Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Myofibromatosis, Infantile, 1 |
|
Fibroma, Myofibromatosis |
OMIM:228550 |
Tumor Predisposition Syndrome 4 |
|
Glioma, Breast carcinoma, Stomach cancer, Meningioma, Sarcoma |
OMIM:609265 |
Li-Fraumeni Syndrome |
|
Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ... |
OMIM:151623 |
Reticulum Cell Sarcoma |
|
Neoplasm, Sarcoma |
OMIM:267730 |
Tumor Predisposition Syndrome 1 |
|
Uveal melanoma, Renal cell carcinoma, Cutaneous melanoma, Malignant mesothelioma, Lung adenocarci... |
OMIM:614327 |
Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Lymphoma, Polyclonal elevation of IgM... |
OMIM:153600 |
Glioma susceptibility 9 |
|
Renal neoplasm, Astrocytoma, Glioma, Neoplasm of the lung, Leukemia |
OMIM:616568 |
Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Refractory anemia with ringed siderob... |
OMIM:133180 |
Acid-Labile Subunit Deficiency |
|
Insulin insensitivity, Mild postnatal growth retardation, Delayed puberty |
OMIM:615961 |
Undifferentiated Pleomorphic Sarcoma |
|
Abnormal peritoneum morphology, Soft tissue sarcoma |
ORPHA:2023 |
Ewing Sarcoma |
|
Ewing sarcoma |
OMIM:612219 |
Multiple Fibroadenomas Of The Breast |
|
Fibroadenoma of the breast |
OMIM:615554 |
Colorectal Cancer, Susceptibility To, 12 |
|
Colorectal polyposis, Carcinoma |
OMIM:615083 |
Sarcoma, Synovial |
|
Synovial sarcoma |
OMIM:300813 |
Alveolar Soft Part Sarcoma |
|
Alveolar soft part sarcoma |
OMIM:606243 |
Desmoid Disease, Hereditary |
|
Desmoid tumors, Colorectal polyposis, Colon cancer, Breast carcinoma |
OMIM:135290 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Hepatomegaly, Lymphoproliferative disorder, Recurrent respiratory... |
OMIM:614470 |
Myeloproliferative Syndrome, Transient |
|
Leukocytosis, Transient myeloproliferative syndrome |
OMIM:159595 |
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone |
|
Intrauterine growth retardation, Severe short stature, Hypoglycemia |
OMIM:223500 |
Melanoma-Pancreatic Cancer Syndrome |
|
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Melano... |
OMIM:606719 |
Mutyh-Related Attenuated Familial Adenomatous Polyposis |
|
Rectal polyposis, Adenomatous colonic polyposis, Desmoid tumors, Large intestinal polyposis, Colo... |
ORPHA:247798 |
Lung Cancer |
|
Alveolar cell carcinoma, Lung adenocarcinoma, Non-small cell lung carcinoma |
OMIM:211980 |
Fetal Cytomegalovirus Syndrome |
|
Splenomegaly, Anemia, Hepatomegaly |
ORPHA:294 |
Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Sarcoma |
ORPHA:66661 |
Lymphoblastic Leukemia, Acute, With Lymphomatous Features |
|
Acute lymphoblastic leukemia, Lymphoma, T-cell acute lymphoblastic leukemias |
OMIM:247640 |
Short Stature Due To Partial Ghr Deficiency |
|
Growth delay, Short stature, Hypoglycemia, Delayed puberty |
ORPHA:314802 |
Myeloproliferative Disorder, Chronic, With Eosinophilia |
|
Malignant eosinophil proliferation, Eosinophilia, Myeloproliferative disorder |
OMIM:131440 |
Attenuated Familial Adenomatous Polyposis |
|
Duodenal polyposis, Astrocytoma, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic p... |
ORPHA:220460 |
Mismatch Repair Cancer Syndrome 1 |
|
Glioblastoma multiforme, Astrocytoma, Non-Hodgkin lymphoma, Rhabdomyosarcoma, Oligodendroglioma, ... |
OMIM:276300 |
Hypereosinophilic Syndrome, Idiopathic |
|
Splenomegaly, Hepatomegaly, Eosinophilia, Myeloproliferative disorder |
OMIM:607685 |
Mismatch Repair Cancer Syndrome 2 |
|
Glioblastoma multiforme, T-cell acute lymphoblastic leukemias, Colon cancer |
OMIM:619096 |
Pituitary Hormone Deficiency, Combined, 4 |
|
Severe postnatal growth retardation, Pituitary dwarfism, Short stature, Hypoglycemia |
OMIM:262700 |
Nut Midline Carcinoma |
|
Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Panc... |
ORPHA:443167 |
Hereditary Mixed Polyposis Syndrome |
|
Refractory anemia, Endometrial carcinoma, Juvenile colonic polyposis, Rectal polyposis, Adenomato... |
ORPHA:157794 |
Enchondromatosis, Multiple, Ollier Type |
|
Chondrosarcoma, Hemangioma, Multiple enchondromatosis |
OMIM:166000 |
Juvenile Myelomonocytic Leukemia |
|
Juvenile myelomonocytic leukemia |
OMIM:607785 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Impaired gluconeogenesis, Hepatic failure, Hypoglycemia, Hepatic steatosis |
OMIM:261650 |
Li-Fraumeni Syndrome |
|
Astrocytoma, Neoplasm of the central nervous system, Neoplasm, Thyroid carcinoma, Prostate cancer... |
ORPHA:524 |
Isolated Growth Hormone Deficiency, Type Ia |
|
Growth delay, Severe short stature, Hypoglycemia, Prolonged neonatal jaundice |
OMIM:262400 |
Glycogen Storage Disease Vi |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Postnatal growth retardation, Increase... |
OMIM:232700 |
Myeloproliferative Disease, Autosomal Recessive |
|
Myeloproliferative disorder |
OMIM:254700 |
Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer |
|
Acute myeloid leukemia, Adenomatous colonic polyposis, Colon cancer |
OMIM:246470 |
Polymerase Proofreading-Related Adenomatous Polyposis |
|
Endometrial carcinoma, Brain neoplasm, Adenomatous colonic polyposis, Breast carcinoma, Neoplasm ... |
ORPHA:447877 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Squamous cell carcinoma, Prostate cancer, Neutropenia, B-cell lymphoma, Myelodysplasia, T-cell ly... |
ORPHA:158057 |
Chondrosarcoma |
|
Chondrosarcoma |
OMIM:215300 |
Chondrosarcoma, Extraskeletal Myxoid |
|
Chondrosarcoma |
OMIM:612237 |
Dermatofibrosarcoma Protuberans |
|
Fibrosarcoma, Neoplasm of the skin |
ORPHA:31112 |
Short Stature Due To Ghsr Deficiency |
|
Growth delay, Short stature, Hypoglycemia, Delayed puberty |
ORPHA:314811 |
Fanconi Anemia, Complementation Group G |
|
Myelodysplasia, Thrombocytopenia, Neutropenia, Leukemia, Anemia |
OMIM:614082 |
Punctate Palmoplantar Keratoderma Type 1 |
|
Pancreatic adenocarcinoma, Brain neoplasm, Neoplasm of the skeletal system, Esophageal neoplasm, ... |
ORPHA:79501 |
Hemoglobin H Disease |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
Generalized Eruptive Histiocytosis |
|
Histiocytosis, Leukemia, Hypereosinophilia, Lymphadenopathy |
ORPHA:157991 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Myelodysplasia, Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thr... |
ORPHA:231401 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Hypoglycemia, Elevated... |
OMIM:615158 |
N Syndrome |
|
Leukemia, Neoplasm |
OMIM:310465 |
Multiple Enchondromatosis, Maffucci Type |
|
Chondrosarcoma, Hemangioma, Multiple enchondromatosis |
OMIM:614569 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Decreased 3-hydroxyacyl-CoA dehydrogenase level, Hypoglycemia |
OMIM:609016 |
Ataxia-Pancytopenia Syndrome |
|
Recurrent respiratory infections, Pancytopenia, Abnormal macrophage morphology, Abnormality of ne... |
ORPHA:2585 |
Paraneoplastic Pemphigus |
|
B-cell lymphoma, Thymoma, Sarcoma |
ORPHA:63455 |
Familial Adenomatous Polyposis 3 |
|
Endometrial carcinoma, Pancreatic adenocarcinoma, Adenomatous colonic polyposis, Breast carcinoma... |
OMIM:616415 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hyperinsulinemia, Hypoglycemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:610021 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Thrombocytopenia, Increased mean corpuscular volume, Myelodysplasia |
OMIM:252270 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 2 |
|
Pancytopenia, Aplastic anemia, Bone marrow hypocellularity, Cirrhosis, Leukemia, Pulmonary fibros... |
OMIM:614743 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Acquired Ichthyosis |
|
Neoplasm, Lymphoma, Multiple myeloma, Sarcoma |
ORPHA:454 |
Glucocorticoid Deficiency 3 |
|
Recurrent hypoglycemia |
OMIM:609197 |
Ollier Disease |
|
Chondrosarcoma, Visceral angiomatosis, Multiple enchondromatosis, Neoplasm, Lymphangioma, Hemangi... |
ORPHA:296 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Acute myeloid leukemia, Refractory anemia, Myelodysplasia, Lymphoma, Leukopenia, Monocytosis, Bon... |
OMIM:616871 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery... |
OMIM:603902 |
Cutaneous Neuroendocrine Carcinoma |
|
Brain neoplasm, Lymphoid leukemia, Neoplasm of the outer ear, Chronic noninfectious lymphadenopat... |
ORPHA:79140 |
Unclassified Myelodysplastic Syndrome |
|
Acute myeloid leukemia, Myelodysplasia, Leukocytosis, Bone marrow hypocellularity, Multiple linea... |
ORPHA:98827 |
Muir-Torre Syndrome |
|
Colonic diverticula, Malignant genitourinary tract tumor, Laryngeal carcinoma, Breast carcinoma, ... |
OMIM:158320 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Eosinophilia, Acute monocytic leukemia, Monocytosis, Increased circul... |
OMIM:202700 |
Immunodeficiency, Common Variable, 13 |
|
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia, Decreased circulating antibody level |
OMIM:616873 |
Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... |
ORPHA:263458 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis, Intrauterine grow... |
OMIM:613370 |
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
Primary Erythromelalgia |
|
Recurrent respiratory infections, Leukemia |
ORPHA:90026 |
Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia, Myelodysplasia |
OMIM:162830 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Splenomegaly, Anemia, Hepatomegaly |
ORPHA:46532 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Pancytopenia, Splenomegaly, B Acute Lymphoblastic Leukemia, Decreased proportion of CD8-positive,... |
OMIM:619824 |
Lymphedema, Primary, With Myelodysplasia |
|
Acute myeloid leukemia, Pancytopenia, Myelodysplasia, Leukemia, Decreased CD4:CD8 ratio, Verrucae |
OMIM:614038 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
Glioma Susceptibility 3 |
|
Acute myeloid leukemia, Glioblastoma multiforme, Astrocytoma, B Acute Lymphoblastic Leukemia, Med... |
OMIM:613029 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Myelodysplasia, Anemia, Increased mean corpuscular volume, ... |
OMIM:619041 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Short stature, Hypoglycemia |
ORPHA:366 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
Nthl1-Related Attenuated Familial Adenomatous Polyposis |
|
Endometrial carcinoma, Pancreatic adenocarcinoma, Seborrheic keratosis, Adenomatous colonic polyp... |
ORPHA:454840 |
Leukemia, Acute Lymphoblastic |
|
Acute lymphoblastic leukemia |
OMIM:613065 |
Leukemia, Acute Monocytic |
|
Acute monocytic leukemia |
OMIM:151380 |
Leukemia, Acute Myeloid |
|
Acute myeloid leukemia |
OMIM:601626 |
Leukemia, Acute, X-Linked |
|
Acute leukemia |
OMIM:308960 |
Bazex Syndrome |
|
Anemia, Neoplasm, Lung adenocarcinoma, Liposarcoma |
ORPHA:166113 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Acute lymphoblastic leukemia, Myelodysplasia, Neutropenia |
OMIM:610738 |
Milroy Disease |
|
Angiosarcoma, Neoplasm of the skin |
ORPHA:79452 |
Desmoplastic Small Round Cell Tumor |
|
Neoplasm of the pancreas, Hepatomegaly, Abnormal peritoneum morphology, Testicular neoplasm, Medi... |
ORPHA:83469 |
Apc-Related Attenuated Familial Adenomatous Polyposis |
|
Duodenal polyposis, Astrocytoma, Multiple gastric polyps, Papillary thyroid carcinoma, Fibrosarco... |
ORPHA:247806 |
Progressive Osseous Heteroplasia |
|
Sarcoma |
ORPHA:2762 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia |
OMIM:206400 |
Maffucci Syndrome |
|
Neoplasm of the adrenal cortex, Chondrosarcoma, Astrocytoma, Hemangiomatosis, Neoplasm of the par... |
ORPHA:163634 |
Fructose And Galactose Intolerance |
|
Hypoglycemia |
OMIM:229500 |
Immunodeficiency 16 |
|
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia |
OMIM:615593 |
Meige Disease |
|
Angiosarcoma, Lymph node hypoplasia, Pleural effusion, Absence of lymph node germinal center |
ORPHA:90186 |
Immunodeficiency 36 With Lymphoproliferation |
|
Decreased circulating IgG level, B-cell lymphoma, Splenomegaly, Recurrent upper respiratory tract... |
OMIM:616005 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Splenomegaly, Hepatomegaly |
ORPHA:2274 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Myelodysplasia, Abnormal erythrocyte mor... |
ORPHA:86841 |
Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability |
|
Cataract, Hyperlordosis, Spinal rigidity, Kyphosis, Increased adipose tissue, Proximal amyotrophy... |
OMIM:617404 |
Congenital Glucokinase-Related Hyperinsulinism |
|
Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp... |
ORPHA:79299 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Atrioventricular block, Decreased cervical spine flexion due to contractures of poster... |
ORPHA:98855 |
Familial Adenomatous Polyposis 1 |
|
Duodenal polyposis, Astrocytoma, Adrenocortical carcinoma, Fibroadenoma of the breast, Medullobla... |
OMIM:175100 |
Acquired Idiopathic Sideroblastic Anemia |
|
Acute myeloid leukemia, Normocytic anemia, Hepatomegaly, Pancytopenia, Myelodysplasia, Anemia of ... |
ORPHA:75564 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8 |
|
Distal lower limb amyotrophy, Hip contracture, Nonprogressive muscular atrophy, Spinal muscular a... |
OMIM:600175 |
Reticuloendotheliosis, X-Linked |
|
Jaundice, Lymphadenopathy, Anemia, Hepatosplenomegaly |
OMIM:312500 |
Fanconi Anemia, Complementation Group D1 |
|
Acute myeloid leukemia, T-cell acute lymphoblastic leukemias, Bone marrow hypocellularity, Anal a... |
OMIM:605724 |
Mantle Cell Lymphoma |
|
Abnormality of the gastrointestinal tract, Splenomegaly, B-cell lymphoma, Lymphadenopathy |
ORPHA:52416 |
Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1 |
|
Pancytopenia, Aplastic anemia, Myelodysplasia, Mediastinal lymphadenopathy, Usual interstitial pn... |
OMIM:614742 |
Infantile Myofibromatosis |
|
Benign neoplasm of the central nervous system, Neoplasm of the pancreas, Intestinal obstruction, ... |
ORPHA:2591 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:601820 |
Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
Rhabdoid Tumor |
|
Renal neoplasm, Thrombocytopenia, Lymphadenopathy, Neoplasm of the central nervous system, Neopla... |
ORPHA:69077 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion |
OMIM:183350 |
Adenocarcinoma Of The Anal Canal |
|
Anal stenosis, Anal canal adenocarcinoma, Neoplasm of the skeletal system, Rectal prolapse, Lymph... |
ORPHA:424016 |
Hyperbilirubinemia, Shunt, Primary |
|
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... |
OMIM:237800 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Short neck, Atrioventricular block, Decreased cervical spine flexion due to contractur... |
ORPHA:98863 |
Liposarcoma |
|
Sarcoma |
ORPHA:69078 |
Spermatogenic Failure 65 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619712 |
Partial Chromosome Y Deletion |
|
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Acute myeloid leukemia, Acute monocytic leukemia, Myelodysplasia, Lymphoma, Neuroblastoma, Impair... |
OMIM:601399 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased proportion of CD4-positive T cells, Recurrent respiratory infections, Lymphoproliferati... |
OMIM:300853 |
Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Atrioventricular block, Decreased cervical spine flexion due to contractures of poster... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Atrioventricular block, Decreased cervical spine flexion due to contractures of poster... |
ORPHA:98853 |
Fanconi Anemia, Complementation Group T |
|
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia |
OMIM:616435 |
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition |
|
Pilomatrixoma, Embryonal rhabdomyosarcoma, Multiple enchondromatosis, Adenocarcinoma of the colon... |
OMIM:620189 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Growth delay, Abnormal circulating enzyme concentration or activity, Short stature, Fasting hypog... |
ORPHA:171706 |
Insulin Autoimmune Syndrome |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... |
ORPHA:411593 |
Asbestos Intoxication |
|
Mediastinal lymphadenopathy, Atelectasis, Pleural thickening, Abnormal pulmonary interstitial mor... |
ORPHA:2302 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Hyperlordosis, Spinal rigidity, Kyphosis, Short neck, Flexion contracture, Scoliosis, Increased v... |
OMIM:300718 |
Fanconi Renotubular Syndrome 5 |
|
Emphysema, Lung adenocarcinoma, Pulmonary fibrosis |
OMIM:618913 |
Wt Limb-Blood Syndrome |
|
Thrombocytopenia, Leukemia, Hypoplastic anemia, Pancytopenia |
OMIM:194350 |
Spermatogenic Failure 54 |
|
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... |
OMIM:619379 |
Spermatogenic Failure 56 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619515 |
Spermatogenic Failure 30 |
|
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest |
OMIM:618110 |
Immunodeficiency 21 |
|
Aplastic anemia, Myelodysplasia, B lymphocytopenia, Cervical intraepithelial neoplasia, Neutropen... |
OMIM:614172 |
Spermatogenic Failure, X-Linked, 3 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... |
OMIM:301059 |
Gastrointestinal Stromal Tumor |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Neoplasm of the stomach, Gastrointestinal st... |
ORPHA:44890 |
Tumor Predisposition Syndrome 2 |
|
Acute myeloid leukemia, Schwannoma, Adenomatous colonic polyposis, Uveal melanoma, Juvenile type ... |
OMIM:619975 |
Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death |
OMIM:226735 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Recurrent respiratory infections, Abnormal neutrophil count, Splenomegaly, Leukocyt... |
ORPHA:3226 |
Myopathy, Scapulohumeroperoneal |
|
Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Facial palsy, Hyperlordosis, Incr... |
OMIM:616852 |
Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
Pancytopenia, T-cell acute lymphoblastic leukemias, Increased mean corpuscular volume |
OMIM:620044 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Neonatal hypoglycemia, Hypoglycemia, Hypoinsulinemia, Fasting hypoglycemia |
OMIM:240900 |
Spermatogenic Failure 48 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia |
OMIM:619108 |
Dohle Bodies And Leukemia |
|
Acute myeloid leukemia, Leukocyte inclusion bodies, Anemia |
OMIM:223350 |
Lethal Congenital Contracture Syndrome 3 |
|
Neonatal death |
OMIM:611369 |
Glycogen Storage Disease Ixc |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Postnatal growth retardation, Growth d... |
OMIM:613027 |
Immunodeficiency 109 With Lymphoproliferation |
|
Pancytopenia, Generalized lymphadenopathy, Decreased lymphocyte proliferation in response to anti... |
OMIM:620282 |
Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
Large Congenital Melanocytic Nevus |
|
Rhabdomyosarcoma, Neoplasm, Neoplasm of the skin, Cutaneous melanoma, Sarcoma |
ORPHA:626 |
Myelofibrosis |
|
Splenomegaly, Myeloproliferative disorder |
OMIM:254450 |
Epidermodysplasia Verruciformis, Susceptibility To, 3 |
|
Basal cell carcinoma, Verrucae, Squamous cell carcinoma |
OMIM:618267 |
Spinal Muscular Atrophy, Infantile, James Type |
|
Hip contracture, Lumbar hyperlordosis, Distal amyotrophy, Scoliosis, Type 1 muscle fiber predomin... |
OMIM:619042 |
Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
Spermatogenic Failure 80 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... |
OMIM:620222 |
Spermatogenic Failure 40 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... |
OMIM:618664 |
Spermatogenic Failure 76 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... |
OMIM:620084 |
Essential Thrombocythemia |
|
Splenomegaly, Abnormal platelet morphology, Myelodysplasia, Acute leukemia |
ORPHA:3318 |
Nemaline Myopathy 5C, Autosomal Dominant |
|
Skeletal muscle atrophy, Scapular winging, Slender build, Hyperlordosis, Quadriceps muscle weakne... |
OMIM:620389 |
Thymoma |
|
Aplastic anemia, Neoplasm of head and neck, Pure red cell aplasia, Abnormal lymphocyte proliferat... |
ORPHA:99867 |
Spermatogenic Failure 39 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... |
OMIM:618643 |
Diarrhea 13 |
|
Elevated hepatic transaminase, Recurrent hypoglycemia, Hepatic steatosis |
OMIM:620357 |
Spermatogenic Failure 25 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
Gardner Syndrome |
|
Duodenal polyposis, Brain neoplasm, Astrocytoma, Multiple gastric polyps, Papillary thyroid carci... |
ORPHA:79665 |
Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Pancytopenia, Portal hypertension, Hematological neoplasm, Hypersple... |
ORPHA:98850 |
Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Abnormal eosinophil morphology, Hepatic fibrosis, Neoplasm of the gallblad... |
ORPHA:171 |
Pyknoachondrogenesis |
|
Stillbirth |
OMIM:265880 |
Spermatogenic Failure 58 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... |
OMIM:619585 |
Chilblain Lupus |
|
Increased circulating antibody level, Chronic myelomonocytic leukemia |
ORPHA:90280 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 |
|
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Increased connective tissu... |
OMIM:601954 |
Yellow Nail Syndrome |
|
Renal neoplasm, Recurrent respiratory infections, Biliary tract neoplasm, Bronchiectasis, Neoplas... |
ORPHA:662 |
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16 |
|
Calf muscle pseudohypertrophy, Lumbar hyperlordosis, Reduced muscle fiber alpha dystroglycan, Ank... |
ORPHA:280333 |
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset |
|
Hip contracture, Elbow contracture, Ankle contracture, Kyphoscoliosis, Spinal rigidity, Limb-gird... |
OMIM:620386 |
Desmoid Tumor |
|
Gastrointestinal hemorrhage, Intestinal polyposis, Intestinal obstruction, Malabsorption, Desmoid... |
ORPHA:873 |
Familial Adenomatous Polyposis |
|
Duodenal polyposis, Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Angiofibromas, Multiple ga... |
ORPHA:733 |
Amed Syndrome, Digenic |
|
Acute myeloid leukemia, Myelodysplasia, Anemia, Leukopenia, Bone marrow hypocellularity, Thromboc... |
OMIM:619151 |
Neuroendocrine Neoplasm Of Appendix |
|
Elevated hepatic transaminase, Hepatomegaly, Functional intestinal obstruction, Chronic noninfect... |
ORPHA:100079 |
Myosclerosis, Autosomal Recessive |
|
Skeletal muscle atrophy, Lumbar hyperlordosis, Thoracolumbar scoliosis, Facial palsy, Spinal rigi... |
OMIM:255600 |
Spermatogenic Failure 47 |
|
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella |
OMIM:619102 |
3-Methylglutaconic Aciduria Type 1 |
|
Hepatomegaly, Hypoglycemia |
ORPHA:67046 |
Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Thrombocytopenia, Acute myelomonocytic leukemia, Neutropenia, Hypoplastic anemia, A... |
OMIM:159550 |
Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... |
OMIM:615285 |
Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
Spermatogenic Failure 70 |
|
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia |
OMIM:619828 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Abnormal small intestine morphology, Dysgammaglobulinemia, Malabsorption, Splenomeg... |
ORPHA:100025 |
Spermatogenic Failure 50 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size |
OMIM:619145 |
Spermatogenic Failure 57 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... |
OMIM:619528 |
Spermatogenic Failure 51 |
|
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... |
OMIM:619177 |
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
|
Skeletal muscle atrophy, Ankle flexion contracture, Hyperlordosis, Centrally nucleated skeletal m... |
OMIM:617760 |
Disseminated Superficial Actinic Porokeratosis |
|
Squamous cell carcinoma |
ORPHA:79152 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Recurrent sinopulmonary infections, Aplastic anemia, Eosinophilia, Myelod... |
ORPHA:486 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Nephroblastoma, Leukemia, Meningioma |
OMIM:602501 |
Acute Panmyelosis With Myelofibrosis |
|
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy... |
ORPHA:86843 |
Spermatogenic Failure 22 |
|
Male infertility, Non-obstructive azoospermia, Cryptozoospermia |
OMIM:617706 |
Male Infertility Due To Acephalic Spermatozoa |
|
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... |
ORPHA:529970 |
Pelvic Hypoplasia With Lower-Limb Arthrogryposis |
|
Hip contracture, Scapular winging, Lumbar hyperlordosis, Paraspinal muscle hypertrophy, Knee flex... |
OMIM:602484 |
Neonatal Hemochromatosis |
|
Congenital hepatic fibrosis, Hypoglycemia, Prolonged neonatal jaundice |
ORPHA:446 |
Bethlem Myopathy 2 |
|
Scapular winging, Kyphosis, Flexion contracture, Myopathy, Atrophic scars, Scoliosis, Increased v... |
OMIM:616471 |
Storage Pool Platelet Disease |
|
Decreased mean platelet volume, Myelodysplasia, Acute leukemia |
OMIM:185050 |
Hemochromatosis, Neonatal |
|
Hypoglycemia, Cholestasis, Hepatocellular necrosis, Hepatic fibrosis, Cirrhosis, Prolonged neonat... |
OMIM:231100 |
Spermatogenic Failure 1 |
|
Male infertility, Cryptozoospermia, Oligozoospermia |
OMIM:258150 |
Colorectal Cancer |
|
Hereditary nonpolyposis colorectal carcinoma, Neoplasm of the stomach, Renal cell carcinoma, Uter... |
OMIM:114500 |
Ovarian Fibrothecoma |
|
Diffuse leiomyomatosis, Ovarian fibroma, Peritonitis, Pleural effusion, Fibrosarcoma, Ascites |
ORPHA:314478 |
Immunodeficiency, Common Variable, 2 |
|
Hepatomegaly, Impaired T cell function, Follicular hyperplasia, Splenomegaly, Lymphoma, Recurrent... |
OMIM:240500 |
Bicd2-Related Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy |
|
Distal lower limb amyotrophy, Congenital foot contraction deformities, Hand muscle weakness, Hype... |
ORPHA:363454 |
Gne Myopathy |
|
Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc... |
ORPHA:602 |
Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Back pain, Skeletal muscle atrophy, Scapular winging, Short neck, Spinal rigidity, Achilles tendo... |
OMIM:300696 |
Chromosome 14Q32 Duplication Syndrome, 700-Kb |
|
Acute myeloid leukemia, Chronic myelomonocytic leukemia |
OMIM:616604 |
Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia |
OMIM:619689 |
Dna2-Related Mitochondrial Dna Deletion Syndrome |
|
Multiple joint contractures, Decreased mitochondrial number, Hyperlordosis, Limb-girdle muscle we... |
ORPHA:352470 |
Spermatogenic Failure 79 |
|
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia |
OMIM:620196 |
Spermatogenic Failure 59 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619646 |
Spermatogenic Failure 74 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619937 |
Spermatogenic Failure 73 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619878 |
Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Reticulocytosis, Intermittent jaundice |
OMIM:179700 |
Stiff Skin Syndrome |
|
Cataract, Lipodystrophy, Short stature, Elbow flexion contracture, Knee flexion contracture, Camp... |
OMIM:184900 |
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1 |
|
Scapular winging, Pelvic girdle amyotrophy, Lower limb muscle weakness, Ankle flexion contracture... |
ORPHA:267 |
Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
Spermatogenic Failure 10 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:614822 |
Spermatogenic Failure 11 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:615081 |
Spermatogenic Failure 41 |
|
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella |
OMIM:618670 |
Pyoderma Gangrenosum |
|
Myeloid leukemia, Increased circulating antibody level, Myelodysplasia, Inflammation of the large... |
ORPHA:48104 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
Fatigue, Skeletal muscle atrophy, Increased connective tissue, Muscular dystrophy, Increased vari... |
OMIM:253601 |
Spermatogenic Failure 32 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:618115 |
Spermatogenic Failure 71 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:619831 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Myeloid leukemia, Hepatomegaly, Neutrophilia, Myelodysplasia, Leukocytosis, Ly... |
ORPHA:98849 |
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Microcytic anemia, Recurrent pneumonia, Hepatosplenomegaly, Lymphadenopathy, Decreased circulatin... |
OMIM:619750 |
Thrombocytopenia 5 |
|
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... |
OMIM:616216 |
Immunodeficiency 84 |
|
Perianal abscess, Splenomegaly, B lymphocytopenia, B-cell lymphoma |
OMIM:619437 |
Lipodystrophy, Familial Partial, Type 1 |
|
Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Increased subcutaneous truncal adipo... |
OMIM:608600 |
Lipodystrophy, Familial Partial, Type 6 |
|
Skeletal muscle atrophy, Lumbar hyperlordosis, Lipodystrophy, Hypertension, Myopathy, Muscular dy... |
OMIM:615980 |
Rapidly Involuting Congenital Hemangioma |
|
Telangiectasia of the skin, Lipoatrophy, Perineal hemangioma, Congestive heart failure, Midfronta... |
ORPHA:141184 |
Leukemia, Chronic Lymphocytic |
|
Chronic lymphatic leukemia |
OMIM:151400 |
Leukemia, Chronic Lymphocytic, Susceptibility To, 2 |
|
Chronic lymphatic leukemia |
OMIM:109543 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Skeletal muscle atrophy, Cachexia, Spinal rigidity, Hyperlordosis, Flexion contracture, Myopathy |
ORPHA:157973 |
Spermatogenic Failure 7 |
|
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia |
OMIM:612997 |
Nemaline Myopathy 2 |
|
Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Flexion contracture, Congenital co... |
OMIM:256030 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... |
ORPHA:444463 |
Oocyte/Zygote/Embryo Maturation Arrest 9 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:619011 |
Serrated Polyposis Syndrome |
|
Pancreatic adenocarcinoma, Biliary tract neoplasm, Gastric diverticulum, Schwannoma, Adenomatous ... |
ORPHA:157798 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Short stature, Hypoglycemia, Hepatocellular carcinom... |
ORPHA:369 |
Mcdonough Syndrome |
|
Short stature, Cachexia, Cryptorchidism, Synophrys, Kyphosis, Aplasia/Hypoplasia of the abdominal... |
ORPHA:2471 |
Glycogen Storage Disease Ixb |
|
Hepatomegaly, Short stature, Hypoglycemia, Growth delay, Increased hepatic glycogen content |
OMIM:261750 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis |
OMIM:224100 |
Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... |
OMIM:612690 |
Immunodeficiency 76 |
|
B-cell lymphoma, Splenomegaly, Recurrent pneumonia, Lymphadenopathy, T lymphocytopenia, Colitis, ... |
OMIM:619164 |
Myopathy, Distal, With Rimmed Vacuoles |
|
Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa... |
OMIM:617158 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Scapular winging, Ankle flexion contracture, Limb-girdle muscle weakness, Flexion contracture, Ca... |
OMIM:608099 |
Trimethylaminuria |
|
Splenomegaly, Anemia, Neutropenia |
OMIM:602079 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i... |
OMIM:619220 |
Myasthenic Syndrome, Congenital, 14 |
|
Scapular winging, Hyperlordosis, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle w... |
OMIM:616228 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4 |
|
Spinal muscular atrophy, Hyperlordosis, Scapuloperoneal amyotrophy, Distal amyotrophy, Scoliosis,... |
