responsiveness, Atopic |
|
Increased circulating IgE level |
OMIM:147050 |
| Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hepatitis, Systemic lupus erythematosus, Recurrent otitis media, Lymphopenia, Autoimmunity, Autoi... |
ORPHA:444463 |
| Visceral Myopathy 2 |
|
Barrett esophagus, Gastroesophageal reflux, Volvulus, Intestinal pseudo-obstruction, Intestinal m... |
OMIM:619350 |
| Pseudohypoparathyroidism Type 1C |
|
Hyperphosphatemia, Calcinosis, Short metacarpal, Broad distal phalanx of the thumb, Ectopic ossif... |
ORPHA:79444 |
| Osteogenesis Imperfecta, Type Xvi |
|
Osteopenia, Rhizomelia, Microretrognathia, Decreased calvarial ossification, Bowing of the long b... |
OMIM:616229 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hemophagocytosis, Splenomegaly, Skin rash, Thrombocytopenia, Neutropenia, Anemia, Conjunctivitis,... |
OMIM:603552 |
| Immunodeficiency 37 |
|
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Infectious encephalitis,... |
OMIM:616098 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Ileal atresia, Colonic atresia, Lymphopenia, Psoriasiform dermatitis, Intestinal obstruction, Rec... |
OMIM:243150 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 6 |
|
Osteopenia, Toe syndactyly, Elbow flexion contracture, Death in childhood, Knee flexion contractu... |
OMIM:616809 |
| Achalasia, Familial Esophageal |
|
Rheumatoid arthritis, Xerostomia, Keratoconjunctivitis sicca |
OMIM:200400 |
| Meckel Diverticulum |
|
Meckel diverticulum |
OMIM:155140 |
| Trichothiodystrophy 3, Photosensitive |
|
Lymphopenia, Increased circulating IgA level, Neutropenia |
OMIM:616395 |
| Hypophosphatasia |
|
Abnormal metaphysis morphology, Bowing of the long bones, Anemia, Craniosynostosis, Hypercalcemia... |
ORPHA:436 |
| Mccune-Albright Syndrome |
|
Precocious puberty, Hyperparathyroidism, Craniofacial hyperostosis, Pituitary adenoma, Increased ... |
OMIM:174800 |
| Mesomelic Dysplasia, Nievergelt Type |
|
Aplasia/Hypoplasia of the radius, Limitation of joint mobility, Finger syndactyly, Micromelia, Ca... |
ORPHA:2633 |
| Blood Group, Cromer System |
|
Protein-losing enteropathy |
OMIM:613793 |
| Heinz Body Anemias |
|
Heinz bodies, Nonspherocytic hemolytic anemia, Heinz body anemia |
OMIM:140700 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent viral infections, Lymphadenitis, Decreased proportion of CD8-positive T cells, Hepatosp... |
ORPHA:911 |
| Osteosarcoma |
|
Abnormal femoral metaphysis morphology, Pathologic fracture, Abnormal tibial metaphysis morpholog... |
ORPHA:668 |
| Adult-Onset Still Disease |
|
Bone marrow hypocellularity, Hepatitis, Leukocytosis, Splenomegaly, Skin rash, Interstitial pneum... |
ORPHA:829 |
| Immunodeficiency, Common Variable, 10 |
|
Decreased circulating IgG level, Recurrent pneumonia, Frequent Giardia lamblia infestation, Recur... |
OMIM:615577 |
| Celiac Disease, Susceptibility To, 1 |
|
Diarrhea, Weight loss, Abdominal distention, Celiac disease, Abdominal pain, Stomatitis, Alopecia... |
OMIM:212750 |
| Astley-Kendall Dysplasia |
|
Epiphyseal stippling, Micromelia |
ORPHA:85175 |
| Hip Dysplasia, Beukes Type |
|
Osteoarthritis, Abnormal ossification involving the femoral head and neck, Abnormality of bone mi... |
ORPHA:2114 |
| Candidiasis, Familial, 1 |
|
Cutaneous anergy, Chronic mucocutaneous candidiasis |
OMIM:114580 |
| Geroderma Osteodysplasticum |
|
Osteopenia, Femoral bowing, Increased susceptibility to fractures, Tibial bowing, Camptodactyly, ... |
OMIM:231070 |
| Mesomelia-Synostoses Syndrome |
|
Mesomelia, Metacarpal synostosis, Tarsometatarsal synostosis, Microretrognathia, Micromelia, Ulna... |
OMIM:600383 |
| Diarrhea 12, With Microvillus Atrophy |
|
Osteopenia, Vomiting, Secretory diarrhea, Villous atrophy, Microvillar PAS-positive secretory gra... |
OMIM:619445 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Abnormal cardiac septum morphology, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:3319 |
| Erdheim-Chester Disease |
|
Abnormal epiphysis morphology, Congestive heart failure, Osteomyelitis, Xanthelasma, Pleural effu... |
ORPHA:35687 |
| Immunoneurologic Disorder, X-Linked |
|
Decreased circulating IgG2 level, Neonatal death |
OMIM:300076 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Cone-shaped epiphysis, Metaphyseal spurs, Preaxial polydactyly, Acetabular spurs, Femoral bowing,... |
OMIM:613091 |
| Bile Acid Synthesis Defect, Congenital, 5 |
|
Increased total iron binding capacity, Hyperbilirubinemia, Splenomegaly, Increased serum bile aci... |
OMIM:616278 |
| Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Aplasia/Hypoplasia of the radius, Finger syndactyly, Abnormal femur morphology, Aplasia/hypoplasi... |
ORPHA:2141 |
| Microphthalmia With Limb Anomalies |
|
Synostosis of joints, Toe syndactyly, Synostosis of carpal bones, Short tibia, Postaxial foot pol... |
ORPHA:1106 |
| Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hyperparathyroidism, Elevated circulating parathyroid hormone level, Rickets, Hypercalcemia, Hypo... |
OMIM:612089 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Short tibia, Cryptorchidism, Epicanthus, Talipes equinovarus, Decreased circulating total IgM, Sm... |
OMIM:607143 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Normocytic anemia, Antineutrophil antibody positivity, Rheumatoid arthritis, Systemic lupus eryth... |
ORPHA:49041 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Small hand, Joint contracture of the hand, Hypoplastic iliac wing, Cutaneous finger syndactyly, C... |
OMIM:235510 |
| Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Rhizomelia, Brain abscess, Femoral bowing, Tibial bowing, Neonatal death, Palmoplantar cutis laxa... |
OMIM:616482 |
| Brachydactyly-Elbow Wrist Dysplasia Syndrome |
|
Aplasia/Hypoplasia of the radius, Synostosis of carpal bones, Elbow dislocation, Abnormal distal ... |
ORPHA:1275 |
| Myeloma, Multiple |
|
Paraproteinemia |
OMIM:254500 |
| Osteogenesis Imperfecta, Type Xii |
|
Generalized osteoporosis, Hypermobility of interphalangeal joints, Hyperextensibility of the fing... |
OMIM:613849 |
| Progressive Familial Intrahepatic Cholestasis |
|
Reduced bone mineral density, Splenomegaly, Hypocalcemia |
ORPHA:172 |
| Thanatophoric Dysplasia, Glasgow Variant |
|
Anemia, Hepatosplenomegaly, Neonatal death |
OMIM:273680 |
| Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Vasculitis, Inflammation of the large intestine, Abnormal epiphysis morphology, Craniofacial oste... |
ORPHA:324964 |
| Bleeding Disorder, Platelet-Type, 22 |
|
Gastrointestinal hemorrhage, Excessive bleeding from superficial cuts, Subcutaneous hemorrhage, I... |
OMIM:618462 |
| Immunodeficiency 115 With Autoinflammation |
|
Decreased circulating IgG level, Eczematoid dermatitis, Superficial dermal perivascular inflammat... |
OMIM:620632 |
| Osteogenesis Imperfecta, Type I |
|
Osteopenia, Femoral bowing, Increased susceptibility to fractures, Joint hypermobility, Hip dyspl... |
OMIM:166200 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Pneumonia, Reduced natural killer cell count, Diarrhea, Failure to thrive, Decreased circulating ... |
OMIM:242860 |
| Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Increased mean corpuscular volume, Hyperbilirubinemia, Splenomegaly, Reticulocyto... |
OMIM:185000 |
| Robin Sequence-Oligodactyly Syndrome |
|
Finger aplasia, Micrognathia, Abnormal morphology of ulna, Abnormal metacarpal morphology, Clinod... |
ORPHA:3104 |
| Specific Granule Deficiency 1 |
|
Recurrent pneumonia, Increased neutrophil mitochondria, Increased neutrophil ribosomes, Recurrent... |
OMIM:245480 |
| Fibrous Dysplasia Of Bone |
|
Increased circulating cortisol level, Osteomalacia, Abnormal tibia morphology, Ovarian cyst, Bowi... |
ORPHA:249 |
| Diamond-Blackfan Anemia 3 |
|
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... |
OMIM:610629 |
| Insulin-Resistance Syndrome Type B |
|
Pneumonia, Decreased circulating complement factor B concentration, Nephritis, Systemic lupus ery... |
ORPHA:2298 |
| Ulna Metaphyseal Dysplasia Syndrome |
|
Hypercalcemia, Coxa valga |
OMIM:191420 |
| Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly |
|
Rhizomelia, Brachydactyly, Broad palm, Postaxial hand polydactyly, Short foot, Short metacarpal, ... |
OMIM:611263 |
| Cyanosis, Transient Neonatal |
|
Anemia, Methemoglobinemia, Reticulocytosis |
OMIM:613977 |
| Osteogenesis Imperfecta, Type Xxi |
|
Bowing of the arm, Joint hypermobility, Pes valgus, Pes planus, Coxa vara, Osteoporosis, Recurren... |
OMIM:619131 |
| Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Rhizomelia, Deviation of finger, Genu valgum, Deformed humeral heads, Short humerus, Brachydactyl... |
ORPHA:2831 |
| Muckle-Wells Syndrome |
|
Polyarticular arthritis, Recurrent aphthous stomatitis, Leukocytosis, Conjunctival hyperemia, Con... |
OMIM:191900 |
| Sanjad-Sakati Syndrome |
|
Patchy osteosclerosis, Small hand, Hyperphosphatemia, Micrognathia, Cryptorchidism, Hypocalcemia,... |
ORPHA:2323 |
| Secondary Intestinal Lymphangiectasia |
|
Intestinal bleeding, Lymphopenia, Intestinal obstruction, Celiac disease, Gastrointestinal eosino... |
ORPHA:90363 |
| Greenberg Dysplasia |
|
Rhizomelia, Micromelia, Abnormal pelvis bone ossification, Micrognathia, Abnormal leukocyte morph... |
ORPHA:1426 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Radial bowing, Aplasia/Hypoplasia of the pubic bone, Fibular aplasia, Cryptorchidism, Humeroradia... |
OMIM:276820 |
| Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Abnormal epiphysis morphology, Elbow dislocation, Camptodactyly of finger, Abnormal hip bone morp... |
ORPHA:2631 |
| Diarrhea 5, With Tufting Enteropathy, Congenital |
|
Intractable diarrhea, Villous atrophy, Arthritis, Crypt hyperplasia |
OMIM:613217 |
| Indolent Systemic Mastocytosis |
|
Mastocytosis, Increased proportion of CD25+ mast cells, Skin rash, Splenomegaly, Osteoporosis, Ma... |
ORPHA:98848 |
| Smith-Kingsmore Syndrome |
|
Short distal phalanx of finger, Rhizomelia, Deep plantar creases, Downslanted palpebral fissures,... |
OMIM:616638 |
| Familial Calcium Pyrophosphate Deposition |
|
Chondrocalcinosis, Joint dislocation, Limitation of joint mobility, Joint swelling, Osteoarthriti... |
ORPHA:1416 |
| Osteogenesis Imperfecta, Type Xxiii |
|
Osteopenia, Shallow acetabular fossae, Genu valgum, Recurrent fractures, Broad femoral head, Redu... |
OMIM:620639 |
| Hypophosphatasia, Infantile |
|
Unossified vertebral bodies, Metaphyseal cupping, Micromelia, Elevated plasma pyrophosphate, Incr... |
OMIM:241500 |
| Hypochondroplasia |
|
Abnormal pelvic girdle bone morphology, Micromelia, Short toe, Abnormal femur morphology, Joint h... |
ORPHA:429 |
| Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Slender finger, Small hand, Broad thumb, Osteopenia, Broad hallux, Decreased testicular size, Abn... |
ORPHA:251028 |
| Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome |
|
Coarse metaphyseal trabecularization, Epiphyseal stippling, Bowing of the long bones, Abnormal bo... |
ORPHA:1952 |
| Immunodeficiency 9 |
|
Decreased circulating IgG level, Failure to thrive, BCGitis, Lymphopenia, Decreased circulating I... |
OMIM:612782 |
| Chromosome 5Q Deletion Syndrome |
|
Erythroid hypoplasia, Refractory macrocytic anemia, Anemia of inadequate production |
OMIM:153550 |
| Thrombocytopenia 1 |
|
Decreased mean platelet volume, Eczematoid dermatitis, Increased circulating IgE level, Increased... |
OMIM:313900 |
| Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome |
|
Femoral bowing, Fibular bowing, Tibial bowing, Metaphyseal chondrodysplasia, Aplasia/Hypoplasia o... |
ORPHA:85165 |
| Pseudohypoparathyroidism Type 1A |
|
Hyperphosphatemia, Calcinosis, Short metacarpal, Broad distal phalanx of the thumb, Ectopic ossif... |
ORPHA:79443 |
| Pyruvate Kinase Deficiency Of Red Cells |
|
Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Reticulocytosis, Splenomegaly, Red... |
OMIM:266200 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly... |
OMIM:300908 |
| Juvenile Polyposis Syndrome |
|
Hematochezia, Diarrhea, Intussusception, Failure to thrive, Duodenal adenocarcinoma, Rectal prola... |
OMIM:174900 |
| Lethal Congenital Contracture Syndrome 10 |
|
Stiff neck, Overlapping fingers, Femoral bowing, Micrognathia, Hypoplasia of the thymus, Talipes ... |
OMIM:617022 |
| Masp2 Deficiency |
|
Reduced circulating complement concentration, Recurrent pneumonia, Ulcerative colitis |
OMIM:613791 |
| Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Failure to thrive in infancy, Osteomyelitis, Splenomegaly, Skin rash, Joint swelling,... |
OMIM:612852 |
| Isolated Agammaglobulinemia |
|
Pneumonia, Diarrhea, Sepsis, Failure to thrive, Recurrent respiratory infections, Abnormal lympho... |
ORPHA:229717 |
| Lymphoid Interstitial Pneumonia |
|
Rheumatoid arthritis, Eczematoid dermatitis, Autoimmunity, Skin rash, Keratoconjunctivitis sicca,... |
ORPHA:79128 |
| Mantle Cell Lymphoma |
|
Splenomegaly, Lymphadenopathy |
ORPHA:52416 |
| Coffin-Siris Syndrome 1 |
|
Facial hypertrichosis, Dry hair, Sparse scalp hair, Cryptorchidism, Aplasia/Hypoplasia of the pat... |
OMIM:135900 |
| Momo Syndrome |
|
Long foot, Femoral bowing, Short sternum, Large hands, Abnormal bone ossification, Congenital pse... |
ORPHA:2563 |
| Griscelli Syndrome, Type 2 |
|
Reduced delayed hypersensitivity, Hepatosplenomegaly, Hemophagocytosis |
OMIM:607624 |
| Reactive Arthritis |
|
Aortic regurgitation, Inflammation of the large intestine, Diarrhea, Recurrent urinary tract infe... |
ORPHA:29207 |
| Adenylate Kinase Deficiency, Hemolytic Anemia Due To |
|
Hemolytic anemia, Reduced erythrocyte adenylate kinase activity |
OMIM:612631 |
| Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Hypochromic anemia, Increased circulating IgE level, Leukocytosis, Decreased T cell activation, P... |
OMIM:618213 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Decreased fibular diameter, Micrognathia, Decreased skull ossification, Multiple prenatal fractur... |
OMIM:616897 |
| Roifman Syndrome |
|
Epiphyseal dysplasia, Recurrent pneumonia, Prominent eyelashes, Eczematoid dermatitis, Short toe,... |
ORPHA:353298 |
| Systemic Lupus Erythematosus 17 |
|
Myelitis, Anti-aquaporin 4 antibody positivity, Systemic lupus erythematosus, Decreased circulati... |
OMIM:301080 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Increased bone mineral density, Osteopetrosis, Recurrent fractures |
OMIM:611490 |
| Hypophosphatasia, Adult |
|
Rickets, Osteomalacia, Pathologic fracture, Increased susceptibility to fractures, Recurrent frac... |
OMIM:146300 |
| Odontochondrodysplasia 1 |
|
Mesomelia, Genu recurvatum, Metaphyseal cupping, Micromelia, Irregular epiphyses, Small epiphyses... |
OMIM:184260 |
| Unclassified Myelodysplastic Syndrome |
|
Acute myeloid leukemia, Bone marrow hypocellularity, Autoimmunity, Leukocytosis |
ORPHA:98827 |
| Alpha-1-Antitrypsin Deficiency |
|
Splenomegaly, Cirrhosis, Gastric varix, Bronchiectasis, Hepatocellular carcinoma |
OMIM:613490 |
| Hypocomplementemic Urticarial Vasculitis |
|
Diarrhea, Joint dislocation, Angioedema, Ascites, Reduced circulating complement concentration, E... |
ORPHA:36412 |
| Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Inflammation of the large intestine, Granuloma, Interface hepatitis, Anti-liver cytosolic antigen... |
ORPHA:562639 |
| Autoinflammatory Disease, Systemic, X-Linked |
|
Decreased circulating IgG level, Panuveitis, Osteomyelitis, Hepatosplenomegaly, Panniculitis, Com... |
OMIM:301081 |
| Ebola Hemorrhagic Fever |
|
Gastrointestinal hemorrhage, Diarrhea, Vomiting, Hepatitis, Sepsis, Abnormal bleeding, Lymphopeni... |
ORPHA:319218 |
| Premature Aging Syndrome, Penttinen Type |
|
Short distal phalanx of finger, Elevated circulating thyroid-stimulating hormone concentration, S... |
OMIM:601812 |
| Dominant Beta-Thalassemia |
|
Abnormality of iron homeostasis, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence ... |
ORPHA:231226 |
| Osteochondrosis Of The Tarsal Bone |
|
Tarsal sclerosis, Abnormal tarsal ossification, Chondritis, Osteochondritis dissecans, Tarsal sti... |
ORPHA:563991 |
| Dysostosis Multiplex, Ain-Naz Type |
|
Elongated femoral neck, Hypoplastic iliac wing, Wide humerus, Glenoid fossa hypoplasia, Flat acet... |
OMIM:619345 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Recurrent ... |
OMIM:618986 |
| Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Abnormal lymph node morphology |
OMIM:136580 |
| Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Decreased circulating IgA level, Generalized bone demineralization, Abnormal T cell morphology |
OMIM:215250 |
| Von Willebrand Disease |
|
Epistaxis, Gastrointestinal hemorrhage, Deviation of finger, Abnormality of thrombocytes, Bruisin... |
ORPHA:903 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Inflammation of the large intestine, Decreased specific anti-polysaccharide antibody level, Failu... |
OMIM:614576 |
| Congenital Atransferrinemia |
|
Anemia, Hypothyroidism |
ORPHA:1195 |
| Osteogenesis Imperfecta, Type Iv |
|
Femoral bowing present at birth, straightening with time, Increased susceptibility to fractures, ... |
OMIM:166220 |
| Thoracomelic Dysplasia |
|
Abnormal pelvic girdle bone morphology, Elbow dislocation, Genu valgum, Short ribs, Joint hypermo... |
ORPHA:1803 |
| Neutrophil Immunodeficiency Syndrome |
|
Abnormality of neutrophil physiology, Leukocytosis |
ORPHA:183707 |
| Immunodeficiency 76 |
|
Recurrent pneumonia, Lymphopenia, Splenomegaly, T lymphocytopenia, B-cell lymphoma, Lymphadenopat... |
OMIM:619164 |
| Ring Chromosome 4 Syndrome |
|
Aplasia/Hypoplasia of the radius, Split hand, Abnormality of the upper limb, Abnormal morphology ... |
ORPHA:1447 |
| Immunodeficiency 75 With Lymphoproliferation |
|
Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Follicular hyperplasia... |
OMIM:619126 |
| Glanzmann Thrombasthenia |
|
Gingival bleeding, Menometrorrhagia, Gastrointestinal hemorrhage, Prolonged bleeding following ci... |
ORPHA:849 |
| Rhizomelic Dysplasia, Ain-Naz Type |
|
Rhizomelia, Limitation of joint mobility, Wide distal femoral metaphysis, Short humerus, Hypoplas... |
OMIM:619598 |
| Panniculitis-Induced Localized Lipodystrophy |
|
Abnormal immunoglobulin level, Inflammatory abnormality of the skin, Antinuclear antibody positivity |
ORPHA:90159 |
| Laron Syndrome |
|
Delayed menarche, Decreased serum insulin-like growth factor 1, Limb undergrowth, Short long bone |
OMIM:262500 |
| Blue Rubber Bleb Nevus |
|
Intestinal bleeding, Volvulus, Pathologic fracture, Iron deficiency anemia, Thrombocytopenia, Rec... |
OMIM:112200 |
| Osteogenesis Imperfecta, Type Xxii |
|
Slender long bone, Abnormal blood phosphate concentration, Decreased circulating osteocalcin leve... |
OMIM:619795 |
| Acromesomelic Dysplasia, Grebe Type |
|
Synostosis of carpal bones, Short tibia, Micromelia, Short toe, Aplasia of the middle phalanges o... |
ORPHA:2098 |
| Oculogastrointestinal Muscular Dystrophy |
|
Intestinal pseudo-obstruction, Gastroparesis, Abnormal gastric mucosa morphology, Abnormality of ... |
ORPHA:1876 |
| Idiopathic Chronic Eosinophilic Pneumonia |
|
Increased circulating IgE level, Hypereosinophilia, Leukocytosis |
ORPHA:2902 |
| Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Abnormality of T cell physiology |
OMIM:308220 |
| Nephronophthisis |
|
Anemia |
ORPHA:655 |
| Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Systemic lupus erythematosus, Anti-dsDNA antibody positivity, Splenomegaly, Hodgkin lymphoma, Ant... |
OMIM:619375 |
| Mogs-Cdg |
|
Decreased circulating IgG level, Short palpebral fissure, Generalized edema, Alopecia, Fair hair,... |
ORPHA:79330 |
| Spastic Ataxia-Corneal Dystrophy Syndrome |
|
Decreased circulating antibody level |
ORPHA:2572 |
| Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Preaxial polydactyly, Acetabular spurs, Femoral bowing, Short ribs, Postaxial polydactyly, Brachy... |
OMIM:615503 |
| Xq28 (MECP2) duplication |
|
Gastroesophageal reflux, Failure to thrive, Decreased circulating IgA level, Feeding difficulties... |
DECIPHER:45 |
| Ulna Metaphyseal Dysplasia Syndrome |
|
Aplasia/Hypoplasia of the radius, Abnormal hip bone morphology, Abnormal morphology of ulna, Abno... |
ORPHA:1837 |
| Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Anti-GAD65 antibody, Osteoporosis, Joint hypermobility |
OMIM:616033 |
| C1Q Deficiency 1 |
|
Decreased circulating complement factor I concentration, Autoimmunity, Membranoproliferative glom... |
OMIM:613652 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Reduced natural killer cell count, Restrictive cardiomyopathy, Endocardial fibroelastosis, Hypopl... |
OMIM:619313 |
| Hypophosphatemic Rickets, Autosomal Dominant |
|
Hypophosphatemic rickets, Rickets, Osteomalacia |
OMIM:193100 |
| Hyperparathyroidism 2 With Jaw Tumors |
|
Hyperparathyroidism, Parathyroid carcinoma, Pancreatic adenocarcinoma, Hypercalcemia, Recurrent p... |
OMIM:145001 |
| Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Iron deficiency anemia, Impaired platelet aggregation, Duodenal ulcer, Gastric ulcer, Esophageal ... |
OMIM:618372 |
| Ficolin 3 Deficiency |
|
Recurrent lower respiratory tract infections, Recurrent Staphylococcus aureus infections, Necroti... |
OMIM:613860 |
| Campomelic Dysplasia |
|
Delayed epiphyseal ossification, Hypoplastic scapulae, Hypoplastic cervical vertebrae, Shortening... |
OMIM:114290 |
| Atelosteogenesis Type Ii |
|
Hypoplastic cervical vertebrae, Elbow dislocation, Equinovarus deformity, Micrognathia, Genu valg... |
ORPHA:56304 |
| Poikiloderma With Neutropenia |
|
Recurrent otitis media, Micrognathia, Low posterior hairline, Telangiectasia, Neutropenia, Sparse... |
OMIM:604173 |
| Endocrine-Cerebroosteodysplasia |
|
Sandal gap, Micromelia, Preaxial polydactyly, Fibular bowing, Micrognathia, Cryptorchidism, Tibia... |
OMIM:612651 |
| Acquired Partial Lipodystrophy |
|
Decreased circulating complement C3 concentration, Autoimmunity, Lymphocytosis |
ORPHA:79087 |
| Forsythe-Wakeling Syndrome |
|
Osteoporosis, Thrombocytopenia |
OMIM:613606 |
| Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Bone marrow hypocellularity, Eczematoid dermatitis, Systemic lupus erythematosus, Leukopenia, Acu... |
OMIM:616871 |
| Osebold-Remondini Syndrome |
|
Mesomelia, Short tibia, Short toe, Type A brachydactyly, Radial deviation of finger, Carpal synos... |
OMIM:112910 |
| Erythroleukemia, Familial, Susceptibility To |
|
Erythroid hyperplasia, Splenomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Leukemia |
OMIM:133180 |
| Immune Dysregulation, Autoimmunity, And Autoinflammation |
|
Epistaxis, Increased circulating interleukin 8 concentration, Increased circulating interleukin 6... |
OMIM:620514 |
| Fetal Parvovirus Syndrome |
|
Anemia, Intrauterine growth retardation, Hypertrophic cardiomyopathy, Thrombocytopenia |
ORPHA:295 |
| Maternal Uniparental Disomy Of Chromosome 1 |
|
Cataract, Gastroesophageal reflux, Failure to thrive, Panhypogammaglobulinemia, Pancytopenia, Epi... |
ORPHA:251009 |
| Intermittent Hydrarthrosis |
|
Abnormality of the knee, Chondrocalcinosis, Joint swelling, Knee joint hypermobility |
ORPHA:329967 |
| Melnick-Needles Syndrome |
|
Short distal phalanx of finger, Hypoplastic scapulae, Flared metaphysis, Cone-shaped epiphyses of... |
OMIM:309350 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Stillbirth, Flared metaphysis, Extramedullary hematopoiesis, Cranial hyperostosis, Hepatosplenome... |
OMIM:259720 |
| Reticular Dysgenesis |
|
Diarrhea, Sepsis, Failure to thrive, Recurrent respiratory infections, Leukopenia, Malabsorption,... |
ORPHA:33355 |
| Acrorenal Syndrome |
|
Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Micrognathia, Abnormal morphology of... |
ORPHA:971 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Decreased circulating IgG level, Osteopenia, Diarrhea, Vomiting, Failure to thrive, Cardiomyopath... |
OMIM:212065 |
| Sinding-Larsen-Johansson Disease |
|
Painless fractures due to injury, Joint swelling, Osteochondrosis, Limitation of knee mobility, K... |
ORPHA:97337 |
| Systemic Lupus Erythematosus |
|
Nephritis, Systemic lupus erythematosus, Leukopenia, Malar rash, Antinuclear antibody positivity,... |
OMIM:152700 |
| Peutz-Jeghers Syndrome |
|
Intestinal bleeding, Gastrointestinal carcinoma, Intussusception, Bloody diarrhea, Neoplasm of th... |
OMIM:175200 |
| Mesomelic Dysplasia, Savarirayan Type |
|
High iliac wing, Elbow dislocation, Hypoplasia of proximal radius, Fibular aplasia, Glenoid fossa... |
ORPHA:85170 |
| Immunodeficiency 32B |
|
Pneumonia, Neutrophilia, Impaired oxidative burst, Abnormal circulating IgG level, Splenomegaly, ... |
OMIM:226990 |
| Fibular Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the fibula, Split hand, Abnormal morphology of ulna |
ORPHA:1118 |
| Monosomy 22 |
|
Finger syndactyly, Contractures of the large joints, Hepatosplenomegaly, Joint swelling, Epicanth... |
ORPHA:96123 |
| Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypermethioninemia, Decreased HDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemi... |
OMIM:605814 |
| Epilepsy-Telangiectasia Syndrome |
|
Decreased circulating IgA level, Decreased circulating antibody level |
ORPHA:1951 |
| Dubin-Johnson Syndrome |
|
Abnormality of the liver, Abnormal gastric mucosa morphology, Biliary tract abnormality, Hepatome... |
ORPHA:234 |
| Beta-Thalassemia Major |
|
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopituitarism,... |
ORPHA:231214 |
| Primary Biliary Cholangitis |
|
Hepatitis, Autoimmunity, Splenomegaly, Antinuclear antibody positivity, Increased circulating IgA... |
ORPHA:186 |
| Congenital Factor Xiii Deficiency |
|
Gingival bleeding, Inflammation of the large intestine, Prolonged bleeding after dental extractio... |
ORPHA:331 |
| Rh Deficiency Syndrome |
|
Stomatocytosis, Hepatosplenomegaly, Hyperbilirubinemia, Reticulocytosis, Reduced haptoglobin leve... |
ORPHA:71275 |
| Acrodysostosis |
|
Cryptorchidism, Bowing of the long bones, Abnormal metacarpal morphology, Abnormal morphology of ... |
ORPHA:950 |
| Dahlberg-Borer-Newcomer Syndrome |
|
Short distal phalanx of finger, Hypocalcemia, Hypothyroidism, Hypohidrosis, Brachydactyly, Hypopa... |
ORPHA:1563 |
| Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type |
|
Limb undergrowth, Limited elbow extension, Bowing of the legs |
ORPHA:156728 |
| Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Leukocytosis, Death in childhood, Splenomegaly, Death in infancy, Death in adolescence, Decreased... |
OMIM:618042 |
| Harderoporphyria |
|
Neonatal hyperbilirubinemia, Increased circulating ferritin concentration, Reticulocytosis, Splen... |
OMIM:618892 |
| Ectodermal Dysplasia And Immunodeficiency 1 |
|
Abnormal circulating IgG level, Dysgammaglobulinemia, Increased circulating IgA level, Reduced na... |
OMIM:300291 |
| Hyperimmunoglobulinemia D With Periodic Fever |
|
Limitation of joint mobility, Recurrent aphthous stomatitis, Peritonitis, Increased circulating I... |
ORPHA:343 |
| Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency |
|
Decreased proportion of memory B cells, Decreased specific anti-polysaccharide antibody level, De... |
ORPHA:70593 |
| Lyme Disease |
|
Atrioventricular block, Nausea and vomiting, Joint swelling, Infectious encephalitis, Arrhythmia,... |
ORPHA:91546 |
| Oculoskeletodental Syndrome |
|
Short 5th finger, Clinodactyly, Hypoplasia of the capital femoral epiphysis, Hypocalcemia, Metaph... |
ORPHA:557003 |
| Dyskeratosis Congenita, Digenic |
|
Decreased circulating IgG level, Alopecia, Gastroesophageal reflux, Oral leukoplakia, Failure to ... |
OMIM:620040 |
| Periodic Fever, Familial, Autosomal Dominant |
|
Gastrointestinal hemorrhage, Vomiting, Erysipelas, Polyarticular arthritis, Skin rash, Chronic co... |
OMIM:142680 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Recurrent infections, Osteopenia, Recurrent pneumonia, Failure to thrive, Decreased circulating I... |
OMIM:613327 |
| Rosaï-Dorfman Disease |
|
Anemia, Dysgammaglobulinemia, Lymphadenopathy |
ORPHA:158014 |
| Immunodeficiency 42 |
|
Hypoplasia of the thymus, Splenomegaly |
OMIM:616622 |
| Familial Afibrinogenemia |
|
Menometrorrhagia, Epistaxis, Gingival bleeding, Abnormal bleeding, Joint swelling, Cerebral hemor... |
ORPHA:98880 |
| Chondrodysplasia, Blomstrand Type |
|
Micromelia, Flared metaphysis, Stillbirth, Micrognathia, Short ribs, Generalized osteosclerosis, ... |
OMIM:215045 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Erlenmeyer flask deformity of the femurs, Craniofacial osteosclerosis, Increased skull ossificati... |
OMIM:618476 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Asplenia, Talipes equinovarus, Femoral bowing, Stillbirth |
OMIM:615415 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Postaxial foot polydactyly, Overlapping fingers, Cryptorchidism, Talipes equinovarus, Feeding dif... |
OMIM:301056 |
| Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Ulnar deviation of finger, Synostosis of carpal bones, Micromelia, Elbow dislocation, Abnormal ti... |
ORPHA:2634 |
| Rhizomelic Chondrodysplasia Punctata |
|
Rhizomelia, Abnormal epiphysis morphology, Limitation of joint mobility, Epiphyseal stippling, Li... |
ORPHA:177 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Hypoplastic scapulae, Increased circulating interleukin 8 concentration, Finger swelling, Prematu... |
OMIM:256040 |
| Muckle-Wells Syndrome |
|
Vasculitis, Camptodactyly of finger, Recurrent aphthous stomatitis, Pes cavus, Episcleritis, Skin... |
ORPHA:575 |
| Igg4-Related Dacryoadenitis And Sialadenitis |
|
Xerostomia, Increased circulating IgG4 level, Autoimmunity, Cytoplasmic antineutrophil antibody p... |
ORPHA:79078 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Diarrhea, Chronic lymphatic leukemia, Acute myeloid leukemia, Weight loss, Neutrophilia, Abdomina... |
ORPHA:98849 |
| Secondary Hypoparathyroidism Due To Impaired Parathormon Secretion |
|
Abnormality of the parathyroid gland, Abnormal circulating calcium concentration, Secondary hyper... |
ORPHA:140286 |
| Syndromic Diarrhea |
|
Hepatic fibrosis, Intractable diarrhea, Lymphopenia, Abnormality of the liver, Villous atrophy, S... |
ORPHA:84064 |
| Autoinflammatory Disease, Systemic, With Vasculitis |
|
Diarrhea, Hepatosplenomegaly, Abnormal circulating IgG level, Periorbital edema, Abdominal pain, ... |
OMIM:620376 |
| Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia |
OMIM:162830 |
| Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Coarse metaphyseal trabecularization, Death in childhood, Short ribs, Limb undergrowth, Brachydac... |
OMIM:618961 |
| Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
Sandal gap, Patellar hypoplasia, Hypoplasia of the lesser trochanter, Micrognathia, Patellar apla... |
OMIM:147891 |
| Diastrophic Dysplasia |
|
Ulnar deviation of finger, Abnormal epiphysis morphology, Micromelia, Elbow dislocation, Short fi... |
ORPHA:628 |
| Restrictive Dermopathy 2 |
|
Microretrognathia, Gastroesophageal reflux, Overtubulated long bones, Short clavicles, Rectal pro... |
OMIM:619793 |
| Refractory Celiac Disease |
|
Normocytic anemia, Protein-losing enteropathy, Inflammatory abnormality of the skin, Lymphoma, Je... |
ORPHA:398063 |
| Tyrosinemia Type 1 |
|
Rickets of the lower limbs |
ORPHA:882 |
| Multiple Myeloma |
|
Osteopenia, Pathologic fracture, Splenomegaly, Increased circulating IgA level, Anemia, Increased... |
ORPHA:29073 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Joint contracture of the hand, Decreased circulating dehydroepiandrosterone concentration, Carpal... |
OMIM:201750 |
| Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Atrophic gastritis, Cholelithiasis, Diarrhea, Chronic mucocutaneous candidiasis, Keratoconjunctiv... |
OMIM:240300 |
| Immunodeficiency 40 |
|
Focal active colitis, Recurrent pneumonia, Eosinophilic granuloma, Recurrent otitis media, Interm... |
OMIM:616433 |
| Intrinsic Factor And R Binder, Combined Congenital Deficiency Of |
|
Megaloblastic anemia, Absence of intrinsic factor |
OMIM:243320 |
| Parathyroid Carcinoma |
|
Hyperparathyroidism, Hypercalcemia, Parathyroid carcinoma |
OMIM:608266 |
| Hypercholanemia, Familial 1 |
|
Rickets |
OMIM:607748 |
| Juvenile Temporal Arteritis |
|
Allergic rhinitis, Conjunctivitis, Eosinophilia, Leukocytosis |
ORPHA:26137 |
| Acrocephalopolydactyly |
|
Genu recurvatum, Hepatosplenomegaly, Limb undergrowth, Brachydactyly, Short long bone |
ORPHA:221054 |
| Stuve-Wiedemann Syndrome 2 |
|
Eczematoid dermatitis, Stillbirth, Congestive heart failure, Neonatal death, Bowing of the long b... |
OMIM:619751 |
| Autoerythrocyte Sensitization Syndrome |
|
Impaired platelet adhesion, Gastrointestinal hemorrhage, Diarrhea, Vomiting, Epistaxis, Bruising ... |
ORPHA:324636 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Radial bowing, Micrognathia, ... |
OMIM:268310 |
| Pseudoachondroplasia |
|
Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Radial metaphyseal irregular... |
OMIM:177170 |
| Adams-Oliver Syndrome |
|
Cataract, Short distal phalanx of finger, Gastrointestinal hemorrhage, Alopecia, Finger syndactyl... |
ORPHA:974 |
| Atelosteogenesis Type I |
|
Rhizomelia, Joint dislocation, Abnormal pancreatic duct morphology, Absent or minimally ossified ... |
ORPHA:1190 |
| Dubowitz Syndrome |
|
Aplastic anemia, Velopharyngeal insufficiency, Megalocornea, Micrognathia, Cryptorchidism, Epican... |
OMIM:223370 |
| Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Allergic rhinitis, Osteopenia, Exocrine pancreatic insufficiency, Skin rash, Splenomegaly, Anemia... |
OMIM:612714 |
| Autosomal Dominant Kenny-Caffey Syndrome |
|
Hyperphosphatemia, Decreased testicular size, Hypocalcemic tetany, Abnormal circulating follicle-... |
ORPHA:93325 |
| Syndactyly Type 4 |
|
Toe syndactyly, Limitation of joint mobility, Short tibia, Camptodactyly of finger, Hand polydact... |
ORPHA:93405 |
| Squamous Cell Carcinoma Of The Anal Canal |
|
Anal stenosis, Intestinal bleeding, Neoplasm of the liver, Neoplasm of the rectum, Anal canal squ... |
ORPHA:424019 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 2 |
|
Abnormally low T cell receptor excision circle level, Bone marrow hypocellularity, Osteopenia, Ga... |
OMIM:617341 |
| Pseudohypoparathyroidism Type 2 |
|
Hyperphosphatemia, Elevated circulating parathyroid hormone level, Hypocalcemic tetany, Hypocalce... |
ORPHA:94090 |
| Hereditary Xanthinuria |
|
Rheumatoid arthritis, Gout, Arthropathy |
ORPHA:3467 |
| Femoral-Facial Syndrome |
|
Aplasia/Hypoplasia of the tibia, Abnormal pelvic girdle bone morphology, Preaxial foot polydactyl... |
ORPHA:1988 |
| Progressive Osseous Heteroplasia |
|
Limitation of joint mobility, Abnormality of the parathyroid gland, Ectopic ossification in muscl... |
ORPHA:2762 |
| Achondrogenesis Type 2 |
|
Hypoplastic ilia, Micromelia, Absent vertebral body mineralization, Delayed pubic bone ossificati... |
ORPHA:93296 |
| Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Increased circulating IgE level |
ORPHA:1858 |
| Eosinophilopenia |
|
Allergic rhinitis, Decreased eosinophil count, Autoimmunity |
OMIM:131430 |
| Hereditary Elliptocytosis |
|
Neonatal hyperbilirubinemia, Stomatocytosis, Hyperbilirubinemia, Abnormal erythrocyte morphology,... |
ORPHA:288 |
| Autoimmune Hypoparathyroidism |
|
Hyperphosphatemia, Hypocalcemic tetany, Autoimmune hypoparathyroidism, Hypocalcemia, Increased bo... |
ORPHA:36913 |
| Metatropic Dysplasia |
|
Coarse metaphyseal trabecularization, Micromelia, Abnormal enchondral ossification, Camptodactyly... |
ORPHA:2635 |
| Renal Tubular Acidosis, Proximal |
|
Rickets, Osteomalacia |
OMIM:179830 |
| Acrocapitofemoral Dysplasia |
|
Cone-shaped metacarpal epiphyses, Cone-shaped epiphysis, Abnormal femoral neck morphology, Microm... |
ORPHA:63446 |
| Immunodeficiency 87 And Autoimmunity |
|
Cholestasis, Lymphopenia, Decreased CD4:CD8 ratio, Hepatic steatosis, Hodgkin lymphoma, Hepatomeg... |
OMIM:619573 |
| Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Diarrhea, Intestinal obstruction, Recurrent pharyngitis, Periorbital edema, Abdominal pain, Vascu... |
ORPHA:32960 |
| Lymphangiectasia, Intestinal |
|
Decreased circulating IgG level, Lymphopenia |
OMIM:152800 |
| Autosomal Recessive Omodysplasia |
|
Rhizomelia, Micromelia, Elbow dislocation, Abnormal femur morphology, Micrognathia, Cryptorchidis... |
ORPHA:93329 |
| Coxoauricular Syndrome |
|
Abnormal pelvic girdle bone morphology, Micromelia, Abnormal femur morphology, Reduced bone miner... |
ORPHA:1508 |
| Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Increased circulating IgE level |
ORPHA:89843 |
| Holt-Oram Syndrome |
|
Hypoplastic scapulae, Short forearm, Radial bowing, Elbow dislocation, Micrognathia, Ulnar deviat... |
OMIM:142900 |
| Kid Syndrome |
|
Posterior blepharitis, Aplastic/hypoplastic lacrimal glands, Psoriasiform dermatitis, Delayed pub... |
ORPHA:477 |
| Infantile Myofibromatosis |
|
Limitation of joint mobility, Osteolysis, Abnormal metaphysis morphology, Bone cyst, Hypercalcemi... |
ORPHA:2591 |
| Glycoprotein Storage Disease |
|
Gout, Splenomegaly |
OMIM:232900 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Delayed epiphyseal ossification, Fibular overgrowth, Micromelia, Short femoral neck, Flared metap... |
OMIM:602557 |
