Ollier Disease |
|
Chondrosarcoma, Visceral angiomatosis, Subcutaneous nodule, Skin ulcer, Multiple enchondromatosis... |
ORPHA:296 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Abnormal hemoglob... |
ORPHA:90039 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... |
OMIM:615285 |
Necrobiosis Lipoidica |
|
Indurated nodule, Skin nodule, Erythema, Skin ulcer, Squamous cell carcinoma, Atrophic scars, Ann... |
ORPHA:542592 |
Primary Myelofibrosis |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Thrombocytosis, Portal hypertension, He... |
ORPHA:824 |
Classic Mycosis Fungoides |
|
Hepatomegaly, Cutaneous T-cell lymphoma, Splenomegaly, Erythema, Lymphoma, Hypopigmented skin pat... |
ORPHA:2584 |
Fetal Cytomegalovirus Syndrome |
|
Splenomegaly, Anemia, Hepatomegaly |
ORPHA:294 |
Leishmaniasis |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Thromb... |
ORPHA:507 |
Diamond-Blackfan Anemia 19 |
|
Erythroid hypoplasia, Steroid-responsive anemia, Anemia |
OMIM:618312 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Abnormal hemoglobin, Short neck, Abnormal form of the vertebral bodies, Melanocytic nevus, Anemia... |
ORPHA:3319 |
Reticular Dysgenesis |
|
Abnormality of neutrophils, Skin ulcer, Weight loss, Leukopenia, Failure to thrive, Aplasia/Hypop... |
ORPHA:33355 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Pallor, Anemia |
ORPHA:46532 |
Mantle Cell Lymphoma |
|
Splenomegaly, Weight loss, B-cell lymphoma, Lymphadenopathy |
ORPHA:52416 |
Transient Erythroblastopenia Of Childhood |
|
Transient erythroblastopenia, Anemia |
OMIM:227050 |
Isolated Agammaglobulinemia |
|
Failure to thrive, Abnormality of the tonsils, Abnormality of neutrophils, Thrombocytopenia, Abno... |
ORPHA:229717 |
Beta-Thalassemia |
|
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Hepatitis, ... |
ORPHA:848 |
Dermatofibrosarcoma Protuberans |
|
Subcutaneous nodule, Erythema, Skin ulcer, Neoplasm of the skin, Fibrosarcoma |
ORPHA:31112 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Subcutaneous nodule, Hepa... |
OMIM:612840 |
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia |
|
Scoliosis, Anemia |
ORPHA:2802 |
X-Linked Agammaglobulinemia |
|
Failure to thrive, Abnormality of the tonsils, Thrombocytopenia, Abnormality of the lymphatic sys... |
ORPHA:47 |
Anemia, Sideroblastic, 4 |
|
Abnormal erythrocyte morphology, Sideroblastic anemia, Refractory anemia with ringed sideroblasts |
OMIM:182170 |
Undifferentiated Pleomorphic Sarcoma |
|
Abnormal peritoneum morphology, Soft tissue sarcoma, Weight loss |
ORPHA:2023 |
Meige Disease |
|
Absence of lymph node germinal center, Skin ulcer, Atypical scarring of skin, Angiosarcoma, Skin ... |
ORPHA:90186 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Pancytopenia, Microcytic anemia, Elbow flexion contracture, Pyoderma gangrenosum, Knee flexion co... |
OMIM:604416 |
Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Skin ulcer, Hepatosplenomegaly, Weight loss, Erythematous plaque, Panniculitis, Hemophagocytosis,... |
ORPHA:86884 |
Diamond-Blackfan Anemia 17 |
|
Anemia |
OMIM:617409 |
Hemoglobin H Disease |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
Rhabdoid Tumor |
|
Renal neoplasm, Subcutaneous nodule, Lymphadenopathy, Neoplasm of the central nervous system, Ane... |
ORPHA:69077 |
Beta-Thalassemia Intermedia |
|
Increased HbA2 hemoglobin, Hepatomegaly, Extramedullary hematopoiesis, Anemia of inadequate produ... |
ORPHA:231222 |
Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Refractory anemia with ringed siderob... |
OMIM:133180 |
Juvenile Hyaline Fibromatosis |
|
Aplasia/Hypoplasia of the skin, Progressive flexion contractures, Subcutaneous nodule, Gingival f... |
ORPHA:2028 |
Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Weight loss, Mastocytos... |
ORPHA:66661 |
Infantile Myofibromatosis |
|
Benign neoplasm of the central nervous system, Neoplasm of the pancreas, Abnormal sacrum morpholo... |
ORPHA:2591 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Myelodysplasia, Microcytic anemia, Hypersplenism, Splenome... |
ORPHA:846 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Abnormal hemoglobin, Anemia |
ORPHA:231249 |
Desmoplastic Small Round Cell Tumor |
|
Neoplasm of the pancreas, Hepatomegaly, Abnormal peritoneum morphology, Testicular neoplasm, Cach... |
ORPHA:83469 |
Hereditary Spherocytosis |
|
Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Spleno... |
ORPHA:822 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery... |
OMIM:603902 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Skin ulcer, Squamous cell carcinoma, T lymphocytopenia, Squamous cell carcinoma of the vulva, B l... |
ORPHA:217390 |
Chilblain Lupus |
|
Erythematous papule, Skin ulcer, Chronic myelomonocytic leukemia |
ORPHA:90280 |
Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia, Myelodysplasia |
OMIM:162830 |
Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Failure to thr... |
ORPHA:231226 |
Beta-Thalassemia Major |
|
Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, ... |
ORPHA:231214 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Hepatomegaly, B-cell lymphoma, Splenomegaly, Lymphoma, Breast carcinoma, Lymphadenopathy, Weight ... |
ORPHA:86893 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Myelodysplasia, Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thr... |
ORPHA:231401 |
Hyperkeratosis Lenticularis Perstans |
|
Aplasia/Hypoplasia of the skin, Skin ulcer, Squamous cell carcinoma, Basal cell carcinoma, Papule |
ORPHA:409 |
Acute Myelomonocytic Leukemia |
|
Eosinophilia, Leukocytosis, Weight loss, Anemia, Pallor, Thrombocytopenia |
ORPHA:517 |
Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
Li-Fraumeni Syndrome |
|
Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ... |
OMIM:151623 |
Myofibromatosis, Infantile, 1 |
|
Fibroma, Myofibromatosis |
OMIM:228550 |
Prolidase Deficiency |
|
Hepatomegaly, Petechiae, Elevated circulating aspartate aminotransferase concentration, Thrombocy... |
OMIM:170100 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Thrombocytosis, Anemia of ... |
ORPHA:75564 |
Pyoderma Gangrenosum |
|
Myelodysplasia, Skin ulcer, Atrophic scars, Skin vesicle, Myeloid leukemia, Papule |
ORPHA:48104 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Small for gestational age, Anemia, Increased ... |
OMIM:617021 |
Immunodeficiency 16 |
|
Splenomegaly, Pancytopenia, Kaposi's sarcoma, Coombs-positive hemolytic anemia |
OMIM:615593 |
Kaposi Sarcoma |
|
Macule, Generalized lymphadenopathy, Lymphoproliferative disorder, Hypermelanotic macule, Abnorma... |
ORPHA:33276 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Weight loss, Anemia |
ORPHA:100024 |
Acrogeria |
|
Aplasia/Hypoplasia of the skin, Lipoatrophy, Skin ulcer, Excessive wrinkled skin, Thin skin, Scol... |
ORPHA:2500 |
Reticuloendotheliosis, X-Linked |
|
Jaundice, Lymphadenopathy, Anemia, Hepatosplenomegaly |
OMIM:312500 |
Follicular Lymphoma |
|
Abnormal peritoneum morphology, Splenomegaly, Skin nodule, Lymphoma, Mediastinal lymphadenopathy,... |
ORPHA:545 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Lymphopenia, Aplastic anemia, Eosinophilia, Myelodysplasia, Pyoderma gang... |
ORPHA:486 |
Free Sialic Acid Storage Disease |
|
Hepatomegaly, Failure to thrive in infancy, Splenomegaly, Skin ulcer, Ascites |
ORPHA:834 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Takayasu Arteritis |
|
Anemia, Subcutaneous nodule, Skin ulcer, Weight loss |
ORPHA:3287 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Fanconi Anemia, Complementation Group G |
|
Myelodysplasia, Anemia, Neutropenia, Multiple cafe-au-lait spots, Leukemia, Thrombocytopenia |
OMIM:614082 |
Chromosome 5Q Deletion Syndrome |
|
Erythroid hypoplasia, Myelodysplasia, Anemia of inadequate production, Refractory macrocytic anemia |
OMIM:153550 |
Junctional Epidermolysis Bullosa Inversa |
|
Localized skin lesion, Squamous cell carcinoma, Atrophic scars, Basal cell carcinoma, Cutaneous m... |
ORPHA:79405 |
Sweet Syndrome |
|
Acute myeloid leukemia, Neutrophilia, Hematological neoplasm, Skin nodule, Leukocytosis, Pyoderma... |
ORPHA:3243 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abnormal CD4:CD8 ratio, Splenomegaly, Pyoderma gangrenosum, Neutropenia, Lymphadenopathy, B lymph... |
OMIM:150550 |
Milroy Disease |
|
Angiosarcoma, Neoplasm of the skin, Cellulitis |
ORPHA:79452 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Squamous cell carcinoma, Prostate cancer, Neutropenia, B-cell lymphoma, Myelodysplasia, T-cell ly... |
ORPHA:158057 |
Proteus Syndrome |
|
Epidermal nevus, Kyphoscoliosis, Splenomegaly, Spinal canal stenosis, Multiple lipomas, Nevus, Li... |
OMIM:176920 |
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Short neck, Microcytic anemia, Hepatosplenomegaly, Lymphadenopathy, Scoliosis, Fibroma |
OMIM:619750 |
Werner Syndrome |
|
Renal neoplasm, Aplasia/Hypoplasia of the skin, Lipoatrophy, Lipodystrophy, Acral lentiginous mel... |
ORPHA:902 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Hepatomegaly, Lymphoproliferative disorder, Autoimmune thrombocyt... |
OMIM:614470 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... |
OMIM:615631 |
Acquired Purpura Fulminans |
|
Macule, Erythematous macule, Pyoderma gangrenosum, Neoplasm, Macular purpura, Hepatic failure, Th... |
ORPHA:49566 |
Brooke-Spiegler Syndrome |
|
Skin appendage neoplasm, Salivary gland neoplasm, Skin-colored papule, Skin nodule, Skin ulcer, B... |
ORPHA:79493 |
Late-Onset Junctional Epidermolysis Bullosa |
|
Localized skin lesion, Squamous cell carcinoma, Atrophic scars, Basal cell carcinoma, Cutaneous m... |
ORPHA:79406 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia |
OMIM:206400 |
Acquired Ichthyosis |
|
Lymphoma, Erythema, Neoplasm, Multiple myeloma, Dry skin, Papule, Sarcoma |
ORPHA:454 |
Dracunculiasis |
|
Subcutaneous nodule, Flexion contracture, Skin ulcer, Cellulitis |
ORPHA:231 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
Tumor Predisposition Syndrome 4 |
|
Glioma, Meningioma, Breast carcinoma, Sarcoma |
OMIM:609265 |
Sarcoma, Synovial |
|
Synovial sarcoma |
OMIM:300813 |
Alveolar Soft Part Sarcoma |
|
Alveolar soft part sarcoma |
OMIM:606243 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
Myelodysplasia, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
Osteopetrosis, Autosomal Recessive 2 |
|
Pancytopenia, Extramedullary hematopoiesis, Hepatosplenomegaly, Anemia, Thrombocytopenia |
OMIM:259710 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Pulmonary Blastoma |
|
Pleuropulmonary blastoma, Weight loss |
ORPHA:64741 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... |
ORPHA:444463 |
Schnitzler Syndrome |
|
Macule, Hepatomegaly, Splenomegaly, Leukocytosis, Lymphoma, Lymphadenopathy, Papule, Anemia |
ORPHA:37748 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Sideroblastic anemia, Hypochromia, Decreased mean corpuscular volume, Anemia |
OMIM:205950 |
Immunodeficiency 69 |
|
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Failure to thrive, ... |
OMIM:618963 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Splenomegaly, Lymphoma, Lymphadenopathy, Ascites, Anemia |
ORPHA:100025 |
Cyanosis, Transient Neonatal |
|
Reticulocytosis, Hepatomegaly, Jaundice, Methemoglobinemia, Anemia |
OMIM:613977 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
Self-Improving Dystrophic Epidermolysis Bullosa |
|
Skin erosion, Squamous cell carcinoma, Atrophic scars, Basal cell carcinoma, Cutaneous melanoma, ... |
ORPHA:79411 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Urticarial plaque, Hepatomegaly, Pancytopenia, Elevated hepatic transaminase, Lymphoproliferative... |
OMIM:615688 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Lymphadenopa... |
ORPHA:3226 |
Aicardi Syndrome |
|
Skin tags, Block vertebrae, Hiatus hernia, Hemivertebrae, Teratoma, Carcinoma, Lipoma, Scoliosis,... |
OMIM:304050 |
Hyperbilirubinemia, Shunt, Primary |
|
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... |
OMIM:237800 |
Acute Monoblastic/Monocytic Leukemia |
|
Acute monocytic leukemia, Leukocytosis, Subcutaneous nodule, Cervical lymphadenopathy, Weight los... |
ORPHA:514 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Eosinophilia, Lymphoma, Skin ulcer, Scoliosis, Cellulitis, Skin vesicle, Papule |
ORPHA:2314 |
Galactose Epimerase Deficiency |
|
Splenomegaly, Jaundice, Weight loss, Hepatomegaly |
ORPHA:79238 |
Acute Erythroid Leukemia |
|
Pancytopenia, Erythroid hypoplasia, Leukopenia, Refractory anemia with ringed sideroblasts, Bone ... |
ORPHA:318 |
Neutrophilic Dermatosis, Acute Febrile |
|
Panniculitis, Erythema, Pyoderma gangrenosum, Anemia |
OMIM:608068 |
Flynn-Aird Syndrome |
|
Cachexia, Kyphosis, Skin ulcer, Dermal atrophy, Scoliosis |
ORPHA:2047 |
Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
Fibrodysplasia Ossificans Progressiva |
|
Spinal rigidity, Subcutaneous nodule, Failure to thrive, Abnormal vertebral morphology, Anemia |
ORPHA:337 |
Immunodeficiency 27A |
|
Splenomegaly, Leukocytosis, Hepatosplenomegaly, Lymphadenopathy, Enlarged mesenteric lymph node, ... |
OMIM:209950 |
Dyskeratosis Congenita |
|
Macule, Neoplasm of the pancreas, Hepatomegaly, Aplasia/Hypoplasia of the skin, Hypermelanotic ma... |
ORPHA:1775 |
Diastrophic Dysplasia |
|
Hip contracture, Lumbar hyperlordosis, Small for gestational age, Cervical kyphosis, Kyphoscolios... |
OMIM:222600 |
Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, ... |
ORPHA:79303 |
Non-Epidermolytic Palmoplantar Keratoderma |
|
Papule, Erythema, Skin ulcer |
ORPHA:2337 |
Maffucci Syndrome |
|
Neoplasm of the adrenal cortex, Chondrosarcoma, Astrocytoma, Hemangiomatosis, Neoplasm of the par... |
ORPHA:163634 |
Refractory Anemia |
|
Normocytic anemia, Macrocytic anemia, Single lineage myelodysplasia, Anemia of inadequate product... |
ORPHA:98826 |
Cryoglobulinemic Vasculitis |
|
Hepatomegaly, Viral hepatitis, Splenomegaly, Mediastinal lymphadenopathy, Skin ulcer, Abnormality... |
ORPHA:91138 |
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form |
|
Skin erosion, Localized skin lesion, Erythematous papule, Atypical scarring of skin, Squamous cel... |
ORPHA:79410 |
Ghosal Hematodiaphyseal Dysplasia |
|
Splenomegaly, Anemia, Abnormal form of the vertebral bodies |
ORPHA:1802 |
Sandhoff Disease |
|
Splenomegaly, Failure to thrive, Kyphosis, Hepatomegaly |
ORPHA:796 |
Reticulum Cell Sarcoma |
|
Neoplasm, Sarcoma |
OMIM:267730 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Myelodysplasia, Anemia, Increased mean corpuscular volume, ... |
OMIM:619041 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Pallor, Myeloid leukemia, Hepatomegaly, Neutrophilia, Myelodysplasia, Leukocyt... |
ORPHA:98849 |
Chronic Granulomatous Disease |
|
Macule, Hepatomegaly, Liver abscess, Hypermelanotic macule, Abnormality of neutrophils, Splenomeg... |
ORPHA:379 |
Aggressive Systemic Mastocytosis |
|
Pancytopenia, Portal hypertension, Hematological neoplasm, Hypersplenism, Thrombocytopenia, Leuko... |
ORPHA:98850 |
Fusariosis |
|
Fasciitis, Hematological neoplasm, Abnormality of the spleen, Peritonitis, Subcutaneous nodule, N... |
ORPHA:228119 |
Trimethylaminuria |
|
Splenomegaly, Anemia, Neutropenia |
OMIM:602079 |
Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... |
ORPHA:2585 |
Felty Syndrome |
|
Hepatomegaly, Cellulitis, Thrombocytopenia, Subcutaneous nodule, Splenomegaly, Lymphoma, Lymphade... |
ORPHA:47612 |
Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Abnormal hemoglobin, Splenomegaly, Pallor, Anemia |
ORPHA:163596 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... |
ORPHA:766 |
Proliferating Trichilemmal Cyst |
|
Epidermoid cyst, Skin ulcer |
ORPHA:492 |
Lichen Planopilaris |
|
Hypopigmented skin patches, Skin ulcer, Hepatitis, Dermal atrophy, Neoplasm of the oral cavity, P... |
ORPHA:525 |
Squamous Cell Carcinoma Of The Anal Canal |
|
Neoplasm of the skeletal system, Skin ulcer, Lymphadenopathy, Neoplasm of the lung, Neoplasm of t... |
ORPHA:424019 |
Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Scarring alopecia of scalp, Atrophic scars, Aplasia cutis congenita, Enamel hypoplasia, Milia, An... |
ORPHA:79402 |
Progressive Osseous Heteroplasia |
|
Macule, Hypermelanotic macule, Subcutaneous nodule, Papule, Sarcoma |
ORPHA:2762 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Autoimmune hemolytic anemia, Pyoderma gangrenosum, Thrombocytopenia |
OMIM:616576 |
Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Failure to thrive, Autoimmune thrombocytopenia, Spl... |
OMIM:617514 |
Hypereosinophilic Syndrome, Idiopathic |
|
Myeloproliferative disorder, Splenomegaly, Eosinophilia, Hepatomegaly |
OMIM:607685 |
Wilson Disease |
|
Back pain, Hepatomegaly, Acute hepatic failure, Elevated hepatic transaminase, Splenomegaly, Jaun... |
ORPHA:905 |
Rosaï-Dorfman Disease |
|
Erythema, Subcutaneous nodule, Lymphadenopathy, Papule, Anemia |
ORPHA:158014 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenom... |