OMIM:611067 |
Basal Cell Nevus Syndrome 2 |
|
Angiofibromas, Neurofibroma, Medulloblastoma, Basal cell carcinoma, Meningioma |
OMIM:620343 |
Exostoses, Multiple, Type Ii |
|
Chondrosarcoma, Multiple exostoses, Pelvic bone exostoses, Rib exostoses, Scapular exostoses |
OMIM:133701 |
Exostoses, Multiple, Type I |
|
Chondrosarcoma, Multiple exostoses, Pelvic bone exostoses, Rib exostoses, Scapular exostoses |
OMIM:133700 |
Moynahan Syndrome |
|
Alopecia, Short stature, Cachexia, Hypogonadism, Sparse hair |
ORPHA:2574 |
Werner Syndrome |
|
Skeletal muscle atrophy, Myocardial infarction, Squamous cell carcinoma, Neoplasm, Thyroid carcin... |
ORPHA:902 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 9 |
|
Postnatal growth retardation, Hypoglycemia |
OMIM:616111 |
Propionic Acidemia |
|
Propionyl-CoA carboxylase deficiency, Hepatomegaly, Hypoglycemia |
ORPHA:35 |
Rigid Spine Syndrome |
|
Hip contracture, Skeletal muscle atrophy, Hyperlordosis, Spinal rigidity, Elbow flexion contractu... |
ORPHA:97244 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Hepatomegaly, B-cell lymphoma, Splenomegaly, Lymphoma, Breast carcinoma, Lymphadenopathy |
ORPHA:86893 |
Lymphoproliferative Syndrome 3 |
|
Lymphoproliferative disorder, Hodgkin lymphoma, Hepatosplenomegaly, Lymphadenopathy, Decreased ci... |
OMIM:618261 |
Lipodystrophy, Familial Partial, Type 4 |
|
Skeletal muscle hypertrophy, Hypertension, Lipodystrophy, Lipoatrophy |
OMIM:613877 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturity-onset diab... |
ORPHA:324575 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevat... |
OMIM:619048 |
Cheilitis Glandularis |
|
Abnormal salivary gland morphology, Neoplasm, Squamous cell carcinoma |
ORPHA:1221 |
Retinoblastoma |
|
Lymphoma, Cleft palate, Retinoblastoma, Leukemia, Ewing sarcoma, Pinealoma, Osteosarcoma |
OMIM:180200 |
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Skeletal muscle atrophy, Short stature, Lipodystrophy, Kyphoscoliosis, Cryptorchidism, Flexion co... |
ORPHA:75496 |
Turcot Syndrome With Polyposis |
|
Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Neoplasm of the central nervous system, Thyroi... |
ORPHA:99818 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Hip contracture, Scapular winging, Spinal muscular atrophy, Hyperlordosis, Kyphosis, Achilles ten... |
OMIM:615290 |
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Spinal rigidity, Flexion contracture, Scoliosis, Increased variability in muscle fiber diameter, ... |
OMIM:300717 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Autoimmune hemolytic anemia, Lymphoproliferative disorder, Splenomegaly, Jaundice, Chronic lympha... |
ORPHA:90033 |
Myopathy, Centronuclear, 1 |
|
Proximal muscle weakness in upper limbs, Facial palsy, Hyperlordosis, Centrally nucleated skeleta... |
OMIM:160150 |
Cryohydrocytosis |
|
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis |
OMIM:185020 |
Spermatogenic Failure 8 |
|
Azoospermia, Cryptozoospermia, Oligozoospermia |
OMIM:613957 |
Spastic Paraplegia 18B, Autosomal Recessive |
|
Skeletal muscle atrophy, Kyphosis, Scoliosis, Joint contracture, Lower limb muscle weakness |
OMIM:611225 |
Spermatogenic Failure 62 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619672 |
Nemaline Myopathy 7 |
|
Lumbar hyperlordosis, Kyphoscoliosis, Fatty replacement of skeletal muscle, Knee flexion contract... |
OMIM:610687 |
Syndromic Recessive X-Linked Ichthyosis |
|
Testicular seminoma, Abnormal stomach morphology, Acute leukemia |
ORPHA:281090 |
Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
Spermatogenic Failure 23 |
|
Male infertility, Azoospermia |
OMIM:617707 |
Spermatogenic Failure 4 |
|
Male infertility, Azoospermia |
OMIM:270960 |
Spermatogenic Failure, Y-Linked, 2 |
|
Male infertility, Azoospermia |
OMIM:415000 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Lymphocytosis, Hepatomegaly |
OMIM:606445 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... |
OMIM:615631 |
Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
Pressure-Induced Localized Lipoatrophy |
|
Reduced subcutaneous adipose tissue, Absence of subcutaneous fat, Lipoatrophy |
ORPHA:90160 |
Leukemia, Chronic Myeloid |
|
Ph-positive acute lymphoblastic leukemia, Chronic myelogenous leukemia |
OMIM:608232 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Splenomegaly |
OMIM:619813 |
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
|
Internally nucleated skeletal muscle fibers, Autophagic vacuoles, Increased variability in muscle... |
OMIM:618655 |
Glycogen Storage Disease Ixa1 |
|
Growth delay, Hepatomegaly, Hypoglycemia, Elevated hepatic transaminase |
OMIM:306000 |
Panniculitis-Induced Localized Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Absence of subcutaneous fat, Lipoatrophy, Vasculitis in the ... |
ORPHA:90159 |
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra... |
ORPHA:206549 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Recurrent respiratory infections, Pneumonia, Increased circulating IgE level, Squamous cell carci... |
ORPHA:217390 |
Nasu-Hakola Disease |
|
Functional abnormality of the gastrointestinal tract, Acute leukemia |
ORPHA:2770 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia |
OMIM:617441 |
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis |
|
Loss of subcutaneous adipose tissue from upper limbs, Lipodystrophy, Loss of facial adipose tissu... |
OMIM:613913 |
Premature Ovarian Failure 2B |
|
Premature ovarian insufficiency, Primary amenorrhea, Female infertility, Delayed puberty |
OMIM:300604 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... |
ORPHA:846 |
Oocyte/Zygote/Embryo Maturation Arrest 4 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:617743 |
Oocyte/Zygote/Embryo Maturation Arrest 2 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:616780 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
|
Back pain, Scapular winging, Centrally nucleated skeletal muscle fibers, Fatty replacement of ske... |
OMIM:618129 |
Oocyte/Zygote/Embryo Maturation Arrest 14 |
|
Oocyte maturation arrest, Female infertility |
OMIM:620276 |
Oocyte/Zygote/Embryo Maturation Arrest 5 |
|
Lack of oocyte pronucleus formation, Female infertility |
OMIM:617996 |
Spermatogenic Failure 64 |
|
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... |
OMIM:619696 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Splenomegaly, Recurrent pancreatitis |
OMIM:118830 |
Ring Chromosome Y Syndrome |
|
Bifid scrotum, Ambiguous genitalia, female, Ambiguous genitalia, male, Abnormality of the male ge... |
ORPHA:261529 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Short stature, Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Growth delay |
OMIM:620211 |
Spermatogenic Failure 35 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618341 |
Immunodeficiency 69 |
|
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia |
OMIM:618963 |
Squamous Cell Carcinoma, Head And Neck |
|
Squamous cell carcinoma |
OMIM:275355 |
Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Cleft soft palate, Myelodysplasia, Pure red cell aplasia, Erythroid hypop... |
ORPHA:124 |
Spermatogenic Failure 72 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:619867 |
Spermatogenic Failure 34 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:618153 |
Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase... |
OMIM:616689 |
Membranoproliferative Glomerulonephritis, X-Linked |
|
Lipodystrophy, Cardiac shunt |
OMIM:305800 |
Myopathy, Tubular Aggregate, 1 |
|
Abnormal pupil morphology, Flexion contracture, Type 2 muscle fiber atrophy, Proximal amyotrophy,... |
OMIM:160565 |
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease |
|
Recurrent cutaneous abscess formation, Squamous cell carcinoma |
OMIM:613736 |
Familial Isolated Dilated Cardiomyopathy |
|
Myopathy, Dilated cardiomyopathy, Lipoatrophy |
ORPHA:154 |
Plin1-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipoatrophy, L... |
ORPHA:280356 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Intrauterine growth retardation, Hyperglycemia, Transient neonatal diabetes mellitus |
OMIM:601410 |
Drug-Induced Localized Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Absence of subcutaneous fat, Lipoatrophy |
ORPHA:90157 |
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Thoracic scoliosis, Lumbar hyperlordosis, Quadriceps muscle weakness, Elbow flexion contracture, ... |
ORPHA:206546 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... |
ORPHA:766 |
Analbuminemia |
|
Fatigue, Lipodystrophy, Hypotension |
OMIM:616000 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Nonketotic hypoglycemia, Hypoglycemic seizures, Increased hepatic glycogen content, Neonatal hypo... |
ORPHA:293964 |
Hereditary Myopathy With Early Respiratory Failure |
|
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis muscle weakness, H... |
ORPHA:178464 |
Essential Fructosuria |
|
Abnormal erythrocyte enzyme level, Abnormal circulating enzyme concentration or activity, Hypergl... |
ORPHA:2056 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
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Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy |
OMIM:618852 |
Glycogen Storage Disease Iii |
|
Elevated hepatic transaminase, Hepatomegaly, Short stature, Hypoglycemia, Hepatic fibrosis |
OMIM:232400 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
Ornithine Transcarbamylase Deficiency |
|
Hepatic failure, Hypoglycemia |
ORPHA:664 |
Diffuse Cutaneous Mastocytosis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Abnormality of the spleen, Lymphadenopathy, Abnormalit... |
ORPHA:79456 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
|
Cataract, Proximal upper limb amyotrophy, Myopathy, Shoulder girdle muscle weakness, Limb-girdle ... |
OMIM:609115 |
Myopathy, Distal, 1 |
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Toe extensor amyotrophy, Lumbar hyperlordosis, Tibialis anterior muscle atrophy, Facial palsy, Ra... |
OMIM:160500 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
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Elevated hepatic transaminase, Short stature, Ketotic hypoglycemia, Glycosuria, Postprandial hype... |
ORPHA:2089 |
Spermatogenic Failure, X-Linked, 5 |
|
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... |
OMIM:301099 |
Juvenile Polyposis Syndrome |
|
Neoplasm of the stomach, Rectal prolapse, Multiple gastric polyps, Hematochezia, Colon cancer, Du... |
OMIM:174900 |
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Nonprogressive muscular atrophy, Distal amyotrophy, Cachexia |
ORPHA:1216 |
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia |
|
Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, I... |
OMIM:117000 |
Oocyte/Zygote/Embryo Maturation Arrest 13 |
|
Female infertility |
OMIM:620154 |
Oocyte/Zygote/Embryo Maturation Arrest 8 |
|
Female infertility |
OMIM:619009 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
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Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Shoulder flexion contracture, S... |
OMIM:619566 |
Sea-Blue Histiocyte Disease |
|
Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis |
OMIM:269600 |
Renpenning Syndrome |
|
Decreased testicular size, Abnormal hairshaft morphology, Alopecia, Severe short stature, Catarac... |
ORPHA:3242 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Hyperlordosis, Flexion contracture, Muscl... |
OMIM:253700 |
Activated Pi3K-Delta Syndrome |
|
Hepatomegaly, Pneumonia, Splenomegaly, Lymphoma, Recurrent tonsillitis, Bronchiectasis, Lymphaden... |
ORPHA:397596 |
Oocyte/Zygote/Embryo Maturation Arrest 10 |
|
Female infertility |
OMIM:619176 |
Refractory Anemia With Excess Blasts |
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Acute myeloid leukemia, Single lineage myelodysplasia, Anemia of inadequate production, Leukocyto... |
ORPHA:86839 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1 |
|
Hypoglycosylation of alpha-dystroglycan, Lumbar hyperlordosis, Spinal rigidity, Limb-girdle muscl... |
OMIM:609308 |
Oocyte/Zygote/Embryo Maturation Arrest 12 |
|
Female infertility |
OMIM:619697 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 3 |
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Spinal muscular atrophy, Hyperlordosis, Distal amyotrophy, Distal lower limb muscle weakness, Int... |
OMIM:607088 |
Acute Promyelocytic Leukemia |
|
Acute promyelocytic leukemia |
OMIM:612376 |
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
|
Os odontoideum, Hand muscle atrophy, Lumbar hyperlordosis, Short stature, Spondylolisthesis at L5... |
OMIM:600561 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Hyperinsulinemia, Hypoglycemia |
OMIM:606528 |
Spermatogenic Failure 20 |
|
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617593 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
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Short stature, Hypoglycemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic keto... |
OMIM:262190 |
Progressive Familial Intrahepatic Cholestasis |
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Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Cholestasis, Neoplasm |
ORPHA:172 |
Spermatogenic Failure 46 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:619095 |
Spermatogenic Failure 33 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618152 |
Spermatogenic Failure 37 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618429 |
Spermatogenic Failure 18 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:617576 |
Spermatogenic Failure 27 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:617965 |
Premature Ovarian Failure 19 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility |
OMIM:619245 |
Spermatogenic Failure 81 |
|
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia |
OMIM:620277 |
Lymphoproliferative Syndrome, X-Linked, 1 |
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Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Aplastic anemia, Dysgammaglobulinem... |
OMIM:308240 |
Congenital Myopathy 2A, Typical, Autosomal Dominant |
|
Facial palsy, Spinal rigidity, Hyperlordosis, Limb muscle weakness, Type 1 muscle fiber predomina... |
OMIM:161800 |
Ruijs-Aalfs Syndrome |
|
Thoracic kyphoscoliosis, Skeletal muscle atrophy, Cataract, Lipodystrophy, Short stature, Posteri... |
OMIM:616200 |
Legius Syndrome |
|
Acute monocytic leukemia, Non-small cell lung carcinoma, Neurofibroma, Desmoid tumors, Ovarian ne... |
ORPHA:137605 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Lipoatrophy, Congestive heart failur... |
ORPHA:2348 |
Congenital Myopathy 16 |
|
Scapular winging, Lumbar hyperlordosis, Spinal rigidity, Flexion contracture, Scoliosis, EMG: myo... |
OMIM:618524 |
Acute Monoblastic/Monocytic Leukemia |
|
Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Lymphocytosis, Hypochromic anem... |
ORPHA:514 |
Immunodeficiency 54 |
|
Chromosome breakage, Short stature, Postnatal growth retardation, Intrauterine growth retardation... |
OMIM:609981 |
Gray Platelet Syndrome |
|
Splenomegaly, Thrombocytopenia, Myelodysplasia |
ORPHA:721 |
Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Small for gestational age, Kyphoscoliosis, Centrally nucleated skeletal muscle fibers, Weakness o... |
OMIM:618484 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Vertebral fusion, Skeletal muscle atrophy, Elbow contracture, Facial palsy, Hyperlordosis, Kyphos... |
OMIM:606612 |
Myopathy, Myofibrillar, 7 |
|
Skeletal muscle atrophy, Multiple joint contractures, Lumbar hyperlordosis, Shoulder flexion cont... |
OMIM:617114 |
Microcephalic Primordial Dwarfism, Montreal Type |
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Severe short stature, Lipoatrophy, Kyphosis, Cryptorchidism, Vertebral segmentation defect, Scoli... |
ORPHA:2617 |
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Postnatal growth retardation, Short stature, Neonatal hypoglycemia, Hypoglycemia |
ORPHA:231140 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Cataract, Hypergonadotropic hypogonadism, Short stature, Hyperlordosis, Cryptorchidism, Kyphosis,... |
ORPHA:3085 |
Isolated Glycerol Kinase Deficiency |
|
Short stature, Hyperlordosis, Cryptorchidism, Myopathy, Scoliosis |
ORPHA:408 |
Dihydrolipoamide Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Decreased liver function |
OMIM:246900 |
Myopathic Ehlers-Danlos Syndrome |
|
Exercise intolerance, Congenital muscular torticollis, Decreased muscle mass, Multiple joint cont... |
ORPHA:536516 |
Ataxia-Telangiectasia |
|
Decreased circulating IgG level, Decreased circulating IgG2 level, Lymphoma, Bronchiectasis, Hodg... |
OMIM:208900 |
Hyperkeratosis Lenticularis Perstans |
|
Basal cell carcinoma, Squamous cell carcinoma |
ORPHA:409 |
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2 |
|
Reduced subcutaneous adipose tissue, Increased susceptibility to spontaneous sister chromatid exc... |
OMIM:618097 |
Acromesomelic Dysplasia, Grebe Type |
|
Sarcoma |
ORPHA:2098 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neonatal death |
OMIM:257100 |
Congenital Macroglossia |
|
Macroglossia, Neurofibroma, Abnormal hepatic glycogen storage |
ORPHA:2430 |
Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3 |
|
Scapular winging, Thoracic scoliosis, Calf muscle pseudohypertrophy, Hyperlordosis, Achilles tend... |
ORPHA:62 |
Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Lymphoproliferative disorder, Splenomegaly, Lymphoma... |
OMIM:615122 |
Combined Oxidative Phosphorylation Deficiency 36 |
|
Elevated circulating alanine aminotransferase concentration, Hypoglycemia, Elevated circulating a... |
OMIM:617950 |
Aicardi Syndrome |
|
Hiatus hernia, Recurrent pneumonia, Teratoma, Carcinoma, Cleft palate, Lipoma, Hepatoblastoma, Me... |
OMIM:304050 |
Fanconi Anemia, Complementation Group O |
|
Chromosome breakage, Short stature, External genital hypoplasia, Cryptorchidism, Small thenar emi... |
OMIM:613390 |
Inclusion Body Myopathy And Brain White Matter Abnormalities |
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Low back pain, Scapular winging, Proximal muscle weakness in upper limbs, Centrally nucleated ske... |
OMIM:619733 |
Mucolipidosis Type Iii |
|
Fatigue, Inguinal hernia, Corneal opacity, Hyperlordosis, Abnormal form of the vertebral bodies |
ORPHA:577 |
Familial Thrombocytosis |
|
Acute myeloid leukemia, Myelodysplasia, Splenomegaly, Chronic myelogenous leukemia, Thrombocytosis |
ORPHA:71493 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatomegaly, Hypoglycemia, Elevated circulating alanine aminotransferase concentration, Increase... |
OMIM:261680 |
Spermatogenic Failure 43 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618751 |
Spermatogenic Failure 49 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619094 |
Spermatogenic Failure 19 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:617592 |
Spermatogenic Failure 82 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... |
OMIM:620353 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Splenomegaly, Hepatomegaly |
OMIM:619175 |
Lig4 Syndrome |
|
Hepatomegaly, Pancytopenia, Malabsorption, Leukocytosis, Lymphoma, Lymphadenopathy, Acute leukemia |
ORPHA:99812 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Telangiectasia of the skin, Kyphosis... |
OMIM:615381 |
Infantile Liver Failure Syndrome 2 |
|
Elevated hepatic transaminase, Jaundice, Hypoglycemia, Acute hepatic failure |
OMIM:616483 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Sinoatrial block, Atrial flutter, Atrial fibrillation, Lipodystrophy, Sudden cardiac death, Cardi... |
ORPHA:300751 |
Parastremmatic Dwarfism |
|
Severe short stature, Short neck, Kyphosis, Flexion contracture, Scoliosis |
OMIM:168400 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula... |
OMIM:616860 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... |
OMIM:314050 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... |
ORPHA:488191 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia |
ORPHA:35878 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Generalized lymphadenopathy, In... |
OMIM:615559 |
Hydatidiform Mole, Recurrent, 3 |
|
Female infertility |
OMIM:618431 |
Hydatidiform Mole, Recurrent, 4 |
|
Female infertility |
OMIM:618432 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Reduced subcutaneous adipose tissue, Lipodystrophy, Short stature, Generalized lipodystrophy |
OMIM:612526 |
Becker Nevus Syndrome |
|
Hamartoma, Lipoatrophy, Kyphosis, Scoliosis, Spina bifida occulta, Shoulder girdle muscle atrophy |
ORPHA:64755 |
Flynn-Aird Syndrome |
|
Skeletal muscle atrophy, Alopecia, Cataract, Cachexia, Kyphosis, Scoliosis |
ORPHA:2047 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Back pain, Scapular winging, Lumbar hyperlordosis, Pelvic girdle muscle atrophy, Facial palsy, Pe... |
OMIM:167320 |
Isochromosomy Yp |
|
Male infertility, Azoospermia, Ambiguous genitalia, Decreased testicular size |
ORPHA:98797 |
Adrenocortical Carcinoma |
|
Adrenocortical carcinoma, Lung adenocarcinoma |
ORPHA:1501 |
Polycythemia Vera |
|
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
3-Methylglutaconic Aciduria Type 4 |
|
Hypoglycemia, Decreased liver function |
ORPHA:67048 |
Lipodystrophy-Intellectual Disability-Deafness Syndrome |
|
Intrauterine growth retardation, Short stature, Generalized lipodystrophy |
ORPHA:50811 |
Spherocytosis, Type 4 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis |
OMIM:612653 |
Waldenström Macroglobulinemia |
|
Normocytic anemia, Hepatomegaly, Gastrointestinal hemorrhage, Abnormality of neutrophils, Malabso... |
ORPHA:33226 |
Myopathy, Distal, 7, Adult-Onset, X-Linked |
|
Proximal muscle weakness in upper limbs, Scapular winging, Cataract, Centrally nucleated skeletal... |
OMIM:301075 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hepatomegaly, Maternal diabetes, Hyperinsulinemia, Hypoglycemic seizures, Fasting hypoglycemia, H... |
ORPHA:276580 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9 |
|
Hypoglycosylation of alpha-dystroglycan, Lumbar hyperlordosis, Ankle flexion contracture, Limb-gi... |
OMIM:613818 |
Childhood-Onset Nemaline Myopathy |
|
Exercise intolerance, Scapular winging, Spinal rigidity, Flexion contracture, Increased muscle li... |
ORPHA:171439 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Torticollis, Short neck, Spinal rigidity, Kyphosis, Abnormal muscle fiber morphology, Flexion con... |
ORPHA:75840 |
Nijmegen Breakage Syndrome-Like Disorder |
|
Growth delay, Short stature, Chromosomal breakage induced by ionizing radiation |
OMIM:613078 |
Scheuermann Disease |
|
Kyphosis, Morbus Scheuermann |
OMIM:181440 |
Mulibrey Nanism |
|
Intrauterine growth retardation, Short stature, Cachexia |
ORPHA:2576 |
Combined Oxidative Phosphorylation Deficiency 47 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Cryptorchidism, Intrauterine growth re... |
OMIM:618958 |
Terminal Osseous Dysplasia |
|
Fibroma, Cleft palate |
OMIM:300244 |
Fragile X Syndrome |
|
Macroorchidism, postpubertal, Folate-dependent fragile site at Xq28, Congenital macroorchidism, S... |
OMIM:300624 |
Spherocytosis, Type 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis |
OMIM:616649 |
Acquired Partial Lipodystrophy |
|
Myopathy, Arthralgia, Lipoatrophy |
ORPHA:79087 |
Immunodeficiency 105 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Panc... |
OMIM:619924 |
Hyperprolactinemia |
|
Menorrhagia, Oligomenorrhea, Female infertility |
OMIM:615555 |
Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
Myofibrillar Myopathy 11 |
|
Fatigue, Centrally nucleated skeletal muscle fibers, Overweight, Z-band streaming, Calf muscle hy... |
OMIM:619178 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Recurrent respiratory infections, Recurrent sinopulmonary infections, Splenomegaly, Bronchiectasi... |
OMIM:615513 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Elevated hepatic transaminase, Hyperglycemia, Hyperinsulinemia, Short stature |
ORPHA:329249 |
Intellectual Developmental Disorder, X-Linked 82 |
|
Kyphosis, Scoliosis |
OMIM:300518 |
Acromesomelic Dysplasia, Maroteaux Type |
|
Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Disproportionate short stature, Abnormal form of... |
ORPHA:40 |
Riboflavin Transporter Deficiency |
|
Skeletal muscle atrophy, Facial palsy, Cachexia, Hypogonadism, Limb muscle weakness, Iris hypopig... |
ORPHA:97229 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Prolonged QT interval, Exercise intolerance, Tachycardia, Atrial fibrillation, Lipodystrophy, Spi... |
OMIM:613327 |
Retinoblastoma |
|
Glioma, Rhabdomyosarcoma, Lymphoma, Pineoblastoma, Leiomyosarcoma, Cleft palate, Melanoma, Retino... |
ORPHA:790 |
Birt-Hogg-Dube Syndrome 1 |
|
Renal neoplasm, Multiple pulmonary cysts, Cutaneous leiomyosarcoma, Spontaneous pneumothorax, Tri... |
OMIM:135150 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Fulminant hepatic failure, Hepatic necrosis, Hypoglycemic seizures, Growth delay, Decreased 3-hyd... |
OMIM:231530 |
Endocardial Fibroelastosis |
|
Cryptorchidism, Hypoglycemia |
ORPHA:2022 |
Follicular Lymphoma |
|
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphoma, Lymphadenopa... |
ORPHA:545 |
Spermatogenic Failure 42 |
|
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... |
OMIM:618745 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11 |
|
Intrauterine growth retardation, Hypoglycemia |
ORPHA:231147 |
Myelocytic Leukemia-Like Syndrome, Familial, Chronic |
|
Chronic myelogenous leukemia |
OMIM:600080 |
Severe X-Linked Mitochondrial Encephalomyopathy |
|
Skeletal muscle atrophy, Increased variability in muscle fiber diameter, Increased connective tissue |
ORPHA:238329 |
Spermatogenic Failure 29 |
|
Male infertility, Non-obstructive azoospermia, Immotile sperm |
OMIM:618091 |
Multiple Endocrine Neoplasia, Type Iv |
|
Pancreatic endocrine tumor, Pituitary adenoma, Carcinoma, Parathyroid adenoma, Renal angiomyolipo... |
OMIM:610755 |
Spermatogenic Failure, X-Linked, 6 |
|
Male infertility, Abnormality of male external genitalia, Coiled sperm flagella, Reduced sperm mo... |
OMIM:301101 |
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency |
|
Hypoglycemia |
OMIM:610090 |
Bloom Syndrome |
|
Bronchitis, Neoplasm, Gastroesophageal reflux, Neoplasm of the breast, Stomach cancer, Decreased ... |
ORPHA:125 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Autophagic vacuoles, Facial hypotonia, Fatty replacement of skeletal muscle, Shoulder girdle musc... |
ORPHA:266 |
Caspase 8 Deficiency |
|
Decreased circulating IgG level, Recurrent sinopulmonary infections, Complete or near-complete ab... |
OMIM:607271 |
Alg3-Cdg |
|
Cataract, Lipodystrophy, Macroglossia, Cardiomyopathy, Arthrogryposis multiplex congenita |
ORPHA:79321 |
Fanconi Anemia, Complementation Group S |
|
Chromosome breakage, Short stature, Low anterior hairline, Ovarian neoplasm, Long eyelashes, Ovar... |
OMIM:617883 |
Congenital Myopathy 6 With Ophthalmoplegia |
|
Scapular winging, Muscle fiber inclusion bodies, Myopathy, Congenital contracture, Scoliosis, Typ... |
OMIM:605637 |
Bloom Syndrome |
|
Elevated hemoglobin A1c, Lymphoma, Recurrent upper respiratory tract infections, Bronchiectasis, ... |
OMIM:210900 |
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
|
Increased connective tissue, Keratitis, Scarring alopecia of scalp, Motheaten muscle fibers, Musc... |
OMIM:226670 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 16 |
|
Failure to thrive, Short stature, Chromosomal breakage induced by crosslinking agents, Decreased ... |
OMIM:619060 |
Polycythemia Vera |
|
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Myelodysplasia, Portal vein throm... |
ORPHA:729 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Glucose intolerance, Hyperglycemia |
OMIM:307500 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Thr... |
OMIM:603552 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipodystrophy,... |
ORPHA:280365 |
Oocyte/Zygote/Embryo Maturation Arrest 11 |
|
Female infertility |
OMIM:619643 |
Oocyte/Zygote/Embryo Maturation Arrest 6 |
|
Female infertility |
OMIM:618353 |
Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
Lipase Deficiency, Combined |
|
Lipodystrophy |
OMIM:246650 |
Oocyte/Zygote/Embryo Maturation Arrest 15 |
|
Female infertility |
OMIM:616814 |
Oocyte/Zygote/Embryo Maturation Arrest 3 |
|
Female infertility |
OMIM:617712 |
Oocyte/Zygote/Embryo Maturation Arrest 7 |
|
Female infertility |
OMIM:618550 |
Oocyte/Zygote/Embryo Maturation Arrest 18 |
|
Female infertility |
OMIM:620332 |
Oocyte/Zygote/Embryo Maturation Arrest 19 |
|
Female infertility |
OMIM:620333 |
Oocyte/Zygote/Embryo Maturation Arrest 1 |
|
Female infertility |
OMIM:615774 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 |
|
Fatty replacement of skeletal muscle, Calf muscle hypertrophy, Proximal muscle weakness in lower ... |
OMIM:618848 |
Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617980 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N... |
OMIM:235700 |
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency |
|
Skeletal muscle atrophy, Torticollis, Fatty replacement of skeletal muscle, Scoliosis, Increased ... |
OMIM:613204 |
Immunodeficiency 52 |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... |
OMIM:617514 |
Myasthenic Syndrome, Congenital, 2A, Slow-Channel |
|
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Knee flexion contracture, Myopathy, T... |
OMIM:616313 |
Congenital Myopathy 3 With Rigid Spine |
|
Failure to thrive, Decreased body weight, Facial palsy, Spinal rigidity, Centrally nucleated skel... |
OMIM:602771 |
Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617907 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Elevated hepatic transaminase, Hypoglycemia, Decreased liver function |
OMIM:615160 |
Muir-Torre Syndrome |
|
Renal neoplasm, Endometrial carcinoma, Laryngeal carcinoma, Neoplasm of the stomach, Salivary gla... |
ORPHA:587 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Lumbar hyperlordosis, Spinal rigidity, Centrally nucleated skeletal muscle fibers, Limb-girdle mu... |
ORPHA:86812 |
Erythrocytosis, Familial, 3 |
|
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:609820 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Hepatic failure, Hypoglycemia, Hepatic steatosis |
OMIM:617872 |
Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Lymphoproliferative disorder, B-cell lym... |
OMIM:613011 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17 |
|
Lumbar hyperlordosis, Flexion contracture, Muscular dystrophy, Skeletal muscle atrophy |
OMIM:613723 |
Congenital Myopathy 20 |
|
Skeletal muscle atrophy, Scapular winging, Failure to thrive, Elbow contracture, Centrally nuclea... |
OMIM:620310 |
Acrogeria |
|
Lipoatrophy, Short stature, Telangiectasia of the skin, Scoliosis |