| Postinfectious Vasculitis |
|
Pneumonia, Bacterial endocarditis, Abnormality of humoral immunity, Inflammatory abnormality of t... |
ORPHA:48435 |
| Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Generalized edema, Diarrhea, Vomiting, Pulmonary embolism, Intestinal lymphangiectasia, Ascites, ... |
OMIM:226300 |
| Cystic Fibrosis |
|
Recurrent pneumonia, Diarrhea, Failure to thrive, Meconium ileus, Male infertility, Exocrine panc... |
OMIM:219700 |
| Thyroid Hemiagenesis |
|
Hyperparathyroidism, Thyroid adenoma, Follicular thyroid carcinoma, Graves disease, Elevated circ... |
ORPHA:95719 |
| Hepatoportal Sclerosis |
|
Hypersplenism, Anticardiolipin IgM antibody positivity, Jaundice, Esophageal varix, Gastrointesti... |
ORPHA:64743 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Lentiglobus, Sparse scalp hair, Periodontitis, Osteomalacia, Micrognathia, Genu valgum, Cryptorch... |
ORPHA:534 |
| Ataxia-Pancytopenia Syndrome |
|
Acute myelomonocytic leukemia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Hypopl... |
ORPHA:2585 |
| Stevens-Johnson Syndrome |
|
Gastrointestinal hemorrhage, Diarrhea, Sepsis, Recurrent respiratory infections, Acute hepatic fa... |
ORPHA:36426 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Eczematoid dermatitis, Polyarticular arthritis, Exocrine pancreatic insufficiency, Hepatosplenome... |
OMIM:615952 |
| Diarrhea 8, Secretory Sodium, Congenital |
|
Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium, Abdominal distent... |
OMIM:616868 |
| Bartsocas-Papas Syndrome 1 |
|
Hypoplastic scapulae, Absent thumb, Short thumb, Bilateral cryptorchidism, Oligodactyly, Hypoplas... |
OMIM:263650 |
| Osteosclerosis With Ichthyosis And Premature Ovarian Failure |
|
Subperiosteal bone formation, Osteosclerosis of the base of the skull |
OMIM:609993 |
| Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Hypoplastic iliac wing, Enlarged epiphyses of the phalanges of the hand, Distal ulnar epiphyseal ... |
OMIM:609616 |
| Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Hematochezia, Gastrointestinal hemorrhage, Melena, Diffuse alveolar hemorrhage, Bloody diarrhea, ... |
ORPHA:464321 |
| Ataxia-Telangiectasia |
|
Abnormal hair morphology, Lymphopenia, Decreased proportion of CD4-positive helper T cells, Abnor... |
OMIM:208900 |
| Bile Acid Conjugation Defect 1 |
|
Rickets |
OMIM:619232 |
| Felty Syndrome |
|
Bone marrow hypocellularity, Recurrent pneumonia, Limitation of joint mobility, Abnormal joint mo... |
ORPHA:47612 |
| Trichothiodystrophy |
|
Cryptorchidism, Epicanthus, Neutropenia, Brittle hair, Clubbing, High, narrow palate, Osteopenia,... |
ORPHA:33364 |
| Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome |
|
Abnormal shoulder morphology, Micrognathia, Brachydactyly, Mesomelia |
ORPHA:1277 |
| Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
|
Equinovarus deformity, Short femoral neck, Flared metaphysis, Short palm, Broad foot, Aplasia/Hyp... |
ORPHA:2502 |
| Immunodeficiency With Hyper-Igm, Type 4 |
|
Impaired Ig class switch recombination, Autoimmune thrombocytopenia, Absence of lymph node germin... |
OMIM:608184 |
| Crimean-Congo Hemorrhagic Fever |
|
Gingival bleeding, Diarrhea, Morbilliform rash, Pancytopenia, Nausea and vomiting, Retinal hemorr... |
ORPHA:99827 |
| Alg12-Cdg |
|
Overlapping fingers, Micrognathia, Abnormal circulating IgG level, Cryptorchidism, Low posterior ... |
ORPHA:79324 |
| Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies |
|
Clinodactyly, Frontal upsweep of hair, Epicanthus, Pes planus, Narrow palpebral fissure, High pal... |
OMIM:620494 |
| Immunodeficiency, Common Variable, 13 |
|
Decreased circulating antibody level, Pancytopenia, Acute lymphoblastic leukemia, B lymphocytopenia |
OMIM:616873 |
| Ollier Disease |
|
Precocious puberty, Micromelia, Joint stiffness, Anemia, Abnormal metaphysis morphology, Osteolysis |
ORPHA:296 |
| Hypogonadotropic Hypogonadism 20 With Or Without Anosmia |
|
Osteoporosis, Osteopenia |
OMIM:615270 |
| Kyphomelic Dysplasia |
|
Limitation of joint mobility, Micromelia, Joint stiffness, Micrognathia, Bowing of the long bones... |
ORPHA:1801 |
| Hypophosphatasia, Childhood |
|
Elevated plasma pyrophosphate, Craniosynostosis, Bowing of the legs |
OMIM:241510 |
| Sodium-Dependent Multivitamin Transporter Deficiency |
|
Decreased circulating IgG level |
OMIM:618973 |
| Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Decreased hemoglobin concentration, Hyperbilirubinemia, Hemolytic anemia, Reticulocytosis |
ORPHA:713 |
| Acromesomelic Dysplasia 3 |
|
Aplasia of the proximal phalanx of the 2nd finger, Elevated circulating luteinizing hormone level... |
OMIM:609441 |
| Igg4-Related Submandibular Gland Disease |
|
Xerostomia, Increased circulating IgE level, Increased circulating IgG4 level, Reduced circulatin... |
ORPHA:449432 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Reduced natural killer cell count, Hemophagocytosis, Increased circulating ferritin concentration... |
ORPHA:158057 |
| Calciphylaxis |
|
Ectopic ossification, Hyperphosphatemia, Secondary hyperparathyroidism |
ORPHA:280062 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... |
ORPHA:251380 |
| Immunodeficiency 17 |
|
Abnormal B cell morphology, Eczematoid dermatitis, Chronic decreased circulating IgG2, Recurrent ... |
OMIM:615607 |
| Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Cataract, Alopecia, Malnutrition, Corneal scarring, Nail dystrophy, Mitten deformity, Abnormal es... |
OMIM:226600 |
| Multiple Endocrine Neoplasia Type 4 |
|
Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urinary cortiso... |
ORPHA:276152 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Hemophagocytosis, Erythroderma, Neutropenia, Reduced natural killer cell activity, Purpura, Incre... |
ORPHA:540 |
| Ulna Hypoplasia-Intellectual Disability Syndrome |
|
Mesomelia, Ulnar deviation of finger, Broad thumb, Micromelia, Elbow dislocation, Joint stiffness... |
ORPHA:2249 |
| Oculoskeletodental Syndrome |
|
Elbow flexion contracture, Hypercalcemia, Splenomegaly, Cryptorchidism, Hypocalcemia, Hypothyroid... |
OMIM:618440 |
| Cyclic Neutropenia |
|
Sepsis, Periodontitis, Opportunistic infection, Recurrent tonsillitis, Lymphopenia, Cyclic neutro... |
ORPHA:2686 |
| Pseudopseudohypoparathyroidism |
|
Pseudohypoparathyroidism, Brachydactyly, Osteoporosis, Short metatarsal, Short metacarpal |
OMIM:612463 |
| 22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
Abnormal heart morphology, T lymphocytopenia |
DECIPHER:16 |
| Mesomelic Dysplasia, Kantaputra Type |
|
Ulnar deviation of finger, Abnormality of the ankle, Synostosis of carpal bones, Camptodactyly of... |
ORPHA:1836 |
| Baller-Gerold Syndrome |
|
Lambdoidal craniosynostosis, Carpal synostosis, Micrognathia, Patellar aplasia, Aphalangy of the ... |
OMIM:218600 |
| Lassa Fever |
|
Facial edema, Menometrorrhagia, Diarrhea, Sepsis, Abnormal bleeding, Shock, Nausea and vomiting, ... |
ORPHA:99824 |
| Myopathy, Tubular Aggregate, 2 |
|
Ankle flexion contracture, Areflexia of lower limbs, Hypocalcemia, Elevated circulating creatine ... |
OMIM:615883 |
| Autosomal Dominant Dopa-Responsive Dystonia |
|
Rheumatoid arthritis, Hypothyroidism, Progressive flexion contractures |
ORPHA:98808 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia |
ORPHA:2643 |
| Achondrogenesis, Type Ia |
|
Unossified vertebral bodies, Hypoplastic scapulae, Abnormal femoral metaphysis morphology, Severe... |
OMIM:200600 |
| Lethal Faciocardiomelic Dysplasia |
|
Short 5th finger, Microretrognathia, Short tibia, Short thumb, Sandal gap, Radial club hand, Bila... |
ORPHA:1972 |
| Trimethylaminuria |
|
Anemia, Splenomegaly, Neutropenia |
OMIM:602079 |
| Otopalatodigital Syndrome Type 1 |
|
Increased bone mineral density, Abnormal vertebral segmentation and fusion, Limitation of joint m... |
ORPHA:90650 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Delayed epiphyseal ossification, Fibular overgrowth, Abnormal epiphysis morphology, Flared metaph... |
ORPHA:93352 |
| Lymphoproliferative Syndrome 2 |
|
Decreased lymphocyte proliferation in response to mitogen, Aplastic anemia, Hemophagocytosis, Asc... |
OMIM:615122 |
| Netherton Syndrome |
|
Increased circulating IgE level, Decreased circulating IgG level, Hypereosinophilia |
OMIM:256500 |
| Craniometaphyseal Dysplasia |
|
Craniofacial hyperostosis, Osteopetrosis |
ORPHA:1522 |
| Immune Thrombocytopenia |
|
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Hemorrhage of... |
ORPHA:3002 |
| Giant platelet syndrome with thrombocytopenia |
|
Gastrointestinal hemorrhage, Giant platelets, Bruising susceptibility, Prolonged bleeding after d... |
OMIM:137560 |
| Whipple Disease |
|
Uveitis, Diarrhea, Gastrointestinal hemorrhage, Hypotension, Anorexia, Malabsorption, Splenomegal... |
ORPHA:3452 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Osteopenia, Elevated circulating parathyroid hormone level, Hyperphosphatemia, Hypercalcemia, Met... |
OMIM:617994 |
| Acromesomelic Dysplasia, Maroteaux Type |
|
Joint stiffness, Joint hypermobility, Bowing of the long bones, Brachydactyly, Acromesomelia |
ORPHA:40 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Hyperparathyroidism, Hyperphosphatemia, Hyperostosis, Subperiosteal bone formation, Calcinosis, H... |
OMIM:211900 |
| Terminal Osseous Dysplasia |
|
Toe clinodactyly, Short toe, Clinodactyly, Camptodactyly of finger, Mesomelic leg shortening, Mul... |
OMIM:300244 |
| Familial Cold Autoinflammatory Syndrome 1 |
|
Leukocytosis, Skin rash, Arthritis, Conjunctivitis, Uveitis |
OMIM:120100 |
| Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature |
|
Decreased circulating total IgM |
OMIM:615139 |
| Aicardi-Goutieres Syndrome 6 |
|
Splenomegaly, Increased circulating Interferon-alpha concentration, Thrombocytopenia, Hepatomegal... |
OMIM:615010 |
| Aicardi-Goutieres Syndrome 7 |
|
Atrophic gastritis, Hematochezia, Pneumonia, Atopic dermatitis, Diarrhea, Hepatitis, Pancytopenia... |
OMIM:615846 |
| Mannosidosis, Alpha B, Lysosomal |
|
Vacuolated lymphocytes, Femoral bowing, Splenomegaly, Decreased circulating antibody level |
OMIM:248500 |
| Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Increased circulating IgE level |
OMIM:616069 |
| Bone Marrow Failure Syndrome 4 |
|
Bone marrow hypocellularity, Leukopenia, Thrombocytopenia, Anemia, Decreased circulating antibody... |
OMIM:618116 |
| Beemer-Ertbruggen Syndrome |
|
Increased bone mineral density |
ORPHA:1237 |
| Ring Chromosome 10 Syndrome |
|
Hypocalcemia, Micrognathia, Sandal gap, Tapered finger |
ORPHA:1438 |
| Congenital Disorder Of Glycosylation, Type Iib |
|
Hand clenching, Short palpebral fissure, Generalized edema, Long eyelashes, Decreased circulating... |
OMIM:606056 |
| Mast Cell Sarcoma |
|
Mastocytosis, Splenomegaly, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy |
ORPHA:66661 |
| Extensor Tendons Of Finger Anomalies |
|
Osteoporosis, Limitation of joint mobility, Camptodactyly of finger |
ORPHA:3294 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Hypoplastic ischia, Abnormal B cell morphology, Recurrent otitis media, Cryptorchidism, Polydacty... |
OMIM:616910 |
| Bloom Syndrome |
|
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Small for gestatio... |
OMIM:210900 |
| Ventriculomegaly With Defects Of The Radius And Kidney |
|
Bowed forearm bones, Forearm undergrowth, Absent thumb, Absent radius |
OMIM:602200 |
| Cryoglobulinemic Vasculitis |
|
Vasculitis, Gastrointestinal hemorrhage, Viral hepatitis, Gastrointestinal infarctions, Splenomeg... |
ORPHA:91138 |
| Dysosteosclerosis |
|
Craniofacial hyperostosis, Recurrent fractures, Coarse metaphyseal trabecularization, Increased b... |
ORPHA:1782 |
| Blau Syndrome |
|
Xerostomia, Limitation of joint mobility, Synovitis, Iridocyclitis, Abnormal retinal vascular mor... |
ORPHA:90340 |
| Dengue Fever |
|
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Diarrhea, Hypotension, Bruising suscep... |
ORPHA:99828 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Xerostomia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Anemia, Clubbing, Clubbing of fingers |
OMIM:175500 |
| Nievergelt Syndrome |
|
Genu valgum, Pes cavus, Talipes equinovarus, Radioulnar synostosis, Metatarsus adductus, Tarsal s... |
OMIM:163400 |
| Immunodeficiency 58 |
|
Allergic rhinitis, Molluscum contagiosum, Esophagitis, Dysphagia, Recurrent cutaneous abscess for... |
OMIM:618131 |
| Cutis Laxa, Autosomal Recessive, Type Ic |
|
Accessory spleen, Osteopenia, Recurrent pneumonia, Gastroesophageal reflux, Sandal gap, Tracheoma... |
OMIM:613177 |
| Immune Thrombocytopenia |
|
Abnormal bleeding, Thrombocytopenia |
OMIM:188030 |
| Orofaciodigital Syndrome Vi |
|
Toe syndactyly, Clinodactyly, Radial deviation of finger, Preaxial hand polydactyly, Preaxial foo... |
OMIM:277170 |
| Congenital Bile Acid Synthesis Defect Type 1 |
|
Gastrointestinal hemorrhage, Abnormal bleeding, Failure to thrive, Malabsorption, Splenomegaly, O... |
ORPHA:79301 |
| Inflammatory Pseudotumor Of The Liver |
|
Autoimmune antibody positivity, Increased hepatitis B virus antibody level |
ORPHA:90003 |
| Congenital Syphilis |
|
Periostitis, Extramedullary hematopoiesis, Hepatosplenomegaly, Tibial bowing, Synovitis, Pancreat... |
ORPHA:499009 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Small hand, Delayed cranial suture closure, Lymphopenia, Micrognathia, Cryptorchidism, Blepharoph... |
OMIM:620005 |
| Beta-Thalassemia Intermedia |
|
Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Anemia of inadequa... |
ORPHA:231222 |
| Hyperparathyroidism 1 |
|
Hypercalcemia, Primary hyperparathyroidism |
OMIM:145000 |
| Winchester Syndrome |
|
Generalized osteoporosis, Osteolysis involving tarsal bones, Carpal osteolysis, Arthropathy |
OMIM:277950 |
| Odontochondrodysplasia |
|
Cone-shaped epiphysis, Square pelvis bone, Micromelia, Death in infancy, Joint hypermobility, Bow... |
ORPHA:166272 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Hepatosplenomegaly, Mitral regurgitation, Epicanthus, Tachycardia, Hypertrophic cardiomyopathy, T... |
ORPHA:505248 |
| Avascular Necrosis Of Femoral Head, Primary, 1 |
|
Generalized osteoporosis |
OMIM:608805 |
| Insulinoma |
|
Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden... |
ORPHA:97279 |
| Eosinophilic Gastroenteritis |
|
Allergic rhinitis, Protein-losing enteropathy, Hematochezia, Atopic dermatitis, Diarrhea, Vomitin... |
ORPHA:2070 |
| C3 Glomerulopathy |
|
Paraproteinemia, Autoimmunity, Decreased circulating complement C4 concentration, Membranoprolife... |
ORPHA:329918 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Abnormal trabecular bone morphology, Decreased circulating IgG level, Decreased circulating IgA l... |
OMIM:612301 |
| Waldenström Macroglobulinemia |
|
Gingival bleeding, Diarrhea, Abnormal retinal vascular morphology, Anorexia, Periorbital edema, L... |
ORPHA:33226 |
| Cystic Fibrosis |
|
Osteopenia, Gastroesophageal reflux, Decreased body mass index, Failure to thrive, Meconium ileus... |
ORPHA:586 |
| Chikungunya |
|
Red eye, Gingival bleeding, Diarrhea, Crusting erythematous dermatitis, Synovitis, Erythema nodos... |
ORPHA:324625 |
| Anemia, Sideroblastic, 5 |
|
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia |
OMIM:619523 |
| Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Anemia, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia |
OMIM:608898 |
| Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Increased total bilirubin |
OMIM:174050 |
| Omenn Syndrome |
|
Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Lymphadenopathy, Thrombocytopenia, ... |
OMIM:603554 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2 |
|
Genu valgum, Carpal bone hypoplasia, Wind-swept deformity of the knees, Long proximal phalanx of ... |
OMIM:603546 |
| Factor Vii And Factor Viii, Combined Deficiency Of |
|
Intestinal bleeding |
OMIM:134430 |
| Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Lymphopenia, Eosinophilia, Limitation of joint mobility, Arthritis |
ORPHA:2582 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Acute pancreatitis, Recurrent pneumonia, Recurrent tonsillitis, Lymphadenitis, Eczematoid dermati... |
OMIM:618935 |
| Brucellosis |
|
Arteritis, Sacroiliac arthritis, Hypersplenism, Knee osteoarthritis, Glomerulonephritis, Endocard... |
ORPHA:1304 |
| Tempi Syndrome |
|
Increased hematocrit, Polycythemia, Increased circulating IgG level |
ORPHA:284227 |
| Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Epicanthus, High palate, Sparse hair, Rectal prolapse, Short metacarpal, Short palpebral fissure,... |
OMIM:617157 |
| Deafness, Autosomal Dominant 34, With Or Without Inflammation |
|
Conjunctivitis, Arthritis |
OMIM:617772 |
| Familial Visceral Myopathy |
|
Hyperparathyroidism, Camptodactyly of finger, Joint stiffness, Micrognathia, Arachnodactyly |
ORPHA:2604 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Diarrhea, Hepatosplenomegaly, Intestinal obstruction, Weight loss, Oligozoospermia, Dyspepsia, Ab... |
ORPHA:85450 |
| Glass Syndrome |
|
Micrognathia, Arachnodactyly, Talipes equinovarus, Camptodactyly, Generalized osteoporosis, Anter... |
OMIM:612313 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatosplenomegaly, Hypocalcemia, Splenomegaly, Hypercholesterolemia, Hypertriglyceridemia, Diabe... |
OMIM:612526 |
| Sepsis In Premature Infants |
|
Diarrhea, Decreased body weight, Neutropenia, Abdominal distention, Meningitis, Tachycardia, Purp... |
ORPHA:90051 |
| Osteogenesis Imperfecta |
|
Abnormal tibia morphology, Genu valgum, Micrognathia, Decreased skull ossification, Bowing of the... |
ORPHA:666 |
| Renal Tubular Acidosis Iii |
|
Rickets, Osteomalacia |
OMIM:267200 |
| Cholestasis-Lymphedema Syndrome |
|
Hyperlipidemia, Splenomegaly, Conjugated hyperbilirubinemia |
OMIM:214900 |
| Proteus Syndrome |
|
Mandibular hyperostosis, Facial hyperostosis, Splenomegaly, Multiple lipomas, Hemangioma, Thin bo... |
OMIM:176920 |
| Leishmaniasis |
|
Pancytopenia, Leukopenia, Splenomegaly, Abnormal macrophage morphology, Increased circulating ant... |
ORPHA:507 |
| Specific Granule Deficiency 2 |
|
Osteopenia, Recurrent pneumonia, Intractable diarrhea, Sepsis, Sandal gap, Failure to thrive, Rec... |
OMIM:617475 |
| Immunodeficiency 31C |
|
Protein-losing enteropathy, Osteopenia, Diarrhea, Eczematoid dermatitis, Chronic mucocutaneous ca... |
OMIM:614162 |
| Atelis Syndrome 1 |
|
Recurrent infections, Cataract, Eczematoid dermatitis, Decreased lymphocyte proliferation in resp... |
OMIM:620184 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Increased LDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemia, Hepatosplenomegal... |
ORPHA:247598 |
| Acquired Von Willebrand Syndrome |
|
Normocytic anemia, Aortic valve stenosis, Gastrointestinal hemorrhage, Hypochromic anemia, Aortic... |
ORPHA:99147 |
| Iron-Refractory Iron Deficiency Anemia |
|
Poikilocytosis, Elevated circulating hepcidin concentration, Hypochromic microcytic anemia, Aniso... |
OMIM:206200 |
| Biliary Atresia, Extrahepatic |
|
Unconjugated hyperbilirubinemia, Hyperbilirubinemia, Increased total bilirubin |
OMIM:210500 |
| Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Poikilocytosis, Oval macrocytosis, Anemia of inadequate production, Anisocytosis |
OMIM:603529 |
| Mesomelia-Synostoses Syndrome |
|
Synostosis of joints, Synostosis of carpal bones, Abnormal tibia morphology, Genu valgum, Microgn... |
ORPHA:2496 |
| Ganglioneuroma |
|
Gastrointestinal hemorrhage, Abnormal rectum morphology, Hypertension, Episodic abdominal pain, H... |
ORPHA:251992 |
| Hypermobile Ehlers-Danlos Syndrome |
|
Keratoconus, Limitation of joint mobility, Elbow dislocation, Nausea and vomiting, Decreased fert... |
ORPHA:285 |
| Kaposiform Lymphangiomatosis |
|
Fractures of the long bones, Osteolysis, Hepatosplenomegaly, Abnormal femur morphology, Splenomeg... |
ORPHA:464329 |
| Osteogenesis Imperfecta, Type Vi |
|
Bowing of the arm, Increased susceptibility to fractures, Joint hypermobility, Elevated circulati... |
OMIM:613982 |
| Congenital Factor V Deficiency |
|
Gingival bleeding, Hematochezia, Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding follo... |
ORPHA:326 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Sparse scalp hair, Recurrent otitis media, Internally rotated shoulders, Hepatosplenomegaly, Micr... |
OMIM:619503 |
| Noonan Syndrome 12 |
|
Atopic dermatitis, Anteriorly placed anus, Decreased response to growth hormone stimulation test,... |
OMIM:618624 |
| Müllerian Duct Anomalies-Limb Anomalies Syndrome |
|
Micromelia, Abnormality of the wrist, Short humerus, Hypothyroidism, Aplasia/Hypoplasia of the ul... |
ORPHA:2491 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Decreased proportion of memory B cells, Abnormal circulating interleukin concentration, Absence o... |
ORPHA:79124 |
| Autoinflammatory Disease, Familial, Behcet-Like 3 |
|
Ileitis |
OMIM:618287 |
| Toxic Epidermal Necrolysis |
|
Gastrointestinal hemorrhage, Sepsis, Recurrent respiratory infections, Acute hepatic failure, Mal... |
ORPHA:537 |
| Al Amyloidosis |
|
Xerostomia, Postural hypotension with compensatory tachycardia, Increased circulating antibody le... |
ORPHA:85443 |
| Avian Influenza |
|
Pneumonia, Myelitis, Diarrhea, Vomiting, Hepatitis, Sepsis, Congestive heart failure, Lymphopenia... |
ORPHA:454836 |
| Pseudohypoparathyroidism, Type Ii |
|
Hyperphosphatemia, Elevated circulating parathyroid hormone level, Hypocalcemia, Pseudohypoparath... |
OMIM:203330 |
| Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Increased circulating iron concentration, Erythroid hyperplasia, Hypochromia, Elevated hepatic ir... |
OMIM:206100 |
| Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Lower limb asymmetry, Pulmonary embolism, Congestive heart failure, ... |
ORPHA:90308 |
| Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmunity, Interstitial pneumonitis, Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in... |
ORPHA:231154 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos... |
OMIM:615631 |
| Bone Marrow Failure Syndrome 2 |
|
Anemia, Bone marrow hypocellularity, Leukopenia, Thrombocytopenia |
OMIM:615715 |
| Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Hyperparathyroidism, Hypercalcemia |
OMIM:239199 |
| Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Bone marrow hypocellularity, Osteopenia, Gastrointestinal hemorrhage, Aplastic anemia, Oral leuko... |
OMIM:613990 |
| Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Pituitary adenoma, Increased circulating cortisol level, Neuroendocrine neoplasm, Increased urina... |
ORPHA:189427 |
| Refractory Anemia |
|
Normocytic anemia, Bone marrow hypocellularity, Anemia of inadequate production, Macrocytic anemi... |
ORPHA:98826 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Cutaneous anergy, Absent natural killer cells, Decreased lymphocyte proliferation in response to ... |
OMIM:600802 |
| Classical Ehlers-Danlos Syndrome |
|
Mitral regurgitation, Chronic constipation, Epicanthus, Talipes equinovarus, Pes planus, Patellar... |
ORPHA:287 |
| Trichothiodystrophy 6, Nonphotosensitive |
|
Coronal craniosynostosis, Increased bone mineral density |
OMIM:616943 |
| Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Conjugated hyperbilirubinemia, Increased serum bile acid concentration |
OMIM:243300 |
| Verloove Vanhorick-Brubakk Syndrome |
|
Abnormal pelvic girdle bone morphology, Finger syndactyly, Abnormality of the parathyroid gland, ... |
ORPHA:3429 |
| Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Vomiting, Abnormal small intestinal mucosa morphology, Nausea, Chronic diarrhea, Decreased small ... |
ORPHA:103907 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Metaphyseal cupping of metacarpals, Rhizomelia, Metaphyseal cupping, Distal shortening of limbs, ... |
OMIM:300863 |
| Okur-Chung Neurodevelopmental Syndrome |
|
Decreased circulating IgG level, Highly arched eyebrow, Epicanthus inversus, Broad hallux, Failur... |
OMIM:617062 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Diarrhea, Protein-losing enteropathy, Vomiting, Villous atrophy |
OMIM:615863 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Bone marrow hypocellularity, Increased mean corpuscular volume, Pancytopenia, Acute myeloid leuke... |
OMIM:619041 |
| Polycythemia Vera |
|
Gastrointestinal hemorrhage, Budd-Chiari syndrome, Increased hematocrit, Cerebral hemorrhage, Cer... |
OMIM:263300 |
| Camptomelic Syndrome, Long-Limb Type |
|
Bowing of the long bones, Micromelia |
OMIM:211990 |
| O'Sullivan-Mcleod Syndrome |
|
Eosinophilia, Increased circulating antibody level |
ORPHA:99965 |
| Bernard-Soulier Syndrome |
|
Gingival bleeding, Gastrointestinal hemorrhage, Giant platelets, Decreased platelet glycoprotein ... |
ORPHA:274 |
| Prolidase Deficiency |
|
Recurrent pneumonia, Eczematoid dermatitis, Systemic lupus erythematosus, Splenomegaly, Increased... |
OMIM:170100 |
| Transcobalamin Ii Deficiency |
|
Decreased circulating IgG level, Decreased circulating IgA level, Pancytopenia, Macrocytic anemia... |
OMIM:275350 |
| Shwachman-Diamond Syndrome |
|
Recurrent viral infections, Aplastic anemia, Abnormal joint morphology, Hypopituitarism, Pancytop... |
ORPHA:811 |
| Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant |
|
Increased circulating IgE level |
OMIM:618985 |
| Faciocardiomelic Dysplasia, Lethal |
|
Short 5th finger, Radial deviation of the hand, Short thumb, Micrognathia, Single transverse palm... |
OMIM:227270 |
| Chromosome 15Q11.2 Deletion Syndrome |
|
Juvenile rheumatoid arthritis, Joint contracture, Elbow contracture |
OMIM:615656 |
| Epidermolysis Bullosa Acquisita |
|
Abnormal hair morphology, Abdominal pain, Inflammation of the large intestine, Nail dystrophy |
ORPHA:46487 |
| Pelviscapular Dysplasia |
|
Hypoplastic ilia, Hypoplastic scapulae, Congenital hip dislocation, Abnormality of the joint spac... |
ORPHA:93333 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Low posterior hairline, Epicanthus, Neutropenia, Clubbing, Hypertrophic cardiomyopathy, Long eyel... |
OMIM:617303 |
| Diamond-Blackfan Anemia 20 |
|
Erythroid hypoplasia, Anemia, Total anomalous pulmonary venous return |
OMIM:618313 |
| Schimke Immuno-Osseous Dysplasia |
|
Minimal change glomerulonephritis, Shallow acetabular fossae, Lymphopenia, Abnormal lymphocyte ph... |
ORPHA:1830 |
| Immunodeficiency 84 |
|
B-cell lymphoma, Perianal abscess, Splenomegaly, B lymphocytopenia |
OMIM:619437 |
| Sweet Syndrome |
|
Abnormal circulating interleukin concentration, Inflammation of the large intestine, Increased ci... |
ORPHA:3243 |
| Erythema Elevatum Diutinum |
|
Increased circulating antibody level |
ORPHA:90000 |
| Timothy Syndrome |
|
Hypothyroidism, Cutaneous syndactyly, Hypocalcemia |
OMIM:601005 |
| Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Bone marrow hypocellularity, Leukopenia, Nail dystrophy, Colitis, Decreased circulating antibody ... |
OMIM:615190 |
| Craniofaciofrontodigital Syndrome |
|
Aortic valve stenosis, Mitral regurgitation, Epicanthus, Arrhythmia, Persistent fetal circulation... |
ORPHA:363705 |
| Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Downslanted palpebral fissures, Decreased circulating IgA level, Large for gestational age, Crypt... |
ORPHA:457485 |
| Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Osteopenia, Cholelithiasis, Diarrhea, Rickets, Splenomegaly, Cirrhosis, Intrahepatic cholestasis ... |
OMIM:211600 |
| Diamond-Blackfan Anemia 9 |
|
Anemia |
OMIM:613308 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Abnormal epiphysis morphology, Reduced bone mineral density, Splenomegaly, Hypocalcemia, Bowing o... |
ORPHA:667 |
| Hypoparathyroidism, Familial Isolated, 1 |
|
Hyperphosphatemia, Hypocalcemia, Hypoparathyroidism, Hypocalcemic seizures, Decreased circulating... |
OMIM:146200 |
| Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome |
|
Osteoporosis, Wormian bones, Joint hypermobility |
ORPHA:2787 |
| Glycogen Storage Disease Vii |
|
Increased total bilirubin, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Reticulocyto... |
OMIM:232800 |
| Lipodystrophy, Generalized, With Impaired Intellectual Development, Deafness, Short Stature, And Slender Bones |
|
Abnormality of carpal bone ossification, Osteopenia, Failure to thrive, Delayed skeletal maturati... |
OMIM:608154 |
| Sarcoidosis |
|
Arrhythmia, Weight loss, Erythema nodosum, Tubulointerstitial nephritis, Dacryocystitis, Heart bl... |
ORPHA:797 |
| Immunodeficiency 47 |
|
Accessory spleen, Normocytic anemia, Decreased circulating total IgG, Chronic decreased circulati... |
OMIM:300972 |
| Bone Dysplasia, Lethal Holmgren Type |
|
Rhizomelia, Abnormal epiphysis morphology, Micromelia, Abnormal diaphysis morphology, Abnormal fe... |
ORPHA:1842 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Abnormally low T cell receptor excision circle level, Recurrent pneumonia, Eczematoid dermatitis,... |
OMIM:242700 |
| Congenital Disorder Of Glycosylation, Type Iik |
|
Osteoporosis, Thrombocytopenia, Joint hypermobility |
OMIM:614727 |
| Schinzel-Giedion Midface Retraction Syndrome |
|
Short distal phalanx of finger, Increased density of long bones, Short 1st metacarpal, Wide dista... |
OMIM:269150 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Giant cell hepatitis, Intrahepatic cholestasis, Diarrhea, Rickets, Splenomegaly, Hepatomegaly, Ci... |
OMIM:607765 |
| Spondylometaphyseal Dysplasia, A4 Type |
|
Limitation of joint mobility, Micromelia, Short palm, Coxa vara |
ORPHA:168555 |
| Thrombocytopenia, Paris-Trousseau Type |
|
Abnormal bleeding, Clinodactyly, Radial deviation of finger, Micrognathia, Ptosis, Thrombocytopen... |
OMIM:188025 |
| Coronary Artery Disease, Autosomal Dominant 2 |
|
Osteoporosis, Gout |
OMIM:610947 |
| Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Short 5th finger, Postaxial oligodactyly, Talipes equinovarus, Brachydactyly, Aplasia/Hypoplasia ... |
ORPHA:52056 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Hypoplastic scapulae, Short tibia, Thumb contracture, Hypoplastic iliac wing, Hepatosplenomegaly,... |
ORPHA:96334 |
| Myeloproliferative Syndrome, Transient |
|
Leukocytosis, Transient myeloproliferative syndrome |
OMIM:159595 |
| Kindler Epidermolysis Bullosa |
|
Cheilitis, Inflammation of the large intestine, Periodontitis, Finger syndactyly, Palmoplantar ke... |
ORPHA:2908 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Aplasia/hypoplasia involving bones of the extremities, Abnormal foot morphology, Upper limb under... |
ORPHA:94068 |
| Drug-Induced Autoimmune Hemolytic Anemia |
|
Autoimmune hemolytic anemia, Splenomegaly, Increased total bilirubin |
ORPHA:90037 |
| Williams Syndrome |
|
Synostosis of joints, Megalocornea, Micrognathia, Genu valgum, Nausea and vomiting, Cryptorchidis... |
ORPHA:904 |
| Tricho-Dento-Osseous Syndrome |
|
Increased bone mineral density |
ORPHA:3352 |
| Rasmussen Subacute Encephalitis |
|
Anti-dsDNA antibody positivity, Autoimmunity, Antinuclear antibody positivity, Decreased circulat... |
ORPHA:1929 |
| Burkitt Lymphoma |
|
Gastrointestinal hemorrhage, Abnormality of the ovary, Abnormality of the spleen, Decreased propo... |
ORPHA:543 |
| Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome |
|
Hypogonadism, Abnormal metacarpal morphology, Abnormal morphology of ulna, Abnormal testis morpho... |
ORPHA:2233 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Osteopetrosis |
OMIM:615085 |
| Rhizomelic Chondrodysplasia Punctata, Type 5 |
|
Metaphyseal cupping, Contractures of the large joints, Short femoral neck, Pes cavus, Short humer... |
OMIM:616716 |
| Idiopathic Hypercalciuria |
|
Osteoporosis, Osteopenia |
ORPHA:2197 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia |
ORPHA:231401 |
| Cranioectodermal Dysplasia 1 |
|
Short distal phalanx of finger, Rhizomelia, Short toe, Clinodactyly, Radial deviation of finger, ... |
OMIM:218330 |
| Pelger-Huet Anomaly |
|
Giant platelets, Eczematoid dermatitis, Short 3rd metacarpal, Upper limb undergrowth, Recurrent o... |
OMIM:169400 |
| Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Abnormal intestine morphology, Villous atrophy, Protracted diarrhea |
OMIM:251850 |
| Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Epiphyseal dysplasia, Congenital hip dislocation, Osteopenia, Micrognathia, Splenomegaly, Hypocal... |
OMIM:617913 |
| Desmoid Tumor |
|
Gastrointestinal hemorrhage, Sepsis, Limitation of joint mobility, Malabsorption, Intestinal poly... |
ORPHA:873 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypertrophic cardiomyopathy, Intrauterine growth retardation, Cryptorchidism, Cardiomegaly, Perim... |
OMIM:620135 |
| Inflammatory Bowel Disease 29 |
|
Ulcerative colitis, Crohn's disease |
OMIM:618077 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ... |
ORPHA:75564 |
| Griscelli Syndrome |
|
Iris hypopigmentation, Bone marrow hypocellularity, Silver-gray hair, Hepatitis, White hair, Prem... |
ORPHA:381 |
| Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Epiphyseal dysplasia, Recurrent infections, Hypoplasia of the capital femoral epiphysis, Lymphope... |
OMIM:617425 |
| Rothmund-Thomson Syndrome Type 1 |
|
Aplastic anemia, Patellar aplasia, Cryptorchidism, Neutropenia, Calcinosis, Leukemia, Short metac... |
ORPHA:221008 |
| Acromesomelic Dysplasia, Hunter-Thompson Type |
|
Abnormal pelvic girdle bone morphology, Abnormality of the ankle, Hip dislocation, Short thumb, E... |
ORPHA:968 |
| Inflammatory Bowel Disease 28, Autosomal Recessive |
|
Hematochezia, Folliculitis, Pyoderma, Crohn's disease, Perianal abscess, Enterocolitis, Colitis |
OMIM:613148 |
| Gaucher Disease Type 1 |
|
Splenic infarction, Osteopenia, Pathologic fracture, Hepatosplenomegaly, Pancytopenia, Hypersplen... |
ORPHA:77259 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Pneumonia, Decreased lymphocyte proliferation in response to mitogen, Eczematoid dermatitis, Auto... |
ORPHA:83471 |
| Multiple Osteochondromas |
|
Limitation of joint mobility, Abnormal tibia morphology, Abnormal hand morphology, Limited hip mo... |
ORPHA:321 |
| Dermatitis, Atopic |
|
Allergic rhinitis, Atopic dermatitis, Keratoconus, Cataract, Eczematoid dermatitis, Conjunctiviti... |
OMIM:603165 |
| Hereditary Folate Malabsorption |
|
Cheilitis, Diarrhea, Gastroesophageal reflux, Failure to thrive, Recurrent respiratory infections... |
ORPHA:90045 |
| Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Parathyroid agenesis, Congenital hypoparathyroid... |
ORPHA:2239 |
| Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Hypochromic anemia, Cryptorchidism, Anemia of inadequate production, Anisocytosis, Poikilocytosis... |
ORPHA:67044 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Decreased mean platelet volume, Hematochezia, Inflammation of the large intestine, Recurrent pneu... |
OMIM:617718 |
| Leukocyte Adhesion Deficiency |
|
Lymphocytic interstitial pneumonia, Impaired neutrophil chemotaxis, Acute myeloid leukemia, Glome... |
ORPHA:2968 |
| Dysspondyloenchondromatosis |
|
Lower limb asymmetry, Genu valgum, Metaphyseal enchondromatosis, Generalized joint hypermobility,... |
ORPHA:85198 |
| Diamond-Blackfan Anemia 12 |
|
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Ventricular septal defect, Ret... |
OMIM:615550 |
| Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
|
Hypoplastic scapulae, Rhizomelia, Flared metaphysis, Delayed ossification of pubic rami, Microgna... |
OMIM:602471 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Hepatosplenomegaly, Overlapping fingers, Radioulnar synostosis, Limited pronation/supination of f... |
OMIM:616738 |
| Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Stillbirth, Advanced tarsal ossification, Short ribs, Limb undergrowth, Dum... |
OMIM:269250 |
| Hypocalcemia, Autosomal Dominant 2 |
|
Abnormal blood phosphate concentration, Hypocalcemia |
OMIM:615361 |
| Ruvalcaba Syndrome |
|
Small hand, Micromelia, Limited elbow extension, Cryptorchidism, Short phalanx of finger, Delayed... |
OMIM:180870 |
| Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypermagnesemia, Osteomalacia, Hypophosphatemia, Pancreatitis, Hypercalcemia, Primary hyperparath... |
OMIM:600740 |
| Caffey Disease |
|
Cortical irregularity, Periosteal thickening of long tubular bones, Increased circulating antibod... |
ORPHA:1310 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Broad thumb, Finger syndactyly, Tibial torsion, Absent radius, Fibular aplasia, Micrognathia, Apl... |
ORPHA:3320 |
| Bleeding Disorder, Platelet-Type, 9 |
|
Bruising susceptibility, Thrombocytopenia |
OMIM:614200 |
| Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Hypoplasia of the odontoid process, Broad long bones, Broad phalanx, Flat acetabular roof, Short ... |
OMIM:300106 |
| Aspergillosis |
|
Increased circulating IgE level, Eosinophilia, Neutropenia |
ORPHA:1163 |
| Pseudoleprechaunism Syndrome, Patterson Type |
|
Delayed skeletal maturation, Long foot, Metaphyseal sclerosis, Genu valgum, Delayed pubic bone os... |
ORPHA:2976 |
| Urban-Rogers-Meyer Syndrome |
|
Camptodactyly of finger, Increased circulating IgE level, Osteoporosis, Recurrent fractures, Flex... |
ORPHA:3409 |
| Popliteal Cyst |
|
Abnormality of the knee, Joint swelling |
OMIM:175750 |
| Secondary Short Bowel Syndrome |
|
Diarrhea, Vomiting, Volvulus, Cholestasis, Villous atrophy, Abnormal small intestine morphology, ... |
