Chondrosarcoma |
|
Chondrosarcoma |
OMIM:215300 |
Chondrosarcoma, Extraskeletal Myxoid |
|
Chondrosarcoma |
OMIM:612237 |
Exostoses, Multiple, Type Iii |
|
Multiple exostoses |
OMIM:600209 |
Exostoses Of Heel |
|
Exostoses |
OMIM:133600 |
Enchondromatosis, Multiple, Ollier Type |
|
Hemangioma, Multiple enchondromatosis, Chondrosarcoma |
OMIM:166000 |
Monoamine Oxidase A Deficiency |
|
Cognitive impairment |
ORPHA:3057 |
Osteogenic Sarcoma |
|
Retinoblastoma, Osteosarcoma |
OMIM:259500 |
Multiple Enchondromatosis, Maffucci Type |
|
Hemangioma, Multiple enchondromatosis, Chondrosarcoma |
OMIM:614569 |
Chordoma, Susceptibility To |
|
Astrocytoma, Chordoma |
OMIM:215400 |
Li-Fraumeni Syndrome |
|
Choriocarcinoma, Acute leukemia, Osteosarcoma, Prostate cancer, Nephroblastoma, Lung adenocarcino... |
OMIM:151623 |
Multiple Fibroadenomas Of The Breast |
|
Fibroadenoma of the breast |
OMIM:615554 |
Cephalin Lipidosis |
|
Abnormality of the spleen |
OMIM:212800 |
Ewing Sarcoma |
|
Ewing sarcoma |
OMIM:612219 |
Myofibromatosis, Infantile, 1 |
|
Myofibromatosis, Fibroma |
OMIM:228550 |
Li-Fraumeni Syndrome |
|
Choriocarcinoma, Colon cancer, Stomach cancer, Melanoma, Hodgkin lymphoma, Acute myeloid leukemia... |
ORPHA:524 |
Autoimmune Disease |
|
Autoimmunity, Autoimmune antibody positivity |
OMIM:109100 |
Tuftsin Deficiency |
|
Abnormality of the spleen |
OMIM:191150 |
Oslam Syndrome |
|
Neoplasm, Osteosarcoma |
OMIM:165660 |
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Abnormal lymph node morphology |
OMIM:136580 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency |
|
Lymphadenopathy |
ORPHA:319600 |
Sarcoma, Synovial |
|
Synovial sarcoma |
OMIM:300813 |
Alveolar Soft Part Sarcoma |
|
Alveolar soft part sarcoma |
OMIM:606243 |
Reticulum Cell Sarcoma |
|
Sarcoma, Neoplasm |
OMIM:267730 |
Pemphigus Vulgaris, Familial |
|
Autoimmunity, Autoimmune antibody positivity |
OMIM:169610 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Abnormality of the liver, Absence of lymph node germinal center |
OMIM:235550 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Axillary lymphadenopathy, Inguinal lymphadenopathy, Lymphadenopathy |
OMIM:616126 |
Squamous Cell Carcinoma Of The Esophagus |
|
Lymphadenopathy |
ORPHA:99977 |
Complement Component 4, Partial Deficiency Of |
|
Systemic lupus erythematosus |
OMIM:120790 |
Reticuloendotheliosis, X-Linked |
|
Anemia, Jaundice, Hepatosplenomegaly, Lymphadenopathy |
OMIM:312500 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Hepatomegaly, Splenomegaly |
ORPHA:2274 |
Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Osteosarcoma |
OMIM:260500 |
Pulmonary Nodular Lymphoid Hyperplasia |
|
Mediastinal lymphadenopathy, Follicular hyperplasia, Plasmacytosis |
ORPHA:60026 |
Mantle Cell Lymphoma |
|
Splenomegaly, Lymphadenopathy |
ORPHA:52416 |
Tumor Predisposition Syndrome 4 |
|
Glioma, Meningioma, Stomach cancer, Sarcoma, Breast carcinoma |
OMIM:609265 |
Oslam Syndrome |
|
Osteosarcoma |
ORPHA:2760 |
Paget Disease Of Bone 3 |
|
Osteosarcoma |
OMIM:167250 |
Exostoses, Multiple, Type Ii |
|
Rib exostoses, Scapular exostoses, Pelvic bone exostoses, Multiple exostoses, Chondrosarcoma |
OMIM:133701 |
Exostoses, Multiple, Type I |
|
Rib exostoses, Scapular exostoses, Pelvic bone exostoses, Multiple exostoses, Chondrosarcoma |
OMIM:133700 |
Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
Tn Polyagglutination Syndrome |
|
Autoimmunity |
OMIM:300622 |
Immunodeficiency 75 With Lymphoproliferation |
|
Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Follicular hyperplasia... |
OMIM:619126 |
Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia |
OMIM:162830 |
Premature Aging Syndrome, Okamoto Type |
|
Neoplasm, Osteosarcoma |
OMIM:601811 |
Systemic Lupus Erythematosus 16 |
|
Anti-dsDNA antibody positivity, Perinuclear antineutrophil antibody positivity, Antinuclear antib... |
OMIM:614420 |
Kerion Celsi |
|
Lymphadenopathy |
ORPHA:499 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent bacterial infections, Recurrent viral infections, Recurrent protozoan infections |
OMIM:308220 |
Exostoses-Anetodermia-Brachydactyly Type E Syndrome |
|
Aplasia/Hypoplasia of the skin, Dermal atrophy, Macule |
ORPHA:1962 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Splenomegaly |
OMIM:619813 |
Hashimoto Thyroiditis |
|
Hashimoto thyroiditis, Autoimmune antibody positivity |
OMIM:140300 |
Melanoma-Pancreatic Cancer Syndrome |
|
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Melanoma, Squamous cell carcino... |
OMIM:606719 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hepatitis, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Autoimmune th... |
ORPHA:444463 |
Aplasia Cutis Congenita Of Limbs, Autosomal Recessive |
|
Congenital absence of skin of limbs, Aplasia cutis congenita |
OMIM:600360 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:85275 |
Immunodeficiency 104 |
|
Hepatomegaly, T lymphocytopenia, Splenomegaly, Lymphadenopathy |
OMIM:608971 |
Adenocarcinoma Of The Esophagus |
|
Lymphadenopathy |
ORPHA:99976 |
Retinoblastoma |
|
Pinealoma, Lymphoma, Ewing sarcoma, Retinoblastoma, Leukemia, Osteosarcoma |
OMIM:180200 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Decreased helper T cell proportion, Pancytopenia, Splenomegaly, Hypersplenism |
OMIM:183350 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly |
OMIM:618852 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Anemia, Hepatomegaly, Splenomegaly, Persistence of hemoglobin F |
ORPHA:46532 |
Follicular Lymphoma |
|
Splenomegaly, Lymphadenopathy, Abnormal peritoneum morphology, Skin nodule, Mediastinal lymphaden... |
ORPHA:545 |
Hemoglobin H Disease |
|
HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia |
OMIM:613978 |
Oncogenic Osteomalacia |
|
Neurofibroma, Neoplasm of head and neck, Neoplasm of the skeletal system, Giant cell tumor of bon... |
ORPHA:352540 |
Autosomal Recessive Spastic Paraplegia Type 71 |
|
Abnormal myelination |
ORPHA:401840 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... |
ORPHA:70592 |
Rosaï-Dorfman Disease |
|
Anemia, Subcutaneous nodule, Papule, Lymphadenopathy |
ORPHA:158014 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Recurrent pancreatitis, Splenomegaly |
OMIM:118830 |
Microphthalmia, Isolated 1 |
|
Anophthalmia, Microphthalmia |
OMIM:251600 |
Rhabdomyosarcoma, Embryonal, 1 |
|
Embryonal rhabdomyosarcoma |
OMIM:268210 |
Polyposis, Intestinal, With Multiple Exostoses |
|
Multiple exostoses, Intestinal polyposis |
OMIM:175450 |
Rhabdomyosarcoma 2 |
|
Alveolar rhabdomyosarcoma |
OMIM:268220 |
Mast Cell Sarcoma |
|
Mastocytosis, Splenomegaly, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy |
ORPHA:66661 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia |
OMIM:206400 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Splenomegaly, Hepatic steatosis, Polycystic ovaries, Xanthomatosis, Aplasia/Hypoplasia of the ski... |
ORPHA:2348 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hepatomegaly, Splenomegaly |
OMIM:619175 |
Microphthalmia/Coloboma 10 |
|
Anophthalmia, Microphthalmia |
OMIM:616428 |
Progressive Multifocal Leukoencephalopathy |
|
Abnormal astrocyte morphology, CNS demyelination, Abnormal oligodendroglia morphology |
ORPHA:217260 |
Microphthalmia/Coloboma 5 |
|
Anophthalmia, Bilateral microphthalmos, Microphthalmia |
OMIM:611638 |
Oculocerebrocutaneous Syndrome |
|
Anophthalmia, Focal dermal aplasia/hypoplasia, Cryptorchidism, Microphthalmia |
OMIM:164180 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:86893 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Hepatomegaly, Lymphocytosis, Splenomegaly |
OMIM:606445 |
Pparg-Related Familial Partial Lipodystrophy |
|
Splenomegaly, Hepatic steatosis, Polycystic ovaries, Xanthomatosis, Aplasia/Hypoplasia of the ski... |
ORPHA:79083 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocytosis, S... |
OMIM:612840 |
Immunodeficiency 16 |
|
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly |
OMIM:615593 |
Congenital Toxoplasmosis |
|
Ascites, Cardiomegaly, Hepatomegaly, Jaundice, Macule, Thrombocytopenia, Microphthalmia, Anemia, ... |
ORPHA:858 |
Kimura Disease |
|
Eosinophilia, Abnormal salivary gland morphology, Follicular hyperplasia, Lymphadenopathy |
ORPHA:482 |
Hemoglobin D Disease |
|
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... |
ORPHA:90039 |
Immunodeficiency 76 |
|
Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia |
OMIM:619164 |
Classic Mycosis Fungoides |
|
Skin ulcer, Hypopigmented skin patches, Abnormal lymphocyte morphology, Splenomegaly, Hepatomegal... |
ORPHA:2584 |
C1Q Deficiency 1 |
|
Autoimmunity, Systemic lupus erythematosus |
OMIM:613652 |
Alpha-Heavy Chain Disease |
|
Ascites, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia |
ORPHA:100025 |
Schnitzler Syndrome |
|
Leukocytosis, Splenomegaly, Hepatomegaly, Macule, Lymphadenopathy, Anemia, Papule |
ORPHA:37748 |
Lymphoproliferative Syndrome 3 |
|
Reduced natural killer cell count, Hepatosplenomegaly, Lymphadenopathy |
OMIM:618261 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat... |
OMIM:603902 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Fluctuating splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia in presence o... |
OMIM:619220 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin |
ORPHA:231393 |
Absence Of Fingerprints-Congenital Milia Syndrome |
|
Milia, Thin skin |
ORPHA:1658 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Fibrosarcoma, Osteosarcoma, Histiocytoma |
OMIM:112250 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Decreased proportion of class-switched memory B cells, Increased proportion of tran... |
OMIM:615513 |
Encephalopathy Due To Prosaposin Deficiency |
|
Hepatomegaly, Splenomegaly |
ORPHA:139406 |
Mycosis Fungoides |
|
Skin plaque, Psoriasiform dermatitis, Lymphadenopathy |
OMIM:254400 |
Erythroleukemia, Familial, Susceptibility To |
|
Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen... |
OMIM:133180 |
Dermoodontodysplasia |
|
Thin skin |
OMIM:125640 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hemophagocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Neutropenia, Thrombocytopenia, Ane... |
OMIM:603552 |
Mu-Heavy Chain Disease |
|
Abnormal B cell count, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia |
ORPHA:100024 |
Maffucci Syndrome |
|
Pituitary adenoma, Chondrosarcoma, Neoplasm of the parathyroid gland, Breast carcinoma, Astrocyto... |
ORPHA:163634 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Abnormally low T cell receptor excision circle level, Erythematous papule, Lymphopenia, Lymph nod... |
OMIM:602450 |
Pelizaeus-Merzbacher Disease |
|
CNS hypomyelination, Sudanophilic leukodystrophy, Reduction of oligodendroglia, Abnormal CNS myel... |
OMIM:312080 |
Burkitt Lymphoma |
|
Abnormal lymph node morphology, Abnormality of the ovary, Abnormality of the spleen, Abnormality ... |
ORPHA:543 |
Microphthalmia, Syndromic 12 |
|
Cryptorchidism, Anophthalmia, Microphthalmia |
OMIM:615524 |
Deafness, Autosomal Dominant 34, With Or Without Inflammation |
|
Lymphadenopathy |
OMIM:617772 |
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Nodular goiter, Chronic noninfectious lymphadenopathy, Goiter, Abnormal lymph node morphology |