OMIM:619375 |
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability |
|
Hyperlordosis, Spinal rigidity, Kyphosis, Increased adipose tissue, Scoliosis |
OMIM:617404 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Pallor, Poikilocytosis, Elevated h... |
OMIM:615234 |
X-Linked Sideroblastic Anemia |
|
Elevated hepatic transaminase, Splenomegaly, Pallor, Anemia |
ORPHA:75563 |
Multicentric Reticulohistiocytosis |
|
Skin nodule, Cachexia, Histiocytosis |
ORPHA:139436 |
Aplasia Cutis Congenita |
|
Aplasia cutis congenita over the scalp vertex, Skin ulcer, Congenital localized absence of skin |
ORPHA:1114 |
Prolidase Deficiency |
|
Hepatomegaly, Aplasia/Hypoplasia of the skin, Splenomegaly, Erythema, Skin ulcer, Thin skin, Dry ... |
ORPHA:742 |
Immunodeficiency 104 |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, T lymphocytopenia, Failure to thrive secondary to re... |
OMIM:608971 |
Livedoid Vasculopathy |
|
Pancytopenia, Leukocytosis, Skin ulcer, Atrophic scars, Macular purpura, Ecchymosis, Erythematous... |
ORPHA:542643 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Leukocytosis, Anemia |
OMIM:619398 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Myelodysplasia, Abnormal erythrocyte mor... |
ORPHA:86841 |
Acromesomelic Dysplasia, Maroteaux Type |
|
Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Vertebral... |
ORPHA:40 |
Congenital Toxoplasmosis |
|
Macule, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive in infancy, Cardiomegaly, ... |
ORPHA:858 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Conjunctival hamartoma, Skin ulcer, Weight loss |
ORPHA:312 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Splenomegaly, Failure to thrive in infancy, Hepatomegaly |
OMIM:619175 |
Progressive Familial Intrahepatic Cholestasis |
|
Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Neoplasm, Failure to thrive |
ORPHA:172 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Pappenheimer bodies, Sideroblastic anemia, Microcytic anemia, Hyperlordosis, Pallor, Hypochromic ... |
OMIM:600462 |
Isolated Congenital Hypoglossia/Aglossia |
|
Hamartoma, Weight loss |
ORPHA:141152 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Erythematous macule, Autoimmune... |
OMIM:615559 |
Classic Hodgkin Lymphoma |
|
Hepatomegaly, Splenomegaly, Lymphoma, Lymphadenopathy, Weight loss, Neoplasm, Bone marrow hypocel... |
ORPHA:391 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Pigment gallstones, Microcytic anemia, Abnormality of the sple... |
ORPHA:232 |
Familial Keratoacanthoma |
|
Subcutaneous nodule, Skin ulcer, Neoplasm, Adenoma sebaceum, Papilloma, Papule |
ORPHA:493 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy |
OMIM:618852 |
Tufted Angioma |
|
Petechiae, Thrombocytopenia, Localized skin lesion, Neoplasm of the skin, Facial hemangioma, Hema... |
ORPHA:1063 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased proportion of CD4-positive T cells, Lymphoproliferative disorder, B-cell lymphoma, Auto... |
OMIM:300853 |
Bone Dysplasia, Lethal Holmgren Type |
|
Hepatomegaly, Redundant neck skin, Short neck, Weight loss, Hernia, Failure to thrive, Anemia |
ORPHA:1842 |
Myosclerosis, Autosomal Recessive |
|
Lumbar hyperlordosis, Thoracolumbar scoliosis, Spinal rigidity, Neck joint contracture, Achilles ... |
OMIM:255600 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenome... |
OMIM:616860 |
Pgm3-Cdg |
|
Hemolytic anemia, Failure to thrive, Abnormal proportion of CD8-positive T cells, Eosinophilia, A... |
ORPHA:443811 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8 |
|
Hip contracture, Hyperlordosis, Kyphosis, Elbow flexion contracture, Knee flexion contracture, Sc... |
OMIM:600175 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Thr... |
OMIM:603552 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia |
OMIM:610539 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hemophagocytosis, Granulocytopenia, Anemia, Hepatosplenomegaly |
OMIM:608898 |
Melanoma-Pancreatic Cancer Syndrome |
|
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Melano... |
OMIM:606719 |
Neuroblastoma, Susceptibility To, 1 |
|
Abdominal mass, Ganglioneuroblastoma, Skin nodule, Weight loss, Neuroblastoma, Failure to thrive,... |
OMIM:256700 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hypochromic... |
OMIM:259720 |
Gray Platelet Syndrome |
|
Splenomegaly, Myelodysplasia, Thrombocytopenia |
ORPHA:721 |
Nephronophthisis |
|
Anemia |
ORPHA:655 |
Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
Niemann-Pick Disease, Type B |
|
Hepatomegaly, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly, Sea-blue histiocytosis, Anemia |
OMIM:607616 |
Immunodeficiency 84 |
|
Splenomegaly, B lymphocytopenia, B-cell lymphoma |
OMIM:619437 |
Pelvic Hypoplasia With Lower-Limb Arthrogryposis |
|
Hip contracture, Lumbar hyperlordosis, Knee flexion contracture, Congenital foot contractures, Sc... |
OMIM:602484 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... |
OMIM:202700 |
Laryngeal Neuroendocrine Tumor |
|
Neuroendocrine neoplasm, Chronic noninfectious lymphadenopathy, Neoplasm of the larynx, Weight loss |
ORPHA:100083 |
Peripheral Primitive Neuroectodermal Tumor |
|
Neoplasm of the pancreas, Back pain, Abnormal thoracic spine morphology, Brain neoplasm, Pelvic m... |
ORPHA:370348 |
Congenital Factor Xii Deficiency |
|
Penetrating foot ulcers |
ORPHA:330 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Acute myeloid leukemia, Refractory anemia, Myelodysplasia, Lymphoma, Leukopenia, Monocytosis, Bon... |
OMIM:616871 |
Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto... |
OMIM:159550 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i... |
OMIM:619220 |
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Acral ulceration, Skin ulcer |
ORPHA:139578 |
Eosinophilic Fasciitis |
|
Macule, Fasciitis, Abnormal eosinophil morphology, Eosinophilia, Subcutaneous nodule, Weight loss... |
ORPHA:3165 |
Dermatomyositis |
|
Aplasia/Hypoplasia of the skin, Abnormal eosinophil morphology, Gastrointestinal stroma tumor, Er... |
ORPHA:221 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Hyperlordosis, Spinal rigidity, Kyphosis, Short neck, Flexion contracture, Scoliosis |
OMIM:300718 |
Ewing Sarcoma |
|
Ewing sarcoma |
OMIM:612219 |
Wiskott-Aldrich Syndrome |
|
Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytopenia, Lymphoma, ... |
ORPHA:906 |
Apc-Related Attenuated Familial Adenomatous Polyposis |
|
Neoplasm of the pancreas, Astrocytoma, Epidermoid cyst, Adrenocortical carcinoma, Pilomatrixoma, ... |
ORPHA:247806 |
Gardner Syndrome |
|
Neoplasm of the pancreas, Astrocytoma, Epidermoid cyst, Brain neoplasm, Hepatoblastoma, Adrenocor... |
ORPHA:79665 |
Majeed Syndrome |
|
Hepatomegaly, Cachexia, Congenital hypoplastic anemia, Splenomegaly, Leukocytosis, Flexion contra... |
ORPHA:77297 |
Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Refractory anemia with ringed sideroblasts, Redu... |
OMIM:619523 |
Chilblain Lupus 1 |
|
Skin ulcer |
OMIM:610448 |
Polycythemia Vera |
|
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... |
OMIM:619824 |
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection |
|
Pyoderma gangrenosum |
OMIM:619986 |
Nut Midline Carcinoma |
|
Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Neur... |
ORPHA:443167 |
Amed Syndrome, Digenic |
|
Acute myeloid leukemia, Myelodysplasia, Anemia, Leukopenia, Bone marrow hypocellularity, Failure ... |
OMIM:619151 |
Nodular Non-Suppurative Panniculitis |
|
Hepatomegaly, Aplasia/Hypoplasia of the skin, Splenomegaly, Subcutaneous nodule, Erythema, Weight... |
ORPHA:33577 |
Neuropathy, Hereditary Sensory, Type Iic |
|
Acral ulceration |
OMIM:614213 |
Bone Marrow Failure Syndrome 6 |
|
Squamous cell carcinoma of the tongue, Persistence of hemoglobin F, Increased mean corpuscular vo... |
OMIM:618849 |
Aicardi-Goutieres Syndrome 6 |
|
Splenomegaly, Hemolytic anemia, Thrombocytopenia, Hepatomegaly |
OMIM:615010 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Anemia, Hepatosplenomegaly |
OMIM:273680 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Anemia, Hyperlordosis |
ORPHA:1192 |
Acute Radiation Syndrome |
|
Skin ulcer, Dermal atrophy, Scaling skin, Granulocytopenia, Lymphopenia, Thrombocytopenia |
ORPHA:454831 |
Limited Cutaneous Systemic Sclerosis |
|
Joint contracture of the hand, Foot joint contracture, Hypopigmented skin patches, Skin ulcer |
ORPHA:220402 |
Osteopetrosis, Autosomal Recessive 8 |
|
Hepatomegaly, Splenomegaly, Anemia, Failure to thrive, Thrombocytopenia |
OMIM:615085 |
Rigid Spine Syndrome |
|
Hip contracture, Hyperlordosis, Spinal rigidity, Elbow flexion contracture, Hamstring contracture... |
ORPHA:97244 |
Toxic Epidermal Necrolysis |
|
Macule, Acute hepatic failure, Elevated hepatic transaminase, Thrombocytopenia, Erythema, Skin ul... |
ORPHA:537 |
Bazex Syndrome |
|
Neoplasm, Scaling skin, Lung adenocarcinoma, Anemia, Liposarcoma |
ORPHA:166113 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Elevated hepatic transaminase, Neutrophilia, Liver abscess, Abnormality of the pancreas, Abnormal... |
ORPHA:54251 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Anemia |
OMIM:611283 |
Cowden Syndrome |
|
Subcutaneous nodule, Hamartomatous polyposis, Neoplasm of the central nervous system, Neoplasm, P... |
ORPHA:201 |
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
|
Os odontoideum, Lumbar hyperlordosis, Spondylolisthesis at L5-S1, Atlantoaxial instability, Spond... |
OMIM:600561 |
Osteopetrosis, Autosomal Recessive 3 |
|
Extramedullary hematopoiesis, Anemia, Hepatosplenomegaly |
OMIM:259730 |
Thrombocytopenia 5 |
|
Petechiae, Thrombocytopenia, B Acute Lymphoblastic Leukemia, Increased mean corpuscular volume, N... |
OMIM:616216 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Pancytopenia, Splenomegaly, Panniculitis, Hemophagocytosis, Subcutaneous panniculitis-like T-cell... |
OMIM:618398 |
Wolman Disease |
|
Hepatomegaly, Bone-marrow foam cells, Cachexia, Splenomegaly, Hepatic failure, Ascites, Anemia |
ORPHA:75233 |
Sea-Blue Histiocyte Disease |
|
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating... |
OMIM:269600 |
Immunodeficiency 76 |
|
B-cell lymphoma, Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia |
OMIM:619164 |
Thymoma |
|
Aplastic anemia, Pure red cell aplasia, Neoplasm of head and neck, Imbalanced hemoglobin synthesi... |
ORPHA:99867 |
Fanconi Anemia, Complementation Group T |
|
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia |
OMIM:616435 |
Hemochromatosis, Type 2B |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Cirrhosis, Anemia |
OMIM:613313 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion |
OMIM:183350 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Increased mean platelet volu... |
OMIM:314050 |
Oslam Syndrome |
|
Neoplasm, Anemia, Osteosarcoma |
OMIM:165660 |
Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno... |
ORPHA:35858 |
Familial Adenomatous Polyposis 1 |
|
Astrocytoma, Epidermoid cyst, Adrenocortical carcinoma, Fibroadenoma of the breast, Medulloblasto... |
OMIM:175100 |
Basal Cell Nevus Syndrome 2 |
|
Angiofibromas, Palmar pits, Plantar pits, Neurofibroma, Medulloblastoma, Basal cell carcinoma, Me... |
OMIM:620343 |
Erythrocytosis, Familial, 1 |
|
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin |
OMIM:133100 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Small for gestational age, Anemia of inadequate ... |
OMIM:224120 |
Hypertriglyceridemia, Transient Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Failure to thrive, H... |
OMIM:614480 |
Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Lymphoproliferative disorder, B-cell lym... |
OMIM:613011 |
Terminal Osseous Dysplasia |
|
Multiple joint contractures, Camptodactyly of finger, Localized skin lesion, Camptodactyly of toe... |
OMIM:300244 |
Refractory Celiac Disease |
|
Normocytic anemia, Elevated hepatic transaminase, Macrocytic anemia, Microcytic anemia, Increased... |
ORPHA:398063 |
Cronkhite-Canada Syndrome |
|
Hepatomegaly, Cachexia, Splenomegaly, Hamartomatous polyposis, Neoplasm, Anemia |
ORPHA:2930 |
Polyarteritis Nodosa |
|
Erythema, Subcutaneous nodule, Skin ulcer, Weight loss |
ORPHA:767 |
Osteopetrosis, Autosomal Recessive 4 |
|
Reticulocytosis, Hepatomegaly, Petechiae, Splenomegaly, Anemia, Sclerotic vertebral endplates, Th... |
OMIM:611490 |
Cold Agglutinin Disease |
|
Back pain, Hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy, Pallor |
ORPHA:56425 |
Familial Multiple Nevi Flammei |
|
Hypermelanotic macule, Skin ulcer, Scoliosis, Nevus flammeus, Papule |
ORPHA:624 |
Erythrocytosis, Familial, 2 |
|
Increased hemoglobin, Increased red blood cell mass, Increased hematocrit, Hemangioma, Failure to... |
OMIM:263400 |
Aplasia Cutis-Myopia Syndrome |
|
Aplasia cutis congenita, Skin ulcer |
ORPHA:1117 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase... |
OMIM:616689 |
Pfapa Syndrome |
|
Splenomegaly, Weight loss, Lymphadenopathy, Hepatomegaly |
ORPHA:42642 |
Aredyld Syndrome |
|
Hepatomegaly, Lipoatrophy, Abnormal dental enamel morphology, Cachexia, Splenomegaly, Refractory ... |
ORPHA:1133 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Omphalocele, Increased body mass index, Increased body weight, Dry skin, Anemia |
OMIM:614450 |
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
|
Aplasia/Hypoplasia of the skin, Thin skin, Skin ulcer, Purpura |
ORPHA:743 |
Large Congenital Melanocytic Nevus |
|
Congenital giant melanocytic nevus, Rhabdomyosarcoma, Subcutaneous nodule, Hypopigmented skin pat... |
ORPHA:626 |
Myopathic Ehlers-Danlos Syndrome |
|
Failure to thrive, Multiple joint contractures, Foot joint contracture, Shoulder flexion contract... |
ORPHA:536516 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis |
OMIM:224100 |
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Erythema, Skin ulcer, Neoplasm of the lung, Melanoma, Neoplasm of the skin, Skin fissure |
ORPHA:659 |
Eosinophilia, Familial |
|
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia |
OMIM:131400 |
Catastrophic Antiphospholipid Syndrome |
|
Thrombocytopenia, Coombs-positive hemolytic anemia, Microangiopathic hemolytic anemia, Skin ulcer |
ORPHA:464343 |
Immunodeficiency 109 With Lymphoproliferation |
|
Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Hodgkin lymphoma, Absent circulating B c... |
OMIM:620282 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Hyperlordosis, Short neck, Kyphosis, Fused cervical vertebrae, Abnormal reticulocyte morphology |
ORPHA:2522 |
Buerger Disease |
|
Skin ulcer |
ORPHA:36258 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Pancytopenia, Cachexia, Abnormality of the spleen, Thrombocytopenia, Splenomegaly, Skin ulcer, He... |
ORPHA:2072 |
Immunodeficiency 48 |
|
Absence of CD8-positive T cells, Splenomegaly, Failure to thrive, Hepatomegaly |
OMIM:269840 |
Familial Anetoderma |
|
Lumbar hyperlordosis, Papule |
ORPHA:228277 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Lymphadenopathy, Hemophagocytosis, Anemia |
OMIM:613101 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... |
OMIM:266200 |
Immunodeficiency 21 |
|
Aplastic anemia, Myelodysplasia, B lymphocytopenia, Cervical intraepithelial neoplasia, Neutropen... |
OMIM:614172 |
Omenn Syndrome |
|
Hepatomegaly, Failure to thrive, Eosinophilia, Splenomegaly, Leukocytosis, Lymphoma, Dry skin, Ly... |
ORPHA:39041 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt... |
OMIM:615513 |
Dna2-Related Mitochondrial Dna Deletion Syndrome |
|
Multiple joint contractures, Slender build, Hyperlordosis |
ORPHA:352470 |
Liposarcoma |
|
Weight loss, Subcutaneous nodule, Sarcoma |
ORPHA:69078 |
Tempi Syndrome |
|
Facial erythema, Increased hematocrit, Hemangioma, Ascites, Polycythemia |
ORPHA:284227 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thymus, Pancreatic endoc... |
ORPHA:99889 |
Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Reticulocytosis, Intermittent jaundice |
OMIM:179700 |
Bicd2-Related Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy |
|
Flexion contracture, Congenital foot contraction deformities, Hyperlordosis |
ORPHA:363454 |
Galactosemia Iii |
|
Splenomegaly, Jaundice, Failure to thrive, Hepatomegaly |
OMIM:230350 |
Congenital Myopathy 16 |
|
Lumbar hyperlordosis, Flexion contracture, Scoliosis, Spinal rigidity |
OMIM:618524 |
Erythrokeratodermia Variabilis |
|
Macule, Hypermelanotic macule, Erythema, Weight loss, Neoplasm of the skin, Dry skin |
ORPHA:317 |
Tuberous Sclerosis 2 |
|
Chordoma, Astrocytoma, Angiofibromas, Retinal hamartoma, Subcutaneous nodule, Ependymoma, Gingiva... |
OMIM:613254 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4 |
|
Joint contracture of the hand, Scoliosis, Hyperlordosis |
OMIM:611067 |
Nemaline Myopathy 5C, Autosomal Dominant |
|
Achilles tendon contracture, Slender build, Scoliosis, Hyperlordosis |
OMIM:620389 |
Recessive Dystrophic Epidermolysis Bullosa Inversa |
