| Pyknoachondrogenesis |
|
Increased bone mineral density, Stillbirth |
OMIM:265880 |
| Osteopetrosis, Autosomal Recessive 6 |
|
Dense metaphyseal bands, Osteopetrosis, Erlenmeyer flask deformity of the femurs, Cortical sclero... |
OMIM:611497 |
| Wiskott-Aldrich Syndrome 2 |
|
Decreased proportion of CD8-positive T cells, Defective T cell proliferation, Thrombocytopenia, R... |
OMIM:614493 |
| 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 |
| Immunodeficiency 18 |
|
Decreased proportion of CD3-positive T cells, Defective T cell proliferation, Lymphopenia |
OMIM:615615 |
| Osteopetrosis, Autosomal Dominant 1 |
|
Generalized osteosclerosis, Abnormal pelvic girdle bone morphology, Osteopetrosis, Calvarial oste... |
OMIM:607634 |
| Osteopetrosis, Autosomal Dominant 2 |
|
Recurrent fractures, Mandibular osteomyelitis, Generalized osteosclerosis, Fractures of the long ... |
OMIM:166600 |
| Combined Immunodeficiency, X-Linked |
|
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... |
OMIM:312863 |
| Melorheostosis, Isolated |
|
Hyperostosis, Increased bone mineral density |
OMIM:155950 |
| Osteopoikilosis And Dacryocystitis |
|
Osteopoikilosis |
OMIM:166705 |
| Immunodeficiency 24 |
|
Lymphopenia, Decreased CD4:CD8 ratio, Decreased circulating IgG2 level, Reduced proportion of muc... |
OMIM:615897 |
| Ribbing Disease |
|
Diaphyseal sclerosis |
OMIM:601477 |
| Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy |
OMIM:183350 |
| Osteosclerotic Metaphyseal Dysplasia |
|
Dense metaphyseal bands, Metaphyseal dysplasia, Increased bone mineral density, Clavicular sclerosis |
OMIM:615198 |
| Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Increased bone mineral density |
ORPHA:75325 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Generalized lymphadenopathy, In... |
OMIM:615559 |
| Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Ectopic ossification, Increased bone mineral density |
OMIM:602475 |
| Buschke-Ollendorff Syndrome |
|
Osteopoikilosis, Flexion contracture, Joint stiffness |
OMIM:166700 |
| Eiken Syndrome |
|
Abnormal trabecular bone morphology, Epiphyseal dysplasia, Abnormal acetabulum morphology, Abnorm... |
ORPHA:79106 |
| Melorheostosis With Osteopoikilosis |
|
Complete duplication of the distal phalanges of the hand, Osteopoikilosis, Abnormal cortical bone... |
ORPHA:1879 |
| Dentin Dysplasia |
|
Increased bone mineral density |
ORPHA:1653 |
| Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Lymphoproliferative disorder, Splenomegaly, Lymphoma... |
OMIM:615122 |
| Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Reduced natural killer cell activity, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia |
OMIM:608898 |
| Dacryocystitis-Osteopoikilosis Syndrome |
|
Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
| Alpha-Heavy Chain Disease |
|
Hepatomegaly, Dysgammaglobulinemia, Splenomegaly, Lymphoma, Lymphadenopathy, Ascites, Anemia |
ORPHA:100025 |
| Immunodeficiency 15A |
|
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... |
OMIM:618204 |
| Osteochondrosis Of The Metatarsal Bone |
|
Flattened metatarsal heads, Abnormality of the fifth metatarsal bone, Sclerosis of foot bone, Abn... |
ORPHA:564003 |
| Osteomesopyknosis |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2777 |
| Hyperostosis Corticalis Generalisata |
|
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis, Diaphyseal t... |
ORPHA:3416 |
| Immunodeficiency 81 |
|
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... |
OMIM:619374 |
| Craniometaphyseal Dysplasia |
|
Craniofacial hyperostosis, Abnormal metaphysis morphology, Osteopetrosis |
ORPHA:1522 |
| Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased proportion of CD4-positive T cells, Recurrent respiratory infections, Lymphoproliferati... |
OMIM:300853 |
| Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
T lymphocytopenia, Decreased circulating IgG level |
OMIM:242870 |
| Immunodeficiency, Common Variable, 2 |
|
Hepatomegaly, Impaired T cell function, Autoimmunity, Follicular hyperplasia, Splenomegaly, Lymph... |
OMIM:240500 |
| Sclerosteosis |
|
Craniofacial hyperostosis, Increased bone mineral density, Finger syndactyly, 2-3 finger syndacty... |
ORPHA:3152 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Pancytopenia, Extramedullary hematopoiesis, Osteomyelitis, Recurrent fractures, Mandibular osteom... |
OMIM:259710 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Reticulocytosis, Increased bone mineral density, Recurrent fractures, Splenomegaly, Thrombocytope... |
OMIM:611490 |
| Van Buchem Disease |
|
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones |
OMIM:239100 |
| Severe Combined Immunodeficiency, X-Linked |
|
Impaired lymphocyte transformation with phytohemagglutinin, Reduced natural killer cell activity,... |
OMIM:300400 |
| Combined Cellular And Humoral Immune Defects With Granulomas |
|
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia |
OMIM:233650 |
| Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Bulging epiphyses, Bowing of the long bones, Delayed epiphyseal ossification, Rickets, Genu varum... |
OMIM:600785 |
| Osteopetrosis, Autosomal Recessive 9 |
|
Increased bone mineral density, Cortical sclerosis, Osteopetrosis, Pathologic fracture, Anemia |
OMIM:620366 |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis |
OMIM:241520 |
| Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Decreased proportion of CD8-positive T cells, Decreased circulating total IgM, Decreased proporti... |
OMIM:611926 |
| Immunodeficiency 48 |
|
Absence of CD8-positive T cells, Splenomegaly, Panhypogammaglobulinemia |
OMIM:269840 |
| Osteopetrosis, Autosomal Recessive 8 |
|
Splenomegaly, Thrombocytopenia, Osteopetrosis, Anemia |
OMIM:615085 |
| Osteosclerosis With Ichthyosis And Fractures |
|
Increased bone mineral density, Recurrent fractures, Femoral bowing, Tibial bowing, Cortical thic... |
OMIM:166740 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Aplastic anemia, Dysgammaglobulinem... |
OMIM:308240 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Refractory anemia, Myelofibrosis, Increased bone mineral density, Thrombocytopenia, Diaphyseal dy... |
OMIM:231095 |
| Mueller-Weiss Syndrome |
|
Limitation of movement at ankles, Sclerosis of foot bone, Tibiofibular diastasis, Joint stiffness... |
ORPHA:566943 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Splenomegaly, Recurrent upper respiratory tract infections, Hepatosplenomegaly, Lymphadenopathy, ... |
OMIM:613101 |
| Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Anti-th... |
OMIM:618534 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Monocytosis, Decreased circulat... |
OMIM:619281 |
| Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Generalized osteosclerosis, Clavicular sclerosis, Abnormal cortical bo... |
ORPHA:2790 |
| Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Increased circulat... |
OMIM:617241 |
| Congenital Disorder Of Glycosylation, Type Iir |
|
Decreased proportion of CD4-positive T cells, Hepatomegaly, Jaundice, Micronodular cirrhosis, Dec... |
OMIM:301045 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Increased bone mineral density, Pancytopenia, Femur fracture, Osteomyelitis, Craniosynostosis, Sp... |
OMIM:259700 |
| Isolated Osteopoikilosis |
|
Syndactyly, Abnormally ossified vertebrae, Increased bone mineral density, Abnormal pelvis bone m... |
ORPHA:166119 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Hepatomegaly, Lymphoproliferative disorder, Recurrent respiratory... |
OMIM:614470 |
| Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Scleros... |
ORPHA:85188 |
| Dentin Dysplasia With Sclerotic Bones |
|
Cortical sclerosis |
OMIM:125440 |
| Immunodeficiency 11A |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Agamm... |