ORPHA:95427 |
| Pyloric Atresia |
|
Congenital pyloric atresia |
OMIM:265950 |
| Hypoparathyroidism, Familial Isolated, 2 |
|
Hyperphosphatemia, Hypocalcemic seizures, Decreased circulating parathyroid hormone level, Hypoca... |
OMIM:618883 |
| Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Decreased circulating parathyroid hormone level, Increased circulating beta-C-terminal telopeptid... |
ORPHA:157215 |
| Achondroplasia |
|
Rhizomelia, Hip joint hypermobility, Trident hand, Limited elbow extension, Knee joint hypermobil... |
ORPHA:15 |
| Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hypocalcemia, Splenomegaly, Elevated circulating gamma-aminobutyric acid concentration |
OMIM:619658 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Decreased lymphocyte proliferation in response to mitogen, Cerebral vasculitis, Impaired T cell f... |
OMIM:613179 |
| Inflammatory Bowel Disease 13 |
|
Inflammation of the large intestine |
OMIM:612244 |
| Inflammatory Bowel Disease (Crohn Disease) 19 |
|
Inflammation of the large intestine |
OMIM:612278 |
| Alkaptonuria |
|
Aortic valve stenosis, Joint dislocation, Joint stiffness, Reduced bone mineral density, Thickene... |
ORPHA:56 |
| Wolfram Syndrome 2 |
|
Peptic ulcer, Abnormal bleeding, Oligomenorrhea, Primary amenorrhea, Decreased circulating antibo... |
OMIM:604928 |
| Igg4-Related Thyroid Disease |
|
Graves disease, Anti-thyroglobulin antibody positivity, Increased circulating IgG4 level, Autoimm... |
ORPHA:64744 |
| Hepatic Veno-Occlusive Disease |
|
Increased total bilirubin |
ORPHA:890 |
| Somatomammotropinoma |
|
Increased circulating prolactin concentration, Pituitary prolactin cell adenoma, Mitral regurgita... |
ORPHA:314769 |
| Microlissencephaly-Micromelia Syndrome |
|
Abnormal circulating calcium-phosphate regulating hormone concentration, Micromelia, 11 pairs of ... |
ORPHA:50810 |
| Immunodeficiency 69 |
|
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Thrombocytosis, A... |
OMIM:618963 |
| Isolated Polycystic Liver Disease |
|
Increased total bilirubin |
ORPHA:2924 |
| Schwartz-Jampel Syndrome, Type 1 |
|
Joint contracture of the hand, Micrognathia, Hip contracture, Bowing of the long bones, Talipes e... |
OMIM:255800 |
| Typhoid |
|
Epistaxis, Gastrointestinal hemorrhage, Diarrhea, Skin rash, Splenomegaly, Infectious encephaliti... |
ORPHA:99745 |
| Schimke Immunoosseous Dysplasia |
|
Shallow acetabular fossae, Lymphopenia, Pancytopenia, Abnormal immunoglobulin level, Talipes equi... |
OMIM:242900 |
| Congenital Short Bowel Syndrome |
|
Congenital shortened small intestine, Decreased intestinal transit time, Vomiting, Intestinal mal... |
OMIM:615237 |
| Von Willebrand Disease, Type 1 |
|
Aortic valve stenosis, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Prolonged... |
OMIM:193400 |
| Hamamy Syndrome |
|
Osteopenia, Hypochromic anemia, Short 2nd finger, Microcytic anemia, Micrognathia, Cryptorchidism... |
OMIM:611174 |
| Craniosynostosis With Fibular Aplasia |
|
Craniosynostosis, Fibular aplasia, Cryptorchidism, Single transverse palmar crease |
OMIM:218550 |
| Sickle Cell Anemia |
|
Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo... |
ORPHA:232 |
| Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Downslanted palpebral fissures, Intestinal malrotation, Genu valgum, Frontal upsweep of hair, Cry... |
OMIM:617798 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Colitis, Obesity, Craniosynostosis |
ORPHA:88643 |
| Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Foot acroosteolysis, Abnormality of the ankle, Abnormal cortical bone morphology, Wormian bones, ... |
ORPHA:970 |
| Greenberg Dysplasia |
|
Fractured rib, Postaxial foot polydactyly, Supernumerary vertebral ossification centers, Hepatosp... |
OMIM:215140 |
| Aicardi-Goutieres Syndrome 5 |
|
Increased circulating interferon-gamma concentration, Chilblains, Arthropathy, Feeding difficulti... |
OMIM:612952 |
| Cutaneous Photosensitivity And Colitis, Lethal |
|
Colitis, Diarrhea |
OMIM:219095 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Rhizomelia, Hypertension, Thrombocytopenia |
OMIM:166990 |
| Neutropenia, Severe Congenital, 10, Autosomal Recessive |
|
Anemia, Thrombocytopenia, Neutropenia, Monocytosis |
OMIM:620534 |
| Autosomal Recessive Spastic Paraplegia Type 71 |
|
Abnormal myelination |
ORPHA:401840 |
| Aregenerative Anemia |
|
Bone marrow hypocellularity, Abnormal circulating interleukin concentration, Fatigable weakness o... |
ORPHA:101096 |
| Trichothiodystrophy 1, Photosensitive |
|
Intestinal obstruction, Telangiectasia, Erythroderma, Brittle hair, Sparse hair, Cataract, Microc... |
OMIM:601675 |
| Bleeding Disorder, Platelet-Type, 17 |
|
Epistaxis, Gastrointestinal hemorrhage, Increased RBC distribution width, Bruising susceptibility... |
OMIM:187900 |
| Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Increased bone mineral density, Osteopetrosis |
OMIM:617306 |
| Acromegaly |
|
Pituitary prolactin cell adenoma, Mitral regurgitation, Broad foot, Dysmenorrhea, Generalized hir... |
ORPHA:963 |
| Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Abnormal femoral torsion, Tibial torsion, Long foot, Long hallux, Transient neutropenia, Abnormal... |
ORPHA:500095 |
| Babesiosis |
|
Hepatic failure, Limitation of joint mobility, Congestive heart failure, Leukopenia, Nausea and v... |
ORPHA:108 |
| Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly |
OMIM:618852 |
| Pelvic Organ Prolapse, Susceptibility To |
|
Rectal prolapse, Bowel incontinence |
OMIM:176780 |
| Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Congenital shortened small intestine, Vomiting, Intestinal pseudo-obstruction, Intestinal malrota... |
OMIM:300048 |
| Angioma, Hereditary Neurocutaneous |
|
Gastrointestinal hemorrhage, Horner syndrome |
OMIM:106070 |
| Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Inflammation of the large intestine, Diarrhea, Recurrent aphthous stomatitis, Intestinal obstruct... |
OMIM:266600 |
| Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Normocytic anemia, Pneumonia, Macular edema, Gastrointestinal hemorrhage, Sepsis, Cardiomyopathy,... |
ORPHA:247691 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Inflammatory abnormality of the skin, Diarrhea, Lymphopenia, Hepatosplenomegaly, Abnormal circula... |
ORPHA:391487 |
| Late-Onset Isolated Acth Deficiency |
|
Normocytic anemia, Type I diabetes mellitus, Pituitary adenoma, Graves disease, Adrenocorticotrop... |
ORPHA:199299 |
| Preeclampsia/Eclampsia 1 |
|
Hypertension, Edema, Thrombocytopenia |
OMIM:189800 |
| Bleeding Disorder, Platelet-Type, 19 |
|
Anemia, Macrothrombocytopenia, Thrombocytopenia |
OMIM:616176 |
| Blau Syndrome |
|
Cataract, Uveitis, Nongranulomatous uveitis, Band keratopathy, Eczematoid dermatitis, Flexion con... |
OMIM:186580 |
| Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Joint contracture of the hand, Limitation of joint mobility, Micromelia, Equinovarus deformity, B... |
OMIM:224400 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
High, narrow palate, Osteopenia, Gastroesophageal reflux, Restrictive cardiomyopathy, Slender lon... |
ORPHA:369837 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 3 |
|
Gastrointestinal hemorrhage, Recurrent fractures, Feeding difficulties |
OMIM:620368 |
| Papa Syndrome |
|
Limitation of joint mobility, Crohn's disease, Increased inflammatory response, Increased circula... |
ORPHA:69126 |
| Female Infertility Due To Oocyte Meiotic Arrest |
|
Abnormal meiosis, Female infertility, Oocyte arrest at metaphase I |
ORPHA:488191 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Delayed epiphyseal ossification, Metaphyseal cupping, Micromelia, Wide distal femoral metaphysis,... |
OMIM:613320 |
| Multiple Endocrine Neoplasia Type 1 |
|
Increased serum serotonin, Increased circulating cortisol level, Pituitary prolactin cell adenoma... |
ORPHA:652 |
| Florid Cemento-Osseous Dysplasia |
|
Abnormal trabecular bone morphology, Multiple bony cystic lesions, Mandibular osteomyelitis, Abno... |
ORPHA:83451 |
| Acute Myelomonocytic Leukemia |
|
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia |
ORPHA:517 |
| Mirage Syndrome |
|
Aspiration pneumonia, Radial club hand, Lymphopenia, Overlapping fingers, Cryptorchidism, Decreas... |
OMIM:617053 |
| Folate Malabsorption, Hereditary |
|
Diarrhea, Failure to thrive, Leukopenia, Folate-responsive megaloblastic anemia, Malabsorption, F... |
OMIM:229050 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Mandibular osteomyelitis, Cranial hyperostosis, Osteomyelitis, Osteopetrosis, Decreased osteoclas... |
OMIM:259710 |
| Spondyloepiphyseal Dysplasia, Kimberley Type |
|
Abnormal epiphysis morphology, Micromelia, Osteoarthritis |
ORPHA:93283 |
| Immunodeficiency 19 |
|
Abnormal B cell morphology, T lymphocytopenia, Abnormal natural killer cell morphology |
OMIM:615617 |
| Multiple Intestinal Atresia |
|
Gastrointestinal atresia, Duodenal stenosis |
ORPHA:2300 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Protein-losing enteropathy, Diarrhea, Vomiting, Failure to thrive, Decreased liver function, Asci... |
OMIM:608104 |
| Lipoyltransferase 1 Deficiency |
|
Hyperprolinemia, Hyperglutaminemia, Increased total bilirubin |
OMIM:616299 |
| Riddle Syndrome |
|
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Diarrhea, Recurrent viral infect... |
ORPHA:420741 |
| Renal Tubular Acidosis, Distal, 1 |
|
Osteomalacia, Pathologic fracture, Elevated circulating creatinine concentration, Hypocalcemia, H... |
OMIM:179800 |
| Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes |
|
Bowing of the legs, Brachydactyly, Premature pubarche, Lower limb undergrowth |
OMIM:612847 |
| Monosomy 18Q |
|
Aortic valve stenosis, Secondary growth hormone deficiency, Failure to thrive, Delayed skeletal m... |
ORPHA:1600 |
| Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Neonatal hyperbilirubinemia |
ORPHA:3363 |
| Rhizomelic Syndrome, Urbach Type |
|
Short distal phalanx of finger, Rhizomelia, Abnormal epiphysis morphology, Limitation of joint mo... |
ORPHA:3098 |
| Budd-Chiari Syndrome |
|
Gastrointestinal hemorrhage, Ascites, Gastrointestinal infarctions, Acute hepatic failure, Malabs... |
ORPHA:131 |
| 5-Oxoprolinase Deficiency |
|
Diarrhea, Abdominal pain, Vomiting, Enterocolitis |
OMIM:260005 |
| Coffin-Lowry Syndrome |
|
Highly arched eyebrow, Bifid sternum, Narrow palate, Coarse hair, Delayed skeletal maturation, Do... |
OMIM:303600 |
| Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Increased bone mineral density, Thin bony cortex |
ORPHA:85184 |
| Hypereosinophilic Syndrome, Idiopathic |
|
Restrictive cardiomyopathy, Splenomegaly, Eosinophilia, Hepatomegaly, Myeloproliferative disorder |
OMIM:607685 |
| Progeroid Short Stature With Pigmented Nevi |
|
Allergic rhinitis, Cataract, Aortic valve stenosis, Vomiting, Recurrent viral infections, Impaire... |
OMIM:176690 |
| Rothmund-Thomson Syndrome Type 2 |
|
Aplastic anemia, Patellar aplasia, Cryptorchidism, Aplasia/hypoplasia involving bones of the uppe... |
ORPHA:221016 |
| Microscopic Polyangiitis |
|
Vasculitis, Uveitis, Diarrhea, Gastrointestinal hemorrhage, Epistaxis, Congestive heart failure, ... |
ORPHA:727 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Pancreatic lymphangiectasis, Micrognathia, Cryptorchidism, Splenomegaly, Hypocalcemia, Thyroid ly... |
OMIM:235255 |
| Hydrops Fetalis, Nonimmune |
|
Anemia |
OMIM:236750 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Highly arched eyebrow, Short distal phalanx of finger, Short toe, Anteriorly placed anus, Abnorma... |
OMIM:239300 |
| Gollop-Wolfgang Complex |
|
Aplasia/Hypoplasia of the tibia, Bifid femur, Ectrodactyly, Aplasia/Hypoplasia of the ulna, Hand ... |
ORPHA:1986 |
| Listeriosis |
|
Arteritis, Diarrhea, Abscess, Pustule, Abdominal pain, Meningitis, Endocarditis, Unusual CNS infe... |
ORPHA:533 |
| Image Syndrome |
|
Micromelia, Hypogonadism, Cryptorchidism, Adrenal hypoplasia, Metaphyseal dysplasia |
ORPHA:85173 |
| Coproporphyria, Hereditary |
|
Vomiting, Diarrhea, Increased fecal coproporphyrin 3, Splenomegaly, Increased fecal coproporphyri... |
OMIM:121300 |
| Axial Spondylometaphyseal Dysplasia |
|
Flattened femoral head, Abnormal ilium morphology, Osteopenia, Aplasia/Hypoplasia of the vertebra... |
ORPHA:168549 |
| Multiple Endocrine Neoplasia, Type Iv |
|
Hyperparathyroidism, Pituitary adenoma, Hashimoto thyroiditis, Hypothyroidism, Carcinoid tumor, E... |
OMIM:610755 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Osteopenia, Erlenmeyer flask deformity of the femurs, Hypersplenism, Splenomegaly, Ptosis, Thromb... |
OMIM:610539 |
| Familial Cold Urticaria |
|
Nausea and vomiting, Abdominal pain, Arthritis, Conjunctivitis, Dehydration |
ORPHA:47045 |
| Cholestasis-Lymphedema Syndrome |
|
Gastrointestinal hemorrhage, Portal hypertension, Splenomegaly, Neonatal cholestatic liver diseas... |
ORPHA:1414 |
| Sézary Syndrome |
|
Abnormal lymphocyte morphology, Splenomegaly, Abnormal immunoglobulin level, Lymphadenopathy, Hep... |
ORPHA:3162 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Decre... |
ORPHA:508533 |
| Anemia, Sideroblastic, 1 |
|
Sideroblastic anemia, Hypochromic microcytic anemia, Anemia of inadequate production, Macrocytic ... |
OMIM:300751 |
| Neutropenia, Severe Congenital, 8, Autosomal Dominant |
|
Exocrine pancreatic insufficiency, Abnormal immunoglobulin level, Neutropenia |
OMIM:618752 |
| Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Epistaxis, Giant platelets, Leukocyte inclusion bodies, Abnormal bleeding, Bruising susceptibilit... |
OMIM:155100 |
| Acute Promyelocytic Leukemia |
|
Gingival bleeding, Pancytopenia, Chronic infection, Metrorrhagia, Weight loss, Neutropenia, Anore... |
ORPHA:520 |
| Pendred Syndrome |
|
Hyperparathyroidism, Hypothyroidism, Thyroid carcinoma, Goiter |
ORPHA:705 |
| Achondrogenesis, Type Ib |
|
Hypoplastic ilia, Micromelia, Absent or minimally ossified vertebral bodies, Short ribs, Stillbirth |
OMIM:600972 |
| Pseudomyxoma Peritonei |
|
Inflammation of the large intestine, Ascites, Nausea and vomiting, Intestinal obstruction, Consti... |
ORPHA:26790 |
| Inflammatory Bowel Disease 3 |
|
Ulcerative colitis |
OMIM:604519 |
| Inflammatory Bowel Disease 21 |
|
Ulcerative colitis |
OMIM:612354 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Increased total ... |
OMIM:267700 |
| Hereditary Spherocytosis |
|
Spontaneous hemolytic crises, Increased mean corpuscular hemoglobin concentration, Extramedullary... |
ORPHA:822 |
| Diffuse Alveolar Hemorrhage |
|
Antineutrophil antibody positivity, Autoimmunity, Leukocytosis, Antiphospholipid antibody positiv... |
ORPHA:90060 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Osteopenia, Pathologic fracture, Increased susceptibility to fractures, Tibial bowing, Joint hype... |
OMIM:259770 |
| Hypoplastic Femurs And Pelvis |
|
Hypoplastic pelvis, Short femur |
OMIM:619545 |
| Occipital Horn Syndrome |
|
Synostosis of joints, Osteomalacia, Humerus varus, Genu valgum, Pes planus, Abnormal fibula morph... |
ORPHA:198 |
| Lead Poisoning |
|
Abnormality of humoral immunity, Imbalanced hemoglobin synthesis, Increased circulating IgE level... |
ORPHA:330015 |
| Bleeding Disorder, Platelet-Type, 16 |
|
Platelet anisocytosis, Giant platelets, Thrombocytopenia, Anemia, Macrothrombocytopenia |
OMIM:187800 |
| Formiminoglutamic Aciduria |
|
Anemia, Megaloblastic anemia, Atrial septal defect |
ORPHA:51208 |
| Ck Syndrome |
|
High palate, Abnormal cortical bone morphology, Joint hypermobility |
OMIM:300831 |
| Congenital Tufting Enteropathy |
|
Cholestatic liver disease, Vomiting, Secretory diarrhea, Abnormal large intestinal mucosa morphol... |
ORPHA:92050 |
| Polymyositis |
|
Vasculitis, Gastrointestinal hemorrhage, Chondrocalcinosis, Gastroesophageal reflux, Abnormal atr... |
ORPHA:732 |
| Medullary Thyroid Carcinoma |
|
Elevated circulating calcitonin concentration, Pheochromocytoma, Medullary thyroid carcinoma, Hyp... |
ORPHA:1332 |
| Zollinger-Ellison Syndrome |
|
Hyperparathyroidism, Thyroid adenoma, Pituitary adenoma, Increased circulating cortisol level, Pi... |
ORPHA:913 |
| Juvenile Polyposis Syndrome |
|
Abnormal onset of bleeding, Diarrhea, Colon cancer, Stomach cancer, Juvenile gastrointestinal pol... |
ORPHA:2929 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Increased bone mineral density, Delayed patellar ossification, Abnormal bone ossification |
ORPHA:163649 |
| Diffuse Cutaneous Mastocytosis |
|
Gastrointestinal hemorrhage, Diarrhea, Vomiting, Hypotension, Malnutrition, Abnormality of the sp... |
ORPHA:79456 |
| Hypotrichosis Simplex Of The Scalp |
|
Increased circulating IgE level |
ORPHA:90368 |
| Q Fever |
|
Hepatosplenomegaly, Increased circulating antibody level, Lupus anticoagulant, Antiphospholipid a... |
ORPHA:781 |
| Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Recurrent pneumonia, Downslanted palpebral fissures, Microcytic anemia, Hypertrichosis, Hepatospl... |
OMIM:619750 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Hypoplastic ilia, Limitation of joint mobility, Micromelia, Broad long bones, Clubbing of fingers... |
ORPHA:1865 |
| Premature Ovarian Failure 2B |
|
Osteoporosis |
OMIM:300604 |
| Jeune Syndrome |
|
Abnormal pelvic girdle bone morphology, Toe syndactyly, Postaxial foot polydactyly, Cone-shaped e... |
ORPHA:474 |
| Hermansky-Pudlak Syndrome 2 |
|
Periodontitis, Enlarged platelet dense granules, Recurrent otitis media, Hepatosplenomegaly, Decr... |
OMIM:608233 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Bone marrow hypocellularity, Acute leukemia, Prolonged bleeding time, Bruising susceptibility, Ly... |
ORPHA:3226 |
| Oocyte/Zygote/Embryo Maturation Arrest 9 |
|
Abnormality of the menstrual cycle, Oocyte arrest at metaphase I, Female infertility |
OMIM:619011 |
| Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia |
|
Patellar hypoplasia, Hypogonadism, Micrognathia, Transient hypogammaglobulinemia of infancy, Recu... |
OMIM:251240 |
| 22Q11.2 Deletion Syndrome |
|
Micrognathia, Cryptorchidism, Arachnodactyly, Epicanthus, Posterior embryotoxon, Talipes equinova... |
ORPHA:567 |
| Immunodeficiency 91 And Hyperinflammation |
|
Neutrophilia, Recurrent pneumonia, Hemophagocytosis, Failure to thrive, Severe viral infection, A... |
OMIM:619644 |
| Intrinsic Factor Deficiency |
|
Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Increased RBC distributio... |
OMIM:261000 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Equinovarus deformity, Pes cavus, Equinus calcaneus, Hypocalcemia, Decreased patellar reflex, Hyp... |
ORPHA:746 |
| Igg4-Related Kidney Disease |
|
Inflammatory abnormality of the skin, Lymphadenitis, Arteritis, Increased circulating IgE level, ... |
ORPHA:449395 |
| Congenital Disorder Of Glycosylation, Type Iic |
|
Pneumonia, Reduction of neutrophil motility, Periodontitis, Recurrent otitis media, Neutrophilia |
OMIM:266265 |
| Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia |
|
Flexion contracture, Congenital pyloric atresia |
OMIM:612138 |
| Sneddon Syndrome |
|
Decreased circulating total IgM, Lymphopenia |
OMIM:182410 |
| Malignant Atrophic Papulosis |
|
Gastrointestinal hemorrhage, Gastrointestinal infarctions, Pleural effusion, Constrictive pericar... |
OMIM:602248 |
| Gastrointestinal Stromal Tumor |
|
Gastrointestinal hemorrhage, Neoplasm of the colon, Nausea and vomiting, Skin rash, Intestinal ob... |
ORPHA:44890 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Inflammation of the large intestine, Diarrhea, Periodontitis, Xanthelasma, Prolonged bleeding fol... |
ORPHA:79259 |
| Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Mesomelia, Osteopenia, Rhizomelia, Decreased circulating IgG level, Small epiphyses, Congenital h... |
OMIM:271510 |
| Kawasaki Disease |
|
Diarrhea, Nausea and vomiting, Arrhythmia, Recurrent pharyngitis, Abdominal pain, Meningitis, Vas... |
ORPHA:2331 |
| Acheiropodia |
|
Abnormal epiphysis morphology, Fibular aplasia, Absent hand, Short humerus, Upper limb phocomelia... |
ORPHA:931 |
| Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type |
|
Clinodactyly of the 2nd finger, Micrognathia, Pes planus, Diaphyseal undertubulation, Patellar di... |
OMIM:620663 |
| Oocyte/Zygote/Embryo Maturation Arrest 4 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:617743 |
| Oocyte/Zygote/Embryo Maturation Arrest 2 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:616780 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hematochezia, Inflammation of the large intestine, Dilated cardiomyopathy, Lymphadenitis, Eczemat... |
OMIM:615895 |
| Radiation Proctitis |
|
Hematochezia, Diarrhea, Arteritis, Sepsis, Tenesmus, Abnormal rectum morphology, Intestinal obstr... |
ORPHA:70475 |
| Diamond-Blackfan Anemia 11 |
|
Finger aplasia, Bone marrow hypocellularity, Absent thumb, Unilateral radial aplasia, Anemia of i... |
OMIM:614900 |
| Oocyte/Zygote/Embryo Maturation Arrest 14 |
|
Female infertility, Oocyte maturation arrest |
OMIM:620276 |
| Oocyte/Zygote/Embryo Maturation Arrest 5 |
|
Female infertility, Lack of oocyte pronucleus formation |
OMIM:617996 |
| Interstitial Lung Disease 2 |
|
Increased circulating antibody level |
OMIM:178500 |
| Dohle Bodies And Leukemia |
|
Anemia, Acute myeloid leukemia, Secundum atrial septal defect, Leukocyte inclusion bodies |
OMIM:223350 |
| Fanconi Anemia, Complementation Group G |
|
Leukemia, Anemia, Neutropenia, Thrombocytopenia |
OMIM:614082 |
| Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Secondary growth hormone deficiency, Increased circulating gonadotropin level, Osteoporosis, Redu... |
ORPHA:2410 |
| Multicentric Reticulohistiocytosis |
|
Histiocytosis, Arthritis |
ORPHA:139436 |
| Chronic Intestinal Pseudoobstruction |
|
Intestinal malrotation, Abnormal platelet morphology, Abnormal intestine morphology, Pyloric sten... |
ORPHA:2978 |
| Mandibulofacial Dysostosis With Macroblepharon And Macrostomia |
|
Keratitis, Downslanted palpebral fissures, Recurrent otitis media, Thick eyebrow, Micrognathia, L... |
OMIM:602562 |
| Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hyperparathyroidism, Hypermagnesemia, Pancreatitis, Parathyroid adenoma, Hypercalcemia |
OMIM:145980 |
| Warburg-Cinotti Syndrome |
|
Symblepharon, Ankle flexion contracture, Elbow flexion contracture, Corneal neovascularization, J... |
OMIM:618175 |
| Behçet Disease |
|
Nausea and vomiting, Mitral regurgitation, Weight loss, Anorexia, Abdominal pain, Meningitis, End... |
ORPHA:117 |
| Viss Syndrome |
|
Sparse scalp hair, Increased circulating IgE level, Recurrent joint dislocation, Micrognathia, Ge... |
OMIM:619472 |
| Venous Malformations, Multiple Cutaneous And Mucosal |
|
Intestinal bleeding |
OMIM:600195 |
| Pediatric Systemic Lupus Erythematosus |
|
Discoid lupus rash, Antineutrophil antibody positivity, Nephritis, Microangiopathic hemolytic ane... |
ORPHA:93552 |
| Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Aplasia/Hypoplasia of the radius, Absent thumb, Short tibia, Delayed skeletal maturation, Cryptor... |
OMIM:612447 |
| Acheiropody |
|
Lower limb peromelia, Absent forearm, Short tibia, Absent radius, Fibular aplasia, Absent hand, C... |
OMIM:200500 |
| Microsporidiosis |
|
Lymphadenitis, Abnormality of the spleen, Decreased proportion of CD4-positive helper T cells, Ke... |
ORPHA:2552 |
| Syndromic Recessive X-Linked Ichthyosis |
|
Abnormal stomach morphology, Acute leukemia, Testicular seminoma |
ORPHA:281090 |
| 2P21 Microdeletion Syndrome |
|
Hypogonadism, Hypocalcemia |
ORPHA:163693 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Diarrhea, Abdominal pain, Meningitis, Intestinal perforation, Pleural empyema, Abnormal circulati... |
ORPHA:544482 |
| Mpi-Cdg |
|
Protein-losing enteropathy, Gastrointestinal hemorrhage, Diarrhea, Vomiting, Failure to thrive, D... |
ORPHA:79319 |
| Prieto Syndrome |
|
Osteoporosis, Patellar subluxation, Patellar dislocation |
OMIM:309610 |
| Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency |
|
Increased circulating IgE level, Eosinophilia |
ORPHA:2314 |
| Hyaline Fibromatosis Syndrome |
|
Osteopenia, Progressive flexion contractures, Osteoporosis, Flexion contracture, Osteolysis |
OMIM:228600 |
| Shwachman-Diamond Syndrome 1 |
|
Proximal femoral epiphysiolysis, Delayed skeletal maturation, Persistence of hemoglobin F, Exocri... |
OMIM:260400 |
| Bilateral Striopallidodentate Calcinosis |
|
Subcutaneous hemorrhage, Thrombocytopenia, Corneal opacity |
ORPHA:1980 |
| Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Patchy osteosclerosis, Osteopenia, Diaphyseal cortical sclerosis, Fractures of the long bones, Pa... |
OMIM:112250 |
| Nijmegen Breakage Syndrome-Like Disorder |
|
Decreased circulating antibody level |
OMIM:613078 |
| Primary Sjögren Syndrome |
|
Arteritis, Xerostomia, Lymphopenia, Decreased proportion of CD4-positive helper T cells, Increase... |
ORPHA:289390 |
| Oocyte/Zygote/Embryo Maturation Arrest 10 |
|
Female infertility |
OMIM:619176 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Delayed epiphyseal ossification, Widened greater sciatic notch, Talipes equinovarus, Flat acetabu... |
OMIM:250220 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abnormal CD4:CD8 ratio, Splenomegaly, Abscess, Lymphadenopathy, Neutropenia, B lymphocytopenia, I... |
OMIM:150550 |
| Dent Disease |
|
Delayed epiphyseal ossification, Renal hypophosphatemia, Rickets, Bulging epiphyses, Osteomalacia... |
ORPHA:1652 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Elevated circulating parathyroid hormone level, Pancreatic adenocarcinoma, Abnormal parathyroid m... |
ORPHA:99880 |
| Crouzon Syndrome |
|
Multiple suture craniosynostosis, Ptosis, Conjunctivitis, Narrow palate, Iris coloboma |
ORPHA:207 |
| Thanatophoric Dysplasia, Type Ii |
|
Small abnormally formed scapulae, Hypoplastic ilia, Micromelia, Flared metaphysis, Short ribs, Ne... |
OMIM:187601 |
| Lig4 Syndrome |
|
Failure to thrive, Pancytopenia, Psoriasiform dermatitis, Plantar warts, Astigmatism, Chronic sin... |
OMIM:606593 |
| Acromesomelic Dysplasia 2B |
|
Deformed tarsal bones, Rhizomelia, Deviation of finger, Talipes equinovalgus, Fibular aplasia, Ma... |
OMIM:228900 |
| Bone Marrow Failure Syndrome 6 |
|
Bone marrow hypocellularity, Osteopenia, Increased mean corpuscular volume, Persistence of hemogl... |
OMIM:618849 |
| X-Linked Hypophosphatemia |
|
Limitation of joint mobility, Genu valgum, Bowing of the long bones, Tooth abscess, Hypophosphate... |
ORPHA:89936 |
| Hyperparathyroidism, Primary, Caused By Water Clear Cell Hyperplasia |
|
Primary hyperparathyroidism |
OMIM:600166 |
| Gorham-Stout Disease |
|
Osteopenia, Pathologic fracture, Osteomyelitis, Cortical irregularity, Osteolysis involving bones... |
ORPHA:73 |
| Neuronal Intestinal Pseudoobstruction |
|
Decreased circulating antibody level, Patent ductus arteriosus, Abnormal cardiac septum morphology |
ORPHA:99811 |
| Sapho Syndrome |
|
Inflammation of the large intestine, Craniofacial osteosclerosis, Osteomyelitis, Psoriasiform der... |
ORPHA:793 |
| Diarrhea 9 |
|
Diarrhea, Villous atrophy |
OMIM:618168 |
| Granulomatosis With Polyangiitis |
|
Nausea and vomiting, Intestinal obstruction, Prostatitis, Weight loss, Arrhythmia, Periorbital ed... |
ORPHA:900 |
| Amoebiasis Due To Entamoeba Histolytica |
|
Diarrhea, Protracted diarrhea, Bloody diarrhea, Congestive heart failure, Leukocytosis, Pleural e... |
ORPHA:67 |
| Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Rickets |
OMIM:602722 |
| Rothmund-Thomson Syndrome |
|
Abnormal trabecular bone morphology, Osteopenia, Aplasia/Hypoplasia of the radius, Aplastic anemi... |
ORPHA:2909 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Elbow dislocation, Abnormality of the spleen, Esophagitis, Amelia, Perineal fistula, Abnormal met... |
ORPHA:2538 |
| Oocyte/Zygote/Embryo Maturation Arrest 21 |
|
Female infertility |
OMIM:620610 |
| Oocyte/Zygote/Embryo Maturation Arrest 13 |
|
Female infertility |
OMIM:620154 |
| Bartter Syndrome, Type 1, Antenatal |
|
Hyperparathyroidism, Osteopenia, Hyperchloriduria, Increased serum prostaglandin E2, Hypomagnesem... |
OMIM:601678 |
| Prader-Willi Syndrome Due To Imprinting Mutation |
|
Small hand, Narrow palm, Hypogonadotropic hypogonadism, Short foot, Abnormal ulnar metaphysis mor... |
ORPHA:177910 |
| Hyperprolactinemia |
|
Menorrhagia, Oligomenorrhea, Female infertility, Increased circulating prolactin concentration |
OMIM:615555 |
| Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Increased circulating IgE level |
OMIM:614328 |
| Brachydactyly, Type A1, C |
|
Short distal phalanx of finger, Short 1st metacarpal, Short middle phalanx of the 2nd finger, Fib... |
OMIM:615072 |
| Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Bone marrow hypocellularity, Reduced natural killer cell count, Inflammation of the large intesti... |
OMIM:620133 |
| Parathyroid Carcinoma |
|
Elevated circulating parathyroid hormone level, Parathyroid carcinoma, Pancreatic adenocarcinoma,... |
ORPHA:143 |
| Bone Marrow Failure Syndrome 3 |
|
Aplastic anemia, Persistence of hemoglobin F, Pancytopenia, Micrognathia, Cryptorchidism, Epicant... |
OMIM:617052 |
| Oocyte/Zygote/Embryo Maturation Arrest 12 |
|
Female infertility |
OMIM:619697 |
| Fetal And Neonatal Alloimmune Thrombocytopenia |
|
Gastrointestinal hemorrhage, Neonatal alloimmune thrombocytopenia, Abnormal bleeding, Spontaneous... |
ORPHA:853 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Pneumonia, Antineutrophil antibody positivity, Osteopenia, Periodontitis, Aplastic anemia, Lympho... |
ORPHA:486 |
| Lipodystrophy-Intellectual Disability-Deafness Syndrome |
|
Osteopenia, Failure to thrive, Dense metaphyseal bands, Slender build, Slender long bones with na... |
ORPHA:50811 |
| Blue Rubber Bleb Nevus |
|
Intestinal bleeding, Volvulus, Microcytic anemia, Gastrointestinal infarctions, Skin rash, Prolon... |
ORPHA:1059 |
| Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Angel-shaped phalanx, Short distal phalanx of finger, Sandal gap, Cone-shaped epiphyses of the ph... |
OMIM:617102 |
| Holocarboxylase Synthetase Deficiency |
|
Perioral eczema, Alopecia, Eczematoid dermatitis, Nausea and vomiting, Keratoconjunctivitis, Weig... |
ORPHA:79242 |
| Trichohepatoenteric Syndrome 2 |
|
Sparse hair, Diarrhea, Small for gestational age, Failure to thrive, Trichorrhexis nodosa, Villou... |
OMIM:614602 |
| Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Dislocation of the femoral h... |
OMIM:616007 |
| Isolated Glycerol Kinase Deficiency |
|
Osteoporosis |
ORPHA:408 |
| Ethylene Glycol Poisoning |
|
Nausea, Gastritis, Vomiting |
ORPHA:31826 |
| Bile Acid Malabsorption, Primary, 1 |
|
Steatorrhea, Increased fecal bile acid, Fat malabsorption, Chronic diarrhea |
OMIM:613291 |
| Camurati-Engelmann Disease |
|
Limitation of joint mobility, Abnormal tibia morphology, Genu valgum, Pes planus, Metaphyseal dys... |
ORPHA:1328 |
| Familial Hypofibrinogenemia |
|
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Abnormal bleeding |
ORPHA:101041 |
| Familial Dysfibrinogenemia |
|
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Abnormal bleeding |
ORPHA:98881 |
| Congenital Factor Vii Deficiency |
|
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Intracranial ... |
ORPHA:327 |
| Relapsing Fever |
|
Increased total bilirubin, Elevated circulating creatinine concentration, Leukopenia, Leukocytosi... |
ORPHA:91547 |
| X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome |
|
Osteoporosis, Patellar subluxation |
ORPHA:2958 |
| Aicardi-Goutieres Syndrome 3 |
|
Hepatosplenomegaly, Chilblains, Thrombocytopenia |
OMIM:610329 |
| Vipoma |
|
Follicular thyroid carcinoma, Pituitary adenoma, Increased circulating cortisol level, Increased ... |
ORPHA:97282 |
| Achondrogenesis Type 1A |
|
Abnormal enchondral ossification, Micromelia, Micrognathia, Short foot, Recurrent fractures, Shor... |
ORPHA:93299 |
| Usmani-Riazuddin Syndrome, Autosomal Recessive |
|
Conjunctival hyperemia, Epicanthus, High palate, Joint hypermobility |
OMIM:619548 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Epistaxis, Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leuk... |
OMIM:612840 |
| Multiple Endocrine Neoplasia, Type Iia |
|
Thyroid C cell hyperplasia, Hyperparathyroidism, Increased circulating cortisol level, Pheochromo... |
OMIM:171400 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Small hand, Shallow acetabular fossae, Giant platelets, Micrognathia, Cryptorchidism, Talipes equ... |
OMIM:611209 |
| Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Shortening of all phalanges of fingers, Limb undergrowth, Shortening of all metacarpals, Bilatera... |
OMIM:601356 |
| Bleeding Disorder, Platelet-Type, 21 |
|
Alopecia, Recurrent viral infections, Abnormal bleeding, Eczematoid dermatitis, Psoriasiform derm... |
OMIM:617443 |
| Diamond-Blackfan Anemia 21 |
|
Micrognathia, Genu valgum, Pes planus, Clinodactyly of the thumb, Aortic regurgitation, Short toe... |
OMIM:620072 |
| Platyspondylic Dysplasia, Torrance Type |
|
Short distal phalanx of finger, Hypoplastic scapulae, Metaphyseal cupping, Micromelia, Hypoplasia... |
ORPHA:85166 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8 |
|
Nodular regenerative hyperplasia of liver, Increased mean corpuscular volume, Portal hypertension... |
OMIM:620367 |
| Pallister-Hall Syndrome |
|
Toe syndactyly, Broad thumb, Radial bowing, Hypopituitarism, Polydactyly affecting the 4th finger... |
ORPHA:672 |
| Glycogen Storage Disease Xii |
|
Normocytic anemia, Hyperbilirubinemia, Splenomegaly, Reduced haptoglobin level, Elevated circulat... |
OMIM:611881 |
| Alg8-Cdg |
|
Cataract, Diarrhea, Vomiting, Failure to thrive, Ascites, Feeding difficulties, Oligohydramnios, ... |
ORPHA:79325 |
| Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Finger aplasia, Absent thumb, Proximal radial head dislocation, Micrognathia, Hypoplasia of the r... |
OMIM:602418 |
| Heme Oxygenase 1 Deficiency |
|
Epistaxis, Diffuse alveolar hemorrhage, Cervical lymphadenopathy, Hypertension, Hepatomegaly, Lym... |
OMIM:614034 |
| Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Rhizomelia, Annular pancreas, Elbow contracture, Irregular epiphyses, Sclerosis of skull base, De... |
OMIM:618162 |
| Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis |
OMIM:617441 |
| Neurodevelopmental Disorder With Epilepsy And Brain Atrophy |
|
Osteoporosis, Recurrent aspiration pneumonia |
OMIM:619971 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6 |
|
Abnormally low T cell receptor excision circle level, Bone marrow hypocellularity, Lymphopenia, P... |
OMIM:619767 |
| Anemia, Congenital Dyserythropoietic, Type Ii |
|
Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis |
OMIM:224100 |
| Premature Ovarian Failure 19 |
|
Irregular menstruation, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea |
OMIM:619245 |
| Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia |
OMIM:206400 |
| Congenital Factor Xi Deficiency |
|
Epistaxis, Gastrointestinal hemorrhage, Abnormal bleeding, Prolonged bleeding after dental extrac... |
ORPHA:329 |
| Atypical Hemolytic Uremic Syndrome |
|
Decreased circulating complement factor B concentration, Abnormality of complement system, Microa... |
ORPHA:2134 |
| Majeed Syndrome |
|
Osteomyelitis, Increased susceptibility to fractures, Synovitis, Increased bone mineral density, ... |
ORPHA:77297 |
| Primary Ciliary Dyskinesia |
|
Recurrent mycobacterial infections, Abnormal sperm motility, Female infertility, Polysplenia, Rec... |
ORPHA:244 |
| Bleeding Disorder, Platelet-Type, 25 |
|
Bruising susceptibility, Excessive bleeding from superficial cuts, Prolonged bleeding after denta... |
OMIM:620486 |
| Bacterial Toxic-Shock Syndrome |
|
Diarrhea, Abscess, Glomerulonephritis, Abdominal pain, Meningitis, Recurrent skin infections, Tac... |
ORPHA:36234 |
| Microcephaly-Micromelia Syndrome |
|
Absent thumb, Short tibia, Micromelia, Oligodactyly, Micrognathia, Humeroradial synostosis, Neona... |
OMIM:251230 |
| Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
Epiphyseal dysplasia, Type I diabetes mellitus, Shortening of all middle phalanges of the fingers... |
OMIM:226980 |
| Hypomagnesemia 3, Renal |
|
Elevated circulating parathyroid hormone level, Rickets, Hyperphosphatemia, Increased circulating... |
OMIM:248250 |
| Bronchogenic Cyst |
|
Pneumonia, Abnormal stomach morphology, Abnormal esophagus morphology, Abnormal peritoneum morpho... |
ORPHA:2357 |
| Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Hypermethioninemia, Elevated circulating S-adenosyl-L-homocysteine concentration, Hyperbilirubine... |
OMIM:614300 |
| Congenital Disorder Of Glycosylation, Type Iir |
|
Decreased liver function, Ascites, Micrognathia, Decreased proportion of CD4-positive T cells, Re... |
OMIM:301045 |
| Nijmegen Breakage Syndrome |
|
Diarrhea, Recurrent otitis media, Micrognathia, Recurrent bronchitis, Epicanthus, Premature ovari... |
OMIM:251260 |
| Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Atopic dermatitis, Recurrent viral infections, Failure to thrive, Hepatosplenomegaly, Colonic eos... |
OMIM:618999 |
| Familial Isolated Hypoparathyroidism |
|
Hypoparathyroidism, Abnormal circulating calcium-phosphate regulating hormone concentration, Hypo... |
ORPHA:2238 |