|
Localized skin lesion, Squamous cell carcinoma, Atrophic scars, Basal cell carcinoma, Cutaneous m... |
ORPHA:79409 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Hip contracture, Hyperlordosis, Kyphosis, Achilles tendon contracture, Knee flexion contracture, ... |
OMIM:615290 |
Spinal Muscular Atrophy, Infantile, James Type |
|
Hip contracture, Lumbar hyperlordosis, Scoliosis |
OMIM:619042 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type |
|
Lumbar hyperlordosis, Irregular vertebral endplates, Platyspondyly, Thoracic kyphosis, Scoliosis,... |
OMIM:609223 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1 |
|
Pancytopenia, Aplastic anemia, Myelodysplasia, Mediastinal lymphadenopathy, Bone marrow hypocellu... |
OMIM:614742 |
Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Elevated hepatic transaminase, Small for gest... |
OMIM:260400 |
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Kyphosis, Lumbar hyperlordosis, Obesity, Scoliosis |
OMIM:616756 |
Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Lymphoproliferative disorder, Splenomegaly, Lymphoma... |
OMIM:615122 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Lymphocytosis, Hepatomegaly |
OMIM:606445 |
Li-Fraumeni Syndrome |
|
Astrocytoma, Neoplasm of the central nervous system, Neoplasm, Thyroid carcinoma, Prostate cancer... |
ORPHA:524 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Cachexia, Flexion contracture, Spinal rigidity, Hyperlordosis |
ORPHA:157973 |
Diffuse Neonatal Hemangiomatosis |
|
Hepatomegaly, Hemangiomatosis, Visceral angiomatosis, Anemia, Ascites, Thrombocytopenia |
ORPHA:2123 |
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16 |
|
Lumbar hyperlordosis, Ankle flexion contracture |
ORPHA:280333 |
Niemann-Pick Disease, Type A |
|
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, B... |
OMIM:257200 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Lipodystrophy, Splenomegaly, Hepatosplenomegal... |
OMIM:612526 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, C... |
ORPHA:79301 |
Glut1 Deficiency Syndrome 2 |
|
Splenomegaly, Hemolytic anemia, Reticulocytosis |
OMIM:612126 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hepatomegaly, Splenomegaly, Anemia, Neutropenia, Failure to thrive, Pancreatitis, Thrombocytopenia |
ORPHA:79312 |
Dohle Bodies And Leukemia |
|
Acute myeloid leukemia, Leukocyte inclusion bodies, Anemia |
OMIM:223350 |
Familial Adenomatous Polyposis |
|
Astrocytoma, Epidermoid cyst, Brain neoplasm, Soft tissue neoplasm, Angiofibromas, Papillary thyr... |
ORPHA:733 |
Transaldolase Deficiency |
|
Hepatosplenomegaly, Anemia, Cirrhosis, Premature skin wrinkling, Thrombocytopenia |
ORPHA:101028 |
Vitamin B12-Responsive Methylmalonic Acidemia |
|
Hepatomegaly, Failure to thrive, Anemia |
ORPHA:28 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Erythema, Flexion contracture, Generaliz... |
OMIM:619183 |
Infantile Liver Failure Syndrome 1 |
|
Acute hepatic failure, Hepatomegaly, Macrocytic anemia, Elevated hepatic transaminase, Failure to... |
OMIM:615438 |
Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... |
OMIM:612690 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de... |
OMIM:616278 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... |
ORPHA:3202 |
Stormorken-Sjaastad-Langslet Syndrome |
|
Asplenia, Anemia, Purpura |
ORPHA:3204 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Esophageal neoplasm, Hepatomegaly, Ascites, Weight loss |
ORPHA:2198 |
Immunodeficiency 32B |
|
Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Monocyt... |
OMIM:226990 |
Incontinentia Pigmenti |
|
Abnormal dental enamel morphology, Camptodactyly of finger, Eosinophilia, Erythema, Hypopigmented... |
ORPHA:464 |
Activated Pi3K-Delta Syndrome |
|
Hepatomegaly, Splenomegaly, Lymphoma, Recurrent tonsillitis, Lymphadenopathy, B lymphocytopenia, ... |
ORPHA:397596 |
Familial Pancreatic Carcinoma |
|
Back pain, Elevated hepatic transaminase, Pancreatic adenocarcinoma, Jaundice, Breast carcinoma, ... |
ORPHA:1333 |
Diamond-Blackfan Anemia 16 |
|
Anemia |
OMIM:617408 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundi... |
OMIM:619868 |
Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
Infantile Systemic Hyalinosis |
|
Camptodactyly of finger, Short neck, Subcutaneous nodule, Skin ulcer, Failure to thrive, Aplasia/... |
ORPHA:2176 |
Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A... |
OMIM:601859 |
Schimke Immuno-Osseous Dysplasia |
|
Failure to thrive, Non-Hodgkin lymphoma, Lymphoproliferative disorder, Hypermelanotic macule, Lum... |
ORPHA:1830 |
Desmoid Tumor |
|
Fibroma, Neoplasm of the skin, Subcutaneous nodule, Desmoid tumors |
ORPHA:873 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Hip contracture, Inguinal hernia, Kyphoscoliosis, Hyperlordosis, Obesity, Irregular vertebral end... |
OMIM:618363 |
Congenital Myopathy 2A, Typical, Autosomal Dominant |
|
Spinal rigidity, Hyperlordosis, Scoliosis, Arthrogryposis multiplex congenita, Slender build |
OMIM:161800 |
Gamma-Heavy Chain Disease |
|
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... |
ORPHA:100026 |
Dermatoosteolysis, Kirghizian Type |
|
Aplasia/Hypoplasia of the skin, Scoliosis, Skin ulcer |
ORPHA:1657 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Hepatomegaly, Petechiae, Splenomegaly, Anemia, Purpura |
OMIM:620296 |
Hajdu-Cheney Syndrome |
|
Hepatomegaly, Inguinal hernia, Failure to thrive, Short neck, Hypoplastic 5th lumbar vertebrae, S... |
ORPHA:955 |
Immunodeficiency 46 |
|
Failure to thrive, Neutropenia, Anemia, Intermittent thrombocytopenia |
OMIM:616740 |
Bleeding Disorder, Platelet-Type, 16 |
|
Petechiae, Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia |
OMIM:187800 |
Cushing Disease |
|
Dorsocervical fat pad, Pituitary corticotropic cell adenoma, Leukocytosis, Increased body weight,... |
ORPHA:96253 |
Blau Syndrome |
|
Clear cell renal cell carcinoma, Camptodactyly of finger, Splenomegaly, Erythema, Skin ulcer, Lym... |
ORPHA:90340 |
Mucolipidosis Type Iii |
|
Inguinal hernia, Abnormal form of the vertebral bodies, Hyperlordosis |
ORPHA:577 |
Bone Marrow Failure Syndrome 2 |
|
Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia |
OMIM:615715 |
Tuberculosis |
|
Weight loss |
ORPHA:3389 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Autoimmune hemolytic anemia, Failure to thrive, Splenomegaly, Lymphadenopathy, Decr... |
OMIM:618495 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hyperlordosis, Kyphosis, Obesity, Keloids, Dry skin |
ORPHA:3085 |
Familial Thrombocytosis |
|
Acute myeloid leukemia, Myelodysplasia, Splenomegaly, Chronic myelogenous leukemia, Weight loss, ... |
ORPHA:71493 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Prolonged neonatal jaundice,... |
OMIM:300908 |
Primary Sjögren Syndrome |
|
Normocytic anemia, Lymphopenia, Chronic active hepatitis, Lymphoproliferative disorder, Lymphoma,... |
ORPHA:289390 |
Monosomy 22 |
|
Aplasia of the thymus, Short neck, Schwannoma, Hypochromic microcytic anemia, Hepatosplenomegaly,... |
ORPHA:96123 |
Acute Promyelocytic Leukemia |
|
Pancytopenia, Thrombocytopenia, Leukocytosis, Lymphadenopathy, Anemia, Leukopenia, Weight loss, N... |
ORPHA:520 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Failure to thrive, Exocrin... |
OMIM:612714 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B... |
ORPHA:1414 |
Indolent Systemic Mastocytosis |
|
Hepatomegaly, Hematological neoplasm, Splenomegaly, Lymphadenopathy, Increased proportion of CD25... |
ORPHA:98848 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Short neck, Microcytic anemia, Flexion contracture, Failure to thrive, HbH hemoglobin |
ORPHA:98791 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundi... |
OMIM:620010 |
Hurler-Scheie Syndrome |
|
Hepatomegaly, Abnormality of the tonsils, Splenomegaly, Spinal canal stenosis, Hernia, Abnormal v... |
ORPHA:93476 |
Sialidosis Type 2 |
|
Hepatomegaly, Inguinal hernia, Splenomegaly, Kyphosis, Flexion contracture, Umbilical hernia, Asc... |
ORPHA:87876 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... |
OMIM:194380 |
Papa Syndrome |
|
Skin ulcer, Lymphadenopathy |
ORPHA:69126 |
Fucosidosis |
|
Cervical platyspondyly, Hepatomegaly, Failure to thrive, Lumbar hyperlordosis, Ovoid vertebral bo... |
OMIM:230000 |
Anemia, Sideroblastic, 1 |
|
Sideroblastic anemia, Macrocytic anemia, Anemic pallor, Anemia of inadequate production, Hypochro... |
OMIM:300751 |
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1 |
|
Ankle flexion contracture, Hyperlordosis, Spinal rigidity, Flexion contracture, Elbow flexion con... |
ORPHA:267 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Autoimmune hemolytic anemia, Lymphoproliferative disorder, Splenomegaly, Jaundice, Chronic lympha... |
ORPHA:90033 |
Hereditary Sensory And Autonomic Neuropathy Type 1 |
|
Penetrating foot ulcers, Skin ulcer |
ORPHA:36386 |
Immunodeficiency 54 |
|
Hepatomegaly, Failure to thrive, Lymphoproliferative disorder, Splenomegaly, Lymphadenopathy, Red... |
OMIM:609981 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Fulminant hepatitis, Lymphoma, Burkitt... |
OMIM:308240 |
Sea-Blue Histiocytosis |
|
Hepatomegaly, Petechiae, Splenomegaly, Mediastinal lymphadenopathy, Subcutaneous nodule, Sea-blue... |
ORPHA:158029 |
Acquired Hypertrichosis Lanuginosa |
|
Lymphadenopathy, Ovarian neoplasm, Weight loss, Neoplasm, Neoplasm of the breast, Neoplasm of the... |
ORPHA:2221 |
Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotrans... |
OMIM:278000 |
Erythrocytosis, Familial, 4 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:611783 |
Ck Syndrome |
|
Kyphosis, Slender build, Scoliosis, Hyperlordosis |
OMIM:300831 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Splenomegaly, Ascites, Anemia |
ORPHA:1046 |
Gaucher Disease, Type I |
|
Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Multiple myeloma, Vertebral comp... |
OMIM:230800 |
Sézary Syndrome |
|
Hepatomegaly, Cutaneous T-cell lymphoma, Splenomegaly, Lymphoma, Dry skin, Lymphadenopathy, Neopl... |
ORPHA:3162 |
Bleeding Disorder, Platelet-Type, 19 |
|
Thrombocytopenia, Macrothrombocytopenia, Anemia |
OMIM:616176 |
Aicardi-Goutieres Syndrome 9 |
|
Elevated hepatic transaminase, Hemolytic anemia, Hepatomegaly, Acute pancreatitis, Failure to thr... |
OMIM:619487 |
Babesiosis |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Leukopenia, Hepatic failure, Thrombocytop... |
ORPHA:108 |
Hoyeraal-Hreidarsson Syndrome |
|
Abnormal leukocyte morphology, Anemia, Excessive wrinkled skin, Neoplasm, Dermal atrophy, Bone ma... |
ORPHA:3322 |
Gaucher Disease, Type Iii |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Decreased body weight, Thrombocytopenia |
OMIM:231000 |
Immunodeficiency 7 |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut... |
OMIM:615387 |
Portal Hypertension, Noncirrhotic, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Petechiae, Portal hypertension, Nodular regenerative... |
OMIM:619463 |
Essential Thrombocythemia |
|
Splenomegaly, Myelodysplasia, Abnormal platelet morphology, Acute leukemia |
ORPHA:3318 |
Immunodeficiency, Common Variable, 2 |
|
Hepatomegaly, Follicular hyperplasia, Splenomegaly, Lymphoma, Lymphadenopathy, Neoplasm |
OMIM:240500 |
Paraneoplastic Pemphigus |
|
Skin erosion, B-cell lymphoma, Thymoma, Sarcoma |
ORPHA:63455 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Decreased mean corpuscular volume, Elevated hepatic iron concentration, Erythroid hyperplasia, Hy... |
OMIM:206100 |
Isolated Glycerol Kinase Deficiency |
|
Scoliosis, Hyperlordosis |
ORPHA:408 |
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Lumbar hyperlordosis, Abnormal macrophage morphology, Achilles tendon contracture, Scoliosis, Rig... |
ORPHA:353 |
Aicardi-Goutieres Syndrome 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Thro... |
OMIM:610333 |
Transaldolase Deficiency |
|
Hepatomegaly, Pancytopenia, Small for gestational age, Short neck, Splenomegaly, Micronodular cir... |
OMIM:606003 |
Tyrosinemia Type 1 |
|
Acute hepatic failure, Splenomegaly, Hepatocellular carcinoma, Hepatomegaly |
ORPHA:882 |
Ovarian Fibrothecoma |
|
Diffuse leiomyomatosis, Ovarian fibroma, Peritonitis, Fibrosarcoma, Ascites |
ORPHA:314478 |
Peutz-Jeghers Syndrome |
|
Macule, Neoplasm of the nose, Pancreatic adenocarcinoma, Esophageal neoplasm, Biliary tract neopl... |
ORPHA:2869 |
Simple Cryoglobulinemia |
|
Viral hepatitis, B-cell lymphoma, Localized skin lesion, Monoclonal immunoglobulin M proteinemia,... |
ORPHA:91139 |
Masa Syndrome |
|
Kyphosis, Hyperlordosis |
OMIM:303350 |
Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617907 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Lipodystrophy, Thrombocytopenia, ... |
OMIM:617591 |
Poems Syndrome |
|
Lymphoproliferative disorder, Lipodystrophy, Lymphadenopathy, Weight loss, Ascites, Thrombocytosi... |
ORPHA:2905 |
Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Failure to thrive, Aplastic anemia, Pancreatic steatosis, T... |
OMIM:617052 |
Elliptocytosis 1 |
|
Hemolytic anemia, Splenomegaly, Jaundice, Elliptocytosis, Pallor |
OMIM:611804 |
Hereditary Methemoglobinemia |
|
Small for gestational age, Methemoglobinemia |
ORPHA:621 |
Erythrocytosis, Familial, 3 |
|
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:609820 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N... |
OMIM:235700 |
Anauxetic Dysplasia 2 |
|
Thoracolumbar kyphoscoliosis, Ovoid vertebral bodies, Hyperlordosis, Short neck, Posterior wedgin... |
OMIM:617396 |
Schimke Immunoosseous Dysplasia |
|
Macule, Pancytopenia, Lumbar hyperlordosis, Small for gestational age, Hypermelanotic macule, Ovo... |
OMIM:242900 |
Fgfr2-Related Bent Bone Dysplasia |
|
Extramedullary hematopoiesis, Hepatosplenomegaly |
ORPHA:313855 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A... |
OMIM:603909 |
Kaposiform Lymphangiomatosis |
|
Abnormal thoracic spine morphology, Lymphangioma, Splenomegaly, Abnormal sacrum morphology, Pancr... |
ORPHA:464329 |
Metaphyseal Chondrodysplasia, Spahr Type |
|
Scoliosis, Hyperlordosis |
ORPHA:2501 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Elevated hepatic transaminase, Anisopoikilocytosis, Reticulocytopenia, Hepatosplenomegaly, Decrea... |
ORPHA:300298 |
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Thoracic scoliosis, Lumbar hyperlordosis, Elbow flexion contracture, Thoracic kyphosis, Left vent... |
ORPHA:206546 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Subcutaneous nodule, Lymphoma, Skin ulcer, Panniculitis, Scaling skin, Cellulitis, Leukemia, Dry ... |
ORPHA:2526 |
Cartilage-Hair Hypoplasia |
|
Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Lumbar hyperlordos... |
OMIM:250250 |
Mulchandani-Bhoj-Conlin Syndrome |
|
Hypermelanotic macule, Hyperlordosis, Cafe-au-lait spot, Scoliosis, Failure to thrive |
OMIM:617352 |
Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Splenomegaly, Fetal ascites, Hepatomegaly |
OMIM:619462 |
Neonatal Lupus Erythematosus |
|
Elevated hepatic transaminase, Hemolytic anemia, Pancytopenia, Hepatomegaly, Aplastic anemia, Thr... |
ORPHA:398124 |
Spastic Paraplegia 87, Autosomal Recessive |
|
Lumbar hyperlordosis |
OMIM:619966 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 3 |
|
Hyperlordosis |
OMIM:607088 |
Progressive Nodular Histiocytosis |
|
Cachexia, Subcutaneous nodule, Papule |
ORPHA:158022 |
Bone Marrow Failure Syndrome 4 |
|
Anemia, Leukopenia, Bone marrow hypocellularity, Dry skin, Thrombocytopenia |
OMIM:618116 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Elevated hepatic transaminase, Cachexia, Weight loss, Macrovesicular hepatic steatosis, Cirrhosis... |
ORPHA:298 |
Reynolds Syndrome |
|
Hepatomegaly, Jaundice, Skin ulcer, Cirrhosis, Ascites |
ORPHA:779 |
Osteopetrosis, Autosomal Dominant 3 |
|
Splenomegaly, Anemia, Hepatomegaly |
OMIM:618107 |
Harderoporphyria |
|
Hemolytic anemia, Hepatomegaly, Reticulocytosis, Splenomegaly, Prolonged neonatal jaundice |
OMIM:618892 |
Primary Intestinal Lymphangiectasia |
|
Peritoneal effusion, Disseminated cutaneous warts, Abnormal lymphatic vessel morphology, Weight l... |
ORPHA:90362 |
Farber Lipogranulomatosis |
|
Hepatomegaly, Splenomegaly, Subcutaneous nodule, Periarticular subcutaneous nodules, Lipogranulom... |
OMIM:228000 |
Gastrointestinal Stromal Tumor |
|
Gastrointestinal stroma tumor, Esophageal neoplasm, Abnormality of the liver, Anemia, Sarcoma |
ORPHA:44890 |
Solitary Fibrous Tumor |
|
Abnormal peritoneum morphology, Low back pain, Soft tissue neoplasm, Vaginal neoplasm, Pelvic mas... |
ORPHA:2126 |
Cystic Echinococcosis |
|
Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Eosinophilia, Hepati... |
ORPHA:400 |
Autoinflammation With Infantile Enterocolitis |
|
Pancytopenia, Failure to thrive, Splenomegaly, Anemia, Reduced natural killer cell count, Thrombo... |
OMIM:616050 |
Neurofibromatosis Type 1 |
|
Macule, Astrocytoma, Kyphosis, Subcutaneous nodule, Hypopigmented skin patches, Melanocytic nevus... |