ORPHA:97290 |
Immunodeficiency 42 |
|
Hepatomegaly, Hypoplasia of the thymus, Splenomegaly |
OMIM:616622 |
Hyperbilirubinemia, Shunt, Primary |
|
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Hepatomega... |
OMIM:237800 |
Acrogeria |
|
Aplasia/Hypoplasia of the skin, Skin ulcer, Thin skin |
ORPHA:2500 |
Familial Papillary Or Follicular Thyroid Carcinoma |
|
Nodular goiter, Chronic noninfectious lymphadenopathy, Goiter, Abnormal lymph node morphology |
ORPHA:319487 |
Matthew-Wood Syndrome |
|
Annular pancreas, Anophthalmia, Cryptorchidism, Abnormal spleen morphology, Microphthalmia, Aplas... |
ORPHA:2470 |
Retinoblastoma |
|
Pineoblastoma, Glioma, Lymphoma, Ewing sarcoma, Retinoblastoma, Melanoma, Leiomyosarcoma, Leukemi... |
ORPHA:790 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231242 |
Prolidase Deficiency |
|
Skin ulcer, Splenomegaly, Aplasia/Hypoplasia of the skin, Hepatomegaly, Papule, Thin skin |
ORPHA:742 |
Pleuropulmonary Blastoma |
|
Rhabdomyosarcoma, Pleuropulmonary blastoma, Medulloblastoma |
OMIM:601200 |
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality |
|
Striae distensae, Atypical scarring of skin, Thin skin |
OMIM:225310 |
Immunodeficiency 52 |
|
Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell count, Decreased propor... |
OMIM:617514 |
Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Hepatomegaly, Fetal ascites, Splenomegaly |
OMIM:619462 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hepatic fibrosis, Lymphadenitis, Cholestasis, Leukocytosis, Splenomegaly, Hepatomegaly, Lymphaden... |
OMIM:615895 |
Trimethylaminuria |
|
Anemia, Splenomegaly, Neutropenia |
OMIM:602079 |
Leishmaniasis |
|
Skin ulcer, Pancytopenia, Leukopenia, Abnormal macrophage morphology, Splenomegaly, Hepatomegaly,... |
ORPHA:507 |
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
|
Aplasia/Hypoplasia of the skin, Skin ulcer, Thin skin |
ORPHA:743 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Increased B cell count, Hepatosplenomegaly, Lymphadenopathy, Increased proportion of memory T cells |
OMIM:618982 |
Tyrosinemia Type 1 |
|
Hepatomegaly, Splenomegaly, Hepatocellular carcinoma |
ORPHA:882 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Follicular hyperplasia, Decrea... |
OMIM:619846 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abnormal CD4:CD8 ratio, Splenomegaly, Lymphadenopathy, Neutropenia, B lymphocytopenia, Pyoderma g... |
OMIM:150550 |
Developmental And Epileptic Encephalopathy 71 |
|
CNS demyelination, Gliosis |
OMIM:618328 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... |
OMIM:615559 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, Decreased proportio... |
OMIM:300853 |
Nut Midline Carcinoma |
|
Ewing sarcoma, Neoplasm, Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell ... |
ORPHA:443167 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Pancytopenia, Splenomegaly, Follicular hyperplasia, Hepatomegaly, Lymphocytosis, Neutropenia, Mon... |
OMIM:614470 |
Familial Cervical Artery Dissection |
|
Striae distensae, Thin skin |
ORPHA:36382 |
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency |
|
Aplasia/Hypoplasia of the skin, Thin skin |
ORPHA:745 |
Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Reticulocytosis, Intermittent jaundice |
OMIM:179700 |
Ceroid storage disease |
|
Abnormality of the spleen |
OMIM:214200 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Anemia |
OMIM:613101 |
Immunodeficiency 84 |
|
Splenomegaly, B lymphocytopenia |
OMIM:619437 |
X-Linked Ehlers-Danlos Syndrome |
|
Thin skin |
ORPHA:75497 |
Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Cervica... |
OMIM:618534 |
Pfapa Syndrome |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:42642 |
Immunodeficiency 105 |
|
Reduced natural killer cell count, Absence of lymph node germinal center, Lymphopenia, Pancytopen... |
OMIM:619924 |
Hypereosinophilic Syndrome, Idiopathic |
|
Hepatomegaly, Eosinophilia, Myeloproliferative disorder, Splenomegaly |
OMIM:607685 |
Complex Regional Pain Syndrome |
|
Dysesthesia, Trophic changes related to pain, Somatic sensory dysfunction, Allodynia |
ORPHA:83452 |
Immunodeficiency 32A |
|
Lymphadenitis, Lymphadenopathy |
OMIM:614893 |
Kaposi Sarcoma |
|
Papule, Hypermelanotic macule, Abnormality of the spleen, Abnormality of the liver, Generalized l... |
ORPHA:33276 |
Sea-Blue Histiocyte Disease |
|
Cirrhosis, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis |
OMIM:269600 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatomegaly, Hepatic fibrosis, Hepatic steatosis, Splenomegaly |
OMIM:614480 |
Exostoses With Anetodermia And Brachydactyly, Type E |
|
Dermal atrophy |
OMIM:133690 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Hepatomegaly, Thrombocytopenia, Neutropen... |
OMIM:615285 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Hypereosinophilia, Abnormal B cell count, Abnormal proportion of CD8-positive T cells, Abnormal p... |
OMIM:212050 |
Neonatal Severe Primary Hyperparathyroidism |
|
Hepatomegaly, Splenomegaly |
ORPHA:417 |
Immunodeficiency 27A |
|
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombocytosis, Anemia, Enlarged... |
OMIM:209950 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:610293 |
Ollier Disease |
|
Neoplasm, Hemangioma, Sarcoma, Multiple enchondromatosis, Visceral angiomatosis, Chondrosarcoma |
ORPHA:296 |
Galactose Epimerase Deficiency |
|
Hepatomegaly, Jaundice, Splenomegaly |
ORPHA:79238 |
Localized Dystrophic Epidermolysis Bullosa, Acral Form |
|
Dermal atrophy, Milia, Erythematous plaque, Thin skin |
ORPHA:158673 |
Fetal Encasement Syndrome |
|
Thin skin |
OMIM:613630 |
Sea-Blue Histiocytosis |
|
Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia, Hepatomegaly, Subcutaneous nodule, Medias... |
ORPHA:158029 |
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Atypical scarring of skin, Atrophic scars, Cryptorchidism, Testicular torsion, Thin skin |
ORPHA:75496 |
Dermoodontodysplasia |
|
Melanocytic nevus, Thin skin |
ORPHA:1660 |
Fish-Eye Disease |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:79292 |
Werner Syndrome |
|
Meningioma, Osteosarcoma |
OMIM:277700 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Lymphadenopathy |
OMIM:608106 |
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts |
|
Thin skin |
OMIM:259410 |
Wolman Disease |
|
Hepatomegaly, Splenomegaly |
OMIM:620151 |
Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Thin skin, Skin dimple |
ORPHA:261304 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
|
Abnormally low T cell receptor excision circle level, Cervical lymphadenopathy, B lymphocytopenia |
OMIM:618987 |
Granulomatous Slack Skin |
|
Abnormal lymph node morphology |
ORPHA:33111 |
Autosomal Recessive Spastic Paraplegia Type 70 |
|
Abnormal myelination |
ORPHA:401835 |
Splenoportal Vascular Anomalies |
|
Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis, Anomalous splenoportal venous system |
OMIM:271500 |
Laryngeal Neuroendocrine Tumor |
|
Adrenocorticotropic hormone excess, Chronic noninfectious lymphadenopathy |
ORPHA:100083 |
Portal Hypertension, Noncirrhotic, 1 |
|
Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:617068 |
Porokeratosis Of Mibelli |
|
Aplasia/Hypoplasia of the skin |
ORPHA:735 |
Indolent Systemic Mastocytosis |
|
Mastocytosis, Increased proportion of CD25+ mast cells, Splenomegaly, Lymphadenopathy, Hepatomega... |
ORPHA:98848 |
Immunodeficiency 69 |
|
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Thrombocytosis, A... |
OMIM:618963 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... |
ORPHA:251380 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Splenomegaly, Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic an... |
OMIM:619375 |
Silver-Russell Syndrome 2 |
|
Thin skin |
OMIM:618905 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Decreased CD4:CD8 ratio, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly |
OMIM:618495 |
Galactosemia Iii |
|
Hepatomegaly, Jaundice, Splenomegaly |
OMIM:230350 |
Immunodeficiency 109 With Lymphoproliferation |
|
Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Absent circulating B cells |
OMIM:620282 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Absence of lymph node germinal center, Neutropenia |
OMIM:606843 |
Osteopetrosis, Autosomal Recessive 8 |
|
Unilateral microphthalmos, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia |
OMIM:615085 |
Xp22.3 Microdeletion Syndrome |
|
Aplasia/Hypoplasia of the skin, Aplasia/Hypoplasia affecting the eye, Sacral dimple, Polycystic o... |
ORPHA:1643 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice |
OMIM:224100 |
Pseudoprogeria Syndrome |
|
Thin skin |
ORPHA:2985 |
Ehlers-Danlos Syndrome, Cardiac Valvular Type |
|
Atrophic scars, Thin skin |
OMIM:225320 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Autoimmune thrombocytopenia, Absence of lymph node germinal center, Autoimmune hemolytic anemia |
OMIM:608184 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Lymphadenopathy |
OMIM:605258 |
Immunodeficiency, Common Variable, 2 |
|
Abnormal T cell count, Splenomegaly, Follicular hyperplasia, Lymphadenopathy, Hepatomegaly |
OMIM:240500 |
Ghosal Hematodiaphyseal Dysplasia |
|
Anemia, Splenomegaly |
ORPHA:1802 |
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Thin skin |
ORPHA:157965 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Increased B cell count, Splenomegaly |
OMIM:616452 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Cholestasis, Hepatomegaly, Jaundice, Splenomegaly |
OMIM:620010 |
Gray Platelet Syndrome |
|
Splenomegaly, Thrombocytopenia |
ORPHA:721 |
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia |
|
Thin skin |
ORPHA:1810 |
Meige Disease |
|
Atypical scarring of skin, Skin erosion, Skin ulcer, Absence of lymph node germinal center, Lymph... |
ORPHA:90186 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Splenomegaly, Leukocytosis, Lymphadenopathy |
OMIM:611762 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Webbed neck, Cigarette-paper scars, Thin skin |
OMIM:612350 |
Meckel Syndrome, Type 8 |
|
Anophthalmia, Enlarged kidney, Microphthalmia |
OMIM:613885 |
Immunodeficiency 7 |
|
Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia, Hepat... |
OMIM:615387 |
Caspase 8 Deficiency |
|
Decreased CD4:CD8 ratio, Splenomegaly, Lymphadenopathy |
OMIM:607271 |
Congenital Heart Defects And Ectodermal Dysplasia |
|
Thin skin |
OMIM:617364 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Striae distensae, Macronodular adrenal hyperplasia, Adrenal hyperplasia, Thin skin |
OMIM:219080 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Striae distensae, Pancreatitis, Ovarian cyst, Thin skin |
OMIM:610475 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Splenomegaly, Hepatic steatosis, Polycystic ovaries, Xanthomatosis, Aplasia/Hypoplasia of the ski... |
ORPHA:280365 |
Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Atrophic scars, Milia, Scarring alopecia of scalp, Aplasia cutis congenita, Anemia |
ORPHA:79402 |
Immunodeficiency 54 |
|
Reduced natural killer cell count, Splenomegaly, Adrenocorticotropic hormone excess, Lymphadenopa... |
OMIM:609981 |
Lymphoproliferative Syndrome 2 |
|