ORPHA:2500 |
Spermatogenic Failure 83 |
|
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... |
OMIM:620354 |
Spermatogenic Failure 38 |
|
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... |
OMIM:618433 |
Diastrophic Dysplasia |
|
Hip contracture, Lumbar hyperlordosis, Small for gestational age, Cervical kyphosis, Kyphoscolios... |
OMIM:222600 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Premature ovarian insufficiency, Short stature, Female infertility, Centrally nucleated skeletal ... |
OMIM:619518 |
Schöpf-Schulz-Passarge Syndrome |
|
Ovarian neoplasm, Basal cell carcinoma, Squamous cell carcinoma |
ORPHA:50944 |
Schnitzler Syndrome |
|
Hepatomegaly, Splenomegaly, Leukocytosis, Lymphoma, Lymphadenopathy, Increased circulating IgM le... |
ORPHA:37748 |
Congenital Myopathy 1B, Autosomal Recessive |
|
Skeletal muscle atrophy, Facial palsy, Centrally nucleated skeletal muscle fibers, Increased conn... |
OMIM:255320 |
Lipe-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Proximal muscle weakness in upper limbs, Lipodystro... |
ORPHA:435660 |
Dicarboxylic Aminoaciduria |
|
Fasting hypoglycemia |
OMIM:222730 |
Adiposis Dolorosa |
|
Fatigue, Painful subcutaneous lipomas, Obesity, Chronic pain, Arthralgia |
OMIM:103200 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Postnatal growth ret... |
OMIM:617093 |
Palmoplantar Carcinoma, Multiple Self-Healing |
|
Carcinoma, Squamous cell carcinoma |
OMIM:615225 |
Congenital Myopathy 10A, Severe Variant |
|
Facial palsy, Camptodactyly of finger, Increased variability in muscle fiber diameter, Muscle fib... |
OMIM:614399 |
Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Muscle fiber inclusion bodies, Autophagic vacuoles, Limb-girdle muscle weakness, Accumulation of ... |
ORPHA:399058 |
Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Spinal rigidity, Kyphosis, Flexion contracture, Myopathy, Generalized amyotrophy, Scoliosis |
OMIM:618323 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Short stature, Hypoglycemia, Elev... |
OMIM:616026 |
Opsoclonus-Myoclonus Syndrome |
|
Ovarian teratoma, Small cell lung carcinoma, Breast carcinoma, Neoplasm of the lung, Melanoma, Ne... |
ORPHA:1183 |
Spherocytosis, Type 1 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis |
OMIM:182900 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Pudendal Neuralgia |
|
Neoplasm of the genitourinary tract, Anal canal adenocarcinoma, Genital neoplasm |
ORPHA:60039 |
Cowden Syndrome 1 |
|
Colonic diverticula, Fibroadenoma of the breast, Breast carcinoma, Carcinoma, Hamartomatous polyp... |
OMIM:158350 |
Congenital Myopathy 10B, Mild Variant |
|
Elbow contracture, Hyperlordosis, Fatty replacement of skeletal muscle, Achilles tendon contractu... |
OMIM:620249 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
|
Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Facial palsy, Centrally nucleated sk... |
OMIM:254110 |
Immunodeficiency 104 |
|
Splenomegaly, Lymphadenopathy, T lymphocytopenia, Hepatomegaly |
OMIM:608971 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3 |
|
Muscle fiber inclusion bodies, Centrally nucleated skeletal muscle fibers, Proximal muscle weakne... |
OMIM:615424 |
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Scapular winging, Lumbar hyperlordosis, Calf muscle pseudohypertrophy, Achilles tendon contractur... |
ORPHA:353 |
Fanconi Anemia, Complementation Group J |
|
Postnatal growth retardation, Intrauterine growth retardation, Chromosomal breakage induced by cr... |
OMIM:609054 |
Tuberous Sclerosis 2 |
|
Chordoma, Astrocytoma, Angiofibromas, Retinal hamartoma, Ependymoma, Gingival fibromatosis, Subep... |
OMIM:613254 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Reactive hypoglycemia, Hyperinsulinemia, Fasting hypoglycemia, Hyperinsulinemic hypoglycemia, Hyp... |
ORPHA:276608 |
Congenital Myopathy 5 With Cardiomyopathy |
|
Sudden cardiac death, Centrally nucleated skeletal muscle fibers, Increased variability in muscle... |
OMIM:611705 |
Adult-Onset Nemaline Myopathy |
|
Flexion contracture, Increased muscle lipid content, Upper limb muscle weakness, Myopathy, Myalgi... |
ORPHA:171442 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Inguinal hernia, Cataract, Small for gestational age, Kyphosis, Decreased body weight |
OMIM:618392 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 |
|
Fatigue, Hyperlordosis, Skeletal muscle hypertrophy, Calf muscle hypertrophy, Muscular dystrophy,... |
OMIM:613157 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Anemia |
ORPHA:100024 |
Gist-Plus Syndrome |
|
Gastrointestinal stroma tumor, Intussusception, Intestinal polyposis |
OMIM:175510 |
Cidec-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Loss of gluteal subcutaneous adipose... |
ORPHA:435651 |
Morbid Obesity And Spermatogenic Failure |
|
Azoospermia, Obesity, Infertility, Oligozoospermia |
OMIM:615703 |
Ghosal Hematodiaphyseal Dysplasia |
|
Splenomegaly, Anemia |
ORPHA:1802 |
Myopathy, Centronuclear, 2 |
|
Scapular winging, Facial palsy, Hyperlordosis, Centrally nucleated skeletal muscle fibers, Kyphos... |
OMIM:255200 |
Ataxia-Telangiectasia |
|
Skeletal muscle atrophy, Abnormality of chromosome stability, Hypopigmentation of hair, Short sta... |
ORPHA:100 |
19Q13.11 Microdeletion Syndrome |
|
Bifid scrotum, Cataract, Hypospadias, Supernumerary nipple, Cachexia, Cryptorchidism, Fine hair, ... |
ORPHA:217346 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Kyphosis, Upper limb amyotrophy, Scoliosis, Lower limb amyotrophy, Foot dorsiflexor weakness |
OMIM:617087 |
Elliptocytosis 1 |
|
Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis |
OMIM:611804 |
Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Centrally nucleated skeletal muscle fibers, Spinal rigidity, Angulated muscle fibers, Muscular dy... |
OMIM:617066 |
Spinal Muscular Atrophy, Type Iv |
|
Spinal muscular atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Centrally nucleated ... |
OMIM:271150 |
Junctional Epidermolysis Bullosa Inversa |
|
Gastrointestinal inflammation, Squamous cell carcinoma, Basal cell carcinoma, Cutaneous melanoma,... |
ORPHA:79405 |
Thrombocythemia 1 |
|
Splenomegaly, Thrombocytosis |
OMIM:187950 |
Myasthenic Syndrome, Congenital, 5 |
|
Decreased muscle mass, Hyperlordosis, Type 2 muscle fiber atrophy, Myopathy, Type 1 muscle fiber ... |
OMIM:603034 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Short stature, Hypoglycemia |
ORPHA:364 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Fibrosarcoma, Histiocytoma, Osteosarcoma |
OMIM:112250 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Ragged-red muscle fibers, Slender build, Cachexia, Weight loss |
OMIM:613662 |
Kahrizi Syndrome |
|
Cataract, Elbow contracture, Knee flexion contracture, Thoracic kyphosis, Iris coloboma, Facial h... |
OMIM:612713 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Intrauterine growth retardation, Hepatic steatosis, Ketotic hypoglycemia |
ORPHA:26792 |
Congenital Myasthenic Syndromes With Glycosylation Defect |
|
Scapular winging, Lumbar hyperlordosis, Facial palsy, Generalized weakness of limb muscles, Limb-... |
ORPHA:353327 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Hip contracture, Failure to thrive in infancy, Facial hypotonia, Cachexia, Short neck, Scoliosis,... |
OMIM:616801 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Macrovesicular hepatic steatosis, Increased circulat... |
OMIM:600649 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Recurrent respiratory infections, Decreased proportion of marginal zone B cells, Au... |
OMIM:619375 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Hypoglycemia, Ele... |
OMIM:619386 |
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Kyphosis, Arrhythmia, Short stature, Camptodactyly |
OMIM:618453 |
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Short stature, Cachexia |
ORPHA:1144 |
Short Syndrome |
|
Inguinal hernia, Cataract, Lipodystrophy, Lipoatrophy, Rieger anomaly, Absence of subcutaneous fa... |
OMIM:269880 |
Indolent Systemic Mastocytosis |
|
Hepatomegaly, Hematological neoplasm, Splenomegaly, Lymphadenopathy, Increased proportion of CD25... |
ORPHA:98848 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Splenomegaly, Recurrent upper respiratory tract infections, Abnormal pulmonary interstitial morph... |
OMIM:613101 |
Encephalopathy Due To Prosaposin Deficiency |
|
Splenomegaly, Hepatomegaly |
ORPHA:139406 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4 |
|
Hypoglycosylation of alpha-dystroglycan, Peroneal muscle weakness, Hyperlordosis, Flexion contrac... |
OMIM:611588 |
Tyrosinemia Type 1 |
|
Splenomegaly, Hepatocellular carcinoma, Hepatomegaly |
ORPHA:882 |
Acth Deficiency, Isolated |
|
Cholestasis, Jaundice, Fasting hypoglycemia |
OMIM:201400 |
Xeroderma Pigmentosum Variant |
|
Melanoma, Basal cell carcinoma, Squamous cell carcinoma |
ORPHA:90342 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated c... |
OMIM:617049 |
Full Schwannomatosis |
|
Cataract, Neoplasm of the anterior pituitary, Bilateral vestibular schwannoma, Schwannoma, Periph... |
ORPHA:93921 |
Erythrocytosis, Familial, 4 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:611783 |
Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Splenomegaly, Fetal ascites, Hepatomegaly |
OMIM:619462 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Male infertility, Bilateral cryptorchidism, Inguinal hernia |
OMIM:261550 |
Mitochondrial Pyruvate Carrier Deficiency |
|
Hepatomegaly, Hypoglycemia |
OMIM:614741 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Abnormal erythrocyte enzyme level, Increased fecal coproporphyrin 3, Myeloproliferative disorder |
ORPHA:100924 |
Fanconi-Bickel Syndrome |
|
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Elevated circulating aspartate amino... |
ORPHA:2088 |
Benign Schwannoma |
|
Intestinal polyposis, Schwannoma, Peripheral schwannoma, Scleral schwannoma, Vestibular schwannom... |
ORPHA:252164 |
Fanconi Anemia, Complementation Group C |
|
Hypergonadotropic hypogonadism, Short stature, Small for gestational age, Cryptorchidism, Flexion... |
OMIM:227645 |
Cancer-Associated Retinopathy |
|
Neoplasm of the pancreas, Pancreatic adenocarcinoma, Testicular neoplasm, Hematological neoplasm,... |
ORPHA:71505 |
Ectodermal Dysplasia, Trichoodontoonychial Type |
|
Lipoatrophy |
ORPHA:1818 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Recurrent sinopulmonary infections, Eosinophilia, Eosinophilic infiltration of the esophagus, Rec... |
OMIM:243700 |
Pleuropulmonary Blastoma |
|
Medulloblastoma, Pleuropulmonary blastoma, Rhabdomyosarcoma |
OMIM:601200 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis anterior muscle at... |
ORPHA:98905 |
Short Syndrome |
|
Inguinal hernia, Severe short stature, Lipodystrophy, Abnormal dental enamel morphology, Corneal ... |
ORPHA:3163 |
Dermatomyositis |
|
Recurrent respiratory infections, Abnormal eosinophil morphology, Gastrointestinal stroma tumor, ... |
ORPHA:221 |
Fanconi Anemia, Complementation Group A |
|
Male infertility, Hypergonadotropic hypogonadism, Short stature, Small for gestational age, Crypt... |
OMIM:227650 |
Immunodeficiency 48 |
|
Hepatomegaly, Recurrent respiratory infections, Pneumonia, Absence of CD8-positive T cells, Splen... |
OMIM:269840 |
Oslam Syndrome |
|
Neoplasm, Anemia, Osteosarcoma |
OMIM:165660 |
Congenital Myopathy 4A, Autosomal Dominant |
|
Lumbar hyperlordosis, Limb joint contracture, Facial palsy, Centrally nucleated skeletal muscle f... |
OMIM:255310 |
Idiopathic Localized Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Absence of subcutaneous fat, Lipoatrophy |
ORPHA:90158 |
Silver-Russell Syndrome |
|
Abnormality of male external genitalia, Decreased muscle mass, Short stature, Failure to thrive i... |
ORPHA:813 |
Lipodystrophy, Familial Partial, Type 3 |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipodystrophy,... |
OMIM:604367 |
Isochromosomy Yq |
|
Male infertility, Decreased testicular size, Gonadal tissue inappropriate for external genitalia ... |
ORPHA:98798 |
Necrobiosis Lipoidica |
|
Granuloma, Abnormality of neutrophil physiology, Squamous cell carcinoma |
ORPHA:542592 |
Immunodeficiency, Common Variable, 7 |
|
Recurrent respiratory infections, Splenomegaly, Chronic (near) absent circulating IgG4, Reduced i... |
OMIM:614699 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Hyperinsulinemia, Hypoglycemic seizures, Fasting hypoglycemia, Hyperinsulinemic hyp... |
ORPHA:276575 |
Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Precocious puberty, Abnormal hair morphology, Long penis, Oligozoospermia, Macr... |
ORPHA:3000 |
Orthostatic Hypotension 2 |
|
Hypoglycemia |
OMIM:618182 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia |
OMIM:610539 |
Niemann-Pick Disease, Type B |
|
Hepatomegaly, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly, Sea-blue histiocytosis, Anemia |
OMIM:607616 |
Diencephalic Syndrome |
|
Long penis, Cachexia, Decreased body weight |
ORPHA:1672 |
Congenital Myopathy 8 |
|
Internally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Abno... |
OMIM:618654 |
Lynch Syndrome 8 |
|
Endometrial carcinoma, Adenomatous colonic polyposis, Colon cancer, Hereditary nonpolyposis color... |
OMIM:613244 |
Hepatitis, Fulminant Viral, Susceptibility To |
|
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Fulminant hepatitis, Type I diabetes melli... |
OMIM:618549 |
Spermatogenic Failure 78 |
|
Male infertility, Microcephalic sperm head, Tapered sperm head |
OMIM:620170 |
Spermatogenic Failure 2 |
|
Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia |
OMIM:108420 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Intrauterine growth retardation, Congenital generalized lipodystrophy, Short stature, Generalized... |
OMIM:608154 |
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Multiple joint contractures, Centrally nucleated skeletal muscle fibers, Spinal rigidity, Cryptor... |
ORPHA:486815 |
Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Reactive hypoglycemia, Hypoglycemic seizures, Recurrent hypoglycemia, Hyperinsuline... |
ORPHA:276556 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Hepatomegaly, Autoimmune hemolytic anemia, Atrophic gastritis, Pneumonia, Pure red cell aplasia, ... |
ORPHA:436159 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibers, Kyphosis, E... |
OMIM:618138 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Cataract, Kyphosis, Abnormality of the ovary, Hypogonadism, Congenital muscular dystrophy, Decrea... |
ORPHA:1875 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Hyperplasia of the Leydig cells, Decreased female libido, Hypogonadotropic hypogonadism, Female h... |
ORPHA:52901 |
Ullrich Congenital Muscular Dystrophy 1 |
|
Torticollis, Reduced muscle collagen VI, Facial palsy, Slender build, Spinal rigidity, Kyphosis, ... |
OMIM:254090 |
Xfe Progeroid Syndrome |
|
Severe short stature, Premature ovarian insufficiency, Cachexia, Absence of subcutaneous fat, Def... |
OMIM:610965 |
3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
Hypoglycemia |
ORPHA:6 |
Erythrocytosis, Familial, 1 |
|
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin |
OMIM:133100 |
King-Denborough Syndrome |
|
Lumbar hyperlordosis, Short stature, Kyphoscoliosis, Short neck, Bilateral cryptorchidism, Crypto... |
OMIM:619542 |
Aredyld Syndrome |
|
Lipoatrophy, Short stature, Abnormal dental enamel morphology, Cachexia, Scoliosis, Intrauterine ... |
ORPHA:1133 |
Oncogenic Osteomalacia |
|
Neoplasm of the skeletal system, Neoplasm of head and neck, Neurofibroma, Carcinoma, Giant cell t... |
ORPHA:352540 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Splenomegaly, Increased B cell count |
OMIM:616452 |
Temple Syndrome |
|
Short stature, Postnatal growth retardation, Cryptorchidism, Recurrent hypoglycemia, Type II diab... |
ORPHA:254516 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal vein thrombosis, Splenomegaly, Portal hypertension, Hepatomegaly |
OMIM:610293 |
Lipodystrophy, Familial Partial, Type 2 |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipodystrophy,... |
OMIM:151660 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hypertension, Lipoatrophy |
ORPHA:79084 |
Classic Mycosis Fungoides |
|
Hepatomegaly, Cutaneous T-cell lymphoma, Splenomegaly, Lymphoma, Lymphadenopathy, Neoplasm of the... |
ORPHA:2584 |
Congenital Myopathy 14 |
|
Hip contracture, Flexion contracture, Elbow flexion contracture, Increased variability in muscle ... |
OMIM:618414 |
Mehmo Syndrome |
|
Birth length less than 3rd percentile, Hypoglycemia, Delayed puberty |
OMIM:300148 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Reduced subcutaneous adipose tissue, Lipoatrophy, Lipodystrophy, Cachexia, Abnormal hair morpholo... |
ORPHA:1979 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis, Elevated hepatic i... |
OMIM:615234 |
Late-Onset Junctional Epidermolysis Bullosa |
|
Gastrointestinal inflammation, Squamous cell carcinoma, Basal cell carcinoma, Cutaneous melanoma,... |
ORPHA:79406 |
Polyendocrine-Polyneuropathy Syndrome |
|
Short stature, Hypoglycemia, Postnatal growth retardation, Type I diabetes mellitus, Decreased te... |
OMIM:616113 |
Combined Malonic And Methylmalonic Acidemia |
|
Elevated hepatic transaminase, Hypoglycemia |
ORPHA:289504 |
Pparg-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Calf muscle pseudohypertrophy, Lipoatrophy, Congest... |
ORPHA:79083 |
Monosomy 22 |
|
Aplasia of the thymus, Schwannoma, Hypochromic microcytic anemia, Hepatosplenomegaly, Gonadal neo... |
ORPHA:96123 |
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome |
|
Failure to thrive, Severe short stature, Premature ovarian insufficiency, Cataract |
ORPHA:2278 |
Autoinflammatory-Pancytopenia Syndrome |
|
Growth delay, Lipodystrophy |
OMIM:619858 |
Blue Diaper Syndrome |
|
Elevated hepatic transaminase, Recurrent hypoglycemia, Increased proinsulin:insulin ratio |
ORPHA:94086 |
Oculopharyngodistal Myopathy 2 |
|
Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Weakness of... |
OMIM:618940 |
Anauxetic Dysplasia 2 |
|
Thoracolumbar kyphoscoliosis, Ovoid vertebral bodies, Hyperlordosis, Short neck, Posterior wedgin... |
OMIM:617396 |
Myopathy, Sarcoplasmic Body |
|
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Increased variability in mus... |
OMIM:620286 |
Aicardi-Goutieres Syndrome 6 |
|
Splenomegaly, Hemolytic anemia, Thrombocytopenia, Hepatomegaly |
OMIM:615010 |
Deafness-Infertility Syndrome |
|
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... |
OMIM:611102 |
Bethlem Myopathy |
|
Multiple joint contractures, Reduced muscle collagen VI, Limb-girdle muscle weakness, Quadriceps ... |
ORPHA:610 |
Lig4 Syndrome |
|
Recurrent respiratory infections, Pancytopenia, Myelodysplasia, Acute lymphoblastic leukemia, Thr... |
OMIM:606593 |
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism |
|
Telangiectasia of the skin, Lipodystrophy, Dilated cardiomyopathy, Cardiomyopathy, Mitral regurgi... |
OMIM:212112 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatic failure, Hypoglycemia |
ORPHA:156 |
Ddost-Cdg |
|
Lipodystrophy, Short stature |
ORPHA:300536 |
Noonan Syndrome 6 |
|
Juvenile myelomonocytic leukemia |
OMIM:613224 |
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity |
|
Postnatal growth retardation, Intrauterine growth retardation, Abnormality of chromosome stability |
OMIM:600546 |
Mody |
|
Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitus, Hepatocellular adenoma... |
ORPHA:552 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Generalized lipodystr... |
ORPHA:363400 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Male infertility, Abnormal sperm morphology, Immotile sperm |
OMIM:608653 |
Sézary Syndrome |
|
Hepatomegaly, Cutaneous T-cell lymphoma, Abnormal pleura morphology, Abnormal immunoglobulin leve... |
ORPHA:3162 |
Bone Marrow Failure Syndrome 3 |
|
Chromosome breakage, Short stature, Cryptorchidism, Astigmatism, Nail dystrophy, Hernia, Sparse h... |
OMIM:617052 |
Simple Cryoglobulinemia |
|
Abnormality of the gastrointestinal tract, Viral hepatitis, Gastrointestinal hemorrhage, B-cell l... |
ORPHA:91139 |
Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
Immunodeficiency, Common Variable, 1 |
|
Hepatomegaly, Pneumonia, Impaired T cell function, Splenomegaly, Recurrent pneumonia, Neutropenia... |
OMIM:607594 |
C3 Glomerulopathy |
|
Hypertension, Lipodystrophy |
ORPHA:329918 |
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Hip contracture, Short stature, Cachexia, Short neck, Elbow flexion contracture, Knee flexion con... |
ORPHA:371364 |
X-Linked Intellectual Disability, Cabezas Type |
|
Inguinal hernia, Hypoplasia of penis, Short stature, Camptodactyly of finger, Abnormal hair patte... |
ORPHA:85293 |
Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hepatic steatosis |
OMIM:201450 |
2P21 Microdeletion Syndrome |
|
Growth delay, Hypoglycemia |
ORPHA:163693 |
Monocarboxylate Transporter 1 Deficiency |
|
Ketotic hypoglycemia |
OMIM:616095 |
Nijmegen Breakage Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Anal stenosis, Glioma, B-cell lymphoma, Rhabdomyos... |
ORPHA:647 |
Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
Congenital Generalized Lipodystrophy |
|
Lipodystrophy, Congestive heart failure, Adipose tissue loss, Skeletal muscle hypertrophy, Macrog... |
ORPHA:528 |
Congenital Factor Xiii Deficiency |
|
Myeloid leukemia, Hepatic failure, Inflammation of the large intestine |
ORPHA:331 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Recurrent respiratory infections, Diffuse leiomyomatosis, Vulvar neoplasm, Tracheobronchial leiom... |
ORPHA:1018 |
Classic Hodgkin Lymphoma |
|
Hepatomegaly, Splenomegaly, Lymphoma, Lymphadenopathy, Neoplasm, Bone marrow hypocellularity |
ORPHA:391 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Failure to thrive, Cachexia, Weight loss |
OMIM:612075 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Kyphosis, Cataract, Short stature |
ORPHA:85288 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Facial palsy, Hyperlordosis, Cryptorchidism, Flexion contracture, Skeletal muscle hypertrophy, Ma... |
OMIM:613156 |
Christianson Syndrome |
|
Arthrogryposis multiplex congenita, Cachexia, Decreased muscle mass, Thick eyebrow |
ORPHA:85278 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Abnor... |
OMIM:612840 |
Spermatogenic Failure 3 |
|
Male infertility, Reduced sperm motility |
OMIM:606766 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6 |
|
Exercise intolerance, Hyperlordosis, Myopathy, Shoulder girdle muscle weakness, Myalgia, Generali... |
OMIM:615156 |
Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type |
|
Lumbar hyperlordosis, Disproportionate short-trunk short stature, Irregular vertebral endplates, ... |
OMIM:609223 |
Lynch Syndrome 5 |
|
Neoplasm of the pancreas, Endometrial carcinoma, Hereditary nonpolyposis colorectal carcinoma, Ov... |
OMIM:614350 |
Shwachman-Diamond Syndrome |
|
Normocytic anemia, Transient neutropenia, Aplastic anemia, Leukopenia, Neutropenia, Pancreatic hy... |
ORPHA:811 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... |
OMIM:266200 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Type I diabetes mellitus, Intrauterine growth retardation, Hyperglycemia, Diabetes mellitus |
OMIM:606176 |
Nathalie Syndrome |
|
Growth delay, Abnormal EKG, Cataract, Skeletal muscle atrophy |
OMIM:255990 |
Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Elevated hepatic transaminase, Myelodysplasia... |
OMIM:260400 |
Alexander Disease Type I |
|
Cachexia, Failure to thrive, Scoliosis |
ORPHA:363717 |
Colorectal Cancer, Susceptibility To, 10 |
|
Endometrial carcinoma, Colorectal polyposis, Hereditary nonpolyposis colorectal carcinoma |
OMIM:612591 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Ketotic hypoglycemia |
ORPHA:79159 |
Sweet Syndrome |
|
Acute myeloid leukemia, Neutrophilia, Hematological neoplasm, Leukocytosis, Breast carcinoma, Chr... |
ORPHA:3243 |
Portal Hypertension, Noncirrhotic, 1 |
|
Splenomegaly, Portal hypertension, Hepatomegaly |
OMIM:617068 |
Typical Nemaline Myopathy |
|
Facial palsy, Hyperlordosis, Short neck, Kyphosis, Spinal rigidity, Flexion contracture, Limb-gir... |
ORPHA:171436 |
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication |
|
Postnatal growth retardation, Short stature, Hypoglycemia |
ORPHA:231137 |
Classic Galactosemia |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... |
ORPHA:79239 |
Osteopetrosis, Autosomal Recessive 8 |
|
Splenomegaly, Thrombocytopenia, Anemia, Hepatomegaly |
OMIM:615085 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Anisocytosis, S... |
OMIM:224120 |
Tibial Muscular Dystrophy |
|
Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ... |
ORPHA:609 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Hip contracture, Inguinal hernia, Kyphoscoliosis, Hyperlordosis, Obesity, Irregular vertebral end... |
OMIM:618363 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Decreased muscle mass, Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Cachexia, R... |
ORPHA:298 |
Rhabdomyolysis, Susceptibility To, 1 |
|
Exercise intolerance, Centrally nucleated skeletal muscle fibers, Rhabdomyolysis, Type 2 muscle f... |
OMIM:620235 |
Spermatogenic Failure 5 |
|
Male infertility, Multiflagellar spermatozoa, Macrozoospermia |
OMIM:243060 |
Fraxf Syndrome |
|
Folate-dependent fragile site at Xq28 |
ORPHA:100974 |
Riboflavin Deficiency |
|
Hypoglycemia |
OMIM:615026 |
Spermatogenic Failure 77 |
|
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia |
OMIM:620103 |
Self-Improving Dystrophic Epidermolysis Bullosa |
|
Gastrointestinal inflammation, Squamous cell carcinoma, Basal cell carcinoma, Cutaneous melanoma,... |
ORPHA:79411 |
Oocyte/Zygote/Embryo Maturation Arrest 17 |
|
Female infertility, Amenorrhea |
OMIM:620319 |
Oocyte/Zygote/Embryo Maturation Arrest 20 |
|
Female infertility, Amenorrhea |
OMIM:620383 |
Fanconi Anemia, Complementation Group E |
|
Hypergonadotropic hypogonadism, Short stature, Small for gestational age, Cryptorchidism, Prolong... |
OMIM:600901 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Leukemia, Myelodysplasia |
OMIM:619951 |
Neuropathy, Congenital, With Arthrogryposis Multiplex |
|
Arthrogryposis multiplex congenita, Distal amyotrophy, Hyperlordosis |
OMIM:162370 |
Common Variable Immunodeficiency |
|
Elevated hepatic transaminase, Hemolytic anemia, Recurrent respiratory infections, Pneumonia, Rec... |
ORPHA:1572 |
Pyruvate Dehydrogenase E3 Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatic failure, Hypoglycemia |
ORPHA:2394 |
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
|
Camptodactyly of finger, Ankle flexion contracture, Spinal rigidity, Centrally nucleated skeletal... |
OMIM:617072 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Vertebral fusion, Hyperlordosis, Kyphosis, Achilles tendon contracture, Macroglossia, Calf muscle... |
OMIM:607155 |
X-Linked Sideroblastic Anemia |
|
Splenomegaly, Anemia |
ORPHA:75563 |
Congenital Short Bowel Syndrome |
|
Lipoatrophy, Short stature |
ORPHA:2301 |
Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Cataract, Short stature, Hypogonadotropic hypogonadism, Hyperlordosis, Cryptorchidism, Low poster... |
ORPHA:1387 |
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay |
|
Recurrent hypoglycemia |
OMIM:618158 |
Distal Myopathy, Tateyama Type |
|
Calf muscle pseudohypertrophy, Increased variability in muscle fiber diameter, Intrinsic hand mus... |
ORPHA:488650 |
Immunodeficiency 42 |
|
Splenomegaly, Hypoplasia of the thymus, Hepatomegaly |
OMIM:616622 |
Silver-Russell Syndrome 2 |
|
Intrauterine growth retardation, Short stature, Neonatal hypoglycemia |
OMIM:618905 |
Fragile X Syndrome |
|
Macroorchidism, Folate-dependent fragile site at Xq28 |
ORPHA:908 |
Hemochromatosis, Type 2B |
|
Hepatomegaly, Splenomegaly, Hepatic fibrosis, Cirrhosis, Anemia |
OMIM:613313 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Intrauterine growth retardation, Short stature, Hypoglycemia |
ORPHA:48431 |
Multicentric Reticulohistiocytosis |
|
Cachexia |
ORPHA:139436 |
Fanconi Anemia, Complementation Group I |
|
Short stature, Short neck, Fused cervical vertebrae, Astigmatism, Decreased body weight, Intraute... |
OMIM:609053 |
Hsd10 Mitochondrial Disease |
|
Hypoglycemia, Abnormal mitochondrial morphology |
OMIM:300438 |
Tubular Aggregate Myopathy |
|
Centrally nucleated skeletal muscle fibers, Muscle fiber tubular inclusions, Type 2 muscle fiber ... |
ORPHA:2593 |
Horizontal Gaze Palsy With Progressive Scoliosis |
|
Kyphosis, Scoliosis, Short neck |
ORPHA:2744 |
Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... |
ORPHA:3202 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:245400 |
Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Scapular winging, Quadriceps muscle weakness, Achilles tendon contracture, Increased variability ... |
OMIM:603689 |
Autoimmune Lymphoproliferative Syndrome |
|
Hepatocellular carcinoma, Increased circulating IgG level, Colitis, Thyroid carcinoma, Lymphocyto... |
ORPHA:3261 |
Glut1 Deficiency Syndrome 2 |
|
Splenomegaly, Hemolytic anemia, Reticulocytosis |
OMIM:612126 |
Neurofibromatosis, Type I |
|
Astrocytoma, Rhabdomyosarcoma, Neurofibroma, Optic nerve glioma, Pheochromocytoma, Meningioma, Pl... |
OMIM:162200 |
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Reduced subcutaneous adipose tissue, Decreased muscle mass, Lumbar hyperlordosis, Thoracolumbar s... |
ORPHA:3041 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Acute hepatic failure, Elevated hepatic transaminase, Hypoglycemia, Growth delay, Hyperglycemia |
OMIM:615453 |
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Lumbar hyperlordosis, Short stature, Kyphosis, Obesity, Scoliosis |
OMIM:616756 |
Insulin-Like Growth Factor I, Resistance To |
|
Reduced subcutaneous adipose tissue, Rieger anomaly, Severe short stature, Lipodystrophy, Short s... |
OMIM:270450 |
Tatton-Brown-Rahman Syndrome |
|
Myeloid leukemia, Neuroendocrine neoplasm |
ORPHA:404443 |
Polyendocrine-Polyneuropathy Syndrome |
|
Decreased testicular size, Hypoglycemia, Postnatal growth retardation, Type II diabetes mellitus,... |
ORPHA:453533 |
Ullrich Congenital Muscular Dystrophy 2 |
|
Facial palsy, Kyphoscoliosis, Flexion contracture, Increased variability in muscle fiber diameter... |
OMIM:616470 |
De Barsy Syndrome |
|
Inguinal hernia, Cataract, Short stature, Lipodystrophy, Kyphoscoliosis, Corneal opacity, Postnat... |
ORPHA:2962 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
Absence Deformity Of Leg-Cataract Syndrome |
|
Cataract, Scoliosis, Hyperlordosis |
ORPHA:2310 |
Hypertriglyceridemia, Transient Infantile |
|
Splenomegaly, Hepatic fibrosis, Hepatic steatosis, Hepatomegaly |
OMIM:614480 |
Carnitine Palmitoyltransferase I Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... |
OMIM:255120 |