| Mucolipidosis Ii Alpha/Beta |
|
Bullet-shaped phalanges of the hand, Hypoplastic scapulae, Hypoplasia of the odontoid process, Li... |
OMIM:252500 |
| Combined Deficiency Of Factor V And Factor Viii |
|
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Prolonged bleeding following circumcis... |
ORPHA:35909 |
| Microcephaly, Short Stature, And Limb Abnormalities |
|
Patellar hypoplasia, 11 pairs of ribs, Patellar aplasia, Radioulnar synostosis, Brachydactyly, Hy... |
OMIM:617604 |
| Rothmund-Thomson Syndrome, Type 1 |
|
Recurrent otitis media, Osteoporosis, Hypothyroidism |
OMIM:618625 |
| Keratosis Follicularis Spinulosa Decalvans, X-Linked |
|
Sparse eyebrow, Folliculitis, Keratitis, Palmoplantar keratoderma, Corneal dystrophy, Nail dystro... |
OMIM:308800 |
| Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Osteopenia, Abnormal pelvic girdle bone morphology, Rhizomelia, Stippled calcification proximal h... |
OMIM:222765 |
| Fetal Gaucher Disease |
|
Stillbirth, Abnormality of the spleen, Pancytopenia, Splenomegaly, Intracranial hemorrhage, Neona... |
ORPHA:85212 |
| Achondrogenesis Type 1B |
|
Abnormal enchondral ossification, Micromelia, Micrognathia, Talipes equinovarus, Short foot |
ORPHA:93298 |
| Acrodermatitis Enteropathica |
|
Alopecia, Failure to thrive, Abnormal eyebrow morphology, Furrowed tongue, Malabsorption, Chronic... |
ORPHA:37 |
| Lymphedema-Hypoparathyroidism Syndrome |
|
Hypoparathyroidism, Increased carrying angle, Brachydactyly |
OMIM:247410 |
| Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Periodontitis, Elbow dislocation, Micrognathia, Cryptorchidism, Arachnodactyly, Pes planus, High ... |
ORPHA:536532 |
| Recon Progeroid Syndrome |
|
Red eye, Long thumb, Joint hypermobility, Arachnodactyly, Hirsutism, Keratoconjunctivitis sicca, ... |
OMIM:620370 |
| Orofaciodigital Syndrome Type 10 |
|
Polysyndactyly of hallux, Radial deviation of the hand, Short tibia, Short toe, Preaxial polydact... |
ORPHA:2756 |
| Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Abnormal bleeding, Lymphedema, Lymphopenia, Malabsorption, Abnormal hair quantity, Clinodactyly o... |
ORPHA:1116 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Short 5th finger, Toe clinodactyly, Hyperbilirubinemia, Absent gallbladder, Cryptorchidism, Bulbo... |
ORPHA:163979 |
| Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Small pituitary gland, Osteopenia, Decreased testicular size, Genu valgum, Cryptorchidism, Osteop... |
OMIM:614880 |
| Tumoral Calcinosis, Normophosphatemic, Familial |
|
Conjunctivitis |
OMIM:610455 |
| Gray Platelet Syndrome |
|
Epistaxis, Abnormality of thrombocytes, Bruising susceptibility, Abnormal bleeding, Abnormality o... |
ORPHA:721 |
| Pyle Disease |
|
Genu valgum, Limited elbow extension, Cubitus valgus, Thin bony cortex, Reduced bone mineral density |
OMIM:265900 |
| Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Rickets |
OMIM:219900 |
| Hydatidiform Mole, Recurrent, 3 |
|
Female infertility |
OMIM:618431 |
| Hydatidiform Mole, Recurrent, 4 |
|
Female infertility |
OMIM:618432 |
| Polycythemia Vera |
|
Early satiety, Gingival bleeding, Acute leukemia, Gastrointestinal hemorrhage, Pulmonary embolism... |
ORPHA:729 |
| Classic Hodgkin Lymphoma |
|
Bone marrow hypocellularity, Lymphoma, Neoplasm, Skin rash, Splenomegaly, Lymphadenopathy, Hepato... |
ORPHA:391 |
| Ataxia-Pancytopenia Syndrome |
|
Acute myelomonocytic leukemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Hypoplastic a... |
OMIM:159550 |
| Thrombocythemia 1 |
|
Impaired ADP-induced platelet aggregation, Splenomegaly, Thrombocytosis, Impaired collagen-induce... |
OMIM:187950 |
| Immunodeficiency 7 |
|
Recurrent otitis media, Hypereosinophilia, Autoimmunity, Autoimmune hemolytic anemia, Splenomegal... |
OMIM:615387 |
| Alpha-Thalassemia |
|
Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenome... |
ORPHA:846 |
| Ivic Syndrome |
|
Aplastic clavicle, Synostosis of carpal bones, Short thumb, Preaxial hand polydactyly, Joint stif... |
ORPHA:2307 |
| Anti-Glomerular Basement Membrane Disease |
|
Anemia, Autoimmunity, Arthritis |
ORPHA:375 |
| Systemic Lupus Erythematosus, Susceptibility To, 6 |
|
Systemic lupus erythematosus, Malar rash, Antinuclear antibody positivity, Arthritis, Pericarditis |
OMIM:609939 |
| Hypocalcemia, Autosomal Dominant 1 |
|
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Decreased circulating parathyroid h... |
OMIM:601198 |
| Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Recurrent pneumonia, Increased circulating interleukin 8 concentration, Failure to thrive in infa... |
OMIM:301220 |
| Schinzel-Giedion Syndrome |
|
Short distal phalanx of finger, Short 1st metacarpal, Central hypothyroidism, Annular pancreas, O... |
ORPHA:798 |
| Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hepatomegaly, Splenomegaly, Skin rash |
OMIM:619175 |
| Mevalonic Aciduria |
|
Recurrent infections, Cataract, Nuclear cataract, Diarrhea, Vomiting, Fluctuating splenomegaly, F... |
OMIM:610377 |
| Arboleda-Tham Syndrome |
|
Enlarged proximal interphalangeal joints, Recurrent otitis media, Genu valgum, Epicanthus, Pes pl... |
OMIM:616268 |
| Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Leukopenia, Neutropenia, Thrombocytop... |
OMIM:613989 |
| Infantile Sialic Acid Storage Disease |
|
Vacuolated lymphocytes, Conjugated hyperbilirubinemia, Splenomegaly |
OMIM:269920 |
| Epiphyseal Dysplasia, Baumann Type |
|
Epiphyseal dysplasia, Ulnar deviation of finger, Carpal bone aplasia, Genu valgum, Hypoplasia of ... |
OMIM:610797 |
| Campomelia, Cumming Type |
|
Clubbing of toes, Micromelia, Death in infancy, Bowing of the long bones, Brachydactyly, Pancreat... |
ORPHA:1318 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Bone marrow hypocellularity, Leukopenia, Pancytopenia, Micrognathia, Hypocalcemia, Recurrent frac... |
ORPHA:2785 |
| Beta-Mercaptolactate Cysteine Disulfiduria |
|
Micromelia, Sandal gap, Genu valgum, Joint hypermobility, Arachnodactyly |
ORPHA:1035 |
| Thrombocytopenia 7 |
|
Reduced platelet alpha granules, Impaired arachidonic acid-induced platelet aggregation, Reduced ... |
OMIM:619130 |
| Sponastrime Dysplasia |
|
Delayed epiphyseal ossification, Shallow acetabular fossae, Genu valgum, Broad foot, Pes planus, ... |
ORPHA:93357 |
| Nasolacrimal Duct Cyst |
|
Red eye, Periorbital edema, Chronic irritative conjunctivitis, Dacryocystocele, Corneal astigmati... |
ORPHA:141083 |
| Atelosteogenesis Type Iii |
|
Hand clenching, Absent humerus, Short tibia, Elbow dislocation, Knee dislocation, Short tubular b... |
ORPHA:56305 |
| Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Cataract, Sparse eyebrow, Folliculitis, Keratitis, Palmoplantar keratoderma, Alopecia, Nail dystr... |
OMIM:612843 |
| Pneumocystosis |
|
Interstitial pneumonitis, Increased circulating antibody level, Acute infectious pneumonia, Abnor... |
ORPHA:723 |
| Yao Syndrome |
|
Uveitis, Inflammatory abnormality of the skin, Xerostomia, Diarrhea, Skin rash, Keratoconjunctivi... |
OMIM:617321 |
| Oocyte/Zygote/Embryo Maturation Arrest 8 |
|
Abnormality of the menstrual cycle, Female infertility |
OMIM:619009 |
| Microcephalic Primordial Dwarfism, Montreal Type |
|
Congenital pyloric atresia, Reduced bone mineral density |
ORPHA:2617 |
| Gaisböck Syndrome |
|
Increased red blood cell count, Peptic ulcer, Increased mean corpuscular hemoglobin concentration... |
ORPHA:90041 |
| Ovarian Dysgenesis 1 |
|
Increased circulating gonadotropin level, Osteoporosis |
OMIM:233300 |
| Malignant Atrophic Papulosis |
|
Cataract, Gastrointestinal hemorrhage, Arteritis, Intestinal fistula, Gastrointestinal infarction... |
ORPHA:679 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1 |
|
Osteopenia, Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Myeloid leukemia, Anemia,... |
OMIM:614742 |
| Acute Generalized Exanthematous Pustulosis |
|
Facial edema, Predominantly dermal neutrophilic infiltrate, Leukocytosis, Pustule, Eosinophilic d... |
ORPHA:293173 |
| Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Abnormal pelvic girdle bone morphology, Ulnar deviation of finger, Micromelia, Camptodactyly of f... |
ORPHA:2928 |
| Trichinellosis |
|
Facial edema, Increased circulating IgE level, Central retinal artery occlusion, Retinal hemorrha... |
ORPHA:863 |
| Amegakaryocytic Thrombocytopenia, Congenital, 2 |
|
Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia |
OMIM:620481 |
| Immunodeficiency 59 And Hypoglycemia |
|
Slender finger, High anterior hairline, Arteritis, Recurrent upper respiratory tract infections, ... |
OMIM:233600 |
| Sarcoidosis, Susceptibility To, 1 |
|
Inflammation of the large intestine, Abnormal salivary gland morphology, Anorexia, Pancytopenia, ... |
OMIM:181000 |
| Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Decreased CD4:CD8 ratio, Eczematoid dermatitis, Neutropenia |
OMIM:300299 |
| Clouston Syndrome |
|
Cataract, Sparse eyebrow, Alopecia, Fine hair, Abnormal foot morphology, Alopecia totalis, Nail d... |
OMIM:129500 |
| Craniofacioskeletal Syndrome |
|
Small hand, Micrognathia, Absent gallbladder, Cryptorchidism, Hypoplastic frontal sinuses, Hypoca... |
OMIM:300712 |
| Larsen Syndrome |
|
Hypoplastic cervical vertebrae, Elbow dislocation, Tracheomalacia, Knee dislocation, Talipes equi... |
OMIM:150250 |
| Sialidosis Type 2 |
|
Osteoporosis, Flexion contracture, Splenomegaly |
ORPHA:87876 |
| Antisynthetase Syndrome |
|
Aortic regurgitation, Xerostomia, Joint dislocation, Skin rash, Myositis, Keratoconjunctivitis si... |
ORPHA:81 |
| Linear Iga Dermatosis |
|
Epistaxis, Inflammation of the large intestine |
ORPHA:46488 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hypogonadism, Sideroblastic anemia, Splenomegaly, Hypochromia, Poikilocytosis, Anemia, Decreased ... |
OMIM:615234 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Secundum atrial septal defect, Lymphopenia, Hepatosplenomegaly, Leukopenia, Splenomegaly, Cryptor... |
OMIM:612541 |
| Dyskeratosis Congenita, X-Linked |
|
Bone marrow hypocellularity, Cataract, Alopecia, Oral leukoplakia, Premature graying of hair, Pte... |
OMIM:305000 |
| Hypermanganesemia With Dystonia 1 |
|
Unconjugated hyperbilirubinemia, Hypermanganesemia, Polycythemia, Increased total iron binding ca... |
OMIM:613280 |
| Osteofibrous Dysplasia, Susceptibility To |
|
Pathologic fracture, Pseudoarthrosis, Fibular hypoplasia |
OMIM:607278 |
| Beemer Lethal Malformation Syndrome |
|
Thrombocytopenia |
OMIM:209970 |
| Propionic Acidemia |
|
Eczematoid dermatitis, Pancytopenia, Pancreatitis, Neutropenia, Thrombocytopenia, Anemia, Osteopo... |
OMIM:606054 |
| Riddle Syndrome |
|
Decreased circulating IgG level |
OMIM:611943 |
| Satoyoshi Syndrome |
|
Abnormal epiphysis morphology, Abnormality of the ovary, Abnormal hip bone morphology, Abnormal f... |
ORPHA:3130 |
| Fanconi Renotubular Syndrome 2 |
|
Osteopenia, Rickets, Recurrent fractures, Osteomalacia |
OMIM:613388 |
| C Syndrome |
|
Ulnar deviation of finger, Toe syndactyly, Postaxial foot polydactyly, Clinodactyly, Micromelia, ... |
OMIM:211750 |
| Williams-Beuren Syndrome |
|
Premature graying of hair, Recurrent otitis media, Mitral regurgitation, Chronic constipation, Ep... |
OMIM:194050 |
| Diarrhea 11, Malabsorptive, Congenital |
|
Diarrhea, Villous atrophy |
OMIM:618662 |
| Eiken Syndrome |
|
Delayed epiphyseal ossification, Broad femoral neck, Clinodactyly, Long hallux, Broad metatarsal,... |
OMIM:600002 |
| Say-Barber-Miller Syndrome |
|
Abnormality of the hairline, Micrognathia, Cryptorchidism, Impaired neutrophil chemotaxis, Erythe... |
ORPHA:3132 |
| Congenital Factor X Deficiency |
|
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Spontaneous h... |
ORPHA:328 |
| Inflammatory Bowel Disease 11 |
|
Hematochezia, Inflammation of the large intestine, Diarrhea, Weight loss, Abdominal pain |
OMIM:191390 |
| Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia, Neonatal death |
OMIM:257100 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Failure to thrive, Cardiomyopathy, Anorexia, Feeding difficulties, Nausea and vomiting, Splenomeg... |
ORPHA:79312 |
| Mgat2-Cdg |
|
Arrhythmia, Reflex asystolic syncope, Osteopenia, Decreased lymphocyte proliferation in response ... |
ORPHA:79329 |
| Chondrodysplasia-Difference Of Sex Development Syndrome |
|
Abnormal pelvic girdle bone morphology, Micromelia, Increased skull ossification, Broad long bone... |
ORPHA:1422 |
| Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Thrombocytopenia, Impaired platelet aggregation, Macrothrombocytopenia, Post-partum hemorrhage, M... |
OMIM:124900 |
| Immunodeficiency 68 |
|
Lymphadenitis, Abscess, T lymphocytopenia, B lymphocytopenia, Septic arthritis, Abnormal natural ... |
OMIM:612260 |
| Agammaglobulinemia 9, Autosomal Recessive |
|
Eczematoid dermatitis, Agammaglobulinemia, Seborrheic dermatitis, Absent circulating B cells, Thr... |
OMIM:619693 |
| Cholesteryl Ester Storage Disease |
|
Diarrhea, Splenomegaly, Cirrhosis, Hepatomegaly, Jaundice, Esophageal varix |
ORPHA:75234 |
| Hypotonia-Cystinuria Syndrome |
|
Decreased response to growth hormone stimulation test, Hypocalcemia, Hypergonadotropic hypogonadism |
OMIM:606407 |
| Immunodeficiency 16 |
|
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly |
OMIM:615593 |
| Macrocephaly/Autism Syndrome |
|
Recurrent infections, Coarse hair, Recurrent otitis media, Lymphopenia, Obesity, Large for gestat... |
OMIM:605309 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Bone marrow hypocellularity, Osteopenia, Intestinal bleeding, Oral leukoplakia, Fine hair, Premat... |
OMIM:612199 |
| Oocyte/Zygote/Embryo Maturation Arrest 11 |
|
Female infertility |
OMIM:619643 |
| Oocyte/Zygote/Embryo Maturation Arrest 6 |
|
Female infertility |
OMIM:618353 |
| Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
| Oocyte/Zygote/Embryo Maturation Arrest 15 |
|
Female infertility |
OMIM:616814 |
| Oocyte/Zygote/Embryo Maturation Arrest 3 |
|
Female infertility |
OMIM:617712 |
| Oocyte/Zygote/Embryo Maturation Arrest 7 |
|
Female infertility |
OMIM:618550 |
| Oocyte/Zygote/Embryo Maturation Arrest 18 |
|
Female infertility |
OMIM:620332 |
| Oocyte/Zygote/Embryo Maturation Arrest 19 |
|
Female infertility |
OMIM:620333 |
| Oocyte/Zygote/Embryo Maturation Arrest 1 |
|
Female infertility |
OMIM:615774 |
| Diamond-Blackfan Anemia 4 |
|
Macrocytic anemia, Erythroid hypoplasia, Reticulocytopenia, Atrial septal defect, Neutropenia |
OMIM:612527 |
| Hijazi-Reis Syndrome |
|
Hyperbilirubinemia |
OMIM:301094 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Pancreatic lymphangiectasis, Hepatosplenomegaly, Micrognathia, Splenomegaly, Cryptorchidism, Hypo... |
ORPHA:1655 |
| Catel-Manzke Syndrome |
|
Ulnar deviation of the 2nd finger, Micrognathia, Genu valgum, Cryptorchidism, Talipes equinovarus... |
OMIM:616145 |
| X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Hypertrichosis, Synophrys, Decreased circulating antibody level, Cleft palate, Prominent metopic ... |
ORPHA:85317 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Lymphopenia, Abnormal metaphysis morphology, Agammaglobulinemia, Long fibula, Anemia, Reduced bon... |
ORPHA:935 |
| Fanconi Anemia, Complementation Group T |
|
Bone marrow hypocellularity, Short thumb, Pancytopenia, Duplication of thumb phalanx, Acute myelo... |
OMIM:616435 |
| Schneckenbecken Dysplasia |
|
Hypoplastic ilia, Hypoplastic scapulae, Micromelia, Cryptorchidism, Fibular hypoplasia, Short rib... |
ORPHA:3144 |
| Mccune-Albright Syndrome |
|
Increased circulating cortisol level, Increased circulating prolactin concentration, Osteomalacia... |
ORPHA:562 |
| Tafro Syndrome |
|
Increased circulating interleukin 6 concentration, Ascites, Hepatosplenomegaly, Leukocytosis, Spl... |
ORPHA:457077 |
| Tibial Hemimelia |
|
Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Crypto... |
ORPHA:93322 |
| Fgfr2-Related Bent Bone Dysplasia |
|
Incomplete ossification of pubis, Osteopenia, Coronal craniosynostosis, Extramedullary hematopoie... |
ORPHA:313855 |
| Spondyloperipheral Dysplasia |
|
Broad thumb, Absent styloid process of ulna, Flat acetabular roof, Short distal phalanx of the 5t... |
OMIM:271700 |
| Trigonocephaly 1 |
|
High, narrow palate, Craniosynostosis, Meckel diverticulum, Metopic synostosis |
OMIM:190440 |
| Ring Chromosome 21 Syndrome |
|
Small hand, Clinodactyly, Azoospermia, Amenorrhea, Fused thoracic vertebrae, Infertility, Decreas... |
ORPHA:1445 |
| Grfoma |
|
Cholelithiasis, Intestinal carcinoid, Pituitary adenoma, Increased circulating cortisol level, In... |
ORPHA:97261 |
| Lymphedema-Distichiasis Syndrome |
|
Cataract, Predominantly lower limb lymphedema, Ectropion, Recurrent urinary tract infections, Dis... |
ORPHA:33001 |
| Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay |
|
Platelet anisocytosis, Horizontal eyebrow, Long eyelashes, Telecanthus, Overlapping toe, Upslante... |
OMIM:620475 |
| Thrombocytopenia 5 |
|
Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,... |
OMIM:616216 |
| Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Pathologic fracture, Wormian bones, Abnormal cortical bone morphology, Limitation of joint mobility |
ORPHA:166277 |
| Osteoglophonic Dysplasia |
|
Hypoplastic scapulae, Broad thumb, Cryptorchidism, Broad foot, Bowing of the long bones, Broad ph... |
OMIM:166250 |
| Spherocytosis, Type 5 |
|
Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ... |
OMIM:612690 |
| Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome |
|
Hypoplasia of the radius, Nonopposable triphalangeal thumb, Micromelia |
ORPHA:2252 |
| Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Cataract, Broad distal phalanx of finger, Bifid uvula, Downslanted palpebral fissures, Micrognath... |
OMIM:300990 |
| Gm1-Gangliosidosis, Type Ii |
|
Sea-blue histiocytosis, Joint stiffness, Splenomegaly, Hypoplastic vertebral bodies, Limb undergr... |
OMIM:230600 |
| Overhydrated Hereditary Stomatocytosis |
|
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... |
ORPHA:3203 |
| Follicular Lymphoma |
|
Mediastinal lymphadenopathy, Splenomegaly, Abnormal peritoneum morphology, Lymphadenopathy |
ORPHA:545 |
| Spondylodysplastic Ehlers-Danlos Syndrome |
|
Aortic valve stenosis, Megalocornea, Subluxation of the small joints of the hand, Micrognathia, D... |
ORPHA:536471 |
| Cockayne Syndrome Type 1 |
|
Cataract, Male hypogonadism, Diarrhea, Foot joint contracture, Failure to thrive, Cryptorchidism,... |
ORPHA:90321 |
| Portal Hypertension, Noncirrhotic, 2 |
|
Epistaxis, Ascites, Portal hypertension, Splenomegaly, Petechiae, Ecchymosis, Thrombocytopenia, R... |
OMIM:619463 |
| Liver Disease, Severe Congenital |
|
Diarrhea, Portal inflammation, Recurrent otitis media, Hepatic steatosis, Abnormal hepatic echoge... |
OMIM:619991 |
| Prothrombin Deficiency, Congenital |
|
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Ecchymosis, P... |
OMIM:613679 |
| Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Recurrent otitis media, Lymphopenia, Pancytopenia, Hepatosplenomegaly, Erythema nodosum, Abdomina... |
OMIM:615688 |
| Netherton Syndrome |
|
Increased circulating IgE level, Decreased circulating antibody level |
ORPHA:634 |
| Somatostatinoma |
|
Pituitary adenoma, Increased circulating cortisol level, Increased circulating prolactin concentr... |
ORPHA:97283 |
| Familial Hyperprolactinemia |
|
Osteoporosis, Osteopenia |
ORPHA:397685 |
| Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Foot oligodactyly, Bilateral cleft palate, Amelia, Short femur |
OMIM:601357 |
| Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive |
|
Macrocytic dyserythropoietic anemia, Macrocytic anemia |
OMIM:619789 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hypoalbuminemia, Elevated circulating thyroid-stimulating hormone concentration, Hypomagnesemia, ... |
OMIM:618183 |
| Ciliary Dyskinesia, Primary, 29 |
|
Decreased circulating antibody level |
OMIM:615872 |
| Lysinuric Protein Intolerance |
|
Osteopenia, Abnormality of humoral immunity, Hemophagocytosis, Decreased response to growth hormo... |
ORPHA:470 |
| Multiple Synostoses Syndrome 1 |
|
Carpal synostosis, Cutaneous finger syndactyly, Proximal/middle symphalangism of 5th toe, Lower l... |
OMIM:186500 |
| Axin2-Related Attenuated Familial Adenomatous Polyposis |
|
Colon cancer, Neoplasm of the rectum, Colorectal polyposis, Adenomatous colonic polyposis |
ORPHA:401911 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Protein-losing enteropathy, Hepatic fibrosis, Vomiting, Diarrhea, Villous atrophy, Hepatomegaly, ... |
OMIM:602579 |
| Bile Acid Synthesis Defect, Congenital, 2 |
|
Hyperbilirubinemia, Splenomegaly |
OMIM:235555 |
| Catastrophic Antiphospholipid Syndrome |
|
Anticardiolipin IgG antibody positivity, Microangiopathic hemolytic anemia, Systemic lupus erythe... |
ORPHA:464343 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Increased bone mineral density, Osteopetrosis, Coarse metaphyseal trabecularization, Facial hyper... |
ORPHA:2780 |
| Mixed-Type Autoimmune Hemolytic Anemia |
|
Autoimmune hemolytic anemia, Increased total bilirubin |
ORPHA:90036 |
| Hemochromatosis, Type 2B |
|
Anemia, Splenomegaly, Cardiomyopathy, Hypogonadism |
OMIM:613313 |
| Beta-Thalassemia |
|
Microcytic anemia, Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Anemia, Abnormality of ir... |
ORPHA:848 |
| Fanconi Renotubular Syndrome 3 |
|
Rickets |
OMIM:615605 |
| Stüve-Wiedemann Syndrome |
|
Limitation of joint mobility, Genu valgum, Bowing of the long bones, Talipes equinovarus, Flexion... |
ORPHA:3206 |
| Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects |
|
Hand clenching, Elbow dislocation, Cryptorchidism, Arachnodactyly, Radial head subluxation, Bleph... |
OMIM:620083 |
| Snakebite Envenomation |
|
Gingival bleeding, Epistaxis, Hypotension, Vomiting, Diarrhea, Neuromuscular dysphagia, Angioedem... |
ORPHA:449285 |
| Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Hypoalbuminemia, Hyperkalemia, Conjugated hyperbilirubinemia, Increased total bilirubin |
OMIM:618528 |
| Tenorio Syndrome |
|
Osteopenia, Recurrent pneumonia, Gastroesophageal reflux, Delayed cranial suture closure, Hypertr... |
OMIM:616260 |
| Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Cataract, Gastrointestinal hemorrhage, Sparse scalp hair, Ectopia lentis, Pulmonary embolism, Sub... |
ORPHA:394 |
| Familial Cold Autoinflammatory Syndrome 2 |
|
Recurrent aphthous stomatitis, Leukocytosis, Skin rash, Splenomegaly, Lymphadenopathy, Arthritis,... |
OMIM:611762 |
| Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Cardiomyopathy, Sideroblastic anemia, Splenomegaly, B lymphocytopenia, Delayed CNS myelination, H... |
OMIM:616084 |
| Cronkhite-Canada Syndrome |
|
Gastrointestinal carcinoma, Diarrhea, Furrowed tongue, Stomach cancer, Intestinal polyposis, Neop... |
ORPHA:2930 |
| Amed Syndrome, Digenic |
|
Bone marrow hypocellularity, Failure to thrive, Leukopenia, Telecanthus, Long thumb, Acute myeloi... |
OMIM:619151 |
| Distal Deletion 17Q |
|
Small hand, Deviation of finger, Micromelia, Abnormal hip bone morphology, Abnormal thumb morphol... |
ORPHA:1597 |
| Camurati-Engelmann Disease |
|
Cortical thickening of long bone diaphyses, Increased bone mineral density, Sclerosis of skull ba... |
OMIM:131300 |
| Porphyria, Congenital Erythropoietic |
|
Osteopenia, Joint contracture of the hand, Cholelithiasis, Alopecia, Hypertrichosis, Pathologic f... |
OMIM:263700 |
| Distal Limb Deficiencies-Micrognathia Syndrome |
|
Aplasia/Hypoplasia of the radius, Abnormality of the ankle, Microretrognathia, Oligodactyly, Abno... |
ORPHA:1307 |
| Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab... |
OMIM:608203 |
| Transaldolase Deficiency |
|
Biventricular hypertrophy, Hepatosplenomegaly, Atrial septal defect, Thrombocytopenia, Anemia |
ORPHA:101028 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Inflammation of the large intestine, Lymphopenia, Overlapping fingers, Micrognathia, Knee flexion... |
OMIM:619708 |
| Autosomal Dominant Omodysplasia |
|
Rhizomelia, Short 1st metacarpal, Elbow dislocation, Micrognathia, Cryptorchidism, Short humerus,... |
ORPHA:93328 |
| Plague |
|
Inflammation of the large intestine, Diarrhea, Lymphadenitis, Ileitis, Arrhythmia, Acute infectio... |
ORPHA:707 |
| Thalidomide Embryopathy |
|
Preaxial hand polydactyly, Radial club hand, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasi... |
ORPHA:3312 |
| Holzgreve Syndrome |
|
Joint stiffness, Abnormal morphology of ulna, Hand polydactyly, Abnormal metacarpal morphology, A... |
ORPHA:2167 |
| Cranioectodermal Dysplasia 4 |
|
Short distal phalanx of finger, Broad distal phalanx of finger, Bone marrow hypocellularity, Broa... |
OMIM:614378 |
| Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
B lymphocytopenia, Neutropenia, Monocytosis |
OMIM:613107 |
| Rift Valley Fever |
|
Thrombocytopenia, Anemia, Increased circulating IgG level, Increased circulating IgM level, Misca... |
ORPHA:319251 |
| Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Conjugated hyperbilirubinemia |
OMIM:605479 |
| Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Elevated red cell adenosine deaminase activity, Increased mean corpuscular volume, Macrocytic ane... |
OMIM:300946 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Aortic regurgitation, Clinodactyly, Subcutaneous hemorrhage, Pulmonary hemorrhage, Decreased plat... |
OMIM:603585 |
| Fetal Cytomegalovirus Syndrome |
|
Anemia, Conjugated hyperbilirubinemia, Splenomegaly, Thrombocytopenia |
ORPHA:294 |
| Whim Syndrome |
|
Pneumonia, Recurrent pneumonia, Verrucae, Lymphadenitis, Cutaneous melanoma, Parotitis, Lymphopen... |
ORPHA:51636 |
| Autosomal Dominant Spastic Paraplegia Type 29 |
|
Hyperbilirubinemia |
ORPHA:101009 |
| Omodysplasia 2 |
|
Short 1st metacarpal, Broad femoral neck, Limited elbow flexion, Rhizomelic arm shortening, Micro... |
OMIM:164745 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Hyperbilirubinemia, Conjugated hyperbilirubinemia, Abnormal serum bile acid concentration, Extram... |
ORPHA:79303 |
| Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Abnormal circulating thyroglobulin concentration, Conjugated hyperbilirubinemia |
ORPHA:95715 |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Osteoporosis |
ORPHA:2786 |
| Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Recurrent infections, Diarrhea, Failure to thrive, Exocrine pancreatic insuffi... |
OMIM:617941 |
| Menkes Disease |
|
Gastrointestinal hemorrhage, Chondrocalcinosis, Sepsis, Spontaneous hematomas, Osteomyelitis, Mic... |
ORPHA:565 |
| Ruvalcaba Syndrome |
|
Small hand, Cone-shaped epiphysis, Synostosis of carpal bones, Micromelia, Abnormal vertebral epi... |
ORPHA:3121 |
| Helix Syndrome |
|
Hypermagnesemia, Hyperparathyroidism, Xerostomia, Hypokalemia, Hypohidrosis, Anhidrosis |
OMIM:617671 |
| Mucoepithelial Dysplasia, Hereditary |
|
Pneumonia, Cataract, Recurrent pneumonia, Sparse hair, Alopecia, Chronic mucocutaneous candidiasi... |
OMIM:158310 |
| Addison Disease |
|
Adrenal calcification, Hypoparathyroidism, Hyperkalemia, Thymoma, Androgen insufficiency, Primary... |
ORPHA:85138 |
| Generalized Pustular Psoriasis |
|
Hypoalbuminemia, Lymphopenia, Leukocytosis, Hypocalcemia, Hyponatremia, Arthritis, Elevated circu... |
ORPHA:247353 |
| Limb-Mammary Syndrome |
|
Toe syndactyly, Psoriasiform dermatitis, Aplasia of the ovary, Chronic irritative conjunctivitis,... |
ORPHA:69085 |
| Hermansky-Pudlak Syndrome |
|
Iris hypopigmentation, Cataract, Gastrointestinal hemorrhage, Menometrorrhagia, Abnormality of th... |
ORPHA:79430 |
| Alg1-Cdg |
|
Protein-losing enteropathy, Abnormality of the gastrointestinal tract, Limitation of joint mobili... |
ORPHA:79327 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,... |
OMIM:314050 |
| Grant Syndrome |
|
Joint dislocation, Abnormal cortical bone morphology, Joint hypermobility, Decreased skull ossifi... |
ORPHA:2097 |
| Hennekam Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Abnormal foot morphology, Lymphopenia, Splenomegaly, ... |
ORPHA:2136 |
| Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Camptodactyly, Atopic dermatitis, Arthrogryposis multiplex congenita, Pyloric stenosis |
OMIM:614262 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Abnormal hair morphology, Cryptorchidism, Scleritis, Abnormal nasolacrimal system morphology, Abs... |
ORPHA:2273 |
| Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Osteopenia, Ankle flexion contracture, Carpal osteolysis, Interphalangeal joint contracture of fi... |
OMIM:259600 |
| ERI1-related disease |
|
Osteopenia, Slender metacarpals, Oligodactyly, Clinodactyly of the 5th finger, Limited elbow exte... |
OMIM:608739 |
| Hemochromatosis, Type 3 |
|
Anemia, Lymphopenia, Neutropenia, Arthritis |
OMIM:604250 |
| Craniosynostosis, Herrmann-Opitz Type |
|
Micromelia, Finger syndactyly, Micrognathia, Brachydactyly, Split hand, Craniosynostosis |
ORPHA:2145 |
| Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Intrahepatic cholestasis, Diarrhea, Splenomegaly, Intermittent jaundice, Cirrhosis, Hepatomegaly,... |
OMIM:601847 |
| Braddock-Carey Syndrome 1 |
|
Small hand, Clinodactyly, Anteriorly placed anus, Downslanted palpebral fissures, Telecanthus, Ta... |
OMIM:619980 |
| Multiple Endocrine Neoplasia Type 2 |
|
Thyroid C cell hyperplasia, Paraganglioma of head and neck, Elevated circulating parathyroid horm... |
ORPHA:653 |
| Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia |
|
Allergic rhinitis, Eosinophilic microabscess formation in the esophagus, Esophagitis, Eosinophili... |
ORPHA:411696 |
| Vascular Hyalinosis |
|
Protein-losing enteropathy, Diarrhea, Hematochezia |
OMIM:277175 |
| Familial Colorectal Cancer Type X |
|
Gastrointestinal hemorrhage, Pituitary adenoma, Pancreatic adenocarcinoma, Neoplasm of the colon,... |
ORPHA:440437 |
| Fanconi Anemia, Complementation Group O |
|
Absent thumb, Short thumb, Cryptorchidism, Neonatal death, Hypoplasia of the radius, Rectal atres... |
OMIM:613390 |
| Generalized Eruptive Keratoacanthoma |
|
Abnormal cornea morphology, Keratoconjunctivitis sicca, Ectropion, Conjunctivitis, Dysphagia |
ORPHA:411777 |
| 3-Methylglutaconic Aciduria Type 4 |
|
Iris hypopigmentation, Cataract, Failure to thrive, Decreased liver function, Cardiomyopathy, Thr... |
ORPHA:67048 |
| Juvenile Nephropathic Cystinosis |
|
Hypouricemia, Elevated circulating creatinine concentration, Hypocalcemic tetany, Abnormal long b... |
ORPHA:411634 |
| Small Bowel Atresia |
|
Intestinal malrotation, Vomiting, Intestinal hypoplasia, Jejunal atresia |
ORPHA:1201 |
| X-Linked Sideroblastic Anemia |
|
Anemia, Splenomegaly |
ORPHA:75563 |
| Calcific Aortic Disease With Immunologic Abnormalities, Familial |
|
Increased circulating antibody level |
OMIM:114065 |
| Niemann-Pick Disease, Type A |
|
Sea-blue histiocytosis, Microcytic anemia, Splenomegaly, Osteoporosis, Bone-marrow foam cells |
OMIM:257200 |
| Inflammatory Bowel Disease 25, Autosomal Recessive |
|
Folliculitis, Recurrent bronchitis, Pancolitis, Perianal abscess, Enterocutaneous fistula, Entero... |
OMIM:612567 |
| Pallister-Hall-Like Syndrome |
|
Toe syndactyly, Postaxial foot polydactyly, Micromelia, Anterior hypopituitarism, Micrognathia, D... |
OMIM:241800 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Bone marrow hypocellularity, Aplastic anemia, Increased mean corpuscular volume, Lymphopenia, Leu... |
OMIM:127550 |
| Good Syndrome |
|
Diarrhea, Recurrent urinary tract infections, Recurrent skin infections, Abnormal leukocyte morph... |
ORPHA:169105 |
| Cockayne Syndrome Type 2 |
|
Male hypogonadism, Cryptorchidism, Feeding difficulties in infancy, Developmental cataract, Conju... |
ORPHA:90322 |
| Familial Expansile Osteolysis |
|
Pathologic fracture, Osteolysis, Thin bony cortex |
OMIM:174810 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Increased circulating IgE level, Multiple muscular ventricular septal defects, Pulmonic stenosis |
OMIM:615508 |
| Cog4-Cdg |
|
Recurrent upper respiratory tract infections, Failure to thrive in infancy, Hepatosplenomegaly, R... |
ORPHA:263501 |
| Juvenile Dermatomyositis |
|
Vasculitis, Gastrointestinal hemorrhage, Alopecia, Limitation of joint mobility, Cardiomyopathy, ... |
ORPHA:93672 |
| Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Micromelia, Cryptorchidism, Joint hypermobility, Decreased calvarial ossification, Recurrent frac... |
ORPHA:2772 |
| Glucagonoma |
|
Diarrhea, Increased circulating prolactin concentration, Acanthocytosis, Nausea and vomiting, Int... |
ORPHA:97280 |
| Pearson Syndrome |
|
Bone marrow hypocellularity, Hypomagnesemia, Decreased response to growth hormone stimulation tes... |
ORPHA:699 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hypoalbuminemia, Hemophagocytosis, Increased total bilirubin, Increased circulating ferritin conc... |
OMIM:603553 |
| Fanconi Anemia |
|
Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Aplasia/Hypoplasia of the uvula... |
ORPHA:84 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Protein-losing enteropathy |
OMIM:619063 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Anemia, Chronic neutropenia, Thrombocytopenia |
OMIM:619302 |
| Boomerang Dysplasia |
|
Absent radius, Neonatal death, Fibular aplasia, Hypoplastic iliac body |
OMIM:112310 |
| Acitretin/Etretinate Embryopathy |
|
Atrioventricular canal defect, Hypoplasia of the thymus, Conotruncal defect |
ORPHA:40366 |
| Achondrogenesis |
|
Abnormality of bone mineral density, Micrognathia, Abnormal enchondral ossification, Micromelia |
ORPHA:932 |
| Wiedemann-Rautenstrauch Syndrome |
|
Sparse scalp hair, Clinodactyly, Micrognathia, Cryptorchidism, Sparse eyelashes, Absent eyelashes... |
OMIM:264090 |
| Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Microretrognathia, Clinodactyly of the 2nd finger, Micromelia, Monkey wrench femoral neck, Genu v... |
OMIM:618870 |
| Congenital Enterovirus Infection |
|
Neutropenia, Meningitis, Pleural effusion, Anemia, Hydrops fetalis, Fetal ascites, Hepatic failur... |
ORPHA:292 |
| Marburg Hemorrhagic Fever |
|
Neutrophilia in presence of infection, Diarrhea, Lymphopenia, Excessive bleeding after a venipunc... |
ORPHA:99826 |
| Pyloric Stenosis, Infantile Hypertrophic, 1 |
|
Projectile vomiting, Pyloric stenosis |
OMIM:179010 |
| Short-Rib Thoracic Dysplasia 12 |
|
Hypoplastic scapulae, Short toe, Short finger, Bowing of the arm, Splenomegaly, Broad foot, Short... |
OMIM:269860 |
| Hirschsprung Disease, Susceptibility To, 1 |
|
Abnormal enteric ganglion morphology, Vomiting, Aganglionic megacolon, Enterocolitis, Constipatio... |
OMIM:142623 |
| Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Recurrent pancreatitis, Splenomegaly |
OMIM:118830 |
| Cenani-Lenz Syndrome |
|
Synostosis of joints, Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Short thumb,... |
ORPHA:3258 |
| Down Syndrome |
|
Keratoconus, Decreased fertility, Protruding tongue, Acute megakaryocytic leukemia, Chronic const... |
ORPHA:870 |
| Martsolf Syndrome 1 |
|
Micrognathia, Cryptorchidism, Low posterior hairline, Epicanthus, Talipes equinovarus, Pes planus... |
OMIM:212720 |
| Adult-Onset Nemaline Myopathy |
|
Paraproteinemia, Flexion contracture |
ORPHA:171442 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Inflammation of the large intestine, Recurrent otitis media, Micrognathia, Genu valgum, Gastroint... |
ORPHA:99413 |
| Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Hypermagnesemia, Hypercalcemia, Pancreatitis, Primary hyperparathyroidism |
OMIM:145981 |
| Mosaic Monosomy X |
|
Inflammation of the large intestine, Recurrent otitis media, Micrognathia, Genu valgum, Gastroint... |
ORPHA:99228 |
| Monosomy X |
|
Inflammation of the large intestine, Recurrent otitis media, Micrognathia, Genu valgum, Gastroint... |
ORPHA:99226 |
| Turner Syndrome |
|
Inflammation of the large intestine, Recurrent otitis media, Micrognathia, Genu valgum, Gastroint... |
ORPHA:881 |
| Igg4-Related Pachymeningitis |
|
Nephritis, Lymphadenitis, Parotitis, Increased circulating IgG4 level, Reduced circulating comple... |
ORPHA:449427 |
| Congenital Plasminogen Activator Inhibitor Type 1 Deficiency |
|
Epidural hemorrhage, Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after dental extr... |
ORPHA:465 |
| Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Inflammatory abnormality of the skin, Xerostomia, Diarrhea, Oral-pharyngeal dysphagia, Neutropeni... |
ORPHA:95455 |
| Bleeding Disorder, Platelet-Type, 24 |
|
Platelet anisocytosis, Abnormal bleeding, Impaired arachidonic acid-induced platelet aggregation,... |
OMIM:619271 |
| Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Osteoporosis, Osteopenia, Increased susceptibility to fractures |
OMIM:612287 |
| Granulomatosis With Polyangiitis |
|
Diffuse alveolar hemorrhage, Keratitis, Episcleritis, Localized pulmonary hemorrhage, Weight loss... |
OMIM:608710 |
| Diamond-Blackfan Anemia 5 |
|
Leukopenia, Macrocytic anemia, Ventricular septal defect, Erythroid hypoplasia, Reticulocytopenia |
OMIM:612528 |
| Coccidioidomycosis |
|
Pneumonia, Folliculitis, Granuloma, Morbilliform rash, Osteomyelitis, Abnormality of the spleen, ... |
ORPHA:228123 |
| Ppoma |
|
Cholelithiasis, Intestinal carcinoid, Pituitary adenoma, Increased circulating cortisol level, In... |
ORPHA:97278 |
| Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Rhizomelia, Broad thumb, Short finger, Irregular epiphyses, Joint hypermobility, Brachydactyly, M... |
OMIM:612813 |
| Sengers Syndrome |
|
Cataract, Osteopenia, Hypertrophic cardiomyopathy, Pulmonary arterial hypertension, Developmental... |
OMIM:212350 |
| Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Antinuclear antibody positivity, Crescentic glomerulonephritis, Arthritis |
OMIM:616414 |
| Chronic Granulomatous Disease |
|
Eczematoid dermatitis, Liver abscess, Otitis media, Splenomegaly, Hepatomegaly, Tracheoesophageal... |
ORPHA:379 |
| Fanconi Anemia, Complementation Group F |
|
Pneumonia, Bone marrow hypocellularity, Absent thumb, Short thumb, Failure to thrive, Decreased r... |
OMIM:603467 |
| Von Willebrand Disease, Type 3 |
|
Epistaxis, Abnormal bleeding, Bruising susceptibility, Persistent bleeding after trauma, Prolonge... |
OMIM:277480 |
| Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Hypoplasia of the odontoid process, Broad long bones, Micrognathia, Broad phalanx, Short metacarp... |
OMIM:271665 |
| Gaucher Disease Type 2 |
|
Hepatomegaly, Flexion contracture, Dysphagia, Splenomegaly |
ORPHA:77260 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Bone marrow hypocellularity, Cataract, Recurrent upper respiratory tract infections, Eczematoid d... |
ORPHA:508542 |
| Warburg Micro Syndrome 1 |
|
Osteoporosis, Joint hypermobility |
OMIM:600118 |
| Portal Hypertension, Noncirrhotic, 1 |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Esophageal varix |
OMIM:617068 |
| Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Osteopetrosis |
OMIM:618541 |
| Vexas Syndrome |
|
Arteritis, Inflammatory abnormality of the skin, Neutrophilic infiltration of the skin, Macrocyti... |
OMIM:301054 |
| Common Variable Immunodeficiency |
|
Pneumonia, Vasculitis, Bronchiectasis, Recurrent respiratory infections, Failure to thrive in inf... |
ORPHA:1572 |
| Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Keratoconus, Recurrent pneumonia, Microcornea, Congenital hip dislocation, Joint dislocation, Ost... |
OMIM:225400 |
| Femoral-Facial Syndrome |
|
Toe syndactyly, Micrognathia, Humeroradial synostosis, Cryptorchidism, Limited elbow movement, Ep... |
OMIM:134780 |
| Ataxia-Telangiectasia |
|
Failure to thrive, Recurrent respiratory infections, Premature graying of hair, Lymphopenia, Poly... |
ORPHA:100 |
| Gastrocutaneous Syndrome |
|
Hiatus hernia, Peptic ulcer, Upslanted palpebral fissure, Synophrys |
ORPHA:2069 |
| Nocardiosis |
|
Lymphadenitis, Scleritis, Weight loss, Anorexia, Meningitis, Dacryocystitis, Endocarditis, Unusua... |
ORPHA:31204 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ivory epiphyses, Hypoplastic ilia, Rhizomelia, Hypotriglyceridemia, Abnormal epiphysis morphology... |
ORPHA:85167 |
| X-Linked Immunoneurologic Disorder |
|
Decreased circulating IgG2 level |
ORPHA:2571 |
| Congenital Toxoplasmosis |
|
Diarrhea, Failure to thrive in infancy, Ascites, Thrombocytopenia, Anemia |
ORPHA:858 |
| Igg4-Related Ophthalmic Disease |
|
Keratitis, Increased circulating IgE level, Increased circulating IgG4 level, Orchitis, Antinucle... |
ORPHA:449563 |
| Jacobsen Syndrome |
|
Aortic valve stenosis, Toe syndactyly, Finger syndactyly, Long hallux, Cryptorchidism, Talipes, E... |
ORPHA:2308 |
| Dermatosparaxis Ehlers-Danlos Syndrome |
|
Osteopenia, Gastroesophageal reflux, Joint dislocation, Rickets, Prolonged bleeding time, Abnorma... |
ORPHA:1901 |
| Wolman Disease |
|
Ascites, Splenomegaly, Hepatomegaly, Anemia, Steatorrhea, Bone-marrow foam cells, Esophageal varix |
ORPHA:75233 |
| Crouzon Syndrome |
|
Lambdoidal craniosynostosis, Coronal craniosynostosis, Keratitis, Shallow orbits, Sagittal cranio... |
OMIM:123500 |
| Dysostosis, Stanescu Type |
|
Abnormal epiphysis morphology, Micromelia, Massively thickened long bone cortices, Bowing of the ... |
ORPHA:1798 |
| Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia, Anemia, Recurrent respiratory infections,... |
OMIM:607616 |
| Osteopetrosis, Autosomal Recessive 3 |
|
Diaphyseal sclerosis, Osteopetrosis, Cranial hyperostosis |
OMIM:259730 |
| Lujo Hemorrhagic Fever |
|
Diarrhea, Lymphopenia, Excessive bleeding after a venipuncture, Periorbital edema, Cerebral edema... |
ORPHA:319213 |
| 46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome |
|
Mandibular condyle hypoplasia, Deformed humerus, Micrognathia, Dislocated radial head |
ORPHA:2975 |
| Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome |
|
Osteoarthritis of the elbow, Wrist swelling, Camptodactyly of finger, Polyarticular arthropathy, ... |
ORPHA:2848 |
| Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hypokalemia, Hyponatremia, Hypocalcemia, Hypomagnesemia |
OMIM:620152 |
| Immunoglobulin A Vasculitis |
|
Vasculitis, Gastrointestinal hemorrhage, Bruising susceptibility, Angioedema, Gastrointestinal in... |
ORPHA:761 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Micromelia, Micrognathia, Cryptorchidism, Neonatal death, Bowing of the long bones, Talipes equin... |
OMIM:224410 |
| Moyamoya Disease 6 With Or Without Achalasia |
|
Ischemic stroke, Hypertension, Achalasia, Dysphagia, Thrombocytopenia, Raynaud phenomenon, Impotence |
OMIM:615750 |
| Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1 |
|
Bone marrow hypocellularity, Cataract, Failure to thrive, Micrognathia, Decreased pineal volume, ... |
OMIM:301108 |
| Relapsing Polychondritis |
|
Cataract, Uveitis, Alopecia, Keratitis, Hepatitis, Limitation of joint mobility, Anteriorly place... |
ORPHA:728 |
| Idiopathic Congenital Hypothyroidism |
|
Neonatal hyperbilirubinemia |
ORPHA:95717 |
| Cornelia De Lange Syndrome 1 |
|
Micrognathia, Cryptorchidism, Low posterior hairline, Dislocated radial head, High palate, High, ... |
OMIM:122470 |
| Idiopathic Non-Lupus Full-House Nephropathy |
|
Reduced circulating complement concentration, Skin rash, Synovitis, Decreased circulating complem... |
ORPHA:567544 |
| Dyskeratosis Congenita |
|
Periodontitis, White hair, Premature graying of hair, Sparse hair, Esophageal stenosis, Cataract,... |
ORPHA:1775 |
| Graft Versus Host Disease |
|
Inflammatory abnormality of the skin, Diarrhea, Hemophagocytosis, Hepatosplenomegaly, Limited elb... |
ORPHA:39812 |
| Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies |
|
Recurrent otitis media, Lymphopenia, Pancytopenia, Micrognathia, Epicanthus, High palate, Iris co... |
OMIM:620654 |
| Alpha-Mannosidosis |
|
Synostosis of joints, Craniofacial hyperostosis, Splenomegaly, Arthritis, Hepatomegaly, Macroglos... |
ORPHA:61 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Ankyloblepharon, Palmoplantar keratoderma, Lacrimal duct atresia, Sparse body hair, Supernumerary... |
OMIM:106260 |
| Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis |
|
Osteoporosis |
OMIM:204730 |
| Phosphoglycerate Dehydrogenase Deficiency |
|
Decreased testicular size, Megaloblastic anemia, Adducted thumb, Developmental cataract, Thromboc... |
OMIM:601815 |
| Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome |
|
Craniosynostosis, High palate, Pyloric stenosis |
ORPHA:314575 |
| Cardioacrofacial Dysplasia 1 |
|
Postaxial polydactyly, Genu valgum, Limb undergrowth |
OMIM:619142 |
| Pancreatic Triacylglycerol Lipase Deficiency |
|
Diarrhea, Rickets, Osteomalacia, Exocrine pancreatic insufficiency, Abdominal pain, Iron deficien... |
ORPHA:309031 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Irregular epiphyses, Hypoplastic iliac wing, Cone-shaped epiphyses of the phalanges of the hand, ... |
OMIM:208500 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Anemia, Decreased circulating cortisol level, Intrauterine growth retardation, Cardiomegaly |
OMIM:618838 |
| Scedosporiosis |
|
Pneumonia, Abnormal jejunum morphology, Osteomyelitis, Arthralgia/arthritis, Sinusitis, Septic ar... |
ORPHA:449280 |
| Rhabdoid Tumor |
|
Nausea and vomiting, Neoplasm of the liver, Weight loss, Internal hemorrhage, Thrombocytopenia, A... |
ORPHA:69077 |
| Immunodeficiency 21 |
|
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Osteomyelitis, Anemia, Neutropen... |
OMIM:614172 |
| Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Recurrent infections, Failure to thrive, Pancytopenia, Skin rash, Glossitis, Epicanthus, Talipes ... |
OMIM:277380 |
| Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Gastrointestinal hemorrhage, Bruising susceptibility, Arrhythmia, Joint hypermobility |
ORPHA:230839 |
| Trichorhinophalangeal Syndrome, Type Ii |
|
Multiple long-bone exostoses, Osteopenia, Rib exostoses, Gastroesophageal reflux, Recurrent pneum... |
OMIM:150230 |
| Hemophilia B |
|
Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Petechiae, Persistent bleeding a... |
OMIM:306900 |
| Hb Bart'S Hydrops Fetalis |
|
Anemia, Splenomegaly, Pericarditis, Abnormal hemoglobin |
ORPHA:163596 |
| Pycnodysostosis |
|
Coronal craniosynostosis, Small hand, Rhizomelia, Lower limb asymmetry, Short finger, Decreased r... |
ORPHA:763 |
| Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Thrombocytopenia |
OMIM:619301 |
| Trochlea Of The Humerus, Aplasia Of |
|
Short humerus |
OMIM:191000 |
| Immunodeficiency 56 |
|
Recurrent pneumonia, Hepatic failure, Pneumocystis jirovecii pneumonia, Failure to thrive, Recurr... |
OMIM:615207 |
| Wolcott-Rallison Syndrome |
|
Hypoalbuminemia, Hyperbilirubinemia, Hyperammonemia, Hyponatremia, Iron deficiency anemia, Lympho... |
ORPHA:1667 |
| Cinca Syndrome |
|
Patellar overgrowth, Hepatosplenomegaly, Leukocytosis, Skin rash, Eosinophilia, Arthritis, Anemia... |
OMIM:607115 |
| Rapidly Involuting Congenital Hemangioma |
|
Congestive heart failure, Telangiectasia of the skin, Thrombocytopenia, Hepatic hemangioma, Avasc... |
ORPHA:141184 |
| Saul-Wilson Syndrome |
|
Short distal phalanx of finger, Pseudoepiphyses of the metacarpals, Wide anterior fontanel, Hypop... |
OMIM:618150 |
| Cogan Syndrome |
|
Aortic regurgitation, Vasculitis, Keratitis, Large vessel vasculitis, Episcleritis, Leukocytosis,... |
ORPHA:1467 |
| 8Q24.3 Microdeletion Syndrome |
|
Ectopic posterior pituitary, Talipes, Epicanthus, Feeding difficulties in infancy, Pes planus, Sh... |
ORPHA:508488 |
| Congenital Bile Acid Synthesis Defect Type 3 |
|
Hepatosplenomegaly, Hyperbilirubinemia |
ORPHA:79302 |
| Acrofacial Dysostosis, RodrÃguez Type |
|
Finger aplasia, Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the radius, Microre... |
ORPHA:1788 |
| Fish-Eye Disease |
|
Hepatomegaly, Angina pectoris, Splenomegaly, Lymphadenopathy |
ORPHA:79292 |
| Stormorken-Sjaastad-Langslet Syndrome |
|
Anemia, Asplenia |
ORPHA:3204 |
| Hjv Or Hamp-Related Hemochromatosis |
|
Osteoporosis, Abnormality of endocrine pancreas physiology, Arthropathy |
ORPHA:79230 |
| Dracunculiasis |
|
Limitation of joint mobility, Skin rash, Arthritis, Flexion contracture, Recurrent cutaneous absc... |
ORPHA:231 |
| Platelet Signal Processing Defect |
|
Epistaxis, Abnormal bleeding, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Impair... |
OMIM:173590 |
| Congenital Erythropoietic Porphyria |
|
Facial hypertrichosis, Scleritis, Keratoconjunctivitis, Increased fecal coproporphyrin 1, Poikilo... |
ORPHA:79277 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Broad thumb, Toe syndactyly, Shallow acetabular fossae, Hypoplastic iliac wing, Micrognathia, Cry... |
OMIM:609945 |
| Pycnodysostosis |
|
Increased bone mineral density, Osteolytic defects of the distal phalanges of the hand |
OMIM:265800 |
| Lacrimal Duct Defect |
|
Lacrimal duct atresia, Dacryocystocele, Sinusitis, Periorbital edema, Conjunctivitis, Dacryocystitis |
OMIM:149700 |
| Holt-Oram Syndrome |
|
Broad thumb, Aplasia/Hypoplasia of the radius, Finger syndactyly, Absent thumb, Joint stiffness, ... |
ORPHA:392 |
| Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Bone marrow hypocellularity, Sparse scalp hair, Aplastic anemia, Oral leukoplakia, Pterygium, Pan... |
OMIM:224230 |
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
Trichiasis, Sparse eyebrow, Keratitis, Oral leukoplakia, Elbow flexion contracture, Furrowed tong... |
OMIM:148210 |
| Imerslund-Gräsbeck Syndrome |
|
Anisopoikilocytosis, Vomiting, Failure to thrive, Abnormal bleeding, Hypersegmentation of neutrop... |
ORPHA:35858 |
| Glycogen Storage Disease Ib |
|
Inflammation of the large intestine, Xanthelasma, Gout, Splenomegaly, Recurrent bacterial infecti... |
OMIM:232220 |
| Classic Mycosis Fungoides |
|
Neoplasm of the skin, Eczematoid dermatitis, Lymphoma, Abnormal lymphocyte morphology, Skin rash,... |
ORPHA:2584 |
| Drug-Induced Lupus Erythematosus |
|
Prolonged QTc interval, Malar rash, Petechiae, Decreased circulating complement C4 concentration,... |
ORPHA:231111 |
| Blomstrand Lethal Chondrodysplasia |
|
Synostosis of joints, Aplastic clavicle, Rhizomelia, Metaphyseal cupping, Abnormal epiphysis morp... |
ORPHA:50945 |
| Methylcobalamin Deficiency Type Cble |
|
Increased mean corpuscular volume, Pancytopenia, Macrocytic anemia, Neutropenia, Osteoporosis |
ORPHA:2169 |
| Tick-Borne Encephalitis |
|
Leukopenia, Abnormal circulating cytokine concentration, Leukocytosis, Abnormal myocardium morpho... |
ORPHA:297 |
| Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Osteoporosis, Finger joint contracture, Flexion contracture of toe |
ORPHA:48431 |
| Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Abnormality of thrombocytes, Bruising su... |
ORPHA:758 |
| Bone Marrow Failure Syndrome 5 |
|
Erythroid hypoplasia, Anemia, Pure red cell aplasia, Decreased circulating antibody level, Testic... |
OMIM:618165 |
| Encephalitis Lethargica |
|
Stiff neck, Autoimmunity, Increased circulating antibody level |
ORPHA:83600 |
| Chronic Graft Versus Host Disease |
|
Diarrhea, Xerostomia, Pancytopenia, Weight loss, Anorexia, Abdominal pain, Dysphagia, Alopecia, G... |
ORPHA:99921 |
| Primary Myelofibrosis |
|
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm... |
ORPHA:824 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Osteopenia, Increased susceptibility to fractures, Joint hypermobility, Wormian bones, Osteoporosis |
ORPHA:2788 |
| Autoimmune Polyendocrinopathy Type 2 |
|
Type I diabetes mellitus, Graves disease, Hypogonadism, Abnormality of the thyroid gland, Primary... |
ORPHA:3143 |
| Cardioacrofacial Dysplasia 2 |
|
Postaxial foot polydactyly, Genu valgum, Limb undergrowth, Brachydactyly, Recurrent patellar disl... |
OMIM:619143 |
| Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Absent forearm, Short tibia, Clinodactyly, Oligodactyly, Overlapping toe, Micrognathia, 11 pairs ... |
OMIM:201170 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Discoid lupus rash, Recurrent pneumonia, Recurrent Klebsiella infections, Lymphadenitis, Eczemato... |
OMIM:233700 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Discoid lupus rash, Recurrent pneumonia, Recurrent Klebsiella infections, Lymphadenitis, Eczemato... |
OMIM:233710 |
| 21Q22.11Q22.12 Microdeletion Syndrome |
|
Acromesomelia, Short palpebral fissure, Clinodactyly, Delayed skeletal maturation, Downslanted pa... |
ORPHA:261323 |
| Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2 |
|
Cataract, Enterocolitis |
OMIM:620425 |
| Diamond-Blackfan Anemia 7 |
|
Osteopenia, Increased mean corpuscular volume, Recurrent otitis media, Esophagitis, Macrocytic an... |
OMIM:612562 |
| Cleidocranial Dysplasia 2 |
|
Short distal phalanx of finger, Aplastic clavicle, Broad thumb, Osteopenia, Genu valgum, Delayed ... |
OMIM:620099 |
| Chylomicron Retention Disease |
|
Steatorrhea, Accumulation of lipid droplets in small-bowel enterocytes, Vomiting, Diarrhea |
OMIM:246700 |
| Bleeding Disorder, Platelet-Type, 20 |
|
Menorrhagia, Epistaxis, Bruising susceptibility, Thrombocytopenia |
OMIM:616913 |
| Von Willebrand Disease, Type 2 |
|
Menorrhagia, Epistaxis, Bruising susceptibility, Thrombocytopenia |
OMIM:613554 |
| Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Abnormal heart morphology, Hypoplasia of the thymus, Intrauterine growth retardation, Cryptorchidism |
OMIM:214110 |
| Laurin-Sandrow Syndrome |
|
Toe syndactyly, Limitation of joint mobility, Finger syndactyly, Mirror image polydactyly, Preaxi... |
ORPHA:2378 |
| Leukocyte Adhesion Deficiency Type Ii |
|
Microcytic anemia, Recurrent otitis media, Overlapping toe, Protruding tongue, Neutrophilia, Long... |
ORPHA:99843 |
| Chromomycosis |
|
Predominantly lower limb lymphedema, Keratitis, Abnormal foot morphology, Lymphedema, Ankylosis, ... |
ORPHA:182 |
| Primary Sclerosing Cholangitis |
|
Osteopenia, Hepatitis, Hepatosplenomegaly, Autoimmunity, Splenomegaly, Pancreatitis, Polyclonal e... |
ORPHA:171 |
| Congenital Rubella Syndrome |
|
Cataract, Skin rash, Splenomegaly, Aplasia/Hypoplasia of the iris, Thrombocytopenia, Corneal opac... |
ORPHA:290 |
| American Trypanosomiasis |
|
Diarrhea, Skin rash, Splenomegaly, Infectious encephalitis, Aganglionic megacolon, Hepatomegaly, ... |
ORPHA:3386 |
| Hall-Riggs Syndrome |
|
Abnormal epiphysis morphology, Joint stiffness, Limb undergrowth, Brachydactyly, Abnormal metaphy... |
ORPHA:2107 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Joint contracture of the hand, Recurrent pneumonia, Elbow flexion contracture, Knee flexion contr... |
OMIM:214150 |
| Preeclampsia |
|
Elevated systolic blood pressure, Elevated diastolic blood pressure, Polycystic ovaries, Pulmonar... |
ORPHA:275555 |
| Juvenile Arthritis |
|
Leukocytosis, Thrombocytosis |
OMIM:618795 |
| Cryohydrocytosis |
|
Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis |
OMIM:185020 |
| Adult Syndrome |
|
Sparse scalp hair, Toe syndactyly, Absent nipple, Eczematoid dermatitis, Fair hair, Breast hypopl... |
OMIM:103285 |
| Thanatophoric Dysplasia |
|
Abnormal ilium morphology, Micromelia, Joint stiffness, Joint hypermobility, Abnormal sacroiliac ... |
ORPHA:2655 |
| Pediatric-Onset Graves Disease |
|
Diarrhea, Keratitis, Failure to thrive, Sinus tachycardia, Goiter, Congestive heart failure, Olig... |
ORPHA:525731 |
| Thrombocytopenia 9 |
|
Abnormal bleeding, Abnormal platelet aggregation, Thrombocytopenia |
OMIM:620478 |
| Myh9-Related Disease |
|
Nephritis, Giant platelets, Bruising susceptibility, Prolonged bleeding time, Presenile cataracts... |
ORPHA:182050 |
| Perrault Syndrome 1 |
|
Increased circulating gonadotropin level, Osteoporosis |
OMIM:233400 |
| Infantile Systemic Hyalinosis |
|
Osteopenia, Aplasia/Hypoplasia of the thymus, Micromelia, Camptodactyly of finger, Osteomalacia, ... |
ORPHA:2176 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Discoid lupus rash, Recurrent pneumonia, Recurrent Klebsiella infections, Lymphadenitis, Eczemato... |
OMIM:233690 |
| Isovaleric Acidemia |
|
Bone marrow hypocellularity, Vomiting, Pancytopenia, Leukopenia, Cerebellar hemorrhage, Thrombocy... |
OMIM:243500 |
| Laurin-Sandrow Syndrome |
|
Patellar aplasia, Broad foot, Hand polydactyly, Triphalangeal thumb, Absent tibia, Absent radius,... |
OMIM:135750 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Gastroesophageal reflux, Failure to thrive, Delayed skeletal maturation, Feeding difficulties, Mi... |
OMIM:614857 |
| Chronic Bilirubin Encephalopathy |
|
Hypoalbuminemia, Neonatal hyperbilirubinemia, Hemolytic anemia, Hypernatremia |
ORPHA:529808 |
| Refractory Anemia With Excess Blasts |
|
Abnormal mean corpuscular volume, Bone marrow hypocellularity, Abnormal bleeding, Chronic infecti... |
ORPHA:86839 |
| Acute Bilirubin Encephalopathy |
|
Hypoalbuminemia, Neonatal hyperbilirubinemia, Hemolytic anemia, Hypernatremia |
ORPHA:529799 |
| Isolated Anencephaly |
|
Intrauterine growth retardation, Adrenal hypoplasia, Thymus hyperplasia, Maternal diabetes |
ORPHA:563609 |
| Hypomagnesemia 1, Intestinal |
|
Hypocalcemia, Hypomagnesemia |
OMIM:602014 |
| Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis |
|
Hemolytic anemia, Anemia of inadequate production, Elliptocytosis |
OMIM:166910 |
| Leprechaunism |
|
Megarectum, Facial hypertrichosis, Failure to thrive, Hypertrichosis, Long foot, Hypertrophic car... |
ORPHA:508 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Rickets |
OMIM:611590 |
| Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Osteoporosis |
OMIM:618234 |
| Cinca Syndrome |
|
Joint dislocation, Abnormality of neutrophils, Abnormal joint morphology, Leukocytosis, Splenomeg... |
ORPHA:1451 |
| Granulomatous Disease, Chronic, X-Linked |
|
Discoid lupus rash, Recurrent pneumonia, Recurrent Klebsiella infections, Lymphadenitis, Eczemato... |
OMIM:306400 |
| Slc35A1-Cdg |
|
Pneumonia, Giant platelets, Abnormal bleeding, Subcutaneous hemorrhage, Pulmonary hemorrhage, Abn... |
ORPHA:238459 |
| Fibrochondrogenesis 1 |
|
Hypoplastic ischia, Hypoplastic scapulae, Small hand, Rhizomelia, Joint contracture of the hand, ... |
OMIM:228520 |
| Periventricular Nodular Heterotopia |
|
Gastroesophageal reflux, Shoulder dislocation, Joint hypermobility, Patellar dislocation, Pyloric... |
ORPHA:98892 |
| Osteootohepatoenteric Syndrome |
|
Hepatic fibrosis, Portal fibrosis, Secretory diarrhea, Cholestasis, Increased intestinal transit ... |
OMIM:619377 |
| Lambert Syndrome |
|
Decreased circulating antibody level |
ORPHA:1296 |
| Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency |
|
Anemia |
ORPHA:371 |
| Classic Galactosemia |
|
Osteoporosis, Abnormal erythrocyte enzyme concentration or activity, Reduced bone mineral density |
ORPHA:79239 |
| Autosomal Recessive Primary Microcephaly |
|
Abnormal cortical bone morphology |
ORPHA:2512 |
| Orotic Aciduria |
|
Folate-unresponsive megaloblastic anemia, Anisocytosis, Ventricular septal defect, Atrial septal ... |
OMIM:258900 |
| Dysosteosclerosis |
|
Osteopenia, Sclerosis of hand bone, Sclerosis of skull base, Increased susceptibility to fracture... |
OMIM:224300 |
| Immunodeficiency 13 |
|
Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, B lymp... |
OMIM:615518 |
| Fanconi Anemia, Complementation Group D1 |
|
Acute myeloid leukemia, Bone marrow hypocellularity, T-cell acute lymphoblastic leukemias, Short ... |
OMIM:605724 |
| Plasminogen Deficiency, Type I |
|
Nephritis, Recurrent upper respiratory tract infections, Periodontitis, Conjunctivitis, Duodenal ... |
OMIM:217090 |
| Necrotizing Enterocolitis |
|
Hypotension, Diarrhea, Abdominal distention, Vomiting, Small for gestational age, Hypoactive bowe... |
ORPHA:391673 |
| Icf Syndrome |
|
Recurrent respiratory infections, Lymphopenia, Micrognathia, Malabsorption, Protruding tongue, Ep... |
ORPHA:2268 |
| Ornithine Transcarbamylase Deficiency |
|
Splenomegaly, Pyloric stenosis |
ORPHA:664 |
| Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Anemia, Abnormal tricuspid valve morphology, Ventricular septal defect |
ORPHA:3405 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Gastroesophageal reflux, Vomiting, Failure to thrive, Recurrent respiratory infections, Hypertrop... |
ORPHA:17 |
| Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
| Frontometaphyseal Dysplasia 2 |
|
Broad thumb, Cryptorchidism, Hip contracture, Talipes equinovarus, Feeding difficulties in infanc... |
OMIM:617137 |
| Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Osteoporosis, Rickets |
OMIM:560000 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Recurrent infections, Cataract, Recurrent pneumonia, Rhizomelia, Abnormal bleeding, Congestive he... |
OMIM:616271 |
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Keratoconus, Alopecia, Palmoplantar keratoderma, Failure to thrive, Erythroderma, Conjunctivitis,... |
OMIM:242150 |
| Mitchell-Riley Syndrome |
|
Diarrhea, Meckel diverticulum, Annular pancreas, Anteriorly placed anus, Pancreatic hypoplasia, I... |
OMIM:615710 |
| Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Unilateral radial aplasia, Partial absence of thumb, Micrognathia, 2-3 toe syndactyly, Abnormalit... |
ORPHA:476126 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Recurrent viral infections, Recurrent otitis media, Alopecia totalis, Psoriasiform dermatitis, Re... |
ORPHA:293978 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Increased mean corpuscular volume, Extramedullary hematopoiesis, Sideroblastic anemia, Erythroid ... |
OMIM:617021 |
| Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Conjugated hyperbilirubinemia |
OMIM:619484 |
| Bruck Syndrome 1 |
|
Ankle flexion contracture, Pterygium, Elbow flexion contracture, Increased susceptibility to frac... |
OMIM:259450 |
| Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency |
|
Abnormal circulating interleukin concentration, Lymphadenitis, Vasculitis in the skin |
ORPHA:319552 |
| Bile Acid Synthesis Defect, Congenital, 4 |
|
Hyperbilirubinemia, Decreased serum bile acid concentration |
OMIM:214950 |
| Meckel Syndrome, Type 9 |
|
Talipes equinovarus, Limb undergrowth |
OMIM:614209 |
| Noonan Syndrome 4 |
|
Sparse eyebrow, High anterior hairline, Abnormal bleeding, Bruising susceptibility, Delayed skele... |
OMIM:610733 |
| Hereditary Acrokeratotic Poikiloderma |
|
Gingival bleeding, Xerostomia, Eczematoid dermatitis, Finger syndactyly, Camptodactyly of finger,... |
ORPHA:2907 |
| Sea-Blue Histiocytosis |
|
Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia, Hepatomegaly, Mediastinal lymphadenopathy |
ORPHA:158029 |
| Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
High, narrow palate, Ectopia lentis, Bruising susceptibility, Downslanted palpebral fissures, Oli... |
OMIM:616914 |
| Cholesteryl Ester Storage Disease |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Periportal fibrosis, Vomiting, Diarrhea, Increased h... |
OMIM:278000 |
| Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Cryptorchidism, Blepharophimosis, Neutropenia, Absent radius, Leukemia, Absent thum... |
OMIM:227646 |
| Lymphedema-Distichiasis Syndrome |
|
Predominantly lower limb lymphedema, Yellow nails, Chylothorax, Lymphedema, Micrognathia, Nonimmu... |
OMIM:153400 |
| Seckel Syndrome 1 |
|
Ivory epiphyses, Sandal gap, Hypoplasia of proximal radius, Elbow flexion contracture, Cone-shape... |
OMIM:210600 |
| Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Abnormal B cell morphology, Decreased response to growth hormone stimulation test, Contracture of... |
OMIM:618223 |
| Morgagni-Stewart-Morel Syndrome |
|
Hypothyroidism, Osteoarthritis, Osteoporosis, Acne, Hyperostosis frontalis interna |
ORPHA:77296 |
| Amegakaryocytic Thrombocytopenia, Congenital, 1 |
|
Pancytopenia, Thrombocytopenia, Amegakaryocytic thrombocytopenia |
OMIM:604498 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Sepsis, Nausea and vomiting, Pancreatitis, Thrombocytopenia, Neutropenia, Anemia |
ORPHA:289916 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Protein-losing enteropathy, Diarrhea, Hematochezia |
ORPHA:103910 |
| Non-Involuting Congenital Hemangioma |
|
Hepatic hemangioma, Telangiectasia of the skin, Thrombocytopenia, Congestive heart failure |
ORPHA:141179 |
| 3M Syndrome |
|
Congenital hip dislocation, Rocker bottom foot, Slender long bone, Micromelia, Hypoplastic pelvis... |
ORPHA:2616 |
| Bleeding Disorder, Platelet-Type, 12 |
|
Epistaxis, Intestinal bleeding, Bruising susceptibility, Impaired platelet aggregation, Joint hem... |
OMIM:605735 |
| Pearson Marrow-Pancreas Syndrome |
|
Sideroblastic anemia, Pancytopenia, Neutropenia, Anorexia, Malabsorption, Villous atrophy, Refrac... |
OMIM:557000 |
| Poland Syndrome |
|
Small hand, Acute leukemia, Finger syndactyly, Aplasia/Hypoplasia of the sternum, Cryptorchidism,... |
ORPHA:2911 |
| Eosinophilic Fasciitis |
|
Abnormal eosinophil morphology, Fasciitis, Myositis, Eosinophilia, Arthritis |
ORPHA:3165 |
| 17Q23.1Q23.2 Microdeletion Syndrome |
|
Highly arched eyebrow, Shallow acetabular fossae, Abnormal epiphysis morphology, Sandal gap, Pate... |
ORPHA:261279 |
| Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Bone marrow hypocellularity, Failure to thrive, Large for gestational age, Thrombocytopenia, Neut... |
OMIM:614520 |
| Autoimmune Polyendocrinopathy Type 1 |
|
Abnormal circulating calcium-phosphate regulating hormone concentration, Increased circulating co... |
ORPHA:3453 |
| Neonatal Lupus Erythematosus |
|
Hepatic failure, Atrioventricular block, Aplastic anemia, Dilated cardiomyopathy, Abnormal bleedi... |
ORPHA:398124 |
| Neuroleptic Malignant Syndrome |
|
Hyperphosphatemia, Hypomagnesemia, Leukocytosis, Hypocalcemia, Hyperuricemia, Elevated circulatin... |
ORPHA:94093 |
| Griscelli Syndrome Type 2 |
|
Hemophagocytosis, Pancytopenia, Splenomegaly, Lymphadenopathy, Neutropenia, Hepatomegaly, Jaundice |
ORPHA:79477 |
| Osteogenesis Imperfecta, Type Vii |
|
Osteopenia, Rhizomelia, Micromelia, Crumpled long bones, Recurrent fractures, Death in infancy, D... |
OMIM:610682 |
| Biotinidase Deficiency |
|
Alopecia, Diarrhea, Vomiting, Skin rash, Splenomegaly, Feeding difficulties in infancy, Seborrhei... |
OMIM:253260 |
| Hepatoerythropoietic Porphyria |
|
Seborrhoeic blepharitis, Osteopenia, Facial hypertrichosis, Abnormal bleeding, Osteolysis, Erythr... |
ORPHA:95159 |
| Eng-Strom Syndrome |
|
Arthritis, Camptodactyly of finger |
ORPHA:1937 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Cardiomyopathy, Leukopenia, Nausea and vomiting, Macrocytic anemia, Pancreatitis, Thrombocytopeni... |
ORPHA:27 |
| Braddock-Carey Syndrome 2 |
|
Cleft palate, Clinodactyly, Thrombocytopenia, Downslanted palpebral fissures |
OMIM:619981 |
| Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Osteoporosis, Osteopenia |
ORPHA:369 |
| Agel Amyloidosis |
|
Cataract, Tongue atrophy, Xerostomia, Bruising susceptibility, Cardiomyopathy, Bilateral ptosis, ... |
ORPHA:85448 |
| Bangstad Syndrome |
|
Type I diabetes mellitus, Deviation of finger, Increased circulating cortisol level, Abnormality ... |
ORPHA:1227 |
| Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Patellar hypoplasia, Cryptorchidism, Pseudohypoparathyroidism, Brachydactyly, Short fourth metata... |
ORPHA:464288 |
| Fanconi Anemia, Complementation Group I |
|
Bone marrow hypocellularity, Absent thumb, Short thumb, Short 1st metacarpal, Decreased response ... |
OMIM:609053 |
| Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis |
|
Hyperbilirubinemia, Increased serum bile acid concentration |
OMIM:619685 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Short distal phalanx of finger, Hypoplastic scapulae, Micromelia, Polydactyly, Bowing of the long... |
OMIM:614091 |
| Pancreatic Colipase Deficiency |
|
Cholelithiasis, Exocrine pancreatic insufficiency, Megaloblastic anemia, Steatorrhea, Chronic dia... |
ORPHA:309108 |
| Vici Syndrome |
|
Recurrent viral infections, Lymphopenia, Micrognathia, Decreased proportion of CD4-positive helpe... |
OMIM:242840 |
| Orthostatic Hypotension 2 |
|
Anemia |
OMIM:618182 |
| Hypertrichosis Cubiti |
|
Joint hypermobility, Rhizomelia, Micromelia, Abnormality of the elbow |
ORPHA:2220 |
| Fanconi Anemia, Complementation Group R |
|
Anemia, Bone marrow hypocellularity, Absent thumb, Radial dysplasia |
OMIM:617244 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Hepatosplenomegaly, Hypersplenism, Micrognathia, Hepatoblastoma, Esophageal varix, Gastrointestin... |
ORPHA:731 |
| Moebius Syndrome |
|
Aplasia/Hypoplasia of the radius, Finger syndactyly, Breast aplasia, Absent hand, Aplasia/Hypopla... |
ORPHA:570 |
| Hermansky-Pudlak Syndrome 1 |
|
Gingival bleeding, Hematochezia, Inflammation of the large intestine, Epistaxis, Bruising suscept... |
OMIM:203300 |
| Erythrocytosis, Familial, 1 |
|
Increased hematocrit, Splenomegaly, Increased red blood cell mass, Increased circulating hemoglob... |
OMIM:133100 |
| Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Osteopenia, Limb undergrowth, Hypothyroidism, Neutropenia, Joint contracture, Hip dislocation |
OMIM:618005 |
| Fanconi Renotubular Syndrome 1 |
|
Rickets, Osteomalacia |
OMIM:134600 |
| Cranioectodermal Dysplasia |
|
Osteoporosis, Craniosynostosis, Joint hypermobility |
ORPHA:1515 |
| Cowden Syndrome 1 |
|
Recurrent infections, Cataract, Colonic diverticula, Goiter, Lymphopenia, Furrowed tongue, Microg... |
OMIM:158350 |
| Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities |
|
Gastroesophageal reflux, Failure to thrive, Chronic constipation, Thrombocytopenia, Feeding diffi... |
OMIM:616577 |
| Genetic Recurrent Myoglobinuria |
|
Proximal muscle weakness in upper limbs, Hyperphosphatemia, Hypocalcemia, Hyperkalemia, Highly el... |
ORPHA:99845 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Osteopenia, Carpal osteolysis, Pterygium, Osteolysis involving tarsal bones, Increased susceptibi... |
ORPHA:371428 |
| Endove Syndrome, Limb-Only Type |
|
Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Short middle phalanx o... |
OMIM:619217 |
| Dk Phocomelia Syndrome |
|
Phocomelia, Thrombocytopenia |
OMIM:223340 |
| Chédiak-Higashi Syndrome |
|
Gingival bleeding, Periodontitis, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Neutropenia... |
ORPHA:167 |
| Gastrocutaneous Syndrome |
|
Hiatus hernia, Peptic ulcer |
OMIM:137270 |
| Ramon Syndrome |
|
Juvenile rheumatoid arthritis |
OMIM:266270 |
| Visceral Myopathy 1 |
|
Microcolon, Vomiting, Diarrhea, Intestinal pseudo-obstruction, Gastroparesis, Megaduodenum, Thinn... |
OMIM:155310 |
| Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Macular edema, Gastrointestinal hemorrhage, Limb pain, Punctate vasculitis skin lesions, Telangie... |
OMIM:192315 |
| Cousin Syndrome |
|
Hypoplastic scapulae, Rhizomelia, Joint contracture of the hand, Hypoplastic iliac wing, Dislocat... |
OMIM:260660 |
| Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Fibular aplasia, Brachydactyly, Short phalanx of finger, Aplasia/Hypoplasia of the fibula, Split ... |
OMIM:113310 |
| Abetalipoproteinemia |
|
Osteopenia, Vomiting, Abnormal bleeding, Failure to thrive, Congestive heart failure, Fat malabso... |
ORPHA:14 |
| Becker Nevus Syndrome |
|
Lower limb asymmetry, Micromelia, Supernumerary nipple, Abnormal tibia morphology, Spina bifida o... |
ORPHA:64755 |
| Vernal Keratoconjunctivitis |
|
Red eye, Keratoconus, Abnormal cornea morphology, Allergic conjunctivitis, Corneal neovasculariza... |
ORPHA:70476 |
| Colchicine Poisoning |
|
Hypomagnesemia, Leukocytosis, Hypocalcemia, Hypokalemia, Hyponatremia, Hypophosphatemia, Abnormal... |
ORPHA:31824 |
| Cholera |
|
Hypocalcemia, Hypokalemia, Palmoplantar cutis laxa, Hyponatremia, Abnormal blood ion concentratio... |
ORPHA:173 |
| Alg6-Cdg |
|
Abnormality of the liver, Protein-losing enteropathy, Macroglossia, Jaundice |
ORPHA:79320 |
| Combined Oxidative Phosphorylation Deficiency 42 |
|
Cardiomyopathy, Intrauterine growth retardation, Neonatal death, Decreased circulating cortisol l... |
OMIM:618839 |
| Chediak-Higashi Syndrome |
|
Iris hypopigmentation, Silver-gray hair, Recurrent infections, Periodontitis, Hemophagocytosis, B... |
OMIM:214500 |
| Combined Immunodeficiency-Enteropathy Spectrum |
|
Type I diabetes mellitus, Intrauterine growth retardation, Autoimmune hemolytic anemia, Ventricul... |
ORPHA:436252 |
| Charge Syndrome |
|
Lymphopenia, Micrognathia, Cryptorchidism, Absent radius, Hypoparathyroidism, Bilateral talipes e... |
OMIM:214800 |
| Thrombotic Thrombocytopenic Purpura |
|
Diarrhea, Microangiopathic hemolytic anemia, Reticulocytosis, Arrhythmia, Thrombocytopenia, Abdom... |
ORPHA:54057 |
| Obesity Due To Congenital Leptin Deficiency |
|
Pituitary hypothyroidism, Decreased T cell activation, Decreased proportion of CD4-positive helpe... |
ORPHA:66628 |
| Combined Oxidative Phosphorylation Deficiency 40 |
|
Hypertrophic cardiomyopathy, Intrauterine growth retardation, Neonatal death, Decreased circulati... |
OMIM:618835 |
| Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature |
|
Recurrent infections, Lymphopenia, Leukopenia, Long eyelashes, Recurrent infection of the gastroi... |
OMIM:301110 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Diarrhea, Vomiting, Failure to thrive, Cardiomyopathy, Leukopenia, Feeding difficulties, Cerebell... |
OMIM:251000 |
| Thrombocytopenia 6 |
|
Myelofibrosis, Osteoporosis, Thrombocytopenia |
OMIM:616937 |
| Fanconi Anemia, Complementation Group V |
|
Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia |
OMIM:617243 |
| Velocardiofacial Syndrome |
|
Impaired T cell function, Cryptorchidism, Hypocalcemia, Talipes, Abnormality of the hand, Hypopar... |
OMIM:192430 |
| Fg Syndrome 3 |
|
Chronic constipation, Joint contracture, Pyloric stenosis |
OMIM:300406 |
| T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Hemophagocytosis, Pancytopenia, Autoimmunity, Splenomegaly, Anemia, Panniculitis |
OMIM:618398 |
| Fanconi Anemia, Complementation Group C |
|
Bone marrow hypocellularity, Absent thumb, Short thumb, Bruising susceptibility, Absent radius, P... |
OMIM:227645 |
| 2Q31.1 Microdeletion Syndrome |
|
Toe syndactyly, Finger syndactyly, Sandal gap, Camptodactyly of finger, Abnormal tibia morphology... |
ORPHA:251014 |
| Lathosterolosis |
|
Cataract, Microcornea, Toe syndactyly, Postaxial foot polydactyly, Hepatic failure, Failure to th... |
ORPHA:46059 |
| Psoriasis 14, Pustular |
|
Psoriasiform dermatitis, Leukocytosis, Pustule, Oligoarthritis, Neutrophilia, Elevated circulatin... |
OMIM:614204 |
| Autosomal Recessive Spastic Paraplegia Type 69 |
|
Abnormal myelination |
ORPHA:401830 |
| Acquired Purpura Fulminans |
|
Hepatic failure, Sepsis, Macular purpura, Shock, Skin rash, Internal hemorrhage, Thrombocytopenia... |
ORPHA:49566 |