Aplastic anemia, Hemophagocytosis, Ascites, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Lymph... |
OMIM:615122 |
Arthrochalasia Ehlers-Danlos Syndrome |
|
Thin skin |
ORPHA:1899 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hypersplenism, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia |
OMIM:610539 |
Cold Agglutinin Disease |
|
Hepatomegaly, Hemolytic anemia, Splenomegaly, Lymphadenopathy |
ORPHA:56425 |
Fryns Microphthalmia Syndrome |
|
Anophthalmia, Microphthalmia |
OMIM:600776 |
Microphthalmia, Syndromic 16 |
|
Anophthalmia, Microphthalmia |
OMIM:611038 |
Proteus Syndrome |
|
Lymphangioma, Splenomegaly, Epidermal nevus, Nevus |
OMIM:176920 |
Autosomal Recessive Spastic Paraplegia Type 57 |
|
Abnormal myelination |
ORPHA:431329 |
Autosomal Recessive Spastic Paraplegia Type 69 |
|
Abnormal myelination |
ORPHA:401830 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos... |
OMIM:615631 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Neonatal cholestatic liver disease, Splenomegaly, Biliary tract abnormality, Cirrhosis, Hepatomeg... |
ORPHA:79301 |
Diamond-Blackfan Anemia 21 |
|
Osteosarcoma |
OMIM:620072 |
Progressive Familial Intrahepatic Cholestasis |
|
Cholestasis, Hepatomegaly, Jaundice, Splenomegaly |
ORPHA:172 |
Baller-Gerold Syndrome |
|
Lymphoma, Osteosarcoma |
ORPHA:1225 |
Immunodeficiency, Common Variable, 1 |
|
Abnormal T cell count, Splenomegaly, Decreased proportion of class-switched memory B cells, Lymph... |
OMIM:607594 |
Boutonneuse Fever |
|
Cervical lymphadenopathy, Leukopenia, Macule, Lymphadenopathy, Thrombocytopenia, Skin nodule, Ski... |
ORPHA:83313 |
Fibrous Dysplasia Of Bone |
|
Thyroid carcinoma, Cutaneous myxoma, Testicular neoplasm, Neoplasm of the breast, Osteosarcoma |
ORPHA:249 |
Trisomy 13 |
|
Preauricular skin tag, Preauricular pit, Cryptorchidism, Anophthalmia, Aplasia/Hypoplasia of the ... |
ORPHA:3378 |
Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Bone-marrow foam cells |
OMIM:607616 |
Griscelli Syndrome Type 2 |
|
Hemophagocytosis, Pancytopenia, Splenomegaly, Lymphadenopathy, Neutropenia, Hepatomegaly, Jaundice |
ORPHA:79477 |
Pseudomyxoma Peritonei |
|
Ascites, Lymphadenopathy, Abnormal peritoneum morphology |
ORPHA:26790 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia |
ORPHA:231401 |
Rothmund-Thomson Syndrome Type 1 |
|
Neoplasm of the skin, Basal cell carcinoma, Melanoma, Squamous cell carcinoma, Leukemia, Myelodys... |
ORPHA:221008 |
Autosomal Recessive Spastic Paraplegia Type 67 |
|
Abnormal myelination |
ORPHA:401820 |
Immunodeficiency 48 |
|
Abnormal B cell count, Splenomegaly, Impaired lymphocyte transformation with phytohemagglutinin, ... |
OMIM:269840 |
Erythrocytosis, Familial, 8 |
|
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... |
OMIM:222800 |
Rothmund-Thomson Syndrome Type 2 |
|
Neoplasm of the skin, Basal cell carcinoma, Lymphoma, Melanoma, Squamous cell carcinoma, Leukemia... |
ORPHA:221016 |
Classic Hodgkin Lymphoma |
|
Hepatomegaly, Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly |
ORPHA:391 |
Hemoglobin E Disease |
|
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... |
ORPHA:2133 |
Activated Pi3K-Delta Syndrome |
|
Recurrent tonsillitis, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Hepatomegaly |
ORPHA:397596 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Neutrophilia, Abnormal lymph node morphology, Abnormality of the lymphatic system, Abnormal testi... |
ORPHA:54251 |
Tularemia |
|
Localized skin lesion, Cervical lymphadenopathy, Abnormal nasopharyngeal adenoid morphology, Leuk... |
ORPHA:3392 |
Immunodeficiency 27B |
|
Generalized lymphadenopathy |
OMIM:615978 |
Nodular Non-Suppurative Panniculitis |
|
Hepatomegaly, Aplasia/Hypoplasia of the skin, Subcutaneous nodule, Splenomegaly |
ORPHA:33577 |
Cutaneous Neuroendocrine Carcinoma |
|
Erythematous plaque, Chronic noninfectious lymphadenopathy, Skin nodule, Lymphoid leukemia, Eryth... |
ORPHA:79140 |
Microphthalmia, Isolated 8 |
|
True anophthalmia, Optic nerve hypoplasia, Anophthalmia, Microphthalmia |
OMIM:615113 |
Autoimmune Lymphoproliferative Syndrome |
|
Chronic noninfectious lymphadenopathy, Follicular hyperplasia, Autoimmune hemolytic anemia, Splen... |
OMIM:601859 |
Pleural Mesothelioma |
|
Hepatomegaly, Lymphadenopathy |
ORPHA:50251 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Splenomegaly, Jaundice |
OMIM:619658 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Anophthalmia |
ORPHA:411986 |
Joint Contractures, Osteochondromas, And B-Cell Lymphoma |
|
B-cell lymphoma, Burkitt lymphoma, Osteochondroma |
OMIM:620232 |
Isolated Anencephaly |
|
Thymus hyperplasia |
ORPHA:563609 |
Thrombocythemia 1 |
|
Splenomegaly, Thrombocytosis |
OMIM:187950 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Absence of lymph node germinal center, Lymphopenia, B lymphocytopenia, Absent tonsils, T lymphocy... |
ORPHA:277 |
Griscelli Syndrome |
|
Bone marrow hypocellularity, Hypopigmented skin patches, Hepatitis, Ascites, Leukopenia, Splenome... |
ORPHA:381 |
Periventricular Nodular Heterotopia |
|
Thin skin |
ORPHA:98892 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatosplenomegaly, Erythroid hyperplasia, Splenomegaly, Anisocytosis, Hepatomegaly, Cirrhosis, H... |
OMIM:616860 |
Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Atrophic scars, Milia, Dermal atrophy, Skin plaque, Subcutaneous nodule, Papule |
ORPHA:89843 |
Niemann-Pick Disease, Type A |
|
Sea-blue histiocytosis, Microcytic anemia, Ascites, Splenomegaly, Xanthomatosis, Hepatomegaly, Ly... |
OMIM:257200 |
Hemochromatosis, Type 2B |
|
Hepatic fibrosis, Splenomegaly, Hepatomegaly, Cirrhosis, Anemia |
OMIM:613313 |
Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Cryptorchidism, Thin skin |
OMIM:219150 |
Cockayne Syndrome Type 2 |
|
Hepatomegaly, Hypermelanotic macule, Cryptorchidism, Anophthalmia |
ORPHA:90322 |
Aicardi-Goutieres Syndrome 6 |
|
Hepatomegaly, Hemolytic anemia, Splenomegaly, Thrombocytopenia |
OMIM:615010 |
Primary Myelofibrosis |
|
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm... |
ORPHA:824 |
Anencephaly 2 |
|
Anophthalmia |
OMIM:619452 |
Nephroblastoma |
|
Aniridia, Lymphadenopathy, Neoplasm of the liver |
ORPHA:654 |
Rhabdoid Tumor |
|
Neoplasm of the liver, Lymphadenopathy, Thrombocytopenia, Anemia, Subcutaneous nodule |
ORPHA:69077 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Sideroblastic anemia, Splenomegaly, Hepatomegaly, Hypochromia, Poikilocytosis, Anemia, Elevated h... |
OMIM:615234 |
Spherocytosis, Type 5 |
|
Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ... |
OMIM:612690 |
Cholestasis-Lymphedema Syndrome |
|
Neonatal cholestatic liver disease, Splenomegaly, Cirrhosis, Hepatomegaly, Jaundice |
OMIM:214900 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal B cell count, Sp... |
OMIM:308240 |
Ataxia-Pancytopenia Syndrome |
|
Acute myelomonocytic leukemia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Hypopl... |
ORPHA:2585 |
Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Thin skin |
ORPHA:230839 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Chronic noninfectious lymphadenopathy, Follicular hyperplasia, Autoimmune hemolytic anemia, Splen... |
OMIM:603909 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol... |
ORPHA:766 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Portal fibrosis, Splenomegaly, Acholic stools, Hepatomegaly, Jaundice |
OMIM:619868 |
Self-Improving Dystrophic Epidermolysis Bullosa |
|
Milia, Atrophic scars, Skin erosion, Aplasia cutis congenita |
ORPHA:79411 |
19Q13.11 Microdeletion Syndrome |
|
Supernumerary nipple, Aplasia cutis congenita, Cryptorchidism, Thin skin |
ORPHA:217346 |
Desmoplastic Small Round Cell Tumor |
|
Ascites, Hepatomegaly, Lymphadenopathy, Testicular neoplasm, Abnormal peritoneum morphology, Anem... |
ORPHA:83469 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombo... |
ORPHA:3226 |
Trigeminal Neuralgia |
|
Paresthesia, Somatic sensory dysfunction, Allodynia |
ORPHA:221091 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Hepatomegaly, Splenomegaly |
ORPHA:2204 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ... |
ORPHA:75564 |
Gaucher Disease Type 2 |
|
Hepatomegaly, Splenomegaly |
ORPHA:77260 |
Atrophoderma Vermiculata |
|
Hyperkeratotic papule, Hypoplastic pilosebaceous units, Atrophic scars, Periauricular skin pits, ... |
ORPHA:79100 |
Rothmund-Thomson Syndrome, Type 2 |
|
Basal cell carcinoma, Squamous cell carcinoma, Osteosarcoma |
OMIM:268400 |
Squamous Cell Carcinoma Of The Anal Canal |
|
Neoplasm of the liver, Skin ulcer, Lymphadenopathy |
ORPHA:424019 |
Hypotrichosis-Lymphedema-Telangiectasia Syndrome |
|
Abnormal sweat gland morphology, Hydrocele testis, Thin skin |
OMIM:607823 |
Beta-Thalassemia |
|
Cholelithiasis, Skin ulcer, Hepatitis, Microcytic anemia, Abnormal hemoglobin, Splenomegaly, Hepa... |
ORPHA:848 |
X-Linked Sideroblastic Anemia |
|
Anemia, Splenomegaly |
ORPHA:75563 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Lymphopenia, Psoriasiform dermatitis, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy,... |
OMIM:616100 |
Lymphoproliferative Syndrome 1 |
|
Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, ... |
OMIM:613011 |
Alpha-1-Antitrypsin Deficiency |
|
Cirrhosis, Splenomegaly, Hepatocellular carcinoma |
OMIM:613490 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatic bridging fibrosis, Hepatomegaly, Splenomegaly, Hepatic fibrosis |
OMIM:616719 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Cholestasis, Portal hypertension, Splenomegaly, Scarring alopecia of scalp, Hepatomegaly, Jaundice |
ORPHA:59303 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Cholestatic liver disease, Hepatosplenomegaly, Splenomegaly, Prolonged neonatal jaundice, Cirrhos... |
OMIM:616828 |
Immune Dysregulation, Autoimmunity, And Autoinflammation |
|
Cervical lymphadenopathy, Inguinal lymphadenopathy, Anemia |
OMIM:620514 |
Ataxia-Telangiectasia |
|
Aplasia/Hypoplasia of the thymus, Lymphopenia, Polycystic ovaries, Aplasia/Hypoplasia of the skin... |
ORPHA:100 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta... |
OMIM:619849 |
Farber Lipogranulomatosis |
|
Splenomegaly, Periarticular subcutaneous nodules, Lipogranulomatosis, Hepatomegaly, Subcutaneous ... |
OMIM:228000 |
Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
Anterior Cutaneous Nerve Entrapment Syndrome |
|
Hyperesthesia, Allodynia, Somatic sensory dysfunction, Impaired tactile sensation |
ORPHA:51890 |
Heme Oxygenase 1 Deficiency |
|
Cervical lymphadenopathy, Coombs-positive hemolytic anemia, Lymphadenopathy, Thrombocytosis, Hepa... |
OMIM:614034 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Bone marrow hypocellularity, Hemophagocytosis, Agranulocytosis, Autoimmune hemolytic anemia, Sple... |
OMIM:301078 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatic fibrosis, Portal fibrosis, Portal hypertension, Splenomegaly, Iron deficiency anemia, Hep... |
OMIM:616278 |
Omenn Syndrome |
|
Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Hepatomegaly, Lymphadenopathy, Thro... |
OMIM:603554 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Decreased proportion of memory B cells, Lymphadenopathy, Thrombocytopenia, B lymphocytopenia, Sub... |
OMIM:618048 |
Cinca Syndrome |
|