OMIM:615206 |
| Hip Dysplasia, Beukes Type |
|
Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea... |
ORPHA:2114 |
| Leukocyte Adhesion Deficiency, Type Iii |
|
Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Osteopetrosis, Anemia |
OMIM:612840 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA level, Decreased proportion ... |
ORPHA:169154 |
| Immunodeficiency 20 |
|
Reduced natural killer cell count, Reduced natural killer cell activity |
OMIM:615707 |
| Cd8 Deficiency, Familial |
|
Absence of CD8-positive T cells |
OMIM:608957 |
| Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent bacterial infections, Recurrent protozoan infections, Abnormality of T cell physiology,... |
OMIM:308220 |
| Autoimmune Lymphoproliferative Syndrome |
|
Rheumatoid factor positive, Increased circulating IgG level, Iron deficiency anemia, Platelet ant... |
OMIM:601859 |
| Flynn-Aird Syndrome |
|
Increased bone mineral density, Osteoporosis, Increased bone density with cystic changes, Joint s... |
OMIM:136300 |
| Monocyte Chemotactic Disorder |
|
Cutaneous anergy, Chronic mucocutaneous candidiasis |
OMIM:252250 |
| Chylous Ascites |
|
Ascites, Neoplasm, Pancreatitis, Lymphedema |
ORPHA:1160 |
| Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Fluctuating splenomegaly, Neutropenia i... |
OMIM:619220 |
| Melorheostosis |
|
Increased bone mineral density, Joint stiffness, Hyperostosis, Arthritis, Ectopic ossification in... |
ORPHA:2485 |
| Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Increased bone mineral density, Craniosynostosis |
ORPHA:178377 |
| Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Splenomegaly, Increased bone mineral density, Abnormal cortical bone morphology, Abnormal limb bo... |
ORPHA:2204 |
| Endosteal Hyperostosis, Autosomal Dominant |
|
Hyperostosis, Abnormal pelvic girdle bone morphology, Metacarpal diaphyseal endosteal sclerosis, ... |
OMIM:144750 |
| Trichodentoosseous Syndrome |
|
Increased bone mineral density |
OMIM:190320 |
| Body Mass Index Quantitative Trait Locus 20 |
|
Increased bone mineral density |
OMIM:618406 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Large placenta, Umbilical hernia, Polyhydramnios |
ORPHA:254534 |
| Osteoporosis |
|
Osteoporosis |
OMIM:166710 |
| Angioosteohypotrophic Syndrome |
|
Abnormal trabecular bone morphology, Hypoplasia of the ulna, Short humerus, Aplasia/hypoplasia in... |
ORPHA:75508 |
| Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Clinodactyly of the 5th finger, Increased bone mineral density, Osteopetrosis |
OMIM:617306 |
| Reticular Dysgenesis |
|
Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl... |
OMIM:267500 |
| Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
| Osteopetrosis, Autosomal Recessive 3 |
|
Extramedullary hematopoiesis, Cranial hyperostosis, Diaphyseal sclerosis, Hepatosplenomegaly, Ost... |
OMIM:259730 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Increased bone mineral density, High iliac wing, Osteopetrosis, Large iliac wing, Facial hyperost... |
ORPHA:2780 |
| Immunodeficiency 97 With Autoinflammation |
|
Decreased circulating IgG level, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ r... |
OMIM:619802 |
| Autoimmune Hepatitis |
|
Viral hepatitis, Acute hepatitis, Liver kidney microsome type 1 antibody positivity, Antinuclear ... |
ORPHA:2137 |
| Immunodeficiency, Common Variable, 1 |
|
Hepatomegaly, Impaired T cell function, Splenomegaly, Recurrent pneumonia, Neutropenia in presenc... |
OMIM:607594 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Recurrent viral infections, T lymphocytopenia, Recurrent abscess formation, Hepatomegaly, Portal ... |
ORPHA:79124 |
| Immunoglobulin A Deficiency 2 |
|
Recurrent sinopulmonary infections, Autoimmunity, Abnormal lymphocyte morphology, Recurrent infec... |
OMIM:609529 |
| Immunodeficiency 109 With Lymphoproliferation |
|
Pancytopenia, Generalized lymphadenopathy, Decreased lymphocyte proliferation in response to anti... |
OMIM:620282 |
| Immunodeficiency, Common Variable, 7 |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Splenomegaly, Chronic (near... |
OMIM:614699 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Abnormal trabecular bone morphology, Femur fracture, Splenomegaly, Decreased circulating total Ig... |
OMIM:612301 |
| Immunodeficiency 22 |
|
Decreased circulating IgG level, Autoimmunity, Thrombocytopenia, Recurrent upper respiratory trac... |
OMIM:615758 |
| Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Lymphoproliferative disorder, B-cell lym... |
OMIM:613011 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Autoimmunity, Absence of lymph node germinal center, Recurrent opportunistic infections, Increase... |
ORPHA:277 |
| Caspase 8 Deficiency |
|
Recurrent sinopulmonary infections, Complete or near-complete absence of specific antibody respon... |
OMIM:607271 |
| Persistent Polyclonal B-Cell Lymphocytosis |
|
Hepatomegaly, Splenomegaly, Recurrent infections, Decreased circulating total IgM, Lymphocytosis |
OMIM:606445 |
| Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Splenomegaly, Osteopetrosis |
OMIM:618541 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Increased skull ossification, Craniofacial osteosclerosis, Metaphyseal widening, Diaphyseal scler... |
OMIM:618476 |
| Primary Intestinal Lymphangiectasia |
|
Lymphopenia, Generalized edema, Peritoneal effusion, Edema, Disseminated cutaneous warts, Pericar... |
ORPHA:90362 |
| Candidiasis, Familial, 1 |
|
Cutaneous anergy, Chronic mucocutaneous candidiasis, Recurrent viral infections |
OMIM:114580 |
| Diffuse Neonatal Hemangiomatosis |
|
Hepatomegaly, Hemangiomatosis, Polyhydramnios, Visceral angiomatosis, Thrombocytopenia, Hydrops f... |
ORPHA:2123 |
| Immunoglobulin A Deficiency 1 |
|
Recurrent respiratory infections, Autoimmunity, Recurrent infections, Recurrent infection of the ... |
OMIM:137100 |
| Otopalatodigital Syndrome Type 1 |
|
Increased bone mineral density, Bowing of the long bones, Sandal gap, Short hallux, Proximal plac... |
ORPHA:90650 |
| Lethal Recessive Chondrodysplasia |
|
Generalized osteosclerosis, Short long bone, Flared elbow metaphyses |
ORPHA:1423 |
| Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Recurrent respiratory infections, Recurrent sinopulmonary infections, Recurrent ear infections, S... |
OMIM:615513 |
| Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Panc... |
OMIM:619924 |
| Hepatoportal Sclerosis |
|
Portal hypertension, Nodular regenerative hyperplasia of liver, Portal vein thrombosis, Hypersple... |
ORPHA:64743 |
| Fetal Parvovirus Syndrome |
|
Increased nuchal translucency, Hydrops fetalis, Anemia, Ascites, Thrombocytopenia |
ORPHA:295 |
| Gnathodiaphyseal Dysplasia |
|
Osteopenia, Bowing of the long bones, Osteomyelitis, Diaphyseal cortical sclerosis, Increased sus... |
OMIM:166260 |
| Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Esophageal neoplasm, Hepatomegaly, Ascites |
ORPHA:2198 |
| Tempi Syndrome |
|
Transudative pleural effusion, Increased circulating IgG level, Increased hematocrit, Hemangioma,... |
ORPHA:284227 |
| B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Recurrent infection... |
OMIM:616452 |
| Hydrops Fetalis |
|
Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pericardial effusion, Abnormality of the l... |
ORPHA:1041 |
| Paget Disease Of Bone 3 |
|
Fractures of the long bones, Osteolysis, Patchy osteosclerosis |
OMIM:167250 |
| Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Increased circulating IgE level, Hypereosinophilia, Abnormal proportion of... |
OMIM:212050 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Increased bone mineral density, Extramedullary hematopoiesis, Pancytopenia, Thrombocytopenia, Leu... |
OMIM:259720 |
| Axial Osteomalacia |
|
Increased bone mineral density, Osteomalacia |