Spermatogenic Failure 44 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:619044 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Stomatocytosis, Increase... |
OMIM:185000 |
Spermatogenic Failure 21 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
Spermatogenic Failure 16 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Splenomegaly, Spherocytosis |
ORPHA:66518 |
Cronkhite-Canada Syndrome |
|
Alopecia, Cataract, Cachexia, Dystrophic toenail, Patchy alopecia, Dystrophic fingernails, Sparse... |
ORPHA:2930 |
Brachyolmia Type 1, Hobaek Type |
|
Back pain, Short neck, Kyphosis, Disproportionate short-trunk short stature, Squared-off platyspo... |
OMIM:271530 |
Schwartz-Jampel Syndrome |
|
Skeletal muscle atrophy, Short neck, Low anterior hairline, Microcornea, Wrist flexion contractur... |
ORPHA:800 |
Proteus Syndrome |
|
Splenomegaly, Multiple lipomas, Lipoma, Lymphangioma, Hemangioma |
OMIM:176920 |
Splenoportal Vascular Anomalies |
|
Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites |
OMIM:271500 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Reduced subcutaneous adipose tissue, Scapular winging, Lipoatrophy, Ectopia lentis, Kyphosis, Abs... |
OMIM:616914 |
Schwartz-Jampel Syndrome, Type 1 |
|
Skeletal muscle atrophy, Cervical kyphosis, Short neck, Quadriceps muscle weakness, Microcornea, ... |
OMIM:255800 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Short stature, Hypoglycemia, Postnatal growth retardation, Insulin resistance, Severe postnatal g... |
ORPHA:73272 |
Schopf-Schulz-Passarge Syndrome |
|
Basal cell carcinoma, Poroma, Apocrine hidrocystoma, Squamous cell carcinoma |
OMIM:224750 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Skeletal muscle atrophy, Short stature, Generalized hirsutism, Cachexia |
ORPHA:1933 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
Neurofibromatosis Type 1 |
|
Astrocytoma, Chronic myelogenous leukemia, Multiple lipomas, Neoplasm, Pheochromocytoma, Meningio... |
ORPHA:636 |
2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia |
OMIM:610006 |
Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, A... |
OMIM:601859 |
Amyotrophic Lateral Sclerosis 27, Juvenile |
|
Scapular winging, Quadriceps muscle atrophy, Hyperlordosis, Angulated muscle fibers, Intrinsic ha... |
OMIM:620285 |
Scapuloperoneal Spinal Muscular Atrophy |
|
Scapular winging, Progressive distal muscular atrophy, Torticollis, Facial palsy, Peroneal muscle... |
OMIM:181405 |
Rhabdomyosarcoma, Embryonal, 2 |
|
Ovarian thecoma, Nephroblastoma, Embryonal rhabdomyosarcoma, Pleuropulmonary blastoma |
OMIM:180295 |
Glucocorticoid Deficiency 2 |
|
Recurrent hypoglycemia |
OMIM:607398 |
Pyruvate Carboxylase Deficiency |
|
Hepatomegaly, Hypoglycemia |
OMIM:266150 |
Rothmund-Thomson Syndrome Type 1 |
|
Aplastic anemia, Myelodysplasia, Functional abnormality of the gastrointestinal tract, Squamous c... |
ORPHA:221008 |
Rothmund-Thomson Syndrome Type 2 |
|
Aplastic anemia, Myelodysplasia, Lymphoma, Cleft palate, Squamous cell carcinoma, Functional abno... |
ORPHA:221016 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Arthralgia, Lipodystrophy |
OMIM:618048 |
Congenital Isolated Acth Deficiency |
|
Neonatal hypoglycemia, Hepatitis, Hypoglycemic seizures, Prolonged neonatal jaundice |
ORPHA:199296 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hyperinsulinemia, Elevated circulating alkaline phos... |
ORPHA:263455 |
Martsolf Syndrome 2 |
|
Cataract, Short stature, Hypogonadotropic hypogonadism, Camptodactyly of finger, Developmental ca... |
OMIM:619420 |
Juvenile Xanthogranuloma |
|
Myeloproliferative disorder |
ORPHA:158000 |
Immunodeficiency 60 And Autoimmunity |
|
Recurrent sinopulmonary infections, Pancytopenia, Splenomegaly, Bronchiectasis, Ulcerative coliti... |
OMIM:618394 |
Lambert-Eaton Myasthenic Syndrome |
|
Small cell lung carcinoma, Xerostomia |
ORPHA:43393 |
Lymphedema-Distichiasis Syndrome |
|
Fibrosarcoma, Abnormality of the pulmonary vasculature, Cleft palate |
ORPHA:33001 |
Neonatal Severe Primary Hyperparathyroidism |
|
Splenomegaly, Hepatomegaly |
ORPHA:417 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Aplastic anemia, Splenomegaly, Hepa... |
OMIM:300635 |
Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
Spermatogenic Failure 31 |
|
Male infertility, Acephalic spermatozoa |
OMIM:618112 |
Spermatogenic Failure 26 |
|
Male infertility, Acephalic spermatozoa |
OMIM:617961 |
Ane Syndrome |
|
Multiple joint contractures, Lipoatrophy, Short stature, Kyphoscoliosis, Generalized amyotrophy, ... |
ORPHA:157954 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Short stature, Small for gestational age, Kyphoscoliosis, Hyperlordosis, Cryptorchidism, Increase... |
OMIM:616817 |
Galactose Epimerase Deficiency |
|
Splenomegaly, Jaundice, Hepatomegaly |
ORPHA:79238 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Neonatal death |
OMIM:273680 |
Erythrokeratodermia Variabilis |
|
Alopecia, Cataract, Short stature, Corneal opacity, Abnormal hair morphology, Weight loss, Abnorm... |
ORPHA:317 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Intrauterine growth retardation, Hypoglycemia, Decreased liver function |
OMIM:618835 |
Rothmund-Thomson Syndrome |
|
Aplastic anemia, Myelodysplasia, Squamous cell carcinoma, Melanoma, Basal cell carcinoma, Neoplas... |
ORPHA:2909 |
Down Syndrome |
|
Aganglionic megacolon, Protruding tongue, Abnormality of the lymphatic system, Narrow palate, Mac... |
ORPHA:870 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Intrauterine growth retardation, Hypoglycemia, Decreased liver function |
OMIM:618839 |
Congenital Myopathy 18 |
|
Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Scoliosis, Incr... |
OMIM:620246 |
Poems Syndrome |
|
Fatigue, Pain, Lipodystrophy, Lymphoproliferative disorder, Pulmonary arterial hypertension, Hema... |
ORPHA:2905 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Short stature, Hypoglycemia |
OMIM:618120 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... |
OMIM:194380 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Laryngeal carcinoma, Carcinoma |
OMIM:610644 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Abnormal lactate dehydrogenase level, ... |
ORPHA:42 |
Beta-Thalassemia |
|
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Hepatitis, Anemia, Cholelithi... |
ORPHA:848 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi... |
OMIM:616278 |
Pseudodiastrophic Dysplasia |
|
Lumbar hyperlordosis, Short neck, Hypoplasia of the odontoid process, Platyspondyly, Scoliosis, C... |
OMIM:264180 |
Tetrasomy 12P |
|
Short stature, Cachexia, Short neck, Sparse eyebrow, Sparse hair |
ORPHA:884 |
Oculopharyngodistal Myopathy 3 |
|
Internally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Dist... |
OMIM:619473 |
Three M Syndrome 1 |
|
Scapular winging, Short stature, Small for gestational age, Hypospadias, Short neck, Postnatal gr... |
OMIM:273750 |
Cutis Laxa, Autosomal Recessive, Type Iia |
|
Intrauterine growth retardation, Inguinal hernia, Lipodystrophy, Scoliosis |
OMIM:219200 |
Scleroderma, Familial Progressive |
|
Calcinosis, Chromosome breakage, Abnormality of chromosome stability |
OMIM:181750 |
Oral Submucous Fibrosis |
|
Oropharyngeal squamous cell carcinoma |
ORPHA:357154 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Intrauterine growth retardation, Hypoglycemia |
OMIM:618838 |
Chromosome 17Q11.2 Deletion Syndrome, 1.4-Mb |
|
Neurofibroma, Plexiform neurofibroma, Lisch nodules, Neurofibrosarcoma, Subcutaneous neurofibroma... |
OMIM:613675 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Distal lower limb amyotrophy, Kyphosis, Distal upper limb amyotrophy, Scoliosis |
ORPHA:101075 |
Cowden Syndrome |
|
Hamartomatous polyposis, Neoplasm of the central nervous system, Neoplasm, High palate, Papilloma... |
ORPHA:201 |
Hereditary Leiomyomatosis And Renal Cell Cancer |
|
Cutaneous leiomyosarcoma, Multiple cutaneous leiomyomas, Uterine leiomyoma, Uterine leiomyosarcom... |
OMIM:150800 |
Dyskeratosis Congenita, X-Linked |
|
Acute myeloid leukemia, Oropharyngeal squamous cell carcinoma, Pancytopenia, Myelodysplasia, Thro... |
OMIM:305000 |
Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Intrauterine growth retardation, Lipoatrophy |
ORPHA:261304 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Decreased circulating IgG level, Hepatomegaly, Autoimmune hemolytic anemia, Atrophic gastritis, A... |
OMIM:616100 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Facial palsy, Myopathy, Type 1 fibers relatively smaller than type 2 fibers, Decreased body weigh... |
OMIM:300580 |
Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig... |
OMIM:619802 |
Gamma-Heavy Chain Disease |
|
Hepatomegaly, Autoimmune hemolytic anemia, Recurrent respiratory infections, Autoimmune thrombocy... |
ORPHA:100026 |
Fetal Akinesia Deformation Sequence 4 |
|
Skeletal muscle atrophy, Short neck, Cryptorchidism, Kyphosis, Camptodactyly, Arthrogryposis mult... |
OMIM:618393 |
Fucosidosis |
|
Decreased muscle mass, Lipoatrophy, Corneal opacity, Kyphosis, Anterior beaking of lumbar vertebrae |
ORPHA:349 |
Myopathy, Distal, Tateyama Type |
|
Hand muscle weakness, Centrally nucleated skeletal muscle fibers, Intrinsic hand muscle atrophy, ... |
OMIM:614321 |
Spondyloepimetaphyseal Dysplasia, Handigodu Type |
|
Hip contracture, Lumbar hyperlordosis, Abnormal intervertebral disk morphology, Platyspondyly, Ab... |
ORPHA:99642 |
Cholestasis-Lymphedema Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormali... |
ORPHA:1414 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, Lymphadenopathy, B lymphocyt... |
OMIM:150550 |
Multiple Endocrine Neoplasia Type 4 |
|
Angiofibromas, Pituitary corticotropic cell adenoma, Zollinger-Ellison syndrome, Pituitary prolac... |
ORPHA:276152 |
Masa Syndrome |
|
Kyphosis, Short stature, Hyperlordosis |
OMIM:303350 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hypertension, Lipodystrophy |
OMIM:615238 |
Mandibuloacral Dysplasia |
|
Loss of subcutaneous adipose tissue in limbs, Lipoatrophy, Increased subcutaneous truncal adipose... |
ORPHA:2457 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Cataract, Hyperlordosis, Fatty replacement of skeletal muscle, Hip pain, Abnormality of the verte... |
ORPHA:52430 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Embryonal rhabdomyosarcoma, Cleft palate, Leukemia, Nephroblastoma, Duodenal atresia |
OMIM:257300 |
Radial-Renal Syndrome |
|
Chromosome breakage, Short stature |
OMIM:179280 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Generalized lymphadenopathy, Villous atrophy, Inflammation of the large intes... |
OMIM:614700 |
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
|
Congenital muscular dystrophy, Cataract, Hypogonadism |
OMIM:254000 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat... |
OMIM:212140 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Acute hepatic failure, Elevated hepatic transaminase, Proportionate short stature, Fasting hyperi... |
ORPHA:71212 |
Hb Bart'S Hydrops Fetalis |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Hepatomegaly |
ORPHA:163596 |
Gm1-Gangliosidosis, Type Iii |
|
Skeletal muscle atrophy, Short stature, Kyphosis, Platyspondyly, Scoliosis, Anterior beaking of l... |
OMIM:230650 |
Osteopetrosis, Autosomal Recessive 4 |
|
Reticulocytosis, Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia |
OMIM:611490 |
Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Inguinal hernia, Decreased muscle mass, Short stature, Lipodystrophy, Subretinal pigment epitheli... |
ORPHA:357074 |
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome |
|
Splenomegaly, Pancytopenia |
OMIM:614979 |
Wiskott-Aldrich Syndrome |
|
Hemolytic anemia, Recurrent respiratory infections, Abnormal eosinophil morphology, Recurrent int... |
ORPHA:906 |
Immunodeficiency 27A |
|
Splenomegaly, Leukocytosis, Hepatosplenomegaly, Lymphadenopathy, Enlarged mesenteric lymph node, ... |
OMIM:209950 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Prolonged neonatal jaundice,... |
OMIM:300908 |
Metaphyseal Chondrodysplasia, Spahr Type |
|
Disproportionate short stature, Scoliosis, Hyperlordosis |
ORPHA:2501 |
Myofibrillar Myopathy 10 |
|
Ankle flexion contracture, Kyphosis, Elbow flexion contracture, Increased QRS voltage, Knee flexi... |
OMIM:619040 |
Harderoporphyria |
|
Hemolytic anemia, Hepatomegaly, Reticulocytosis, Splenomegaly, Prolonged neonatal jaundice |
OMIM:618892 |
Graft Versus Host Disease |
|
Skeletal muscle atrophy, Tachycardia, Dupuytren contracture, Lipodystrophy, Fasciitis, Myositis, ... |
ORPHA:39812 |
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Fatigue, Skeletal muscle atrophy, Exercise intolerance, Cataract, Achilles tendon contracture, Ra... |
OMIM:615418 |
Mosaic Variegated Aneuploidy Syndrome |
|
Intestinal polyposis, Vaginal neoplasm, Rhabdomyosarcoma, Myelodysplasia, Abnormal lung lobation,... |
ORPHA:1052 |
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
|
Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Increased variability in ... |
ORPHA:34516 |
Pelizaeus-Merzbacher Disease |
|
Short stature, Failure to thrive in infancy, Cachexia, Kyphosis, Scoliosis |
ORPHA:702 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... |
OMIM:613470 |
Lynch Syndrome 4 |
|
Endometrial carcinoma, Hereditary nonpolyposis colorectal carcinoma, Ovarian neoplasm |
OMIM:614337 |
Idiopathic Hypereosinophilic Syndrome |
|
Generalized lymphadenopathy, Cholangitis, Colitis, Neutrophilia, Myelodysplasia, Leukocytosis, He... |
ORPHA:3260 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 11 |
|
Hypoglycemia |
OMIM:620137 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hepatic failure, Hypoglycemia |
OMIM:611126 |
Combined Oxidative Phosphorylation Deficiency 31 |
|
Cataract, Left ventricular noncompaction, Increased intramyocellular lipid droplets, Increased va... |
OMIM:617228 |
Spinocerebellar Ataxia 48 |
|
Cachexia |
OMIM:618093 |
Galactosemia Iii |
|
Splenomegaly, Jaundice, Hepatomegaly |
OMIM:230350 |
Familial Multinodular Goiter |
|
Alveolar rhabdomyosarcoma, Pleuropulmonary blastoma, Pilomatrixoma, Ovarian neoplasm, Basal cell ... |
ORPHA:276399 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Portal hypertension, Micronodular cirr... |
OMIM:251880 |
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities |
|
Failure to thrive in infancy, Short neck, Flexion contracture, Long eyelashes, Scoliosis, Increas... |
OMIM:619026 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Skeletal muscle atrophy, Cachexia, Upper-limb joint contracture, Lower-limb joint contracture, Di... |
ORPHA:300605 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Lipodystrophy, Abdominal pain, Vasculitis, Arthralgia, Panniculitis, Myalgia |
OMIM:617099 |
Congenital Disorder Of Glycosylation, Type It |
|
Elevated hepatic transaminase, Hepatomegaly, Short stature, Hypoglycemia, Elevated circulating as... |
OMIM:614921 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Limb joint contracture, Cachexia, Flexion contracture, Facial diplegia, Arthrogryposis multiplex ... |
OMIM:618186 |
Rett Syndrome |
|
Skeletal muscle atrophy, Short stature, Cachexia, Kyphosis, Scoliosis |
OMIM:312750 |
Immunodeficiency 32B |
|
Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Monocyt... |
OMIM:226990 |
Tuberous Sclerosis 1 |
|
Chordoma, Astrocytoma, Ependymoma, Gingival fibromatosis, Cardiac rhabdomyoma, Renal cell carcino... |
OMIM:191100 |
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Cholestatic liver disease, Hypoglycemia, Hypoketotic hypoglycemia |
ORPHA:5 |
Progeroid Syndrome, Petty Type |
|
Reduced subcutaneous adipose tissue, Short stature, Lipoatrophy, Umbilical hernia, Intrauterine g... |
ORPHA:2963 |
Aicardi-Goutieres Syndrome 4 |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia |
OMIM:610333 |
Primary Myelofibrosis |
|
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Thrombocytopenia, ... |
ORPHA:824 |
Malonyl-Coa Decarboxylase Deficiency |
|
Short stature, Hypoglycemia |
OMIM:248360 |
Centrifugal Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Absence of subcutaneous fat, Lipoatrophy, Lack of facial sub... |
ORPHA:90156 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc |
|
Ragged-red muscle fibers, Lower limb amyotrophy, Upper limb amyotrophy, Upper limb muscle weaknes... |
OMIM:616924 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Calcinosis, Li... |
OMIM:248370 |
Sea-Blue Histiocytosis |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia |
ORPHA:158029 |
Cryptococcosis |
|
Lymphoid leukemia, Pneumonia, Nodular pattern on pulmonary HRCT, Mediastinal lymphadenopathy, Per... |
ORPHA:1546 |
Stiff Skin Syndrome |
|
Hypertension, Short stature, Lipoatrophy |
ORPHA:2833 |
Maturity-Onset Diabetes Of The Young, Type 13 |
|
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Maternal diabetes |
OMIM:616329 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... |
ORPHA:264580 |
Pulmonary Blastoma |
|
Weight loss |
ORPHA:64741 |
Galactokinase Deficiency |
|
Hepatomegaly, Abnormal circulating enzyme concentration or activity, Hypoglycemia, Hyperinsulinem... |
ORPHA:79237 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hepatomegaly, Hemolytic ... |
OMIM:308230 |
Alpha-1-Antitrypsin Deficiency |
|
Elevated hepatic transaminase, Hepatocellular carcinoma, Splenomegaly, Panacinar emphysema, Bronc... |
OMIM:613490 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Sacral dimple, Hypospadias, Hyperlordosis, Kyphosis, Synophrys, Low anterior hairline, Astigmatis... |
OMIM:615761 |
Crisponi/Cold-Induced Sweating Syndrome 2 |
|
Weakness of facial musculature, Lumbar hyperlordosis, Thoracolumbar scoliosis |
OMIM:610313 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 |
|
Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Muscular dystrophy, Increased vari... |
OMIM:608807 |
Ring Chromosome 10 Syndrome |
|
Intrauterine growth retardation, Cachexia, Short neck |
ORPHA:1438 |
Atrial Standstill |
|
Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ... |
ORPHA:1344 |
Mitochondrial Complex I Deficiency, Nuclear Type 19 |
|
Hypoglycemia |
OMIM:618241 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Splenomegaly, Jaundice, Cholestasis, Hepatomegaly |
OMIM:620010 |
Carney Triad |
|
Gastrointestinal hemorrhage, Gastrointestinal stroma tumor, Mediastinal lymphadenopathy, Leiomyos... |
ORPHA:139411 |
H Syndrome |
|
Decreased testicular size, Short stature, Lipodystrophy, Abnormal cardiovascular system physiolog... |
ORPHA:168569 |
Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
Autosomal Recessive Centronuclear Myopathy |
|
Hip contracture, Scapular winging, Facial palsy, Hyperlordosis, Centrally nucleated skeletal musc... |
ORPHA:169186 |
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis |
|
Skeletal muscle atrophy, Alopecia, Cataract, Sparse eyelashes, Sparse eyebrow, Scoliosis, Joint c... |
OMIM:615704 |
Akt2-Related Familial Partial Lipodystrophy |
|
Increased intraabdominal fat, Lipodystrophy |
ORPHA:79085 |
Epidermodysplasia Verruciformis |
|
Verrucae, Squamous cell carcinoma |
ORPHA:302 |
Osteopetrosis, Autosomal Dominant 3 |
|
Splenomegaly, Anemia, Hepatomegaly |
OMIM:618107 |
Post-Traumatic Pituitary Deficiency |
|
Growth delay, Hypoglycemia, Decreased testicular size, Delayed puberty |
ORPHA:95619 |
Mitochondrial Dna Depletion Syndrome 11 |
|
Neuropathic spinal arthropathy, Exercise intolerance, Facial palsy, Spinal rigidity, Kyphosis, Di... |
OMIM:615084 |
Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Pneumonia, Pure red cell aplasia, Autoimmune thrombocytopenia, Impai... |
OMIM:613179 |
Winchester Syndrome |
|
Kyphosis, Corneal opacity |
OMIM:277950 |
Wagr Syndrome |
|
Cataract, Short stature, Cryptorchidism, Obesity, Aplasia/Hypoplasia of the iris, Scoliosis, Ambi... |
ORPHA:893 |
Fanconi Anemia, Complementation Group F |
|
Sacral dimple, Short stature, Cryptorchidism, Microphallus, Intrauterine growth retardation, Fail... |
OMIM:603467 |
Osteomesopyknosis |
|
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:2777 |
Immunodeficiency 7 |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut... |
OMIM:615387 |
Rhabdomyosarcoma, Embryonal, 1 |
|
Embryonal rhabdomyosarcoma |
OMIM:268210 |
Diamond-Blackfan Anemia 12 |
|
Macrocytic anemia, Reticulocytopenia, Normochromic anemia |
OMIM:615550 |
Laron Syndrome |
|
Severe short stature, Hypoglycemia, Delayed puberty |
ORPHA:633 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Short stature, Cachexia |
ORPHA:1389 |
Portal Hypertension, Noncirrhotic, 2 |
|
Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenomegaly, Hepat... |
OMIM:619463 |
Rhabdomyosarcoma 2 |
|
Alveolar rhabdomyosarcoma |
OMIM:268220 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Acute hepatic failure, Hepatomegaly, Short stature, Hypoglycemia, Elevated circulating aspartate ... |
OMIM:256810 |
Ciliary Dyskinesia, Primary, 50 |
|
Male infertility, Reduced progressive sperm motility, Absent inner dynein arms, Coiled sperm flag... |
OMIM:620356 |
Donohue Syndrome |
|
Postnatal growth retardation, Hyperinsulinemia, Cholestasis, Hepatic fibrosis, Fasting hypoglycem... |
OMIM:246200 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Myopathy, Limb-girdle muscular dystrophy, Increased variability in muscle fiber diameter, Rimmed ... |
OMIM:612937 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y |
|
Hand muscle atrophy, Proximal muscle weakness in upper limbs, Scapular winging, Lumbar hyperlordo... |
ORPHA:435387 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... |
ORPHA:79240 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Skeletal muscle atrophy, Myositis, Flexion contracture, Generalized lipodystrophy, Panniculitis |
OMIM:619183 |
Congenital Myopathy 22A, Classic |
|
Fatigue, Hip contracture, Thoracic scoliosis, Scapular winging, Spinal rigidity, Centrally nuclea... |
OMIM:620351 |
Fanconi Anemia, Complementation Group D2 |
|
Pancytopenia, Thrombocytopenia, Esophageal atresia, Annular pancreas, Reticulocytopenia, Tracheoe... |
OMIM:227646 |
Gaucher Disease, Type Iii |
|
Splenomegaly, Pancytopenia, Thrombocytopenia, Hepatomegaly |
OMIM:231000 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Kyphosis, Flexion contracture, Myopathy, Intrauterine growth retardation, Hypertrophic cardiomyop... |
OMIM:618237 |
Intellectual Disability And Myopathy Syndrome |
|
Fatigue, Achilles tendon contracture, Lumbar hyperlordosis, Scoliosis |
OMIM:619719 |
Gastrointestinal Stromal Tumor |
|
Gastrointestinal stroma tumor, Intestinal obstruction, Neurofibroma, Dysphagia |
OMIM:606764 |
Hereditary Elliptocytosis |
|
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma... |
ORPHA:288 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Hypoglycemia |
OMIM:201910 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Elevated hepatic transaminase, Hepatomegaly, Reduced carnitine O-palmitoyltransferase level, Hepa... |
ORPHA:228305 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hepatic steatosis, Neonatal hypoglycemia |
OMIM:212138 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Peptic ulcer, Fibroma, Parathyro... |
ORPHA:99880 |
Familial Multiple Lipomatosis |
|
Odontogenic keratocysts of the jaw, Medulloblastoma, Lipodystrophy, Increased adipose tissue |
ORPHA:199276 |
Pyridoxine-Dependent Epilepsy |
|
Hypoglycemia |
ORPHA:3006 |
Oculopharyngodistal Myopathy |
|
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Abnormality of orbicularis... |
ORPHA:98897 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Decreased circulating IgG level, Hepatomegaly, Recurrent respiratory infections, Splenomegaly, Cl... |
OMIM:620210 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Myositis, Lipodystrophy, Flexion contracture, Panniculitis, Conjunctivitis, Arthralgia |
OMIM:617591 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Splenomegaly, Anemia, Hepatomegaly |
OMIM:620296 |
Cog8-Cdg |
|
Elevated hepatic transaminase, Hypoglycemia |
ORPHA:95428 |
Ck Syndrome |
|
Kyphosis, Slender build, Scoliosis, Hyperlordosis |
OMIM:300831 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Skeletal muscle atrophy, Short neck, Cryptorchidism, Kyphosis, Facial diplegia, Scoliosis, Arthro... |
OMIM:611890 |
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Short neck, Kyphosis, Cryptorchidism, Flexion contracture, Scoliosis, Arthrogryposis multiplex co... |
ORPHA:178148 |
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal amyotrophy, Myopathy, Musc... |
OMIM:612999 |
Ichthyosis, Hystrix-Like, With Deafness |
|
Squamous cell carcinoma |
OMIM:602540 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Gastrointestinal hemorrhage, Hepatomegaly, Elevated hepatic transaminase, Malabsorption, Splenome... |
ORPHA:79301 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... |
ORPHA:348 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Short stature, Kyphosis, Hyp... |
OMIM:609813 |
Leishmaniasis |
|
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Lymphadenopathy, Anemia... |
ORPHA:507 |
Pituitary Stalk Interruption Syndrome |
|
Cryptorchidism, Short stature, Hypoglycemia, Delayed puberty |
ORPHA:95496 |
Cimdag Syndrome |
|
Lipodystrophy, Developmental cataract |
OMIM:619273 |
Parathyroid Carcinoma |
|
Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Peptic ulcer, Fibroma, Uterine l... |
ORPHA:143 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Cataract, Hyperlordosis, Myopathy, Limb-girdle muscular dystrophy, Muscular dystrophy, Myalgia, M... |
ORPHA:369840 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hypoglycemia, Microvesicular hepatic steatosis, Jaundice, Cholesta... |
OMIM:617156 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Skeletal muscle atrophy, Spinal muscular atrophy, Flexion contracture, Increased variability in m... |
OMIM:616867 |
Histidinuria-Renal Tubular Defect Syndrome |
|
Hypoglycemia |
ORPHA:2158 |
Trisomy 18 |
|
Omphalocele, Cataract, Short stature, Camptodactyly of finger, Congenital diaphragmatic hernia, C... |
ORPHA:3380 |
Cold Agglutinin Disease |
|
Splenomegaly, Hemolytic anemia, Lymphadenopathy, Hepatomegaly |
ORPHA:56425 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Neuropathic spinal arthropathy, Exercise intolerance, Decreased mitochondrial number, Spinal rigi... |
ORPHA:352447 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Macroorchidism, Folate-dependent fragile site at Xq28 |
ORPHA:85327 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Iron deficiency anemia, Increased circulating IgG level, Increased B cell count, Decreased lympho... |
OMIM:603909 |
Fanconi Anemia, Complementation Group N |
|
Postnatal growth retardation, Chromosomal breakage induced by crosslinking agents, Short neck |
OMIM:610832 |
Fanconi Anemia, Complementation Group P |
|
Growth delay, Cryptorchidism, Short stature, Chromosomal breakage induced by crosslinking agents |
OMIM:613951 |
Congenital Myopathy 15 |
|
Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Type 1 musc... |
OMIM:620161 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Intrauterine growth retardation, Hypoglycemia |
OMIM:614702 |
Recessive Dystrophic Epidermolysis Bullosa Inversa |
|
Esophageal stricture, Gastrointestinal inflammation, Squamous cell carcinoma, Basal cell carcinom... |
ORPHA:79409 |
Congenital Analbuminemia |
|
Fatigue, Lipodystrophy, Low pulse pressure |
ORPHA:86816 |
Arthrogryposis, Distal, Type 3 |
|
Decreased muscle mass, Lumbar hyperlordosis, Short stature, Thoracolumbar scoliosis, Kyphoscolios... |
OMIM:114300 |
Sialidosis Type 2 |
|
Skeletal muscle atrophy, Inguinal hernia, Short stature, Corneal opacity, Kyphosis, Flexion contr... |
ORPHA:87876 |
Recurrent Respiratory Papillomatosis |
|
Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract infections, Recurrent pn... |
ORPHA:60032 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Cataract, Small for gestational age, Camptodactyly of finger, Kyphoscoliosis, Small scrotum, Deve... |
OMIM:610756 |
Myotonic Dystrophy 2 |
|
Frontal balding, Posterior subcapsular cataract, Iridescent posterior subcapsular cataract, Oligo... |
OMIM:602668 |
Autosomal Dominant Spondylocostal Dysostosis |
|
Severe short stature, Short neck, Hyperlordosis, Abnormal sacrum morphology, Abnormal morphology ... |
ORPHA:1797 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Kyphosis, Short stature, Scoliosis |
OMIM:300434 |
Adrenal Hypoplasia, Congenital |
|
Hypogonadotropic hypogonadism, Precocious puberty, Cryptorchidism, Oligozoospermia, Azoospermia, ... |
OMIM:300200 |
Trim32-Related Limb-Girdle Muscular Dystrophy R8 |
|
Proximal muscle weakness in lower limbs, Myopathy, Increased variability in muscle fiber diameter |
ORPHA:1878 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Diabetes mellitus, Hypoglycemia, Proportionate short stature, Severe postnatal growth retardation... |
ORPHA:391408 |
Spastic Paraplegia 87, Autosomal Recessive |
|
Lumbar hyperlordosis |
OMIM:619966 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Decreased CD4:CD8 ratio |
OMIM:618495 |
Wieacker-Wolff Syndrome |
|
Facial palsy, Hyperlordosis, Short neck, Kyphosis, Congenital foot contractures, Distal amyotroph... |
OMIM:314580 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Increased variability in muscle fiber diameter, Failure to thrive in infancy, Increased intramyoc... |
OMIM:619065 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Kyphosis, Scoliosis, Skeletal muscle atrophy |
ORPHA:101078 |
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Abnormal intervertebral disk morphology, Cataract, Pulmonary embolism, Congestive heart failure, ... |
ORPHA:1345 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Splenomegaly, Jaundice, Cholestasis, Hepatic fibrosis, Hepatic bridging fibrosis |
OMIM:619658 |
Mucolipidosis Iii Gamma |
|
Aortic regurgitation, Short stature, Hyperlordosis, Short neck, Kyphosis, Arthralgia, Scoliosis, ... |
OMIM:252605 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Pancytopenia, Splenomegaly, Hemophagocytosis, Subcutaneous panniculitis-like T-cell lymphoma, Anemia |
OMIM:618398 |
Fanconi-Bickel Syndrome |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Postnatal growth ret... |
OMIM:227810 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Splenomegaly, Ascites, Anemia |
ORPHA:1046 |
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome |
|
Short stature, Fasting hypoglycemia |
ORPHA:436174 |
Acquired Generalized Lipodystrophy |
|
Calf muscle pseudohypertrophy, Astrocytoma, Lymphoma, Abnormal cardiovascular system physiology, ... |
ORPHA:79086 |
Premature Ovarian Failure 6 |
|
Streak ovary, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea, Primary ... |
OMIM:612310 |
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Weakness of facial musculature, Increased endomysial connective tissue, Increased variability in ... |