Hepatosplenomegaly, Leukocytosis, Eosinophilia, Lymphadenopathy, Anemia |
OMIM:607115 |
Glut1 Deficiency Syndrome 2 |
|
Splenomegaly, Hemolytic anemia, Reticulocytosis |
OMIM:612126 |
Amyloidosis, Hereditary Systemic 2 |
|
Cholestasis, Hepatomegaly, Splenomegaly |
OMIM:105200 |
Nephronophthisis 19 |
|
Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Splenomegaly, Hepatomega... |
OMIM:616217 |
Cholestasis-Lymphedema Syndrome |
|
Portal hypertension, Splenomegaly, Neonatal cholestatic liver disease, Biliary tract abnormality,... |
ORPHA:1414 |
Adams-Oliver Syndrome 4 |
|
Aplasia cutis congenita, Microphthalmia |
OMIM:615297 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,... |
OMIM:314050 |
Aicardi-Goutieres Syndrome 4 |
|
Hepatosplenomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia, Hepatomegaly |
OMIM:610333 |
Osteopetrosis, Autosomal Dominant 3 |
|
Anemia, Hyperparathyroidism, Splenomegaly, Hepatomegaly |
OMIM:618107 |
Diffuse Cutaneous Mastocytosis |
|
Skin erosion, Abnormality of the spleen, Abnormality of the liver, Lymphocytosis, Lymphadenopathy... |
ORPHA:79456 |
Short Syndrome |
|
Rieger anomaly, Ovarian cyst, Thin skin |
OMIM:269880 |
Gamma-Heavy Chain Disease |
|
Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, Hepatomegaly, Lymphade... |
ORPHA:100026 |
Proteus-Like Syndrome |
|
Thymus hyperplasia, Abnormality of the parathyroid gland, Splenomegaly, Polycystic ovaries, Epide... |
ORPHA:2969 |
Juvenile Hyaline Fibromatosis |
|
Aplasia/Hypoplasia of the skin, Subcutaneous nodule, Papule, Skin ulcer |
ORPHA:2028 |
Papa Syndrome |
|
Skin ulcer, Lymphadenopathy |
ORPHA:69126 |
Solitary Median Maxillary Central Incisor |
|
Decreased response to growth hormone stimulation test, Anterior hypopituitarism, Anophthalmia, Mi... |
OMIM:147250 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Aplastic anemia, Hemophagocytosis, Hepatitis, Pancytopenia, Splenomegaly, Hepatomegaly |
OMIM:300635 |
Glycogen Storage Disease Ixb |
|
Hepatomegaly, Splenomegaly, Increased hepatic glycogen content |
OMIM:261750 |
Microphthalmia, Syndromic 9 |
|
Multilobulated spleen, Bilateral microphthalmos, Cryptorchidism, Anophthalmia, Hypoplastic spleen |
OMIM:601186 |
Microphthalmia, Syndromic 5 |
|
Ectopic posterior pituitary, Cryptorchidism, Anophthalmia, Microphthalmia, Optic nerve hypoplasia |
OMIM:610125 |
American Trypanosomiasis |
|
Hepatomegaly, Localized skin lesion, Lymphadenopathy, Splenomegaly |
ORPHA:3386 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Cholelithiasis, Splenomegaly, Reticulocytosis, Cholecystitis, Nonspherocytic h... |
OMIM:235700 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Hepatomegaly, Lymphadenopathy, Splenomegaly, Autoimmune hemolytic anemia |
OMIM:619183 |
Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Hemophag... |
OMIM:619802 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Jaundice, Cirrhosis, Splenomegaly |
ORPHA:75234 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... |
OMIM:616689 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Abnormally low T cell receptor excision circle level, Reduced natural killer cell count, Lymphope... |
ORPHA:276 |
Focal Dermal Hypoplasia |
|
Hypoplasia of the iris, Dermal atrophy, Aplasia/Hypoplasia of the skin, Macule, Microphthalmia, S... |
ORPHA:2092 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Lymphadenitis, Abnormal lymph node morphology, Decreased proportion of CD8-positive T cells, Hepa... |
ORPHA:911 |
Adams-Oliver Syndrome 6 |
|
Aplasia cutis congenita of scalp, Hepatic fibrosis, Portal hypertension, Splenomegaly |
OMIM:616589 |
Microphthalmia With Limb Anomalies |
|
Unilateral cryptorchidism, Anophthalmia, Sacral dimple, Microphthalmia |
OMIM:206920 |
Klatskin Tumor |
|
Cholangiocarcinoma, Lymphadenopathy, Hepatomegaly, Jaundice, Extrahepatic cholestasis |
ORPHA:99978 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Acute pancreatitis, Recurrent tonsillitis, Lymphadenitis, Lymphopenia, Hepatosplenomegaly, Impair... |
OMIM:618935 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Anemia, Cryptorchidism, Aplasia/Hypoplasia affecting the eye, Thin skin |
ORPHA:2719 |
Recon Progeroid Syndrome |
|
Anemia, Thrombocytopenia, Thin skin |
OMIM:620370 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:85414 |
Focal Facial Dermal Dysplasia Type I |
|
Spotty hypopigmentation, Atrophic scars, Aplasia cutis congenita, Skin dimple |
ORPHA:79133 |
Hydrolethalus |
|
Cryptorchidism, Anophthalmia, Microphthalmia |
ORPHA:2189 |
Aggressive Systemic Mastocytosis |
|
Ascites, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukocytosis, Increased proportion of C... |
ORPHA:98850 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis |
OMIM:617441 |
Diamond-Blackfan Anemia |
|
Malignant genitourinary tract tumor, Acute myeloid leukemia, Adenocarcinoma of the colon, Myelody... |
ORPHA:124 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatomegaly, Hepatosplenomegaly, Splenomegaly, Hepatic steatosis |
OMIM:612526 |
Tafro Syndrome |
|
Ascites, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Thrombocy... |
ORPHA:457077 |
Hurler-Scheie Syndrome |
|
Hepatomegaly, Abnormality of the tonsils, Splenomegaly |
ORPHA:93476 |
Scrub Typhus |
|
Splenomegaly, Macule, Lymphadenopathy |
ORPHA:83317 |
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome |
|
Pancytopenia, Splenomegaly |
OMIM:614979 |
Joubert Syndrome 33 |
|
Splenomegaly |
OMIM:617767 |
Portal Hypertension, Noncirrhotic, 2 |
|
Nodular regenerative hyperplasia of liver, Ascites, Portal hypertension, Splenomegaly, Thrombocyt... |
OMIM:619463 |
Chronic Granulomatous Disease |
|
Skin ulcer, Splenomegaly, Macule, Hepatomegaly, Abnormality of neutrophils, Hypermelanotic macule... |
ORPHA:379 |
Adams-Oliver Syndrome 5 |
|
Cutis marmorata telangiectatica congenita, Hypersplenism, Splenomegaly, Portal vein thrombosis, A... |
OMIM:616028 |
Adult Syndrome |
|
Absent nipple, Skin ulcer, Breast hypoplasia, Melanocytic nevus, Hypoplastic nipples, Thin skin |
ORPHA:978 |
Cinca Syndrome |
|
Papule, Leukocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia, Abnormality of neutrop... |
ORPHA:1451 |
Medullary Thyroid Carcinoma |
|
Pheochromocytoma, Abnormal liver parenchyma morphology, Lymphadenopathy, Nodular goiter, Primary ... |
ORPHA:1332 |
Microphthalmia With Brain And Digit Anomalies |
|
Cryptorchidism, Anophthalmia, Microphthalmia |
ORPHA:139471 |
Immunodeficiency 10 |
|
Hypoplasia of the iris, Splenomegaly, Autoimmune hemolytic anemia, Abnormal lymphocyte count, Lym... |
OMIM:612783 |
Sézary Syndrome |
|
Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy |
ORPHA:3162 |
Mandibuloacral Dysplasia |
|
Abnormally large globe, Thin skin |
ORPHA:2457 |
Congenital Rubella Syndrome |
|
Aplasia/Hypoplasia of the iris, Splenomegaly, Hepatomegaly, Thrombocytopenia, Microphthalmia, Ane... |
ORPHA:290 |
Chronic Myeloid Leukemia |
|
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... |
ORPHA:521 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Thin skin |
OMIM:201170 |
Atypical Werner Syndrome |
|
Neoplasm of the skin, Neoplasm of the oral cavity, Meningioma, Neoplasm of the thyroid gland, Neo... |
ORPHA:79474 |
Pituitary Adenoma 4, Acth-Secreting |
|
Striae distensae, Pituitary adenoma, Thin skin |
OMIM:219090 |
Overhydrated Hereditary Stomatocytosis |
|
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... |
ORPHA:3203 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Intrahepatic cholestasis, Portal fibrosis, Portal inflammation, Ascites, Splenomegaly, Cirrhosis,... |
OMIM:602347 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hypoplasia of the iris, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Hepatomegaly, Hemolytic ... |
ORPHA:169090 |
Ornithine Transcarbamylase Deficiency |
|
Splenomegaly |
ORPHA:664 |
Cryohydrocytosis |
|
Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis |
OMIM:185020 |
Immunodeficiency 114, Folate-Responsive |
|
Skin ulcer, Lymphopenia, Splenomegaly, Megaloblastic anemia, Thrombocytopenia, Hepatomegaly |
OMIM:620603 |
Felty Syndrome |
|
Bone marrow hypocellularity, Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly, Lymphade... |
ORPHA:47612 |
Premature Aging Syndrome, Penttinen Type |
|
Keloids, Dermal atrophy, Microphthalmia, Skin nodule, Thin skin |
OMIM:601812 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
Diamond-Blackfan Anemia 1 |
|
Basal cell carcinoma, Myelodysplasia, Colon cancer, Osteosarcoma |
OMIM:105650 |
Polycythemia Vera |
|
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... |
OMIM:263300 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Anemia, Bone marrow hypocellularity, Thrombocytopenia, Thin skin |
OMIM:612199 |
Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Abnormal myelination |
ORPHA:85179 |
Spherocytosis, Type 4 |
|
Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia |
OMIM:612653 |
Superficial Epidermolytic Ichthyosis |
|
Thin skin |
ORPHA:455 |
Thyroid Lymphoma |
|
Lymphadenopathy, Goiter |
ORPHA:97285 |
Hemochromatosis, Type 2A |
|
Hepatomegaly, Cirrhosis, Splenomegaly |
OMIM:602390 |
Osteogenesis Imperfecta, Type Ii |
|
Thin skin |
OMIM:166210 |
Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Atrophic scars, Left ventricular hypertrophy, Thin skin |
ORPHA:230851 |
Ulerythema Ophryogenesis |
|
Hyperkeratotic papule, Dermal atrophy, Erythematous papule |
ORPHA:3406 |
Hyperkeratosis Lenticularis Perstans |
|
Aplasia/Hypoplasia of the skin, Papule, Skin ulcer |
ORPHA:409 |
Kikuchi-Fujimoto Disease |
|
Skin erosion, Skin nodule, Abnormal lymph node morphology, Cervical lymphadenopathy, Leukopenia, ... |
ORPHA:50918 |
Gaucher Disease, Type Iii |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia |
OMIM:231000 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Cryptorchidism, Anophthalmia, Microphthalmia |
ORPHA:77298 |
Aplasia Cutis Congenita |
|
Aplasia cutis congenita, Skin ulcer, Aplasia cutis congenita over the scalp vertex, Congenital lo... |
ORPHA:1114 |
Progressive Hemifacial Atrophy |
|
Aplasia/Hypoplasia of the skin |
ORPHA:1214 |
Harderoporphyria |
|
Splenomegaly, Reticulocytosis, Hepatomegaly, Prolonged neonatal jaundice, Hemolytic anemia |
OMIM:618892 |
Middle Ear Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy |
ORPHA:100084 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Supernumerary nipple, Cryptorchidism, Thin skin |
ORPHA:1812 |
Anophthalmia Plus Syndrome |
|
Anophthalmia |
ORPHA:1104 |
Roifman Syndrome |
|
Hepatomegaly, Splenomegaly, Eosinophilia, Lymphadenopathy |
OMIM:616651 |
Acute Monoblastic/Monocytic Leukemia |
|
Hypochromic anemia, Acute monocytic leukemia, Cervical lymphadenopathy, Leukocytosis, Lymphocytos... |
ORPHA:514 |
Spherocytosis, Type 1 |
|
Cholelithiasis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia |
OMIM:182900 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Spherocytosis, Splenomegaly |
ORPHA:66518 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, Decreased proporti... |
ORPHA:169154 |
Omenn Syndrome |
|
Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Hepatomegaly, Eosinophilia, Lymphaden... |
ORPHA:39041 |
Meckel Syndrome |
|
Accessory spleen, Cryptorchidism, Anophthalmia, Aplasia/Hypoplasia of the iris, Congenital hepati... |