OMIM:109130 |
| Intermediate Osteopetrosis |
|
Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Thrombocytope... |
ORPHA:210110 |
| T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
T lymphocytopenia, Decreased helper T cell proportion |
OMIM:601705 |
| Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... |
OMIM:606843 |
| Griscelli Syndrome |
|
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Pedal edema, Decreas... |
ORPHA:381 |
| Splenoportal Vascular Anomalies |
|
Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites |
OMIM:271500 |
| Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Hypochromic microcytic anemia, Osteopetrosis, Thrombocytopenia |
ORPHA:3240 |
| Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Polyhydramnios, Splenomegaly, Ascites, Anemia, Oligohydramnios |
ORPHA:1046 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Rheumatoid factor positive, Increased circulating IgG level, Iron deficiency anemia, Platelet ant... |
OMIM:603909 |
| Nephrosialidosis |
|
Pericardial effusion, Ascites, Bone-marrow foam cells |
OMIM:256150 |
| Premature Ovarian Failure 3 |
|
Hypoplasia of the uterus, Premature ovarian insufficiency, Secondary amenorrhea |
OMIM:608996 |
| Activated Pi3K-Delta Syndrome |
|
Hepatomegaly, Autoimmunity, Splenomegaly, Lymphoma, Recurrent tonsillitis, Lymphadenopathy, Decre... |
ORPHA:397596 |
| Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hepatomegaly, Generalized edema, Edema, Decreased circulating antibody level, Recurrent infection... |
OMIM:226300 |
| Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Autoimmunity, Hashimoto thyroiditis, Recurrent viral infections, Recurrent mycobacterial infectio... |
ORPHA:275 |
| Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Craniofacial hyperostosis, Craniofacial osteosclerosis, Diaphyseal sclerosis, Cortical sclerosis |
OMIM:122860 |
| Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Autoimmune hemolytic anemia, Recurrent urinary tract infections, Recurrent respirat... |
OMIM:618495 |
| Ovarian Fibroma |
|
Mesenteric cyst, Odontogenic keratocysts of the jaw, Ovarian fibroma, Peritonitis, Basal cell car... |
ORPHA:314473 |
| Desmoplastic Small Round Cell Tumor |
|
Neoplasm of the pancreas, Hepatomegaly, Abnormal peritoneum morphology, Testicular neoplasm, Medi... |
ORPHA:83469 |
| Albers-Schönberg Osteopetrosis |
|
Abnormal leukocyte morphology, Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Gene... |
ORPHA:53 |
| Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Splenom... |
ORPHA:444463 |
| Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... |
OMIM:617514 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Bulging epiphyses, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ossification, Rick... |
OMIM:600081 |
| Hypocomplementemic Urticarial Vasculitis |
|
Hepatomegaly, Autoimmunity, Pericardial effusion, Splenomegaly, Angioedema, Lymphoma, Lymphadenop... |
ORPHA:36412 |
| Portal Hypertension, Noncirrhotic, 2 |
|
Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenomegaly, Recur... |
OMIM:619463 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Bulging epiphyses, Osteomalacia, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ossi... |
OMIM:300554 |
| Sialidosis Type 2 |
|
Hepatomegaly, Splenomegaly, Hydrops fetalis, Pedal edema, Ascites |
ORPHA:87876 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Hepatomegaly, Increased circulating interleukin 6 concentration, Reduced natural killer cell acti... |
ORPHA:540 |
| Placental Insufficiency |
|
Abnormal placenta morphology, Abnormal umbilical cord blood vessel morphology, Small placenta |
ORPHA:439167 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Finger syndactyly, Increased bone mineral density, Aplastic clavicle, Abnormal metacarpal morphol... |
ORPHA:2658 |
| Aggressive Systemic Mastocytosis |
|
Pancytopenia, Portal hypertension, Hematological neoplasm, Hypersplenism, Thrombocytopenia, Leuko... |
ORPHA:98850 |
| Schnitzler Syndrome |
|
Increased bone mineral density, Splenomegaly, Leukocytosis, Arthritis, Increased circulating IgM ... |
ORPHA:37748 |
| Congenital Pulmonary Lymphangiectasia |
|
Hepatomegaly, Splenomegaly, Hydrops fetalis, Chylopericardium, Pleural effusion, Ascites |
ORPHA:2414 |
| Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Hydrops fetalis, Ascites |
OMIM:269920 |
| Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Absent specific antibody response, Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmu... |
OMIM:619846 |
| Congenital Toxoplasmosis |
|
Hepatomegaly, Cardiomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Ascites, Anemia |
ORPHA:858 |
| Immunodeficiency 36 With Lymphoproliferation |
|
Lymphopenia, B-cell lymphoma, Autoimmunity, Splenomegaly, Recurrent upper respiratory tract infec... |
OMIM:616005 |
| Hepatic Veno-Occlusive Disease |
|
Hepatomegaly, Jaundice, Ascites |
ORPHA:890 |
| Malignant Peritoneal Mesothelioma |
|
Ascites, Peritonitis, Neoplasm, Pedal edema |
ORPHA:168811 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Abnormal CD4:CD8 ratio, Recurrent viral infections, Recurrent candida infections, T lymphocytopen... |
ORPHA:572 |
| Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Increased bone mineral density, Broad femoral neck, Short tubular bones of the hand, ... |
ORPHA:85184 |
| Griscelli Syndrome, Type 2 |
|
Recurrent bacterial infections, Hemophagocytosis, Reduced delayed hypersensitivity, Hepatosplenom... |
OMIM:607624 |
| Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Recurrent respiratory infections, Decreased proportion of marginal zone B cells, Au... |
OMIM:619375 |
| Ovarian Dysgenesis 6 |
|
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Primary amenorrhea |
OMIM:618078 |
| Ectodermal Dysplasia And Immunodeficiency 1 |
|
Dysgammaglobulinemia, Increased circulating IgA level, Reduced natural killer cell activity, Lymp... |
OMIM:300291 |
| Agammaglobulinemia 8B, Autosomal Recessive |
|
Pancytopenia, Splenomegaly, B Acute Lymphoblastic Leukemia, Decreased proportion of CD8-positive,... |
OMIM:619824 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal T cell count, Recurrent viral infections, Lymphadenitis, Decreased proportion of CD3-pos... |
ORPHA:331206 |
| Chondrodysplasia, Blomstrand Type |
|
Generalized osteosclerosis, Squared iliac bones, Flared metaphysis, Advanced ossification of carp... |
OMIM:215045 |
| Free Sialic Acid Storage Disease |
|
Hepatomegaly, Recurrent respiratory infections, Splenomegaly, Hydrops fetalis, Ascites |
ORPHA:834 |
| Mulibrey Nanism |
|
Hepatomegaly, Cardiomegaly, Hydrops fetalis, Recurrent lower respiratory tract infections, Nephro... |
OMIM:253250 |
| Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Ascites, Polycystic liver disease |
OMIM:174050 |
| Immunodeficiency 102 |
|
Decreased circulating IgG level, Partial absence of specific antibody response to Haemophilus inf... |
OMIM:301082 |
| Florid Cemento-Osseous Dysplasia |
|
Mandibular osteomyelitis, Abnormal trabecular bone morphology, Multiple bony cystic lesions, Abno... |
ORPHA:83451 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Umbilical hernia, Large placenta, Polyhydramnios |
ORPHA:254528 |
| Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Genital edema, Autoimmunity, Absent peripheral lymph nodes in presence of infection, Abnormal imm... |
ORPHA:98813 |
| Diastrophic Dysplasia |
|
Increased bone mineral density, Bowing of the long bones, Camptodactyly of finger, Proximal place... |
ORPHA:628 |
| Autoinflammation With Infantile Enterocolitis |
|
Pancytopenia, Reduced natural killer cell activity, Splenomegaly, Anemia, Reduced natural killer ... |
OMIM:616050 |
| Primary Biliary Cholangitis |
|
Autoimmunity, Portal hypertension, Increased circulating IgA level, Antinuclear antibody positivi... |