| Immunoglobulin Kappa Light Chain Deficiency |
|
Absent circulating immunoglobulin kappa chain |
OMIM:614102 |
| Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Rickets, Recurrent fractures |
OMIM:268315 |
| Lethal Congenital Contracture Syndrome Type 1 |
|
Abnormal cortical bone morphology, Limitation of joint mobility, Recurrent fractures, Abnormality... |
ORPHA:1486 |
| Hypogonadotropic Hypogonadism 18 With Or Without Anosmia |
|
Osteoporosis, Osteopenia |
OMIM:615267 |
| Yunis-Varon Syndrome |
|
Aplasia of the distal phalanx of the hallux, Micrognathia, Cryptorchidism, Sparse eyelashes, Decr... |
ORPHA:3472 |
| Oocyte/Zygote/Embryo Maturation Arrest 17 |
|
Amenorrhea, Female infertility |
OMIM:620319 |
| Oocyte/Zygote/Embryo Maturation Arrest 20 |
|
Amenorrhea, Female infertility |
OMIM:620383 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Abnormal reticulocyte morphology, Bone marrow hypocellularity, Elliptocytosis, Macrocytic anemia,... |
OMIM:300835 |
| Maternal Uniparental Disomy Of Chromosome 6 |
|
Slender long bone, Eczematoid dermatitis, Congenital adrenal hyperplasia, Accelerated bone age af... |
ORPHA:96181 |
| Autosomal Recessive Spastic Paraplegia Type 67 |
|
Abnormal myelination |
ORPHA:401820 |
| Omenn Syndrome |
|
Pneumonia, Lymphoma, Abnormal lymphocyte morphology, Autoimmunity, Leukocytosis, Splenomegaly, An... |
ORPHA:39041 |
| Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Fat malabsorption, Jejunoileal ulceration, Small bowel diverticula |
OMIM:221400 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Histoplasmosis, Hemophagocytosis, Invasive fungal infection, Severe viral infection, Invasive par... |
ORPHA:158048 |
| Glutamine Deficiency, Congenital |
|
Micromelia, Hyperammonemia, Neonatal death, Hypoglutaminemia, Camptodactyly, Flexion contracture |
OMIM:610015 |
| Diamond-Blackfan Anemia 1 |
|
Persistence of hemoglobin F, Delayed cranial suture closure, Micrognathia, Epicanthus, Neutropeni... |
OMIM:105650 |
| Short Stature-Micrognathia Syndrome |
|
Rhizomelia, Broad femoral neck, Micrognathia, Cryptorchidism, Joint hypermobility, 2-3 toe syndac... |
OMIM:617164 |
| Tyrosinemia, Type I |
|
Gastrointestinal hemorrhage, Hepatic failure, Failure to thrive, Acute hepatic failure, Ascites, ... |
OMIM:276700 |
| Trichohepatoenteric Syndrome 1 |
|
Curly hair, Brittle hair, Sparse hair, Aortic regurgitation, Downslanted palpebral fissures, Avas... |
OMIM:222470 |
| Wolfram Syndrome 1 |
|
Cataract, Limited mobility of proximal interphalangeal joint, Cardiomyopathy, Sideroblastic anemi... |
OMIM:222300 |
| Infant Botulism |
|
Mydriasis, Hypotension, Xerostomia, Hypertension, Ptosis, Keratoconjunctivitis sicca, Constipatio... |
ORPHA:178478 |
| Moyamoya Disease With Early-Onset Achalasia |
|
Raynaud phenomenon, Hypertension, Abnormal platelet aggregation, Thrombocytopenia |
ORPHA:401945 |
| Quebec Platelet Disorder |
|
Epistaxis, Bruising susceptibility, Thrombocytopenia, Joint hemorrhage, Menorrhagia, Impaired epi... |
OMIM:601709 |
| Cystic Echinococcosis |
|
Peritoneal abscess, Abscess, Splenic cyst, Increased circulating antibody level, Eosinophilia, Me... |
ORPHA:400 |
| Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Limb undergrowth, Abnormal metaphysis morphology |
ORPHA:1861 |
| Roberts Syndrome |
|
Synostosis of carpal bones, Finger syndactyly, Micrognathia, Patellar aplasia, Cryptorchidism, Bo... |
ORPHA:3103 |
| Systemic Lupus Erythematosus |
|
Discoid lupus rash, Antineutrophil antibody positivity, Cheilitis, Leukopenia, Malar rash, Anti-S... |
ORPHA:536 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Pituitary hypothyroidism, Decreased T cell activation, Decreased proportion of CD4-positive helpe... |
ORPHA:179494 |
| Hemorrhagic Fever-Renal Syndrome |
|
Diarrhea, Decreased body weight, Pulmonary edema, Acute tubulointerstitial nephritis, Glomerulone... |
ORPHA:340 |
| Pili Torti-Onychodysplasia Syndrome |
|
Alopecia universalis, Alopecia, Palmoplantar keratoderma, Eczematoid dermatitis, Sparse body hair... |
ORPHA:2890 |
| Pfapa Syndrome |
|
Splenomegaly, Infectious encephalitis, Lymphadenopathy, Arthritis, Hepatomegaly |
ORPHA:42642 |
| Alopecia Antibody Deficiency |
|
Decreased circulating antibody level |
ORPHA:1006 |
| Onychotrichodysplasia And Neutropenia |
|
Sparse pubic hair, Trichorrhexis nodosa, Curly eyelashes, Chronic irritative conjunctivitis, Lymp... |
OMIM:258360 |
| Osteoarthritis Susceptibility 3 |
|
Joint stiffness, Osteoarthritis of the first carpometacarpal joint, Osteoarthritis of the distal ... |
OMIM:607850 |
| Gaucher Disease |
|
Gingival bleeding, Cherry red spot of the macula, Pancytopenia, Increased circulating antibody le... |
ORPHA:355 |
| Carney Triad |
|
Gastrointestinal hemorrhage, Diarrhea, Ascites, Pheochromocytoma, Nausea and vomiting, Gastrointe... |
ORPHA:139411 |
| Double Outlet Right Ventricle |
|
Hypoparathyroidism, Aplasia/Hypoplasia of the thymus, Hypocalcemia |
ORPHA:3426 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Gastroesophageal reflux, Cardiomyopathy, Sideroblastic anemia, Cryptorchidism, Thiamine-responsiv... |
OMIM:249270 |
| Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Conjugated hyperbilirubinemia, Hyperammonemia, Elevated circulating alpha-fetoprotein concentration |
OMIM:617049 |
| Werner Syndrome |
|
Osteoporosis, Joint stiffness, Increased bone mineral density |
ORPHA:902 |
| Jacobsen Syndrome |
|
Microcornea, Annular pancreas, Failure to thrive, Recurrent respiratory infections, Telecanthus, ... |
OMIM:147791 |
| Esophagitis, Eosinophilic, 2 |
|
Vomiting, Failure to thrive, Esophagitis, Eosinophilia, Dysphagia |
OMIM:613412 |
| Lacrimoauriculodentodigital Syndrome 2 |
|
Lacrimal duct aplasia, Lacrimal duct atresia, Abnormal thumb morphology, Absent lacrimal punctum,... |
OMIM:620192 |
| Esophagitis, Eosinophilic, 1 |
|
Vomiting, Failure to thrive, Esophagitis, Eosinophilia, Dysphagia |
OMIM:610247 |
| Desbuquois Dysplasia 1 |
|
Joint dislocation, Advanced tarsal ossification, Joint hypermobility, Phalangeal dislocation, Ost... |
OMIM:251450 |
| Autosomal Dominant Hypocalcemia |
|
Hyperphosphatemia, Reduced bone mineral density, Hypocalcemia, Hypomagnesemia |
ORPHA:428 |
| Autosomal Recessive Spastic Paraplegia Type 57 |
|
Abnormal myelination |
ORPHA:431329 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Diarrhea, Congestive heart failure, Paroxysmal atrial tachycardia, Megaloblastic anemia, Thromboc... |
ORPHA:49827 |
| Nephrotic Syndrome, Type 7 |
|
Membranoproliferative glomerulonephritis, Hemolytic anemia, Thrombocytopenia |
OMIM:615008 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Decreased circulating IgG level, Ventricular hypertrophy, Hepatosplenomegaly, Elliptocytosis, Ret... |
OMIM:618278 |
| Thyrocerebrorenal Syndrome |
|
Nephritis, Euthyroid goiter, Thrombocytopenia |
ORPHA:3327 |
| Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 |
|
Osteopenia, Limitation of joint mobility, Eczematoid dermatitis, Arthropathy, Wormian bones, Oste... |
OMIM:259100 |
| Spondyloarthropathy, Susceptibility To, 1 |
|
Aortic regurgitation, Hip osteoarthritis, Inflammation of the large intestine, Sacroiliac arthrit... |
OMIM:106300 |
| Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Acanthocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Poikilocytosis |
OMIM:300367 |
| Psoriasis-Related Juvenile Idiopathic Arthritis |
|
Uveitis, Limitation of joint mobility, Abnormality of tumor necrosis factor secretion, Polyarticu... |
ORPHA:85436 |
| Gm1 Gangliosidosis |
|
Coarse metaphyseal trabecularization, Abnormal epiphysis morphology, Abnormal diaphysis morpholog... |
ORPHA:354 |
| Colonic Atresia |
|
Peptic ulcer, Abdominal distention, Colonic atresia, Duodenal stenosis |
ORPHA:1198 |
| Wiedemann-Rautenstrauch Syndrome |
|
Sparse scalp hair, Increased circulating prolactin concentration, Recurrent otitis media, Slender... |
ORPHA:3455 |
| Japanese Encephalitis |
|
Neutrophilia, Increased circulating IgM level, Increased circulating antibody level |
ORPHA:79139 |
| Lesch-Nyhan Syndrome |
|
Anemia |
ORPHA:510 |
| Takenouchi-Kosaki Syndrome |
|
Eversion of lateral third of lower eyelids, Highly arched eyebrow, Sparse eyebrow, Recurrent infe... |
OMIM:616737 |
| Gitelman Syndrome |
|
Hypermagnesemia, Type I diabetes mellitus, Graves disease, Hypomagnesemia, Type II diabetes melli... |
ORPHA:358 |
| Fanconi Anemia, Complementation Group B |
|
Bilateral radial aplasia, Absent thumb, Aplastic anemia, Hypogonadism, Tracheoesophageal fistula,... |
OMIM:300514 |
| Microphthalmia, Syndromic 1 |
|
High, narrow palate, Pyloric stenosis, Microcornea, Joint contracture of the hand, Clinodactyly, ... |
OMIM:309800 |
| Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Giant cell hepatitis, Abnormal bleeding, Failure to thrive, Talipes calcaneovalgus, Micrognathia,... |
OMIM:208085 |
| Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Rhizomelia, Broad thumb, Joint hypermobility, Brachydactyly, Mesomelia |
ORPHA:171866 |
| Cold Agglutinin Disease |
|
Hepatomegaly, Hemolytic anemia, Splenomegaly, Lymphadenopathy |
ORPHA:56425 |
| Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Bone marrow hypocellularity, Oral leukoplakia, Pancytopenia, Nail dystrophy, Recurrent opportunis... |
OMIM:613987 |
| 16Q24.3 Microdeletion Syndrome |
|
Highly arched eyebrow, Dilated cardiomyopathy, Increased mean corpuscular volume, Micrognathia, A... |
ORPHA:261250 |
| Alopecia Totalis |
|
Alopecia totalis, Inflammation of the large intestine, Alopecia of scalp |
ORPHA:700 |
| Sandifer Syndrome |
|
Gastroesophageal reflux, Esophagitis, Hiatus hernia, Hematemesis, Episodic vomiting, Anemia, Feed... |
ORPHA:71272 |
| Codas Syndrome |
|
Congenital hip dislocation, Absent epiphyses, Hypoplasia of the odontoid process, Genu valgum, Cr... |
OMIM:600373 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Hypoplastic ilia, Micromelia, Short ribs, Postaxial polydactyly, Brachydactyly, Hypoplasia of the... |
OMIM:617895 |
| Omodysplasia 1 |
|
Rhizomelia, Short tibia, Limited knee flexion/extension, Limited elbow flexion, Limited hip movem... |
OMIM:258315 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Dysplasia of the femoral head, Micrognathia, Arachnodactyly, Talipes equinovarus, Radioulnar syno... |
ORPHA:536467 |
| Sitosterolemia 1 |
|
Stomatocytosis, Giant platelets, Abnormal bleeding, Xanthelasma, Reticulocytosis, Splenomegaly, A... |
OMIM:210250 |
| Nail-Patella Syndrome |
|
Contracture of the distal interphalangeal joint of the fingers, Patellar aplasia, Patellar disloc... |
ORPHA:2614 |
| Thoraco-Abdominal Enteric Duplication |
|
Intestinal malrotation, Hepatomegaly, Camptodactyly of finger, Duodenal stenosis |
ORPHA:1759 |
| Adamantinoma |
|
Pathologic fracture, Hypercalcemia |
ORPHA:55881 |
| Gaucher Disease, Type I |
|
Aortic valve stenosis, Epistaxis, Erlenmeyer flask deformity of the femurs, Pathologic fracture, ... |
OMIM:230800 |
| Autoimmune Polyendocrine Syndrome, Type Ii |
|
Cataract, Alopecia, Band keratopathy, Hepatitis, Chronic mucocutaneous candidiasis, Exocrine panc... |
OMIM:269200 |
| Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Hyperbilirubinemia |
OMIM:609734 |
| Aicardi-Goutieres Syndrome 4 |
|
Hepatosplenomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia, Feeding difficulties |
OMIM:610333 |
| Bcard Syndrome |
|
Cataract, Osteopenia, Coarse hair, Contracture of the proximal interphalangeal joint of the 2nd f... |
OMIM:612394 |
| Dpm1-Cdg |
|
Sandal gap, Long hallux, Hepatosplenomegaly, Micrognathia, Knee flexion contracture, Elevated cir... |
ORPHA:79322 |
| Spondyloepimetaphyseal Dysplasia, Genevieve Type |
|
Short femoral neck, Flared metaphysis, Irregular epiphyses, Small epiphyses, Joint hypermobility,... |
OMIM:610442 |
| Pyropoikilocytosis, Hereditary |
|
Hemolytic anemia, Microspherocytosis, Pyropoikilocytosis, Elliptocytosis |
OMIM:266140 |
| Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Microretrognathia, Clinodactyly, Periorbital dermoid cyst, Lacrimal duct stenosis, Down-sloping s... |
OMIM:615560 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Hypogonadism, Hepatosplenomegaly, Adrenal insufficiency, Reticulocytopenia, Dysplastic erythropoe... |
ORPHA:300298 |
| Hall-Riggs Syndrome |
|
Osteoporosis |
OMIM:234250 |
| Chronic Myeloid Leukemia |
|
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... |
ORPHA:521 |
| Acrofacial Dysostosis, Cincinnati Type |
|
Bilateral cryptorchidism, Femoral bowing, Micrognathia, Cryptorchidism, Acetabular dysplasia, Sin... |
OMIM:616462 |
| Hardikar Syndrome |
|
Portal inflammation, Cholestasis, Hepatosplenomegaly, Cleft soft palate, Hypersplenism, Bilateral... |
OMIM:301068 |
| Adenocarcinoma Of The Anal Canal |
|
Anal stenosis, Intestinal bleeding, Neoplasm of the liver, Neoplasm of the rectum, Anal canal ade... |
ORPHA:424016 |
| Lacrimoauriculodentodigital Syndrome |
|
Toe syndactyly, Xerostomia, Finger syndactyly, Clinodactyly, Micrognathia, Cryptorchidism, Kerato... |
ORPHA:2363 |
| Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia |
|
Axillary pterygium, Intractable diarrhea, Congenital pyloric atresia, Esophageal atresia, Arthrog... |
OMIM:226730 |
| Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Pulmonary hemorrhage, Gastrointestinal angiodysplasia, Nasal mucosa telangiectasia, High-output c... |
OMIM:187300 |
| Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbilir... |
OMIM:619662 |
| Steinert Myotonic Dystrophy |
|
Male hypogonadism, Cholelithiasis, Shoulder girdle muscle weakness, Decreased response to growth ... |
ORPHA:273 |
| Thanatophoric Dysplasia Type 2 |
|
Limitation of joint mobility, Micromelia, Joint hypermobility, Brachydactyly, Abnormal metaphysis... |
ORPHA:93274 |
| Monosomy 13Q34 |
|
Hematochezia, Epistaxis, Postaxial foot polydactyly, Horizontal eyebrow, Downslanted palpebral fi... |
ORPHA:96168 |
| Sea-Blue Histiocyte Disease |
|
Absent axillary hair, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis |
OMIM:269600 |
| Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Osteopenia, Knee dislocation, Generalized joint hypermobility, Cervical C2/C3 vertebral fusion, J... |
OMIM:618000 |
| 20Q13.33 Microdeletion Syndrome |
|
Highly arched eyebrow, Hematochezia, Small for gestational age, Downslanted palpebral fissures, F... |
ORPHA:261311 |
| Craniometadiaphyseal Osteosclerosis With Hip Dysplasia |
|
Thickened cortex of long bones, Coarse metaphyseal trabecularization, Increased bone mineral density |
OMIM:620558 |
| Liver Failure, Infantile, Transient |
|
Hypoalbuminemia, Hyperbilirubinemia |
OMIM:613070 |
| Hermansky-Pudlak Syndrome 5 |
|
Albinism, Epistaxis, Bruising susceptibility, Ocular albinism, Impaired ADP-induced platelet aggr... |
OMIM:614074 |
| Acute Panmyelosis With Myelofibrosis |
|
Bone marrow hypocellularity, Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Acute mye... |
ORPHA:86843 |
| Acrofrontofacionasal Dysostosis |
|
Short distal phalanx of finger, Broad thumb, Abnormal epiphysis morphology, Micromelia, Camptodac... |
ORPHA:1784 |
| Bruck Syndrome |
|
Pterygium, Joint stiffness, Wormian bones, Osteoporosis, Arthrogryposis multiplex congenita, Recu... |
ORPHA:2771 |
| Orofaciodigital Syndrome X |
|
Finger aplasia, Fibular aplasia, Coalescence of tarsal bones, Preaxial hand polydactyly |
OMIM:165590 |
| Micromelic Bone Dysplasia With Cloverleaf Skull |
|
Micromelia |
OMIM:156830 |
| Afibrinogenemia, Congenital |
|
Gingival bleeding, Epistaxis, Abnormal bleeding, Subdural hemorrhage, Bruising susceptibility, Pr... |
OMIM:202400 |
| Ehlers-Danlos Syndrome, Dermatosparaxis Type |
|
Osteopenia, Short toe, Micrognathia, Joint hypermobility, Limb undergrowth, Short phalanx of fing... |
OMIM:225410 |
| Raine Syndrome |
|
Micromelia, Long hallux, Micrognathia, Death in infancy, Neonatal death, Bowing of the long bones... |
OMIM:259775 |
| Lynch Syndrome |
|
Gastrointestinal hemorrhage, Neoplasm of the stomach, Adenoma sebaceum, Pituitary adenoma, Pancre... |
ORPHA:144 |
| Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Osteoporosis, Osteopenia |
ORPHA:529665 |
| Otopalatodigital Syndrome Type 2 |
|
Synostosis of carpal bones, Short thumb, Elbow dislocation, Carpal synostosis, Preaxial polydacty... |
ORPHA:90652 |
| Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Absent forearm, Patellar aplasia, Short hallux, Absent tibia, Split hand, Aplasia/Hypoplasia of t... |
OMIM:119100 |
| Caroli Syndrome |
|
Hepatic failure, Conjunctival icterus, Sepsis, Abnormal bleeding, Hypersplenism, Leukopenia, Leuk... |
ORPHA:480520 |
| Leukocyte Adhesion Deficiency, Type I |
|
Recurrent staphylococcal infections, Periodontitis, Chronic mucocutaneous candidiasis, Osteomyeli... |
OMIM:116920 |
| Idiopathic Aplastic Anemia |
|
Bone marrow hypocellularity, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Neutropenia, Anemia |
ORPHA:88 |
| Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Splenomegaly, Cholecystitis, No... |
OMIM:613470 |
| Roch-Leri Mesosomatous Lipomatosis |
|
Purpura, Thrombocytopenia |
ORPHA:529 |
| Robinow Syndrome, Autosomal Dominant 2 |
|
Short distal phalanx of finger, Broad thumb, Clinodactyly, Micrognathia, Cryptorchidism, Partial ... |
OMIM:616331 |
| Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Stomatocytosis, Splenomegaly, Conjugated hyperbilirubinemia, Hyperkalemia, Hemolytic anemia |
OMIM:608885 |
| Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome |
|
Osteoporosis |
ORPHA:71267 |
| Chronic Thromboembolic Pulmonary Hypertension |
|
Inflammation of the large intestine, Right ventricular failure, Pulmonary embolism, Congestive he... |
ORPHA:70591 |
| 12Q14 Microdeletion Syndrome |
|
Osteopoikilosis |
ORPHA:94063 |
| Juvenile Paget Disease |
|
Osteoporosis, Coarse metaphyseal trabecularization, Recurrent fractures, Cranial hyperostosis |
ORPHA:2801 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Alopecia, Sepsis, Palmoplantar keratoderma, Smooth tongue, Failure to thrive, Recurrent skin infe... |
ORPHA:79396 |
| Multiple Endocrine Neoplasia, Type I |
|
Peptic ulcer, Diarrhea, Pituitary adenoma, Increased circulating prolactin concentration, Pituita... |
OMIM:131100 |
| Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Short tibia, Micrognathia, Talipes equinovarus, Short hallux, Small thenar eminence, Mesomelic ar... |
OMIM:268305 |
| Desmosterolosis |
|
Increased bone mineral density, Osteopetrosis |
ORPHA:35107 |
| Mycetoma |
|
Painless fractures due to injury, Pathologic fracture, Osteomyelitis, Abnormality of the knee, Os... |
ORPHA:2583 |
| Poems Syndrome |
|
Polycythemia, Increased circulating prolactin concentration, Sclerosis of hand bone, Sclerosis of... |
ORPHA:2905 |
| Bleeding Disorder, Platelet-Type, 15 |
|
Epistaxis, Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggrega... |
OMIM:615193 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Elevated circulating long chain fatty acid concentration, Hyperbilirubinemia |
OMIM:614886 |
| Orofaciodigital Syndrome Type 4 |
|
Aplasia/Hypoplasia of the tibia, Finger syndactyly, Abnormal joint morphology, Micrognathia, Peri... |
ORPHA:2753 |
| Pyknoachondrogenesis |
|
Abnormal intramembranous ossification, Craniofacial hyperostosis, Short iliac bones, Micromelia, ... |
ORPHA:3003 |
| Hemochromatosis, Type 1 |
|
Ascites, Splenomegaly, Arthropathy, Cardiomegaly, Cirrhosis, Hepatomegaly, Osteoporosis, Hepatoce... |
OMIM:235200 |
| Fanconi Anemia, Complementation Group J |
|
Bone marrow hypocellularity, Short thumb |
OMIM:609054 |
| Oslam Syndrome |
|
Anemia |
OMIM:165660 |
| Pseudoxanthoma Elasticum, Forme Fruste |
|
High, narrow palate, Gastrointestinal hemorrhage, Angina pectoris, Cerebral hemorrhage, Retinal h... |
OMIM:177850 |
| Mungan Syndrome |
|
Barrett esophagus, Intestinal pseudo-obstruction, Gastroparesis, Megaduodenum, Hypoperistalsis |
OMIM:611376 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Hypoalbuminemia, Osteopenia, Rickets, Pancytopenia, Hypocalcemia, Joint hypermobility, Thin bony ... |
OMIM:613658 |
| Autosomal Recessive Spastic Paraplegia Type 70 |
|
Abnormal myelination |
ORPHA:401835 |
| Hypohidrotic Ectodermal Dysplasia |
|
Generalized hypopigmentation of hair, Xerostomia, Eczematoid dermatitis, Failure to thrive, Breas... |
ORPHA:238468 |
| Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Brain abscess, Abnormal lymph node morphology, Abnormality of the lymphatic system, Neutrophilia,... |
ORPHA:54251 |
| Kearns-Sayre Syndrome |
|
Hypoparathyroidism, Sideroblastic anemia, Primary adrenal insufficiency, Diabetes mellitus |
OMIM:530000 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Overlapping toe, Micrognathia, Contracture of the distal interphalangeal joint of the fingers, Su... |
ORPHA:83617 |
| Fanconi Anemia, Complementation Group A |
|
Absent thumb, Short thumb, Bruising susceptibility, Absent radius, Pancytopenia, Cryptorchidism, ... |
OMIM:227650 |
| Pelvis-Shoulder Dysplasia |
|
Fifth finger distal phalanx clinodactyly, Micrognathia, Talipes equinovarus, Aplasia/hypoplasia o... |
ORPHA:2839 |
| Acro-Renal-Ocular Syndrome |
|
Short distal phalanx of the thumb, Toe syndactyly, Finger syndactyly, Aplasia/Hypoplasia of the r... |
ORPHA:959 |
| Diamond-Blackfan Anemia |
|
Macrocytic dyserythropoietic anemia, Persistence of hemoglobin F, Micrognathia, Cleft soft palate... |
ORPHA:124 |
| Lichen Planus Pemphigoides |
|
Conjunctivitis, Blepharitis |
ORPHA:254478 |
| Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Pneumonia, Recurrent mycobacterial infections, Recurrent viral infections, Sepsis, Hypoplasia of ... |
ORPHA:169090 |
| Diffuse Neonatal Hemangiomatosis |
|
Anemia, Hypercalcemia, Thrombocytopenia |
ORPHA:2123 |
| Bachmann-Bupp Syndrome |
|
Hyperbilirubinemia |
OMIM:619075 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypoalbuminemia, Hypermethioninemia, Hyperbilirubinemia, Hypertyrosinemia, Conjugated hyperbiliru... |
OMIM:617156 |
| Glycogen Storage Disease Ic |
|
Inflammation of the large intestine, Recurrent upper respiratory tract infections, Spider hemangi... |
OMIM:232240 |
| Mucopolysaccharidosis, Type Iiic |
|
Diarrhea, Joint stiffness, Splenomegaly, Hepatomegaly, Dysphagia, Dense calvaria |
OMIM:252930 |
| Hoyeraal-Hreidarsson Syndrome |
|
Bone marrow hypocellularity, Generalized hypopigmentation of hair, Oral leukoplakia, Failure to t... |
ORPHA:3322 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Rhizomelia, Microretrognathia, Short tibia, Unicoronal synostosis, Preaxial polydactyly, Hypoplas... |
OMIM:616300 |
| Pancreatic Lipase Deficiency |
|
Steatorrhea, Fat malabsorption |
OMIM:614338 |
| Metachromatic Leukodystrophy |
|
Abnormal stomach morphology, Abnormal duodenum morphology, Abnormal gallbladder morphology, Hemob... |
ORPHA:512 |
| Gaucher Disease Type 3 |
|
Aortic valve calcification, Abnormal heart valve morphology, Pancytopenia, Splenomegaly, Increase... |
ORPHA:77261 |
| Hereditary Hyperekplexia |
|
Gastroesophageal reflux, Joint dislocation, Joint stiffness, Esophagitis, Hiatus hernia, Hip disl... |
ORPHA:3197 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 2 |
|
Camptodactyly, Osteoporosis |
OMIM:616006 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Anemia, Intrauterine growth retardation, Neutropenia |
OMIM:617056 |
| Developmental Dysplasia Of The Hip 2 |
|
Hip osteoarthritis, Arthritis |
OMIM:615612 |
| Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Precocious puberty, Abnormal epiphysis morphology, Micromelia, Hypoplastic iliac wing, Joint hype... |
ORPHA:2637 |
| Analbuminemia |
|
Osteoporosis |
OMIM:616000 |
| Peripartum Cardiomyopathy |
|
Mitral regurgitation, Elevated jugular venous pressure, Left bundle branch block, Tachycardia, Ri... |
ORPHA:563 |
| Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatic bridging fibrosis, Hematochezia, Intrahepatic cholestasis, Diarrhea, Hepatitis, Splenomeg... |
OMIM:613812 |
| Pallister-Hall Syndrome |
|
Toe syndactyly, Postaxial foot polydactyly, Distal shortening of limbs, Cryptorchidism, Neonatal ... |
OMIM:146510 |
| Platelet Glycoprotein Iv Deficiency |
|
Abnormal bleeding, Giant platelets, Prolonged bleeding time, Thrombocytopenia |
OMIM:608404 |
| Menke-Hennekam Syndrome 2 |
|
Short palpebral fissure, Cutaneous syndactyly of toes, Recurrent upper respiratory tract infectio... |
OMIM:618333 |
| Erythermalgia, Primary |
|
Diarrhea, Xerostomia, Palpitations, Keratoconjunctivitis sicca, Constipation |
OMIM:133020 |
| Cocaine Intoxication |
|
Pulmonary edema, Colitis, Glomerulonephritis, Tubulointerstitial nephritis, Abdominal pain, Tachy... |
ORPHA:90068 |
| Wilson Disease |
|
Hypouricemia, Hypoalbuminemia, Osteomalacia, Hyperbilirubinemia, Splenomegaly, Increased circulat... |
OMIM:277900 |
| Familial Thyroid Dyshormonogenesis |
|
Abnormal circulating thyroglobulin concentration, Neonatal hyperbilirubinemia |
ORPHA:95716 |
| Developmental Malformations-Deafness-Dystonia Syndrome |
|
Hypoplastic scapulae, Femoral retroversion, Death in early adulthood, Micromelia |
ORPHA:79107 |
| Lathosterolosis |
|
Elevated circulating lathosterol concentration, Hyperbilirubinemia, Hyperammonemia, Anisopoikiloc... |
OMIM:607330 |
| Deeah Syndrome |
|
Overlapping fingers, Cryptorchidism, Chronic constipation, Decreased body weight, Low posterior h... |
OMIM:619004 |
| Slc39A8-Cdg |
|
Osteopenia, Cutaneous syndactyly of toes, Elbow flexion contracture, Knee flexion contracture, Li... |
ORPHA:468699 |
| Transaldolase Deficiency |
|
Failure to thrive, Poor suck, Decreased liver function, Hepatosplenomegaly, Pancytopenia, Oligohy... |
OMIM:606003 |
| Fanconi-Bickel Syndrome |
|
Hypouricemia, Hyperbilirubinemia, Increased serum bile acid concentration, Hypokalemia, Hypophosp... |
OMIM:227810 |
| Tbck-Related Intellectual Disability Syndrome |
|
Clinodactyly, Abnormal circulating lipid concentration, Decreased response to growth hormone stim... |
ORPHA:488632 |
| De Sanctis-Cacchione Syndrome |
|
Keratitis, Equinovarus deformity, Bilateral cryptorchidism, Telangiectasia, Entropion, Bilateral ... |
OMIM:278800 |
| Congenital Disorder Of Glycosylation, Type Id |
|
Bifid uvula, Joint contracture of the hand, Diarrhea, Arthrogryposis multiplex congenita, Vomitin... |
OMIM:601110 |
| Spherocytosis, Type 3 |
|
Hemolytic anemia, Spherocytosis |
OMIM:270970 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatic fibrosis, Vomiting, Diarrhea, Portal fibrosis, Cholestasis, Hepatic steatosis, Splenomega... |
ORPHA:264580 |
| Kagami-Ogata Syndrome |
|
Micrognathia, Splenomegaly, Limb undergrowth, Long fingers, Flexion contracture, Coxa valga |
OMIM:608149 |
| Mucopolysaccharidosis, Type Iiib |
|
Diarrhea, Joint stiffness, Splenomegaly, Cardiomegaly, Hepatomegaly, Dense calvaria |
OMIM:252920 |
| Meier-Gorlin Syndrome 1 |
|
Small hand, Joint contracture of the hand, Elbow dislocation, Cutaneous finger syndactyly, Microg... |
OMIM:224690 |
| 4Q21 Microdeletion Syndrome |
|
Small hand, Toe syndactyly, Micromelia, Short foot, Short palm |
ORPHA:238750 |
| Caroli Disease |
|
Intrahepatic cholestasis, Cholelithiasis, Vomiting, Hepatic fibrosis, Biliary cirrhosis, Cholesta... |
ORPHA:53035 |
| Premature Ovarian Failure 22 |
|
Premature ovarian insufficiency, Female infertility, Elevated circulating follicle stimulating ho... |
OMIM:620548 |
| Trichothiodystrophy 4, Nonphotosensitive |
|
Microcornea, Trichorrhexis nodosa, Decreased fertility, Nail dystrophy, Sparse eyelashes, Epicant... |
OMIM:234050 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hypoalbuminemia, Hyperbilirubinemia, Splenomegaly, Thrombocytopenia, Elevated circulating alpha-f... |
OMIM:251880 |
| Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Gingival bleeding, Epistaxis, Stomatocytosis, Bruising susceptibility, Prolonged bleeding after d... |
OMIM:153670 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Osteopenia, Microcytic anemia, Multiple joint contractures, Generalized osteoporosis, T lymphocyt... |
ORPHA:2959 |
| Blue Diaper Syndrome |
|
Decreased circulating T4 concentration, Hypercalcemia, Hyperphosphatemia, Elevated circulating th... |
ORPHA:94086 |
| Fanconi Anemia, Complementation Group E |
|
Absent thumb, Short thumb, Bruising susceptibility, Absent radius, Pancytopenia, Cryptorchidism, ... |
OMIM:600901 |
| Neuroendocrine Tumor Of Stomach |
|
Protracted diarrhea, Nausea and vomiting, Weight loss, Anorexia, Right ventricular failure, Tricu... |
ORPHA:100075 |
| Congenital Varicella Syndrome |
|
Micromelia |
ORPHA:291 |
| Fibrochondrogenesis |
|
Hypoplastic scapulae, Micromelia, Abnormal diaphysis morphology, Camptodactyly of finger, Short r... |
ORPHA:2021 |
| Hereditary Hemorrhagic Telangiectasia |
|
Nasal mucosa telangiectasia, Telangiectasia, Retinal telangiectasia, Esophageal varix, Gastrointe... |
ORPHA:774 |
| Castleman Disease |
|
Restrictive cardiomyopathy, Increased circulating interleukin 6 concentration, Anasarca, Nausea a... |
ORPHA:160 |
| Hypoparathyroidism, X-Linked |
|
Congenital hypoparathyroidism |
OMIM:307700 |
| Biotinidase Deficiency |
|
Alopecia, Recurrent viral infections, Eczematoid dermatitis, Recurrent candida infections, Skin r... |
ORPHA:79241 |
| Gray Platelet Syndrome |
|
Epistaxis, Abnormal bleeding, Abnormal number of alpha granules, Bruising susceptibility, Impaire... |
OMIM:139090 |
| Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Osteopenia, Increased circulating cortisol level, Primary hypercortisolism, Osteoporosis, Acne |
OMIM:615830 |
| Hydatidiform Mole |
|
Anemia, Hyperthyroidism |
ORPHA:99927 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Cone-shaped epiphysis, Rhizomelic arm shortening, Iliac crest serration, Metaphyseal chondrodyspl... |
ORPHA:93317 |
| Erythrocytosis, Familial, 8 |
|
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... |
OMIM:222800 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Increased circulating free fatty acid level, Hyperammonemia, Hypocalcemia, Elevated circulating c... |
ORPHA:26793 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Elevated circulating creatinine concentration, Hyperbilirubinemia |
ORPHA:542323 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Pes cavus, Single transverse palmar crease, Talipes, Limb undergrowth, Flexion contracture, Incre... |
ORPHA:79243 |
| Gaucher Disease, Perinatal Lethal |
|
Hepatic failure, Ascites, Hepatosplenomegaly, Micrognathia, Polyhydramnios, Splenomegaly, Petechi... |
OMIM:608013 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Limitation of joint mobility, Cranial hyperostosis, Facial hyperostosis, Abnormal cortical bone m... |
ORPHA:2658 |
| Granulomatous Slack Skin |
|
Hypercalcemia, Abnormal lymph node morphology |
ORPHA:33111 |
| Aromatase Deficiency |
|
Delayed epiphyseal ossification, Osteopenia, Female infertility, Delayed skeletal maturation, Obe... |
ORPHA:91 |
| Intrahepatic Cholestasis Of Pregnancy |
|
Hyperbilirubinemia, Increased serum bile acid concentration |
ORPHA:69665 |
| Adult Acute Respiratory Distress Syndrome |
|
Pneumonia, Abnormal circulating interleukin concentration, Abnormality of tumor necrosis factor s... |
ORPHA:70578 |
| Transketolase Deficiency |
|
Cataract, Seborrheic dermatitis, Conjunctivitis, Secondary amenorrhea, Uveitis |
ORPHA:488618 |
| Von Willebrand Disease, Platelet-Type |
|
Prolonged bleeding time, Intermittent thrombocytopenia |
OMIM:177820 |
| Lacrimoauriculodentodigital Syndrome 1 |
|
Bilateral triphalangeal thumbs, Xerostomia, Lacrimal gland hypoplasia, Absence of Stensen duct, 2... |
OMIM:149730 |
| External Auditory Canal, Bilateral Atresia Of, With Congenital Vertical Talus |
|
Congenital hip dislocation, Pyloric stenosis |
OMIM:133705 |
| Xeroderma Pigmentosum, Complementation Group D |
|
Cataract, Keratitis, Corneal neovascularization, Telangiectasia, Keratoconjunctivitis sicca, Entr... |
OMIM:278730 |
| Cono-Spondylar Dysplasia |
|
Epiphyseal dysplasia, Short 4th toe, Short humerus, Brachydactyly, Short lower limbs, Cone-shaped... |
ORPHA:420794 |
| Combined Oxidative Phosphorylation Deficiency 55 |
|
Bilateral ptosis, Hypophosphatemic rickets, Epicanthus, Talipes equinovarus, Constipation, Thromb... |
OMIM:619743 |
| Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication |
OMIM:188740 |
| Hermansky-Pudlak Syndrome 9 |
|
Ocular albinism, Leukopenia, Abnormal platelet aggregation, Thrombocytopenia, Recurrent skin infe... |
OMIM:614171 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Parathyroid hypoplasia, Abnormality of T cell physiology, Hypocalcemia, Hypoparathyroidism, Hypoc... |
ORPHA:2237 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Cerebral vasculitis, Goiter, Nausea and vomiting, Leukocytosis, Hashimoto thyroiditis, Thrombocyt... |
ORPHA:83601 |
| Pseudo-Torch Syndrome 1 |
|
Cataract, Microretrognathia, Failure to thrive, Decreased liver function, Splenomegaly, Petechiae... |
OMIM:251290 |
| Fumarase Deficiency |
|
Hepatic failure, Conjunctival icterus, Polycythemia, Failure to thrive, Ascites, Polyhydramnios, ... |
OMIM:606812 |
| Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Osteomalacia, Micrognathia, Cryptorchidism, Bilateral single transverse palmar creases, Abnormal ... |
ORPHA:2636 |
| Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome |
|
Synovial lining hyperplasia, Arthropathy, Constrictive pericarditis, Generalized morning stiffnes... |
OMIM:208250 |
| Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Irregular menstruation, Highly arched eyebrow, Microcornea, Sparse pubic hair, Female infertility... |
OMIM:110100 |
| Schwartz-Jampel Syndrome |
|
Arthrogryposis multiplex congenita, Elbow dislocation, Genu valgum, Micrognathia, Hip contracture... |
ORPHA:800 |
| Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Bone marrow hypocellularity, Abnormal neutrophil morphology, Leukopenia, Abnormal erythrocyte mor... |
ORPHA:86841 |
| Hyperoxaluria, Primary, Type I |
|
Pathologic fracture, Increased bone mineral density |
OMIM:259900 |
| Adiposis Dolorosa |
|
Xerostomia, Autoimmunity, Hypothyroidism, Arthritis, Recurrent skin infections |
ORPHA:36397 |
| Ciliary Dyskinesia, Primary, 37 |
|
Goiter, Female infertility, Bronchiectasis, Chronic rhinitis |
OMIM:617577 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Highly arched eyebrow, Short palpebral fissure, Long eyelashes, Micrognathia, Decreased heart rat... |
OMIM:619005 |
| Familial Mediterranean Fever |
|
Diarrhea, Vomiting, Erysipelas, Leukocytosis, Splenomegaly, Chronic constipation, Crohn's disease... |
OMIM:249100 |
| Acute Monoblastic/Monocytic Leukemia |
|
Hypochromic anemia, Central hypothyroidism, Acute monocytic leukemia, Cervical lymphadenopathy, L... |
ORPHA:514 |
| Keratoendotheliitis Fugax Hereditaria |
|
Conjunctival hyperemia, Opacification of the corneal stroma, Keratitis |
OMIM:148200 |
| Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Anemia, Splenomegaly |
OMIM:620296 |
| Simpson-Golabi-Behmel Syndrome |
|
Polysplenia, Supernumerary nipple, Increased circulating IgE level, Cardiomyopathy, Cryptorchidis... |
ORPHA:373 |
| Atopic Keratoconjunctivitis |
|
Keratitis, Corneal scarring, Allergic conjunctivitis, Corneal neovascularization, Loss of eyelash... |
ORPHA:163934 |
| Yellow Fever |
|
Diarrhea, Pancreatic hyperplasia, Excessive bleeding after a venipuncture, Neutrophilia, Abdomina... |
ORPHA:99829 |
| Pyruvate Carboxylase Deficiency |
|
Neonatal hyperbilirubinemia, Hyperammonemia, Hyperglutamatemia, Hyperprolinemia, Hypoglutaminemia... |
ORPHA:3008 |
| Stt3B-Cdg |
|
Feeding difficulties, Failure to thrive, Cryptorchidism, Thrombocytopenia |
ORPHA:370924 |
| 19P13.3 Microduplication Syndrome |
|
Osteoporosis, Hip subluxation, Hip dislocation |
ORPHA:447980 |
| Congenital Disorder Of Glycosylation, Type Ix |
|
Feeding difficulties, Failure to thrive, Cryptorchidism, Thrombocytopenia |
OMIM:615597 |
| Diffuse Cutaneous Systemic Sclerosis |
|
Gastroesophageal reflux, Xerostomia, Autoimmunity, Arthritis, Flexion contracture, Dysphagia, Ost... |
ORPHA:220393 |
| Bardet-Biedl Syndrome |
|
Fifth finger distal phalanx clinodactyly, Inflammation of the large intestine, Finger syndactyly,... |
ORPHA:110 |
| Myelofibrosis |
|
Hemophagocytosis, Extramedullary hematopoiesis, Splenomegaly, Hepatomegaly, Myelofibrosis, Myelop... |
OMIM:254450 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Delayed puberty, Episodic hemolytic anemia, Increased blood urea nitrogen, Anhidrosis, Craniosyno... |
ORPHA:251004 |
| Carney-Stratakis Syndrome |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Gastrointestinal stroma tumor, Weight loss, ... |
ORPHA:97286 |
| Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Clinodactyly, Abnormal circulating lipid concentration, Lymphopenia, Pes cavus, Cryptorchidism, H... |
OMIM:616541 |
| Duane-Radial Ray Syndrome |
|
Radial deviation of the hand, Absent thumb, Short thumb, Sandal gap, Shoulder dislocation, Preaxi... |
OMIM:607323 |
| Gaucher Disease, Type Iii |
|
Pancytopenia, Splenomegaly, Thrombocytopenia, Decreased body weight |
OMIM:231000 |
| Ogden Syndrome |
|
Palpebral thickening, Diarrhea, Delayed cranial suture closure, Recurrent otitis media, Torsade d... |
OMIM:300855 |
| Atelis Syndrome 2 |
|
Short palpebral fissure, Gastroesophageal reflux, Clinodactyly, Micrognathia, Dacryocystocele, Ep... |
OMIM:620185 |
| Spastic Paraplegia 29, Autosomal Dominant |