ORPHA:564 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Splenomegaly, Cholecystitis, No... |
OMIM:613470 |
Spherocytosis, Type 2 |
|
Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia |
OMIM:616649 |
Thymic Neuroendocrine Tumor |
|
Pituitary adenoma, Pituitary prolactin cell adenoma, Increased circulating prolactin concentratio... |
ORPHA:97289 |
Pudendal Neuralgia |
|
Paresthesia, Allodynia |
ORPHA:60039 |
Hepatoportal Sclerosis |
|
Nodular regenerative hyperplasia of liver, Periportal fibrosis, Abnormality of the hepatic vascul... |
ORPHA:64743 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Cholelithiasis, Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Reticulocytosis, S... |
OMIM:266200 |
Marshall-Smith Syndrome |
|
Thin skin |
ORPHA:561 |
Adult Syndrome |
|
Absent nipple, Dermal atrophy, Breast hypoplasia, Hypoplastic nipples, Thin skin |
OMIM:103285 |
Cockayne Syndrome Type 1 |
|
Cryptorchidism, Anophthalmia, Hepatomegaly, Anemia, Hypermelanotic macule |
ORPHA:90321 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Psoriasiform dermatitis, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Neutropenia ... |
ORPHA:436159 |
Erythrocytosis, Familial, 1 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red... |
OMIM:133100 |
Immunodeficiency 91 And Hyperinflammation |
|
Neutrophilia, Hemophagocytosis, Hepatosplenomegaly, Lymphadenopathy, Thrombocytopenia, Monocytosi... |
OMIM:619644 |
Cerebrooculonasal Syndrome |
|
Anophthalmia |
ORPHA:66625 |
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy |
|
Dermal atrophy |
OMIM:617294 |
Hb Bart'S Hydrops Fetalis |
|
Anemia, Hepatomegaly, Splenomegaly, Abnormal hemoglobin |
ORPHA:163596 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Abnormally low T cell receptor excision circle level, Lymphadenitis, Lymphopenia, Hepatosplenomeg... |
OMIM:618986 |
Anaplastic Thyroid Carcinoma |
|
Nodular goiter, Lymphadenopathy, Goiter |
ORPHA:142 |
Apolipoprotein C-Ii Deficiency |
|
Hepatomegaly, Eruptive xanthomas, Pancreatitis, Splenomegaly |
OMIM:207750 |
Elliptocytosis 1 |
|
Jaundice, Hemolytic anemia, Splenomegaly, Elliptocytosis |
OMIM:611804 |
Acquired Hypertrichosis Lanuginosa |
|
Ovarian neoplasm, Lymphadenopathy |
ORPHA:2221 |
Neurodevelopmental Disorder With Variable Motor And Language Impairment |
|
Cafe-au-lait spot, Thin skin |
OMIM:617804 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Cryptorchidism, Thin skin |
OMIM:617602 |
Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Cryptorchidism, Thin skin |
OMIM:614438 |
Trisomy 1Q |
|
Cryptorchidism, Anophthalmia |
ORPHA:261344 |
Alpha-Thalassemia |
|
Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenome... |
ORPHA:846 |
Walker-Warburg Syndrome |
|
Cryptorchidism, Anophthalmia, Microphthalmia |
ORPHA:899 |
Purine Nucleoside Phosphorylase Deficiency |
|
Lymphopenia, Lymph node hypoplasia, Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in pre... |
OMIM:613179 |
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Microcytic anemia, Hepatosplenomegaly, Lymphadenopathy |
OMIM:619750 |
Ehlers-Danlos Syndrome, Periodontal Type, 1 |
|
Atrophic scars, Thin skin |
OMIM:130080 |
Glycogen Storage Disease Ixa1 |
|
Hepatomegaly, Splenomegaly |
OMIM:306000 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Webbed neck, Optic nerve hypoplasia, Preauricular pit, Cryptorchidism, Cafe-au-lait spot, Thin skin |
OMIM:617506 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Intrahepatic cholestasis, Splenomegaly, Intermittent jaundice, Cirrhosis, Hepatomegaly, Hepatocel... |
OMIM:601847 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Hepatic fibrosis, Cholestasis, Hepatosplenomegaly, Congenital hepatic fibrosis, Hepatomegaly, Ane... |
OMIM:266920 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Exocrine pancreatic insufficiency, Splenomegaly, Anemia of inadequate production, Hepatomegaly, J... |
OMIM:612714 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Breast aplasia, Dermal atrophy, Thin skin |
ORPHA:90153 |
Macrophage Activation Syndrome |
|
Hemophagocytosis, Hepatitis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Neutropenia, Thrombocyt... |
ORPHA:158061 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Anemia, Hepatomegaly, Splenomegaly |
OMIM:620296 |
Cryoglobulinemic Vasculitis |
|
Skin ulcer, Abnormality of the liver, Splenomegaly, Hepatomegaly, Mediastinal lymphadenopathy, Vi... |
ORPHA:91138 |
Roifman Syndrome |
|
Eosinophilia, Hepatosplenomegaly, Lymphadenopathy |
ORPHA:353298 |
Epidermolysis Bullosa With Congenital Localized Absence Of Skin And Deformity Of Nails |
|
Congenital localized absence of skin |
OMIM:132000 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Striae distensae, Thin skin |
OMIM:610489 |
Beta-Thalassemia Intermedia |
|
Cholelithiasis, Skin ulcer, Extramedullary hematopoiesis, Persistence of hemoglobin F, Increased ... |
ORPHA:231222 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Hepatosplenomegaly, Psoriasiform dermatitis... |
OMIM:606367 |
Myelofibrosis |
|
Hemophagocytosis, Extramedullary hematopoiesis, Splenomegaly, Hepatomegaly, Myeloproliferative di... |
OMIM:254450 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Ascites, Dermal atrophy, Hydrocele testis, Abnormality of the lymphatic system |
ORPHA:69735 |
Sclerosing Cholangitis, Neonatal |
|
Hepatic bridging fibrosis, Portal fibrosis, Biliary cirrhosis, Cholestasis, Ascites, Portal hyper... |
OMIM:617394 |
Congenital Pulmonary Lymphangiectasia |
|
Ascites, Hepatomegaly, Splenomegaly |
ORPHA:2414 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Hepatomegaly, Peritonitis, Papule, Lymphadenopathy |
ORPHA:343 |
Cyclic Neutropenia |
|
Recurrent tonsillitis, Cervical lymphadenopathy, Lymphopenia, Cyclic neutropenia, Peritonitis, Ly... |
ORPHA:2686 |
Microgastria-Limb Reduction Defect Syndrome |
|
Hepatomegaly, Abnormality of the spleen, Anophthalmia, Microphthalmia |
ORPHA:2538 |
Immunodeficiency 32B |
|
Impaired oxidative burst, Splenomegaly, Hepatomegaly, Eosinophilia, Monocytopenia, Thrombocytopen... |
OMIM:226990 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
B Acute Lymphoblastic Leukemia, Pancytopenia, Splenomegaly, Increased proportion of effector memo... |
OMIM:619824 |
Xeroderma Pigmentosum |
|
Hypopigmented skin patches, Dermal atrophy, Melanocytic nevus, Decreased testicular size, Cryptor... |
ORPHA:910 |
Wolman Disease |
|
Ascites, Splenomegaly, Hepatomegaly, Anemia, Bone-marrow foam cells |
ORPHA:75233 |
Osteopetrosis, Autosomal Recessive 4 |
|
Splenomegaly, Reticulocytosis, Hepatomegaly, Thrombocytopenia, Anemia |
OMIM:611490 |
Spinal Cord Injury |
|
Dysesthesia, Somatic sensory dysfunction, Allodynia |
ORPHA:90058 |
Joubert Syndrome 21 |
|
Splenomegaly, Anophthalmia |
OMIM:615636 |
Rapp-Hodgkin Syndrome |
|
Supernumerary nipple, Decreased number of sweat glands, Thin skin |
OMIM:129400 |
Fetal Gaucher Disease |
|
Abnormality of the spleen, Pancytopenia, Splenomegaly, Thrombocytopenia, Hepatomegaly |
ORPHA:85212 |
Pemphigus Erythematosus |
|
Antinuclear antibody positivity, Autoimmunity, Anti-acetylcholine receptor antibody positivity, S... |
ORPHA:79480 |
Pancreatoblastoma |
|
Pancreatic calcification, Jaundice, Abnormal lymph node morphology |
ORPHA:677 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Hepatitis, Splenomegaly, Inc... |
OMIM:194380 |
Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Increased mean corpuscular volume, Splenomegaly, Reticulocytosis, Hepatomegaly, P... |
OMIM:185000 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Hepatitis, Decreased FOXP3-expressing T cell count, Eosinophilia, Coombs-positive hemolytic anemi... |
OMIM:304790 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Leukocytosis, Splenomegaly |
OMIM:618042 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Absence of lymph node germinal center, Hepatitis, Chronic hepatitis, Splenomegaly, Sclerosing cho... |
OMIM:308230 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Thin skin |
ORPHA:449291 |
Aregenerative Anemia |
|
Bone marrow hypocellularity, Pancytopenia, Decreased proportion of CD4-positive helper T cells, A... |
ORPHA:101096 |
Geroderma Osteodysplastica |
|
Thin skin |
ORPHA:2078 |
Cholesteryl Ester Storage Disease |
|
Hepatic bridging fibrosis, Hepatic fibrosis, Periportal fibrosis, Increased hepatic echogenicity,... |
OMIM:278000 |
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia |
|
Aplasia/Hypoplasia of the skin, Atypical scarring of skin, Subcutaneous nodule |
ORPHA:1366 |
Chediak-Higashi Syndrome |
|
Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Macular hypoplasia, Hepato... |
OMIM:214500 |
Holoprosencephaly |
|
Panhypopituitarism, Abnormality of the spleen, Cryptorchidism, Anophthalmia, Microphthalmia, Ante... |
ORPHA:2162 |
Glass Syndrome |
|
Thin skin |
OMIM:612313 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Lymphadenopathy |
ORPHA:411703 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jaundice, Hepatom... |
OMIM:211600 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly |
OMIM:235555 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Optic nerve hypoplasia, Atrophic scars, Cryptorchidism, Agenesis of pineal gland, Numerous nevi, ... |
ORPHA:536471 |
Neonatal Lupus Erythematosus |
|
Aplastic anemia, Pancytopenia, Abnormality of the liver, Erythematous plaque, Splenomegaly, Hepat... |
ORPHA:398124 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Abnormal myelination |
ORPHA:352682 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Hepatomegaly, Cafe-au-lait spot, Splenomegaly |
OMIM:618541 |
Kosaki Overgrowth Syndrome |
|
Xanthelasma, Thin skin |
OMIM:616592 |
Hypohidrotic Ectodermal Dysplasia |
|
Breast aplasia, Thin skin |
ORPHA:238468 |
Dermatosparaxis Ehlers-Danlos Syndrome |
|
Thin skin |
ORPHA:1901 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequate... |
OMIM:224120 |
Castleman Disease |
|
Follicular hyperplasia, Abdominal mass, Generalized lymphadenopathy, Lymphadenopathy, Thrombocyto... |
ORPHA:160 |
De Barsy Syndrome |
|
Cryptorchidism, Thin skin |
ORPHA:2962 |
Adult-Onset Still Disease |
|
Bone marrow hypocellularity, Hepatitis, Leukocytosis, Splenomegaly, Hepatomegaly, Generalized lym... |
ORPHA:829 |
Glycogen Storage Disease Ixc |
|
Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Hepatomegaly, Bile duct proliferation |
OMIM:613027 |
Carcinoid Syndrome |
|
Hepatic necrosis, Erythematous plaque, Chronic noninfectious lymphadenopathy |
ORPHA:100093 |
Familial Tumoral Calcinosis |
|
Hypopigmented skin patches, Splenomegaly, Periarticular subcutaneous nodules, Hepatomegaly, Subcu... |
ORPHA:53715 |
Lichen Planopilaris |
|
Hepatitis, Skin ulcer, Hypopigmented skin patches, Dermal atrophy, Papule |
ORPHA:525 |
Graft Versus Host Disease |
|
Skin erosion, Hemophagocytosis, Hepatosplenomegaly, Chronic hepatitis, Lichenoid skin lesion, Lym... |
ORPHA:39812 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Aplasia cutis congenita, Asymmetric, linear skin defects, Microphthalmia |
OMIM:300887 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Dermal atrophy, Thin skin |
ORPHA:90154 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Decreased proportion of memory B cells, Absence of lymph node germinal center, Ascites, Hepatospl... |