ORPHA:186 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Recurrent infections, Anemia, Leukopeni... |
OMIM:615285 |
| Familial Atrial Myxoma |
|
Cardiomegaly, Cardiac myxoma, Jaundice, Cholestasis, Pedal edema, Ascites |
ORPHA:615 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Sepsis, Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hemolytic anemia... |
OMIM:308230 |
| Premature Ovarian Failure 13 |
|
Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l... |
OMIM:617442 |
| Ovarian Hyperstimulation Syndrome |
|
Ascites |
OMIM:608115 |
| Desmosterolosis |
|
Metatarsus adductus, Splenomegaly, Increased bone mineral density, Osteopetrosis |
ORPHA:35107 |
| Gaucher Disease Type 1 |
|
Hepatomegaly, Pancytopenia, Hypersplenism, Thrombocytopenia, Splenomegaly, Pericardial effusion, ... |
ORPHA:77259 |
| Ovarian Dysgenesis 2 |
|
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Secondary amenorrh... |
OMIM:300510 |
| Cernunnos-Xlf Deficiency |
|
Autoimmunity, Recurrent viral infections, Thrombocytopenia, Decreased circulating antibody level,... |
ORPHA:169079 |
| Perrault Syndrome 6 |
|
Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Primary amenorrhea, Second... |
OMIM:617565 |
| Granulomatous Disease, Chronic, X-Linked |
|
Recurrent Aspergillus infections, Hepatomegaly, Recurrent bacterial skin infections, Liver absces... |
OMIM:306400 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Recurrent urinary tract infections, Impaired T cell function, Pure r... |
OMIM:613179 |
| Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Bulging epiphyses, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ossification, Rick... |
OMIM:241530 |
| Cardiomyopathy, Familial Restrictive, 6 |
|
Hepatomegaly, Ascites, Portal vein hypoplasia, Hydrops fetalis |
OMIM:619433 |
| Secondary Intestinal Lymphangiectasia |
|
Decreased circulating IgG1 level, Intestinal lymphedema, B-cell lymphoma, Autoimmunity, Edema, Ly... |
ORPHA:90363 |
| Lymphangiectasia, Pulmonary, Congenital |
|
Recurrent respiratory infections, Palpebral edema, Nonimmune hydrops fetalis, Edema, Polyhydramni... |
OMIM:265300 |
| Focal Segmental Glomerulosclerosis 1 |
|
Pleural effusion, Ascites, Anemia, Edema |
OMIM:603278 |
| Trichohepatoenteric Syndrome 1 |
|
Hypospadias, Polyhydramnios, Increased mean platelet volume, Large placenta, Splenomegaly, Abnorm... |
OMIM:222470 |
| Ataxia-Pancytopenia Syndrome |
|
Recurrent respiratory infections, Pancytopenia, Abnormal macrophage morphology, Abnormality of ne... |
ORPHA:2585 |
| Neuraminidase Deficiency |
|
Hepatomegaly, Bone-marrow foam cells, Cardiomegaly, Facial edema, Splenomegaly, Vacuolated lympho... |
OMIM:256550 |
| Glycogen Storage Disease Iv |
|
Edema, Portal hypertension, Polyhydramnios, Hydrops fetalis, Hepatosplenomegaly, Cirrhosis, Ascites |
OMIM:232500 |
| Niemann-Pick Disease, Type A |
|
Hepatomegaly, Recurrent respiratory infections, Bone-marrow foam cells, Microcytic anemia, Spleno... |
OMIM:257200 |
| Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Hepatomegaly, Polyhydramnios, Fetal ascites, Splenomegaly, Hydrops fetalis |
OMIM:619462 |
| Premature Ovarian Failure 7 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Secondary amenor... |
OMIM:612964 |
| Ovarian Fibrothecoma |
|
Diffuse leiomyomatosis, Ovarian fibroma, Peritonitis, Pleural effusion, Fibrosarcoma, Ascites |
ORPHA:314478 |
| Pediatric Systemic Lupus Erythematosus |
|
Lymphopenia, Antiphospholipid antibody positivity, Edema, Antinuclear antibody positivity, Perica... |
ORPHA:93552 |
| Immunodeficiency 70 |
|
Decreased circulating total IgG, Decreased circulating antibody level, Decreased circulating tota... |
OMIM:618969 |
| Poems Syndrome |
|
Lymphoproliferative disorder, Edema, Pericardial effusion, Lymphadenopathy, Pleural effusion, Inc... |
ORPHA:2905 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Bowing of the long bones, Recurrent fractures, Craniosynostosis, Splenomegaly, Reduced bone miner... |
ORPHA:667 |
| Spondyloepiphyseal Dysplasia Tarda |
|
Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint, Limited e... |
ORPHA:93284 |
| Premature Ovarian Failure 6 |
|
Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Fe... |
OMIM:612310 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Cardiomegaly, Pericardial effusion, Pleural effusion, Ascites, Oligohydramnios |
OMIM:614702 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Increased bone mineral density, Coxa valga, Wide anterior fontanel, Flat acetabular roof, Flatten... |
ORPHA:163649 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Hepatomegaly, Edema, Pericardial effusion, Hepatosplenomegaly, Ascites |
OMIM:608776 |
| Wiskott-Aldrich Syndrome |
|
Sepsis, Abnormal delayed hypersensitivity skin test, Iron deficiency anemia, Absent microvilli on... |
OMIM:301000 |
| Dent Disease 1 |
|
Bulging epiphyses, Osteomalacia, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ossi... |
OMIM:300009 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Bulging epiphyses, Recurrent fractures, Bowing of the legs, Subperiosteal bone resorption, Delaye... |
OMIM:264700 |
| Immunodeficiency 87 And Autoimmunity |
|
Abnormal lymphocyte proliferation, Recurrent viral infections, Sepsis, Hepatic steatosis, Decreas... |
OMIM:619573 |
| Meckel Syndrome, Type 1 |
|
Accessory spleen, Occipital encephalocele, External genital hypoplasia, Asplenia, Breech presenta... |
OMIM:249000 |
| Kagami-Ogata Syndrome |
|
Large placenta, Premature birth, Polyhydramnios |
ORPHA:254519 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Bulging epiphyses, Recurrent fractures, Bowing of the legs, Subperiosteal bone resorption, Delaye... |
OMIM:277440 |
| Insulin Autoimmune Syndrome |
|
Autoimmune antibody positivity, Increased circulating antibody level, Autoimmunity, Systemic lupu... |
ORPHA:411593 |
| Dysosteosclerosis |
|
Craniofacial hyperostosis, Increased bone mineral density, Recurrent fractures, Abnormal metaphys... |
ORPHA:1782 |
| Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... |
OMIM:617300 |
| Silver-Russell Syndrome Due To A Point Mutation |
|
Bifid scrotum, Hypospadias, Dysmenorrhea, Cryptorchidism, Abnormality of the scrotum, Microphallu... |
ORPHA:397590 |
| Osteogenesis Imperfecta, Type Xiii |
|
Angulated humerus, Increased bone mineral density, Arachnodactyly, Recurrent fractures, Joint hyp... |
OMIM:614856 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Recurrent upper respirato... |
OMIM:615952 |
| Klippel-Trénaunay Syndrome |
|
Hepatomegaly, Edema, Microcytic anemia, Hydrops fetalis, Hemangioma, Ascites |
ORPHA:90308 |
| Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammation, Portal fibro... |
OMIM:602347 |
| Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Osteopenia, Stenosis of the medullary cavity of the long bones, Diaphyseal cortical sclerosis, Pa... |
OMIM:112250 |
| 46,Xy Sex Reversal 11 |
|
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Primary amenorrhea, ... |
OMIM:273250 |
| Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Hepatomegaly, Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Sp... |
ORPHA:436159 |
| Immunodeficiency 17 |
|
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Chronic decreased ciru... |
OMIM:615607 |
| Immunodeficiency 25 |
|
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating... |
OMIM:610163 |
| Hemochromatosis, Type 1 |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Pleural effusion, ... |
OMIM:235200 |
| Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Hepatomegaly, Lymphopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly... |
OMIM:616100 |
| Mosaic Trisomy 16 |
|
Large placenta, Single umbilical artery, Premature birth, Hypospadias |
ORPHA:1708 |