OMIM:620265 |
Mulchandani-Bhoj-Conlin Syndrome |
|
Severe short stature, Hyperlordosis, Scoliosis, Intrauterine growth retardation, Failure to thrive |
OMIM:617352 |
Fanconi Anemia, Complementation Group R |
|
Growth delay, Chromosomal breakage induced by crosslinking agents, Scoliosis |
OMIM:617244 |
Premature Ovarian Failure 13 |
|
Hypoplasia of the uterus, Oligomenorrhea, Female infertility, Amenorrhea |
OMIM:617442 |
Fanconi Anemia, Complementation Group Q |
|
Growth delay, Chromosome breakage, Short stature |
OMIM:615272 |
17Q11 Microdeletion Syndrome |
|
Multiple mucosal neuromas, Brain neoplasm, Glioma, Cerebellar glioma, Rhabdomyosarcoma, Myelodysp... |
ORPHA:97685 |
Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Cataract, Hypergonadotropic hypogonadism, Short stature, Decreased fertility, Primary amenorrhea,... |
ORPHA:2410 |
Mitochondrial Myopathy And Sideroblastic Anemia |
|
Kyphosis, Generalized limb muscle atrophy, Myopathy, Scoliosis, Delayed puberty |
ORPHA:2598 |
Intellectual Disability-Developmental Delay-Contractures Syndrome |
|
Kyphosis, Distal amyotrophy, Scoliosis, Congenital foot contractures |
ORPHA:3454 |
Fanconi Anemia, Complementation Group L |
|
Chromosome breakage, Hypoplastic sacrum, Short neck, Growth delay, Aplasia of the uterus, Intraut... |
OMIM:614083 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Hemo... |
OMIM:301078 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Flexion contr... |
OMIM:608612 |
Felty Syndrome |
|
Hepatomegaly, Recurrent respiratory infections, Thrombocytopenia, Splenomegaly, Lymphoma, Recurre... |
ORPHA:47612 |
Insulinoma |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemia, Recur... |
ORPHA:97279 |
Hypoadrenocorticism, Familial |
|
Hypoglycemia |
OMIM:240200 |
Borjeson-Forssman-Lehmann Syndrome |
|
Short stature, Kyphosis, Cryptorchidism, Scoliosis, Delayed puberty, Scheuermann-like vertebral c... |
OMIM:301900 |
Lhermitte-Duclos Disease |
|
Fibroadenoma of the breast, Ovarian neoplasm, Macroglossia, Trichilemmoma, Neoplasm of the thyroi... |
ORPHA:65285 |
Omenn Syndrome |
|
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... |
OMIM:603554 |
Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Skeletal muscle atrophy, Dystrophic fingernails, Dystrophic toenail, Hyperlordosis |
ORPHA:970 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Sparse facial hair, Aplasia of the ovary, Aplasia/hypoplasia of the uterus, Alopecia, Streak ovar... |
ORPHA:2232 |
Glycogen Storage Disease Ia |
|
Elevated hepatic transaminase, Hepatomegaly, Short stature, Hypoglycemia, Hepatocellular carcinom... |
OMIM:232200 |
Pituitary Hormone Deficiency, Combined, 6 |
|
Short stature, Neonatal hypoglycemia, Hypoglycemia |
OMIM:613986 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hepatomegaly, Splenomegaly, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia |
ORPHA:79312 |
Mosaic Variegated Aneuploidy Syndrome 4 |
|
Abnormality of chromosome stability |
OMIM:620153 |
Intestinal Dysmotility Syndrome |
|
Failure to thrive, Cataract, Weight loss |
OMIM:620045 |
Glycogen Storage Disease Ixd |
|
Hypoglycemia |
OMIM:300559 |
Dubowitz Syndrome |
|
Aplastic anemia, Velopharyngeal insufficiency, Lymphoma, Submucous cleft hard palate, Acute lymph... |
OMIM:223370 |
Metatropic Dysplasia |
|
Abnormal intervertebral disk morphology, Severe short stature, Camptodactyly of finger, Cataract,... |
ORPHA:2635 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Cryptorchidism, Short stature, Hyperlordosis |
ORPHA:1192 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Splenomegaly, Intrah... |
OMIM:619849 |
Keppen-Lubinsky Syndrome |
|
Decreased testicular size, Lipodystrophy, Postnatal growth retardation, Flexion contracture, Scol... |
ORPHA:435628 |
Ck Syndrome |
|
Slender build, Lumbar hyperlordosis, Asthenia, Kyphoscoliosis |
ORPHA:251383 |
Mitochondrial Trifunctional Protein Deficiency 2 |
|
Elevated circulating alanine aminotransferase concentration, Hypoglycemia, Elevated circulating a... |
OMIM:620300 |
Encephalocraniocutaneous Lipomatosis |
|
Lipodystrophy, Corneal opacity, Neoplasm of the skeletal system, Visceral angiomatosis, Multiple ... |
ORPHA:2396 |
Pituitary Hormone Deficiency, Combined, 2 |
|
Neonatal hypoglycemia, Short stature, Hypoglycemic seizures |
OMIM:262600 |
Familial Anetoderma |
|
Lumbar hyperlordosis |
ORPHA:228277 |
Noonan Syndrome 2 |
|
Leukemia, High palate |
OMIM:605275 |
Familial Renal Glucosuria |
|
Insulin resistance, Moderate postnatal growth retardation, Glycosuria, Hyperglycemia, Abnormal or... |
ORPHA:69076 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Skeletal muscle atrophy, Short stature, Lipodystrophy, Camptodactyly of finger, Congestive heart ... |
OMIM:256040 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Back pain, Lumbar hyperlordosis, Short neck, Postnatal growth retardation, Kyphosis, Disproportio... |
OMIM:313400 |
Propionic Acidemia |
|
Propionyl-CoA carboxylase deficiency, Hepatomegaly, Short stature, Hypoglycemia |
OMIM:606054 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Hepatomegaly, Autoimmune hemolytic anemia, Increased circulating IgA level, Splenomegaly, Hypereo... |
OMIM:617388 |
3Mc Syndrome |
|
Diastasis recti, Highly arched eyebrow, Hyperlordosis, Postnatal growth retardation, Bilateral cr... |
ORPHA:293843 |
Fanconi Anemia, Complementation Group V |
|
Short stature, Chromosomal breakage induced by crosslinking agents |
OMIM:617243 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Hip contracture, Severe short stature, Thoracolumbar scoliosis, Kyphosis, Knee flexion contractur... |
OMIM:313420 |
Tuberculosis |
|
Weight loss |
ORPHA:3389 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Acute pancreatitis, Anal fissure, Abscess, Perianal abscess, Lymphadenitis, Spl... |
OMIM:618935 |
Muscular Dystrophy, Duchenne Type |
|
Calf muscle pseudohypertrophy, Hyperlordosis, Achilles tendon contracture, Flexion contracture, H... |
OMIM:310200 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Postnatal growth retardation, Intrauterine growth retardation, Hypoglycemia, Cryptorchidism |
ORPHA:397590 |
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Exercise intolerance, Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Rhabdo... |
OMIM:620138 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Exocrine pancreatic insuff... |
OMIM:612714 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Neonatal cholestatic liver disease |
OMIM:214900 |
Functioning Gonadotropic Adenoma |
|
Macroorchidism, postpubertal, Decreased female libido, Isosexual precocious puberty, Abnormality ... |
ORPHA:91348 |
Hepatoportal Sclerosis |
|
Portal hypertension, Nodular regenerative hyperplasia of liver, Hypersplenism, Splenomegaly, Port... |
ORPHA:64743 |
Progressive Pseudorheumatoid Arthropathy Of Childhood |
|
Irregularity of vertebral bodies, Thoracolumbar kyphoscoliosis, Hyperlordosis, Vertebral wedging,... |
ORPHA:1159 |
Cockayne Syndrome |
|
Skeletal muscle atrophy, Dry hair, Congenital contracture, Lentiglobus, Cryptorchidism, Contractu... |
ORPHA:191 |
Striatonigral Degeneration, Childhood-Onset |
|
Lumbar hyperlordosis |
OMIM:617054 |
Cardiomyopathy, Dilated, 1X |
|
Calf muscle hypertrophy, Increased variability in muscle fiber diameter |
OMIM:611615 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Camptodactyly of finger, Cachexia |
ORPHA:2774 |
Fibrosis Of Extraocular Muscles, Congenital, 3C |
|
Kyphosis, Congenital fibrosis of extraocular muscles |
OMIM:609384 |
Marinesco-Sjogren Syndrome |
|
Skeletal muscle atrophy, Short stature, Centrally nucleated skeletal muscle fibers, Kyphosis, Fle... |
OMIM:248800 |
Cutis Laxa, Autosomal Recessive, Type Iie |
|
Inguinal hernia, Lumbar hyperlordosis, Ovoid vertebral bodies, Highly arched eyebrow, Long eyelas... |
OMIM:619451 |
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects |
|
Kyphosis, Short stature, Facial myokymia |
OMIM:620007 |
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Thick hair, Increased variability in muscle fiber diameter, Increased muscle glycogen content, My... |
ORPHA:502423 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Splenomegaly, Jaundice, Acholic stools, Portal fibrosis |
OMIM:619868 |
Hypochondroplasia |
|
Hyperlordosis, Spinal canal stenosis, Abnormal form of the vertebral bodies, Scoliosis, Childhood... |
ORPHA:429 |
Houge-Janssens Syndrome 1 |
|
Intrauterine growth retardation, Hypoglycemia |
OMIM:616355 |
Omenn Syndrome |
|
Hepatomegaly, Eosinophilia, Pneumonia, Splenomegaly, Leukocytosis, Lymphoma, Lymphadenopathy, Abn... |
ORPHA:39041 |
Wolman Disease |
|
Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Ascites, Anemia |
ORPHA:75233 |
Amyloidosis, Familial Visceral |
|
Splenomegaly, Cholestasis, Hepatomegaly |
OMIM:105200 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Hepatomegaly, Autoimmune thrombocytopenia, Hypersplenism, Splenomegaly, Abnormal pulmonary inters... |
ORPHA:77293 |
Griscelli Syndrome Type 2 |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropenia |
ORPHA:79477 |
Xeroderma Pigmentosum, Variant Type |
|
Basal cell carcinoma, Cutaneous melanoma, Squamous cell carcinoma |
OMIM:278750 |
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities |
|
Lipodystrophy, Short stature, Limb hypertonia |
OMIM:618922 |
Nephronophthisis 19 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... |
OMIM:616217 |
Oculopharyngodistal Myopathy 4 |
|
Autophagic vacuoles, Fatty replacement of skeletal muscle, Increased variability in muscle fiber ... |
OMIM:619790 |
Hyper-Igd Syndrome |
|
Neutrophilia, Increased circulating IgA level, Lymphadenitis, Leukocytosis, Splenomegaly, Hepatos... |
OMIM:260920 |
Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
Camurati-Engelmann Disease |
|
Skeletal muscle atrophy, Facial palsy, Cachexia, Hyperlordosis, Kyphosis, Abnormal subcutaneous f... |
ORPHA:1328 |
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay |
|
Back pain, Fatigue, Lumbar hyperlordosis, Bilateral camptodactyly, Posterior subcapsular cataract... |
OMIM:619234 |
Arthrogryposis, Distal, Type 5 |
|
Keratoconus, Exercise intolerance, Decreased muscle mass, Short stature, Kyphosis, Keratoglobus, ... |
OMIM:108145 |
Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Hyperlordosis, Scoliosis, Shagreen patch |
ORPHA:2511 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
|
Elevated hepatic transaminase, Intrauterine growth retardation, Hepatic failure, Hypoglycemia |
OMIM:619355 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Wolff-Parkinson-White syndrome, Kyphosis, Congestive heart failure, Myopathy, Scoliosis, Hypertro... |
OMIM:618234 |
Gapo Syndrome |
|
Keratoconus, Alopecia, Short stature, Dysmenorrhea, Sparse eyelashes, Sparse eyebrow, Early baldi... |
ORPHA:2067 |
Hurler-Scheie Syndrome |
|
Aortic regurgitation, Inguinal hernia, Short stature, Camptodactyly of finger, Corneal opacity, T... |
OMIM:607015 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Alopecia, Cataract, Nail dystrophy, Cachexia |
OMIM:175500 |
Aromatase Deficiency |
|
Macroorchidism, postpubertal, Male infertility, Eunuchoid habitus, Hypergonadotropic hypogonadism... |
ORPHA:91 |
Gm1 Gangliosidosis |
|
Inguinal hernia, Corneal opacity, Camptodactyly of finger, Hyperlordosis, Kyphosis, Aplasia/Hypop... |
ORPHA:354 |
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia |
|
Splenomegaly, Juvenile myelomonocytic leukemia, Chylothorax, Hepatosplenomegaly |
OMIM:613563 |
Silver-Russell Syndrome 1 |
|
Intrauterine growth retardation, Testicular seminoma, Fasting hypoglycemia, Hepatocellular carcinoma |
OMIM:180860 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Skeletal muscle atrophy, Hypoplasia of penis, Short stature, Hypogonadotropic hypogonadism, Facia... |
ORPHA:3068 |
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, B-cel... |
OMIM:102700 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Skeletal muscle atrophy, Short stature, Cachexia, Myopathy, Scoliosis, Lipoma, Uterine neoplasm |
ORPHA:109 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Inguinal hernia, Hyperlordosis, Hypoplasia of the odontoid process, Platyspondyly, Scoliosis, C1-... |
OMIM:184250 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Exercise intolerance, Scapular winging, Failure to thrive, Hyperlordosis, Ragged-red muscle fiber... |
OMIM:600462 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Inguinal hernia, Short stature, Kyphosis, Cryptorchidism, Congenital contracture, Joint contractu... |
ORPHA:352490 |
Cardiomyopathy, Dilated, 3B |
|
Increased variability in muscle fiber diameter |
OMIM:302045 |
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome |
|
Increased variability in muscle fiber diameter, Enamel hypoplasia |
OMIM:617915 |
3M Syndrome |
|
Scapular winging, Short stature, Abnormal dental enamel morphology, Hypospadias, Short neck, Hype... |
ORPHA:2616 |
Mucopolysaccharidosis, Type Iva |
|
Inguinal hernia, Ovoid vertebral bodies, Hyperlordosis, Short neck, Grayish enamel, Hypoplasia of... |
OMIM:253000 |
Hereditary Spherocytosis |
|
Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Spleno... |
ORPHA:822 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Scapular winging, Lumbar hyperlordosis, Small for gestational age, Bilateral cryptorchidism, Cryp... |
OMIM:617796 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Proximal muscle weakness in low... |
OMIM:613954 |
Beta-Thalassemia Intermedia |
|
Increased HbA2 hemoglobin, Hepatomegaly, Extramedullary hematopoiesis, Anemia of inadequate produ... |
ORPHA:231222 |
Gaucher Disease, Type I |
|
Hepatomegaly, Pancytopenia, Hypersplenism, Thrombocytopenia, Splenomegaly, Abnormal pulmonary int... |
OMIM:230800 |
Premature Ovarian Failure 20 |
|
Secondary amenorrhea, Female infertility |
OMIM:619938 |
Fanconi Anemia, Complementation Group U |
|
Growth delay, Chromosome breakage, Unilateral facial palsy |
OMIM:617247 |
Carney-Stratakis Syndrome |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Gastrointestinal stroma tumor, Paraganglioma... |
ORPHA:97286 |
Cap Myopathy |
|
Thoracic scoliosis, Lumbar hyperlordosis, Facial palsy, Abnormal muscle fiber morphology, Lower l... |
ORPHA:171881 |
Proprotein Convertase 1/3 Deficiency |
|
Hypoinsulinemia, Reactive hypoglycemia |
OMIM:600955 |
Atypical Werner Syndrome |
|
Skeletal muscle atrophy, Neoplasm of the breast, Renal neoplasm, Short stature, Generalized lipod... |
ORPHA:79474 |
Tuberous Sclerosis Complex |
|
Retinal astrocytic hamartoma, Angiofibromas, Retinal hamartoma, Pancreatic endocrine tumor, Pitui... |
ORPHA:805 |
Acrocapitofemoral Dysplasia |
|
Short stature, Ovoid vertebral bodies, Scoliosis, Hyperlordosis |
ORPHA:63446 |
Idiopathic Bronchiectasis |
|
Cachexia |
ORPHA:60033 |
Satoyoshi Syndrome |
|
Short stature, Hyperlordosis, Abnormal hair morphology, Hypoplasia of the uterus, Sparse or absen... |
ORPHA:3130 |
Sickle Cell Disease |
|
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Jau... |
OMIM:603903 |
Jansen-De Vries Syndrome |
|
Central diaphragmatic hernia, Hyperlordosis |
OMIM:617450 |
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Kyphosis, Short stature, Scoliosis |
ORPHA:276630 |
Oculoskeletodental Syndrome |
|
Hyperlordosis, Developmental cataract, Abnormality of the frontal hairline, Thoracic kyphosis, Sc... |
ORPHA:557003 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Intrauterine growth retardation, Sparse scalp hair, Chromosomal breakage induced by crosslinking ... |
OMIM:620133 |
Mucopolysaccharidosis Type 4 |
|
Corneal opacity, Abnormal dental enamel morphology, Hyperlordosis, Short neck, Grayish enamel, Ky... |
ORPHA:582 |
Spastic Paraplegia 46, Autosomal Recessive |
|
Cataract, Urinary incontinence, Kyphosis, Scoliosis, Limb muscle weakness, Lower limb muscle weak... |
OMIM:614409 |
Sandhoff Disease |
|
Kyphosis, Congestive heart failure |
ORPHA:796 |
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Skeletal muscle atrophy, Thoracic scoliosis, Nemaline bodies, Abnormality of skeletal muscle fibe... |
OMIM:620278 |
Myopathy, Mitochondrial, And Ataxia |
|
Thick hair, Multiple lipomas, Distal amyotrophy, Myalgia, Scoliosis, Increased variability in mus... |
OMIM:617675 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Elevated hepatic transaminase, Hypoglycemia, Bile duct proliferation, Macrovesicular hepatic stea... |
OMIM:618329 |
Hypogonadism-Cataract Syndrome |
|
Male hypogonadism, Cataract, Hypogonadism, Infertility |
OMIM:240950 |
Isolated Congenital Hypoglossia/Aglossia |
|
Weight loss |
ORPHA:141152 |
Fryns-Smeets-Thiry Syndrome |
|
Cachexia, Short stature, Scoliosis |
ORPHA:2058 |
Pyridoxal Phosphate-Responsive Seizures |
|
Hypoglycemia |
ORPHA:79096 |
Laryngotracheoesophageal Cleft Type 4 |
|
Cachexia, Abnormal form of the vertebral bodies |
ORPHA:93941 |
Nestor-Guillermo Progeria Syndrome |
|
Short stature, Lipoatrophy, Flexion contracture, Right bundle branch block, Hypertension, Mitral ... |
OMIM:614008 |
Warburg Micro Syndrome 3 |
|
Decreased muscle mass, Cataract, Small scrotum, Kyphoscoliosis, Postnatal growth retardation, Hyp... |
OMIM:614222 |
Pfapa Syndrome |
|
Hepatomegaly, Malabsorption, Splenomegaly, Recurrent pharyngitis, Lymphadenopathy |
ORPHA:42642 |
Hypotonia-Cystinuria Syndrome |
|
Postnatal growth retardation, Neonatal hypoglycemia |
OMIM:606407 |
Fish-Eye Disease |
|
Splenomegaly, Lymphadenopathy, Hepatomegaly |
ORPHA:79292 |
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome |
|
Hypoglycemia |
OMIM:614739 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15 |
|
Myopathy, Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers |
OMIM:618992 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Pneumonia, Spleno... |
OMIM:602450 |
Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Inguinal hernia, Short stature, Kyphosis, Scoliosis, Umbilical hernia, Arthrogryposis multiplex c... |
OMIM:615834 |
Majeed Syndrome |
|
Failure to thrive, Flexion contracture, Cachexia, Weight loss |
ORPHA:77297 |
Oculogastrointestinal Muscular Dystrophy |
|
Skeletal muscle atrophy, Myopathy, Cachexia |
ORPHA:1876 |
Down Syndrome |
|
Aganglionic megacolon, Protruding tongue, Pulmonary artery stenosis, Partial anomalous pulmonary ... |
OMIM:190685 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Hypoglycosylation of alpha-dystroglycan, Calf muscle pseudohypertrophy, Lumbar hyperlordosis, Cat... |
ORPHA:370959 |
Dubowitz Syndrome |
|
Anal stenosis, Abnormality of neutrophils, Malabsorption, Thrombocytopenia, Rectal prolapse, Lymp... |
ORPHA:235 |
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive |
|
Ankle flexion contracture, Elbow flexion contracture, Increased variability in muscle fiber diame... |
OMIM:619461 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Intrauterine growth retardation, Hypoglycemia |
OMIM:618253 |
Spermatogenic Failure, X-Linked, 7 |
|
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... |
OMIM:301106 |
Congenital Fiber-Type Disproportion Myopathy |
|
Fatigue, Hip contracture, Failure to thrive, Ankle flexion contracture, Hyperlordosis, Kyphoscoli... |
ORPHA:2020 |
Pure Mitochondrial Myopathy |
|
Exercise intolerance, Scapular winging, Lumbar hyperlordosis, Quadriceps muscle weakness, Rhabdom... |
ORPHA:254854 |
Metatropic Dysplasia |
|
Relatively short spine, Severe short stature, Kyphoscoliosis, Hypoplasia of the odontoid process,... |
OMIM:156530 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Hepatomegaly, Short stature, Hypoglycemia, Elevated circulating aspartate aminotransferase concen... |
OMIM:608779 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Skeletal muscle atrophy, Short stature, Cachexia, Kyphosis, Scoliosis |
ORPHA:1969 |
Autoinflammation With Infantile Enterocolitis |
|
Pancytopenia, Splenomegaly, Anemia, Reduced natural killer cell count, Thrombocytopenia |
OMIM:616050 |
Lipodystrophy, Familial Partial, Type 7 |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Orthostatic hy... |
OMIM:606721 |
Cholesteryl Ester Storage Disease |
|
Splenomegaly, Jaundice, Cirrhosis, Hepatomegaly |
ORPHA:75234 |
Alpha-Mannosidosis |
|
Inguinal hernia, Cataract, Corneal opacity, Short neck, Kyphosis, Macroglossia, Scoliosis |
ORPHA:61 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Male infertility, Spermatocele, Obstructive azoospermia |
OMIM:301060 |
Sialidosis Type 1 |
|
Skeletal muscle atrophy, Cataract, Short stature, Corneal opacity, Kyphosis, Abnormal form of the... |
ORPHA:812 |
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Mild short stature, Lumbar hyperlordosis, Scoliosis |
OMIM:618167 |
Low Phospholipid-Associated Cholelithiasis |
|
Elevated hepatic transaminase, Diabetes mellitus, Liver abscess, Cholangitis, Intrahepatic choles... |
ORPHA:69663 |
Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Spontaneous esophageal perforation, Esophageal stricture, Squamous cell carcinoma, Abnormal esoph... |
OMIM:226600 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Abnormal circulating enzyme co... |
ORPHA:79303 |
Cowden Syndrome 6 |
|
Colonic diverticula, Fibroadenoma of the breast, Breast carcinoma, Furrowed tongue, Hamartomatous... |
OMIM:615109 |
Estrogen Resistance |
|
Impaired glucose tolerance, Elevated alkaline phosphatase of bone origin, Hyperinsulinemia, Gluco... |
OMIM:615363 |
Sjögren-Larsson Syndrome |
|
Short stature, Abnormal dental enamel morphology, Kyphosis, Corneal erosion, Scoliosis |
ORPHA:816 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hemolytic anemia, Hepatomegaly, Pneumonia, Splenomegaly, Lymphadenopathy, Neoplasm, Thrombocytopenia |
ORPHA:169090 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Exercise intolerance, Skeletal muscle atrophy, Facial palsy, Ragged-red muscle fibers, Increased ... |
OMIM:258450 |
Fanconi Anemia, Complementation Group B |
|
Abnormality of chromosome stability, Hypergonadotropic hypogonadism, Short neck, Growth delay, Hy... |
OMIM:300514 |
Idiopathic Achalasia |
|
Weight loss |
ORPHA:930 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Torticollis, Multiple joint contractures, Facial palsy, Hyperlordosis, Kyphosis, Scoliosis |
OMIM:128100 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Hepatomegaly, Hypoglycemia |
OMIM:229700 |
Joubert Syndrome 37 |
|
Lumbar hyperlordosis, Short stature, Cryptorchidism, Obesity, Sparse hair, Micropenis, Decreased ... |
OMIM:619185 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Exercise intolerance, Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Limb-g... |
OMIM:616812 |
Microphthalmia, Lenz Type |
|
Cataract, Short stature, Camptodactyly of finger, Hypospadias, Hyperlordosis, Cryptorchidism, Kyp... |
ORPHA:568 |
Megalocornea |
|
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... |
OMIM:309300 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Splenomegaly, Leukocytosis, Lymphadenopathy |
OMIM:611762 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Acute hepatic steatosis, Hypoglycemia |
OMIM:210200 |
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type |
|
Lumbar hyperlordosis, Short stature, Disproportionate short-limb short stature |
ORPHA:156728 |
Three M Syndrome 3 |
|
Short stature, Small for gestational age, Hyperlordosis, Short neck, Increased vertebral height, ... |
OMIM:614205 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Cryptorchidism, Hypoglycemia |
OMIM:614736 |
Bruck Syndrome 1 |
|
Hip contracture, Short stature, Ankle flexion contracture, Kyphosis, Elbow flexion contracture, V... |
OMIM:259450 |
Spermatogenic Failure 15 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:616950 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Increased variability in muscle fiber diameter, Failure to thrive |
OMIM:614096 |
Congenital Bilateral Absence Of Vas Deferens |
|
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia |
ORPHA:48 |
Heart Defects-Limb Shortening Syndrome |
|
Kyphosis, Disproportionate short stature, Abnormal form of the vertebral bodies, Mesomelic/rhizom... |
ORPHA:1354 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Intrauterine growth retardation, Hypoglycemia |
OMIM:617710 |
Dpagt1-Cdg |
|
Prolonged QT interval, Lipodystrophy, Flexion contracture, Developmental cataract, Intracranial h... |
ORPHA:86309 |
Hsd10 Disease, Infantile Type |
|
Abnormal circulating enzyme concentration or activity, Hypoglycemia |
ORPHA:391428 |
Seckel Syndrome |
|
Sparse scalp hair, Short stature, Abnormal dental enamel morphology, Cachexia, Scoliosis, Intraut... |
ORPHA:808 |
Glucocorticoid Resistance, Generalized |
|
Hypoglycemia |
OMIM:615962 |
47,Xyy Syndrome |
|
Male infertility, Hypospadias, Cryptorchidism, Oligozoospermia, Azoospermia, Macroorchidism, Micr... |
ORPHA:8 |
D-Glyceric Aciduria |
|
Growth delay, Reduced hepatic D-glycerate kinase activity, Hypoglycemia |
OMIM:220120 |
Cdkl5-Deficiency Disorder |
|
Growth delay, Kyphosis, Scoliosis |
ORPHA:505652 |
Facioscapulohumeral Dystrophy |
|
Abnormal eyelash morphology, Skeletal muscle atrophy, Hyperlordosis |
ORPHA:269 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Malignant gastrointestinal tract tumors, Pancreatic adenocarcinoma, Neoplasm of the stomach, Panc... |
ORPHA:99889 |
Chronic Hiccup |
|
Abnormality of the diaphragm, Weight loss |
ORPHA:396 |
Premature Aging Syndrome, Penttinen Type |
|
Lipoatrophy, Corneal opacity, Corneal stromal edema, Scoliosis, Keloids, Joint contracture, Flexi... |
OMIM:601812 |
Alg9-Cdg |
|
Omphalocele, Torticollis, Tricuspid regurgitation, Lipodystrophy, Rhizomelia, Hypoplasia of the m... |
ORPHA:79328 |
Hypomelanosis Of Ito |
|
Kyphosis, Cataract, Iris coloboma, Scoliosis |
OMIM:300337 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Fasting hypoglycemia, Hepatic failure, Hypoketotic h... |
ORPHA:159 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Elevated hepatic transaminase, Elevated circulating aspartate aminotransferase concentration, Cho... |
OMIM:609015 |
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diameter, Prox... |
OMIM:614302 |
Pseudoachondroplasia |
|
Lumbar hyperlordosis, Hypoplasia of the odontoid process, Abnormal form of the vertebral bodies, ... |
ORPHA:750 |
Myotonia Permanens |
|
Hyperlordosis, Generalized muscle hypertrophy, Skeletal muscle hypertrophy, Chest pain, Myalgia |
ORPHA:99735 |
Insulin-Resistance Syndrome Type B |
|
Insulin resistance, Fasting hyperinsulinemia, Insulin-resistant diabetes mellitus, Hyperinsulinem... |
ORPHA:2298 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Cataract, Spinal rigidity, Peters anomaly, Skeletal muscle hypertrophy, Macroglossia, Congenital ... |
OMIM:613150 |
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Increased variability in muscle fiber diameter, Failure to thrive |
OMIM:613752 |
Solitary Fibrous Tumor |
|
Neoplasm of the liver, Recurrent hypoglycemia, Hypoglycemia, Hypoinsulinemia |
ORPHA:2126 |
Fetal Gaucher Disease |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, Thrombocytopenia |
ORPHA:85212 |
Isolated Succinate-Coq Reductase Deficiency |
|
Skeletal muscle atrophy, Severe short stature, Proportionate short stature, Weight loss, Knee fle... |
ORPHA:3208 |
Glutaric Acidemia I |
|
Reduced peroxisomal glutaryl-CoA oxidase activity, Hepatomegaly, Hypoglycemia |
OMIM:231670 |
Atelosteogenesis, Type Ii |
|
Lumbar hyperlordosis, Cervical kyphosis, Short neck, Increased intervertebral space, Coronal clef... |
OMIM:256050 |
Desbuquois Dysplasia 1 |
|
Severe short stature, Short neck, Hyperlordosis, Kyphosis, Developmental glaucoma, Obesity, Growt... |
OMIM:251450 |
Whipple Disease |
|
Cachexia, Myositis, Erectile dysfunction |
ORPHA:3452 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Lipoatrophy, Telangiectasia of the skin, Hydrocele testis, Multiple lipomas, Scoliosis, Nephrobla... |
ORPHA:276280 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Myopathy, Increased variability in muscle fiber diameter, Cryptorchidism |
OMIM:616816 |
Zimmermann-Laband Syndrome 3 |
|
Kyphosis, Flexion contracture |
OMIM:618658 |
Marfan Syndrome |
|
Skeletal muscle atrophy, Inguinal hernia, Flat cornea, Cachexia, Lens luxation, Ectopia lentis, K... |
ORPHA:558 |
Ellis Van Creveld Syndrome |
|
Aplasia/Hypoplasia of the lungs, Emphysema, Acute leukemia |
ORPHA:289 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hypoglycemia, Jaundice, Glycosuria, Hepatic periportal necrosis, Hepatic steatosis |
OMIM:231680 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Atrophic scars, Sc... |
OMIM:130060 |
Neonatal Lupus Erythematosus |
|
Hemolytic anemia, Pancytopenia, Hepatomegaly, Aplastic anemia, Splenomegaly, Cholestasis, Anemia,... |
ORPHA:398124 |
Transcobalamin Deficiency |
|
Abnormality of chromosome stability |
ORPHA:859 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Recurrent hypoglycemia, Neonatal hypoglycemia, Hyperinsulinemic hypoglycemia |
ORPHA:79644 |
Multiple Endocrine Neoplasia Type 1 |
|
Angiofibromas, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancrea... |
ORPHA:652 |
Smith-Kingsmore Syndrome |
|
Cryptorchidism, Rhizomelia, Hypoglycemia |
OMIM:616638 |
Thoracomelic Dysplasia |
|
Hyperlordosis, Disproportionate short-limb short stature, Low posterior hairline, Short neck |
ORPHA:1803 |
Hereditary Bullous Dystrophy, Macular Type |
|
Alopecia, Cataract, Short stature, Corneal opacity, Congenital abnormal hair pattern, External ge... |
ORPHA:1867 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Nonketotic hypoglycemia, Acute hepatic failure, Elevated hepatic transaminase, Increased circulat... |
ORPHA:99901 |
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome |
|
Inguinal hernia, Hyperlordosis, Short neck, Abnormal form of the vertebral bodies, Umbilical hernia |
ORPHA:3218 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Bone-marrow foam cells, Portal hypertension, Hypersplenism, Thrombocytopenia, Splen... |
OMIM:278000 |
Griscelli Syndrome |
|
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Leu... |
ORPHA:381 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Myositis, Absent muscle fiber merosin, Facial palsy, Hyperlordosis, Increased connective tissue, ... |
ORPHA:258 |
Mucopolysaccharidosis, Type Ivb |
|
Inguinal hernia, Corneal opacity, Ovoid vertebral bodies, Hyperlordosis, Grayish enamel, Hypoplas... |
OMIM:253010 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammation, Portal fibro... |
OMIM:602347 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Short stature, Hypospadias, Hyperlordosis, Short neck, Kyphosis, Fused cervical vertebrae |
ORPHA:2522 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Nonketotic hypoglycemia, Hepatomegaly, Elevated hepatic transaminase, Hypoglycemia, Elevated circ... |
OMIM:608836 |
Myasthenic Syndrome, Congenital, 16 |
|
Hyperlordosis |
OMIM:614198 |
Lead Poisoning |
|
Decreased female libido, Small for gestational age, Abnormality of the menstrual cycle, Oligozoos... |