ORPHA:79124 |
Stuve-Wiedemann Syndrome 1 |
|
Milia, Thin skin |
OMIM:601559 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Splenomegaly, Autoimmune hemolytic anemia |
ORPHA:90037 |
Sickle Cell Disease |
|
Splenic infarction, Cholelithiasis, Increased red cell sickling tendency, Leukocytosis, Splenomeg... |
OMIM:603903 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Anemia, Splenomegaly, Pancytopenia, Hemophagocytosis |
OMIM:618398 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Lymphadenitis, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Granulomatosis, Hepatomeg... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Lymphadenitis, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Granulomatosis, Hepatomeg... |
OMIM:233710 |
Hereditary Spherocytosis |
|
Spontaneous hemolytic crises, Cholelithiasis, Skin ulcer, Extramedullary hematopoiesis, Increased... |
ORPHA:822 |
Hereditary Acrokeratotic Poikiloderma |
|
Papule, Skin ulcer, Hypopigmented skin patches, Thin skin |
ORPHA:2907 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly... |
OMIM:300908 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukopenia, Splenomegaly, Hepatomegaly, Lymph... |
OMIM:603553 |
Neurotrophic Keratopathy |
|
Hyperesthesia, Allodynia |
ORPHA:137596 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic... |
ORPHA:98849 |
Acute Panmyelosis With Myelofibrosis |
|
Bone marrow hypocellularity, Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Acute mye... |
ORPHA:86843 |
Oculotrichoanal Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:2717 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Intrahepatic cholestasis, Giant cell hepatitis, Splenomegaly, Cirrhosis, Acholic stools, Hepatome... |
OMIM:607765 |
Kaufman Oculocerebrofacial Syndrome |
|
Preauricular skin tag, Thin skin |
OMIM:244450 |
Sarcoidosis, Susceptibility To, 2 |
|
Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly |
OMIM:612387 |
Acute Generalized Exanthematous Pustulosis |
|
Cholestasis, Leukocytosis, Skin vesicle, Eosinophilia, Lymphadenopathy, Neutropenia, Neutrophilia |
ORPHA:293173 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Absent nipple, Aplasia/Hypoplastia of the eccrine sweat glands, Hypoplastic nipples, Hypoplastic-... |
OMIM:305100 |
Immunodeficiency 36 With Lymphoproliferation |
|
Lymphopenia, Splenomegaly, Chronic lymphatic leukemia, Increased proportion of transitional B cel... |
OMIM:616005 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Cholestatic liver disease, Hemophagocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Neutrop... |
ORPHA:540 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hemophagocytosis, Leukopenia, Splenomegaly, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Anem... |
OMIM:267700 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Lymphopenia, Splenomegaly, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Anemia |
OMIM:617591 |
Legionnaires Disease |
|
Bone marrow hypocellularity, Hepatitis, Lymphopenia, Splenomegaly, Pancreatitis, Lymphadenopathy,... |
ORPHA:549 |
Dominant Beta-Thalassemia |
|
Hepatic fibrosis, Skin ulcer, Reduced hemoglobin A, Persistence of hemoglobin F, Extramedullary h... |
ORPHA:231226 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Hypopituitarism, Increased B cell count, Absent peripheral lymph nodes in presence of infection, ... |
ORPHA:98813 |
Dehydrated Hereditary Stomatocytosis |
|
Cholelithiasis, Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemog... |
ORPHA:3202 |
Lig4 Syndrome |
|
Acute leukemia, Pancytopenia, Leukocytosis, Cryptorchidism, Lymphadenopathy, Hepatomegaly |
ORPHA:99812 |
Budd-Chiari Syndrome |
|
Ascites, Portal hypertension, Splenomegaly, Cholecystitis, Peritonitis, Cirrhosis, Hepatomegaly, ... |
ORPHA:131 |
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia |
|
Aplasia cutis congenita |
OMIM:612138 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Lymphadenitis, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Granulomatosis, Hepatomeg... |
OMIM:233690 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato... |
OMIM:613673 |
Familial Pancreatic Carcinoma |
|
Peritoneal abscess, Pancreatic adenocarcinoma, Exocrine pancreatic insufficiency, Hepatosplenomeg... |
ORPHA:1333 |
Arterial Tortuosity Syndrome |
|
Thin skin |
OMIM:208050 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Abnormal lymph node morphology, Hepatosplenomegaly, Hepatomegaly, Lymphadenopathy, Abnormal testi... |
ORPHA:85450 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Pancytopenia, Autoimmune hemolytic anemia, Splenomegaly, Generalized lymphadenopathy, Decreased p... |
OMIM:614700 |
Cushing Disease |
|
Skin ulcer, Striae distensae, Lymphopenia, Leukocytosis, Adrenal hyperplasia, Pituitary corticotr... |
ORPHA:96253 |
Fetal Cytomegalovirus Syndrome |
|
Hepatitis, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Jaundice |
ORPHA:294 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Atrophic scars, Thin skin |
ORPHA:536467 |
Branchiooculofacial Syndrome |
|
Dermoid cyst, Atypical scarring of skin, Supernumerary nipple, Dermal atrophy, Preauricular pit, ... |
OMIM:113620 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrhosis, Polysplenia, Chole... |
OMIM:208540 |
Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Anophthalmia, Cryptorchidism, Anterior pituitary hypoplasia, Microphthalmia,... |
OMIM:206900 |
Hereditary Elliptocytosis |
|
Cholelithiasis, Stomatocytosis, Skin ulcer, Abnormal erythrocyte morphology, Congenital hemolytic... |
ORPHA:288 |
14Q22Q23 Microdeletion Syndrome |
|
Preauricular skin tag, Optic nerve aplasia, Anophthalmia, Cryptorchidism, Anterior pituitary hypo... |
ORPHA:264200 |
Hypocomplementemic Urticarial Vasculitis |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Ascites |
ORPHA:36412 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatitis, Splenomegaly, Ductal bile plugs, ... |
OMIM:613812 |
Sitosterolemia 1 |
|
Stomatocytosis, Giant platelets, Xanthelasma, Reticulocytosis, Splenomegaly, Episodic hemolytic a... |
OMIM:210250 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Hepatitis, Eosinophilia, Lymphocytosis, Macule, Lymphadenopathy |
ORPHA:139402 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Skin ulcer, Abnormal lymph node morphology, Pancreatic adenocarcinoma, Striae distensae, Lymphope... |
ORPHA:99889 |
Mevalonic Aciduria |
|
Fluctuating splenomegaly, Hepatosplenomegaly, Leukocytosis, Fluctuating hepatomegaly, Lymphadenop... |
OMIM:610377 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8 |
|
Nodular regenerative hyperplasia of liver, Increased mean corpuscular volume, Portal hypertension... |
OMIM:620367 |
Beta-Thalassemia Major |
|
Hepatic fibrosis, Skin ulcer, Reduced hemoglobin A, Persistence of hemoglobin F, Extramedullary h... |
ORPHA:231214 |
Epidermolysis Bullosa, Junctional 1B, Severe |
|
Atrophic scars, Milia, Congenital localized absence of skin |
OMIM:226700 |
Melkersson-Rosenthal Syndrome |
|
Lymphadenopathy |
ORPHA:2483 |
Immunodeficiency 60 And Autoimmunity |
|
Decreased proportion of memory B cells, Pancytopenia, Decreased basophil count, Splenomegaly |
OMIM:618394 |
Arterial Tortuosity Syndrome |
|
Thin skin |
ORPHA:3342 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Skin ulcer, Anophthalmia, Microphthalmia, Leukemia, Subcutaneous nodule |
ORPHA:2526 |
Fibular Hemimelia |
|
Anophthalmia, Thrombocytopenia |
ORPHA:93323 |
Helsmoortel-Van Der Aa Syndrome |
|
Decreased response to growth hormone stimulation test, Cryptorchidism, Pineal cyst, Enlarged kidn... |
OMIM:615873 |
Adams-Oliver Syndrome |
|
Ascites, Leukopenia, Portal hypertension, Congenital hepatic fibrosis, Aplasia/Hypoplasia of the ... |
ORPHA:974 |
Meier-Gorlin Syndrome 1 |
|
Breast hypoplasia, Cryptorchidism, Thin skin |
OMIM:224690 |
Hyperlipoproteinemia, Type I |
|
Eruptive xanthomas, Hepatosplenomegaly, Splenomegaly, Jaundice, Acute pancreatitis |
OMIM:238600 |
Gaucher Disease, Type I |
|
Pancytopenia, Hypersplenism, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia |
OMIM:230800 |
Pulmonary Capillary Hemangiomatosis |
|
Capillary malformation, Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:199241 |
Osteogenesis Imperfecta, Type I |
|
Thin skin |
OMIM:166200 |
Infantile Liver Failure Syndrome 3 |
|
Hepatic bridging fibrosis, Cholestasis, Hepatic steatosis, Splenomegaly, Hepatomegaly, Jaundice |
OMIM:618641 |
Hyperlipoproteinemia, Type Id |
|
Eruptive xanthomas, Splenomegaly, Recurrent pancreatitis, Pancreatitis, Hepatomegaly |
OMIM:615947 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Cryptorchidism, Anterior pituitary hypoplasia, Thin skin |
OMIM:151050 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Hypopigmented skin patches, Dermal atrophy, Anophthalmia, Aplasia/Hypoplasia of the skin, Abnorma... |
ORPHA:2556 |
Aplasia Cutis-Myopia Syndrome |
|
Aplasia cutis congenita, Skin ulcer |
ORPHA:1117 |
Epidermolysis Bullosa Simplex With Muscular Dystrophy |
|
Aplasia/Hypoplasia of the skin, Dermal atrophy, Papule, Skin vesicle |
ORPHA:257 |
Manitoba Oculotrichoanal Syndrome |
|
Anophthalmia, Microphthalmia |
OMIM:248450 |
Vacterl With Hydrocephalus |
|
Cryptorchidism, Anophthalmia, Microphthalmia |
ORPHA:3412 |
Acute Promyelocytic Leukemia |
|
Leukopenia, Pancytopenia, Leukocytosis, Lymphadenopathy, Neutropenia, Thrombocytopenia, Anemia |
ORPHA:520 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Aniridia, Cryptorchidism, Anophthalmia |
ORPHA:1101 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Bone marrow hypocellularity, Skin ulcer, Urticarial plaque, Lymphopenia, Pancytopenia, Hepatosple... |
OMIM:615688 |
Gaucher Disease Type 1 |
|
Splenic infarction, Cholelithiasis, Ascites, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leu... |
ORPHA:77259 |
Sjogren Syndrome |
|
Rheumatoid arthritis, Autoimmunity |
OMIM:270150 |
Hyper-Igd Syndrome |
|
Lymphadenitis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Lymphadenopathy, Neutrophilia |
OMIM:260920 |
Mixed Connective Tissue Disease |
|
Leukopenia, Hemolytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadeno... |
ORPHA:809 |
Dyskeratosis Congenita |
|
Bone marrow hypocellularity, Skin ulcer, Hypopigmented skin patches, Splenomegaly, Skin vesicle, ... |
ORPHA:1775 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Increased proportion of CD4-positive T cells, Leukocytosis, Lymphadenopathy, Neutrophilia |
OMIM:617099 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Chronic lymphatic leukemia, Jaundice, Splenomegaly, Autoimmune hemolytic anemia |
ORPHA:90033 |
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Capillary malformation, Webbed neck, Splenomegaly |
OMIM:612918 |
Focal Facial Dermal Dysplasia Type Iii |
|
Aplasia/Hypoplasia of the skin, Multiple cafe-au-lait spots, Hypopigmented skin patches |
ORPHA:1807 |
Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
|
Thymus hyperplasia |
OMIM:619036 |
Pelizaeus-Merzbacher Disease, Connatal Form |
|
Cerebral hypomyelination, Abnormal myelination, Gliosis |
ORPHA:280210 |
Periodic Fever, Familial, Autosomal Dominant |
|
Cervical lymphadenopathy, Hepatomegaly, Hepatic amyloidosis |