| Immunodeficiency 85 And Autoimmunity |
|
Decreased circulating IgG level, T lymphocytopenia, Decreased circulating total IgM, Decreased ci... |
OMIM:619510 |
| Greenberg Dysplasia |
|
Nonimmune hydrops fetalis, Polyhydramnios, Echogenic fetal bowel, Large placenta, Increased nucha... |
OMIM:215140 |
| Intrahepatic Cholestasis Of Pregnancy |
|
Autoimmunity, Abnormality of the pancreas, Jaundice, Abnormal circulating interleukin concentrati... |
ORPHA:69665 |
| Pseudomyxoma Peritonei |
|
Abnormal peritoneum morphology, Ascites, Lymphadenopathy |
ORPHA:26790 |
| Combined Immunodeficiency Due To Zap70 Deficiency |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T... |
ORPHA:911 |
| Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Autoimmunity... |
OMIM:617006 |
| Selective Igm Deficiency |
|
Recurrent staphylococcal infections, Lymphadenitis, Paraproteinemia, Sepsis, Recurrent cutaneous ... |
ORPHA:331235 |
| Wolman Disease |
|
Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Ascites, Anemia |
ORPHA:75233 |
| X-Linked Hypophosphatemia |
|
Bowing of the legs, Generalized osteosclerosis, Trapezoidal distal femoral condyles, Reduced bone... |
ORPHA:89936 |
| Autoimmune Lymphoproliferative Syndrome |
|
Rheumatoid factor positive, Hepatocellular carcinoma, Hydrops fetalis, Increased circulating IgG ... |
ORPHA:3261 |
| Hermansky-Pudlak Syndrome 2 |
|
Hepatomegaly, Absent platelet dense granules, Chronic oral candidiasis, Reduced natural killer ce... |
OMIM:608233 |
| Bare Lymphocyte Syndrome, Type Ii |
|
Viral hepatitis, Recurrent urinary tract infections, Cholangitis, Recurrent viral infections, Rec... |
OMIM:209920 |
| Primary Sclerosing Cholangitis |
|
Abnormal eosinophil morphology, Hepatic fibrosis, Neoplasm of the gallbladder, Adenocarcinoma of ... |
ORPHA:171 |
| Classic Galactosemia |
|
Hepatomegaly, Abnormal erythrocyte enzyme level, Jaundice, Sepsis, Ascites |
ORPHA:79239 |
| Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Predominantly lower limb lymphedema, Palpebral edema, Abnormality of the lymphatic system, Hydrop... |
ORPHA:69735 |
| Hennekam Syndrome |
|
Benign neoplasm of the central nervous system, Lymphopenia, Recurrent respiratory infections, Lym... |
ORPHA:2136 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Craniosynostos... |
ORPHA:289176 |
| Thymoma |
|
Aplastic anemia, Autoimmunity, Neoplasm of head and neck, Pure red cell aplasia, Abnormal lymphoc... |
ORPHA:99867 |
| Diethylstilbestrol Syndrome |
|
Premature ovarian insufficiency, Premature birth, Vaginal neoplasm, Hypospadias, Decreased fertil... |
ORPHA:1916 |
| Lymphatic Malformation 6 |
|
Genital edema, Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Splenomegaly, Polyhydr... |
OMIM:616843 |
| Peripheral Primitive Neuroectodermal Tumor |
|
Neoplasm of the pancreas, Brain neoplasm, Pelvic mass, Jaundice, Spinal cord tumor, Ovarian neopl... |
ORPHA:370348 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hepatomegaly, Autoimmune hemolytic anemia, Chronic oral candidiasis, Splenomegaly, Lymphadenopath... |
OMIM:301078 |
| Immunodeficiency 13 |
|
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... |
OMIM:615518 |
| Premature Ovarian Failure 18 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... |
OMIM:619203 |
| Tricho-Dento-Osseous Syndrome |
|
Finger clinodactyly, Increased bone mineral density, Periapical tooth abscess |
ORPHA:3352 |
| Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... |
OMIM:617394 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hepatomegaly, Pancytopenia, Edema, Reduced natural killer cell activity, Thrombocytopenia, Spleno... |
OMIM:603553 |
| Immunodeficiency 60 And Autoimmunity |
|
Recurrent sinopulmonary infections, Pancytopenia, Splenomegaly, Perinuclear antineutrophil antibo... |
OMIM:618394 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Hepatomegaly, Edema, Cholestasis, Anemia, Ascites, Thrombocytopenia, Oligohydramnios |
OMIM:608104 |
| Majeed Syndrome |
|
Increased bone mineral density, Osteomyelitis, Congenital hypoplastic anemia, Splenomegaly, Leuko... |
ORPHA:77297 |
| Unclassified Myelodysplastic Syndrome |
|
Acute myeloid leukemia, Autoimmunity, Myelodysplasia, Leukocytosis, Bone marrow hypocellularity, ... |
ORPHA:98827 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Osteomalacia, Irregular, rachitic-like metaphyses, Subperiosteal bone resorption, Delayed epiphys... |
ORPHA:289157 |
| Dysosteosclerosis |
|
Osteopenia, Sclerosis of hand bone, Sclerotic scapulae, Abnormal metaphyseal trabeculation, Flare... |
OMIM:224300 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Polyhydramnios, Pericardial effusion, Recurrent upper respiratory tract infections, Decreased cir... |
OMIM:618183 |
| Primary Hepatic Neuroendocrine Carcinoma |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chronic noninfectious lymphadenopa... |
ORPHA:100085 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Pancytopenia, Recurrent fractures, Anemia, Leukopenia, Elliptocytosis, Osteopetrosis, Bone marrow... |
ORPHA:2785 |
| Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Sarcoma |
ORPHA:66661 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Nonimmune hydrops fetalis, Thrombocytopenia, ... |
OMIM:617021 |
| Restrictive Dermopathy |
|
Decreased fetal movement, Premature birth, Premature delivery because of cervical insufficiency o... |
ORPHA:1662 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Hepatomegaly, Nonimmune hydrops fetalis, Portal hypertension, Polyhydramnios, Hepatosplenomegaly,... |
ORPHA:367 |
| Combined Oxidative Phosphorylation Deficiency 5 |
|
Ascites, Edema |
OMIM:611719 |
| Beemer-Ertbruggen Syndrome |
|
Increased bone mineral density, Thrombocytopenia |
ORPHA:1237 |
| T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce... |
ORPHA:35078 |
| 46,Xy Sex Reversal 3 |
|
Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Hypoplasia of the uterus... |
OMIM:612965 |
| Subcorneal Pustular Dermatosis |
|
Autoimmunity, Systemic lupus erythematosus, Increased circulating antibody level, Rheumatoid arth... |
ORPHA:48377 |
| Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hemolytic anemia, Hepatomegaly, Autoimmunity, Recurrent viral infections, Splenomegaly, Recurrent... |
ORPHA:169090 |
| Mucopolysaccharidosis Type 7 |
|
Recurrent respiratory infections, Lymphedema, Splenomegaly, Hepatitis, Hydrops fetalis, Ascites |
ORPHA:584 |
| Aicardi-Goutieres Syndrome 9 |
|
Hemolytic anemia, Hepatomegaly, Acute pancreatitis, Recurrent urinary tract infections, Portal hy... |
OMIM:619487 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Polyhydramnios, Cardiomegaly, Hydrops fetalis, Pleural effusion, Ascites |
OMIM:616897 |
| Leydig Cell Hypoplasia |
|
Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp... |
ORPHA:755 |
| Budd-Chiari Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Peritonitis, Cholecystitis, Cirrhosis,... |
ORPHA:131 |
| Alg8-Cdg |
|
Edema, Hydrops fetalis, Anemia, Ascites, Thrombocytopenia, Oligohydramnios |
ORPHA:79325 |
| Macrophage Activation Syndrome |
|
Hepatomegaly, Increased circulating interleukin 6 concentration, Autoimmunity, Thrombocytopenia, ... |
ORPHA:158061 |
| Beckwith-Wiedemann Syndrome |
|
Premature birth, Polyhydramnios, Large placenta, Cryptorchidism, Splenomegaly, Abnormal pancreas ... |
ORPHA:116 |
| Wolcott-Rallison Syndrome |
|
Hepatomegaly, Jaundice, Dehydration, Recurrent infections, Iron deficiency anemia, Abnormality of... |
ORPHA:1667 |
| Gallbladder Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy, Biliary tract neoplasm, Extrahepatic cholestasis, Intermit... |
ORPHA:100086 |
| Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Macrocytic anemia, Pancytopenia, Autoimmunity, Anemia of inadequate production, Megaloblastic ane... |
OMIM:617780 |
| Felty Syndrome |