ORPHA:330015 |
Dilated Cardiomyopathy With Ataxia |
|
Elevated hepatic transaminase, Bilateral cryptorchidism, Microvesicular hepatic steatosis, Growth... |
ORPHA:66634 |
Pheochromocytoma/Paraganglioma Syndrome 4 |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Gastrointestinal stroma tumor, Glo... |
OMIM:115310 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Lipoatrophy, Congestive heart failure, Pulmonary carcinoid tumor, Intracranial hemorrhage, Hypert... |
ORPHA:363618 |
Schinzel-Giedion Syndrome |
|
Sacrococcygeal teratoma, Aganglionic megacolon, Nephroblastoma, Ependymoma, Annular pancreas, Rec... |
ORPHA:798 |
Schimke Immunoosseous Dysplasia |
|
Lumbar hyperlordosis, Small for gestational age, Ovoid vertebral bodies, Short neck, Bilateral cr... |
OMIM:242900 |
Hall-Riggs Syndrome |
|
Kyphosis, Irregular vertebral endplates, Platyspondyly, Scoliosis, Intrauterine growth retardatio... |
OMIM:234250 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Hepatomegaly, Hypoglycemia |
OMIM:246450 |
Neonatal Marfan Syndrome |
|
Iridodonesis, Tricuspid regurgitation, Lipoatrophy, Ectopia lentis, Flexion contracture, Heart mu... |
ORPHA:284979 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Pleural effusion, Leukemia, Lymphoma, Chylothorax |
ORPHA:2526 |
Zimmermann-Laband Syndrome |
|
Hepatomegaly, Splenomegaly, Gingival fibromatosis, Cleft palate, Macroglossia, High palate, Bifid... |
ORPHA:3473 |
Baralle-Macken Syndrome |
|
Kyphosis, Cataract, Urinary incontinence |
OMIM:619255 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Decreased liver function, Increased ci... |
ORPHA:26791 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Inflammation of the large intestine, Neoplasm, Myeloproliferative disorder |
ORPHA:70591 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Left ventricular hypertrophy, Kyphoscoliosis, Kyphosis, Skeletal muscle hypertrophy, Cardiomyopat... |
OMIM:300280 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 23 |
|
Intrauterine growth retardation, Hypoglycemia |
OMIM:620275 |
Three M Syndrome 2 |
|
Scapular winging, Lumbar hyperlordosis, Severe short stature, Short stature, Small for gestationa... |
OMIM:612921 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant |
|
Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Hip pain, Hypoplasia of the odontoid process, I... |
OMIM:184100 |
Sitosterolemia 1 |
|
Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Stomatocytosis, Episodic hemoly... |
OMIM:210250 |
Epiphyseal Dysplasia, Multiple, With Miniepiphyses |
|
Lumbar hyperlordosis, Short stature |
OMIM:609325 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Reduced subcutaneous adipose tissue, Lipodystrophy, Reduced intraabdominal adipose tissue, Genera... |
OMIM:608594 |
Stickler Syndrome |
|
Skeletal muscle atrophy, Cataract, Short stature, Abnormal dental enamel morphology, Cachexia, Ec... |
ORPHA:828 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Kyphosis, Platyspondyly, Short stature |
ORPHA:2786 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Recurrent respiratory infections, Splenomegaly, Leukocytosis, Intraalveolar phospholipid accumula... |
OMIM:618042 |
X-Linked Centronuclear Myopathy |
|
Necklace skeletal muscle fibers, Type 1 fibers relatively smaller than type 2 fibers, Weakness of... |
ORPHA:596 |
Aicardi-Goutières Syndrome |
|
Enchondroma, Myositis, Multiple joint contractures, Short stature, Lipoatrophy, Raynaud phenomeno... |
ORPHA:51 |
Maple Syrup Urine Disease |
|
Hypoglycemia |
OMIM:248600 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Splenomegaly, Autoimmune hemolytic anemia |
ORPHA:90037 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Premature ovarian insufficiency, Female infertility, Highly arched eyebrow, Sparse pubic hair, Ir... |
OMIM:110100 |
Lateral Meningocele Syndrome |
|
Inguinal hernia, Hyperlordosis, Short neck, Kyphosis, Cryptorchidism, Abnormal form of the verteb... |
ORPHA:2789 |
Adams-Oliver Syndrome 5 |
|
Portal vein thrombosis, Splenomegaly, Hypersplenism, Esophageal varix, Cavernous hemangioma, Righ... |
OMIM:616028 |
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome |
|
Short stature, Camptodactyly of finger, Hyperlordosis, Low posterior hairline, Vertebral segmenta... |
ORPHA:1323 |
Meningioma |
|
Back pain, Hypogonadotropic hypogonadism, Facial palsy, Obesity, Upper limb muscle weakness, Impo... |
ORPHA:2495 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Nonketotic hypoglycemia, Hepatomegaly, Hepatocellular necrosis, Periportal fibrosis, Hepatic stea... |
OMIM:201475 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Schwannoma, Ossifying fibroma, Granuloma, High palate, Lisch nodules, Neurofibrosarcoma, Hemangio... |
ORPHA:363700 |
X-Linked Creatine Transporter Deficiency |
|
Short stature, Cachexia |
ORPHA:52503 |
Hereditary Leiomyomatosis And Renal Cell Cancer |
|
Barrett esophagus, Cataract, Vaginal neoplasm, Multiple cutaneous leiomyomas, Esophageal neoplasm... |
ORPHA:523 |
Arthrogryposis, Distal, Type 5D |
|
Decreased muscle mass, Short stature, Highly arched eyebrow, Hyperlordosis, Short neck, Elbow fle... |
OMIM:615065 |
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Squamous cell carcinoma |
OMIM:618373 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Cervical platyspondyly, Severe short stature, Lumbar hyperlordosis, Limb joint contracture, Incre... |
ORPHA:93314 |
Fucosidosis |
|
Cervical platyspondyly, Lumbar hyperlordosis, Ovoid vertebral bodies, Anterior beaking of thoraci... |
OMIM:230000 |
Arthrogryposis Multiplex Congenita 6 |
|
Arthrogryposis multiplex congenita, Nemaline bodies, Increased variability in muscle fiber diameter |
OMIM:619334 |
Fanconi Anemia |
|
Abnormality of chromosome stability, Cataract, Short stature, Hypospadias, Abnormal preputium mor... |
ORPHA:84 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Inguinal hernia, Cataract, Flexion contracture, Irregular vertebral endplates, Coronal cleft vert... |
OMIM:222765 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis |
ORPHA:59303 |
Macrophage Activation Syndrome |
|
Hepatomegaly, Splenomegaly, Hepatitis, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Ab... |
ORPHA:158061 |
Braddock-Carey Syndrome 1 |
|
Curly hair, Hyperlordosis, Camptodactyly, Sparse hair, Enamel hypoplasia |
OMIM:619980 |
Infantile Krabbe Disease |
|
Failure to thrive, Shoulder girdle muscle weakness, Cachexia |
ORPHA:206436 |
Frontorhiny |
|
Pericallosal lipoma, Lumbar hyperlordosis, Cataract, Camptodactyly of finger, Widow's peak, Scoli... |
ORPHA:391474 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Reduced subcutaneous adipose tissue, Lipodystrophy, Reduced intraabdominal adipose tissue, Genera... |
OMIM:269700 |
Hereditary Fructose Intolerance |
|
Hepatomegaly, Reduced circulating aldolase concentration, Reactive hypoglycemia, Jaundice, Growth... |
ORPHA:469 |
O'Donnell-Luria-Rodan Syndrome |
|
Kyphosis, Cryptorchidism |
OMIM:618512 |
Seckel Syndrome 10 |
|
Diabetes mellitus, Severe short stature, Impaired glucose tolerance, Elevated circulating asparta... |
OMIM:617253 |
Immunodeficiency 59 And Hypoglycemia |
|
Hepatomegaly, Prolonged neonatal jaundice, Short stature, Hypoglycemia |
OMIM:233600 |
Chromosome 10Q26 Deletion Syndrome |
|
Omphalocele, Scapular winging, Lumbar hyperlordosis, Short stature, Small for gestational age, Sm... |
OMIM:609625 |
Native American Myopathy |
|
Skeletal muscle atrophy, Cryptorchidism, Abnormality of skeletal muscle fiber size, Abnormal curv... |
ORPHA:168572 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Increased mean platelet volume, Splenomegaly, Stomatocytosis, Thrombocytopenia |
OMIM:153670 |
Chime Syndrome |
|
Cleft palate, Acute leukemia |
ORPHA:3474 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Male infertility, Primary testicular failure, Oligozoospermia, Weight loss, Myopathy, Hypogonadis... |
ORPHA:85450 |
Norrie Disease |
|
Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ectopia lentis, Cachexia... |
ORPHA:649 |
Trichothiodystrophy 1, Photosensitive |
|
Cataract, Brittle hair, Trichoschisis, Small for gestational age, Flexion contracture, Absence of... |
OMIM:601675 |
Noonan Syndrome 3 |
|
Juvenile myelomonocytic leukemia, High palate |
OMIM:609942 |
Spinocerebellar Ataxia Type 32 |
|
Male infertility, Azoospermia, Testicular atrophy |
ORPHA:276183 |
Diastrophic Dysplasia |
|
Camptodactyly of finger, Kyphosis, Cryptorchidism, Visceral angiomatosis, Abnormal form of the ve... |
ORPHA:628 |
Spermatogenic Failure 75 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619949 |
3-Methylglutaconic Aciduria Type 7 |
|
Growth delay, Hepatic steatosis, Neonatal hypoglycemia, Elevated hepatic transaminase |
ORPHA:445038 |
Ciliary Dyskinesia, Primary, 37 |
|
Female infertility |
OMIM:617577 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Diaphragmatic eventration, Spinal muscular atrophy, Flexion contracture, Increased variability in... |
OMIM:616866 |
Riddle Syndrome |
|
Conjunctival telangiectasia, Weight loss, Short stature, Chromosomal breakage induced by ionizing... |
ORPHA:420741 |
Huntington Disease-Like 2 |
|
Weight loss |
ORPHA:98934 |
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Short stature, Thoracolumbar scoliosis, Hyperlordosis, Kyphosis, Myopic astigmatism, Synophrys, O... |
OMIM:618443 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Skeletal muscle hypertrophy, Kyphosis, Scoliosis |
ORPHA:99014 |
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans |
|
Lumbar hyperlordosis, Short stature |
OMIM:165800 |
Aica-Ribosuria Due To Atic Deficiency |
|
Hypoglycemia |
OMIM:608688 |
Glucocorticoid Deficiency 1 |
|
Recurrent hypoglycemia |
OMIM:202200 |
Crisponi Syndrome |
|
Camptodactyly of finger, Sudden cardiac death, Kyphosis, Flexion contracture, Scoliosis |
ORPHA:1545 |
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion |
|
Duodenal polyposis, Adenomatous colonic polyposis, Desmoid tumors, Iron deficiency anemia, Osteom... |
ORPHA:261584 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Hepatomegaly, Hypoglycemia |
OMIM:251000 |
Cartilage-Hair Hypoplasia |
|
Abnormally ossified vertebrae, Biconvex vertebral bodies, Rhizomelia, Sacral dimple, Abnormality ... |
ORPHA:175 |
Transaldolase Deficiency |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Micronodular cirrhosis, Hepatosplenomegaly, Anemia, Hep... |
OMIM:606003 |
Gray Platelet Syndrome |
|
Splenomegaly, Thrombocytopenia, Abnormal number of alpha granules |
OMIM:139090 |
Spondyloepiphyseal Dysplasia Tarda |
|
Back pain, Abnormally ossified vertebrae, Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Hypop... |
ORPHA:93284 |
Glycogen Storage Disease Ib |
|
Elevated hepatic transaminase, Hepatomegaly, Short stature, Hypoglycemia, Hepatocellular carcinom... |
OMIM:232220 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Calcinosis, Generalized lipodystrophy, Short stature, Delayed puberty |
ORPHA:90154 |
Multiple Endocrine Neoplasia Type 2 |
|
Reduced subcutaneous adipose tissue, Multiple mucosal neuromas, Cervical neoplasm, Paraganglioma ... |
ORPHA:653 |
Budd-Chiari Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Elevated hepatic transaminase,... |
ORPHA:131 |
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
|
Keloids, Cryptorchidism, Torticollis, Oligozoospermia |
OMIM:314300 |
Spermatogenic Failure 6 |
|
Male infertility, Decreased acrosin in sperm head, Globozoospermia |
OMIM:102530 |
Dysostosis, Stanescu Type |
|
Abnormal dental enamel morphology, Hyperlordosis, Short neck, Kyphosis, Macroglossia, Scoliosis, ... |
ORPHA:1798 |
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
Kyphosis, Foot dorsiflexor weakness, Short stature, Scoliosis |
OMIM:618124 |
Isaacs Syndrome |
|
Calf muscle hypertrophy, Weight loss |
ORPHA:84142 |
Bachmann-Bupp Syndrome |
|
Cryptorchidism, Hypoglycemia |
OMIM:619075 |
Wrinkly Skin Syndrome |
|
Inguinal hernia, Decreased muscle mass, Short stature, Lipodystrophy, Kyphoscoliosis, Postnatal g... |
ORPHA:2834 |
Ruvalcaba Syndrome |
|
Inguinal hernia, Short stature, Kyphosis, Cryptorchidism, Scoliosis, Delayed puberty |
OMIM:180870 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Myopathy, Increased variability in muscle fiber diameter |
OMIM:125250 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel... |
OMIM:601847 |
Wilson Disease |
|
Hepatomegaly, Splenomegaly, Jaundice, Hepatitis, Anemia, Cirrhosis, Acute hepatitis, Hepatic stea... |
ORPHA:905 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Intrauterine growth retardation, Abnormal circulating enzyme concentration or activity, Neonatal ... |
ORPHA:565624 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Inguinal hernia, Abnormal intervertebral disk morphology, Short stature, Camptodactyly of finger,... |
ORPHA:2311 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Skeletal muscle atrophy, Sacral dimple, Multiple joint contractures, Kyphosis, Flexion contractur... |
OMIM:618291 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Cataract, Hyperlordosis, Hypoplasia of the odontoid process, Flexion contracture, Spinal canal st... |
OMIM:616007 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Neonatal hypoglycemia |
OMIM:619046 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... |
OMIM:617394 |
Cowden Syndrome 5 |
|
Cataract, Kyphosis, Breast carcinoma, Hydrocele testis, Hamartomatous polyposis, Meningioma, Scol... |
OMIM:615108 |
Autoimmune Hepatitis |
|
Gastrointestinal hemorrhage, Viral hepatitis, Elevated hepatic transaminase, Diffuse hepatic stea... |
ORPHA:2137 |
Leukocyte Adhesion Deficiency |
|
Acute myeloid leukemia, Pneumonia, Lymphocytic interstitial pneumonia, Perianal abscess, Respirat... |
ORPHA:2968 |
Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Aortic regurgitation, Kyphosis, Umbilical hernia, Scoliosis |
ORPHA:2181 |
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:2429 |
Cohen Syndrome |
|
Thoracic scoliosis, Lumbar hyperlordosis, Short stature, Small for gestational age, Facial hypoto... |
OMIM:216550 |
Split Cord Malformation |
|
Back pain, Abnormal thoracic spine morphology, Low back pain, Urinary incontinence, Kyphoscoliosi... |
ORPHA:573278 |
Kleefstra Syndrome 2 |
|
Growth delay, Kyphosis, Scoliosis |
OMIM:617768 |
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome |
|
Kyphosis, Abnormal testis morphology, Scoliosis |
ORPHA:1548 |
Trisomy 13 |
|
Cataract, Kyphosis, Cryptorchidism, Aplasia/Hypoplasia of the iris, Capillary hemangioma, Hernia,... |
ORPHA:3378 |
Timothy Syndrome |
|
Hypoglycemia |
OMIM:601005 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Abnormality of the musculature of the lower limbs, Short stature, Urinary incontinence, Absent pu... |
ORPHA:464282 |
Kaposiform Lymphangiomatosis |
|
Pancreatic cysts, Thrombocytopenia, Splenomegaly, Abnormality of the lymphatic system, Abnormal l... |
ORPHA:464329 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Alopecia, Small scrotum, Abnormal dental enamel morphology, Highly arched eyebrow, Hyperlordosis,... |
ORPHA:3253 |
Martsolf Syndrome 1 |
|
Thoracic scoliosis, Lumbar hyperlordosis, Short stature, Hypogonadotropic hypogonadism, Cataract,... |
OMIM:212720 |
Rabson-Mendenhall Syndrome |
|
Short stature, Impaired glucose tolerance, Insulin resistance, Fasting hyperinsulinemia, Insulin-... |
ORPHA:769 |
Noonan Syndrome 1 |
|
Juvenile myelomonocytic leukemia, Amegakaryocytic thrombocytopenia, High, narrow palate, Cleft pa... |
OMIM:163950 |
Shashi-Pena Syndrome |
|
Intrauterine growth retardation, Hypoglycemia |
OMIM:617190 |
Reni Syndrome |
|
Cryptorchidism, Hypoglycemia |
OMIM:617575 |
Rubinstein-Taybi Syndrome 1 |
|
Accessory spleen, Respiratory tract infection, High, narrow palate, Recurrent upper respiratory t... |
OMIM:180849 |
Syndromic Diarrhea |
|
Hepatomegaly, Villous atrophy, Gastritis, Increased mean platelet volume, Splenomegaly, Abnormali... |
ORPHA:84064 |
Proteus Syndrome |
|
Central heterochromia, Cataract, Decreased muscle mass, Abnormal dental enamel morphology, Testic... |
ORPHA:744 |
Proximal Myopathy With Extrapyramidal Signs |
|
Increased variability in muscle fiber diameter, Central core regions in muscle fibers, Centrally ... |
ORPHA:401768 |
Tyrosinemia, Type I |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Hypoglycemia, Growth delay, C... |
OMIM:276700 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Elevated hepatic transaminase, Hypoglycemia, Cholangitis, Microvesicular hepatic steatosis, Chole... |
OMIM:124000 |
Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... |
ORPHA:231226 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Fatty replacement of skeletal muscle, Myopathy, Increased variability in muscle fiber diameter, E... |
ORPHA:397744 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Kyphosis, Astigmatism, Scoliosis, Cryptorchidism |
OMIM:619797 |
Zimmermann-Laband Syndrome 2 |
|
Macroglossia, Kyphosis, Short stature, Short neck |
OMIM:616455 |
Bruck Syndrome |
|
Short stature, Kyphosis, Platyspondyly, Scoliosis, Arthrogryposis multiplex congenita, Pterygium |
ORPHA:2771 |
Ovarian Dysgenesis 3 |
|
Aplasia of the ovary, Primary amenorrhea, Female infertility, Delayed puberty |
OMIM:614324 |
Mucopolysaccharidosis, Type Vii |
|
Anterior beaking of lower thoracic vertebrae, Severe short stature, Short stature, Corneal opacit... |
OMIM:253220 |
Beta-Thalassemia Major |
|
Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, ... |
ORPHA:231214 |
Subaortic Stenosis-Short Stature Syndrome |
|
Inguinal hernia, Short stature, Short neck, Kyphosis, Scoliosis, Arrhythmia |
ORPHA:3191 |
Icf Syndrome |
|
Macroglossia, Umbilical hernia, Abnormality of chromosome stability, Short stature |
ORPHA:2268 |
Anauxetic Dysplasia 1 |
|
Hip contracture, Severe short stature, Rhizomelia, Lumbar hyperlordosis, Short neck, Elbow flexio... |
OMIM:607095 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Sacral dimple, Inguinal hernia, Kyphosis, Umbilical hernia, Nephroblastoma |
OMIM:618272 |
Autosomal Recessive Spastic Paraplegia Type 53 |
|
Kyphosis, Upper limb hypertonia |
ORPHA:319199 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Exercise intolerance, Skeletal muscle atrophy, Cataract, Facial palsy, Ragged-red muscle fibers, ... |
OMIM:157640 |
Sarcoidosis, Susceptibility To, 2 |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Pneumothorax, Bronchiectasis, Abnormal p... |
OMIM:612387 |
Bone Dysplasia, Lethal Holmgren Type |
|
Rhizomelia, Short neck, Weight loss, Severe short-limb dwarfism, Hernia, Failure to thrive |
ORPHA:1842 |
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Hypoplastic sacrum, Rhizomelia, Small for gestational age, Oligozoospermia, Growth delay, Clitora... |
OMIM:614813 |
Peritoneal Cystic Mesothelioma |
|
Menorrhagia, Dyspareunia, Metrorrhagia, Weight loss |
ORPHA:168816 |
Osteogenesis Imperfecta, Type Ix |
|
Kyphosis, Platyspondyly, Disproportionate short-limb short stature, Scoliosis, Dentinogenesis imp... |
OMIM:259440 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Hepatomegaly, Hypoglycemia, Microvesicular hepatic steatosis, Macronodular cirrhosis, Growth dela... |
OMIM:619418 |
Lethal Congenital Contracture Syndrome 9 |
|
Thoracic kyphoscoliosis, Elbow extension contracture, Centrally nucleated skeletal muscle fibers,... |
OMIM:616503 |
Complete Androgen Insensitivity Syndrome |
|
Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Sparse axillary hair, ... |
ORPHA:99429 |
Immunodeficiency, Common Variable, 10 |
|
Hypoglycemia |
OMIM:615577 |
Usmani-Riazuddin Syndrome, Autosomal Dominant |
|
Lumbar hyperlordosis, Thoracic kyphosis |
OMIM:619467 |
Trichorhinophalangeal Syndrome Type 1 |
|
Sparse eyelashes, Camptodactyly of finger, Hyperlordosis, Sparse eyebrow, Leukonychia, Scoliosis,... |
ORPHA:77258 |
Hemifacial Atrophy, Progressive |
|
Trigeminal neuralgia, Kyphosis |
OMIM:141300 |
Isolated Complex I Deficiency |
|
Intrauterine growth retardation, Diabetes mellitus, Hypoglycemia, Hepatomegaly |
ORPHA:2609 |
Developmental Malformations-Deafness-Dystonia Syndrome |
|
Cataract, Short stature, Kyphosis, Macroglossia, Scoliosis |
ORPHA:79107 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Propionyl-CoA carboxylase deficiency, Hypoglycemia |
OMIM:210210 |
Cockayne Syndrome Type 2 |
|
Scarring, Kyphosis, Cryptorchidism, Flexion contracture, Developmental cataract, Conjunctivitis, ... |
ORPHA:90322 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Lumbar hyperlordosis, Short stature, Proportionate short stature, Irregular vertebral endplates, ... |
OMIM:156500 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Lumbar hyperlordosis, Flexion contracture, Coronal cleft vertebrae, Platyspondyly, Arthralgia, Be... |
OMIM:215150 |
Nail-Patella Syndrome |
|
Back pain, Keratoconus, Biceps aplasia, Lumbar hyperlordosis, Short stature, Cataract, Absence of... |
OMIM:161200 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Pulmonary artery ste... |
OMIM:280000 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Cachexia, Ragged-red muscle fibers, Weight loss, Distal amyotrophy, Slender build |
OMIM:603041 |
Keppen-Lubinsky Syndrome |
|
Lack of facial subcutaneous fat, Flexion contracture, Absence of subcutaneous fat, Generalized li... |
OMIM:614098 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Severe short stature, Hyperlordosis, Short neck, Disproportionate short stature, Platyspondyly, S... |
ORPHA:93352 |
Attrv30M Amyloidosis |
|
Impotence, Weight loss |
ORPHA:85447 |
Pancreatic And Cerebellar Agenesis |
|
Hyperglycemia, Diabetes mellitus, Hypoglycemia, Severe intrauterine growth retardation |
OMIM:609069 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, P... |
ORPHA:731 |
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome |
|
Camptodactyly of toe, Nuclear cataract, Lumbar hyperlordosis, Camptodactyly of finger |
ORPHA:2848 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Curly hair, Short stature, Hyperlordosis, Scoliosis, Failure to thrive |
OMIM:300986 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Lumbar hyperlordosis, Disproportionate short stature, Irregular vertebral endplates, Platyspondyl... |
OMIM:609616 |
Nail-Patella Syndrome |
|
Back pain, Decreased muscle mass, Lumbar hyperlordosis, Lester's sign, Contracture of the distal ... |
ORPHA:2614 |
Spermatogenic Failure 28 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size |
OMIM:618086 |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Elevated hepatic transaminase, Hypoglycemia, Hypoglycemic seizures |
ORPHA:480864 |
Exfoliation Syndrome |
|
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... |
OMIM:177650 |
Poland Syndrome |
|
Retinal hamartoma, Abnormality of the liver, Neoplasm of the breast, Acute leukemia |
ORPHA:2911 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Scapular winging, Short stature, Hyperlordosis, Coronal cleft vertebrae, Scoliosis, Butterfly ver... |
OMIM:618870 |
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:85317 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
|
Kyphosis, Atrophic scars, Scoliosis, Hyperlordosis |
OMIM:617821 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Intrauterine growth retardation, Short stature, Hypoglycemia |
OMIM:618005 |
Pelvis-Shoulder Dysplasia |
|
Lumbar hyperlordosis, Short stature, Camptodactyly of finger, Mesomelic/rhizomelic limb shortenin... |
ORPHA:2839 |
Wiedemann-Rautenstrauch Syndrome |
|
Hypoplastic vertebral bodies, Loss of facial adipose tissue, Short stature, Cryptorchidism, Pulmo... |
ORPHA:3455 |
Microsporidiosis |
|
Myositis, Cachexia, Keratitis, Abnormal endometrium morphology, Keratoconjunctivitis, Weight loss... |
ORPHA:2552 |
Ring Chromosome 12 Syndrome |
|
Lumbar hyperlordosis, Small for gestational age, Cryptorchidism, Glandular hypospadias, Growth de... |
ORPHA:1439 |
Hypochondroplasia |
|
Widened interpedicular distance, Lumbar hyperlordosis, Disproportionate short-limb short stature |
OMIM:146000 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Splenomegaly, Jaundice, Intrah... |
OMIM:607765 |
Myoclonus, Intractable, Neonatal |
|
Increased variability in muscle fiber diameter |
OMIM:617235 |
Laryngeal Neuroendocrine Tumor |
|
Weight loss |
ORPHA:100083 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Distal lower limb amyotrophy, Short stature, Cryptorchidism, Kyphosis, Macroglossia, Delayed pube... |
OMIM:300354 |
Osteogenic Sarcoma |
|
Retinoblastoma, Osteosarcoma |
OMIM:259500 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Kyphosis, Short stature, Scoliosis |
ORPHA:1858 |
Mirage Syndrome |
|
Short stature, Hypoglycemia, Cryptorchidism, Intrauterine growth retardation, Decreased testicula... |
OMIM:617053 |
15Q24 Microdeletion Syndrome |
|
Short stature, Congenital diaphragmatic hernia, Postnatal growth retardation, Kyphosis, Cryptorch... |
ORPHA:94065 |
Gaucher Disease Type 1 |
|
Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Leukopenia, Cirrhosis, Ascites, ... |
ORPHA:77259 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Elevated hepatic transaminase, Hepatomegaly, Reduced natural killer cell activity, Splenomegaly, ... |
ORPHA:540 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Exercise intolerance, Skeletal muscle atrophy, Scapular winging, Cataract, Centrally nucleated sk... |
OMIM:607459 |
Immunodeficiency 47 |
|
Normocytic anemia, Leukopenia, Hepatic fibrosis, Hepatic steatosis, Accessory spleen, Hepatomegal... |
OMIM:300972 |
Frank-Ter Haar Syndrome |
|
Inguinal hernia, Camptodactyly of finger, Kyphosis, Scoliosis, Umbilical hernia, Beaking of verte... |
ORPHA:137834 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Intrauterine growth retardation, Hypoglycemia, Neonatal hypoglycemia |
OMIM:619055 |
Spondylocarpotarsal Synostosis Syndrome |
|
Vertebral fusion, Inguinal hernia, Scapular winging, Block vertebrae, Cataract, Short neck, Hyper... |
OMIM:272460 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Vertebral fusion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Scoliosis, Butterfly vertebrae |
ORPHA:313892 |
Basilicata-Akhtar Syndrome |
|
Neonatal hypoglycemia |
OMIM:301032 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Rhizomelia, Abnormal form of the vertebral bodies, Hyperlordosis |
ORPHA:2831 |
Spermatogenic Failure 9 |
|
Male infertility, Globozoospermia |
OMIM:613958 |
Spermatogenic Failure 67 |
|
Male infertility, Globozoospermia |
OMIM:619803 |
Spermatogenic Failure 68 |
|
Male infertility, Globozoospermia |
OMIM:619805 |
Spermatogenic Failure 69 |
|
Male infertility, Globozoospermia |
OMIM:619826 |
Spermatogenic Failure 66 |
|
Male infertility, Globozoospermia |
OMIM:619799 |
Ulnar Agenesis And Endocardial Fibroelastosis |
|
Neonatal death |
OMIM:276822 |
Wieacker-Wolff Syndrome, Female-Restricted |
|
Hip contracture, Short stature, Urinary incontinence, Facial palsy, Short neck, Kyphosis, Achille... |
OMIM:301041 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Splenomegaly, Jaundice, Intrahepatic cholestasis, Hepatomegaly |
OMIM:235555 |
Anterior Segment Dysgenesis 8 |
|
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi... |
OMIM:617319 |
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Lipoma, Splenomegaly, Nephroblastoma |
OMIM:612918 |
Trichorhinophalangeal Syndrome, Type I |
|
Scapular winging, Short stature, Slow-growing hair, Hyperlordosis, Leukonychia, Fine hair, Growth... |
OMIM:190350 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Cryptorchidism, Rhizomelia, Hypoglycemia |
OMIM:607143 |
Immunodeficiency 82 With Systemic Inflammation |
|
Villous atrophy, Decreased proportion of naive T cells, Bronchitis, T lymphocytopenia, Colitis, B... |
OMIM:619381 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Corneal opacity, Cachexia, Growth delay, Azoospermia, Scoliosis, Delayed puberty, Thoracolumbar k... |
ORPHA:2072 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Cirrhosis,... |
OMIM:211600 |
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
|
Lumbar hyperlordosis, Rhizomelia, Short stature, Cryptorchidism, Joint contracture |
OMIM:602471 |
Weismann-Netter Syndrome |
|
Kyphosis, Horizontal sacrum, Severe short stature, Scoliosis |
OMIM:112350 |
Eosinophilic Fasciitis |
|
Myositis, Fasciitis, Weight loss, Cellulitis, Muscular edema |
ORPHA:3165 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Hypoplastic sacrum, Lumbar hyperlordosis, Disproportionate short-trunk short stature, Platyspondyly |
OMIM:271650 |
46,Xy Partial Gonadal Dysgenesis |
|
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Micropenis, Ovarian gonadoblasto... |
ORPHA:251510 |
Pelvis-Shoulder Dysplasia |
|
Back pain, Lumbar hyperlordosis, Short stature, Opacification of the corneal stroma, Spina bifida... |
OMIM:169550 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Neonatal hypoglycemia |
OMIM:617600 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Lymphoproliferative disorder, Portal h... |
OMIM:615688 |
3C Syndrome |
|
Inguinal hernia, Short stature, Short neck, Postnatal growth retardation, Kyphosis, Hemivertebrae... |
ORPHA:7 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... |
ORPHA:1772 |
Tempi Syndrome |
|
Ascites, Increased hematocrit, Polycythemia |
ORPHA:284227 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Intrahepatic cholest... |
OMIM:613812 |
Smith-Mccort Dysplasia 2 |
|
Short stature, Hyperlordosis, Short neck, Hypoplasia of the odontoid process, Disproportionate sh... |
OMIM:615222 |
Revesz Syndrome |
|
Abnormality of chromosome stability, Leukocoria, Fine hair, Nail dystrophy, Sparse hair, Intraute... |
OMIM:268130 |
Steel Syndrome |
|
Lumbar hyperlordosis, Short stature, Scoliosis |
OMIM:615155 |
Acquired Hypertrichosis Lanuginosa |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Weight loss, Fine hair, Macroglossia, Ovar... |
ORPHA:2221 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Kyphosis, Distal amyotrophy, Flexion contracture, Scoliosis |
OMIM:609541 |
Otospondylomegaepiphyseal Dysplasia |
|
Abnormally ossified vertebrae, Lumbar hyperlordosis, Cataract, Short neck, Disproportionate short... |
ORPHA:1427 |
Schaaf-Yang Syndrome |
|
Short stature, Kyphosis, Cryptorchidism, Flexion contracture, Scoliosis, Camptodactyly, Arthrogry... |
OMIM:615547 |
Gm1-Gangliosidosis, Type I |
|
Inguinal hernia, Severe short stature, Short neck, Kyphosis, Congestive heart failure, Dilated ca... |
OMIM:230500 |
Rhizomelic Syndrome, Urbach Type |
|
Short stature, Rhizomelia, Short neck, Kyphosis, Abnormal form of the vertebral bodies, Pulmonic ... |
ORPHA:3098 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Alopecia, Myositis, Failure to thrive in infancy, Cachexia, Nail dystrophy |
ORPHA:37042 |
Glycogen Storage Disease Xii |
|
Normocytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, Nons... |
OMIM:611881 |