OMIM:142680 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Cryptorchidism, Anophthalmia, Microphthalmia |
ORPHA:2250 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Ascites, Erythematous plaque, Chronic noninfectious lymphadenopathy, Hepatic cysts, Intermittent ... |
ORPHA:100085 |
Kaposiform Lymphangiomatosis |
|
Hepatosplenomegaly, Splenomegaly, Lymphangioma, Abnormality of the lymphatic system, Abnormal lym... |
ORPHA:464329 |
Common Variable Immunodeficiency |
|
Lymphopenia, Abnormality of the liver, Splenomegaly, Lymphadenopathy, Autoimmune thrombocytopenia... |
ORPHA:1572 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Cholestatic liver disease, Polysplenia, Exocrine pancreatic insufficiency, Sple... |
OMIM:619418 |
Camptodactyly, Tall Stature, And Hearing Loss Syndrome |
|
Osteochondroma |
OMIM:610474 |
Localized Junctional Epidermolysis Bullosa |
|
Atypical scarring of skin, Milia, Scarring alopecia of scalp, Aplasia cutis congenita, Skin detac... |
ORPHA:251393 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hepatic fibrosis, Cholestasis, Portal hypertension, Splenomegaly, Sclerosing cholangitis, Intrahe... |
OMIM:607626 |
Granulomatous Disease, Chronic, X-Linked |
|
Lymphadenitis, Ascites, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Granulomatosis, ... |
OMIM:306400 |
Poems Syndrome |
|
Visceromegaly, Polycythemia, Increased circulating prolactin concentration, Ascites, Splenomegaly... |
ORPHA:2905 |
Curry-Jones Syndrome |
|
Aplasia/Hypoplasia of the skin, Hypopigmented skin patches, Microphthalmia |
ORPHA:1553 |
Neuroblastoma |
|
Lymphadenopathy, Thrombocytopenia, Anemia, Subcutaneous nodule, Abdominal mass |
ORPHA:635 |
Caroli Disease |
|
Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Cholestasis, Ascit... |
ORPHA:53035 |
Gray Platelet Syndrome |
|
Splenomegaly, Abnormal number of alpha granules, Thrombocytopenia |
OMIM:139090 |
Holoprosencephaly 9 |
|
Preauricular skin tag, Anterior pituitary agenesis, Decreased response to growth hormone stimulat... |
OMIM:610829 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Absent natural killer cells, Lymphopenia, Absent peripheral lymph nodes in presence of infection,... |
OMIM:600802 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Molluscoid pseudotumors, Thin skin |
OMIM:225400 |
Huriez Syndrome |
|
Aplasia/Hypoplasia of the skin |
ORPHA:384 |
Farber Disease |
|
Hepatic fibrosis, Ascites, Hepatosplenomegaly, Periarticular subcutaneous nodules, Lymphadenopath... |
ORPHA:333 |
Hoyeraal-Hreidarsson Syndrome |
|
Bone marrow hypocellularity, Dermal atrophy, Abnormal leukocyte morphology, Thrombocytopenia, Anemia |
ORPHA:3322 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Anophthalmia, Microphthalmia |
OMIM:615877 |
Agammaglobulinemia, X-Linked |
|
Lymph node hypoplasia, Neutropenia, B lymphocytopenia, Anemia, Enteroviral hepatitis, T lymphocyt... |
OMIM:300755 |
Wiedemann-Rautenstrauch Syndrome |
|
Hypoplasia of the thymus, Cryptorchidism, Thin skin |
OMIM:264090 |
Gallbladder Neuroendocrine Tumor |
|
Biliary tract neoplasm, Ascites, Chronic noninfectious lymphadenopathy, Cholecystitis, Intermitte... |
ORPHA:100086 |
Immunodeficiency 55 |
|
Lymphopenia, Absent natural killer cells, Lymphadenopathy, Neutropenia |
OMIM:617827 |
Fraser Syndrome 1 |
|
Abnormal thymus morphology, Bilateral microphthalmos, Cryptorchidism, Anophthalmia |
OMIM:219000 |
Isolated Biliary Atresia |
|
Periportal fibrosis, Hypopituitarism, Atretic gallbladder, Xanthelasma, Cholestasis, Splenomegaly... |
ORPHA:30391 |
Waldenström Macroglobulinemia |
|
Normocytic anemia, Splenomegaly, Hepatomegaly, Lymphadenopathy, Leukemia, Abnormality of neutrophils |
ORPHA:33226 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Pancreatic hypoplasia, Decreased response to growth hormone stimulation test, Cervical lymphadeno... |
OMIM:602782 |
Ablepharon Macrostomia Syndrome |
|
Breast hypoplasia, Thin skin |
ORPHA:920 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Lymphopenia, Leukopenia, Follicular hyperplasia, Thrombocytosis, Anemia, Paratracheal lymphadenop... |
OMIM:615934 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Leukocytosis, Splenomegaly, Orchitis, Peritonitis, Macule, Lymphadenopathy, Hypermelanotic macule |
ORPHA:32960 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Atypical scarring of skin, Thin skin |
ORPHA:536545 |
Carney Triad |
|
Ascites, Pheochromocytoma, Lymphadenopathy, Anemia, Mediastinal lymphadenopathy |
ORPHA:139411 |
Malt Lymphoma |
|
Anemia, Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:52417 |
H Syndrome |
|
Microcytic anemia, Decreased testicular size, Hepatosplenomegaly, Psoriasiform dermatitis, Lympha... |
ORPHA:168569 |
Adenocarcinoma Of The Anal Canal |
|
Neoplasm of the liver, Skin ulcer, Lymphadenopathy |
ORPHA:424016 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Decreased response to growth hormone stimulation test, Cryptorchidism, Absence of Stensen duct, H... |
OMIM:129900 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Decreased proportion of naive T cells, Aplasia of the thymus, Atypical or prolonged hepatitis, Co... |
ORPHA:83471 |
Pediatric Systemic Lupus Erythematosus |
|
Microangiopathic hemolytic anemia, Ascites, Lymphopenia, Leukopenia, Lymphadenopathy, Thrombocyto... |
ORPHA:93552 |
Coccidioidomycosis |
|
Indurated nodule, Atypical scarring of skin, Urticarial plaque, Abnormality of the spleen, Abnorm... |
ORPHA:228123 |
Poikiloderma With Neutropenia |
|
Dermal atrophy, Leukopenia, Splenomegaly, Neutropenia |
OMIM:604173 |
Malakoplakia |
|
Skin ulcer, Follicular hyperplasia, Orchitis, Subcutaneous nodule, Papule |
ORPHA:556 |
Charge Syndrome |
|
Webbed neck, Parathyroid hypoplasia, Aplasia/Hypoplasia of the thymus, Decreased response to grow... |
OMIM:214800 |
Q Fever |
|
Hepatitis, Hepatosplenomegaly, Abnormality of the liver, Splenomegaly, Cholecystitis, Hepatomegal... |
ORPHA:781 |
Desmosterolosis |
|
Aplasia/Hypoplasia of the skin, Dermal atrophy, Splenomegaly |
ORPHA:35107 |
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
Abnormal myelination |
ORPHA:289266 |
Acute Interstitial Pneumonia |
|
Reduced hematocrit, Lymphadenopathy |
ORPHA:79126 |
Lymphatic Filariasis |
|
Lymphadenitis, Hypereosinophilia, Orchitis, Abnormality of the lymphatic system, Vaginal hydrocel... |
ORPHA:2035 |
Oculocerebrocutaneous Syndrome |
|
Preauricular skin tag, Hypopigmented skin patches, Skin tags, Cryptorchidism, Aplasia/Hypoplasia ... |
ORPHA:1647 |
Autoimmune Lymphoproliferative Syndrome |
|
Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive helper T cells, Abnormal proport... |
ORPHA:3261 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Hepatomegaly, Dermal atrophy, Hepatic steatosis, Cryptorchidism |
OMIM:615381 |
Cerebrooculonasal Syndrome |
|
Anophthalmia, Optic nerve hypoplasia |
OMIM:605627 |
Stiff Skin Syndrome |
|
Aplasia/Hypoplasia of the skin, Subcutaneous nodule |
ORPHA:2833 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Bone marrow hypocellularity, Aplastic anemia, Increased mean corpuscular volume, Dermal atrophy, ... |
OMIM:127550 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Stomatocytosis, Splenomegaly, Thrombocytopenia, Hemolytic anemia, Increased mean platelet volume |
OMIM:153670 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatic fibrosis, Pancreatic hypoplasia, Hepatitis, Cholestasis, Portal hypertension, Splenic cys... |
OMIM:610199 |
Focal Dermal Hypoplasia |
|
Focal dermal aplasia/hypoplasia, Supernumerary nipple, Dermal atrophy, Aniridia, Cryptorchidism, ... |
OMIM:305600 |
Charge Syndrome |
|
Webbed neck, Preauricular skin tag, Anophthalmia, Cryptorchidism, Microphthalmia, Anterior hypopi... |
ORPHA:138 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Hypermelanotic macule, Lymphopenia, T lymphocytopenia, Lymphadenopathy, Neutropenia, Autoimmune t... |
OMIM:607944 |
Glycogen Storage Disease Xii |
|
Normocytic anemia, Cholelithiasis, Splenomegaly, Cholecystitis, Decreased erythrocyte fructose-1,... |
OMIM:611881 |
Immunodeficiency 31C |
|
Lymphopenia, Autoimmune hemolytic anemia, Splenomegaly, Impaired lymphocyte transformation with p... |
OMIM:614162 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Hepatitis, Psoriasiform dermatitis, Autoimmune hemolytic anemia, Splenomegaly, Iron deficiency an... |
ORPHA:37042 |
Neuroendocrine Tumor Of The Colon |
|
Hepatomegaly, Chronic noninfectious lymphadenopathy |
ORPHA:100080 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Decreased mean platelet volume, Cervical lymphadenopathy, Lymphocytosis, Lymphadenopathy, Thrombo... |
OMIM:617718 |
Czech Dysplasia |
|
Osteochondroma |
OMIM:609162 |
Glycogen Storage Disease Ib |
|
Xanthelasma, Splenomegaly, Xanthomatosis, Pancreatitis, Pancreatic fibrosis, Neutropenia, Hepatom... |
OMIM:232220 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Hypoesthesia, Dementia, Distal sensory impairment, Allodynia |
OMIM:603041 |
Adams-Oliver Syndrome 3 |
|
Aplasia cutis congenita |
OMIM:614814 |
Wiedemann-Rautenstrauch Syndrome |
|
Optic disc hypoplasia, Increased circulating prolactin concentration, Decreased response to growt... |
ORPHA:3455 |
Tangier Disease |
|
Hepatosplenomegaly, Chronic noninfectious lymphadenopathy, Left ventricular hypertrophy, Orange d... |
ORPHA:31150 |
Tooth Agenesis, Selective, 4 |
|
Thin skin |
OMIM:150400 |
Lymphangioleiomyomatosis |
|
Ascites, Pulmonary lymphangiomyomatosis, Abnormality of the lymphatic system, Lymphadenopathy, Ma... |
ORPHA:538 |
Parenteral Nutrition-Associated Cholestasis |
|
Hepatic fibrosis, Cholelithiasis, Portal hypertension, Splenomegaly, Hepatic steatosis, Biliary h... |
ORPHA:567983 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatic fibrosis, Periportal fibrosis, Portal hypertension, Splenomegaly, Hepatic cysts, Hepatome... |
OMIM:263200 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Hilar lymph node enlargement, Cholestasis, Leukocytosis, Hepatomegaly, Mediastinal lymphadenopathy |
OMIM:620233 |
Idiopathic Hypereosinophilic Syndrome |
|
Portal fibrosis, Cervical lymphadenopathy, Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Sple... |
ORPHA:3260 |
Chédiak-Higashi Syndrome |
|
Abnormality of neutrophil physiology, Hemophagocytosis, Abnormal natural killer cell morphology, ... |
ORPHA:167 |
Congenital Syphilis |
|
Extramedullary hematopoiesis, Hepatosplenomegaly, Prolonged neonatal jaundice, Pancreatitis, Lymp... |
ORPHA:499009 |
Loeys-Dietz Syndrome |
|
Striae distensae, Atypical scarring of skin, Thin skin |
ORPHA:60030 |
Bronchial Neuroendocrine Tumor |
|
Hepatomegaly, Chronic noninfectious lymphadenopathy, Elevated circulating growth hormone concentr... |
ORPHA:97287 |
Acute Radiation Syndrome |
|
Skin ulcer, Dermal atrophy, Lymphopenia, Thrombocytopenia, Granulocytopenia |
ORPHA:454831 |
Gaucher Disease, Type Iiic |
|
Cardiomegaly, Hepatomegaly, Pancytopenia, Splenomegaly |
OMIM:231005 |
Hereditary Orotic Aciduria |
|
Anemia, Splenomegaly |
ORPHA:30 |
Lipodystrophy, Familial Partial, Type 7 |
|
Recurrent pancreatitis, Thin skin |
OMIM:606721 |
Igg4-Related Submandibular Gland Disease |
|
Enlarged lacrimal glands, Abnormal pancreas morphology, Abnormality of the submandibular glands, ... |
ORPHA:449432 |
Hypermobile Ehlers-Danlos Syndrome |
|