ORPHA:636 |
Idiopathic Achalasia |
|
Weight loss |
ORPHA:930 |
Hepatoportal Sclerosis |
|
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Hy... |
ORPHA:64743 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy, Neoplasm, Hypocalcification of den... |
ORPHA:169090 |
Nemaline Myopathy 2 |
|
Hyperlordosis, Spinal rigidity, Flexion contracture, Congenital contracture, Scoliosis, Arthrogry... |
OMIM:256030 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:300946 |
Pseudodiastrophic Dysplasia |
|
Lumbar hyperlordosis, Short neck, Hypoplasia of the odontoid process, Platyspondyly, Scoliosis, C... |
OMIM:264180 |
Nemaline Myopathy 7 |
|
Lumbar hyperlordosis, Kyphoscoliosis, Knee flexion contracture |
OMIM:610687 |
Acute Panmyelosis With Myelofibrosis |
|
Acute myeloid leukemia, Low back pain, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia,... |
ORPHA:86843 |
Common Variable Immunodeficiency |
|
Elevated hepatic transaminase, Hemolytic anemia, Failure to thrive in infancy, Autoimmune thrombo... |
ORPHA:1572 |
Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3 |
|
Achilles tendon contracture, Thoracic scoliosis, Hyperlordosis |
ORPHA:62 |
Oculocerebrorenal Syndrome Of Lowe |
|
Benign neoplasm of the central nervous system, Inguinal hernia, Abnormal dental enamel morphology... |
ORPHA:534 |
Myelofibrosis |
|
Myeloproliferative disorder, Splenomegaly, Pallor, Purpura |
OMIM:254450 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Thoracic kyphoscoliosis, Pancytopenia, Lumbar hyperlordosis, Hepatomegaly, Failure to thrive in i... |
OMIM:613385 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Abnormal sacroiliac joint morphology, Weight loss, Scoliosis, Abnormal vertebral morphology, Anemia |
ORPHA:324964 |
Cowden Syndrome 1 |
|
Skin tags, Acrokeratosis, Kyphosis, Fibroadenoma of the breast, Breast carcinoma, Carcinoma, Hama... |
OMIM:158350 |
Vipoma |
|
Neoplasm of the pancreas, Hepatomegaly, Follicular thyroid carcinoma, Intrahepatic cholestasis, P... |
ORPHA:97282 |
Malt Lymphoma |
|
B-cell lymphoma, Mediastinal lymphadenopathy, Weight loss, Lymphadenopathy, Anemia |
ORPHA:52417 |
Kikuchi-Fujimoto Disease |
|
Macule, Erythematous macule, Hepatomegaly, Generalized lymphadenopathy, Elevated hepatic transami... |
ORPHA:50918 |
Granulomatosis With Polyangiitis |
|
Granulomatosis, Skin ulcer, Weight loss |
OMIM:608710 |
Atypical Werner Syndrome |
|
Renal neoplasm, Hepatic steatosis, Aplasia/Hypoplasia of the skin, Lipoatrophy, Failure to thrive... |
ORPHA:79474 |
Striatonigral Degeneration, Childhood-Onset |
|
Lumbar hyperlordosis |
OMIM:617054 |
Nephroblastoma |
|
Lymphadenopathy, Neoplasm of the lung, Neoplasm of the liver, Weight loss, Neoplasm, Nephroblastoma |
ORPHA:654 |
Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617980 |
Giant Cell Arteritis |
|
Mediastinal lymphadenopathy, Hepatic failure, Skin ulcer, Weight loss |
ORPHA:397 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Hepatomegaly, Autoimmune hemolytic anemia, Failure to thrive, Splenomegaly, Hypereosinophilia, Dr... |
OMIM:617388 |
Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
Spherocytosis, Type 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis |
OMIM:616649 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c... |
OMIM:619658 |
Hereditary Elliptocytosis |
|
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma... |
ORPHA:288 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Reduced subcutaneous adipose tissue, Aplasia/Hypoplasia of the skin, Lipodystrophy, Lipoatrophy, ... |
ORPHA:1979 |
Chronic Mucocutaneous Candidiasis |
|
Abnormal dental enamel morphology, Erythema, Hepatitis, Skin ulcer, Papule |
ORPHA:1334 |
Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Small for gestational age, Pure red cell aplasia, Myelodysplasia, Short n... |
ORPHA:124 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Lipodystrophy, Hyperlordosis, Spinal rigidity, Splen... |
OMIM:613327 |
Eosinophilic Gastroenteritis |
|
Eosinophilia, Leukocytosis, Weight loss, Ascites, Anemia |
ORPHA:2070 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatitis, Hemophagocytosis |
OMIM:300635 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Aplasia/Hypoplasia of the skin, Lipod... |
ORPHA:2348 |
Hereditary Acrokeratotic Poikiloderma |
|
Camptodactyly of finger, Erythema, Hypopigmented skin patches, Skin ulcer, Squamous cell carcinom... |
ORPHA:2907 |
Allergic Bronchopulmonary Aspergillosis |
|
Abnormal eosinophil morphology, Weight loss |
ORPHA:1164 |
Spherocytosis, Type 4 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis |
OMIM:612653 |
Diamond-Blackfan Anemia 6 |
|
Persistence of hemoglobin F, Failure to thrive, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:612561 |
Omenn Syndrome |
|
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... |
OMIM:603554 |
Tarp Syndrome |
|
Failure to thrive, Extramedullary hematopoiesis, Scoliosis |
ORPHA:2886 |
Pseudomyxoma Peritonei |
|
Abnormal peritoneum morphology, Weight loss, Lymphadenopathy, Hernia, Ascites |
ORPHA:26790 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia |
OMIM:617441 |
Acrodermatitis Enteropathica |
|
Erythema, Dry skin, Skin ulcer, Weight loss, Failure to thrive |
ORPHA:37 |
Spherocytosis, Type 1 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis |
OMIM:182900 |
Gm1 Gangliosidosis |
|
Inguinal hernia, Camptodactyly of finger, Hyperlordosis, Splenomegaly, Kyphosis, Abnormal form of... |
ORPHA:354 |
Diencephalic Syndrome |
|
Neoplasm of the nervous system, Cachexia, Decreased body weight |
ORPHA:1672 |
Absence Deformity Of Leg-Cataract Syndrome |
|
Scoliosis, Hyperlordosis |
ORPHA:2310 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... |
OMIM:613470 |
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Reduced subcutaneous adipose tissue, Lumbar hyperlordosis, Thoracolumbar scoliosis, Kyphoscoliosi... |
ORPHA:3041 |
Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Flexion contracture, Corneal scarring, Squamous cell carcinoma, Atrophic scars, Enamel hypoplasia... |
OMIM:226600 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Kyphosis, Sacral dimple, Scoliosis, Hyperlordosis |
OMIM:615761 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Hiatus hernia, Overweight, Persistence of hemoglobin F, Increased size of nasopharyngeal adenoids... |
OMIM:619769 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Hepatomegaly, Lumbar hyperlordosis, Short neck, Splenomegaly, Platyspondyly, Scoliosis, Vertebral... |
OMIM:602557 |
Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormality of the spleen, Abnormal mesentery morphology, Cachexia, Abnormal form of the vertebra... |
ORPHA:93941 |
Cinca Syndrome |
|
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Leukocytosis, Lymphadenopathy, Abnormal g... |
ORPHA:1451 |
Castleman Disease |
|
Generalized lymphadenopathy, Abdominal mass, Follicular hyperplasia, Mediastinal lymphadenopathy,... |
ORPHA:160 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Splenomegaly, Increased B cell count |
OMIM:616452 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Splenomegaly, Macrocytic anemia, Failure to thrive |
OMIM:619046 |
Budd-Chiari Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Portal hypertension, Splenome... |
ORPHA:131 |
Lipodystrophy, Familial Partial, Type 6 |
|
Hepatic steatosis, Abdominal obesity, Lumbar hyperlordosis, Lipodystrophy |
OMIM:615980 |
Calciphylaxis |
|
Skin ulcer, Cellulitis |
ORPHA:280062 |
Triosephosphate Isomerase Deficiency |
|
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Failure to thrive, Splenomegaly, Kyphosis... |
OMIM:615512 |
Alveolar Echinococcosis |
|
Low back pain, Liver abscess, Eosinophilia, Cholangitis, Portal hypertension, Hepatic cysts, Panc... |
ORPHA:284 |
Split Cord Malformation |
|
Back pain, Abnormal thoracic spine morphology, Low back pain, Kyphoscoliosis, Hyperlordosis, Pene... |
ORPHA:573278 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Elevated hepatic transaminase, Anisocytosis, Abnormal erythrocyte morphology, Increased mean corp... |
ORPHA:98870 |
Ck Syndrome |
|
Lumbar hyperlordosis, Slender build, Kyphoscoliosis |
ORPHA:251383 |
Autoimmune Lymphoproliferative Syndrome |
|
Hepatocellular carcinoma, Thyroid carcinoma, Lymphocytosis, Increased B cell count, Elevated prop... |
ORPHA:3261 |
Fanconi Anemia, Complementation Group C |
|
Hypopigmented macule, Pancytopenia, Anemic pallor, Small for gestational age, Thrombocytopenia, F... |
OMIM:227645 |
Familial Colorectal Cancer Type X |
|
Benign neoplasm of the central nervous system, Renal neoplasm, Pancreatic adenocarcinoma, Gliobla... |
ORPHA:440437 |
Myasthenic Syndrome, Congenital, 5 |
|
Scoliosis, Hyperlordosis |
OMIM:603034 |
Braddock-Carey Syndrome 1 |
|
Hyperlordosis, Enamel hypoplasia, Thrombocytopenia, Camptodactyly |
OMIM:619980 |
Adams-Oliver Syndrome 5 |
|
Inguinal hernia, Hypersplenism, Splenomegaly, Portal vein thrombosis, Cavernous hemangioma, Umbil... |
OMIM:616028 |
Fetal Gaucher Disease |
|
Hepatomegaly, Pancytopenia, Abnormality of the spleen, Splenomegaly, Flexion contracture, Arthrog... |
ORPHA:85212 |
Polycythemia Vera |
|
Hepatomegaly, Myelodysplasia, Portal hypertension, Portal vein thrombosis, Splenomegaly, Acute le... |
ORPHA:729 |
Bare Lymphocyte Syndrome, Type I |
|
Skin ulcer |
OMIM:604571 |
Griscelli Syndrome Type 2 |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropeni... |
ORPHA:79477 |
Spondyloepimetaphyseal Dysplasia, Handigodu Type |
|
Hip contracture, Lumbar hyperlordosis, Abnormal intervertebral disk morphology, Platyspondyly, Ab... |
ORPHA:99642 |
Camurati-Engelmann Disease |
|
Hepatomegaly, Cachexia, Hyperlordosis, Splenomegaly, Abnormal subcutaneous fat tissue distributio... |
ORPHA:1328 |
Parkes Weber Syndrome |
|
Back pain, Hemangiomatosis, Skin ulcer, Abnormal lymphatic vessel morphology, Erythematous plaque... |
ORPHA:90307 |
Glucagonoma |
|
Neoplasm of the pancreas, Hepatomegaly, Acanthocytosis, Necrolytic migratory erythema, Intrahepat... |
ORPHA:97280 |
Splenoportal Vascular Anomalies |
|
Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites |
OMIM:271500 |
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans |
|
Lumbar hyperlordosis, Exostoses |
OMIM:165800 |
Somatostatinoma |
|
Neoplasm of the pancreas, Hepatomegaly, Intrahepatic cholestasis, Pituitary adenoma, Abnormal abd... |
ORPHA:97283 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Failure to thrive, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia... |
OMIM:602450 |
Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
Tuberous Sclerosis 1 |
|
Chordoma, Dental enamel pits, Astrocytoma, Subcutaneous nodule, Ependymoma, Gingival fibromatosis... |
OMIM:191100 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Stomatocytosis, Increase... |
OMIM:185000 |
Sitosterolemia 1 |
|
Reticulocytosis, Tuberous xanthoma, Thrombocytopenia, Splenomegaly, Giant platelets, Xanthelasma,... |
OMIM:210250 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Hyperlordosis, Short neck, Hepatosplenomegaly, Platyspondyly, Squared-off platyspondyly, Scoliosi... |
ORPHA:93352 |
Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Failure to thrive, Pure red cell aplasia, Autoimmune thrombocytopeni... |
OMIM:613179 |
Cutis Laxa, Autosomal Recessive, Type Iie |
|
Inguinal hernia, Lumbar hyperlordosis, Ovoid vertebral bodies, Cutis laxa, Scoliosis |
OMIM:619451 |
Celiac Disease, Susceptibility To, 1 |
|
Elevated hepatic transaminase, Macrocytic anemia, Lymphoma, Weight loss, Iron deficiency anemia, ... |
OMIM:212750 |
Mulibrey Nanism |
|
Hepatomegaly, Cachexia |
ORPHA:2576 |
Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Failure to thrive, Myelodysplasia, Congenital hypoplastic anemia, Short neck, ... |
OMIM:105650 |
Microscopic Polyangiitis |
|
Peritonitis, Erythema, Subcutaneous nodule, Skin ulcer, Pancreatitis |
ORPHA:727 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Vertebral fusion, Elbow contracture, Hyperlordosis, Kyphosis, Achilles tendon contracture, Scoliosis |
OMIM:606612 |
Thymic Neuroendocrine Tumor |
|
Pituitary null cell adenoma, Pancreatic islet cell adenoma, Chronic noninfectious lymphadenopathy... |
ORPHA:97289 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Fibrosarcoma, Histiocytoma, Thin skin, Osteosarcoma |
OMIM:112250 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Hepatomegaly, Petechiae, Hepatosplenomegaly, Lymphadenopathy, Abnormal lymph node morphology, Wei... |
ORPHA:85450 |
Amoebiasis Due To Free-Living Amoebae |
|
Subcutaneous nodule, Skin ulcer, Increased red blood cell count, Papule |
ORPHA:68 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Lipodystrophy, Hyperlordosis, Spinal rigidity, Kyphosis, Achilles tendon contracture, ... |
ORPHA:98855 |
Medullary Thyroid Carcinoma |
|
Neoplasm of the skeletal system, Lymphadenopathy, Neoplasm of the lung, Abnormal liver parenchyma... |
ORPHA:1332 |
Gaucher Disease Type 1 |
|
Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Kyphosis, Anemia, Leukopenia, Cirrhosis,... |
ORPHA:77259 |
Yellow Nail Syndrome |
|
Renal neoplasm, Biliary tract neoplasm, Neoplasm of the lung, Neoplasm, Hypoplasia of lymphatic v... |
ORPHA:662 |
Huntington Disease-Like 2 |
|
Weight loss |
ORPHA:98934 |
Intellectual Disability And Myopathy Syndrome |
|
Lumbar hyperlordosis, Achilles tendon contracture, Spotty hypopigmentation, Scoliosis, Cafe-au-la... |
OMIM:619719 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Hepatomegaly, Abnormal dental enamel morphology, Portal hypertension, Splenomegaly, Scarring alop... |
ORPHA:59303 |
Crisponi/Cold-Induced Sweating Syndrome 2 |
|
Lumbar hyperlordosis, Thoracolumbar scoliosis |
OMIM:610313 |
Adenocarcinoma Of The Anal Canal |
|
Anal canal adenocarcinoma, Neoplasm of the skeletal system, Skin ulcer, Lymphadenopathy, Neoplasm... |
ORPHA:424016 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Myelodysplasia, Portal hypertension, Anemia, Squamous cell carcinoma of the skin, Lymphopenia, Th... |
OMIM:620365 |
Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Hyperlordosis, Scoliosis, Shagreen patch |
ORPHA:2511 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Lipodystrophy, Short neck, Hyperlordosis, Kyphosis, Achilles tendon contracture, Spina... |
ORPHA:98863 |
Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Leukocytosis, Lymphadenitis, Cholestas... |
OMIM:615895 |
Diffuse Alveolar Hemorrhage |
|
Thrombocytopenia, Leukocytosis, Anemia, Weight loss |
ORPHA:90060 |
Immunodeficiency 36 With Lymphoproliferation |
|
B-cell lymphoma, Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Increased proportion... |
OMIM:616005 |
Cryohydrocytosis |
|
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis |
OMIM:185020 |
Adult Polyglucosan Body Disease |
|
Skin ulcer |
ORPHA:206583 |
Malakoplakia |
|
Follicular hyperplasia, Subcutaneous nodule, Skin ulcer, Prostate neoplasm, Papule |
ORPHA:556 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1 |
|
Lumbar hyperlordosis, Flexion contracture, Spinal rigidity |
OMIM:609308 |
Kasabach-Merritt Syndrome |
|
Reticulocytosis, Thrombocytopenia, Abnormal lymphatic vessel morphology, Anemia, Leukopenia, Hepa... |
ORPHA:2330 |
Macrophage Activation Syndrome |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevat... |
ORPHA:158061 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Flexion contracture, Hepatosplenomegaly, Enthesitis, Lymphadenopathy, Weight loss, Abnormality of... |
ORPHA:85408 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Pancytopenia, Autoimmune hemolytic anemia, Psoriasiform lesion, Chronic neutropenia, Lymphoprolif... |
OMIM:614700 |
Intestinal Dysmotility Syndrome |
|
Failure to thrive, Weight loss |
OMIM:620045 |
Chime Syndrome |
|
Erythema, Skin ulcer, Acute leukemia |
ORPHA:3474 |
Griscelli Syndrome |
|
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hypopigmented skin patches, Hep... |
ORPHA:381 |
Multiple Endocrine Neoplasia Type 4 |
|
Angiofibromas, Pituitary corticotropic cell adenoma, Pituitary prolactin cell adenoma, Carcinoid ... |
ORPHA:276152 |
Pparg-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Aplasia/Hypoplasia of the skin, Lipoa... |
ORPHA:79083 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Elevated hepatic transaminase, Hepatomegaly, Petechiae, Thrombocytopenia, Splenomegaly, Jaundice,... |
ORPHA:540 |
Myopathy, Centronuclear, 2 |
|
Kyphosis, Flexion contracture, Scoliosis, Hyperlordosis |
OMIM:255200 |
Mismatch Repair Cancer Syndrome 1 |
|
Glioblastoma multiforme, Astrocytoma, Non-Hodgkin lymphoma, Rhabdomyosarcoma, Oligodendroglioma, ... |
OMIM:276300 |
Leukocyte Adhesion Deficiency, Type I |
|
Leukocytosis, Skin ulcer |
OMIM:116920 |
Mucopolysaccharidosis, Type Iva |
|
Hepatomegaly, Inguinal hernia, Ovoid vertebral bodies, Hyperlordosis, Short neck, Grayish enamel,... |
OMIM:253000 |
Lysosomal Acid Lipase Deficiency |
|