Spastic Paraplegia 53, Autosomal Recessive |
|
Kyphosis, Lower limb hypertonia, Upper limb hypertonia |
OMIM:614898 |
Dopamine Beta-Hydroxylase Deficiency |
|
Insulin resistance, Hyperinsulinemia, Hypoglycemia |
ORPHA:230 |
Tenorio Syndrome |
|
Hypoglycemia, Hypoinsulinemia |
OMIM:616260 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Fatigue, Exercise intolerance, Facial hypotonia, Glycogen accumulation in muscle fiber lysosomes,... |
ORPHA:365 |
Fructose Intolerance, Hereditary |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Jaundice, Cirrhosis, Glycosuria, Hepat... |
OMIM:229600 |
Achondroplasia |
|
Lumbar hyperlordosis, Rhizomelia, Kyphosis, Disproportionate short stature, Spinal canal stenosis... |
ORPHA:15 |
Multiple Endocrine Neoplasia, Type Iib |
|
Failure to thrive in infancy, Hyperlordosis, Kyphosis, Myopathy, Pheochromocytoma, Scoliosis, Med... |
OMIM:162300 |
Familial Tumoral Calcinosis |
|
Splenomegaly, Hepatomegaly, Neoplasm of the skin |
ORPHA:53715 |
Barber-Say Syndrome |
|
Cryptorchidism, Lipodystrophy |
OMIM:209885 |
Weill-Marchesani Syndrome 2 |
|
Iridodonesis, Lumbar hyperlordosis, Cataract, Lens luxation, Ectopia lentis, Microspherophakia, E... |
OMIM:608328 |
Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Hyperglycemia, Hypoglycemia |
ORPHA:134 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... |
ORPHA:17 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Vertebral fusion, Congenital muscular torticollis, Vaginal hernia, Short stature, Abnormal dental... |
ORPHA:2916 |
Emanuel Syndrome |
|
Sacral dimple, Inguinal hernia, Torticollis, Congenital diaphragmatic hernia, Kyphosis, Cryptorch... |
OMIM:609029 |
Proteus-Like Syndrome |
|
Thymus hyperplasia, Splenomegaly, Bronchogenic cyst, Hemangioma, Subcutaneous lipoma, Exostoses |
ORPHA:2969 |
Marden-Walker Syndrome |
|
Inguinal hernia, Decreased muscle mass, Short neck, Postnatal growth retardation, Kyphosis, Crypt... |
OMIM:248700 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Lumbar hyperlordosis, Obesity, Irregular vertebral endplates, Platyspondyly, Disproportionate sho... |
ORPHA:174 |
Hurler Syndrome |
|
Aortic regurgitation, Inguinal hernia, Short stature, Corneal opacity, Short neck, Hypoplasia of ... |
OMIM:607014 |
3-Methylglutaconic Aciduria, Type Viib |
|
Rhizomelia, Growth delay, Intrauterine growth retardation, Hepatic steatosis, Neonatal hypoglycemia |
OMIM:616271 |
Hip Dysplasia, Beukes Type |
|
Kyphosis, Scoliosis |
ORPHA:2114 |
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Distal amyotrophy, Lumbar hyperlordosis, Limb muscle weakness, Scoliosis |
OMIM:601152 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Cataract, Bowel incontinence, Kyphosis, Chronic pain, Scoliosis, Camptodactyly, Flexion contractu... |
ORPHA:88628 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Elevated hepatic transaminase, Hypoglycemia |
OMIM:616878 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Severe postnatal growth retardation, Short stature, Neonatal hypoglycemia |
ORPHA:35173 |
Mucopolysaccharidosis Type 6 |
|
Ovoid vertebral bodies, Short neck, Kyphosis, Disproportionate short-trunk short stature, Macrogl... |
ORPHA:583 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Splenomegaly, Lymphadenopathy, Hepatomegaly |
ORPHA:85414 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Cataract, Severe short stature, Facial palsy, Hyperlordosis, Scoliosis, Spina bifida occulta |
ORPHA:2780 |
Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Short stature, Camptodactyly of finger, Kyphosis, Joint contracture of the 5th finger, Scoliosis |
ORPHA:1883 |
Pycnodysostosis |
|
Hyperlordosis, Overweight, Kyphosis, Chronic pain, Spondylolysis, Scoliosis, Enamel hypoplasia, S... |
ORPHA:763 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Hepatomegaly, Thrombocytopenia, Splenomegaly, Jaundice... |
OMIM:214500 |
Leigh Syndrome |
|
Abnormal circulating enzyme concentration or activity, Hypoglycemia, Growth delay, Intrauterine g... |
ORPHA:506 |
Schimke Immuno-Osseous Dysplasia |
|
Lumbar hyperlordosis, Short stature, Ovoid vertebral bodies, Corneal opacity, Short neck, Small f... |
ORPHA:1830 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Fused labia majora, Flexion contracture, Abnormal ovarian morphology, Micropenis, Abnormal verteb... |
ORPHA:95699 |
Primary Ciliary Dyskinesia |
|
Male infertility, Abnormal sperm motility, Female infertility |
ORPHA:244 |
8P23.1 Microdeletion Syndrome |
|
Short stature, Hypospadias, Congenital diaphragmatic hernia, Short neck, Cryptorchidism, Obesity,... |
ORPHA:251071 |
Hallermann-Streiff Syndrome |
|
Sparse scalp hair, Cataract, Sparse eyelashes, Small for gestational age, Proportionate short sta... |
OMIM:234100 |
Mitochondrial Trifunctional Protein Deficiency |
|
Diffuse hepatic steatosis, Chronic hepatic failure, Cholestasis, Hypoketotic hypoglycemia |
ORPHA:746 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Hepatosplenomegaly, Anemia, Leukopenia, Lymph... |
OMIM:603553 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Macroorchidism, Jaundice, Hypoglycemia |
ORPHA:90790 |
Myasthenic Syndrome, Congenital, 20, Presynaptic |
|
Skeletal muscle atrophy, Facial palsy, Kyphosis, Scoliosis, Arthrogryposis multiplex congenita |
OMIM:617143 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Congenital diaphragmatic hernia, Short neck, Flexion contracture, Kn... |
OMIM:265000 |
Juvenile Polyposis Of Infancy |
|
Cachexia, Freckled genitalia, Short stature, Subcutaneous lipoma |
ORPHA:79076 |
Marfanoid Habitus With Situs Inversus |
|
Aortic regurgitation, Kyphosis, Lens subluxation, Pulmonic stenosis, Scoliosis |
OMIM:609008 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Male infertility, Bifid scrotum, Hypospadias, Precocious puberty in females, Bilateral cryptorchi... |
ORPHA:90793 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Skeletal muscle atrophy, Thoracic scoliosis, Kyphosis, Knee flexion contracture, Mitral regurgita... |
OMIM:603387 |
Ciliary Dyskinesia, Primary, 45 |
|
Male infertility, Absent inner and outer dynein arms |
OMIM:618801 |
Sotos Syndrome |
|
Sacrococcygeal teratoma, Astrocytoma, Aganglionic megacolon, Small cell lung carcinoma, Acute lym... |
ORPHA:821 |
Urban-Rogers-Meyer Syndrome |
|
Short stature, Camptodactyly of finger, Short neck, Kyphosis, Cryptorchidism, Flexion contracture... |
ORPHA:3409 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Tricuspid regurgitation, Short stature, Postnatal growth retardation, Flexion contracture, Genera... |
OMIM:619127 |
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy |
|
Type 1 muscle fiber predominance, Increased variability in muscle fiber diameter, Frontal hirsuti... |
OMIM:612949 |
Wiedemann-Rautenstrauch Syndrome |
|
Reduced subcutaneous adipose tissue, Cataract, Short stature, Lipoatrophy, Short neck, Cryptorchi... |
OMIM:264090 |
Mucopolysaccharidosis, Type Vi |
|
Inguinal hernia, Lumbar hyperlordosis, Corneal opacity, Ovoid vertebral bodies, Kyphoscoliosis, A... |
OMIM:253200 |
Mucopolysaccharidosis, Type X |
|
Hyperlordosis, Disproportionate short-trunk short stature, Platyspondyly, Posterior scalloping of... |
OMIM:619698 |
Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Kyphosis, Scoliosis |
OMIM:610743 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Hepatomegaly, Hepatic calcification, Reduced carnitine O-palmitoyltransferase level, Hepatic fail... |
ORPHA:157 |
Autosomal Dominant Keratitis |
|
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Limbal stem cell deficiency... |
ORPHA:2334 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Elevated hepatic transaminase, Short stature, Hypoglycemia, Portal hypertension, Cholestasis, Gro... |
OMIM:613658 |
Lethal Congenital Contracture Syndrome 10 |
|
Omphalocele, Thoracic scoliosis, Torticollis, Short neck, Macroglossia, Increased variability in ... |
OMIM:617022 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Hypoketotic hypoglycemia |
ORPHA:26793 |
Sotos Syndrome |
|
Glucose intolerance, Prolonged neonatal jaundice, Neonatal hypoglycemia, Cryptorchidism |
OMIM:117550 |
Partial Androgen Insensitivity Syndrome |
|
Male infertility, Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Hypospadias, Bilateral... |
ORPHA:90797 |
Dyskeratosis Congenita |
|
Neoplasm of the pancreas, Hepatomegaly, Recurrent respiratory infections, Esophageal stenosis, Ab... |
ORPHA:1775 |
Triosephosphate Isomerase Deficiency |
|
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Splenomegaly, Jaundice, Normochromic anem... |
OMIM:615512 |
Dyggve-Melchior-Clausen Disease |
|
Lumbar hyperlordosis, Short neck, Postnatal growth retardation, Hypoplasia of the odontoid proces... |
OMIM:223800 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Jaundice, Hypoglycemia |
OMIM:615751 |
Stickler Syndrome, Type I |
|
Cataract, Kyphosis, Platyspondyly, Arthralgia, Morbus Scheuermann, Scoliosis, Beaking of vertebra... |
OMIM:108300 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Cryptorchidism, Neonatal hypoglycemia |
ORPHA:457485 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Lumbar hyperlordosis, Rhizomelia, Severe short stature, Urinary incontinence, Bowel incontinence,... |
OMIM:616482 |
Peripheral Primitive Neuroectodermal Tumor |
|
Back pain, Abnormal thoracic spine morphology, Torticollis, Metrorrhagia, Precocious puberty, Wei... |
ORPHA:370348 |
Late-Onset Isolated Acth Deficiency |
|
Type I diabetes mellitus, Hypoglycemia, Hepatitis |
ORPHA:199299 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Lumbar hyperlordosis, Short neck, Platyspondyly, Disproportionate short-limb short stature, Scoli... |
OMIM:602557 |
Distal Deletion 10Q |
|
Failure to thrive, Lumbar hyperlordosis, Short stature, Scapular winging, Postnatal growth retard... |
ORPHA:96148 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Thoracic kyphoscoliosis, Lumbar hyperlordosis, Failure to thrive in infancy, Increased vertebral ... |
OMIM:613385 |
4Q21 Microdeletion Syndrome |
|
Short neck, Kyphosis, Growth delay, Scoliosis, Intrauterine growth retardation |
ORPHA:238750 |
Hemophagocytic Syndrome Associated With An Infection |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Abnormal T cell subset distribution, Anemia, Hemophagoc... |
ORPHA:158048 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Nonketotic hypoglycemia, Hepatomegaly, Elevated hepatic transaminase, Jaundice, Lipid accumulatio... |
ORPHA:20 |
Ruvalcaba Syndrome |
|
Inguinal hernia, Kyphosis, Cryptorchidism, Scoliosis, Delayed puberty, Abnormal vertebral epiphys... |
ORPHA:3121 |
Kabuki Syndrome 2 |
|
Postnatal growth retardation, Intrauterine growth retardation, Short stature, Neonatal hypoglycemia |
OMIM:300867 |
Arthrogryposis, Distal, Type 4 |
|
Torticollis, Kyphosis, Camptodactyly of 2nd-5th fingers, Lumbar scoliosis, Distal arthrogryposis,... |
OMIM:609128 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Proximal muscle weakness in upper limbs, Scapular winging, Spinal rigidity, Hyperlordosis, Proxim... |
ORPHA:268 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Weight loss |
ORPHA:2198 |
Spondyloepiphyseal Dysplasia Congenita |
|
Back pain, Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, Spinal rigidity, Kyph... |
ORPHA:94068 |
Hereditary Central Diabetes Insipidus |
|
Growth delay, Weight loss |
ORPHA:30925 |
Chronic Granulomatous Disease |
|
Hepatomegaly, Recurrent respiratory infections, Liver abscess, Abnormality of neutrophils, Malabs... |
ORPHA:379 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Short stature, Short neck, Cryptorchidism, Kyphosis, Hernia of the abdominal wall |
ORPHA:3082 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Kyphosis, Scoliosis |
OMIM:300861 |
Celiac Disease, Susceptibility To, 1 |
|
Alopecia, Short stature, Postnatal growth retardation, Weight loss, Infertility, Delayed puberty,... |
OMIM:212750 |
Distal Triplication 15Q |
|
Corneal dystrophy, Kyphosis, Flexion contracture, Hydrocele testis, Hernia, Scoliosis, Intrauteri... |
ORPHA:314588 |
Acromesomelic Dysplasia 4 |
|
Thoracic scoliosis, Lumbar hyperlordosis, Rhizomelia, Short stature, Thoracic platyspondyly, Syno... |
OMIM:619636 |
19P13.12 Microdeletion Syndrome |
|
Aortic regurgitation, Short neck, Kyphosis, Cryptorchidism, Mitral regurgitation, Scoliosis, Intr... |
ORPHA:254346 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hepatomegaly, Abnormal circulating enzyme concentration or activity, Short stature, Hypoglycemia,... |
ORPHA:79259 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Intrauterine growth retardation, Abnormal circulating enzyme concentration or activity, Neonatal ... |
ORPHA:572798 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Short stature, Cachexia |
ORPHA:220295 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Postnatal growth retardation, Cryptorchidism, Insulin resistance, Severe intrauterine growth reta... |
ORPHA:96182 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Male infertility |
OMIM:300991 |
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Calf muscle hypertrophy, Myopathy, Increased variability in muscle fiber diameter, Pelvic girdle ... |
ORPHA:119 |
Lopes-Maciel-Rodan Syndrome |
|
Kyphosis, Scoliosis |
OMIM:617435 |
X-Linked Agammaglobulinemia |
|
Alopecia, Short stature, Weight loss, Conjunctivitis, Cellulitis, Failure to thrive |
ORPHA:47 |
Weill-Marchesani Syndrome 1 |
|
Lumbar hyperlordosis, Short stature, Cataract, Proportionate short stature, Ectopia lentis, Micro... |
OMIM:277600 |
Huntington Disease |
|
Weight loss, Decreased body mass index, Abnormal libido |
ORPHA:399 |
Huntington Disease-Like 2 |
|
Weight loss |
OMIM:606438 |
Osteogenesis Imperfecta, Type Iii |
|
Kyphosis, Disproportionate short-limb short stature, Scoliosis, Pulmonary arterial hypertension, ... |
OMIM:259420 |
Myopathy With Lactic Acidosis, Hereditary |
|
Exercise intolerance, Skeletal muscle atrophy, Rhabdomyolysis, Myopathy, Increased intramyocellul... |
OMIM:255125 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, B lymphocytopenia |
OMIM:616084 |
Alg1-Cdg |
|
Kyphosis, Scoliosis, Cardiomyopathy |
ORPHA:79327 |
Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
Lumbar hyperlordosis, Hyperlordosis, Cryptorchidism, Synophrys, Obesity, Astigmatism, Hirsutism |
OMIM:616078 |
Saethre-Chotzen Syndrome |
|
Short stature, Abnormal hair pattern, Hyperlordosis, Cryptorchidism, Low anterior hairline, Abnor... |
ORPHA:794 |
Ciliary Dyskinesia, Primary, 34 |
|
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti... |
OMIM:617091 |
Pseudoachondroplasia |
|
Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly, Disproportiona... |
OMIM:177170 |
Carney Complex |
|
Neoplasm of the stomach, Hepatocellular carcinoma, Thyroid carcinoma, Papillary thyroid carcinoma... |
ORPHA:1359 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Increased variability in muscle fiber diameter, Failure to thrive, Mitochondrial swelling |
OMIM:615595 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Decreased muscle mass, Hypogonadotropic hypogonadism, Weight loss, Infertility, Erectile dysfunct... |
ORPHA:465508 |
Hereditary Orotic Aciduria |
|
Splenomegaly, Anemia |
ORPHA:30 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Sacral dimple, Lumbar hyperlordosis, Increased intervertebral space, Hypoplasia of the odontoid p... |
ORPHA:508533 |
Thanatophoric Dysplasia |
|
Abnormal sacroiliac joint morphology, Kyphosis, Platyspondyly, Disproportionate short-limb short ... |
ORPHA:2655 |
Glycogen Storage Disease Vii |
|
Exercise intolerance, Increased muscle glycogen content, Exercise-induced myalgia, Myalgia, Incre... |
OMIM:232800 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Lumbar hyperlordosis, External genital hypoplasia, Short neck, Postnatal growth retardation, Cryp... |
ORPHA:251028 |
Desbuquois Dysplasia 2 |
|
Severe short stature, Lumbar hyperlordosis, Short neck, Postnatal growth retardation, Synophrys, ... |
OMIM:615777 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Alopecia, Premature ovarian insufficiency, Short stature, Failure to thrive in infancy, Female in... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Alopecia, Premature ovarian insufficiency, Short stature, Failure to thrive in infancy, Female in... |
ORPHA:99228 |
Monosomy X |
|
Alopecia, Premature ovarian insufficiency, Short stature, Failure to thrive in infancy, Female in... |
ORPHA:99226 |
Turner Syndrome |
|
Alopecia, Premature ovarian insufficiency, Short stature, Failure to thrive in infancy, Female in... |
ORPHA:881 |
Amyotrophic Lateral Sclerosis 21 |
|
Centrally nucleated skeletal muscle fibers, Hand muscle weakness, Shoulder girdle muscle weakness... |
OMIM:606070 |
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities |
|
Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter, Highly arched e... |
OMIM:619173 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Rhizomelia, Thoracolumbar scoliosis, Ovoid vertebral bodies, Hyperlordosis, Thoracic platyspondyl... |
OMIM:618019 |
Pelger-Huet Anomaly |
|
Kyphosis, Lower limb hypertonia, Umbilical hernia, Mild short stature, Foot dorsiflexor weakness |
OMIM:169400 |
Pseudomyxoma Peritonei |
|
Hernia, Weight loss |
ORPHA:26790 |
Familial Glucocorticoid Deficiency |
|
Ketotic hypoglycemia, Cryptorchidism, Testicular adrenal rest tumor, Hypoglycemic seizures, Azoos... |
ORPHA:361 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Hepatic calcification, Reduced carnitine O-palmitoyltransferase level, Hepatic fail... |
ORPHA:228308 |
Anterior Segment Dysgenesis 7 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... |
OMIM:269400 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Ovoid vertebral bodies, Platyspondyly, Lumbar hyperlordosis, Disproportionate short-limb short st... |
OMIM:608728 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Skeletal muscle atrophy, Inguinal hernia, Severe short stature, Congenital muscular torticollis, ... |
ORPHA:2215 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Pancreatic fibrosis, Intestinal malrotation, Malformation of the hepatic ductal pla... |
OMIM:208540 |
Spondyloepiphyseal Dysplasia Congenita |
|
Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Hypoplasia of the odontoid process, Kyp... |
OMIM:183900 |
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Male infertility, Short sperm flagella, Coiled sperm flagella |
OMIM:620197 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Hypoglycemia |
ORPHA:457279 |
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
|
Neonatal hypoglycemia |
OMIM:608624 |
Spermatogenic Failure 14 |
|
Male infertility, Azoospermia |
OMIM:615842 |
Srd5A3-Cdg |
|
Kyphosis, Abnormal sacrum morphology, Cataract |
ORPHA:324737 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Kyphosis, Neoplasm, Hypertension, Skeletal muscle atrophy |
OMIM:219080 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hand muscle atrophy, Sacral dimple, Fair hair, Alopecia, Small for gestational age, Testicular ne... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Hand muscle atrophy, Sacral dimple, Fair hair, Alopecia, Small for gestational age, Testicular ne... |
ORPHA:363958 |
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures |
|
Cryptorchidism, Hypoglycemia |
OMIM:620224 |
Opitz-Kaveggia Syndrome |
|
Sacral dimple, Lumbar hyperlordosis, Short stature, Multiple joint contractures, Inguinal hernia,... |
OMIM:305450 |
Trichodermodysplasia-Dental Alterations Syndrome |
|
Sparse scalp hair, Brittle hair, Hyperlordosis, Fine hair, Sparse or absent eyelashes, Adenoma se... |
ORPHA:3353 |
Chromosome 3Q13.31 Deletion Syndrome |
|
Kyphosis, Decreased testicular size, Cryptorchidism |
OMIM:615433 |
Glycerol Kinase Deficiency |
|
Growth delay, Cryptorchidism, Short stature, Hypoglycemia |
OMIM:307030 |
Progeroid Short Stature With Pigmented Nevi |
|
Thoracic scoliosis, Premature ovarian insufficiency, Short stature, Cataract, Lack of facial subc... |
OMIM:176690 |
Megalocornea-Intellectual Disability Syndrome |
|
Iridodonesis, Short stature, Kyphosis, Hypoplasia of the iris, Astigmatism, Scoliosis, Megalocorn... |
ORPHA:2479 |
Hirschsprung Disease |
|
Short stature, Failure to thrive in infancy, Weight loss |
ORPHA:388 |
Spermatogenic Failure, X-Linked, 4 |
|
Male infertility, Azoospermia |
OMIM:301077 |
Amoebic Keratitis |
|
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Ocular pain, Abnormal anterior ch... |
ORPHA:67043 |
Harrod Syndrome |
|
Cataract, Cryptorchidism, Kyphosis, Scoliosis, Intrauterine growth retardation |
ORPHA:2115 |
Cartilage-Hair Hypoplasia |
|
Lumbar hyperlordosis, Sparse facial hair, Sparse eyelashes, Fair hair, Sparse eyebrow, Hypoplasia... |
OMIM:250250 |
Reticular Dysgenesis |
|
Failure to thrive, Weight loss |
ORPHA:33355 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type |
|
Short stature, Kyphoscoliosis, Kyphosis, Elbow flexion contracture, Abnormal curvature of the ver... |
ORPHA:93360 |
Acute Myelomonocytic Leukemia |
|
Weight loss |
ORPHA:517 |
Micro Syndrome |
|
Cataract, Short stature, Kyphosis, Cryptorchidism, Microcornea, Scoliosis, Delayed puberty, Intra... |
ORPHA:2510 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Vertebral fusion, Biconvex vertebral bodies, Lumbar hyperlordosis, Short stature, Ovoid vertebral... |
ORPHA:93315 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Severe short stature, Abnormal dental enamel morphology, Kyphosis, Moderate postnatal growth reta... |
ORPHA:1005 |
Apolipoprotein C-Ii Deficiency |
|
Splenomegaly, Pancreatitis, Hepatomegaly |
OMIM:207750 |
Smith-Mccort Dysplasia 1 |
|
Short stature, Short neck, Hypoplasia of the odontoid process, Kyphosis, Atlantoaxial instability... |
OMIM:607326 |
Glycogen Storage Disease Ic |
|
Hepatomegaly, Cyclic neutropenia, Chronic pancreatitis, Recurrent upper respiratory tract infecti... |
OMIM:232240 |
Alexander Disease |
|
Facial palsy, Sudden cardiac death, Hyperlordosis, Short neck, Kyphosis, Bowel incontinence, Recu... |
ORPHA:58 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Cataract, Short stature, Hyperlordosis, Limb-girdle muscular dystrophy, Scoliosis, Intrauterine g... |
OMIM:615356 |
Atypical Rett Syndrome |
|
Growth delay, Kyphosis, Scoliosis |
ORPHA:3095 |
Juvenile Huntington Disease |
|
Weight loss |
ORPHA:248111 |
Generalized Glucocorticoid Resistance Syndrome |
|
Frontal balding, Precocious puberty, Oligozoospermia, Infertility, Oligomenorrhea, Ambiguous geni... |
ORPHA:786 |
Caroli Disease |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c... |
ORPHA:53035 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Reduced subcutaneous adipose tissue, Curly hair, Sacral dimple, Short neck, Hyperlordosis, Low an... |
OMIM:619950 |
Orthostatic Hypotension 1 |
|
Neonatal hypoglycemia |
OMIM:223360 |
Pituitary Dermoid And Epidermoid Cysts |
|
Oligozoospermia, Hypogonadism, Oligomenorrhea, Amenorrhea |
ORPHA:91351 |
Monosomy 9Q22.3 |
|
Odontogenic keratocysts of the jaw, Cataract, Ovarian fibroma, Rhabdomyosarcoma, Short neck, Kyph... |
ORPHA:77301 |
Shigellosis |
|
Hepatic failure, Hypoglycemia, Cholestasis |
ORPHA:810 |
Ciliary Dyskinesia, Primary, 18 |
|
Male infertility, Absent outer dynein arms, Absent inner dynein arms, Immotile sperm |
OMIM:614874 |
Mucopolysaccharidosis, Type Ii |
|
Inguinal hernia, Severe short stature, Short stature, Short neck, Kyphosis, Congestive heart fail... |
OMIM:309900 |
Immunodeficiency 31C |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an... |
OMIM:614162 |
Ciliary Dyskinesia, Primary, 14 |
|
Male infertility, Absent inner dynein arms, Abnormal axonemal organization of respiratory motile ... |
OMIM:613807 |
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Cachexia |
ORPHA:3217 |
Focal Myositis |
|
Myositis, Weight loss |
ORPHA:48918 |
Leprechaunism |
|
Hepatomegaly, Postnatal growth retardation, Insulin resistance, Hyperinsulinemia, Recurrent infan... |
ORPHA:508 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Abnormal circulating enzyme concentration or activity, Fasting hypoglycemia |
ORPHA:25 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Inguinal hernia, Cataract, Kyphosis, Microcornea, Scoliosis, Pulmonary arterial hypertension |
OMIM:616449 |
Hennekam Syndrome |
|
Benign neoplasm of the central nervous system, Recurrent respiratory infections, Malabsorption, S... |
ORPHA:2136 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Lumbar hyperlordosis, Thick hair, Short neck, Flexion contracture, Lumbar kyphosis, Macroglossia,... |
ORPHA:505248 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Recurrent pneumonia, Lymphadenopathy, I... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Recurrent pneumonia, Lymphadenopathy, I... |
OMIM:233710 |
Clark-Baraitser syndrome |
|
Macroorchidism, Kyphosis, Scoliosis |
OMIM:300602 |
Optic Atrophy 11 |
|
Facial diplegia, Increased variability in muscle fiber diameter, Fiber type grouping |
OMIM:617302 |
Ciliary Dyskinesia, Primary, 9 |
|
Male infertility, Absent outer dynein arms |
OMIM:612444 |
Stiff-Person Syndrome |
|
Proximal limb muscle stiffness, Lumbar hyperlordosis, Asymmetric limb muscle stiffness, Axial mus... |
OMIM:184850 |
Pfeiffer Syndrome |
|
Hyperlordosis, Short stature, Short neck |
ORPHA:710 |
Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Kyphosis, Scoliosis |
OMIM:300676 |
Trisomy 9P |
|
Sacral dimple, Short neck, Kyphosis, Abnormal pupil morphology, Scoliosis |
ORPHA:236 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Hip contracture, Cataract, Short stature, Bilateral cryptorchidism, Kyphosis, Synophrys, Flexion ... |
ORPHA:3042 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Short stature, Facial hypotonia, Kyphosis, Cryptorchidism, Scoliosis, Abnormality of muscle size |
ORPHA:364028 |
Congenital Erythropoietic Porphyria |
|
Hemolytic anemia, Reticulocytosis, Anisocytosis, Increased stool urobilinogen concentration, Sple... |
ORPHA:79277 |
Myasthenic Syndrome, Congenital, 19 |
|
Exercise intolerance, Increased variability in muscle fiber diameter, Facial palsy, Spinal rigidity |
OMIM:616720 |
Brachyolmia Type 3 |
|
Short neck, Kyphosis, Childhood-onset short-trunk short stature, Platyspondyly, Scoliosis |
OMIM:113500 |
Alg12-Cdg |
|
Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Cryptorchid... |
ORPHA:79324 |
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome |
|
Kyphosis |
ORPHA:77300 |
15Q14 Microdeletion Syndrome |
|
Kyphosis, Inguinal hernia, Short stature, Scoliosis |
ORPHA:261190 |
Lysosomal Acid Lipase Deficiency |
|
Failure to thrive, Cachexia, Weight loss |
ORPHA:275761 |
Acromesomelic Dysplasia 1 |
|
Lumbar hyperlordosis, Ovoid vertebral bodies, Short nail, Disproportionate short stature, Thoraco... |
OMIM:602875 |
Lateral Meningocele Syndrome |
|
Vertebral fusion, Inguinal hernia, Decreased muscle mass, Short stature, Short neck, Kyphosis, Cr... |
OMIM:130720 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Lumbar hyperlordosis, Rhizomelia, Kyphoscoliosis, Posterior subcapsular cataract, Platyspondyly, ... |
OMIM:271510 |
Cerebral Visual Impairment |
|
Neonatal hypoglycemia |
ORPHA:447788 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Short stature, Thoracolumbar scoliosis, Kyphoscoliosis, Hyperlordosis, Short neck, Thoracic platy... |
ORPHA:457395 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Recurrent pneumonia, Lymphadenopathy, I... |
OMIM:233690 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Cataract, Short stature, Abnormal dental enamel morphology, Kyphosis, Cryptorch... |
ORPHA:96169 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Inguinal hernia, Camptodactyly of finger, Highly arched eyebrow, Bowel incontinence, Hyperlordosi... |
ORPHA:261330 |
Pyruvate Carboxylase Deficiency |
|
Growth delay, Hepatomegaly, Hyperglycemia, Hypoglycemia |
ORPHA:3008 |
Weismann-Netter Syndrome |
|
Kyphosis, Severe short stature, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:3344 |
Granulomatous Disease, Chronic, X-Linked |
|
Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Atelectasis, Recurrent pneumonia, Lymph... |
OMIM:306400 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Growth delay, Weight loss |
OMIM:266600 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Nephroblastoma, Rhabdomyosarcoma, Cardiomegaly, Adrenocortical carcinoma, Exocrine ... |
ORPHA:116 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Growth delay, Intrauterine growth retardation, Jaundice, Hypoglycemia |
ORPHA:79282 |
Stiff Person Spectrum Disorder |
|
Lumbar hyperlordosis, Paraspinal muscle hypertrophy |
ORPHA:3198 |
Chondrodysplasia Punctata, Autosomal Dominant |
|
Hip contracture, Cataract, Moderate postnatal growth retardation, Knee flexion contracture, Coars... |
OMIM:118650 |
Anterior Segment Dysgenesis 2 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... |
OMIM:610256 |
Gaucher Disease, Type Iiic |
|
Splenomegaly, Pancytopenia, Cardiomegaly, Hepatomegaly |
OMIM:231005 |
Holocarboxylase Synthetase Deficiency |
|
Growth delay, Alopecia, Weight loss, Keratoconjunctivitis |
ORPHA:79242 |
Cole-Carpenter Syndrome 2 |
|
Short stature, Postnatal growth retardation, Kyphosis, Platyspondyly, Dentinogenesis imperfecta |
OMIM:616294 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Buphthalmos, Increased variability in muscle fiber diameter, Cataract, Muscular dystrophy |
OMIM:616538 |
Autosomal Recessive Ataxia, Beauce Type |
|
Skeletal muscle atrophy, Urinary incontinence, Kyphosis, Scoliosis, Lower limb muscle weakness |
ORPHA:88644 |
Central Diabetes Insipidus |
|
Failure to thrive, Weight loss |
ORPHA:178029 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Sacral dimple, Cataract, Short stature, Iris hypopigmentation, Kyphosis, Crypto... |
OMIM:610443 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Growth delay, Hepatomegaly, Hepatic failure, Hypoglycemia |
OMIM:252010 |
Congenital Disorder Of Glycosylation, Type Im |
|
Hypoketotic hypoglycemia |
OMIM:610768 |
Classic Homocystinuria |
|
Gastrointestinal hemorrhage, Cataract, Pulmonary embolism, Ectopia lentis, Kyphosis, Intracranial... |
ORPHA:394 |
Idiopathic Juvenile Osteoporosis |
|
Kyphosis, Vertebral compression fracture, Bone pain |
ORPHA:85193 |
Trisomy 20P |
|
Inguinal hernia, Camptodactyly of finger, Short neck, Kyphosis, Cryptorchidism, Abnormal form of ... |
ORPHA:261318 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Hepatomegaly, Hypoglycemia, Hepatosplenomegaly, Cholecystitis, Cholelithiasis |
OMIM:301066 |
Progressive Non-Infectious Anterior Vertebral Fusion |
|
Abnormal intervertebral disk morphology, Spinal rigidity, Kyphosis, Hemivertebrae, Bone pain, Abn... |
ORPHA:2062 |
Thanatophoric Dysplasia Type 2 |
|
Kyphosis, Platyspondyly, Short stature |
ORPHA:93274 |
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Increased variability in muscle fiber diameter, Ragged-red muscle fibers, Cataract |