|
Hepatomegaly, Recurrent urinary tract infections, Recurrent respiratory infections, Autoimmunity,... |
ORPHA:47612 |
| Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Hypoplasia of the uterus, Aplasia of the vagina, Amenorrhea |
OMIM:277000 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Osteopenia, Short humerus, Increased bone mineral density, Bowing of the long bones, Recurrent fr... |
OMIM:239000 |
| Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Hypogonadism, Small placenta |
ORPHA:73272 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Generalized lymphadenopathy, Sepsis, Decreased circulating IgG level, Autoimmune thrombocytopenia... |
OMIM:614700 |
| Immunodeficiency 21 |
|
Aplastic anemia, B lymphocytopenia, Cervical intraepithelial neoplasia, Neutropenia, Monocytopeni... |
OMIM:614172 |
| Necrotizing Enterocolitis |
|
Neonatal sepsis, Edema, Peritonitis, Leukocytosis, Neutropenia, Ascites, Thrombocytopenia |
ORPHA:391673 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Premature birth, External genital hypoplasia, Polyhydramnios, Cryptorchidism, Large placenta, Spi... |
ORPHA:96334 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hepatomegaly, Polyhydramnios, Thyroid lymphangiectasia, Lymphedema, Splenomegaly, Pancreatic lymp... |
OMIM:235255 |
| Rothmund-Thomson Syndrome Type 2 |
|
Osteopenia, Abnormal trabecular bone morphology, Short metacarpal, Aplastic anemia, Aplasia/hypop... |
ORPHA:221016 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Recurrent urinary tract infections, Decreased proportion of naive T cells, Aplasia of the thymus,... |
ORPHA:83471 |
| X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Abnormality of the tonsils, Autoimmunity, Thrombocytopenia... |
ORPHA:47 |
| Carney Triad |
|
Gastrointestinal stroma tumor, Mediastinal lymphadenopathy, Leiomyosarcoma, Lymphadenopathy, Adre... |
ORPHA:139411 |
| Camurati-Engelmann Disease |
|
Increased bone mineral density, Diaphyseal sclerosis, Genu valgum, Cortical thickening of long bo... |
OMIM:131300 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Severe B lymphocytopenia, Recurrent viral infections, Hepatomegaly, B-cell lymphoma, Autoimmune t... |
OMIM:102700 |
| 46,Xy Sex Reversal 7 |
|
Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex... |
OMIM:233420 |
| Rothmund-Thomson Syndrome Type 1 |
|
Osteopenia, Abnormal trabecular bone morphology, Short metacarpal, Aplastic anemia, Metaphyseal s... |
ORPHA:221008 |
| Hydatidiform Mole |
|
Menometrorrhagia, Enlarged uterus, Anemia |
ORPHA:99927 |
| Rothmund-Thomson Syndrome |
|
Osteopenia, Abnormal trabecular bone morphology, Hypoplasia of the ulna, Broad ulna, Aplastic ane... |
ORPHA:2909 |
| Restrictive Dermopathy 1 |
|
Spontaneous chorioamniotic separation, Decreased fetal movement, Premature birth, Hypospadias, Po... |
OMIM:275210 |
| Immunodeficiency 7 |
|
Hepatomegaly, Autoimmune hemolytic anemia, Recurrent respiratory infections, Chronic oral candidi... |
OMIM:615387 |
| Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Liver abscess, Cholangitis, Sepsis, Cholecystitis, Decreased circulating IgG level, Recurrent str... |
ORPHA:183675 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirrhosis, Jaundice, Depletion of m... |
OMIM:251880 |
| Lymphangioleiomyomatosis |
|
Renal neoplasm, Recurrent respiratory infections, Lymphedema, Retinal hamartoma, Renal angiomyoli... |
ORPHA:538 |
| Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Nonimmune hydrops fetalis, Jaundice, Cirrhosis, Pleural effusion, Ascites |
OMIM:617049 |
| Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Nonimmune hydrops fetalis, Polyhydramnios, Cardiomegaly, Thrombocytopenia, Splenome... |
OMIM:608013 |
| Dysostosis, Stanescu Type |
|
Bowing of the long bones, Increased bone mineral density, Abnormal epiphysis morphology, Massivel... |
ORPHA:1798 |
| Eosinophilic Gastroenteritis |
|
Eosinophilia, Edema, Leukocytosis, Ascites, Anemia |
ORPHA:2070 |
| Farber Disease |
|
Intrahepatic cholestasis with episodic jaundice, Thrombocytopenia, Recurrent upper respiratory tr... |
ORPHA:333 |
| Caroli Disease |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c... |
ORPHA:53035 |
| T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Decreased circulating IgG level, Lymphopenia, Decreased proportion of naive T cells, Abnormal imm... |
ORPHA:276 |
| Progressive Multifocal Leukoencephalopathy |
|
Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells |
ORPHA:217260 |
| Partial Androgen Insensitivity Syndrome |
|
Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Male infertility, Hypospadias, Elevated ... |
ORPHA:90797 |
| Gamma-Heavy Chain Disease |
|
Hepatomegaly, Autoimmune hemolytic anemia, Recurrent respiratory infections, Autoimmunity, Autoim... |
ORPHA:100026 |
| Pseudo-Torch Syndrome 2 |
|
Hepatomegaly, Pleural effusion, Ascites, Thrombocytopenia |
OMIM:617397 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Aplasia of the thymus, Recurrent viral infections, Recurrent bronchopulmonary infections, Recurre... |
OMIM:242700 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Decreased circulating IgG level, Decreased proportion of CD8-positive T cells, Increased circulat... |
ORPHA:508533 |
| Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Splenomegaly, Leukocytosis, Recurrent respiratory infections, Decreased circulating antibody level |
OMIM:618042 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Decrease... |
OMIM:600802 |
| Immunodeficiency 96 |
|
Increased proportion of gamma-delta T cells, Recurrent infections, Decreased circulating total Ig... |
OMIM:619774 |
| Pycnodysostosis |
|
Increased bone mineral density, Aplastic clavicle, Osteolytic defects of the distal phalanges of ... |
OMIM:265800 |
| Congenital Sialidosis Type 2 |
|
Hepatomegaly, Ascites, Edema, Hepatosplenomegaly |
ORPHA:93400 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Inc... |
OMIM:602450 |
| Roifman Syndrome |
|
Eosinophilia, Recurrent pneumonia, Hepatosplenomegaly, Lymphadenopathy, Decreased circulating ant... |
ORPHA:353298 |
| Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Autoimmunity, Splenomegaly, Neutropenia in presence of anti-neutropi... |
ORPHA:231154 |
| Dengue Fever |
|
Leukopenia, Ascites, Thrombocytopenia, Hepatomegaly |
ORPHA:99828 |
| Dent Disease |
|
Enlarged epiphyses, Bulging epiphyses, Osteomalacia, Recurrent fractures, Bowing of the legs, Del... |
ORPHA:1652 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatomegaly, Polyhydramnios, Splenomegaly, Pancreatic lymphangiectasis, Pulmonary lymphangiectas... |
ORPHA:1655 |
| Grfoma |
|
Neoplasm of the pancreas, Hepatomegaly, Neoplasm of the thymus, Intrahepatic cholestasis, Pituita... |
ORPHA:97261 |
| Reynolds Syndrome |
|
Hepatomegaly, Jaundice, Xerostomia, Cirrhosis, Ascites |
ORPHA:779 |
| Vipoma |
|
Neoplasm of the pancreas, Hepatomegaly, Follicular thyroid carcinoma, Intrahepatic cholestasis, P... |
ORPHA:97282 |
| Gracile Bone Dysplasia |
|
Asplenia, Hypoplastic spleen, Ascites |
OMIM:602361 |
| Complete Androgen Insensitivity Syndrome |
|
Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circulating l... |
ORPHA:99429 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H... |
ORPHA:731 |
| Ovarian Hyperstimulation Syndrome |
|
Generalized edema, Enlarged polycystic ovaries, Peripheral edema, Pleural effusion, Ascites, Pulm... |
ORPHA:64739 |
| Ppoma |
|
Neoplasm of the pancreas, Hepatomegaly, Intrahepatic cholestasis, Pituitary adenoma, Abnormal abd... |
ORPHA:97278 |
| Cirrhotic Cardiomyopathy |
|
Hepatomegaly, Cardiomegaly, Jaundice, Peripheral edema, Cirrhosis, Left ventricular hypertrophy, ... |
ORPHA:57777 |
| Pgm3-Cdg |
|
Rheumatoid factor positive, Abnormal CD4:CD8 ratio, Recurrent viral infections, Sepsis, Increased... |