|
Neonatal hyperbilirubinemia |
OMIM:609727 |
| Thrombocytopenia 2 |
|
Abnormal platelet shape, Abnormal platelet volume, Leukocytosis, Thrombocytopenia |
OMIM:188000 |
| Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Osteopenia, Hepatic fibrosis, Hepatitis, Pancreatic hypoplasia, Cholestasis, Portal hypertension,... |
OMIM:610199 |
| Elliptocytosis 1 |
|
Hemolytic anemia, Splenomegaly, Elliptocytosis |
OMIM:611804 |
| Ulnar-Mammary Syndrome |
|
Ectopic posterior pituitary, Hypoplastic scapulae, Short 5th toe, Anterior pituitary hypoplasia, ... |
OMIM:181450 |
| Arterial Tortuosity Syndrome |
|
Keratoconus, Esophagitis, Arachnodactyly, Blepharophimosis, Hip dislocation, Short palpebral fiss... |
ORPHA:3342 |
| Vici Syndrome |
|
Recurrent infections, Decreased circulating IgG level, Cataract, Recurrent respiratory infections... |
ORPHA:1493 |
| Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Sandal gap, Micromelia, Broad hallux, Single transverse palmar crease, Hyposegmentation of neutro... |
OMIM:614800 |
| Thyrocerebroretinal Syndrome |
|
Nephritis, Thrombocytopenia, Goiter |
OMIM:274240 |
| New-Onset Refractory Status Epilepticus |
|
EEG with frontal epileptiform discharges, Abnormal circulating interleukin concentration, EEG wit... |
ORPHA:363558 |
| Robinow Syndrome, Autosomal Recessive 2 |
|
Broad thumb, Clinodactyly, Prominent fingertip pads, Sandal gap, Broad hallux, Micrognathia, Brac... |
OMIM:618529 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Tricuspid regurgitation, Talipes equinovarus, Short tibia, Short femur |
OMIM:620306 |
| Cat Eye Syndrome |
|
Anal stenosis, Meckel diverticulum, Volvulus, Downslanted palpebral fissures, Intestinal malrotat... |
OMIM:115470 |
| Attrv122I Amyloidosis |
|
Aortic valve stenosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Lef... |
ORPHA:85451 |
| Truncus Arteriosus |
|
Abnormal heart morphology, Tetralogy of Fallot, Intrauterine growth retardation, Abnormal heart v... |
ORPHA:3384 |
| Neovascular Glaucoma |
|
Retinal vein occlusion, Rubeosis iridis, Uveal ectropion, Conjunctival hyperemia, Retinal vascula... |
ORPHA:94058 |
| Tropical Endomyocardial Fibrosis |
|
Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur... |
ORPHA:75565 |
| Acrocephalopolydactylous Dysplasia |
|
Hepatic fibrosis, Polysplenia, Ascites, Hypoplastic colon, Pancreatic fibrosis, Hepatomegaly, Cra... |
OMIM:200995 |
| Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Hematochezia, Abnormal bleeding, Edema, Duodenal polyposis, Multiple gastric polyps, Small intest... |
ORPHA:329971 |
| Aicardi-Goutieres Syndrome 1 |
|
Vasculitis, Cardiomyopathy, Chilblains, Splenomegaly, Petechiae, Multiple gastric polyps, Feeding... |
OMIM:225750 |
| Blue Diaper Syndrome |
|
Abnormal circulating tryptophan concentration, Hypercalcemia |
OMIM:211000 |
| Rat-Bite Fever |
|
Diarrhea, Lymphadenitis, Vomiting, Parotitis, Morbilliform rash, Abdominal aseptic abscess, Skin ... |
ORPHA:31205 |
| African Trypanosomiasis |
|
Diarrhea, Hepatosplenomegaly, Arrhythmia, Weight loss, Alopecia, Third degree atrioventricular bl... |
ORPHA:3385 |
| Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Osteoporosis, Limitation of joint mobility, Generalized osteoporosis, Pancreatitis |
OMIM:236200 |
| Lowry-Maclean Syndrome |
|
High, narrow palate, Osteopenia, Abnormality of the abdominal organs, Midgut malrotation, Osteopo... |
ORPHA:2409 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Rickets |
OMIM:616026 |
| Aicardi-Goutieres Syndrome 9 |
|
Hepatosplenomegaly, Hemolytic anemia, Chilblains, Hypothyroidism, Anemia, Osteoporosis, Acute pan... |
OMIM:619487 |
| Nijmegen Breakage Syndrome |
|
Recurrent pneumonia, Acute leukemia, Anal stenosis, Recurrent respiratory infections, Abnormal ha... |
ORPHA:647 |
| Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Malabsorption, Chronic diarrhea, Cachexia, Ptosis, Brachydactyly, Steatorrhea, Duodenal ulcer, Sh... |
ORPHA:3217 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 3 |
|
Perioral eczema, Diarrhea, Anoperineal fistula, Recurrent aphthous stomatitis, Recurrent sinusiti... |
OMIM:613960 |
| Alveolar Echinococcosis |
|
Cutaneous abscess, Increased circulating antibody level, Eosinophilia, Abnormal spleen morphology... |
ORPHA:284 |
| Camptodactyly Syndrome, Guadalajara Type 3 |
|
Osteopenia, Small hand, Broad femoral neck, Distal shortening of limbs, Thickened cortex of long ... |
ORPHA:488434 |
| Spondylo-Ocular Syndrome |
|
Osteoporosis, Joint hypermobility |
ORPHA:85194 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Increased total bilirubin, Elevated circulating creatinine concentration, Decreased plasma free c... |
OMIM:608836 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Feeding difficulties, Thick eyebrow, Short humerus, Epiblepharon, Dysphagia, Short femur, Tapered... |
OMIM:618367 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Leukopenia, Elliptocytosis, Anisocytosis, Hypochromia, Poikilocytosis, Anemia, Thrombocytopenia, ... |
OMIM:616959 |
| Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Osteopenia, Increased circulating cortisol level, Primary hypercortisolism, Pancreatitis, Osteopo... |
OMIM:610475 |
| Ulnar-Mammary Syndrome |
|
Short distal phalanx of finger, Camptodactyly of finger, Breast aplasia, Absent hand, Abnormality... |
ORPHA:3138 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Autoimmunity, Skin rash, Increased inflammatory response, Myositis, Myocarditis, Eosinophilia, Ar... |
ORPHA:183 |
| Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Congestive heart failure, Mitral stenosi... |
OMIM:264800 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Generalized osteoporosis, Osteopenia, Multiple joint dislocation, Knee dislocation, Elbow flexion... |
OMIM:245600 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Short humerus, Neonatal death, Hand polydactyly, Absent radius, Proximal placement of thumb |
OMIM:314390 |
| 9Q33.3Q34.11 Microdeletion Syndrome |
|
Highly arched eyebrow, Epistaxis, Bilateral coxa valga, Patellar hypoplasia, Telecanthus, Esophag... |
ORPHA:495818 |
| Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Polysplenia, Duodenal atresia, Intestinal malrotation, Chronic sinusitis, Chronic otitis media |
OMIM:619608 |
| Digeorge Syndrome |
|
Cholelithiasis, Parathyroid hypoplasia, Impaired T cell function, Micrognathia, Splenomegaly, Ova... |
OMIM:188400 |
| Xeroderma Pigmentosum, Complementation Group A |
|
Keratitis, Pes cavus, Telangiectasia, Entropion, Ectropion, Conjunctivitis |
OMIM:278700 |
| Mucopolysaccharidosis, Type Iiia |
|
Diarrhea, Joint stiffness, Splenomegaly, Hepatomegaly, Dense calvaria |
OMIM:252900 |
| Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Abnormal myelination |
ORPHA:85179 |
| Attenuated Familial Adenomatous Polyposis |
|
Thyroid adenoma, Duodenal polyposis, Astrocytoma, Large intestinal polyposis, Papilloma, Fibroma,... |
ORPHA:220460 |
| Acute Radiation Syndrome |
|
Cataract, Hypotension, Inflammatory abnormality of the skin, Diarrhea, Vomiting, Abnormal bleedin... |
ORPHA:454831 |
| Congenital Pulmonary Lymphangiectasia |
|
Ascites, Hepatomegaly, Gastroesophageal reflux, Splenomegaly |
ORPHA:2414 |
| Hemophilia A |
|
Gingival bleeding, Epistaxis, Bruising susceptibility, Petechiae, Muscle hemorrhage, Persistent b... |
OMIM:306700 |
| Desmosterolosis |
|
Joint contracture of the hand, Generalized osteosclerosis, Arthrogryposis multiplex congenita |
OMIM:602398 |
| Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Osteopenia, Recurrent pneumonia, Joint subluxation, Joint dislocation, Hip subluxation, Elbow fle... |
ORPHA:1900 |
| Xeroderma Pigmentosum, Variant Type |
|
Keratitis, Cutaneous telangiectasia, Entropion, Ectropion, Conjunctivitis |
OMIM:278750 |
| Occipital Horn Syndrome |
|
Decreased circulating ceruloplasmin concentration, Genu valgum, Limited elbow extension, Short hu... |
OMIM:304150 |
| Ring Chromosome Y Syndrome |
|
Male hypogonadism, Female infertility, Obesity, Streak ovary, Azoospermia, Cryptorchidism, Abnorm... |
ORPHA:261529 |
| Functioning Gonadotropic Adenoma |
|
Osteopenia, Decreased response to growth hormone stimulation test, Panhypopituitarism, Adrenocort... |
ORPHA:91348 |
| Noonan Syndrome 1 |
|
Clinodactyly, Micrognathia, Cryptorchidism, Synovitis, Epicanthus, Feeding difficulties in infanc... |
OMIM:163950 |
| Tufted Angioma |
|
Hypertrichosis, Petechiae, Thrombocytopenia, Anemia, Purpura |
ORPHA:1063 |
| Oculomaxillofacial Dysostosis |
|
Camptodactyly of finger, Micrognathia, Adducted thumb, Brachydactyly, Abnormality of the humerus |
ORPHA:1794 |
| Pancreas, Annular |
|
Annular pancreas, High intestinal obstruction, Duodenal stenosis |
OMIM:167750 |
| Annular Pancreas |
|
Annular pancreas, High intestinal obstruction, Duodenal stenosis |
ORPHA:675 |
| Ifap Syndrome 2 |
|
Cataract, Atrichia, Posterior blepharitis, Keratitis, Nail dystrophy, Angular cheilitis, Keratoco... |
OMIM:619016 |
| Familial Mediterranean Fever |
|
Diarrhea, Erysipelas, Oral leukoplakia, Ascites, Gastrointestinal infarctions, Leukocytosis, Skin... |
ORPHA:342 |
| Melioidosis |
|
Pneumonia, Brain abscess, Foot osteomyelitis, Cutaneous abscess, Parotitis, Hepatitis, Abnormalit... |
ORPHA:31202 |
| Hypercalcemia, Infantile, 1 |
|
Hypercalcemia, Decreased circulating parathyroid hormone level |
OMIM:143880 |
| X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Meckel diverticulum, Dysphagia |
ORPHA:163961 |
| Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia |
|
Congenital pyloric atresia, Esophageal stenosis |
OMIM:619817 |
| Houge-Janssens Syndrome 1 |
|
Congenital hip dislocation, Chronic diarrhea, Pyloric stenosis |
OMIM:616355 |
| Acute Liver Failure |
|
Gastrointestinal hemorrhage, Diarrhea, Vomiting, Hepatitis, Hypotension, Abnormal bleeding, Shock... |
ORPHA:90062 |
| Lysinuric Protein Intolerance |
|
Diarrhea, Vomiting, Hemophagocytosis, Delayed skeletal maturation, Malnutrition, Fine hair, Failu... |
OMIM:222700 |
| Kinsship Syndrome |
|
Osteopenia, Micrognathia, Single transverse palmar crease, Polydactyly, Fibular hypoplasia, Death... |
OMIM:619297 |
| Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Osteoporosis, Osteopenia, Increased susceptibility to fractures |
OMIM:612286 |
| Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Premature ovarian insufficiency, Female infertility, Failure to thrive, Poor suck |
OMIM:619518 |
| Hyperlipoproteinemia, Type Id |
|
Failure to thrive, Splenomegaly, Recurrent pancreatitis, Pancreatitis, Lipemia retinalis, Colitis |
OMIM:615947 |
| Menkes Disease |
|
Osteoporosis, Wormian bones, Joint hypermobility |
OMIM:309400 |
| Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Neonatal hyperbilirubinemia |
ORPHA:73272 |
| Ovalocytosis, Southeast Asian |
|
Hemolytic anemia, Elliptocytosis |
OMIM:166900 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Sparse eyebrow, Ectopic lacrimal punctum, Telecanthus, Lower eyelid coloboma, Absent lacrimal pun... |
OMIM:167730 |
| Femur, Unilateral Bifid, With Monodactylous Ectrodactyly |
|
Bifid femur, Aplasia of the ulna, Absent tibia, Split hand, Hand monodactyly, Foot monodactyly |
OMIM:228250 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Short tibia, Preaxial polydactyly, Micrognathia, Absent gallbladder, Fibular hypoplasia, Postaxia... |
OMIM:617925 |
| Xeroderma Pigmentosum, Complementation Group E |
|
Keratitis, Telangiectasia, Entropion, Ectropion, Conjunctivitis |
OMIM:278740 |
| Chylomicron Retention Disease |
|
Diarrhea, Vomiting, Acanthocytosis, Hepatic steatosis, Steatorrhea, Fat malabsorption, Increased ... |
ORPHA:71 |
| Nivelon-Nivelon-Mabille Syndrome |
|
Micromelia, Elevated circulating creatine kinase concentration, Brachydactyly, Short phalanx of f... |
OMIM:600092 |
| Hereditary Orotic Aciduria |
|
Anemia, Splenomegaly, Impaired T cell function |
ORPHA:30 |
| Microcephalic Primordial Dwarfism, Dauber Type |
|
Madelung deformity, Limb undergrowth, Bilateral breast hypoplasia, Hip dysplasia, Clinodactyly of... |
ORPHA:319675 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Dilated cardiomyopathy, Failure to thrive, Hypertrophic cardiomyopathy, Abnormal rectum morpholog... |
ORPHA:2556 |
| Ovarian Dysgenesis 8 |
|
Osteoporosis, Elevated circulating luteinizing hormone level, Elevated circulating follicle stimu... |
OMIM:618187 |
| Reynolds Syndrome |
|
Gastrointestinal hemorrhage, Palmar telangiectasia, Lymphopenia, Splenomegaly, Lip telangiectasia... |
OMIM:613471 |
| Non-Functioning Paraganglioma |
|
Hypercalcemia, Paraganglioma, Episodic hyperhidrosis, Paraganglioma of head and neck |
ORPHA:94080 |
| Congenital Myopathy 22A, Classic |
|
Knee contracture, Hip contracture, Achilles tendon contracture, Osteoporosis, Congenital finger f... |
OMIM:620351 |
| Acth-Independent Macronodular Adrenal Hyperplasia |
|
Osteoporosis, Osteopenia, Primary hypercortisolism, Increased circulating cortisol level |
OMIM:219080 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Lambdoidal craniosynostosis, Osteopenia, Ankle clonus, Metopic synostosis, Osteoporosis |
OMIM:615398 |
| Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Bifid uvula, Recurrent otitis media, Joint hypermobility, High palate, Cleft palate, Pyloric sten... |
ORPHA:96184 |
| Hereditary Mixed Polyposis Syndrome |
|
Hematochezia, Abnormal bleeding, Colon cancer, Adenomatous colonic polyposis, Duodenal adenocarci... |
ORPHA:157794 |
| Cantu Syndrome |
|
Osteoporosis |
OMIM:239850 |
| Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Spontaneous hemolytic crises, Hepatosplenomegaly, Stomatocytosis, Conjugated hyperbilirubinemia |
ORPHA:168577 |
| Fusariosis |
|
Pneumonia, Keratitis, Granuloma, Brain abscess, Fasciitis, Osteomyelitis, Abnormality of the sple... |
ORPHA:228119 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Decreased circulating iron concentration, Pancytopenia, Leukopenia, Erythroid hyperplasia, Reticu... |
ORPHA:447 |
| Ziegler-Huang Syndrome |
|
Bone marrow hypocellularity, Persistence of hemoglobin F, Hypogonadism, Cryptorchidism, Macrocyti... |
OMIM:620501 |
| Sickle Cell Disease |
|
Splenic infarction, Cholelithiasis, Increased red cell sickling tendency, Leukocytosis, Splenomeg... |
OMIM:603903 |
| Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Hepatomegaly, Lymphadenopathy, Splenomegaly, Autoimmune hemolytic anemia |
OMIM:619183 |
| Paroxysmal Hemicrania |
|
Stiff neck, Nausea and vomiting, Conjunctival hyperemia, Ptosis, Palpebral edema, Rhinitis, Hyper... |
ORPHA:157835 |
| Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive |
|
Ankle flexion contracture, Elbow flexion contracture, Knee flexion contracture, Dysphagia, Pylori... |
OMIM:619461 |
| Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Limitation of joint mobility, Camptodactyly of finger, Duodenal stenosis |
ORPHA:2547 |
| 3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form |
|
Gastroesophageal reflux, Vomiting, Failure to thrive, Hypogonadism, Esophagitis, Megaloblastic an... |
ORPHA:79351 |
| Pituitary Hormone Deficiency, Combined, 6 |
|
Hyperbilirubinemia |
OMIM:613986 |
| Brain-Lung-Thyroid Syndrome |
|
Elevated circulating thyroid-stimulating hormone concentration, Congenital hypothyroidism, Abnorm... |
ORPHA:209905 |
| Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Secondary growth hormone deficiency, Anterior hypopituitarism, Osteoporosis, Reduced bone mineral... |
ORPHA:2235 |
| Xeroderma Pigmentosum, Complementation Group C |
|
Keratitis, Telangiectasia, Entropion, Ectropion, Conjunctivitis |
OMIM:278720 |
| Melas |
|
Type I diabetes mellitus, Type II diabetes mellitus, Hypogonadotropic hypogonadism, Recurrent pan... |
ORPHA:550 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Gastroesophageal reflux, Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction,... |
OMIM:201475 |
| Adams-Oliver Syndrome 6 |
|
Hepatic fibrosis, Portal hypertension, Splenomegaly, Esophageal varix |
OMIM:616589 |
| Absent Radius-Anogenital Anomalies Syndrome |
|
Ectrodactyly, Oligodactyly, Oligohydramnios, Perineal fistula, Hypoplasia of the radius, Rectal a... |
ORPHA:3016 |
| Cystinosis |
|
Rickets |
ORPHA:213 |
| Hypogonadotropic Hypogonadism 9 With Or Without Anosmia |
|
Osteoporosis |
OMIM:614838 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Neonatal hyperbilirubinemia, Hyperalaninemia, Hyperuricemia |
ORPHA:348 |
| Hellp Syndrome |
|
Generalized edema, Hypotension, Vomiting, Microangiopathic hemolytic anemia, Hemolytic anemia, Pl... |
ORPHA:244242 |
| Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Hypoalbuminemia, Conjugated hyperbilirubinemia, Hyperammonemia, Decreased serum zinc |
OMIM:617093 |
| Wolfram Syndrome, Mitochondrial Form |
|
Sideroblastic anemia, Neutropenia, Megaloblastic anemia, Thrombocytopenia |
OMIM:598500 |
| Mowat-Wilson Syndrome |
|
Aortic valve stenosis, Recurrent otitis media, Genu valgum, Cryptorchidism, Decreased body weight... |
ORPHA:2152 |
| Ulnar Agenesis And Endocardial Fibroelastosis |
|
Finger aplasia, Aplasia of the ulna, Neonatal death |
OMIM:276822 |
| Gaucher Disease, Type Ii |
|
Gastroesophageal reflux, Bronchiolitis, Failure to thrive, Splenomegaly, Thrombocytopenia, Protub... |
OMIM:230900 |
| Epidermolysis Bullosa, Junctional 1B, Severe |
|
Pyloric stenosis |
OMIM:226700 |
| Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Osteopenia, Systemic lupus erythematosus, Pathologic fracture, Hypersplenism, Interstitial pneumo... |
ORPHA:77293 |
| Spondyloocular Syndrome |
|
Cataract, Posterior subcapsular cataract, Osteopenia, Lymphedema, Overlapping toe, Decreased body... |
OMIM:605822 |
| Geleophysic Dysplasia 3 |
|
Epiphyseal dysplasia, Limited elbow movement, Limb undergrowth, Brachydactyly, Short foot, Limite... |
OMIM:617809 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Increased mean corpuscular volume, Pancytopenia, Megaloblastic anemia, Thrombocytopenia, Feeding ... |
OMIM:613839 |
| Melnick-Needles Syndrome |
|
Craniofacial hyperostosis, Delayed cranial suture closure, Abnormal cortical bone morphology, Joi... |
ORPHA:2484 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 3 |
|
Protein-losing enteropathy |
OMIM:618154 |
| Dextrocardia |
|
Congenital hip dislocation, Meckel diverticulum, Abnormality of abdominal situs, Pancreatic hypop... |
ORPHA:1666 |
| Xp21 Deletion Syndrome |
|
Recurrent otitis media, Adrenal insufficiency, Primary adrenal insufficiency, Joint hypermobility... |
ORPHA:261476 |
| Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
High, narrow palate, Gastroesophageal reflux, Lower limb asymmetry, Clinodactyly, Delayed skeleta... |
ORPHA:96182 |
| Myotonic Dystrophy 2 |
|
Decreased circulating total IgM, Decreased circulating IgG level |
OMIM:602668 |
| Premature Ovarian Failure 6 |
|
Elevated circulating luteinizing hormone level, Female infertility, Streak ovary, Elevated circul... |
OMIM:612310 |
| Estrogen Resistance Syndrome |
|
Delayed epiphyseal ossification, Osteopenia, Increased circulating gonadotropin level, Osteoporos... |
ORPHA:785 |
| Distal Xq28 Microduplication Syndrome |
|
Neonatal hyperbilirubinemia |
ORPHA:293939 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Conjugated hyperbilirubinemia |
OMIM:613404 |
| Acyl-Coa Dehydrogenase 9 Deficiency |
|
Dilated cardiomyopathy, Failure to thrive, Congestive heart failure, Acute hepatic failure, Hyper... |
ORPHA:99901 |
| Werner Syndrome |
|
Osteoporosis, Elevated hemoglobin A1c, Reduced bone mineral density |
OMIM:277700 |
| Congenital Analbuminemia |
|
Miscarriage, Increased circulating antibody level |
ORPHA:86816 |
| Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Osteoporosis |
OMIM:610628 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
| Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
3-4 finger syndactyly, Short tibia, Short toe, Absent hallux, Oligodactyly, Ectrodactyly, Contrac... |
OMIM:612576 |
| Idiopathic Juvenile Osteoporosis |
|
Osteoporosis, Recurrent fractures |
ORPHA:85193 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatic fibrosis, Vomiting, Diarrhea, Splenomegaly, Nausea, Anemia, Hepatocellular adenoma, Cirrh... |
ORPHA:79240 |
| Fg Syndrome Type 1 |
|
Abnormal large intestine morphology, Gastroesophageal reflux, Limited elbow extension and supinat... |
ORPHA:93932 |
| Cornelia De Lange Syndrome |
|
Small hand, Toe syndactyly, Elbow dislocation, Micrognathia, Cryptorchidism, Talipes, Radioulnar ... |
ORPHA:199 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Failure to thrive, Pancytopenia, Leukopenia, Pulmonary arterial hypertension, Thrombocytopenia, A... |
OMIM:613845 |
| Copper Deficiency, Familial Benign |
|
Anemia |
OMIM:121270 |
| Familial Tumoral Calcinosis |
|
Neoplasm of the skin, Hyperostosis, Skin rash, Splenomegaly, Hepatomegaly |
ORPHA:53715 |
| Familial Hypocalciuric Hypercalcemia |
|
Peptic ulcer, Chondrocalcinosis, Osteomalacia, Nausea and vomiting, Episodic abdominal pain, Panc... |
ORPHA:405 |
| Peroxisome Biogenesis Disorder 13A (Zellweger) |
|
Increased circulating very long-chain fatty acid concentration, Conjugated hyperbilirubinemia |
OMIM:614887 |
| Mucopolysaccharidosis, Type Iva |
|
Recurrent pneumonia, Ulnar deviation of the wrist, Genu valgum, Joint hypermobility, Cervical sub... |
OMIM:253000 |
| Mohr-Tranebjaerg Syndrome |
|
Agammaglobulinemia, Ankle clonus, Dysphagia, Aspiration pneumonia |
ORPHA:52368 |
| Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome |
|
Aplasia of the thymus |
ORPHA:3004 |
| Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Osteopenia, Elbow flexion contracture, Osteoporosis, Flexion contracture, Hip dislocation, Pylori... |
OMIM:614438 |
| Nestor-Guillermo Progeria Syndrome |
|
Pathologic fracture, Joint stiffness, Mandibular osteolysis, Limited elbow movement, Wide cranial... |
OMIM:614008 |
| Fraser Syndrome 2 |
|
Intestinal malrotation, Cryptophthalmos, Oligohydramnios, Low anterior hairline, Hypoplasia of th... |
OMIM:617666 |
| Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Highly arched eyebrow, Bifid uvula, Hypertrophic cardiomyopathy, Conjunctival hyperemia, 2-3 toe ... |
OMIM:619121 |
| Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Hepatic failure, Hepatosplenomegaly, Esophagitis, Oligohydramnios, Joint hypermobility, Drumstick... |
ORPHA:541423 |
| Kikuchi-Fujimoto Disease |
|
Vasculitis, Alopecia, Anorexia, Leukopenia, Malar rash, Pleural effusion, Splenomegaly, Skin rash... |
ORPHA:50918 |
| Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Localized osteoporosis |
ORPHA:199354 |
| Microvillus Inclusion Disease |
|
Diarrhea, Villous atrophy, Abnormal small intestinal villus morphology |
ORPHA:2290 |
| Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Osteoporosis, Joint contracture |
OMIM:615381 |
| Premature Ovarian Failure 20 |
|
Elevated circulating luteinizing hormone level, Female infertility, Elevated circulating follicle... |
OMIM:619938 |
| Musculocontractural Ehlers-Danlos Syndrome |
|
Malrotation of small bowel, Abnormal mesentery morphology, Recurrent joint dislocation, Generaliz... |
ORPHA:2953 |
| Hemochromatosis, Type 2A |
|
Splenomegaly, Arthritis |
OMIM:602390 |
| Hypercalcemia, Infantile, 2 |
|
Hypophosphatemia, Hypercalcemia |
OMIM:616963 |
| Martinez-Frias Syndrome |
|
Annular pancreas, Pancreatic hypoplasia, Intestinal malrotation, Jejunal atresia, Tracheoesophage... |
OMIM:601346 |
| Cockayne Syndrome |
|
Lentiglobus, Dry hair, Cryptorchidism, Feeding difficulties in infancy, Cachexia, Corneal ulcerat... |
ORPHA:191 |
| Premature Ovarian Failure 13 |
|
Amenorrhea, Oligomenorrhea, Female infertility, Elevated circulating follicle stimulating hormone... |
OMIM:617442 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
| Acute Adrenal Insufficiency |
|
Normocytic anemia, Androgen insufficiency, Increased circulating ACTH level, Primary adrenal insu... |
ORPHA:95409 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Posterior uveitis, Normocytic anemia, Nongranulomatous uveitis, Panuveitis, Reduced hematocrit, S... |
ORPHA:91500 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Decreased circulating complement factor B concentration, Diarrhea, Microangiopathic hemolytic ane... |
OMIM:235400 |
| Takayasu Arteritis |
|
Increased inflammatory response, Anemia, Hyperhidrosis, Arthritis, Inflammatory abnormality of th... |
ORPHA:3287 |
| Pseudo-Torch Syndrome 3 |
|
Lymphadenitis, Leukocytosis, Congenital thrombocytopenia, Cerebral hemorrhage, Anemia, Hypertension |
OMIM:618886 |
| Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Eversion of lateral third of lower eyelids, Highly arched eyebrow, Sparse eyebrow, Recurrent infe... |
ORPHA:487796 |
| Neuroblastoma |
|
Abnormal bleeding, Pathologic fracture, Weight loss, Horner syndrome, Thrombocytopenia, Abdominal... |
ORPHA:635 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Cholelithiasis, Hypertrophic cardiomyopathy, Alopecia totalis, Persistent fetal circulation, Feed... |
OMIM:618775 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Ascites, Villous atrophy, Splenomegaly, Hepatomegaly, Hip dislocation |
OMIM:608776 |
| Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Bone marrow hypocellularity, Hepatosplenomegaly, Portal hypertension, Thrombocytopenia |
ORPHA:210136 |
| Ectodermal Dysplasia-Blindness Syndrome |
|
Cataract, Microcornea, Fine hair, Keratoconjunctivitis sicca, Sclerocornea, Recurrent respiratory... |
ORPHA:1806 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Small hand, Epicanthus, Feeding difficulties in infancy, Anal atresia, High palate, Short foot, D... |
ORPHA:280633 |
| Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume |
ORPHA:494444 |
| Perrault Syndrome 4 |
|
Increased circulating gonadotropin level, Osteoporosis, Cubitus valgus |
OMIM:615300 |
| Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Toe clinodactyly, Sandal gap, Hypocalcemia, Joint hypermobility, Cutaneous syndactyly, Long fingers |
OMIM:620330 |
| Esophageal Atresia |
|
Clinodactyly, Esophagitis, Abnormal gastrointestinal tract morphology, Feeding difficulties in in... |
ORPHA:1199 |
| Geroderma Osteodysplastica |
|
Hip dislocation, Joint hypermobility, Abnormal bone ossification, Osteoporosis, Recurrent fractures |
ORPHA:2078 |
| Methylmalonic Aciduria, Cblb Type |
|
Vomiting, Dilated cardiomyopathy, Failure to thrive, Pancytopenia, Feeding difficulties in infanc... |
OMIM:251110 |
| Congenital Tracheal Stenosis |
|
Fetal ascites, Meckel diverticulum, Duodenal stenosis, Abnormal stomach morphology, Abnormal gast... |
ORPHA:141127 |
| Fanconi-Bickel Syndrome |
|
Osteopenia, Rickets |
ORPHA:2088 |
| Meige Disease |
|
Lymph node hypoplasia, Absence of lymph node germinal center |
ORPHA:90186 |
| Johanson-Blizzard Syndrome |
|
Exocrine pancreatic insufficiency, Cryptorchidism, Splenomegaly, Primary hypothyroidism, Single t... |
OMIM:243800 |
| Amish Lethal Microcephaly |
|
Osteoporosis, Limitation of joint mobility, Decreased skull ossification |
ORPHA:99742 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Type I diabetes mellitus, Lymphopenia, Cryptorchidism, Thrombocytopenia, Anemia |
OMIM:620365 |
| Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Epistaxis, Impaired collagen-induced platelet aggregation, Acute monocytic leukemia, Bruising sus... |
OMIM:601399 |
| Orofaciodigital Syndrome Type 2 |
|
Polysyndactyly of hallux, Finger syndactyly, Short tibia, Complete duplication of hallux phalanx,... |
ORPHA:2751 |
| Shashi-Pena Syndrome |
|
Cervical C2/C3 vertebral fusion, Osteoporosis |
OMIM:617190 |
| Ellis Van Creveld Syndrome |
|
Short distal phalanx of finger, Abnormal pelvic girdle bone morphology, Acute leukemia, Synostosi... |
ORPHA:289 |
| Sclerosing Cholangitis, Neonatal |
|
Hepatic bridging fibrosis, Portal fibrosis, Biliary cirrhosis, Cholestasis, Ascites, Portal hyper... |
OMIM:617394 |
| Mucopolysaccharidosis, Type Ivb |
|
Joint stiffness, Genu valgum, Joint hypermobility, Cervical subluxation, Osteoporosis, Ulnar devi... |
OMIM:253010 |
| Diamond-Blackfan Anemia 6 |
|
Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F |
OMIM:612561 |
| Localized Scleroderma |
|
Fasciitis, Sclerosis of finger phalanx, Autoimmunity, Esophagitis, Hashimoto thyroiditis, Arthrit... |
ORPHA:90289 |
| Acro-Renal-Mandibular Syndrome |
|
Hypoplastic scapulae, Finger syndactyly, Rudimentary fibula, Rudimentary to absent tibiae, Microg... |
ORPHA:958 |
| Dietary Iron Overload Disease |
|
Hepatitis, Increased circulating cortisol level, Peritonitis, Osteoporosis, Viral hepatitis |
ORPHA:139507 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia |
OMIM:612924 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia |
OMIM:612923 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia |
OMIM:612922 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia |
OMIM:612926 |
| Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Hyperaldosteronism, Hypocalcemic tetany, Hypocalcemia, Hypomagnesemia |
ORPHA:73224 |
| Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Diarrhea, Micronodular cirrho... |
OMIM:619849 |
| Hyperzincemia With Functional Zinc Depletion |
|
Osteoporosis, Skin rash |
OMIM:601979 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Micromelia, Finger syndactyly, Micrognathia, Talipes, Aplasia/Hypoplasia of the thumb, Mesomelia |
ORPHA:1908 |
| Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Supernumerary lacrimal punctum, Elevated circulating luteinizing hormone level, Lacrimal gland hy... |
ORPHA:572333 |
| Adams-Oliver Syndrome 5 |
|
Hypersplenism, Splenomegaly, Portal vein thrombosis, Esophageal varix, Right ventricular hypertro... |
OMIM:616028 |
| Cockayne Syndrome Type 3 |
|
Lentiglobus, Cataract, Microcornea, Gastroesophageal reflux, Dry hair, Subdural hemorrhage, Cardi... |
ORPHA:90324 |
| Neuroendocrine Tumor Of The Rectum |
|
Hematochezia, Melena, Lack of bowel sounds, Right ventricular failure, Hypotension, Tenesmus, Hyp... |
ORPHA:100081 |
| Neuroendocrine Tumor Of Anal Canal |
|
Hematochezia, Melena, Lack of bowel sounds, Right ventricular failure, Hypotension, Tenesmus, Hyp... |
ORPHA:100082 |
| Letterer-Siwe Disease |
|
Anemia, Hepatosplenomegaly, Neutropenia, Thrombocytopenia |
OMIM:246400 |
| Chromosome 19Q13.11 Deletion Syndrome, Proximal |
|
Pyloric stenosis |
OMIM:617219 |
| Cog8-Cdg |
|
Protein-losing enteropathy |
ORPHA:95428 |
| Thrombocytopenia 4 |
|
Abnormal platelet volume, Thrombocytopenia |
OMIM:612004 |
| Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Feeding difficulties, Cardiomyopathy, Thrombocytopenia |
OMIM:617710 |
| Pontocerebellar Hypoplasia, Type 2E |
|
Osteoporosis, Flexion contracture |
OMIM:615851 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Craniosynostosis, Gastroesophageal reflux, Cleft palate, Pyloric stenosis |
ORPHA:261197 |
| Proprotein Convertase 1/3 Deficiency |
|
Diarrhea, Villous atrophy |
OMIM:600955 |
| Hereditary Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:621 |
| Floating-Harbor Syndrome |
|
Precocious puberty, Clinodactyly, Short thumb, Avascular necrosis of the capital femoral epiphysi... |
ORPHA:2044 |
| Pitt-Hopkins Syndrome |
|
Small hand, Gastroesophageal reflux, Failure to thrive, Finger clinodactyly, Supernumerary nipple... |
ORPHA:2896 |
| Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Osteoporosis, Osteopenia, Primary hypercortisolism, Increased circulating cortisol level |
OMIM:610489 |
| Platelet Disorder, Undefined |
|
Abnormal bleeding, Prolonged bleeding time, Thrombocytopenia, Impaired platelet aggregation |
OMIM:173420 |
| Methylmalonic Aciduria, Cbla Type |
|
Vomiting, Failure to thrive, Pancytopenia, Feeding difficulties in infancy, Thrombocytopenia, Neu... |
OMIM:251100 |
| Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome |
|
Atopic dermatitis, Diarrhea, Vomiting, Thrombocytopenia, Hypochromic microcytic anemia |
ORPHA:3240 |
| Treacher-Collins Syndrome |
|
Branchial fistula, Encephalocele, Cryptorchidism, Hypoplasia of the thymus, Abnormality of the ad... |
ORPHA:861 |
| Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion |
|
Posterior polar cataract, Intestinal bleeding, Downslanted palpebral fissures, Adenomatous coloni... |
ORPHA:261584 |
| Mosaic Trisomy 9 |
|
Limitation of joint mobility, Deep plantar creases, Finger clinodactyly, Camptodactyly of finger,... |
ORPHA:99776 |
| Apert Syndrome |
|
Delayed epiphyseal ossification, Bifid uvula, Lambdoidal craniosynostosis, Coronal craniosynostos... |
OMIM:101200 |
| Parenteral Nutrition-Associated Cholestasis |
|
Hyperlipidemia, Conjugated hyperbilirubinemia, Splenomegaly, Abnormal circulating fatty-acid conc... |
ORPHA:567983 |
| Imerslund-Grasbeck Syndrome 2 |
|
Anemia, Megaloblastic anemia |
OMIM:618882 |
| Peroxisome Biogenesis Disorder 3B |
|
Osteoporosis |
OMIM:266510 |
| Cleidocranial Dysplasia |
|
Genu valgum, Decreased skull ossification, Wormian bones, Sinusitis, Osteoporosis, Chronic otitis... |
ORPHA:1452 |
| Cutis Marmorata Telangiectatica Congenita |
|
Short lower limbs, Bowing of the legs |
OMIM:219250 |
| Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Hepatic failure, Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, T... |
OMIM:611126 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Osteopenia, Gastroesophageal reflux, Foot joint contracture, Dilated cardiomyopathy, Anal fissure... |
ORPHA:79408 |
| Neu-Laxova Syndrome |
|
Osteopenia, Rickets, Osteomalacia, Pterygium, Osteoporosis, Flexion contracture, Arthrogryposis m... |
ORPHA:2671 |
| Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Hepatic failure, Aspiration pneumonia, Ascites, Splenomegaly, Seborrheic dermatitis, Thrombocytop... |
OMIM:301072 |
| Macs Syndrome |
|
Osteoporosis, Recurrent aphthous stomatitis, Bronchiectasis, Joint hypermobility |
OMIM:613075 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 35 |
|
Osteoporosis, Central hypothyroidism, Contracture of the proximal interphalangeal joint of the 2n... |
OMIM:300998 |
| Pseudo-Torch Syndrome 2 |
|
Ascites, Pleural effusion, Bradycardia, Petechiae, Thrombocytopenia, Cerebral hemorrhage |
OMIM:617397 |
| Lissencephaly Due To Lis1 Mutation |
|
Neonatal hyperbilirubinemia |
ORPHA:95232 |
| Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Gastrointestinal angiodysplasia, Nasal mucosa telangiectasia, Clubbing, Polycythemia, Facial tela... |
OMIM:600376 |
| Hemangioma-Thrombocytopenia Syndrome |
|
Ventricular arrhythmia, Thrombocytopenia, Microangiopathic hemolytic anemia |
OMIM:141000 |
| Cleidocranial Dysplasia 1 |
|
Increased bone mineral density, Delayed pubic bone ossification, Increased susceptibility to frac... |
OMIM:119600 |
| Combined Oxidative Phosphorylation Deficiency 53 |
|
Septic arthritis, Osteomyelitis, Hypochromic microcytic anemia, Arthritis |
OMIM:619423 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia |
OMIM:612925 |
| Lymphangioleiomyomatosis |
|
Gastrointestinal hemorrhage, Chylothorax, Lymphedema, Ascites, Abdominal pain, Recurrent respirat... |
ORPHA:538 |
| Mucolipidosis Type Iii Alpha/Beta |
|
Recurrent otitis media, Joint stiffness, Generalized osteoporosis, Flexion contracture, Osteolysis |
ORPHA:423461 |
| Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Osteoporosis, Increased circulating cortisol level |
OMIM:615954 |
| Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Intrahepatic cholestasis, Diarrhea, Portal inflammation, Portal fibrosis, Ascites, Splenomegaly, ... |
OMIM:602347 |
| Meier-Gorlin Syndrome 7 |
|
Preaxial hand polydactyly, Breast aplasia, Cryptorchidism, Aplasia/Hypoplasia of the patella, 2-3... |
OMIM:617063 |
| Stormorken Syndrome |
|
Howell-Jolly bodies, Epistaxis, Abnormal bleeding, Bruising susceptibility, Subarachnoid hemorrha... |
OMIM:185070 |
| Primary Hyperoxaluria |
|
Generalized osteosclerosis, Recurrent fractures |
ORPHA:416 |
| Ulbright-Hodes Syndrome |
|
Abnormal forearm bone morphology, Fibular aplasia, Micrognathia, Cryptorchidism, Humeroradial syn... |
ORPHA:3404 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Dehydration, Oligohydramnios, Portal hypertension, Splenomegaly, Neonatal death, Hematemesis, Pan... |
OMIM:263200 |
| Complement Factor I Deficiency |
|
Decreased circulating complement factor B concentration, Recurrent otitis media, Pyelonephritis, ... |
OMIM:610984 |
| Prolactinoma |
|
Secondary growth hormone deficiency, Osteopenia, Adrenocorticotropin deficient adrenal insufficie... |
ORPHA:2965 |
| Hypothyroidism Due To Tsh Receptor Mutations |
|
Neonatal hyperbilirubinemia, Increased circulating thyroglobulin concentration |
ORPHA:90673 |
| Distal Deletion 19P |
|
Alopecia, Thick eyebrow, Joint hypermobility, Arachnodactyly, Long toe, Decreased circulating ant... |
ORPHA:96129 |
| Premature Aging Syndrome, Okamoto Type |
|
Osteoporosis |
OMIM:601811 |
| Congenital Alveolar Capillary Dysplasia |
|
Annular pancreas, Volvulus, Duodenal stenosis, Intestinal malrotation, Absent gallbladder, Agangl... |
ORPHA:210122 |
| Developmental And Epileptic Encephalopathy 89 |
|
Microretrognathia, Death in childhood, Neonatal death, Talipes equinovarus, Limb undergrowth, Fle... |
OMIM:619124 |
| Isolated Congenital Alacrima |
|
Keratitis, Lacrimal gland hypoplasia, Lacrimal punctal atresia, Distichiasis, Ptosis, Conjunctivi... |
ORPHA:91416 |
| Osteopathia Striata With Cranial Sclerosis |