Elevated hepatic transaminase, Failure to thrive, Fatal liver failure in infancy, Bone-marrow foa... |
ORPHA:275761 |
Neuroendocrine Tumor Of Stomach |
|
Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Weight loss, ... |
ORPHA:100075 |
Cholestasis-Lymphedema Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Neonatal cholesta... |
OMIM:214900 |
Hatipoglu Immunodeficiency Syndrome |
|
Inguinal hernia, Pancytopenia, Petechiae, Failure to thrive, Hyperpigmented/hypopigmented macules... |
OMIM:620331 |
Pleural Mesothelioma |
|
Hepatomegaly, Weight loss, Lymphadenopathy |
ORPHA:50251 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chr... |
ORPHA:100085 |
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Splenomegaly, Capillary malformation, Scoliosis, Lipoma, Nephroblastoma |
OMIM:612918 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Left ventricular hypertrophy, Flexion contracture, Scoliosis, Hyperlordosis |
OMIM:613156 |
Osteopetrosis, Autosomal Recessive 1 |
|
Sandwich appearance of vertebral bodies, Pancytopenia, Hepatomegaly, Splenomegaly, Anemia, Failur... |
OMIM:259700 |
Thrombocythemia 1 |
|
Splenomegaly, Thrombocytosis |
OMIM:187950 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
Caroli Disease |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Splenomegaly, ... |
ORPHA:53035 |
Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Lipodystrophy, Hyperlordosis, Spinal rigidity, Kyphosis, Achilles tendon contracture, ... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Lipodystrophy, Hyperlordosis, Spinal rigidity, Kyphosis, Achilles tendon contracture, ... |
ORPHA:98853 |
Atelosteogenesis, Type Ii |
|
Lumbar hyperlordosis, Cervical kyphosis, Short neck, Increased intervertebral space, Coronal clef... |
OMIM:256050 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Macule, Acute hepatic failure, Elevated hepatic transaminase, Eosinophilia, Erythema, Hepatitis, ... |
ORPHA:139402 |
Hypochondroplasia |
|
Scoliosis, Spinal canal stenosis, Abnormal form of the vertebral bodies, Hyperlordosis |
ORPHA:429 |
Anaplastic Thyroid Carcinoma |
|
Neoplasm of the skeletal system, Lymphadenopathy, Neoplasm of the lung, Malignant neoplasm of the... |
ORPHA:142 |
Q Fever |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatitis, Hepatosplenomegaly, Anemia,... |
ORPHA:781 |
Immunodeficiency 42 |
|
Splenomegaly, Hypoplasia of the thymus, Hepatomegaly |
OMIM:616622 |
Lynch Syndrome |
|
Benign neoplasm of the central nervous system, Glioblastoma multiforme, Pancreatic adenocarcinoma... |
ORPHA:144 |
Malignant Peritoneal Mesothelioma |
|
Ascites, Peritonitis, Neoplasm, Weight loss |
ORPHA:168811 |
Letterer-Siwe Disease |
|
Jaundice, Hepatosplenomegaly, Anemia, Pallor, Neutropenia, Thrombocytopenia |
OMIM:246400 |
Cohen Syndrome |
|
Thoracic scoliosis, Lumbar hyperlordosis, Small for gestational age, Leukopenia, Neutropenia, Chi... |
OMIM:216550 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal vein thrombosis, Splenomegaly, Portal hypertension, Hepatomegaly |
OMIM:610293 |
Pneumocystosis |
|
Weight loss, Neoplasm, Abnormal neutrophil count |
ORPHA:723 |
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Large for gestational age, Anemia, Bone marrow hypocellularity, Neutropenia, Umbilical hernia, Fa... |
OMIM:614520 |
Osteootohepatoenteric Syndrome |
|
Microvesicular hepatic steatosis, Cholestasis, Weight loss, Portal fibrosis, Hepatic fibrosis, Pr... |
OMIM:619377 |
Congenital Myopathy 4A, Autosomal Dominant |
|
Failure to thrive, Lumbar hyperlordosis, Limb joint contracture, Scoliosis |
OMIM:255310 |
Myasthenic Syndrome, Congenital, 16 |
|
Hyperlordosis |
OMIM:614198 |
Carney Triad |
|
Gastrointestinal stroma tumor, Mediastinal lymphadenopathy, Leiomyosarcoma, Lymphadenopathy, Adre... |
ORPHA:139411 |
Chronic Beryllium Disease |
|
Mediastinal lymphadenopathy, Abnormal proportion of CD4-positive T cells, Weight loss |
ORPHA:133 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Acute hepatic failure, Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotrans... |
OMIM:256810 |
Portal Hypertension, Noncirrhotic, 1 |
|
Elevated hepatic transaminase, Splenomegaly, Portal hypertension, Hepatomegaly |
OMIM:617068 |
Immunodeficiency, Common Variable, 1 |
|
Hepatomegaly, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased propo... |
OMIM:607594 |
Myopathy, Scapulohumeroperoneal |
|
Hyperlordosis, Achilles tendon contracture, Scoliosis, Increased connective tissue |
OMIM:616852 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Hamartomatous polyposis, Cachexia, Anemia |
OMIM:175500 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17 |
|
Lumbar hyperlordosis, Flexion contracture |
OMIM:613723 |
Glycogen Storage Disease Xii |
|
Normocytic anemia, Hepatomegaly, Short neck, Splenomegaly, Jaundice, Elevated circulating alanine... |
OMIM:611881 |
Granulomatosis With Polyangiitis |
|
Skin ulcer, Weight loss, Granulomatosis, Pancreatitis, Papule, Purpura |
ORPHA:900 |
Sickle Cell Disease |
|
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Jau... |
OMIM:603903 |
Systemic Capillary Leak Syndrome |
|
Leukocytosis, Pancreatitis, Multiple myeloma, Weight loss |
ORPHA:188 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Lymphopenia, Myelodysplasia, Thrombocytopenia, Subcutaneous nodule, Reticulocytopenia, Leukopenia... |
ORPHA:508542 |
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
|
Scoliosis, Ankle flexion contracture, Hyperlordosis |
OMIM:617760 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Failure to thrive, Skin erosion, Flexion contracture, Squamous cell carcinoma, Atypical scarring ... |
ORPHA:89842 |
Immunodeficiency 97 With Autoinflammation |
|
Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ... |
OMIM:619802 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Splenomegaly, Spherocytosis |
ORPHA:66518 |
Benign Recurrent Intrahepatic Cholestasis |
|
Elevated hepatic transaminase, Jaundice, Weight loss, Acholic stools, Cholestatic liver disease, ... |
ORPHA:65682 |
Pseudo-Torch Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Petechiae, Splenomegaly, Jaundice, Decreased liver f... |
OMIM:251290 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ic |
|
Skin ulcer |
OMIM:613640 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Small for gestational age, Kyphoscoliosis, Hyperlordosis, Increased vertebral height, Abnormal ve... |
OMIM:616817 |
Stiff-Person Syndrome |
|
Lumbar hyperlordosis, Anemia |
OMIM:184850 |
Myasthenic Syndrome, Congenital, 14 |
|
Hyperlordosis, Scoliosis, Knee flexion contracture |
OMIM:616228 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Hepatomegaly, Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Sp... |
ORPHA:436159 |
Chronic Graft Versus Host Disease |
|
Elevated hepatic transaminase, Fasciitis, Pancytopenia, Erythema, Flexion contracture, Intermitte... |
ORPHA:99921 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eosinophilia, Autoimmune thrombocytopenia, Hepatitis, Lymphadenopathy, Anemia, Coombs-positive he... |
OMIM:304790 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Splenomegaly, Autoimmune hemolytic anemia, Pallor |
ORPHA:90037 |
King-Denborough Syndrome |
|
Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Thoracic kyphosis, Scoliosis, Failure to thrive |
OMIM:619542 |
Parathyroid Carcinoma |
|
Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Fibroma, Weight loss, Uterine le... |
ORPHA:143 |
Mirage Syndrome |
|
Petechiae, Myelodysplasia, Thrombocytopenia, Leukopenia, Scoliosis, Decreased body weight, Hypopl... |
OMIM:617053 |
Tuberous Sclerosis Complex |
|
Epidermoid cyst, Angiofibromas, Pancreatic endocrine tumor, Subependymal giant-cell astrocytoma, ... |
ORPHA:805 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Failure to thrive, Cachexia, Weight loss |
OMIM:612075 |
Fanconi Anemia, Complementation Group E |
|
Pancytopenia, Anemic pallor, Small for gestational age, Thrombocytopenia, Reticulocytopenia, Neut... |
OMIM:600901 |
Diffuse Cutaneous Systemic Sclerosis |
|
Flexion contracture, Skin ulcer |
ORPHA:220393 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9 |
|
Lumbar hyperlordosis, Ankle flexion contracture |
OMIM:613818 |
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome |
|
Skin ulcer |
ORPHA:2218 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Slender build, Cachexia, Weight loss |
OMIM:613662 |
Late-Onset Isolated Acth Deficiency |
|
Normocytic anemia, Macrocytic anemia, Failure to thrive, Eosinophilia, Pituitary adenoma, Hepatit... |
ORPHA:199299 |
Myopathy, Distal, 1 |
|
Lumbar hyperlordosis, Scoliosis |
OMIM:160500 |
Mucopolysaccharidosis, Type Iiia |
|
Hepatomegaly, Inguinal hernia, Splenomegaly, Ovoid thoracolumbar vertebrae, Scoliosis, Umbilical ... |
OMIM:252900 |
Waldenström Macroglobulinemia |
|
Normocytic anemia, Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Monoclonal immunoglobu... |
ORPHA:33226 |
Leprosy |
|
Urticarial plaque, Hypopigmented macule, Abnormality of the spleen, Skin nodule, Penetrating foot... |
ORPHA:548 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Myelodysplasia, Thrombocytopenia, Hepatic necrosis, Leukopenia, Increased mean c... |
OMIM:127550 |
Gm1-Gangliosidosis, Type I |
|
Hepatomegaly, Inguinal hernia, Short neck, Splenomegaly, Kyphosis, Vacuolated lymphocytes, Hypopl... |
OMIM:230500 |
Acrocapitofemoral Dysplasia |
|
Ovoid vertebral bodies, Scoliosis, Hyperlordosis |
ORPHA:63446 |
Thymic Carcinoma |
|
Neoplasm of the thymus, Mediastinal lymphadenopathy, Weight loss |
ORPHA:99868 |
Peritoneal Cystic Mesothelioma |
|
Peritonitis, Neoplasm, Weight loss |
ORPHA:168816 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Vertebral fusion, Biconvex vertebral bodies, Lumbar hyperlordosis, Ovoid vertebral bodies, Short ... |
ORPHA:93315 |
Gm1-Gangliosidosis, Type Ii |
|
Hepatomegaly, Splenomegaly, Hypoplastic vertebral bodies, Platyspondyly, Scoliosis, Sea-blue hist... |
OMIM:230600 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Hemo... |
OMIM:301078 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Lumbar hyperlordosis, Hypermelanotic macule, Kyphoscoliosis, Autoimmune thrombocytopenia, Increas... |
OMIM:607944 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6 |
|
Slender build, Hyperlordosis |
OMIM:615156 |
Insulin Autoimmune Syndrome |
|
Weight loss |
ORPHA:411593 |
Diamond-Blackfan Anemia 20 |
|
Erythroid hypoplasia, Anemia |
OMIM:618313 |
Nijmegen Breakage Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Glioma, B-cell lymphoma, Rhabdomyosarcoma, Short n... |
ORPHA:647 |
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Lumbar hyperlordosis, Scoliosis |
OMIM:618167 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Failure to thrive in infancy, Abnormal... |
ORPHA:79124 |
Schwartz-Jampel Syndrome, Type 1 |
|
Hip contracture, Inguinal hernia, Lumbar hyperlordosis, Shoulder flexion contracture, Cervical ky... |
OMIM:255800 |
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Persistence of hemoglobin F, Anterior concavity of thoracic vertebrae |
OMIM:617101 |
Pyomyositis |
|
Weight loss, Leukocytosis, Subcutaneous nodule, Testicular teratoma |
ORPHA:764 |
Fanconi Anemia, Complementation Group R |
|
Scoliosis, Bone marrow hypocellularity, Anemia, Nevus |
OMIM:617244 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, Eosin... |
OMIM:102700 |
Sepsis In Premature Infants |
|
Hepatomegaly, Small for gestational age, Thrombocytopenia, Leukocytosis, Splenomegaly, Jaundice, ... |
ORPHA:90051 |
Autosomal Dominant Spondylocostal Dysostosis |
|
Hyperlordosis, Short neck, Abnormal sacrum morphology, Vertebral segmentation defect, Scoliosis, ... |
ORPHA:1797 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Inguinal hernia, Hyperlordosis, Hypoplasia of the odontoid process, Platyspondyly, Scoliosis, C1-... |
OMIM:184250 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Acute pancreatitis, Splenomegaly, Lymphadenitis, Recurrent tonsillitis, Hepatos... |
OMIM:618935 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Leukocytosis, Jaundice, Lipid ac... |
ORPHA:20 |
Fanconi Anemia, Complementation Group P |
|
Pancytopenia, Cafe-au-lait spot, Anemia, Squamous cell carcinoma |
OMIM:613951 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iib |
|
Acral ulceration |
OMIM:613115 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Neoplasm of the adrenal cortex, Cachexia, Visceral angiomatosis, Subcutaneous nodule, Lymphoma, H... |
ORPHA:109 |
Infantile Liver Failure Syndrome 3 |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole... |
OMIM:618641 |
Juvenile Dermatomyositis |
|
Erythema, Dry skin, Skin ulcer, Weight loss |
ORPHA:93672 |
Fanconi Anemia, Complementation Group A |
|
Pancytopenia, Anemic pallor, Small for gestational age, Thrombocytopenia, Reticulocytopenia, Neut... |
OMIM:227650 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hemolytic anemia, Hepatomegaly, Absence of lymph node germinal center, Splenomegaly, Enlarged ton... |
OMIM:308230 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Increased mean platelet volume, Splenomegaly, Thrombocytopenia, Stomatocytosis,... |
OMIM:153670 |
Good Syndrome |
|
Abnormal leukocyte morphology, Mediastinal lymphadenopathy, Thymoma, Anemia, Aplasia/Hypoplasia o... |
ORPHA:169105 |
Immunodeficiency 47 |
|
Normocytic anemia, Accessory spleen, Hepatomegaly, Failure to thrive, Elevated hepatic transamina... |
OMIM:300972 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel... |
OMIM:601847 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Hepatosplenome... |
OMIM:603553 |
Mucopolysaccharidosis, Type Iiic |
|
Hepatomegaly, Kyphoscoliosis, Splenomegaly, Ovoid thoracolumbar vertebrae, Hernia, Beaking of ver... |
OMIM:252930 |
Myopathy, Centronuclear, 1 |
|
Flexion contracture, Hyperlordosis |
OMIM:160150 |
Progressive Pseudorheumatoid Arthropathy Of Childhood |
|
Irregularity of vertebral bodies, Thoracolumbar kyphoscoliosis, Hyperlordosis, Vertebral wedging,... |
ORPHA:1159 |
Systemic Sclerosis |
|
Barrett esophagus, Cutaneous sclerotic plaque, Digital pitting scar, Flexion contracture, Spotty ... |
ORPHA:90291 |
Mucopolysaccharidosis Type 6 |
|
Ovoid vertebral bodies, Short neck, Splenomegaly, Kyphosis, Hernia, Failure to thrive |
ORPHA:583 |
Attenuated Chédiak-Higashi Syndrome |
|
Skin ulcer |
ORPHA:352723 |
Mucolipidosis Iii Gamma |
|
Hyperlordosis, Kyphosis, Scoliosis, Short neck |
OMIM:252605 |
Amoebiasis Due To Entamoeba Histolytica |
|
Elevated hepatic transaminase, Liver abscess, Leukocytosis, Weight loss, Anemia |
ORPHA:67 |
Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Petechiae, Cardiomegaly, Thrombocytopenia, Splenomegaly, Hepatic failure, Hepatospl... |
OMIM:608013 |
Chronic Hiccup |
|
Weight loss |
ORPHA:396 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Diffuse leiomyomatosis, Vulvar neoplasm, Tracheobronchial leiomyomatosis, Vaginal neoplasm, Esoph... |
ORPHA:1018 |
Mcdonough Syndrome |
|
Kyphosis, Cachexia, Scoliosis |
ORPHA:2471 |
Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Abnormal eosinophil morphology, Hepatic fibrosis, Neoplasm of the gallblad... |
ORPHA:171 |
Brucellosis |
|
Hepatomegaly, Failure to thrive, Liver abscess, Small for gestational age, Hypersplenism, Thrombo... |
ORPHA:1304 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Hepatomegaly, Sacral dimple, Lumbar hyperlordosis, Increased intervertebral space, Decreased prop... |
ORPHA:508533 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, He... |
OMIM:235555 |
Ménétrier Disease |
|
Hypochromic microcytic anemia, Weight loss |
ORPHA:2494 |
Pycnodysostosis |
|
Hyperlordosis, Overweight, Kyphosis, Hepatosplenomegaly, Spondylolysis, Scoliosis, Enamel hypopla... |
ORPHA:763 |
Wieacker-Wolff Syndrome |
|
Hyperlordosis, Short neck, Kyphosis, Congenital foot contractures, Scoliosis, Camptodactyly, Arth... |
OMIM:314580 |
Multiple Myeloma |
|
Splenomegaly, Weight loss, Lymphadenopathy, Vertebral compression fracture, Anemia |
ORPHA:29073 |
Idiopathic Aplastic Anemia |
|
Pancytopenia, Thrombocytopenia, Reticulocytopenia, Bone marrow hypocellularity, Neutropenia, Ecch... |
ORPHA:88 |
Familial Tumoral Calcinosis |
|
Hepatomegaly, Splenomegaly, Erythema, Subcutaneous nodule, Hypopigmented skin patches, Neoplasm o... |
ORPHA:53715 |
Neuropathy, Congenital, With Arthrogryposis Multiplex |
|
Arthrogryposis multiplex congenita, Hyperlordosis |
OMIM:162370 |
Hirschsprung Disease |
|
Neoplasm of the thyroid gland, Failure to thrive in infancy, Weight loss |
ORPHA:388 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Leukopenia, Hemophagocytosis, Fail... |
OMIM:267700 |
Cartilage-Hair Hypoplasia |
|
Hepatomegaly, Sacral dimple, Abnormally ossified vertebrae, Biconvex vertebral bodies, Short neck... |
ORPHA:175 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
|
Back pain, Hyperlordosis |
OMIM:618129 |
Rat-Bite Fever |
|
Back pain, Abdominal aseptic abscess, Lymphadenitis, Weight loss, Scaling skin, Pancreatitis, Anemia |