ORPHA:443811 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Aut... |
OMIM:243150 |
| Perlman Syndrome |
|
Renal hamartoma, Edema, Polyhydramnios, Nephroblastomatosis, Pancreatic islet-cell hyperplasia, N... |
OMIM:267000 |
| Somatostatinoma |
|
Neoplasm of the pancreas, Hepatomegaly, Intrahepatic cholestasis, Pituitary adenoma, Abnormal abd... |
ORPHA:97283 |
| Mullerian Aplasia And Hyperandrogenism |
|
Abnormal external genitalia, Primary amenorrhea, Aplasia of the vagina, Aplasia of the fallopian ... |
OMIM:158330 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Hepatomegaly, Pancytopenia, Impaired T cell function, Splenomegaly, Decreased specific anti-polys... |
OMIM:614576 |
| Pycnodysostosis |
|
Joint laxity, Increased bone mineral density, Generalized osteosclerosis, Small hand, Hepatosplen... |
ORPHA:763 |
| Cirrhosis, Familial |
|
Jaundice, Micronodular cirrhosis, Fulminant hepatitis, Biliary cirrhosis, Cirrhosis, Ascites |
OMIM:215600 |
| Functioning Gonadotropic Adenoma |
|
Enlarged polycystic ovaries, Pituitary gonadotropic cell adenoma, Ascites |
ORPHA:91348 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Hepatomegaly, Cardiomegaly, Pericardial effusion, Ascites, Pulmonary edema |
OMIM:115197 |
| Adams-Oliver Syndrome |
|
Portal hypertension, Congenital hepatic fibrosis, Leukopenia, Cirrhosis, Ascites, Thrombocytopenia |
ORPHA:974 |
| Autoimmune Hemolytic Anemia, Warm Type |
|
Autoimmune hemolytic anemia, Lymphoproliferative disorder, Autoimmunity, Splenomegaly, Jaundice, ... |
ORPHA:90033 |
| Short-Rib Thoracic Dysplasia 12 |
|
Hepatomegaly, Hamartoma of tongue, Edema, Polyhydramnios, Splenomegaly, Periportal fibrosis, Ascites |
OMIM:269860 |
| Common Variable Immunodeficiency |
|
Hemolytic anemia, Recurrent respiratory infections, Autoimmune thrombocytopenia, Gastrointestinal... |
ORPHA:1572 |
| T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Pancytopenia, Autoimmunity, Facial edema, Splenomegaly, Hemophagocytosis, Subcutaneous panniculit... |
OMIM:618398 |
| Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome |
|
Ascites |
ORPHA:2848 |
| Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Palpebral edema, Edema, Facial edema, Pedal edema, Anasarca, Pleural effusion, Ascites |
ORPHA:567546 |
| Autoimmune Hypoparathyroidism |
|
Increased bone mineral density |
ORPHA:36913 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Ascites, Hepatic fibrosis, Hydrops fetalis |
OMIM:614091 |
| Mosaic Variegated Aneuploidy Syndrome |
|
Vaginal neoplasm, Rhabdomyosarcoma, Myelodysplasia, Polyhydramnios, Increased nuchal translucency... |
ORPHA:1052 |
| Ascites, Chylous |
|
Chylous ascites |
OMIM:208300 |
| Blomstrand Lethal Chondrodysplasia |
|
Short metacarpal, Increased bone mineral density, Bowing of the long bones, Aplastic clavicle, Fl... |
ORPHA:50945 |
| Otopalatodigital Syndrome Type 2 |
|
Increased bone mineral density, Bowing of the long bones, Tarsal synostosis, Short hallux, Campto... |
ORPHA:90652 |
| Autoimmune Polyendocrinopathy Type 4 |
|
Macrocytic anemia, Antiphospholipid antibody positivity, Autoimmunity, Autoimmune thrombocytopeni... |
ORPHA:227990 |
| Fumarase Deficiency |
|
Polyhydramnios, Intrahepatic cholestasis, Cutaneous leiomyoma, Ascites, Polycythemia |
OMIM:606812 |
| Kenny-Caffey Syndrome, Type 2 |
|
Increased bone mineral density, Thickened cortex of long bones, Anemia, Abnormality of the medull... |
OMIM:127000 |
| Wilson Disease |
|
Hepatomegaly, Hemolytic anemia, Edema, Thrombocytopenia, Atypical or prolonged hepatitis, Splenom... |
OMIM:277900 |
| Glucagonoma |
|
Neoplasm of the pancreas, Hepatomegaly, Acanthocytosis, Intrahepatic cholestasis, Pituitary adeno... |
ORPHA:97280 |
| Acrocephalopolydactylous Dysplasia |
|
Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Polysplenia, Ascites, Enlarged kidney |
OMIM:200995 |
| Mitchell-Riley Syndrome |
|
Absent gallbladder, Biliary atresia, Cholestasis, Ascites, Acholic stools, Annular pancreas, Panc... |
OMIM:615710 |
| Senior-Boichis Syndrome |
|
Malformation of the hepatic ductal plate, Portal hypertension, Congenital hepatic fibrosis, Chole... |
ORPHA:84081 |
| Testicular Agenesis |
|
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci... |
ORPHA:325124 |
| Autoimmune Polyendocrinopathy Type 3 |
|
Macrocytic anemia, Antiphospholipid antibody positivity, Autoimmunity, Autoimmune thrombocytopeni... |
ORPHA:227982 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Recurrent Aspergillus infections, Hepatomegaly, Recurrent bacterial skin infections, Liver absces... |
OMIM:233700 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Recurrent Aspergillus infections, Hepatomegaly, Recurrent bacterial skin infections, Liver absces... |
OMIM:233710 |
| Congenital Myopathy 22B, Severe Fetal |
|
Hepatomegaly, Nonimmune hydrops fetalis, Polyhydramnios, Pleural effusion, Ascites |
OMIM:620369 |
| Lymphatic Malformation 13 |
|
Nonimmune hydrops fetalis, Lymphedema, Cavernous hemangioma, Hemangioma, Ascites |
OMIM:620244 |
| Cleidocranial Dysplasia 1 |
|
Increased bone mineral density, Hypoplastic scapulae, Aplastic clavicle, Short middle phalanx of ... |
OMIM:119600 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cardiomegaly, Pericardial effusion, Anasarca, Peripheral edema, Pleural effusion, Ascites, Enlarg... |
OMIM:261740 |
| Werner Syndrome |
|
Increased bone mineral density, Osteoporosis, Joint stiffness |
ORPHA:902 |
| Pseudohypoparathyroidism Type 1B |
|
Increased bone density with cystic changes, Increased bone mineral density, Diaphyseal sclerosis,... |
ORPHA:94089 |
| 46,Xx Sex Reversal 2 |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... |
OMIM:278850 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Recurrent Aspergillus infections, Hepatomegaly, Recurrent bacterial skin infections, Liver absces... |
OMIM:233690 |
| Immunodeficiency 58 |
|
Recurrent cutaneous abscess formation, Helicobacter pylori infection, Recurrent respiratory infec... |
OMIM:618131 |
| Crimean-Congo Hemorrhagic Fever |
|
Hepatomegaly, Acute pancreatitis, Neutrophilia, Pancytopenia, Pericardial effusion, Splenomegaly,... |
ORPHA:99827 |
| Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Hepatomegaly, Hepatocellular carcinoma, Microvesicular hepatic steatosis, Micronodular cirrhosis,... |
OMIM:256810 |
| Pseudohypoparathyroidism Type 1A |
|
Increased bone mineral density, Short metacarpal, Short fifth metatarsal, Broad 1st metacarpal, S... |
ORPHA:79443 |
| Erdheim-Chester Disease |
|
Increased bone mineral density, Osteomyelitis, Osteolysis, Abnormal epiphysis morphology, Abnorma... |
ORPHA:35687 |
| Cutis Laxa, Autosomal Recessive, Type Ic |
|
Accessory spleen, Periorbital edema, Recurrent pneumonia, Hypoplasia of the thymus, Ascites, Righ... |
OMIM:613177 |
| Schimke Immuno-Osseous Dysplasia |
|
Non-Hodgkin lymphoma, Lymphoproliferative disorder, Impaired T cell function, Autoimmunity, Abnor... |
ORPHA:1830 |
| Pseudohypoparathyroidism Type 1C |
|
Increased bone mineral density, Short metacarpal, Short fifth metatarsal, Short metatarsal, Short... |
ORPHA:79444 |
| Congenital Enterovirus Infection |
|
Abnormal macrophage morphology, Fetal ascites, Polyhydramnios, Pericardial effusion, Thrombocytop... |
ORPHA:292 |
| Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Hepatomegaly, Splenomegaly, Micronodular cirrhosis, Ascites, Thrombocytopenia |
OMIM:301072 |
| Lysosomal Acid Lipase Deficiency |
|
Bone-marrow foam cells, Hypersplenism, Microvesicular hepatic steatosis, Jaundice, Vacuolated lym... |
ORPHA:275761 |
| Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Bone marrow hypocellularity, Neutropenia, ... |
ORPHA:101096 |
| Igg4-Related Thyroid Disease |
|
Pancreatic fibrosis, Autoimmunity, Increased circulating IgG4 level, Retroperitoneal fibrosis, An... |