|
Joint contracture of the hand, Craniofacial osteosclerosis, Tracheomalacia, Fibular aplasia, Scle... |
OMIM:300373 |
| Nephrotic Syndrome, Type 1 |
|
Gastroesophageal reflux, Pyloric stenosis |
OMIM:256300 |
| Acrorenal-Mandibular Syndrome |
|
Hypoplastic scapulae, Toe syndactyly, Absent nipple, Rudimentary fibula, Elbow flexion contractur... |
OMIM:200980 |
| Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Splenomegaly, Impaired T cell function |
OMIM:201100 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Dilated cardiomyopathy, Pulmonary embolism, Failure to thrive, Subdural hemorrhage, Feeding diffi... |
ORPHA:79282 |
| Wrinkly Skin Syndrome |
|
Sparse hair, Congenital hip dislocation, Osteopenia, Deep plantar creases, Failure to thrive, Dow... |
ORPHA:2834 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Cataract, Sparse eyebrow, Hamartoma of the orbital region, Recurrent upper respiratory tract infe... |
ORPHA:2399 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Hepatitis, Splenomegaly, Inc... |
OMIM:194380 |
| Epithelial Recurrent Erosion Dystrophy |
|
Corneal scarring, Irregular astigmatism, Subepithelial corneal opacities, Recurrent corneal erosi... |
ORPHA:293381 |
| Hajdu-Cheney Syndrome |
|
Foot acroosteolysis, Osteopenia, Pathologic fracture, Genu valgum, Fibular bowing, Cryptorchidism... |
OMIM:102500 |
| Prader-Willi Syndrome |
|
Osteopenia, Periodontitis, Xerostomia, Central hypothyroidism, Erysipelas, Decreased response to ... |
ORPHA:739 |
| Pouchitis |
|
Hematochezia, Diarrhea, Tenesmus, Clostridium difficile colitis, Bowel urgency, Abdominal pain, A... |
ORPHA:217067 |
| Sunct Syndrome |
|
Facial edema, Vomiting, Conjunctival hyperemia, Nausea, Ptosis, Palpebral edema |
ORPHA:57145 |
| Spondyloepiphyseal Dysplasia, Maroteaux Type |
|
Generalized osteoporosis, Genu valgum, Small joint hypermobilty |
OMIM:184095 |
| Hajdu-Cheney Syndrome |
|
Osteopenia, Periodontitis, Coarse metaphyseal trabecularization, Recurrent fractures, Splenomegal... |
ORPHA:955 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 2 |
|
Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Myeloid leukemia, Leukemia |
OMIM:614743 |
| Exercise-Induced Malignant Hyperthermia |
|
Hyperphosphatemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Thrombocytop... |
ORPHA:466650 |
| Neuroendocrine Tumor Of The Colon |
|
Melena, Lack of bowel sounds, Right ventricular failure, Hypotension, Hypoactive bowel sounds, Pr... |
ORPHA:100080 |
| Autosomal Dominant Spastic Paraplegia Type 36 |
|
Arthritis |
ORPHA:320365 |
| Staphylococcal Necrotizing Pneumonia |
|
Pneumonia, Leukopenia, Leukocytosis, Acute infectious pneumonia, Neutrophilia, Elevated circulati... |
ORPHA:36238 |
| Sclerosteosis 1 |
|
Cortically dense long tubular bones, Sclerotic scapulae, Facial palsy secondary to cranial hypero... |
OMIM:269500 |
| Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach |
|
Abdominal pain, Fundic gland polyposis, Gastric adenocarcinoma, Melena |
OMIM:619182 |
| Anemia, Congenital Dyserythropoietic, Type Iiia |
|
Macrocytic anemia, Congenital hypoplastic anemia, Anemia of inadequate production |
OMIM:105600 |
| Sim1-Related Prader-Willi-Like Syndrome |
|
Central hypothyroidism, Osteopenia, Xerostomia, Osteoporosis |
ORPHA:398079 |
| Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Abnormality of exocrine pancreas physiology, Hepatic steatosis, Aplasia/Hypoplasia of the pancrea... |
ORPHA:93111 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Polysyndactyly of hallux, Postaxial polysyndactyly of foot, Preaxial hand polydactyly, Short ribs... |
OMIM:263520 |
| Ruijs-Aalfs Syndrome |
|
Elbow flexion contracture, Osteoporosis |
OMIM:616200 |
| Abetalipoproteinemia |
|
Fat malabsorption, Acanthocytosis |
OMIM:200100 |
| Bone Marrow Failure Syndrome 1 |
|
Bone marrow hypocellularity, Pancytopenia, Aplastic anemia |
OMIM:614675 |
| Radio-Renal Syndrome |
|
Micromelia, Micrognathia, Hypoplasia of the radius, Brachydactyly, Short palm, Abnormality of the... |
ORPHA:3015 |
| Niemann-Pick Disease, Type C1 |
|
Fetal ascites, Sea-blue histiocytosis, Splenomegaly, Prolonged neonatal jaundice, Hepatomegaly, B... |
OMIM:257220 |
| Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Abnormal myelination |
ORPHA:352682 |
| Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Urinary bladder inflammation, Pterygium, Congenital pyloric atresia, Intestinal atresia, Recurren... |
ORPHA:79403 |
| Leptospirosis |
|
Uveitis, Diarrhea, Hypotension, Hepatitis, Subconjunctival hemorrhage, Pulmonary hemorrhage, Pleu... |
ORPHA:509 |
| Amoebiasis Due To Free-Living Amoebae |
|
Pneumonia, Increased red blood cell count, Corneal perforation, Vomiting, Granuloma, Unusual skin... |
ORPHA:68 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Elevated circulating phytanic acid concentration, Hepatosplenomegaly, Splenomegaly, Increased cir... |
OMIM:614866 |
| Hutchinson-Gilford Progeria Syndrome |
|
Generalized osteoporosis, Osteolysis |
OMIM:176670 |
| Eec Syndrome |
|
Decreased response to growth hormone stimulation test, Hypoplasia of the thymus, Anterior hypopit... |
ORPHA:1896 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Osteopenia, Central hypothyroidism, Xerostomia, Osteoporosis, Flexion contracture |
ORPHA:398069 |
| Hydrolethalus |
|
Micromelia, Micrognathia, Cryptorchidism, Postaxial hand polydactyly |
ORPHA:2189 |
| Alport Syndrome 1, X-Linked |
|
Hypoparathyroidism, Thrombocytopenia |
OMIM:301050 |
| Oculodentodigital Dysplasia |
|
Cranial hyperostosis, Camptodactyly of finger, Abnormal cortical bone morphology, Hyperostosis, M... |
ORPHA:2710 |
| Cushing Disease |
|
Increased circulating cortisol level, Lymphopenia, Leukocytosis, Recurrent cutaneous fungal infec... |
ORPHA:96253 |
| Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Highly arched eyebrow, Gastrostomy tube feeding in infancy, Broad eyebrow, Constipation, Thromboc... |
ORPHA:457351 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
High, narrow palate, Bifid uvula, Thin bony cortex, Osteoporosis, Recurrent fractures, Cleft pala... |
OMIM:309583 |
| Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Osteopenia, Central hypothyroidism, Decreased response to growth hormone stimulation test, Decrea... |
ORPHA:98754 |
| Aspartylglucosaminuria |
|
Joint stiffness, Abnormal cortical bone morphology, Splenomegaly, Arthritis, Hepatomegaly, Macrog... |
ORPHA:93 |
| Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Sparse eyebrow, Gastroesophageal reflux, Anteriorly placed anus, Long eyelashes, Micrognathia, Cr... |
ORPHA:495875 |
| Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Microcytic anemia, HbH hemoglobin |
ORPHA:98791 |
| Atypical Werner Syndrome |
|
Limitation of joint mobility, Sclerosis of hand bone, Osteolytic defects of the phalanges of the ... |
ORPHA:79474 |
| Holocarboxylase Synthetase Deficiency |
|
Alopecia, Vomiting, Skin rash, Feeding difficulties in infancy, Thrombocytopenia |
OMIM:253270 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrhosis, Polysplenia, Intes... |
OMIM:208540 |
| 3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form |
|
Gastroesophageal reflux, Micrognathia, Esophagitis, Palpebral edema, Feeding difficulties |
ORPHA:79350 |
| Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Osteopenia, Central hypothyroidism, Decreased response to growth hormone stimulation test, Decrea... |
ORPHA:98793 |
| Senior-Boichis Syndrome |
|
Anemia, Hepatosplenomegaly, Increased total bilirubin |
ORPHA:84081 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Osteopenia, Central hypothyroidism, Decreased response to growth hormone stimulation test, Decrea... |
ORPHA:177904 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Osteopenia, Central hypothyroidism, Decreased response to growth hormone stimulation test, Decrea... |
ORPHA:177901 |
| Congenital Disorder Of Glycosylation, Type Iiw |
|
Gastroesophageal reflux, Vomiting, Failure to thrive, Microcytic anemia, Recurrent otitis media, ... |
OMIM:619525 |
| Mirizzi Syndrome |
|
Hyperbilirubinemia |
ORPHA:521219 |
| Autosomal Recessive Robinow Syndrome |
|
Short distal phalanx of finger, Broad thumb, Toe syndactyly, Finger syndactyly, Synostosis of car... |
ORPHA:1507 |
| Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Camptodactyly, Osteopenia, Osteoporosis, Generalized joint hypermobility |
ORPHA:432 |
| Tangier Disease |
|
Coronary artery stenosis, Hepatosplenomegaly, Chronic noninfectious lymphadenopathy, Left ventric... |
ORPHA:31150 |
| Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Cardiomyopathy, Positional foot deformity, Thrombocytopenia, High palate, Dysphagia |
ORPHA:572798 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Absent gallbladder, Arachnodactyly, Epicanthus, Feeding difficulties in infancy, Curly hair, Dysp... |
ORPHA:500150 |
| Cardiofaciocutaneous Syndrome |
|
Palmoplantar keratoderma, Genu valgum, Cryptorchidism, Abnormal morphology of ulna, Cubitus valgu... |
ORPHA:1340 |
| Thrombocytopenia 10 |
|
Decreased mean platelet volume, Abnormal bleeding, Bruising susceptibility, Petechiae, Spontaneou... |
OMIM:620484 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Abnormal circulating thyroglobulin concentration, Neonatal hyperbilirubinemia, Hypercholesterolemia |
ORPHA:90674 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Extraadrenal pheochromocytoma, Adrenal pheochromocytoma, Paraganglioma of head and neck, Hypercal... |
ORPHA:276621 |
| Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Hypercalcemia, Elevated creatine kinase after exercise |
ORPHA:284426 |
| Cryptogenic Organizing Pneumonia |
|
Leukocytosis, Neutrophilia |
ORPHA:1302 |
| Proteus-Like Syndrome |
|
Genu recurvatum, Lower limb asymmetry, Thymus hyperplasia, Abnormality of the parathyroid gland, ... |
ORPHA:2969 |
| Apert Syndrome |
|
Toe syndactyly, Broad thumb, Finger syndactyly, Micromelia, Cervical C5/C6 vertebrae fusion, Apla... |
ORPHA:87 |
| Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Joint dislocation, Delayed cranial suture closure, Intestinal malrotation, Generalized joint hype... |
OMIM:601776 |
| Prader-Willi Syndrome |
|
Osteopenia, Decreased response to growth hormone stimulation test, Adrenal insufficiency, Genu va... |
OMIM:176270 |
| Kasabach-Merritt Phenomenon |
|
Abdominal distention, Microangiopathic hemolytic anemia, Hypertrichosis, Leukopenia, Reticulocyto... |
ORPHA:2330 |
| Li-Fraumeni Syndrome |
|
Stomach cancer, Neoplasm of the pancreas, Neoplasm of the rectum, Acute myeloid leukemia, Testicu... |
ORPHA:524 |
| Pericardial And Diaphragmatic Defect |
|
Intestinal malrotation, Meckel diverticulum, Abnormal gastrointestinal tract morphology |
ORPHA:2847 |
| Glycogen Storage Disease Ia |
|
Osteoporosis, Gout, Pancreatitis |
OMIM:232200 |
| Herpes Simplex Virus Encephalitis |
|
Elevated circulating C-reactive protein concentration, Hyponatremia, Leukocytosis, Neutrophilia |
ORPHA:1930 |
| Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Pheochromocytoma, Hypercalcemia, Hyperhidrosis |
OMIM:171420 |
| Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Anasarca, Pleural effusion, Normochromic anemia, Thrombocytopenia, Dysphagia, Edema |
OMIM:254900 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Aortic valve stenosis, Recurrent otitis media, Long hallux, Genu valgum, Cryptorchidism, Arachnod... |
ORPHA:261537 |
| Gastroesophageal Reflux |
|
Barrett esophagus, Esophagitis, Gastroesophageal reflux, Esophageal neoplasm |
OMIM:109350 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Hypotension, Vomiting, Failure to thrive, Bradycardia, Feeding difficulties in infancy, Pulmonary... |
OMIM:277400 |
| Robinow Syndrome, Autosomal Dominant 1 |
|
Bifid distal phalanx of toe, Small hand, Broad thumb, Rhizomelia, Clinodactyly, Radial deviation ... |
OMIM:180700 |
| Brittle Cornea Syndrome |
|
Camptodactyly, Osteoporosis, Increased susceptibility to fractures, Joint hypermobility |
ORPHA:90354 |
| Serkal Syndrome |
|
Malrotation of small bowel |
ORPHA:139466 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Extraadrenal pheochromocytoma, Adrenal pheochromocytoma, Paraganglioma of head and neck, Elevated... |
ORPHA:29072 |
| Aprosencephaly Syndrome |
|
Aprosencephaly, Anencephaly |
OMIM:207770 |
| Neu-Laxova Syndrome 1 |
|
Joint contracture of the hand, Toe syndactyly, Finger syndactyly, Clinodactyly, Micromelia, Radia... |
OMIM:256520 |
| Autosomal Recessive Cutis Laxa Type 1 |
|
Recurrent pneumonia, Joint subluxation, Small bowel diverticula, Pathologic fracture, Pyelonephri... |
ORPHA:90349 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Broad thumb, Clinodactyly, Micrognathia, Cryptorchidism, Brachydactyly, Camptodactyly, Short phal... |
OMIM:616894 |
| Kallmann Syndrome-Heart Disease Syndrome |
|
Osteoporosis, Osteopenia |
ORPHA:2326 |
| Distal Renal Tubular Acidosis |
|
Reduced bone mineral density, Rickets, Increased susceptibility to fractures, Osteomalacia |
ORPHA:18 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
| Degcags Syndrome |
|
Hepatosplenomegaly, Hyperbilirubinemia, Pancytopenia, Leukopenia, Abnormal spleen morphology, Iro... |
OMIM:619488 |
| Aplastic Anemia |
|
Bone marrow hypocellularity, Aplastic anemia |
OMIM:609135 |
| X Small Rings |
|
Osteoporosis, Reduced bone mineral density, Joint hypermobility |
ORPHA:96201 |
| Fanconi Anemia, Complementation Group L |
|
Bone marrow hypocellularity, Absent thumb, Hypoplastic sacrum, Micrognathia, Anemia, Absent radiu... |
OMIM:614083 |
| Cranioectodermal Dysplasia 2 |
|
Rhizomelia, Clinodactyly, Polysplenia, Micrognathia, Hyperbilirubinemia, Splenomegaly, Polydactyl... |
OMIM:613610 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Aortic valve stenosis, Hyphema, Ectopia pupillae, Recurrent otitis media, Long hallux, Genu valgu... |
ORPHA:261552 |
| Fanconi Anemia, Complementation Group Q |
|
Bone marrow hypocellularity, Absent thumb |
OMIM:615272 |
| Isolated Biliary Atresia |
|
Conjugated hyperbilirubinemia, Splenomegaly |
ORPHA:30391 |
| Scleromyxedema |
|
Paraproteinemia |
ORPHA:167635 |
| Roberts-Sc Phocomelia Syndrome |
|
Clinodactyly, Micrognathia, Cryptorchidism, Abnormal metacarpal morphology, Absent radius, Syndac... |
OMIM:268300 |
| Smith-Lemli-Opitz Syndrome |
|
Postaxial foot polydactyly, Talipes calcaneovalgus, Overlapping toe, Micrognathia, Cryptorchidism... |
OMIM:270400 |
| Aapoaiv Amyloidosis |
|
Paraproteinemia, Cardiac amyloidosis, Hypertrophic cardiomyopathy |
ORPHA:439232 |
| Frank-Ter Haar Syndrome |
|
Osteopenia, Delayed cranial suture closure, Cortical irregularity, Wormian bones, Camptodactyly, ... |
OMIM:249420 |
| Malakoplakia |
|
Diarrhea, Inflammatory abnormality of the skin, Abnormal bleeding, Urinary bladder inflammation, ... |
ORPHA:556 |
| Schisis Association |
|
Micromelia |
ORPHA:63862 |
| Turcot Syndrome With Polyposis |
|
Hematochezia, Melena, Diarrhea, Vomiting, Pituitary adenoma, Adenomatous colonic polyposis, Intes... |
ORPHA:99818 |
| Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Microcolon, Ileus, Splenomegaly, Aganglionic megacolon, Constipation, Hepatomegaly, Arthrogryposi... |
ORPHA:163746 |
| Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
High, narrow palate, Hematochezia, Failure to thrive, Recurrent otitis media, Chronic constipatio... |
OMIM:619575 |
| Dermatomyositis |
|
Abnormal eosinophil morphology, Chondrocalcinosis, Anti-Mi2 antibody positivity, Heliotrope rash,... |
ORPHA:221 |
| Aicardi-Goutières Syndrome |
|
Neonatal alloimmune thrombocytopenia, Increased circulating interferon-gamma concentration, Hepat... |
ORPHA:51 |
| Chromosome 14Q11-Q22 Deletion Syndrome |
|
Elevated circulating thyroid-stimulating hormone concentration, Bilateral cryptorchidism, Microgn... |
OMIM:613457 |
| Combined Oxidative Phosphorylation Deficiency 14 |
|
Anemia, Feeding difficulties, Thrombocytopenia |
OMIM:614946 |
| Congenital Bile Acid Synthesis Defect Type 4 |
|
Giant cell hepatitis, Cholelithiasis, Hematochezia, Cataract, Hypogonadism |
ORPHA:79095 |
| Herpes Simplex Virus Stromal Keratitis |
|
Corneal perforation, Keratitis, Conjunctival hyperemia, Corneal stromal edema, Herpetiform cornea... |
ORPHA:137599 |
| Fructose Intolerance, Hereditary |
|
Hypophosphatemia, Hyperbilirubinemia, Hyperuricemia, Bicarbonaturia |
OMIM:229600 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Elevated circulating luteinizing hormone level, Primary adrenal insufficiency, Adrenocorticotropi... |
ORPHA:168558 |
| Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Osteoporosis, Osteopenia, Bicoronal synostosis, Joint hypermobility |
OMIM:619718 |
| Matthew-Wood Syndrome |
|
Abnormal spleen morphology, Annular pancreas, Aplasia/Hypoplasia of the pancreas, Duodenal stenosis |
ORPHA:2470 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Elevated circulating luteinizing hormone level, Primary adrenal insufficiency, Adrenocorticotropi... |
ORPHA:289548 |
| Pituitary Adenoma 4, Acth-Secreting |
|
Osteoporosis |
OMIM:219090 |
| Tsh-Secreting Pituitary Adenoma |
|
Secondary growth hormone deficiency, Osteopenia, Adrenocorticotropin deficient adrenal insufficie... |
ORPHA:91347 |
| Lambert-Eaton Myasthenic Syndrome |
|
Xerostomia, Orthostatic hypotension due to autonomic dysfunction, Keratoconjunctivitis sicca, Con... |
ORPHA:43393 |
| Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
Abnormal myelination |
ORPHA:289266 |
| Autosomal Dominant Cutis Laxa |
|
Genu recurvatum, Osteopenia, Hip dislocation, Vomiting, Small bowel diverticula, Delayed cranial ... |
ORPHA:90348 |
| Limbal Stem Cell Deficiency |
|
Blepharospasm, Corneal perforation, Opacification of the corneal epithelium, Keratitis, Corneal s... |
ORPHA:171673 |
| Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Absent gallbladder, Foot polydactyly, Missing ribs, Aplasia/Hypoplasia of the thumb, Hypoplasia o... |
ORPHA:3186 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Toe syndactyly, Xerostomia, Cryptorchidism, Sparse eyelashes, Absence of Stensen duct, Blepharoph... |
OMIM:129900 |
| Cysticercosis |
|
Stiff neck, Infectious encephalitis, Increased circulating antibody level, Iridocyclitis, Increas... |
ORPHA:1560 |
| X-Linked Intellectual Disability, Nascimento Type |
|
Neonatal hyperbilirubinemia, Neutropenia |
ORPHA:163956 |
| Legionnaires Disease |
|
Bone marrow hypocellularity, Lymphopenia, Splenomegaly, Hyponatremia, Pancreatitis, Lymphadenopathy |
ORPHA:549 |
| Weill-Marchesani Syndrome 1 |
|
Joint stiffness, Narrow palate, Thin bony cortex |
OMIM:277600 |
| Cantú Syndrome |
|
Osteoporosis |
ORPHA:1517 |
| Cerebrocostomandibular Syndrome |
|
Congenital hip dislocation, Elbow flexion contracture, 11 pairs of ribs, Micrognathia, 10 pairs o... |
OMIM:117650 |
| Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Stomach cancer, Juvenile gastrointestinal polyposis, Multiple gastric polyps, Neoplasm of the rec... |
ORPHA:480536 |
| Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
| Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Vomiting, Flexion contracture, Congenital pyloric atresia |
ORPHA:158684 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Toe syndactyly, Xerostomia, Cryptorchidism, Sparse eyelashes, Absence of Stensen duct, Blepharoph... |
OMIM:604292 |
| Cockayne Syndrome B |
|
Limitation of joint mobility, Splenomegaly, Anhidrosis, Osteoporosis, Ivory epiphyses of the phal... |
OMIM:133540 |
| Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Hyperbilirubinemia, Increased circulating thyroglobulin concentration |
OMIM:218700 |
| Autosomal Dominant Progressive External Ophthalmoplegia |
|
Osteoporosis, Hypothyroidism, Hyperthyroidism |
ORPHA:254892 |
| Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:617101 |
| Pelizaeus-Merzbacher Disease, Connatal Form |
|
Cerebral hypomyelination, Abnormal myelination, Gliosis |
ORPHA:280210 |
| Thauvin-Robinet-Faivre Syndrome |
|
Long foot, Long hallux, Transient neutropenia, Pes planus, Large hands, Pedal edema, Bowing of th... |
OMIM:617107 |
| Robinow Syndrome |
|
Short distal phalanx of finger, Radioulnar dislocation, Decreased serum testosterone concentratio... |
ORPHA:97360 |
| Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Osteopenia, Congenital hip dislocation, Knee dislocation, Joint hypermobility, Shoulder dislocati... |
ORPHA:536545 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Hyperbilirubinemia |
OMIM:619475 |
| Familial Osteodysplasia, Anderson Type |
|
Recurrent fractures, Increased susceptibility to fractures, Abnormal cortical bone morphology, El... |
ORPHA:2769 |
| Dpagt1-Cdg |
|
Camptodactyly, Osteoporosis, Flexion contracture, Anemia |
ORPHA:86309 |
| Alg9-Cdg |
|
Bifid uvula, Periportal fibrosis, Gastroesophageal reflux, Diarrhea, Vomiting, Delayed cranial su... |
ORPHA:79328 |
| Psoriasis 1, Susceptibility To |
|
Psoriasiform dermatitis, Arthritis |
OMIM:177900 |
| Uremic Pruritus |
|
Renal hypophosphatemia, Hypermagnesemia, Hypercalcemia, Increased blood urea nitrogen |
ORPHA:94059 |
| Multiple Mitochondrial Dysfunctions Syndrome 7 |
|
Decreased liver function, Ankle clonus, Thrombocytopenia, Feeding difficulties, Poor suck |
OMIM:620423 |
| Small Cell Carcinoma Of The Bladder |
|
Hypercalcemia |
ORPHA:284400 |
| Tarp Syndrome |
|
Extramedullary hematopoiesis, Abnormal duodenum morphology, Widely patent fontanelles and sutures... |
ORPHA:2886 |
| Maternal Uniparental Disomy Of Chromosome 4 |
|
Abnormal erythrocyte morphology, Diarrhea, Fat malabsorption, Acanthocytosis |
ORPHA:96180 |
| Infantile Nephropathic Cystinosis |
|
Rickets |
ORPHA:411629 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Polycythemia, Hypertrophic cardiomyopathy, Astrocytosis, Splenomegaly, Abnormal myelination |
ORPHA:309854 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Congenital shortened small intestine, Meckel diverticulum, Annular pancreas, Intestinal malrotati... |
OMIM:265380 |
| Autosomal Dominant Robinow Syndrome |
|
Finger syndactyly, Micromelia, Camptodactyly of finger, Elbow dislocation, Avascular necrosis of ... |
ORPHA:3107 |
| Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Increased circulating gonadotropin level, Osteopenia, Contracture of the proximal interphalangeal... |
ORPHA:2232 |
| Cerebrotendinous Xanthomatosis |
|
Osteopenia, Increased susceptibility to fractures, Hypothyroidism, Osteoporosis, Abnormality of t... |
ORPHA:909 |
| Tarp Syndrome |
|
Meckel diverticulum, High palate, Glossoptosis, Tongue nodules, Cleft palate |
OMIM:311900 |
| Roifman-Chitayat Syndrome |
|
Pneumonia, Osteopenia, Arthritis |
OMIM:613328 |
| Glucose-Galactose Malabsorption |
|
Hypercalcemia, Hypernatremia |
ORPHA:35710 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Microangiopathic hemolytic anemia, Transient ischemic attack, Reticulocytosis, Schistocytosis, Th... |
OMIM:274150 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Increased circulating antibody level |
OMIM:606002 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Pneumonia, Pyoderma, Gastrointestinal inflammation, Anemia, Osteoporosis, Recurrent skin infections |
ORPHA:79404 |
| Cerebrotendinous Xanthomatosis |
|
Osteoporosis, Ankle clonus |
OMIM:213700 |
| Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Hypoparathyroidism |
OMIM:146255 |
| Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Abnormal pelvis bone ossification, Micromelia, Preaxial hand polydactyly, Absent or minimally oss... |
ORPHA:93271 |
| Postaxial Acrofacial Dysostosis |
|
Congenital hip dislocation, Radioulnar synostosis, Midgut malrotation, Cleft palate, Pyloric sten... |
OMIM:263750 |
| Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Hematochezia, Gastrointestinal carcinoma, Epistaxis, Mitral regurgitation, Juvenile gastrointesti... |
OMIM:175050 |
| Smith-Lemli-Opitz Syndrome |
|
Rhizomelia, Aplasia/Hypoplasia of the radius, Postaxial foot polydactyly, Finger syndactyly, Ulna... |
ORPHA:818 |
| Fryns Syndrome |
|
Joint contracture of the hand, Meckel diverticulum, Polysplenia, Intestinal malrotation, Aganglio... |
OMIM:229850 |
| Ovarian Dysgenesis 3 |
|
Elevated circulating luteinizing hormone level, Female infertility, Aplasia of the ovary, Elevate... |
OMIM:614324 |
| Phacoanaphylactic Uveitis |
|
Posterior uveitis, Red eye, Panuveitis, Macular edema, Keratitis, Posterior synechiae of the ante... |
ORPHA:209959 |
| Enthesitis-Related Juvenile Idiopathic Arthritis |
|
Hip osteoarthritis, Abnormality of the ankle, Anterior uveitis, Sacroiliac arthritis, Abnormal hi... |
ORPHA:85438 |
| Vertical Talus, Congenital |
|
Arthritis |
OMIM:192950 |
| Trisomy 8P |
|
Bifid uvula, Malrotation of small bowel, Annular pancreas, Multiple joint contractures, Metopic s... |
ORPHA:264450 |
| Weill-Marchesani Syndrome 2 |
|
Elbow flexion contracture, Joint stiffness, Thin bony cortex, High palate, Narrow palate, Flexion... |
OMIM:608328 |
| Congenital Disorder Of Deglycosylation 1 |
|
Osteoporosis, Hyperhidrosis, Anhidrosis |
OMIM:615273 |
| Hyperlipoproteinemia, Type I |
|
Vomiting, Hepatosplenomegaly, Splenomegaly, Jaundice, Nausea, Acute pancreatitis |
OMIM:238600 |
| Marfan Syndrome |
|
Osteopenia, Limited elbow movement, Joint hypermobility, Arthralgia/arthritis, Osteoporosis, Redu... |
ORPHA:558 |
| Tremor-Nystagmus-Duodenal Ulcer Syndrome |
|
Duodenal ulcer |
ORPHA:3350 |
| Classic Progressive Supranuclear Palsy Syndrome |
|
Blepharospasm, Neuromuscular dysphagia, Conjunctival hyperemia |
ORPHA:240071 |
| Duodenal Ulcer Due To Antral G-Cell Hyperfunction |
|
Duodenal ulcer |
OMIM:126840 |
| X-Linked Intellectual Disability, Snyder Type |
|
Camptodactyly, Osteoporosis, Recurrent fractures |
ORPHA:3063 |
| Sotos Syndrome |
|
Ankle flexion contracture, Acute lymphoblastic leukemia, Cryptorchidism, Hip contracture, Joint h... |
ORPHA:821 |
| Primary Fanconi Renotubular Syndrome |
|
Hypophosphatemic rickets, Increased susceptibility to fractures, Osteomalacia |
ORPHA:3337 |
| Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis |
|
Abnormal myelination |
OMIM:617333 |
| Tremor, Nystagmus, And Duodenal Ulcer |
|
Duodenal ulcer |
OMIM:190310 |
| Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Absent nipple, Branchial cyst, Intrauterine growth retardation, Congenital hypothyroidism, Patent... |
OMIM:620186 |
| C Syndrome |
|
Toe syndactyly, Limitation of joint mobility, Micromelia, Micrognathia, Cryptorchidism, Bilateral... |
ORPHA:1308 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:619769 |
| Aneurysm-Osteoarthritis Syndrome |
|
Camptodactyly of finger, Osteochondritis dissecans, Intervertebral disk degeneration, Joint hyper... |
ORPHA:284984 |
| Stickler Syndrome, Type I |
|
Joint stiffness, Joint hypermobility, Arthropathy, Osteoarthritis, Arthritis |
OMIM:108300 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Aplastic clavicle, Micromelia, Preaxial polydactyly, Short ribs, Postaxial polydactyly |
OMIM:616546 |
| Non-Specific Early-Onset Epileptic Encephalopathy |
|
Abnormal myelination |
ORPHA:442835 |
| Rothmund-Thomson Syndrome, Type 2 |
|
Osteoporosis, Congenital hip dislocation |
OMIM:268400 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Osteopenia, Increased circulating prolactin concentration, Aspiration pneumonia, Joint hypermobil... |
ORPHA:438213 |
| Duodenal Ulcer, Hyperpepsinogenemic I |
|
Duodenal ulcer |
OMIM:126850 |
| Neonatal Inflammatory Skin And Bowel Disease |
|
Blepharitis, Horizontal eyebrow, Chapped lip, Anal fissure, Bloody diarrhea, Psoriasiform dermati... |
ORPHA:294023 |
| Glycerol Kinase Deficiency |
|
Pathologic fracture, Osteoporosis, Adrenal insufficiency, Chronic pancreatitis |
OMIM:307030 |
| Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
|
Thymus hyperplasia |
OMIM:619036 |
| Cerebellar, Ocular, Craniofacial, And Genital Syndrome |
|
Long eyelashes, Low anterior hairline, Hirsutism, Keratoconjunctivitis sicca, Laterally extended ... |
OMIM:618479 |
| Thrombocytopenia 3 |
|
Decreased mean platelet volume, Epistaxis, Petechiae, Thrombocytopenia |
OMIM:273900 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Increased circulating cortisol level, Lymphopenia, Leukocytosis, Recurrent cutaneous fungal infec... |
ORPHA:99889 |
| Pheochromocytoma |
|
Pheochromocytoma, Hypercalcemia, Hyperhidrosis |
OMIM:171300 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Small hand, Tracheomalacia, Hypoplasia of proximal radius, Decreased response to growth hormone s... |
ORPHA:444077 |
| Wolf-Hirschhorn Syndrome |
|
Accessory spleen, Malrotation of small bowel, Gastroesophageal reflux, Biliary tract abnormality,... |
OMIM:194190 |
| 17Q11 Microdeletion Syndrome |
|
Precocious puberty, Osteopenia, Elevated circulating parathyroid hormone level, Long foot, Pheoch... |
ORPHA:97685 |
| Rheumatic Fever |
|
Arthritis, Sinusitis, Myocarditis, Endocarditis, Pericarditis |
ORPHA:3099 |
| Neurofibroma |
|
Recurrent otitis media, Intestinal bleeding, Enlargement of parotid gland, Multiple intestinal ne... |
ORPHA:252183 |
| Progressive Multifocal Leukoencephalopathy |
|
Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells, Abnorm... |
ORPHA:217260 |
| Wolf-Hirschhorn Syndrome |
|
Osteoporosis, Chronic otitis media |
ORPHA:280 |
| Spinal Cord Injury |
|
Hypercalcemia |
ORPHA:90058 |
| Neurooculorenal Syndrome |
|
Conjugated hyperbilirubinemia |
OMIM:620305 |
| Loeys-Dietz Syndrome 3 |
|
Osteopenia, Hip osteoarthritis, Osteochondritis dissecans, Intervertebral disk degeneration, Join... |
OMIM:613795 |
| Lowe Oculocerebrorenal Syndrome |
|
Joint contracture of the hand, Rickets, Camptodactyly of finger, Pathologic fracture, Osteomalaci... |
OMIM:309000 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Epiphyseal dysplasia, Deep palmar crease, Micromelia |
ORPHA:1675 |
| Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Osteoporosis, Tracheomalacia |
OMIM:203700 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Hypoalbuminemia, Increased circulating ferritin concentration, Elevated circulating creatinine co... |
OMIM:619534 |
| Knobloch Syndrome |
|
Joint hypermobility, Lymphangioma, Pyloric stenosis |
ORPHA:1571 |
| Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity |
|
Splenic cyst, Patent foramen ovale, Cryptorchidism, Cardiomegaly, Gliosis, Abnormal CNS myelinati... |
OMIM:620371 |
| Carney Complex |
|
Euthyroid multinodular goiter, Increased circulating prolactin concentration, Ovarian cyst, Incre... |
ORPHA:1359 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Osteoporosis, Flexion contracture |
ORPHA:365 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:847 |
| X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency |
|
Ectopic posterior pituitary, Anterior pituitary hypoplasia, Abnormal myelination, Decreased respo... |
ORPHA:67045 |
| 46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Osteoporosis, Elevated circulating luteinizing hormone level, Reduced bone mineral density, Eleva... |
ORPHA:90796 |
| Mismatch Repair Cancer Syndrome 3 |
|
Lisch nodules, Neoplasm of the rectum, Colon cancer |
OMIM:619097 |
| Aortic Aneurysm, Familial Thoracic 12 |
|
Arthritis |
OMIM:619825 |
| Fraser Syndrome 1 |
|
Abnormal thymus morphology, Abnormal small intestine morphology, Abnormality of the anus, Cleft p... |
OMIM:219000 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:301040 |
| Down Syndrome |
|
Shallow acetabular fossae, Duodenal stenosis, Protruding tongue, Acute megakaryocytic leukemia, J... |
OMIM:190685 |
| Hypoplasminogenemia |
|
Abnormality of the ovary, Duodenal ulcer, Periodontitis, Cervicitis |
ORPHA:722 |
| Sacral Defect With Anterior Meningocele |
|
Absence of the sacrum, Hydromyelia, Constipation, Rectal abscess, Bilateral talipes equinovarus, ... |
OMIM:600145 |
| Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Arthritis |
ORPHA:397744 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Two carpal ossification centers present at birth, Narrow palate, Exaggerated median tongue furrow... |
OMIM:312870 |
| Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant |
|
Cervical subluxation, Arthritis |
OMIM:184100 |
| 46,Xy Partial Gonadal Dysgenesis |
|
Elevated circulating luteinizing hormone level, Adrenal insufficiency, Elevated circulating folli... |
ORPHA:251510 |
| Dowling-Degos Disease |
|
Acne inversa, Arthritis |
ORPHA:79145 |
| Dyskeratosis Congenita, Autosomal Recessive 3 |
|
Bone marrow hypocellularity, Pancytopenia |
OMIM:613988 |
| Knobloch Syndrome 2 |
|
Chronic constipation, Pyloric stenosis |
OMIM:618458 |
| Polymerase Proofreading-Related Adenomatous Polyposis |
|
Adenocarcinoma of the colon, Neoplasm of the rectum, Colorectal polyposis, Adenomatous colonic po... |
ORPHA:447877 |
| Barrett Esophagus |
|
Barrett esophagus, Gastroesophageal reflux, Esophageal carcinoma, Esophageal ulceration |
OMIM:614266 |
| Juvenile Xanthogranuloma |
|
Asymmetry of iris pigmentation, Hyphema, Iritis, Myeloproliferative disorder, Blepharitis, Uveitis |
ORPHA:158000 |
| Loeys-Dietz Syndrome 2 |
|
Joint contracture of the hand, Joint hypermobility, Eosinophilic infiltration of the esophagus, C... |
OMIM:610168 |
| Microcephalic osteodysplastic primordial dwarfism, type III |
|
Delayed cranial suture closure, Dislocation of the femoral head, Knee flexion contracture, Hip co... |
OMIM:210730 |
| Peters Plus Syndrome |
|
Rhizomelia, Toe syndactyly, Short toe, Micromelia, Congenital hypothyroidism, Micrognathia, Crypt... |
ORPHA:709 |
| Giant Cell Arteritis |
|
Joint stiffness, Hyperhidrosis, Arthritis, Pericarditis |
ORPHA:397 |
| Idiopathic Panuveitis |
|
Red eye, Cataract, Posterior synechiae of the anterior chamber, Cystoid macular edema, Conjunctiv... |
ORPHA:280921 |
| Faciocardiomelic Syndrome |
|
Osteopenia, Thin bony cortex |
OMIM:612731 |
| Mosaic Trisomy 16 |
|
Abnormality of the gastrointestinal tract, Meckel diverticulum, Anteriorly placed anus |
ORPHA:1708 |
| Nthl1-Related Attenuated Familial Adenomatous Polyposis |
|
Pancreatic adenocarcinoma, Duodenal adenocarcinoma, Ovarian cyst, Neoplasm of the rectum, Adenoma... |
ORPHA:454840 |
| X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
|
Lower-limb joint contracture, Osteoporosis |
ORPHA:459070 |
| Fraser Syndrome |
|
Toe syndactyly, Finger syndactyly, Wide pubic symphysis, Cryptorchidism, Death in infancy, Limb u... |
ORPHA:2052 |
| Genitopatellar Syndrome |
|
Congenital hip dislocation, Malrotation of small bowel, Anal stenosis, Anteriorly placed anus, Pa... |
OMIM:606170 |
| Severe Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Gout, Arthritis |
ORPHA:411543 |
| Cystinosis, Nephropathic |
|
Hypophosphatemic rickets, Rickets |
OMIM:219800 |
| Alkaptonuria |
|
Limited hip movement, Intervertebral disk degeneration, Arthropathy, Limited shoulder movement, A... |
OMIM:203500 |
| Primrose Syndrome |
|
Genu valgum, Knee flexion contracture, Hip contracture, Joint hypermobility, Hypothyroidism, Oste... |
OMIM:259050 |
| Congenital Disorder Of Glycosylation, Type Iim |
|
Neonatal hyperbilirubinemia |
OMIM:300896 |
| Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Gliosis, Abnormal myelination, Delayed myelination, Splenomegaly |
ORPHA:404454 |
| Penile Agenesis |
|
Oligohydramnios, Cryptorchidism, Anal atresia, Tracheoesophageal fistula, Rectal fistula, Bilater... |
ORPHA:49 |
| Pmm2-Cdg |
|
Osteopenia, Increased circulating prolactin concentration, Aspiration pneumonia, Multiple joint c... |
ORPHA:79318 |
| Craniotubular Dysplasia, Ikegawa Type |
|
Sclerosis of skull base, Thin bony cortex |
OMIM:619727 |
| Fabry Disease |
|
Anemia, Hypohidrosis, Reduced bone mineral density, Arthritis |
ORPHA:324 |
| Singleton-Merten Syndrome 1 |
|
Osteopenia, Joint subluxation, Shallow acetabular fossae, Genu valgum, Osteolytic defects of the ... |
OMIM:182250 |
| Beckwith-Wiedemann Syndrome |
|
Polycythemia, Abnormal pancreas morphology, Exocrine pancreatic insufficiency, Adrenocortical cyt... |
ORPHA:116 |
| Mild Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Arthritis |
ORPHA:411536 |
| Behcet Syndrome |
|
Iridocyclitis, Erythema nodosum, Arthritis, Epididymitis, Iritis |
OMIM:109650 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Abnormal peripheral myelination, Abnormal myelination, Mixed demyelinating and axonal polyneuropathy |
ORPHA:466768 |
| Tetrasomy 9P |
|
Joint dislocation, Systemic lupus erythematosus, Glue ear, Myositis, Arthritis, Pericarditis |
ORPHA:3310 |
| Generalized Arterial Calcification Of Infancy |
|
Abnormal calcification of the carpal bones, Hypophosphatemic rickets, Fused cervical vertebrae, O... |
ORPHA:51608 |
| Mucopolysaccharidosis Type 2, Severe Form |
|
Limitation of joint mobility, Camptodactyly of finger, Hepatosplenomegaly, Splenomegaly, Arthriti... |
ORPHA:217085 |
| Mucopolysaccharidosis Type 2, Attenuated Form |
|
Limitation of joint mobility, Camptodactyly of finger, Hepatosplenomegaly, Splenomegaly, Arthriti... |
ORPHA:217093 |
| Proteus Syndrome |
|
Thymus hyperplasia, Diabetes insipidus, Neoplasm of the thymus, Sirenomelia, Splenomegaly, Enlarg... |
ORPHA:744 |
| Orofaciodigital Syndrome Type 14 |
|
Abnormal myelination, Ventricular septal defect, Patent ductus arteriosus, Bilateral cryptorchidism |
ORPHA:434179 |
| Choreoacanthocytosis |
|
Abnormal erythrocyte enzyme concentration or activity, Acanthocytosis, Splenomegaly, Arthritis |
ORPHA:2388 |