ORPHA:31205 |
Pearson Marrow-Pancreas Syndrome |
|
Elevated hepatic transaminase, Sideroblastic anemia, Pancytopenia, Hepatomegaly, Pancreatic fibro... |
OMIM:557000 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Aplasia cutis congenita on trunk or limbs, Scarring, Erythema, Atrophic scars, Squamous cell carc... |
ORPHA:79396 |
Adult-Onset Still Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Neutrophilia, Generalized lymphadenopathy, Splenomeg... |
ORPHA:829 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Thoracolumbar scoliosis, Ovoid vertebral bodies, Hyperlordosis, Thoracic platyspondyly, Kyphosis,... |
OMIM:618019 |
Fanconi Anemia, Complementation Group V |
|
Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia |
OMIM:617243 |
Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Scoliosis, Hyperlordosis |
ORPHA:1387 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hepatomegaly, ... |
ORPHA:280365 |
Non-Functioning Paraganglioma |
|
Paraganglioma of head and neck, Pallor, Paraganglioma, Weight loss |
ORPHA:94080 |
Holocarboxylase Synthetase Deficiency |
|
Thrombocytopenia, Weight loss |
ORPHA:79242 |
Stevens-Johnson Syndrome |
|
Macule, Acute hepatic failure, Elevated hepatic transaminase, Abnormality of neutrophils, Erythem... |
ORPHA:36426 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Splenomegaly, Jaundice, Intrah... |
OMIM:607765 |
Copper Deficiency, Familial Benign |
|
Failure to thrive, Anemia |
OMIM:121270 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, S... |
OMIM:613812 |
Gaisböck Syndrome |
|
Overweight, Splenomegaly, Increased mean corpuscular hemoglobin concentration, Obesity, Increased... |
ORPHA:90041 |
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
Severe failure to thrive, HbH hemoglobin, Prolonged neonatal jaundice |
ORPHA:423479 |
Turcot Syndrome With Polyposis |
|
Glioblastoma multiforme, Astrocytoma, Epidermoid cyst, Brain neoplasm, Soft tissue neoplasm, Glio... |
ORPHA:99818 |
Retinoblastoma |
|
Glioma, Rhabdomyosarcoma, Lymphoma, Pineoblastoma, Leiomyosarcoma, Melanoma, Cellulitis, Retinobl... |
ORPHA:790 |
Three M Syndrome 3 |
|
Small for gestational age, Hyperlordosis, Short neck, Increased vertebral height, Decreased body ... |
OMIM:614205 |
Multiple Endocrine Neoplasia Type 1 |
|
Angiofibromas, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancrea... |
ORPHA:652 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ia |
|
Acral ulceration |
OMIM:162400 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Skin ulcer |
ORPHA:1806 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Cholangiocarcinoma, Portal hypertension, Cardiomegaly, Splenomegaly, Weight loss, C... |
ORPHA:465508 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Lumbar hyperlordosis, Short neck, Thrombocytopenia, Flexion contracture, Hepatosplenomegaly, Lumb... |
ORPHA:505248 |
Hurler-Scheie Syndrome |
|
Hepatomegaly, Inguinal hernia, Camptodactyly of finger, Splenomegaly, Contracture of the distal i... |
OMIM:607015 |
Isaacs Syndrome |
|
Weight loss |
ORPHA:84142 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal erythrocyte enzyme level, Splenomegaly, Hep... |
ORPHA:264580 |
Cryptogenic Organizing Pneumonia |
|
Leukocytosis, Neutrophilia, Weight loss |
ORPHA:1302 |
Mucopolysaccharidosis, Type Ivb |
|
Hepatomegaly, Inguinal hernia, Ovoid vertebral bodies, Hyperlordosis, Grayish enamel, Hypoplasia ... |
OMIM:253010 |
Proteus-Like Syndrome |
|
Thymus hyperplasia, Exostoses, Epidermal nevus, Splenomegaly, Hemangioma, Subcutaneous lipoma, Sh... |
ORPHA:2969 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Splenomegaly, Intrah... |
OMIM:619849 |
Whipple Disease |
|
Hepatomegaly, Cachexia, Splenomegaly, Mediastinal lymphadenopathy, Anemia |
ORPHA:3452 |
Adult Syndrome |
|
Dry skin, Thin skin, Skin ulcer, Melanocytic nevus |
ORPHA:978 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Pallor, Poikilocytosis, Anemia |
OMIM:616959 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Cirrhosis,... |
OMIM:211600 |
Cowden Syndrome 6 |
|
Skin tags, Kyphosis, Fibroadenoma of the breast, Breast carcinoma, Hamartomatous polyposis, Menin... |
OMIM:615109 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Back pain, Lumbar hyperlordosis |
OMIM:167320 |
Usmani-Riazuddin Syndrome, Autosomal Dominant |
|
Lumbar hyperlordosis, Thoracic kyphosis |
OMIM:619467 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Po... |
OMIM:602347 |
Shwachman-Diamond Syndrome |
|
Normocytic anemia, Transient neutropenia, Aplastic anemia, Leukopenia, Neutropenia, Pancreatic hy... |
ORPHA:811 |
Pseudoachondroplasia |
|
Lumbar hyperlordosis, Hypoplasia of the odontoid process, Abnormal form of the vertebral bodies, ... |
ORPHA:750 |
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Hepatomegaly, Thoracolumbar scoliosis, Hyperlordosis, Kyphosis, Obesity, Scoliosis |
OMIM:618443 |
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome |
|
Splenomegaly, Pancytopenia |
OMIM:614979 |
Syndromic Diarrhea |
|
Lymphopenia, Inguinal hernia, Hepatomegaly, Small for gestational age, Increased mean platelet vo... |
ORPHA:84064 |
Dyskeratosis Congenita, Digenic |
|
Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin, Failure to thrive, Anemia |
OMIM:620040 |
Alexander Disease Type I |
|
Cachexia, Failure to thrive, Scoliosis |
ORPHA:363717 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Hepatomegaly, Inguinal hernia, Failure to thrive, Intermittent thrombocytopenia, Erythroid hypopl... |
OMIM:612541 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Fibroma, Parathyroid adenoma, Ut... |
ORPHA:99880 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Hip contracture, Failure to thrive in infancy, Cachexia, Short neck, Scoliosis |
OMIM:616801 |
Typical Nemaline Myopathy |
|
Hyperlordosis, Short neck, Kyphosis, Spinal rigidity, Flexion contracture, Scoliosis, Arthrogrypo... |
ORPHA:171436 |
Multiple Endocrine Neoplasia Type 2 |
|
Reduced subcutaneous adipose tissue, Multiple mucosal neuromas, Cervical neoplasm, Paraganglioma ... |
ORPHA:653 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Leukocytosis, Hypereosinophilia, Weight loss |
ORPHA:2902 |
Jansen-De Vries Syndrome |
|
Central diaphragmatic hernia, Hyperlordosis |
OMIM:617450 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Kyphoscoliosis, Kyphosis, Reduced alpha/beta synthesis ratio, Hemivertebrae, Hypochromic microcyt... |
OMIM:301040 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Left ventricular hypertrophy, Lumbar hyperlordosis, Scoliosis, Spinal rigidity |
ORPHA:86812 |
Idiopathic Hypereosinophilic Syndrome |
|
Generalized lymphadenopathy, Cholangitis, Pallor, Papule, Neutrophilia, Myelodysplasia, Leukocyto... |
ORPHA:3260 |
Charcot-Marie-Tooth Disease Type 4B2 |
|
Kyphoscoliosis, Penetrating foot ulcers, Scoliosis |
ORPHA:99956 |
Ileal Neuroendocrine Tumor |
|
Elevated hepatic transaminase, Extrahepatic cholestasis, Weight loss, Lymphadenopathy, Iron defic... |
ORPHA:100078 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Portal hypertension, Splenomegaly... |
OMIM:251880 |
Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
Plague |
|
Hepatomegaly, Splenomegaly, Localized skin lesion, Lymphadenitis, Skin ulcer, Enlarged mesenteric... |
ORPHA:707 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Abnormality of the vertebral column, Hepatic steatosis, Hyperlordosis |
ORPHA:52430 |
Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Leukocytosis, Weight loss, Pallor, Thrombocytosis |
ORPHA:134 |
Xfe Progeroid Syndrome |
|
Elevated hepatic transaminase, Failure to thrive, Cachexia, Absence of subcutaneous fat, Corneal ... |
OMIM:610965 |
Nephronophthisis 19 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... |
OMIM:616217 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenop... |
OMIM:616100 |
Igg4-Related Aortitis |
|
Low back pain, Hypereosinophilia, Weight loss |
ORPHA:449400 |
Legius Syndrome |
|
Acute monocytic leukemia, Non-small cell lung carcinoma, Neurofibroma, Desmoid tumors, Ovarian ne... |
ORPHA:137605 |
Juvenile Polyposis Of Infancy |
|
Refractory anemia, Subcutaneous lipoma, Cachexia, Hamartomatous polyposis, Hemangioblastoma, Hema... |
ORPHA:79076 |
Mucopolysaccharidosis Type 7 |
|
Inguinal hernia, Anterior beaking of lower thoracic vertebrae, Short neck, Splenomegaly, Hepatiti... |
ORPHA:584 |
Arthrogryposis, Distal, Type 3 |
|
Lumbar hyperlordosis, Camptodactyly of finger, Thoracolumbar scoliosis, Short neck, Kyphoscoliosi... |
OMIM:114300 |
Congenital Erythropoietic Porphyria |
|
Hemolytic anemia, Reticulocytosis, Scarring, Anisocytosis, Increased connective tissue, Scarring ... |
ORPHA:79277 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Vertebral fusion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Scoliosis, Butterfly vertebrae |
ORPHA:313892 |
Oculopharyngodistal Myopathy |
|
Weight loss |
ORPHA:98897 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Right ventricular hypertrophy, Flexion contracture, Scoliosis, Hyperlordosis |
OMIM:253700 |
Oculoskeletodental Syndrome |
|
Enamel hypoplasia, Thoracic kyphosis, Scoliosis, Hyperlordosis |
ORPHA:557003 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Vertebral fusion, Hyperlordosis, Kyphosis, Achilles tendon contracture, Scoliosis |
OMIM:607155 |
Mcleod Syndrome |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Acanthocytosis, Sple... |
OMIM:300842 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, H... |
OMIM:607626 |
Grfoma |
|
Neoplasm of the pancreas, Hepatomegaly, Neoplasm of the thymus, Intrahepatic cholestasis, Pituita... |
ORPHA:97261 |
Dysostosis, Stanescu Type |
|
Abnormal dental enamel morphology, Hyperlordosis, Short neck, Kyphosis, Scoliosis, Exostoses |
ORPHA:1798 |
Huntington Disease-Like 2 |
|
Weight loss |
OMIM:606438 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Cachexia, Cardiomegaly, Distal arthrogryposis, Decre... |
ORPHA:42 |
Spondyloepiphyseal Dysplasia Tarda |
|
Back pain, Abnormally ossified vertebrae, Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Hypop... |
ORPHA:93284 |
Myopathy, Myofibrillar, 7 |
|
Multiple joint contractures, Lumbar hyperlordosis, Shoulder flexion contracture, Spinal rigidity,... |
OMIM:617114 |
Desbuquois Dysplasia 1 |
|
Hyperlordosis, Short neck, Kyphosis, Obesity, Platyspondyly, Scoliosis |
OMIM:251450 |
Thoracomelic Dysplasia |
|
Hyperlordosis, Short neck |
ORPHA:1803 |
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type |
|
Lumbar hyperlordosis |
ORPHA:156728 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Skin tags, Lumbar hyperlordosis, Redundant skin, Kyphosis, Uterine leiomyoma, Platyspondyly, Palm... |
OMIM:616482 |
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Cachexia |
ORPHA:1216 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Hepatomegaly, Thrombocytopenia, Splenomegaly, Jaundice... |
OMIM:214500 |
Attrv30M Amyloidosis |
|
Weight loss, Cardiomegaly |
ORPHA:85447 |
Epiphyseal Dysplasia, Multiple, With Miniepiphyses |
|
Lumbar hyperlordosis |
OMIM:609325 |
Three M Syndrome 1 |
|
Small for gestational age, Hyperlordosis, Short neck, Increased vertebral height, Spina bifida oc... |
OMIM:273750 |
Congenital Myasthenic Syndromes With Glycosylation Defect |
|
Lumbar hyperlordosis, Flexion contracture, Scoliosis, Knee flexion contracture |
ORPHA:353327 |
Immunodeficiency 31C |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an... |
OMIM:614162 |
Mucopolysaccharidosis Type 4 |
|
Abnormal dental enamel morphology, Hyperlordosis, Short neck, Grayish enamel, Kyphosis, Spinal ca... |
ORPHA:582 |
Al Amyloidosis |
|
Hepatomegaly, Howell-Jolly bodies, Weight loss, Abnormality of the liver, Anemia |
ORPHA:85443 |
Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Hyperlordosis |
ORPHA:970 |
Bethlem Myopathy |
|
Multiple joint contractures, Lumbar hyperlordosis, Interphalangeal joint contracture of finger, A... |
ORPHA:610 |
Porphyria, Congenital Erythropoietic |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Corneal scarring, Atypical scarring of sk... |
OMIM:263700 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Elevated hepatic transaminase, Skin ulcer, Atypical scarring of skin, Neutropenia, Anemia |
ORPHA:95455 |
Hereditary Mixed Polyposis Syndrome |
|
Refractory anemia, Endometrial carcinoma, Juvenile colonic polyposis, Desmoid tumors, Thyroid car... |
ORPHA:157794 |
Leukocyte Adhesion Deficiency |
|
Acute myeloid leukemia, Leukocytosis, Peritonitis, Pyoderma gangrenosum, Recurrent tonsillitis, B... |
ORPHA:2968 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Cervical platyspondyly, Lumbar hyperlordosis, Limb joint contracture, Increased intervertebral sp... |
ORPHA:93314 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Failure to thrive in infancy, Splenomegaly, Microvesicular hepati... |
OMIM:619418 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant |
|
Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Irregular v... |
OMIM:184100 |
Acromesomelic Dysplasia, Grebe Type |
|
Sarcoma |
ORPHA:2098 |
Joubert Syndrome 37 |
|
Hepatomegaly, Lumbar hyperlordosis, Obesity |
OMIM:619185 |
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome |
|
Inguinal hernia, Hyperlordosis, Short neck, Abnormal form of the vertebral bodies, Umbilical hernia |
ORPHA:3218 |
Isolated Biliary Atresia |
|
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Atretic gallbladder, Sple... |
ORPHA:30391 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4 |
|
Flexion contracture, Hyperlordosis |
OMIM:611588 |
Gallbladder Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy, Biliary tract neoplasm, Extrahepatic cholestasis, Intermit... |
ORPHA:100086 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... |
OMIM:617394 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Hepatomegaly, Failure to thrive, Perianal erythema, Splenomegaly, Perioral erythema, Dry skin |
OMIM:201100 |
Hermansky-Pudlak Syndrome |
|
Abnormal dental enamel morphology, Melanocytic nevus, Weight loss, Basal cell carcinoma, Squamous... |
ORPHA:79430 |
Attenuated Familial Adenomatous Polyposis |
|
Astrocytoma, Uterine leiomyoma, Papilloma, Thyroid adenoma, Adenocarcinoma of the colon, Fibroma |
ORPHA:220460 |
Ppoma |
|
Neoplasm of the pancreas, Hepatomegaly, Intrahepatic cholestasis, Pituitary adenoma, Abnormal abd... |
ORPHA:97278 |
Pachydermoperiostosis |
|
Hepatomegaly, Splenomegaly, Neoplasm of the lung, Neoplasm of the skin, Scoliosis, Anemia |
ORPHA:2796 |
Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
Juvenile Huntington Disease |
|
Weight loss |
ORPHA:248111 |
Neuroendocrine Tumor Of The Colon |
|
Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Weight loss, ... |
ORPHA:100080 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y |
|
Lumbar hyperlordosis |
ORPHA:435387 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Thoracolumbar scoliosis, Kyphoscoliosis, Hyperlordosis, Thoracic platyspondyly, Short neck, Platy... |
ORPHA:457395 |
Loeffler Endocarditis |
|
Left ventricular hypertrophy, Eosinophilia, Weight loss |
ORPHA:75566 |
Isolated Succinate-Coq Reductase Deficiency |
|
Left ventricular hypertrophy, Weight loss, Knee flexion contracture |
ORPHA:3208 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatocellular adenoma, Increased body... |
ORPHA:79240 |
Addison Disease |
|
Normocytic anemia, Thiamine-responsive megaloblastic anemia, Dry skin, Thymoma, Weight loss, Fail... |
ORPHA:85138 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, B-cell lymphoma, Follicular hyperplasia, Splenomegaly, Hep... |
OMIM:619381 |
Insulin-Resistance Syndrome Type B |
|
Enlarged ovaries, Abnormality of body weight, Enlarged polycystic ovaries, Lymphoma, Biliary cirr... |
ORPHA:2298 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis, Hyperlordosis |
ORPHA:369840 |
Congenital Myopathy 10B, Mild Variant |
|
Achilles tendon contracture, Elbow contracture, Scoliosis, Hyperlordosis |
OMIM:620249 |
Beckwith-Wiedemann Syndrome |
|
Redundant skin, Congenital diaphragmatic hernia, Cardiomegaly, Large for gestational age, Leiomyo... |
ORPHA:116 |
Hyperparathyroidism, Neonatal Severe |
|
Splenomegaly, Failure to thrive, Anemia, Hepatomegaly |
OMIM:239200 |
Hemophagocytic Syndrome Associated With An Infection |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Abnormal T cell subset d... |
ORPHA:158048 |
Lymphedema-Distichiasis Syndrome |
|
Fibrosarcoma |
ORPHA:33001 |
Zollinger-Ellison Syndrome |
|
Pituitary null cell adenoma, Pituitary corticotropic cell adenoma, Adrenocortical carcinoma, Pitu... |
ORPHA:913 |
Aicardi-Goutieres Syndrome 7 |
|
Hemolytic anemia, Pancytopenia, Generalized lymphadenopathy, Hepatomegaly, Splenomegaly, Hepatiti... |
OMIM:615846 |
Polymyositis |
|
Breast carcinoma, Weight loss, Chondrocalcinosis, Hepatomegaly |
ORPHA:732 |
Moynahan Syndrome |
|
Cachexia |