Atypical scarring of skin, Pelvic organ prolapse, Striae distensae, Cystocele, Subcutaneous nodul... |
ORPHA:285 |
Dermatoosteolysis, Kirghizian Type |
|
Aplasia/Hypoplasia of the skin, Skin ulcer |
ORPHA:1657 |
Multiple Myeloma |
|
Anemia, Splenomegaly, Lymphadenopathy |
ORPHA:29073 |
Acrofacial Dysostosis, Palagonia Type |
|
Aplasia/Hypoplasia of the skin, Dermal atrophy |
ORPHA:1787 |
Brucellosis |
|
Cutaneous cyst, Erythematous papule, Hypersplenism, Leukopenia, Leukocytosis, Splenomegaly, Abnor... |
ORPHA:1304 |
Neuroendocrine Tumor Of The Rectum |
|
Hepatomegaly, Chronic noninfectious lymphadenopathy |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Hepatomegaly, Chronic noninfectious lymphadenopathy |
ORPHA:100082 |
Ablepharon-Macrostomia Syndrome |
|
Hypoplastic nipples, Thin skin |
OMIM:200110 |
Restrictive Dermopathy 1 |
|
Skin erosion, Thin skin |
OMIM:275210 |
Benign Schwannoma |
|
Allodynia |
ORPHA:252164 |
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis |
|
Abnormal myelination |
OMIM:617333 |
Microphthalmia, Syndromic 2 |
|
Cryptorchidism, Anophthalmia, Microphthalmia |
OMIM:300166 |
Warburg-Cinotti Syndrome |
|
Thin skin |
OMIM:618175 |
Multiple Osteochondromas |
|
Scapular exostoses, Rib exostoses, Osteochondroma, Chondrosarcoma |
ORPHA:321 |
Selective Igm Deficiency |
|
Decreased proportion of transitional B cells, Lymphadenitis, Decreased proportion of CD8-positive... |
ORPHA:331235 |
Familial Mediterranean Fever |
|
Ascites, Leukocytosis, Splenomegaly, Orchitis, Peritonitis, Pancreatitis, Lymphadenopathy |
ORPHA:342 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Anemia, Hepatosplenomegaly, Lymphadenopathy |
ORPHA:85408 |
Proteus Syndrome |
|
Thymus hyperplasia, Verrucous epidermal nevus, Neoplasm of the thymus, Capillary malformation, Me... |
ORPHA:744 |
Werner Syndrome |
|
Skin ulcer, Aplasia/Hypoplasia of the skin, Aplasia/Hypoplasia of the testes, Abnormal testis mor... |
ORPHA:902 |
Cherubism |
|
Submandibular lymph node enlargement |
OMIM:118400 |
Hennekam Syndrome |
|
Ascites, Lymphopenia, Splenomegaly, Lymphadenopathy, Pulmonary lymphangiectasia, Lymphangioma |
ORPHA:2136 |
Porphyria, Congenital Erythropoietic |
|
Atypical scarring of skin, Cholelithiasis, Splenomegaly, Hepatomegaly, Thrombocytopenia, Reduced ... |
OMIM:263700 |
Tolchin-Le Caignec Syndrome |
|
Cardiac rhabdomyoma, Osteochondroma |
OMIM:618971 |
Non-Specific Early-Onset Epileptic Encephalopathy |
|
Abnormal myelination |
ORPHA:442835 |
Sarcoidosis |
|
Enlarged lacrimal glands, Abnormal lymph node morphology, Parotitis, Leukopenia, Enlargement of p... |
ORPHA:797 |
Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Aplasia cutis congenita of scalp, Skin erosion, Atrophic scars, Milia, Scarring alopecia of scalp... |
ORPHA:158684 |
Microphthalmia With Limb Anomalies |
|
True anophthalmia, Cryptorchidism, Microphthalmia |
ORPHA:1106 |
Eec Syndrome |
|
Nevus, Decreased response to growth hormone stimulation test, Aplasia/Hypoplasia of the skin, Hyp... |
ORPHA:1896 |
Proboscis Lateralis |
|
Optic nerve hypoplasia, Anophthalmia, Microphthalmia |
ORPHA:141099 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Aplasia/Hypoplasia of the skin |
ORPHA:1979 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Thyroid C cell hyperplasia, Asymmetric, linear skin defects, Microphthalmia |
OMIM:300952 |
Vascular Ehlers-Danlos Syndrome |
|
Cigarette-paper scars, Melanocytic nevus, Cystocele, Cryptorchidism, Macule, Subcutaneous nodule,... |
ORPHA:286 |
Immunodeficiency 82 With Systemic Inflammation |
|
Reduced natural killer cell count, Hepatitis, Decreased proportion of naive T cells, Follicular h... |
OMIM:619381 |
Primary Sjögren Syndrome |
|
Normocytic anemia, Biliary cirrhosis, Skin ulcer, Parotitis, Chronic active hepatitis, Lymphopeni... |
ORPHA:289390 |
Fraser Syndrome |
|
Cryptorchidism, Anophthalmia, Microphthalmia |
ORPHA:2052 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Aplasia/Hypoplasia of the skin, Webbed neck, Nevus, Cryptorchidism |
ORPHA:2990 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Atypical scarring of skin, Skin erosion, Nevus, Milia, Aplasia cutis congenita, Anemia |
ORPHA:89842 |
Blau Syndrome |
|
Papule, Skin ulcer, Abnormality of the liver, Splenomegaly, Lymphadenopathy, Anemia, Abnormal sal... |
ORPHA:90340 |
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type |
|
Hypoplastic sweat glands, Hypoplastic pilosebaceous units |
OMIM:601345 |
Behçet Disease |
|
Splenomegaly, Orchitis, Pancreatitis, Lymphadenopathy, Subcutaneous nodule, Papule |
ORPHA:117 |
Chikungunya |
|
Cervical lymphadenopathy, Skin vesicle, Macule, Lymphadenopathy |
ORPHA:324625 |
Neuroendocrine Tumor Of Stomach |
|
Hepatomegaly, Iron deficiency anemia, Chronic noninfectious lymphadenopathy |
ORPHA:100075 |
Microphthalmia, Syndromic 6 |
|
Anterior hypopituitarism, Cryptorchidism, Anophthalmia, Microphthalmia |
OMIM:607932 |
Trichorhinophalangeal Syndrome, Type Ii |
|
Multiple long-bone exostoses, Rib exostoses, Osteochondroma, Osteoma, Scapular exostoses |
OMIM:150230 |
Cockayne Syndrome B |
|
Atypical scarring of skin, Hypoplasia of the iris, Dermal atrophy, Cryptorchidism, Splenomegaly, ... |
OMIM:133540 |
Ileal Neuroendocrine Tumor |
|
Iron deficiency anemia, Lymphadenopathy, Extrahepatic cholestasis |
ORPHA:100078 |
Aicardi-Goutieres Syndrome 7 |
|
Hepatitis, Pancytopenia, Splenomegaly, Hepatic steatosis, Hepatomegaly, Generalized lymphadenopat... |
OMIM:615846 |
Barber-Say Syndrome |
|
Breast aplasia, Aplasia/Hypoplasia of the skin, Hypoplastic nipples |
ORPHA:1231 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Abnormal salivary gland morphology, Abnormality of the submandibular glands, Enlargement of parot... |
ORPHA:79078 |
Autosomal Recessive Malignant Osteopetrosis |
|
Anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly |
ORPHA:667 |
Xeroderma Pigmentosum, Complementation Group A |
|
Dermal atrophy, Hypermelanotic macule, Erythematous papule, Verrucous epidermal nevus |
OMIM:278700 |
Dysosteosclerosis |
|
Aplasia/Hypoplasia of the skin |
ORPHA:1782 |
Sarcoidosis, Susceptibility To, 1 |
|
Enlarged lacrimal glands, Pancytopenia, Splenomegaly, Generalized lymphadenopathy, Hepatomegaly, ... |
OMIM:181000 |
Igg4-Related Kidney Disease |
|
Lymphadenitis, Abnormal mesentery morphology, Sialadenitis, Cholecystitis, Sclerosing cholangitis... |
ORPHA:449395 |
Crimean-Congo Hemorrhagic Fever |
|
Parotitis, Ascites, Leukopenia, Pancytopenia, Leukocytosis, Splenomegaly, Cholecystitis, Orchitis... |
ORPHA:99827 |
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency |
|
Abnormal myelination |
ORPHA:67045 |
Immunodeficiency 87 And Autoimmunity |
|
Cervical lymphadenopathy, Lymphopenia, Decreased CD4:CD8 ratio, Cholestasis, Ascites, Autoimmune ... |
OMIM:619573 |
Igg4-Related Ophthalmic Disease |
|
Sialadenitis, Orchitis, Eosinophilia, Abnormality of the anterior pituitary, Pancreatitis, Lympha... |
ORPHA:449563 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Parotitis, Microcytic anemia, Splenomegaly, Cardiomegaly, Hepatomegaly, Lymphadenopathy, Thromboc... |
OMIM:256040 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Atrophic scars, Milia, Aplasia cutis congenita, Aplasia cutis congenita on trunk or limbs, Anemia |
ORPHA:79396 |
Cutis Marmorata Telangiectatica Congenita |
|
Skin erosion, Ascites, Aplasia/Hypoplasia of the skin, Blue nevus, Multiple cafe-au-lait spots |
ORPHA:1556 |
Neuroendocrine Neoplasm Of Appendix |
|
Adrenocorticotropic hormone excess, Hepatomegaly, Ovarian neoplasm, Chronic noninfectious lymphad... |
ORPHA:100079 |
Xeroderma Pigmentosum, Complementation Group B |
|
Dermal atrophy, Microphthalmia |
OMIM:610651 |
Subacute Cutaneous Lupus Erythematosus |
|
Dermal atrophy, Annular cutaneous lesion |
ORPHA:163525 |
Epidermolysis Bullosa, Lethal Acantholytic |
|
Skin erosion, Aplasia cutis congenita |
OMIM:609638 |
Xeroderma Pigmentosum, Complementation Group D |
|
Dermal atrophy, Microphthalmia |
OMIM:278730 |
Multiple Endocrine Neoplasia Type 2 |
|
Thyroid C cell hyperplasia, Cervical lymphadenopathy, Pheochromocytoma, Neoplasm of the liver, Pa... |
ORPHA:653 |
Rothmund-Thomson Syndrome |
|
Aplastic anemia, Aplasia/Hypoplasia of the skin, Anemia, Neutropenia, Leukemia |
ORPHA:2909 |
Malignant Atrophic Papulosis |
|
Dermal atrophy, Peritonitis, Papule |
ORPHA:679 |
Plague |
|
Localized skin lesion, Lymphadenitis, Skin ulcer, Splenomegaly, Hepatomegaly, Enlarged mesenteric... |
ORPHA:707 |
Hallermann-Streiff Syndrome |
|
Dermal atrophy, Cryptorchidism, Abdominal situs inversus, Microphthalmia |
ORPHA:2108 |
Dyskeratosis Congenita, X-Linked |
|
Bone marrow hypocellularity, Dermal atrophy, Pancytopenia, Decreased testicular size, Leukopenia,... |
OMIM:305000 |
Marburg Hemorrhagic Fever |
|
Neutrophilia in presence of infection, Lymphopenia, Abnormal lymphocyte morphology, Leukopenia, R... |
ORPHA:99826 |
Monosomy 18Q |
|
Astrocytoma, Abnormal myelination |
ORPHA:1600 |
Systemic Lupus Erythematosus |
|
Leukopenia, Hemolytic anemia, Lymphadenopathy, Thrombocytopenia |
ORPHA:536 |
Pallister-Hall Syndrome |
|
Midline facial capillary hemangioma, Hypothalamic hamartoma, Osteochondroma |
ORPHA:672 |
Kindler Epidermolysis Bullosa |
|
Aplasia/Hypoplasia of the skin, Milia, Atypical scarring of skin, Anemia |
ORPHA:2908 |
Microphthalmia, Syndromic 1 |
|
Webbed neck, Cryptorchidism, Anophthalmia, Microphthalmia |
OMIM:309800 |
African Trypanosomiasis |
|
Hepatosplenomegaly, Splenomegaly, Lymphadenopathy, Abnormal prolactin level, Hepatomegaly, Jaundi... |
ORPHA:3385 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Astrocytosis, Abnormal myelination |
ORPHA:309854 |
Oculoectodermal Syndrome |
|
Preauricular skin tag, Supernumerary nipple, Epidermal nevus, Pineal cyst, Aplasia cutis congenita |
OMIM:600268 |
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity |
|
Abnormal CNS myelination, Abnormal myelination, Gliosis |
OMIM:620371 |
Leptospirosis |
|
Hepatitis, Lymphadenopathy, Thrombocytopenia, Hepatomegaly, Jaundice |
ORPHA:509 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Abnormal myelination, Delayed myelination, Gliosis |
ORPHA:404454 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Abnormal peripheral myelination, Abnormal myelination, Mixed demyelinating and axonal polyneuropathy |
ORPHA:466768 |
Craniofacial Microsomia 1 |
|
Preauricular skin tag, Anophthalmia, Microphthalmia |
OMIM:164210 |
Toriello-Lacassie-Droste Syndrome |
|
Aplasia/Hypoplasia of the skin |
ORPHA:3339 |
Cockayne Syndrome Type 3 |
|
Astrocytosis, Abnormal myelination, Demyelinating peripheral neuropathy |
ORPHA:90324 |
Dermatomyositis |
|
Abnormal eosinophil morphology, Skin ulcer, Aplasia/Hypoplasia of the skin, Gottron's papules, Pa... |
ORPHA:221 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Aplasia/Hypoplasia of the skin, Cryptorchidism |
ORPHA:2658 |
Kindler Syndrome |
|
Spotty hypopigmentation, Dermal atrophy, Diffuse skin atrophy |
OMIM:173650 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Atrophic scars, Milia, Iron deficiency anemia, Aplasia cutis congenita, Anemia |
ORPHA:79408 |
Degcags Syndrome |
|
Abnormal myelination |
OMIM:619488 |
Orofaciodigital Syndrome Type 14 |
|
Abnormal myelination |
ORPHA:434179 |