ORPHA:64744 |
| Gaucher Disease Type 3 |
|
Increased bone mineral density, Pancytopenia, Splenomegaly, Osteolysis, Increased susceptibility ... |
ORPHA:77261 |
| Lymphatic Malformation 12 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Fetal ascites, Lymphedema, Recurrent upper and lower r... |
OMIM:620014 |
| Liver Disease, Severe Congenital |
|
Cardiomegaly, Biliary hyperplasia, Sepsis, Leukopenia, Lymphocytosis, Elevated hepatic iron conce... |
OMIM:619991 |
| 12Q14 Microdeletion Syndrome |
|
Clinodactyly of the 5th finger, Abnormality of the spleen, Osteopoikilosis |
ORPHA:94063 |
| Tyrosinemia, Type I |
|
Hepatomegaly, Splenomegaly, Pancreatic islet-cell hyperplasia, Cirrhosis, Hepatocellular carcinom... |
OMIM:276700 |
| Schwartz-Jampel Syndrome |
|
Hip contracture, Abnormally ossified vertebrae, Increased bone mineral density, Bowing of the lon... |
ORPHA:800 |
| Tropical Endomyocardial Fibrosis |
|
Hepatomegaly, Increased circulating interleukin 6 concentration, Eosinophilia, Cardiomegaly, Sple... |
ORPHA:75565 |
| Raine Syndrome |
|
Neonatal death, Arthrogryposis multiplex congenita, Increased bone mineral density, Subperiosteal... |
OMIM:259775 |
| Familial Mediterranean Fever |
|
Splenomegaly, Peritonitis, Pedal edema, Lymphadenopathy, Ascites, Pancreatitis |
ORPHA:342 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Short foot, Small hand, Patchy osteosclerosis, Short palm |
OMIM:241410 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Pancytopenia, Recurrent urinary tract infections, Portal hypertension, Cholestasis, Anasarca, Bil... |
OMIM:613658 |
| Fetal Akinesia Deformation Sequence 1 |
|
Decreased fetal movement, Premature birth, Nonimmune hydrops fetalis, Polyhydramnios, Fetal akine... |
OMIM:208150 |
| Hereditary Orotic Aciduria |
|
Splenomegaly, Recurrent respiratory infections, Anemia, Impaired T cell function |
ORPHA:30 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Polyhydramnios, Microvesicular hepatic steatosis, Jaundice, Cholestasis, Cirrhosis, Ascites |
OMIM:617156 |
| Fraser Syndrome 3 |
|
Ascites, Nonimmune hydrops fetalis, Oligohydramnios |
OMIM:617667 |
| Xfe Progeroid Syndrome |
|
Ascites |
OMIM:610965 |
| Trichothiodystrophy |
|
Osteopenia, Increased bone mineral density, Multiple joint contractures, Craniosynostosis, Increa... |
ORPHA:33364 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Increased circulating interleukin 6 concentration, Increased circulating interferon-gamma concent... |
ORPHA:542323 |
| Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Splenomegaly, Hepatomegaly, Impaired T cell function, Recurrent candida infections |
OMIM:201100 |
| Cutis Marmorata Telangiectatica Congenita |
|
Ascites, Capillary hemangioma |
ORPHA:1556 |
| Lumbar Syndrome |
|
Bifid scrotum, Hypospadias, Spina bifida, Bifid uterus, Cryptorchidism, Myelomeningocele, Hypopla... |
ORPHA:83628 |
| Niemann-Pick Disease Type C |
|
Hepatomegaly, Fetal ascites, Bone-marrow foam cells, Splenomegaly, Jaundice, Hydrops fetalis, Hep... |
ORPHA:646 |
| Gaucher Disease |
|
Osteopenia, Increased bone mineral density, Pancytopenia, Osteomyelitis, Recurrent fractures, Joi... |
ORPHA:355 |
| Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Hepatomegaly, Microvesicular hepatic steatosis, Micronodular cirrhosis, Jaundice, Anasarca, Bile ... |
OMIM:203700 |
| Atresia Of Urethra |
|
Recurrent urinary tract infections, Ascites, Oligohydramnios |
ORPHA:105 |
| Neu-Laxova Syndrome 1 |
|
Decreased fetal movement, Spina bifida, Polyhydramnios, Fetal akinesia sequence, Bifid uterus, Cr... |
OMIM:256520 |
| Igg4-Related Submandibular Gland Disease |
|
Cholangitis, Increased circulating IgG4 level, Eosinophilia, Retroperitoneal fibrosis, Autoimmuni... |
ORPHA:449432 |
| Sanjad-Sakati Syndrome |
|
Short foot, Small hand, Patchy osteosclerosis |
ORPHA:2323 |
| Hyperoxaluria, Primary, Type I |
|
Pathologic fracture, Increased bone mineral density |
OMIM:259900 |
| Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Abnormality of the liver, Ascites, Thrombocytopenia |
ORPHA:464321 |
| Desmosterolosis |
|
Generalized osteosclerosis, Joint contracture of the hand, Arthrogryposis multiplex congenita |
OMIM:602398 |
| Vici Syndrome |
|
Decreased circulating IgG level, Lymphopenia, Recurrent respiratory infections, Recurrent viral i... |
OMIM:242840 |
| Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Recurrent respiratory infections, Leukocytosis, Increased circulating IgE level, Increased circul... |
OMIM:618213 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Hepatomegaly, Recurrent respiratory infections, Portal hypertension, Edema, Polyhydramnios, Conge... |
OMIM:619534 |
| Atypical Werner Syndrome |
|
Sclerosis of hand bone, Increased bone mineral density, Limitation of joint mobility, Osteoporosi... |
ORPHA:79474 |
| Sarcoidosis, Susceptibility To, 1 |
|
Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Abnormality of T cell physiology, Perica... |
OMIM:181000 |
| Niemann-Pick Disease, Type C2 |
|
Hepatomegaly, Fetal ascites, Bone-marrow foam cells, Polyhydramnios, Splenomegaly, Jaundice, Sea-... |
OMIM:607625 |
| Niemann-Pick Disease, Type C1 |
|
Hepatomegaly, Fetal ascites, Bone-marrow foam cells, Splenomegaly, Sea-blue histiocytosis, Prolon... |
OMIM:257220 |
| Eisenmenger Syndrome |
|
Hepatomegaly, Hypochromic microcytic anemia, Pedal edema, Iron deficiency anemia, Abnormality of ... |
ORPHA:97214 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Hemolytic anemia, Increased circulating interleukin 6 concentration, Generalized edema, Edema, Pa... |
ORPHA:544482 |
| Chronic Graft Versus Host Disease |
|
Pancytopenia, Xerostomia, Recurrent infections, Pleural effusion, Ascites |
ORPHA:99921 |
| Schinzel-Giedion Midface Retraction Syndrome |
|
Increased density of long bones, Wide distal femoral metaphysis, Postaxial hand polydactyly, Apla... |
OMIM:269150 |
| Orotic Aciduria |
|
Impaired T cell function, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-resp... |
OMIM:258900 |
| Primary Hyperoxaluria |
|
Generalized osteosclerosis, Recurrent fractures |
ORPHA:416 |
| Sclerosteosis 1 |
|
Facial palsy secondary to cranial hyperostosis, Cortically dense long tubular bones, Sclerotic sc... |
OMIM:269500 |
| Generalized Arterial Calcification Of Infancy |
|
Edema, Cardiomegaly, Polyhydramnios, Pericardial effusion, Hydrops fetalis, Hepatic calcification... |
ORPHA:51608 |
| Williams Syndrome |
|
Osteopenia, Joint laxity, Increased bone mineral density, Joint stiffness, Osteoporosis, Joint hy... |
ORPHA:904 |
| Johanson-Blizzard Syndrome |
|
Hepatomegaly, Generalized edema, Portal hypertension, Intrahepatic cholestasis, Splenomegaly, Ana... |
OMIM:243800 |
| D-Bifunctional Protein Deficiency |
|
Hepatomegaly, Fetal ascites, Polyhydramnios, Splenomegaly, Cholestasis, Bile duct proliferation, ... |
OMIM:261515 |
| Velocardiofacial Syndrome |
|
Impaired T cell function, Recurrent infections |
OMIM:192430 |
| 22Q11.2 Deletion Syndrome |
|
Abnormality of the tonsils, Impaired T cell function, Autoimmunity, Polyhydramnios, Splenomegaly,... |
ORPHA:567 |
| Digeorge Syndrome |
|
Impaired T cell function, Thrombocytopenia, Splenomegaly, Recurrent pneumonia, Recurrent infectio... |
OMIM:188400 |
| Progeroid Short Stature With Pigmented Nevi |
|
Impaired T cell function, Recurrent viral infections |
OMIM:176690 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Abnormality of T cell physiology |
ORPHA:2237 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Hemolytic anemia, Portal hypertension, Fetal ascites, Cholestasis, Hepatosplenomegaly, Joint swel... |
OMIM:619503 |
| Congenital Tracheal Stenosis |
|
Polyhydramnios, Fetal ascites, Oligohydramnios |
ORPHA:141127 |
| Faundes-Banka Syndrome |
|
Fetal ascites |
OMIM:619376 |