ORPHA:2574 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Eosinophilia, Subcutaneous nodule, Hypopigmented skin patches, Weight loss, Papule, Purpura |
ORPHA:183 |
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Cachexia |
ORPHA:1144 |
Neuropathy, Hereditary Sensory And Autonomic, Type V |
|
Low back pain, Acral ulceration |
OMIM:608654 |
Lead Poisoning |
|
Small for gestational age, Imbalanced hemoglobin synthesis, Anemia, Abnormal T cell morphology |
ORPHA:330015 |
Gaucher Disease, Type Ii |
|
Hepatomegaly, Splenomegaly, Anemia, Failure to thrive, Thrombocytopenia |
OMIM:230900 |
Autosomal Recessive Centronuclear Myopathy |
|
Left ventricular hypertrophy, Hip contracture, Hyperlordosis |
ORPHA:169186 |
Retinoblastoma |
|
Lymphoma, Retinoblastoma, Leukemia, Ewing sarcoma, Pinealoma, Osteosarcoma |
OMIM:180200 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Lumbar hyperlordosis, Irregular vertebral endplates, Platyspondyly, Scoliosis, Beaking of vertebr... |
OMIM:609616 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Lumbar hyperlordosis, Small for gestational age, Overweight, Lumbar scoliosis, Cervical C2/C3 ver... |
OMIM:617796 |
Trichodermodysplasia-Dental Alterations Syndrome |
|
Hyperlordosis, Adenoma sebaceum, Scoliosis, Neoplasm of the skin, Multiple cafe-au-lait spots |
ORPHA:3353 |
Mucopolysaccharidosis, Type Vi |
|
Hepatomegaly, Inguinal hernia, Lumbar hyperlordosis, Ovoid vertebral bodies, Kyphoscoliosis, Ante... |
OMIM:253200 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Failure to thrive, Scoliosis, Hyperlordosis |
OMIM:300986 |
Inflammatory Pseudotumor Of The Liver |
|
Elevated circulating aspartate aminotransferase concentration, Abnormal liver sonography, Elevate... |
ORPHA:90003 |
Three M Syndrome 2 |
|
Hyperlordosis, Lumbar hyperlordosis, Small for gestational age, Short neck |
OMIM:612921 |
Fish-Eye Disease |
|
Splenomegaly, Lymphadenopathy, Hepatomegaly |
ORPHA:79292 |
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
Preauricular pit, Hepatomegaly, Hyperlordosis, Hypoplasia of the odontoid process, Irregular vert... |
OMIM:226980 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Abnormal form of the vertebral bodies, Hyperlordosis |
ORPHA:2831 |
Christianson Syndrome |
|
Arthrogryposis multiplex congenita, Cachexia |
ORPHA:85278 |
Lysinuric Protein Intolerance |
|
Hepatomegaly, Splenomegaly, Cutis laxa, Anemia, Leukopenia, Truncal obesity, Hemophagocytosis, Fa... |
OMIM:222700 |
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Hip contracture, Cachexia, Short neck, Elbow flexion contracture, Knee flexion contracture, Scoli... |
ORPHA:371364 |
Juvenile Polyposis Syndrome |
|
Duodenal adenocarcinoma, Failure to thrive, Anemia |
OMIM:174900 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, B lymphocytopenia |
OMIM:616084 |
Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Platyspondyly, Hump-shaped mound of bone i... |
OMIM:313400 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Adrenal pheochromocytoma, Weight l... |
ORPHA:276621 |
Proteus Syndrome |
|
Neoplasm of the thymus, Subcutaneous nodule, Abnormal form of the vertebral bodies, Neoplasm of t... |
ORPHA:744 |
Bullous Pemphigoid |
|
Macule, Erythema, Weight loss |
ORPHA:703 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Elevated hepatic transaminase, Autoimmune hemolytic anemia, Failure to thrive in infancy, Cachexi... |
ORPHA:37042 |
Multiple Endocrine Neoplasia, Type Iib |
|
Failure to thrive in infancy, Hyperlordosis, Kyphosis, Pheochromocytoma, Scoliosis, Medullary thy... |
OMIM:162300 |
Immunoglobulin A Vasculitis |
|
Macule, Erythema, Skin ulcer, Purpura |
ORPHA:761 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 |
|
Hyperlordosis |
OMIM:613157 |
Frontorhiny |
|
Pericallosal lipoma, Lumbar hyperlordosis, Camptodactyly of finger, Dermoid cyst, Scoliosis, Prea... |
ORPHA:391474 |
Schwartz-Jampel Syndrome |
|
Hip contracture, Inguinal hernia, Abnormally ossified vertebrae, Shoulder flexion contracture, Ca... |
ORPHA:800 |
Lateral Meningocele Syndrome |
|
Inguinal hernia, Hyperlordosis, Short neck, Kyphosis, Abnormal form of the vertebral bodies, Scol... |
ORPHA:2789 |
Amyotrophic Lateral Sclerosis 27, Juvenile |
|
Scoliosis, Hyperlordosis |
OMIM:620285 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Coronal cleft vertebrae, Butterfly vertebrae, Scoliosis, Hyperlordosis |
OMIM:618870 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Platyspondyly, Lumbar hyperlordosis, Hypoplastic sacrum |
OMIM:271650 |
3M Syndrome |
|
Abnormal dental enamel morphology, Hyperlordosis, Short neck, Increased vertebral height, Kyphosi... |
ORPHA:2616 |
Neuroendocrine Tumor Of The Rectum |
|
Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Weight loss, ... |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Weight loss, ... |
ORPHA:100082 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
|
Kyphosis, Atrophic scars, Scoliosis, Hyperlordosis |
OMIM:617821 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Hepatomegaly, Hyperlordosis, Obesity, Hepatosplenomegaly, Cholecystitis, Umbilical hernia, Cholel... |
OMIM:301066 |
Muscular Dystrophy, Duchenne Type |
|
Hyperlordosis, Achilles tendon contracture, Flexion contracture, Hamstring contractures, Knee fle... |
OMIM:310200 |
Glossopharyngeal Neuralgia |
|
Schwannoma, Neoplasm, Abnormality of the cervical spine, Weight loss |
ORPHA:221098 |
Short Syndrome |
|
Inguinal hernia, Lipodystrophy, Abnormal dental enamel morphology, Weight loss, Excessive wrinkle... |
ORPHA:3163 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Kyphosis, Multiple joint contractures, Scoliosis, Hyperlordosis |
OMIM:128100 |
Tangier Disease |
|
Orange discolored tonsils, Chronic noninfectious lymphadenopathy, Hepatosplenomegaly, Anemia, Lef... |
ORPHA:31150 |
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome |
|
Vertebral segmentation defect, Camptodactyly of finger, Scoliosis, Hyperlordosis |
ORPHA:1323 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Stomatocytosis |
OMIM:608885 |
Central Diabetes Insipidus |
|
Failure to thrive, Weight loss |
ORPHA:178029 |
Developmental And Epileptic Encephalopathy 50 |
|
Acanthocytosis, Schistocytosis, Anisopoikilocytosis, Failure to thrive, Anemia |
OMIM:616457 |
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous |
|
Enamel hypoplasia, Skin ulcer, Amelogenesis imperfecta |
OMIM:245660 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Arachnoid hemangiomatosis, Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Adrenal... |
ORPHA:29072 |
Hypochondroplasia |
|
Widened interpedicular distance, Lumbar hyperlordosis |
OMIM:146000 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Hepatomegaly, Neutrophilia, Failure to thrive in infancy, Splenomegaly, Fused cervical vertebrae |
OMIM:612852 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Lumbar hyperlordosis, Obesity, Irregular vertebral endplates, Platyspondyly, Abnormal vertebral m... |
ORPHA:174 |
Fanconi Anemia |
|
Pyridoxine-responsive sideroblastic anemia, Myelodysplasia, Hypopigmented skin patches, Weight lo... |
ORPHA:84 |
Mucolipidosis Type Ii |
|
Hip contracture, Inguinal hernia, Splenomegaly, Kyphosis, Hepatosplenomegaly, Knee flexion contra... |
ORPHA:576 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Preauricular pit, Hepatomegaly, Pancreatic fibrosis, Portal hypertension, Malformation of the hep... |
OMIM:208540 |
Renal Nutcracker Syndrome |
|
Anemia, Weight loss |
ORPHA:71273 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Flexion contracture, Abnormal hemoglobin, Anemia |
ORPHA:847 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Hyperlordosis, Abnormal T cell subset distribution, B lymphocytopenia, Decreased proportion of CD... |
ORPHA:221139 |
Spinocerebellar Ataxia 48 |
|
Cachexia |
OMIM:618093 |
Hereditary Orotic Aciduria |
|
Splenomegaly, Anemia |
ORPHA:30 |
Achondroplasia |
|
Lumbar hyperlordosis, Kyphosis, Spinal canal stenosis, Obesity, Thoracolumbar kyphosis, Cervical ... |
ORPHA:15 |
Adrenocortical Carcinoma |
|
Adrenocortical carcinoma, Increased body weight, Weight loss, Lung adenocarcinoma, Striae distensae |
ORPHA:1501 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hyperlordosis, Decreased liver f... |
ORPHA:26791 |
Huntington Disease |
|
Decreased body mass index, Weight loss |
ORPHA:399 |
Scapuloperoneal Spinal Muscular Atrophy |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:181405 |
Hyper-Igd Syndrome |
|
Neutrophilia, Splenomegaly, Leukocytosis, Lymphadenitis, Hepatosplenomegaly, Lymphadenopathy, Ren... |
OMIM:260920 |
Klatskin Tumor |
|
Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy, Weight loss |
ORPHA:99978 |
Hereditary Central Diabetes Insipidus |
|
Weight loss |
ORPHA:30925 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Macule, Kyphoscoliosis, Hyperlordosis, Schwannoma, Ossifying fibroma, Scoliosis, Lisch nodules, N... |
ORPHA:363700 |
Bronchial Neuroendocrine Tumor |
|
Hepatomegaly, Chronic noninfectious lymphadenopathy, Weight loss, Pulmonary carcinoid tumor, Hepa... |
ORPHA:97287 |
Lymphoid Interstitial Pneumonia |
|
Hepatomegaly, Mediastinal lymphadenopathy, Weight loss, Abnormality of connective tissue, Failure... |
ORPHA:79128 |
Gray Platelet Syndrome |
|
Splenomegaly, Thrombocytopenia, Abnormal number of alpha granules |
OMIM:139090 |
Smith-Mccort Dysplasia 2 |
|
Hyperlordosis, Short neck, Hypoplasia of the odontoid process, Platyspondyly, Decreased body weight |
OMIM:615222 |
Steel Syndrome |
|
Lumbar hyperlordosis, Scoliosis |
OMIM:615155 |
Pemphigus Vulgaris |
|
Atypical scarring of skin, Weight loss |
ORPHA:704 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iia |
|
Acral ulceration |
OMIM:201300 |
Mucopolysaccharidosis, Type X |
|
Hyperlordosis, Platyspondyly, Posterior scalloping of vertebral bodies, Scoliosis, Left ventricul... |
OMIM:619698 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Cholelithiasis, Recurrent tonsillitis, Failure to thrive in infancy, Weight loss |
ORPHA:171876 |
Blau Syndrome |
|
Camptodactyly of finger, Flexion contracture of toe, Intermittent generalized erythematous papula... |
OMIM:186580 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Acute pancreatitis, Elevated hepatic transamin... |
OMIM:269700 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Weight loss, Lymphadenopathy |
ORPHA:411703 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Cachexia, Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin, Dermal atrophy, Dr... |
ORPHA:220295 |
Acute Adrenal Insufficiency |
|
Normocytic anemia, Failure to thrive, Dry skin, Weight loss |
ORPHA:95409 |
Graves Disease, Susceptibility To, 1 |
|
Abnormal abdomen morphology, Weight loss |
OMIM:275000 |
Tyrosinemia, Type I |
|
Acute hepatic failure, Hepatomegaly, Failure to thrive, Elevated hepatic transaminase, Splenomega... |
OMIM:276700 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Irregular vertebral endplates, Platyspondyly, Lumbar hyperlordosis, Scoliosis |
OMIM:156500 |
Huntington Disease-Like 1 |
|
Weight loss |
ORPHA:157941 |
Kindler Epidermolysis Bullosa |
|
Aplasia/Hypoplasia of the skin, Abnormal dental enamel morphology, Camptodactyly of finger, Eryth... |
ORPHA:2908 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Weight loss, Iron deficiency anemia, Lymphocytosis, Thrombocytosis, Reduced natural killer cell c... |
OMIM:301074 |
Erdheim-Chester Disease |
|
Retroperitoneal fibrosis, Xanthelasma, Anemia, Weight loss |
ORPHA:35687 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Thoracolumbar scoliosis, Portal hypertension, Hiatus hernia, Pancreatic cysts, Sple... |
OMIM:610199 |
Insensitivity To Pain, Congenital, With Anhidrosis |
|
Acral ulceration, Corneal scarring |
OMIM:256800 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Macule, Fasciitis, Hypermelanotic macule, Splenomegaly, Leukocytosis, Erythema, Abnormal sacroili... |
ORPHA:32960 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Lumbar hyperlordosis, Kyphoscoliosis, Platyspondyly, Thoracic kyphosis, Neutropenia, Biconcave ve... |
OMIM:271510 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Flexion contracture of finger, Failure to thrive, Li... |
OMIM:256040 |
Tropical Pancreatitis |
|
Pancreatic adenocarcinoma, Jaundice, Weight loss, Chronic calcifying pancreatitis, Abnormal pancr... |
ORPHA:103918 |
Sarcoidosis |
|
Hemolytic anemia, Hepatomegaly, Scarring, Eosinophilia, Portal hypertension, Thrombocytopenia, Sk... |
ORPHA:797 |
Carney Complex |
|
Atypical nevi in non-sun exposed areas, Hepatocellular carcinoma, Increased body weight, Thyroid ... |
ORPHA:1359 |
Pelizaeus-Merzbacher Disease |
|
Kyphosis, Cachexia, Failure to thrive in infancy, Scoliosis |
ORPHA:702 |
Hypercalcemia, Infantile, 1 |
|
Failure to thrive, Weight loss |
OMIM:143880 |
Arthrogryposis, Distal, Type 5D |
|
Hyperlordosis, Short neck, Elbow flexion contracture, Scoliosis, Camptodactyly |
OMIM:615065 |
Hyperlipoproteinemia, Type Id |
|
Hepatomegaly, Splenomegaly, Eruptive xanthomas, Recurrent pancreatitis, Failure to thrive, Pancre... |
OMIM:615947 |
Ring Chromosome 12 Syndrome |
|
Uterine leiomyoma, Lumbar hyperlordosis, Small for gestational age, Hemangioma |
ORPHA:1439 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... |
OMIM:233710 |
Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Intrahepatic bile duct dilatation, P... |
OMIM:301068 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Hyperlordosis, Hypoplasia of the odontoid process, Flexion contracture, Spinal canal stenosis, Co... |
OMIM:616007 |
Microphthalmia, Lenz Type |
|
Camptodactyly of finger, Hyperlordosis, Kyphosis, Scoliosis, Preauricular skin tag |
ORPHA:568 |
Anauxetic Dysplasia 1 |
|
Hip contracture, Lumbar hyperlordosis, Short neck, Elbow flexion contracture, Platyspondyly, Cerv... |
OMIM:607095 |
Parenteral Nutrition-Associated Cholestasis |
|
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Portal hypertension, Bili... |
ORPHA:567983 |
Microsporidiosis |
|
Cholangitis, Cachexia, Abnormality of the spleen, Skin nodule, Lymphadenitis, Peritonitis, Hepati... |
ORPHA:2552 |
Facioscapulohumeral Dystrophy |
|
Hyperlordosis |
ORPHA:269 |
Otospondylomegaepiphyseal Dysplasia |
|
Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, Coronal cleft vertebrae, Platysp... |
ORPHA:1427 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... |
OMIM:233690 |
Spondyloepiphyseal Dysplasia Congenita |
|
Back pain, Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, Spinal rigidity, Kyph... |
ORPHA:94068 |
Riboflavin Transporter Deficiency |
|
Cachexia |
ORPHA:97229 |
Myotonia Permanens |
|
Hyperlordosis |
ORPHA:99735 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Elevated hepatic transaminase, Hepatomegaly, Inguinal hernia, Elevated circulating aspartate amin... |
OMIM:619525 |
Neurofibromatosis, Type I |
|
Hypopigmented macule, Astrocytoma, Rhabdomyosarcoma, Neurofibroma, Parathyroid adenoma, Optic ner... |
OMIM:162200 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Fetal ascites, Flexion contracture, Facial erythema, Knee flexion contracture, Scaling skin, Hepa... |
OMIM:619503 |
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive |
|
Acral ulceration |
OMIM:256840 |
Renpenning Syndrome |
|
Cachexia |
ORPHA:3242 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Arthrogryposis multiplex congenita, Flexion contracture, Limb joint contracture, Cachexia |
OMIM:618186 |
Spondyloepiphyseal Dysplasia Congenita |
|
Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Hypoplasia of the odontoid process, Kyp... |
OMIM:183900 |
X-Linked Intellectual Disability, Cabezas Type |
|
Inguinal hernia, Camptodactyly of finger, Cachexia, Short neck, Kyphosis, Obesity, Scoliosis |
ORPHA:85293 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Reduced subcutaneous adipose tissue, Sacral dimple, Failure to thrive, Hyperlordosis, Short neck,... |
OMIM:619950 |
Igg4-Related Retroperitoneal Fibrosis |
|
Normocytic anemia, Low back pain, Weight loss |
ORPHA:49041 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Iron deficiency anemia, Weight loss, Exocrine pancreatic insufficiency |
ORPHA:309031 |
Trichorhinophalangeal Syndrome Type 1 |
|
Camptodactyly of finger, Scoliosis, Hyperlordosis |
ORPHA:77258 |
Chromosome 10Q26 Deletion Syndrome |
|
Omphalocele, Lumbar hyperlordosis, Small for gestational age, Short neck |
OMIM:609625 |
19Q13.11 Microdeletion Syndrome |
|
Cachexia, Dry skin, Thin skin, Aplasia cutis congenita, Failure to thrive |
ORPHA:217346 |
Pseudoachondroplasia |
|
Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly, Scoliosis, Bea... |
OMIM:177170 |
Spondylocarpotarsal Synostosis Syndrome |
|
Vertebral fusion, Inguinal hernia, Block vertebrae, Short neck, Hyperlordosis, Hypoplasia of the ... |
OMIM:272460 |
Lhermitte-Duclos Disease |
|
Acrokeratosis, Fibroadenoma of the breast, Ovarian neoplasm, Trichilemmoma, Neoplasm of the thyro... |
ORPHA:65285 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Platyspondyly, Lumbar hyperlordosis, Ovoid vertebral bodies |
OMIM:608728 |
Ring Chromosome 10 Syndrome |
|
Cachexia, Short neck |
ORPHA:1438 |
Perry Syndrome |
|
Weight loss |
ORPHA:178509 |
Silver-Russell Syndrome |
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Failure to thrive in infancy, Shoulder dimple, Cachexia, Obesity, Scoliosis, Cafe-au-lait spot |
ORPHA:813 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Lumbar hyperlordosis, Flexion contracture, Coronal cleft vertebrae, Platyspondyly, Beaking of ver... |
OMIM:215150 |
Glycogen Storage Disease Ib |
|
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Hepatocellular carcinoma, Splen... |
OMIM:232220 |
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
|
Preauricular pit, Joint contracture, Lumbar hyperlordosis |
OMIM:602471 |
Tetrasomy 12P |
|
Cachexia, Short neck |
ORPHA:884 |
Alexander Disease |
|
Hyperlordosis, Short neck, Kyphosis, Scoliosis, Hyperpigmented nevi, Failure to thrive |
ORPHA:58 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Weight loss |
OMIM:266600 |
Apolipoprotein C-Ii Deficiency |
|
Splenomegaly, Eruptive xanthomas, Pancreatitis, Hepatomegaly |
OMIM:207750 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Sacral dimple, Numerous nevi, Small for gestational age, Testicular neoplasm, Hyperlordosis, Kyph... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Sacral dimple, Numerous nevi, Small for gestational age, Testicular neoplasm, Hyperlordosis, Kyph... |
ORPHA:363958 |
Wild Type Attr Amyloidosis |
|
Hepatomegaly, Weight loss |
ORPHA:330001 |
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome |
|
Camptodactyly of toe, Ascites, Lumbar hyperlordosis, Camptodactyly of finger |
ORPHA:2848 |
Carney-Stratakis Syndrome |
|
Gastrointestinal stroma tumor, Paraganglioma, Weight loss |
ORPHA:97286 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangiocarcinoma, Cholangitis, Portal hypertension, Hypersplenism, Splenomegaly, Biliary hyperp... |
ORPHA:731 |
Secondary Short Bowel Syndrome |
|
Failure to thrive, Cholestasis, Weight loss |
ORPHA:95427 |
Congenital Fiber-Type Disproportion Myopathy |
|
Hip contracture, Failure to thrive, Ankle flexion contracture, Hyperlordosis, Kyphoscoliosis, Fle... |
ORPHA:2020 |
Acromesomelic Dysplasia 1 |
|
Lumbar hyperlordosis, Ovoid vertebral bodies, Thoracolumbar interpediculate narrowness, Redundant... |
OMIM:602875 |
Focal Myositis |
|
Weight loss |
ORPHA:48918 |
Dyggve-Melchior-Clausen Disease |
|
Lumbar hyperlordosis, Short neck, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly, Th... |
OMIM:223800 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Hyperlordosis |
ORPHA:3068 |
Hepatoerythropoietic Porphyria |
|
Hemolytic anemia, Scarring, Scarring alopecia of scalp, Splenomegaly, Erythroid hyperplasia, Skin... |
ORPHA:95159 |
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay |
|
Back pain, Lumbar hyperlordosis, Bilateral camptodactyly, Lumbar kyphosis, Umbilical hernia |
OMIM:619234 |
8P23.1 Microdeletion Syndrome |
|
Weight loss, Obesity, Congenital diaphragmatic hernia, Short neck |
ORPHA:251071 |
3Mc Syndrome |
|
Hyperlordosis, Prominent coccyx, Scoliosis, Umbilical hernia, Spina bifida occulta, Caudal appendage |
ORPHA:293843 |
Opitz-Kaveggia Syndrome |
|
Skin tags, Sacral dimple, Multiple joint contractures, Inguinal hernia, Lumbar hyperlordosis, Fac... |
OMIM:305450 |
Hallermann-Streiff Syndrome |
|
Small for gestational age, Hyperlordosis, Dermal atrophy, Scoliosis, Dry skin |
OMIM:234100 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Spina bifida occulta, Scoliosis, Hyperlordosis |
ORPHA:2780 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Lumbar hyperlordosis |
ORPHA:370959 |
Pfeiffer Syndrome |
|
Hyperlordosis, Short neck |
ORPHA:710 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Hyperlordosis, Increased connective tissue, Flexion contracture, Scoliosis, Decreased body weight |
ORPHA:258 |
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Lumbar hyperlordosis, Scoliosis |
OMIM:601152 |
Granulomatous Disease, Chronic, X-Linked |
|
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... |
OMIM:306400 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Acute pancreatitis, Elevated hepatic transamin... |
OMIM:608594 |
Hyperlipoproteinemia, Type I |
|
Splenomegaly, Jaundice, Eruptive xanthomas, Hepatosplenomegaly, Pancreatitis |
OMIM:238600 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Inguinal hernia, Neoplasm, Camptodactyly of finger, Hyperlordosis |
ORPHA:261330 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Cachexia, Lower-limb joint contracture, Upper-limb joint contracture, Scoliosis |
ORPHA:300605 |
Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
Nevus flammeus, Lumbar hyperlordosis, Obesity, Hyperlordosis |
OMIM:616078 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Camptodactyly of finger, Cachexia |
ORPHA:2774 |
Congenital Tufting Enteropathy |
|
Cholestatic liver disease, Failure to thrive, Weight loss |
ORPHA:92050 |
Distal Deletion 10Q |
|
Lumbar hyperlordosis, Failure to thrive, Spina bifida occulta |
ORPHA:96148 |
Inflammatory Bowel Disease 11 |
|
Weight loss |
OMIM:191390 |
Rett Syndrome |
|
Kyphosis, Cachexia, Scoliosis |
OMIM:312750 |
Malignant Atrophic Papulosis |
|
Peritonitis, Dermal atrophy, Papule, Weight loss |
ORPHA:679 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Cachexia |
ORPHA:1389 |
Liver Disease, Severe Congenital |
|
Cardiomegaly, Biliary hyperplasia, Leukopenia, Lymphocytosis, Elevated hepatic iron concentration... |
OMIM:619991 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hepatomegaly, Cardiomegaly, Hyperlordosis, Flexion contracture, Elevated circulating alanine amin... |
ORPHA:365 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Elevated hepatic transaminase, Hepatomegaly, Hyperlordosis, Scoliosis, Hepatic steatosis |
OMIM:615356 |
Osteosarcoma |
|
Weight loss |
ORPHA:668 |
Pure Mitochondrial Myopathy |
|
Lumbar hyperlordosis, Scoliosis |
ORPHA:254854 |
Acromesomelic Dysplasia 4 |
|
Thoracic scoliosis, Lumbar hyperlordosis, Thoracic platyspondyly, Platyspondyly, Umbilical hernia... |
OMIM:619636 |
Sarcoidosis, Susceptibility To, 1 |
|
Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Mediastinal lymphadenopathy, Splenomegal... |
OMIM:181000 |
Branchiooculofacial Syndrome |
|
Preauricular pit, Short neck, Hyperlordosis, Kyphosis, Lower lip pit, Elbow flexion contracture, ... |
OMIM:113620 |
Cap Myopathy |
|
Thoracic scoliosis, Lumbar hyperlordosis |
ORPHA:171881 |
Idiopathic Bronchiectasis |
|
Cachexia |
ORPHA:60033 |
Trichorhinophalangeal Syndrome, Type I |
|
Scoliosis, Hyperlordosis |
OMIM:190350 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Abnormal dental enamel morphology, Hyperlordosis |
ORPHA:3253 |
Martsolf Syndrome 1 |
|
Lumbar hyperlordosis, Inguinal hernia, Thoracic scoliosis |
OMIM:212720 |
Nail-Patella Syndrome |
|
Back pain, Lumbar hyperlordosis, Contracture of the distal interphalangeal joint of the fingers, ... |
ORPHA:2614 |
Pelvis-Shoulder Dysplasia |
|
Lumbar hyperlordosis, Prominent protruding coccyx, Camptodactyly of finger, Abnormal form of the ... |
ORPHA:2839 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Weight loss |
ORPHA:216866 |
Pelvis-Shoulder Dysplasia |
|
Back pain, Lumbar hyperlordosis, Spina bifida occulta |
OMIM:169550 |
Desbuquois Dysplasia 2 |
|
Truncal obesity, Platyspondyly, Lumbar hyperlordosis, Short neck |
OMIM:615777 |
Cap Polyposis |
|
Weight loss |
ORPHA:160148 |
Igg4-Related Kidney Disease |
|
Eosinophilia, Retroperitoneal fibrosis, Lymphadenitis, Abnormal mesentery morphology, Lymphocytom... |
ORPHA:449395 |
Langer Mesomelic Dysplasia |
|
Lumbar hyperlordosis |
OMIM:249700 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Weight loss |
ORPHA:103910 |
Behçet Disease |
|
Splenomegaly, Subcutaneous nodule, Lymphadenopathy, Weight loss, Pancreatitis, Papule |
ORPHA:117 |
Satoyoshi Syndrome |
|
Hyperlordosis |
ORPHA:3130 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Hepatomegaly, Autoimmune thrombocytopenia, Hypersplenism, Splenomegaly, Neoplasm of the liver, De... |
ORPHA:77293 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Cachexia, Kyphosis, Melanocytic nevus, Scoliosis, Multiple cafe-au-lait spots |
ORPHA:1969 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Cachexia |
ORPHA:1933 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Weight loss |
ORPHA:79127 |
Familial Glucocorticoid Deficiency |
|
Weight loss, Failure to thrive, Testicular adrenal rest tumor, Leydig cell neoplasia |
ORPHA:361 |
Saethre-Chotzen Syndrome |
|
Scoliosis, Abnormal form of the vertebral bodies, Hyperlordosis |
ORPHA:794 |
Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Platyspondyly, Lumbar hyperlordosis, Short neck |
OMIM:612813 |
Weill-Marchesani Syndrome 2 |
|
Lumbar hyperlordosis, Elbow flexion contracture, Lack of skin elasticity, Spinal canal stenosis, ... |
OMIM:608328 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Weight loss |
OMIM:188580 |
Cockayne Syndrome |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Elevated hepatic transaminase, Cachexia, Splen... |
ORPHA:191 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Weight loss |
OMIM:613239 |
Yao Syndrome |
|
Weight loss |
OMIM:617321 |
X-Linked Creatine Transporter Deficiency |
|
Redundant skin, Cachexia |
ORPHA:52503 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Spinal rigidity, Cardiomegaly, Right ventricular hypertrophy, Hyperlordosis |
ORPHA:268 |
Helsmoortel-Van Der Aa Syndrome |
|
Hyperlordosis, Obesity, Truncal obesity, Thin skin, Scoliosis, Failure to thrive, Enlarged kidney |
OMIM:615873 |
Ectodermal Dysplasia And Immunodeficiency 2 |
|
Splenomegaly, Failure to thrive, Dry skin, Hepatomegaly |
OMIM:612132 |
Achondroplasia |
|
Lumbar hyperlordosis, Lumbar kyphosis in infancy, Spinal stenosis with reduced interpedicular dis... |
OMIM:100800 |
Infantile Krabbe Disease |
|
Failure to thrive, Hypopigmented skin patches, Cachexia |
ORPHA:206436 |
Perry Syndrome |
|
Weight loss |
OMIM:168605 |
Riddle Syndrome |
|
Generalized lymphadenopathy, Erythema, Scaling skin, Weight loss |
ORPHA:420741 |
Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Lumbar hyperlordosis, Short neck |
ORPHA:171866 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Lumbar hyperlordosis, Short neck |
ORPHA:251028 |
Fryns-Smeets-Thiry Syndrome |
|
Cachexia, Scoliosis |
ORPHA:2058 |
Choreoacanthocytosis |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Acanthocytosis, Abno... |
ORPHA:2388 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Scoliosis, Lumbar hyperlordosis, Progressive flexion contractures, Dermoid cyst |
ORPHA:522077 |
Stiff Person Spectrum Disorder |
|
Lumbar hyperlordosis |
ORPHA:3198 |
Oromandibular Dystonia |
|
Weight loss |
ORPHA:93958 |
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Kyphosis, Large for gestational age, Scoliosis, Hyperlordosis |
OMIM:617011 |
Pancreatoblastoma |
|
Jaundice, Weight loss, Pancreatic calcification, Abnormal lymph node morphology |
ORPHA:677 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Normocytic anemia, Weight loss, Normochromic anemia, Reduced hematocrit, Chorioretinal scar |
ORPHA:91500 |
Glucose-Galactose Malabsorption |
|
Failure to thrive, Weight loss |
ORPHA:35710 |
Shprintzen Omphalocele Syndrome |
|
Omphalocele, Lumbar hyperlordosis, Kyphosis, Scoliosis, Decreased body weight |
OMIM:182210 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Retroperitoneal fibrosis, Weight loss, Thrombocytopenia, Lymphadenopathy |
ORPHA:79078 |
Rheumatoid Arthritis |
|
Weight loss |
OMIM:180300 |
Fatal Familial Insomnia |
|
Weight loss |
OMIM:600072 |
Goodpasture Syndrome |
|
Pallor, Anemia, Weight loss |
OMIM:233450 |
Cystinosis, Nephropathic |
|
Hepatomegaly, Failure to thrive in infancy, Splenomegaly, Weight loss, Exocrine pancreatic insuff... |
OMIM:219800 |
Nocardiosis |
|
Liver abscess, Lymphadenitis, Peritonitis, Subcutaneous nodule, Weight loss, Cellulitis |
ORPHA:31204 |
Sponastrime Dysplasia |
|
Lumbar hyperlordosis, Small for gestational age, Kyphoscoliosis, Hyperconvex vertebral body endpl... |
ORPHA:93357 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Lumbar hyperlordosis, Obesity, Scoliosis |
OMIM:250420 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Lumbar hyperlordosis, Camptodactyly of finger, Kyphoscoliosis, Short neck, Kyphosis, Flexion cont... |
OMIM:143095 |
Nail-Patella Syndrome |
|
Back pain, Lumbar hyperlordosis, Scoliosis |
OMIM:161200 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Failure to thrive, Weight loss, Lower-limb joint contracture, Arthrogryposis multiplex congenita,... |
ORPHA:99885 |
Williams Syndrome |
|
Sacral dimple, Inguinal hernia, Failure to thrive in infancy, Abnormal dental enamel morphology, ... |
ORPHA:904 |
Parkinson Disease 4, Autosomal Dominant |
|
Weight loss |
OMIM:605543 |
Seckel Syndrome |
|
Cachexia, Abnormal dental enamel morphology, Scoliosis |
ORPHA:808 |
Spondylometaphyseal Dysplasia, Algerian Type |
|
Platyspondyly, Lumbar hyperlordosis, Kyphoscoliosis |
OMIM:184253 |
African Trypanosomiasis |
|
Erythematous macule, Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Hepatosplenomegaly, W... |
ORPHA:3385 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Multiple cafe-au-lait spots, Annular pancreas, Lumbar hyperlordosis, Scoliosis |
OMIM:616975 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Slender build, Cachexia, Weight loss |
OMIM:603041 |
Acquired Central Diabetes Insipidus |
|
Weight loss |
ORPHA:95626 |
Weill-Marchesani Syndrome 1 |
|
Lumbar hyperlordosis, Spinal canal stenosis, Scoliosis |
OMIM:277600 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Lumbar hyperlordosis, Kyphoscoliosis, Large for gestational age, Kyphosis, Slender build |
ORPHA:457359 |
Trisomy 18 |
|
Omphalocele, Camptodactyly of finger, Cachexia, Congenital diaphragmatic hernia, Hernia |
ORPHA:3380 |
Marfan Syndrome |
|
Inguinal hernia, Cachexia, Kyphosis, Scoliosis, Slender build, Striae distensae, Spondylolisthesis |
ORPHA:558 |
Oculogastrointestinal Muscular Dystrophy |
|
Cachexia |
ORPHA:1876 |
Turnpenny-Fry Syndrome |
|
Thoracic kyphoscoliosis, Numerous nevi, Lumbar hyperlordosis, Melanocytic nevus, Decreased body w... |
OMIM:618371 |
Iniencephaly |
|
Omphalocele, Congenital diaphragmatic hernia, Hyperlordosis, Absent vertebra, Arthrogryposis mult... |
ORPHA:63259 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Weight loss |
OMIM:607459 |
Gerstmann-Straussler Disease |
|
Weight loss |
OMIM:137440 |
Postinfectious Vasculitis |
|
Palpable purpura, Subcutaneous nodule, Viral hepatitis, Weight loss |
ORPHA:48435 |
Hutchinson-Gilford Progeria Syndrome |
|
Hypermelanotic macule, Absence of subcutaneous fat, Lack of skin elasticity, Weight loss, Dermal ... |
ORPHA:740 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Small for gestational age, Weight loss |
ORPHA:424 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Contracture of the proximal interphalangeal joint of the 5th finger, Lumbar hyperlordosis, Kyphosis |
ORPHA:2232 |
Acrocapitofemoral Dysplasia |
|
Lumbar hyperlordosis, Ovoid vertebral bodies, Scoliosis |
OMIM:607778 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Weight loss |
ORPHA:747 |
Hereditary Late-Onset Parkinson Disease |
|
Weight loss |
ORPHA:411602 |
Stickler Syndrome |
|
Abnormal dental enamel morphology, Cachexia, Kyphosis, Spinal canal stenosis, Abnormal form of th... |
ORPHA:828 |
Tropical Endomyocardial Fibrosis |
|
Hepatomegaly, Eosinophilia, Cachexia, Cardiomegaly, Splenomegaly, Ascites |
ORPHA:75565 |
Reactive Arthritis |
|
Weight loss, Enthesitis |
ORPHA:29207 |
Tsh-Secreting Pituitary Adenoma |
|
Pallor, Weight loss |
ORPHA:91347 |
Thyrotoxic Periodic Paralysis |
|
Obesity, Weight loss |
ORPHA:79102 |
Pulmonary Alveolar Microlithiasis |
|
Hepatomegaly, Weight loss |
ORPHA:60025 |
Familial Gestational Hyperthyroidism |
|
Weight loss |
ORPHA:99819 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Absent gallbladder, Lumbar hyperlordosis, Failure to thrive in infancy, Kyphoscoliosis, Hemiverte... |
ORPHA:500150 |
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Cachexia |
ORPHA:3217 |
Oculopharyngodistal Myopathy 1 |
|
Weight loss |
OMIM:164310 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Failure to thrive, Testicular adrenal rest tumor, Weight loss |
ORPHA:90794 |
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Localized hypoplasia of dental enamel, Hyperlordosis |
ORPHA:73223 |
Norrie Disease |
|
Cachexia, Scoliosis, Neoplasm of the eye, Failure to thrive, Vascular neoplasm |
ORPHA:649 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Anterior wedging of T12, Plat... |
OMIM:300106 |
Primary Fanconi Renotubular Syndrome |
|
Weight loss |
ORPHA:3337 |
Microphthalmia, Syndromic 1 |
|
Lumbar hyperlordosis, Kyphoscoliosis, Scoliosis, Camptodactyly, Joint contracture of the hand |
OMIM:309800 |