ORPHA:70595 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Fatigue, Kyphosis, Scapular winging, Scoliosis |
OMIM:617061 |
Non-Acquired Panhypopituitarism |
|
Pituitary dwarfism, Short stature, Hypoglycemia, Growth delay, Delayed puberty, Decreased testicu... |
ORPHA:90695 |
Genitopalatocardiac Syndrome |
|
Congenital diaphragmatic hernia, Cryptorchidism, Kyphosis, Scoliosis, Intrauterine growth retarda... |
ORPHA:2075 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Kyphosis, Limb hypertonia |
ORPHA:500180 |
Cholera |
|
Hypoglycemia |
ORPHA:173 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Myopathy, Increased variability in muscle fiber diameter |
OMIM:604377 |
Pleural Mesothelioma |
|
Weight loss |
ORPHA:50251 |
Langer Mesomelic Dysplasia |
|
Mesomelic short stature, Lumbar hyperlordosis |
OMIM:249700 |
Spondyloarthropathy, Susceptibility To, 1 |
|
Back pain, Aortic regurgitation, Kyphosis, Enthesitis, Sacroiliac arthritis, Arrhythmia |
OMIM:106300 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Short stature, Short neck, Kyphosis, Hemivertebrae, Contracture of the proximal interphalangeal j... |
OMIM:618223 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:618948 |
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
Short stature, Hyperlordosis, Hypoplasia of the odontoid process, Irregular vertebral endplates, ... |
OMIM:226980 |
Pituitary Adenoma 4, Acth-Secreting |
|
Skeletal muscle atrophy, Kyphosis, Pituitary adenoma, Hypertension, Biconcave vertebral bodies, V... |
OMIM:219090 |
Hermansky-Pudlak Syndrome |
|
Hypopigmentation of hair, Cataract, Menometrorrhagia, Abnormal dental enamel morphology, Ocular a... |
ORPHA:79430 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Growth delay, Kyphosis, Macroglossia, Scoliosis |
ORPHA:261144 |
Pituitary Apoplexy |
|
Hypoglycemia |
ORPHA:95613 |
Alstrom Syndrome |
|
Short stature, Kyphosis, Congestive heart failure, Dilated cardiomyopathy, Hypertension, Scoliosi... |
OMIM:203800 |
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures |
|
Hypoglycemia |
OMIM:614501 |
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Hip contracture, Short stature, Kyphosis, Elbow flexion contracture, Astigmatism, Scoliosis |
OMIM:618493 |
Acro-Renal-Mandibular Syndrome |
|
Congenital diaphragmatic hernia, Short neck, Kyphosis, Hemivertebrae, Scoliosis, Intrauterine gro... |
ORPHA:958 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Hip contracture, Short neck, Kyphosis, Cryptorchidism, Elbow flexion contracture, Knee flexion co... |
OMIM:619194 |
Spondyloenchondrodysplasia |
|
Enchondroma, Short stature, Raynaud phenomenon, Kyphosis, Vasculitis, Disproportionate short-trun... |
ORPHA:1855 |
Coffin-Lowry Syndrome |
|
Skeletal muscle atrophy, Cataract, Short stature, Kyphosis, Abnormal form of the vertebral bodies... |
ORPHA:192 |
Fountain Syndrome |
|
Short stature, Kyphosis, Abnormal form of the vertebral bodies, Scoliosis, Spina bifida occulta |
ORPHA:3219 |
Shprintzen Omphalocele Syndrome |
|
Omphalocele, Lumbar hyperlordosis, Kyphosis, Scoliosis, Decreased body weight |
OMIM:182210 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Lumbar hyperlordosis, Obesity, Disproportionate short-limb short stature, Scoliosis, Anterior pol... |
OMIM:250420 |
Congenital Tufting Enteropathy |
|
Cataract, Corneal erosion, Weight loss, Punctate keratitis, Failure to thrive |
ORPHA:92050 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Cryptorchidism, Azoospermia, Decreased testicular size, Neonatal hypoglycemia |
ORPHA:90791 |
Cole-Carpenter Syndrome |
|
Short stature, Abnormal dental enamel morphology, Kyphosis, Abnormal form of the vertebral bodies... |
ORPHA:2050 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Kyphoscoliosis, Postnatal growth retardation, Kyphosis, Cryptorchidism, Hemivertebrae, Growth del... |
OMIM:301040 |
2P15P16.1 Microdeletion Syndrome |
|
Aortic regurgitation, Inguinal hernia, Camptodactyly of finger, Facial palsy, Kyphosis, Growth de... |
ORPHA:261349 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Hand muscle atrophy, Skeletal muscle atrophy, Facial palsy, Kyphosis, Scoliosis |
OMIM:211530 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Hematemesis, Esophageal varix,... |
OMIM:263200 |
Hyperlipoproteinemia, Type I |
|
Splenomegaly, Jaundice, Pancreatitis, Hepatosplenomegaly |
OMIM:238600 |
Cockayne Syndrome Type 3 |
|
Skeletal muscle atrophy, Cataract, Mild postnatal growth retardation, Kyphosis, Flexion contractu... |
ORPHA:90324 |
Mucolipidosis Type Ii |
|
Hip contracture, Inguinal hernia, Dry hair, Short stature, Diastasis recti, Postnatal growth reta... |
ORPHA:576 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Fused labia majora, Ambiguous genitalia, female, Abnormal ovarian physiology, Short stature, Hypo... |
ORPHA:90794 |
Helsmoortel-Van Der Aa Syndrome |
|
Short stature, Facial palsy, Hyperlordosis, Cryptorchidism, Obesity, Truncal obesity, Astigmatism... |
OMIM:615873 |
Cystic Echinococcosis |
|
Abnormality of the testis size, Weight loss, Ovarian cyst, Abnormality of the vertebral column, A... |
ORPHA:400 |
Menkes Disease |
|
Intrauterine growth retardation, Hypoglycemia, Prolonged neonatal jaundice |
ORPHA:565 |
Oculodentodigital Dysplasia |
|
Hypoglycemia |
ORPHA:2710 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Female infertility... |
ORPHA:572333 |
Tsh-Secreting Pituitary Adenoma |
|
Abnormal hair quantity, Decreased female libido, Hypogonadotropic hypogonadism, Female hypogonadi... |
ORPHA:91347 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Short stature, Congenital diaphragmatic hernia, Kyphosis, Cryptorchidism, Scoliosis, Camptodactyl... |
OMIM:617602 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Umbilical hernia, Hypertrichosis, Low posterior hairline, Hyperlordosis |
ORPHA:221139 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Growth delay, Pituitary dwarfism, Hypoglycemia, Prolonged neonatal jaundice |
ORPHA:226307 |
Hypercalcemia, Infantile, 1 |
|
Failure to thrive, Weight loss |
OMIM:143880 |
Acute Liver Failure |
|
Elevated hepatic transaminase, Hypoglycemia, Jaundice, Hepatitis, Hepatic necrosis, Hepatocellula... |
ORPHA:90062 |
Huntington Disease-Like 1 |
|
Weight loss |
ORPHA:157941 |
Pmm2-Cdg |
|
Pericarditis, Multiple joint contractures, Angina pectoris, Lipodystrophy, Kyphoscoliosis, Catara... |
ORPHA:79318 |
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Male infertility, Azoospermia, Absent vas deferens |
OMIM:300985 |
Vas Deferens, Congenital Bilateral Aplasia Of |
|
Male infertility, Azoospermia, Absent vas deferens |
OMIM:277180 |
Osteopetrosis, Autosomal Recessive 7 |
|
Hepatomegaly, Splenomegaly, Recurrent pneumonia, Decreased circulating total IgM, Decreased circu... |
OMIM:612301 |
Aicardi-Goutieres Syndrome 9 |
|
Weight loss, Lower limb hypertonia, Scoliosis, Left ventricular hypertrophy, Intrauterine growth ... |
OMIM:619487 |
Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Platyspondyly, Lumbar hyperlordosis, Rhizomelia, Short neck |
OMIM:612813 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Conjunctival hamartoma, Weight loss |
ORPHA:312 |
Congenital Disorder Of Glycosylation, Type Il |
|
Kyphosis, Short neck |
OMIM:608776 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Cavernous hemangioma of the face, Recurrent pneumonia, Acute myelomonocytic leukemia, Cavernous h... |
ORPHA:99646 |
Parenteral Nutrition-Associated Cholestasis |
|
Elevated hepatic transaminase, Hepatomegaly, Villous atrophy, Portal hypertension, Biliary hyperp... |
ORPHA:567983 |
Acrodermatitis Enteropathica |
|
Abnormal eyebrow morphology, Alopecia, Short stature, Corneal erosion, Weight loss, Conjunctiviti... |
ORPHA:37 |
Noonan Syndrome 14 |
|
Aortic regurgitation, Scapular winging, Short stature, Short neck, Kyphosis, Cryptorchidism, Pulm... |
OMIM:619745 |
Multiple Myeloma |
|
Increased circulating IgA level, Splenomegaly, Functional abnormality of the gastrointestinal tra... |
ORPHA:29073 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Short neck, Flexion contracture, Irregular vertebral endplates, Arthralgia, Lumbar hyperlordosis,... |
OMIM:143095 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Ventral hernia, Thoracic scoliosis, Widened atrophic scar, Sacral dimple, Inguinal hernia, Kyphos... |
ORPHA:536532 |
Jaberi-Elahi Syndrome |
|
Kyphosis, Cataract, Scoliosis |
OMIM:617988 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Abnormal sacroiliac joint morphology, Abnormal vertebral morphology, Scoliosis, Weight loss |
ORPHA:324964 |
Allergic Bronchopulmonary Aspergillosis |
|
Weight loss |
ORPHA:1164 |
Holt-Oram Syndrome |
|
Paroxysmal atrial fibrillation, First degree atrioventricular block, Kyphosis, Atrioventricular b... |
ORPHA:392 |
Acute Adrenal Insufficiency |
|
Hypoglycemia, Delayed puberty |
ORPHA:95409 |
Perlman Syndrome |
|
Cryptorchidism, Hypoglycemia |
OMIM:267000 |
Oculopharyngodistal Myopathy 1 |
|
Autophagic vacuoles, Facial palsy, Weight loss, Distal amyotrophy, Increased variability in muscl... |
OMIM:164310 |
Renal Nutcracker Syndrome |
|
Dyspareunia, Dysmenorrhea, Vulval varicose vein, Weight loss, Infertility, Varicocele |
ORPHA:71273 |
Addison Disease |
|
Type I diabetes mellitus, Primary testicular failure, Hypoglycemia, Delayed puberty |
ORPHA:85138 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Rhabdomyolysis, Weight loss |
OMIM:188580 |
Achondroplasia |
|
Lumbar hyperlordosis, Rhizomelia, Lumbar kyphosis in infancy, Spinal stenosis with reduced interp... |
OMIM:100800 |
Multiple Endocrine Neoplasia, Type I |
|
Hypoglycemia |
OMIM:131100 |
Holoprosencephaly |
|
Cryptorchidism, Diabetes mellitus, Hypoglycemia |
ORPHA:2162 |
Tetrasomy 9P |
|
Sacral dimple, Myositis, Abnormal dental enamel morphology, Short neck, Cryptorchidism, Oligozoos... |
ORPHA:3310 |
Hajdu-Cheney Syndrome |
|
Inguinal hernia, Cataract, Mitral stenosis, Short stature, Short neck, Hypoplastic 5th lumbar ver... |
ORPHA:955 |
Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
|
Lumbar hyperlordosis, Rhizomelia, Short neck |
ORPHA:171866 |
Difference Of Sex Development-Intellectual Disability Syndrome |
|
Kyphosis, Spina bifida occulta, Short neck |
ORPHA:2983 |
Renal Agenesis, Bilateral |
|
Nonketotic hypoglycemia |
ORPHA:1848 |
Sheehan Syndrome |
|
Hypoglycemia |
ORPHA:91355 |
Cockayne Syndrome B |
|
Reduced subcutaneous adipose tissue, Severe short stature, Postnatal growth retardation, Kyphosis... |
OMIM:133540 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Lumbar hyperlordosis, Progressive flexion contractures, Abnormal location of the eyebrow, Widow's... |
ORPHA:522077 |
Pontocerebellar Hypoplasia, Type 17 |
|
Kyphosis, Limb hypertonia, Intrauterine growth retardation |
OMIM:619909 |
Wolf-Hirschhorn Syndrome |
|
Sacral dimple, Congenital diaphragmatic hernia, Sclerocornea, Kyphosis, Cryptorchidism, Abnormal ... |
ORPHA:280 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Lumbar hyperlordosis, Short stature, Kyphoscoliosis, Increased intervertebral space, Irregular ve... |
OMIM:607944 |
Takayasu Arteritis |
|
Weight loss |
ORPHA:3287 |
Anaplastic Thyroid Carcinoma |
|
Abnormal skeletal muscle morphology, Weight loss |
ORPHA:142 |
Iniencephaly |
|
Omphalocele, Congenital diaphragmatic hernia, Hyperlordosis, Absent vertebra, Arthrogryposis mult... |
ORPHA:63259 |
Osteoporosis-Pseudoglioma Syndrome |
|
Iris atrophy, Cataract, Short stature, Kyphoscoliosis, Kyphosis, Platyspondyly, Scoliosis, Biconc... |
OMIM:259770 |
Perry Syndrome |
|
Weight loss |
ORPHA:178509 |
Sarcoidosis, Susceptibility To, 1 |
|
Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Abnormality of T cell physiology, Spleno... |
OMIM:181000 |
16Q24.3 Microdeletion Syndrome |
|
Kyphosis, Cryptorchidism, Dilated cardiomyopathy, Mitral regurgitation, Astigmatism, Scoliosis |
ORPHA:261250 |
Cockayne Syndrome A |
|
Reduced subcutaneous adipose tissue, Hip contracture, Cataract, Short stature, Kyphosis, Enamel h... |
OMIM:216400 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Aortic regurgitation, Corneal opacity, Ankle flexion contracture, Kyphosis, Cryptorchidism, Birth... |
ORPHA:464311 |
Deeah Syndrome |
|
Hepatomegaly, Short stature, Cryptorchidism, Intrauterine growth retardation, Neonatal hypoglycemia |
OMIM:619004 |
Lymphedema-Distichiasis Syndrome |
|
Kyphosis, Conjunctivitis, Recurrent corneal erosions, Cellulitis, Arrhythmia, Corneal ulceration |
OMIM:153400 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Synophrys, Flexion contracture, Knee flexion contracture, Arthralgia, Diaphragmatic eventration, ... |
OMIM:619503 |
2Q31.1 Microdeletion Syndrome |
|
Inguinal hernia, Short stature, Camptodactyly of finger, Short neck, Kyphosis, Cryptorchidism, Ve... |
ORPHA:251014 |
Williams Syndrome |
|
Hypoplasia of penis, Abnormal form of the vertebral bodies, Vertebral segmentation defect, Megalo... |
ORPHA:904 |
Branchiooculofacial Syndrome |
|
Cataract, Hypospadias, Facial palsy, Supernumerary nipple, Hyperlordosis, Postnatal growth retard... |
OMIM:113620 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Inguinal hernia, Kyphosis, Developmental cataract, Microcornea, Scoliosis, Pulmonary arterial hyp... |
ORPHA:464738 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Lumbar hyperlordosis, Short stature, Hypospadias, Cryptorchidism, Widow's peak, Scoliosis, Peters... |
OMIM:616975 |
Polymyositis |
|
Abnormal muscle fiber morphology, Chondrocalcinosis, Weight loss |
ORPHA:732 |
Pemphigus Vulgaris |
|
Atypical scarring of skin, Weight loss |
ORPHA:704 |
3-Methylglutaconic Aciduria, Type Viii |
|
Growth delay, Jaundice, Neonatal hypoglycemia |
OMIM:617248 |
Cystinosis, Nephropathic |
|
Male infertility, Skeletal muscle atrophy, Hypopigmentation of hair, Short stature, Failure to th... |
OMIM:219800 |
Ciliary Dyskinesia, Primary, 19 |
|
Male infertility, Absent inner and outer dynein arms |
OMIM:614935 |
Aspartylglucosaminuria |
|
Cataract, Short stature, Kyphosis, Macroglossia, Platyspondyly, Mitral regurgitation, Spondylolys... |
OMIM:208400 |
Primary Fanconi Renotubular Syndrome |
|
Growth delay, Hypoglycemia, Glycosuria |
ORPHA:3337 |
Hyperlipoproteinemia, Type Id |
|
Splenomegaly, Recurrent pancreatitis, Pancreatitis, Hepatomegaly |
OMIM:615947 |
Graves Disease, Susceptibility To, 1 |
|
Weight loss |
OMIM:275000 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Kyphosis, Scoliosis, Cryptorchidism |
ORPHA:404440 |
Marshall-Smith Syndrome |
|
Omphalocele, Thoracic scoliosis, Short stature, Kyphoscoliosis, Bilateral cryptorchidism, Hypopla... |
OMIM:602535 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Gastrointestinal hemorrhage, Angina pectoris, Cerebral hemorrhage, Kyphosis, Retinal hemorrhage, ... |
OMIM:177850 |
Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Hypoglycemia |
ORPHA:137675 |
Non-Functioning Paraganglioma |
|
Weight loss |
ORPHA:94080 |
Sponastrime Dysplasia |
|
Lumbar hyperlordosis, Rhizomelia, Cataract, Kyphoscoliosis, Small for gestational age, Microcoria... |
ORPHA:93357 |
Spondyloperipheral Dysplasia |
|
Short stature, Ovoid vertebral bodies, Short neck, Rhizomelic leg shortening, Kyphosis, Irregular... |
OMIM:271700 |
Chromosome Xq26.3 Duplication Syndrome |
|
Kyphosis, Pituitary adenoma, Arthralgia, Body odor |
OMIM:300942 |
Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Panniculitis, Weight loss |
ORPHA:86884 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Short stature, Kyphosis, Cryptorchidism, Flexion contracture, Scoliosis |
ORPHA:500055 |
Thanatophoric Dysplasia Type 1 |
|
Abnormal sacroiliac joint morphology, Platyspondyly, Kyphosis, Lethal short-limbed short stature |
ORPHA:1860 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Failure to thrive in infancy, Proportionate short stature, Weight loss |
ORPHA:171876 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Aortic regurgitation, Multiple joint contractures, Short stature, Corneal opacity, Kyphosis, Cryp... |
ORPHA:464306 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Abnormal testis morphology, Weight loss |
ORPHA:54251 |
Osteogenesis Imperfecta, Type Iv |
|
Short stature, Biconcave flattened vertebrae, Kyphosis, Scoliosis, Dentinogenesis imperfecta |
OMIM:166220 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Lumbar hyperlordosis, Facial hypotonia, Kyphoscoliosis, Large for gestational age, Sparse eyebrow... |
ORPHA:457359 |
Osteogenesis Imperfecta |
|
Cervical kyphosis, Flexion contracture, Bone pain, Abnormal form of the vertebral bodies, Arthral... |
ORPHA:666 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Omphalocele, Sacral dimple, Tricuspid regurgitation, Short stature, Short neck, Kyphosis, Cryptor... |
OMIM:616894 |
Nephroblastoma |
|
Aniridia, Weight loss |
ORPHA:654 |
Cohen Syndrome |
|
Short stature, Kyphosis, Cryptorchidism, Scoliosis, Delayed puberty, Intrauterine growth retardat... |
ORPHA:193 |
Inflammatory Bowel Disease 11 |
|
Weight loss |
OMIM:191390 |
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Large for gestational age, Sparse eyebrow, Kyphosis, Hyperlordosis, Scoliosis |
OMIM:617011 |
Neurooculorenal Syndrome |
|
Postnatal growth retardation, Cryptorchidism, Recurrent hypoglycemia |
OMIM:620305 |
Alkaptonuria |
|
Vertebral fusion, Low back pain, Diminished physical functioning, Kyphosis, Arthralgia, Thickened... |
OMIM:203500 |
Secondary Short Bowel Syndrome |
|
Growth delay, Failure to thrive, Weight loss |
ORPHA:95427 |
Weaver Syndrome |
|
Inguinal hernia, Diastasis recti, Kyphosis, Cryptorchidism, Hydrocele testis, Scoliosis, Camptoda... |
OMIM:277590 |
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies |
|
Short stature, Kyphosis, Bilateral camptodactyly, Growth delay, Scoliosis |
OMIM:619557 |
Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Sacral dimple, Short neck, Postnatal growth retardation, Kyphosis, Prominent protruding coccyx, P... |
OMIM:300966 |
Kaposi Sarcoma |
|
Weight loss |
ORPHA:33276 |
Marden-Walker Syndrome |
|
Skeletal muscle atrophy, Severe short stature, Camptodactyly of finger, Kyphosis, Abnormal form o... |
ORPHA:2461 |
Acute Promyelocytic Leukemia |
|
Metrorrhagia, Weight loss |
ORPHA:520 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Mild postnatal growth retardation, Flexion contracture, Weight loss, Enthesitis, Abnormality of t... |
ORPHA:85408 |
Nodular Non-Suppurative Panniculitis |
|
Panniculitis, Weight loss |
ORPHA:33577 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Splenomegaly, Hepatomegaly, Hamartoma, Aplasia of the epiglottis |
OMIM:617088 |
Spondylometaphyseal Dysplasia, Algerian Type |
|
Lumbar hyperlordosis, Platyspondyly, Severe short stature, Kyphoscoliosis |
OMIM:184253 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Cryptorchidism, Abnormality of the Leydig cells, Delayed puberty, Decreased testicular size, Neon... |
ORPHA:168558 |
Thymic Carcinoma |
|
Weight loss |
ORPHA:99868 |
Benign Recurrent Intrahepatic Cholestasis |
|
Weight loss |
ORPHA:65682 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Cryptorchidism, Abnormality of the Leydig cells, Delayed puberty, Decreased testicular size, Neon... |
ORPHA:289548 |
Igg4-Related Aortitis |
|
Low back pain, Weight loss |
ORPHA:449400 |
Yao Syndrome |
|
Keratoconjunctivitis sicca, Weight loss |
OMIM:617321 |
Chronic Beryllium Disease |
|
Weight loss |
ORPHA:133 |
Osteogenesis Imperfecta, Type Viii |
|
Inguinal hernia, Kyphosis, Platyspondyly, Disproportionate short-limb short stature, Scoliosis, V... |
OMIM:610915 |
Osteosarcoma |
|
Weight loss |
ORPHA:668 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Pericarditis, Kyphosis, Abnormal subcutaneous fat tissue distribution, Flexion contracture, Cardi... |
OMIM:212065 |
Lowe Oculocerebrorenal Syndrome |
|
Short stature, Camptodactyly of finger, Postnatal growth retardation, Kyphosis, Cryptorchidism, C... |
OMIM:309000 |
Frank-Ter Haar Syndrome |
|
Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Kyphosis, Developmental glaucoma, Growt... |
OMIM:249420 |
Ciliary Dyskinesia, Primary, 1 |
|
Male infertility, Absent outer dynein arms, Abnormal cornea morphology |
OMIM:244400 |
Lymphoid Interstitial Pneumonia |
|
Keratoconjunctivitis sicca, Failure to thrive, Abnormality of connective tissue, Weight loss |
ORPHA:79128 |
Smith-Lemli-Opitz Syndrome |
|
Cataract, Short stature, Rhizomelia, Abnormal dental enamel morphology, Short neck, Congenital di... |
ORPHA:818 |
Oculocerebrorenal Syndrome Of Lowe |
|
Benign neoplasm of the central nervous system, Inguinal hernia, Cataract, Short stature, Abnormal... |
ORPHA:534 |
Igg4-Related Retroperitoneal Fibrosis |
|
Low back pain, Weight loss, Hydrocele testis, Retrograde ejaculation, Impotence, Varicocele |
ORPHA:49041 |
Rheumatoid Arthritis |
|
Digital flexor tenosynovitis, Weight loss |
OMIM:180300 |
Simpson-Golabi-Behmel Syndrome |
|
Hepatoblastoma, Cryptorchidism, Hypoglycemia, Hepatomegaly |
ORPHA:373 |
Marburg Hemorrhagic Fever |
|
Orchitis, Jaundice, Hypoglycemia, Elevated hepatic transaminase |
ORPHA:99826 |
Prader-Willi Syndrome |
|
Decreased muscle mass, Short stature, Kyphosis, Cryptorchidism, Scoliosis, Delayed puberty, Intra... |
OMIM:176270 |
Distal 16P11.2 Microdeletion Syndrome |
|
Kyphosis |
ORPHA:261222 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Male infertility |
ORPHA:2239 |
Loeffler Endocarditis |
|
Left ventricular hypertrophy, Weight loss |
ORPHA:75566 |
Acrocapitofemoral Dysplasia |
|
Lumbar hyperlordosis, Short stature, Ovoid vertebral bodies, Short nail, Disproportionate short s... |
OMIM:607778 |
Holoprosencephaly 1 |
|
Short stature, Hypoglycemia |
OMIM:236100 |
Cardiofacioneurodevelopmental Syndrome |
|
Cryptorchidism, Kyphosis, Pulmonic stenosis, Camptodactyly |
OMIM:619123 |
Atelis Syndrome 2 |
|
Sacral dimple, Kyphosis, Supravalvar pulmonary stenosis, Developmental cataract, Vitreous hemorrh... |
OMIM:620185 |
Oromandibular Dystonia |
|
Torticollis, Weight loss |
ORPHA:93958 |
Polyarteritis Nodosa |
|
Weight loss |
ORPHA:767 |
Cap Polyposis |
|
Weight loss |
ORPHA:160148 |
Bullous Pemphigoid |
|
Weight loss |
ORPHA:703 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Weight loss |
ORPHA:216866 |
Ramon Syndrome |
|
Short stature, Kyphosis, Gingival fibromatosis, Telangiectasia, Axenfeld anomaly, Scoliosis |
OMIM:266270 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Weight loss |
ORPHA:103910 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Weight loss |
ORPHA:411703 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Short stature, Kyphosis, Cryptorchidism, Flexion contracture, Scoliosis, Decreased testicular size |
ORPHA:398069 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Pituitary dwarfism, Hypoglycemia, Growth delay, Delayed puberty, Decreased testicular size |
ORPHA:95494 |
Malignant Peritoneal Mesothelioma |
|
Weight loss |
ORPHA:168811 |
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Type 1 fibers relatively smaller than type 2 fibers, Facial palsy |
OMIM:619424 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Weight loss |
ORPHA:79127 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Recurrent hypoglycemia |
ORPHA:293978 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Back pain, Aortic regurgitation, Fatigue, Cataract, Torticollis, Abdominal pain, Kyphosis, Conges... |
OMIM:619475 |
Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, Short stature, Short neck, Kyphosis, Scoliosis |
ORPHA:140 |
Mend Syndrome |
|
Sacral dimple, Cataract, Short stature, Kyphosis, Cryptorchidism, Aortic valve stenosis, Anterior... |
OMIM:300960 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Kyphosis, Platyspondyly, Sclerotic vertebral body |
OMIM:618476 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Kyphosis, Hypertension |
OMIM:610475 |
Cryptogenic Organizing Pneumonia |
|
Weight loss |
ORPHA:1302 |
Stevens-Johnson Syndrome |
|
Dyspareunia, Corneal erosion, Conjunctivitis, Weight loss |
ORPHA:36426 |
Mend Syndrome |
|
Sacral dimple, Cataract, Short stature, Kyphosis, Cryptorchidism, Aortic valve stenosis, Limb hyp... |
ORPHA:401973 |
Postencephalitic Parkinsonism |
|
Kyphosis, Camptocormia |
ORPHA:97349 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Weight loss |
OMIM:613239 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Kyphosis, Short stature, Macular scar |
OMIM:239000 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Microvesicular hepatic steatosis, Hyperglycemia, Hypoglycemia, Increased hepatocellular lipid dro... |
OMIM:220111 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Weight loss |
ORPHA:2902 |
Occipital Horn Syndrome |
|
Orthostatic hypotension, Pelvic bone exostoses, Hiatus hernia, Kyphosis, Bladder carcinoma, Growt... |
OMIM:304150 |
Alveolar Echinococcosis |
|
Low back pain, Abnormal skeletal muscle morphology, Weight loss, Abnormality of the diaphragm, Ab... |
ORPHA:284 |
Al Amyloidosis |
|
Macroglossia, Autonomic erectile dysfunction, Weight loss |
ORPHA:85443 |
Turnpenny-Fry Syndrome |
|
Thoracic kyphoscoliosis, Sparse scalp hair, Lumbar hyperlordosis, Torticollis, Facial hypotonia, ... |
OMIM:618371 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Aortic regurgitation, Sacral dimple, Inguinal hernia, Short stature, Cataract, Kyphosis, Cryptorc... |
ORPHA:268261 |
Wild Type Attr Amyloidosis |
|
Weight loss |
ORPHA:330001 |
Familial Colorectal Cancer Type X |
|
Uterine neoplasm, Flexion contracture, Ovarian neoplasm, Weight loss |
ORPHA:440437 |
Alström Syndrome |
|
Thoracic scoliosis, Hypoplasia of the Leydig cells, Micropenis, Short stature, Testicular fibrosi... |
ORPHA:64 |
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Scapular winging, Abnormality of hair texture, Hyperlordosis, Synophrys, Hypoplastic sweat glands... |
ORPHA:73223 |
Costello Syndrome |
|
Short stature, Hypoglycemia |
OMIM:218040 |
Diffuse Alveolar Hemorrhage |
|
Weight loss |
ORPHA:90060 |
Wolf-Hirschhorn Syndrome |
|
Vertebral fusion, Sacral dimple, Rieger anomaly, Short stature, Decreased muscle mass, Kyphosis, ... |
OMIM:194190 |
Autosomal Recessive Robinow Syndrome |
|
Sacral dimple, Inguinal hernia, Camptodactyly of finger, Short neck, Kyphosis, Cryptorchidism, Ve... |
ORPHA:1507 |
Perry Syndrome |
|
Weight loss |
OMIM:168605 |
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:619607 |
Lynch Syndrome |
|
Ovarian neoplasm, Flexion contracture, Weight loss |
ORPHA:144 |
Intellectual Developmental Disorder, Autosomal Dominant 57 |
|
Kyphosis, Contracture of the proximal interphalangeal joint of the 4th finger, Short stature, Sco... |
OMIM:618050 |
Mosaic Trisomy 20 |
|
Vertebral fusion, Kyphosis, Cryptorchidism, Spinal canal stenosis, Fused cervical vertebrae, Vert... |
ORPHA:1724 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Neonatal hypoglycemia |
OMIM:261740 |
Beckwith-Wiedemann Syndrome |
|
Hepatoblastoma, Cryptorchidism, Neonatal hypoglycemia, Hepatomegaly |
OMIM:130650 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Kyphosis, Cryptorchidism |
OMIM:619244 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Kyphosis, Urinary incontinence, Scoliosis |
ORPHA:476126 |
Eosinophilic Gastroenteritis |
|
Weight loss |
ORPHA:2070 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Myositis, Weight loss |
ORPHA:183 |
Pyomyositis |
|
Myositis, Weight loss, Testicular teratoma |
ORPHA:764 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Decreased heart rate variability, Cryptorchidism, Kyphosis, Scoliosis, Intrauterine growth retard... |
OMIM:619005 |
Glossopharyngeal Neuralgia |
|
Abnormality of the cervical spine, Weight loss |
ORPHA:221098 |
Malignant Atrophic Papulosis |
|
Cataract, Weight loss |
ORPHA:679 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Kyphosis, Hypomimic face, Contractures of the large joints |
OMIM:617527 |
Primary Intestinal Lymphangiectasia |
|
Growth delay, Weight loss |
ORPHA:90362 |
X-Linked Intellectual Disability, Snyder Type |
|
Decreased muscle mass, Short stature, Kyphoscoliosis, Cryptorchidism, Kyphosis, Abnormality of th... |
ORPHA:3063 |
Somatomammotropinoma |
|
Fatigue, Kyphosis, Pituitary adenoma, Spinal canal stenosis, Hypertension, Mitral regurgitation, ... |
ORPHA:314769 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Omphalocele, Inguinal hernia, Severe short stature, Corneal opacity, Abnormal dental enamel morph... |
ORPHA:2273 |
Tropical Endomyocardial Fibrosis |
|
Myocardial calcification, Cachexia |
ORPHA:75565 |
Plaa-Associated Neurodevelopmental Disorder |
|
Kyphosis, Limb hypertonia, Contractures of the large joints |
ORPHA:521426 |
Mgat2-Cdg |
|
Kyphosis, Arrhythmia, Scoliosis, Reflex asystolic syncope |
ORPHA:79329 |
Ménétrier Disease |
|
Weight loss |
ORPHA:2494 |
Glucose-Galactose Malabsorption |
|
Failure to thrive, Weight loss |
ORPHA:35710 |
Giant Cell Arteritis |
|
Alopecia, Weight loss |
ORPHA:397 |
Neuroblastoma, Susceptibility To, 1 |
|
Failure to thrive, Weight loss |
OMIM:256700 |
Cono-Spondylar Dysplasia |
|
Kyphosis, Scoliosis, Short neck |
ORPHA:420794 |
Gerstmann-Straussler Disease |
|
Lower limb muscle weakness, Weight loss |
OMIM:137440 |
Acromegaly |
|
Fatigue, Kyphosis, Spinal canal stenosis, Hypertension, Mitral regurgitation, Arthralgia, Macrogl... |
ORPHA:963 |
Fatal Familial Insomnia |
|
Weight loss |
OMIM:600072 |
Refractory Celiac Disease |
|
Weight loss |
ORPHA:398063 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Weight loss, Lower-limb joint contracture, Intrauterine growth retardation, Failure to thrive, Ar... |
ORPHA:99885 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Urinary incontinence, Kyphosis, Sinus bradycardia, Astigmatism, Scoliosis |
OMIM:619482 |
Inflammatory Pseudotumor Of The Liver |
|
Weight loss |
ORPHA:90003 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Kyphosis, Hypertension |
OMIM:610489 |
1P36 Deletion Syndrome |
|
Cataract, Short stature, Camptodactyly of finger, Kyphosis, Cryptorchidism, Dilated cardiomyopath... |
ORPHA:1606 |
Hutchinson-Gilford Progeria Syndrome |
|
Absent eyebrow, Female hypogonadism, Corneal opacity, Alopecia totalis, Absence of subcutaneous f... |
ORPHA:740 |
Occipital Horn Syndrome |
|
Inguinal hernia, Femoral hernia, Scarring, Hiatus hernia, Kyphosis, Atypical scarring of skin, Pl... |
ORPHA:198 |
Medullary Thyroid Carcinoma |
|
Weight loss |
ORPHA:1332 |
Systemic Capillary Leak Syndrome |
|
Weight loss |
ORPHA:188 |
Thymic Neuroendocrine Tumor |
|
Weight loss |
ORPHA:97289 |
Juvenile Dermatomyositis |
|
Calcinosis, Myositis, Alopecia, Weight loss |
ORPHA:93672 |
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features |
|
Kyphosis, Inguinal hernia |
OMIM:609944 |
Coffin-Siris Syndrome 1 |
|
Sacral dimple, Inguinal hernia, Short stature, Congenital diaphragmatic hernia, Postnatal growth ... |
OMIM:135900 |
Thyrotoxic Periodic Paralysis |
|
Abnormal muscle fiber morphology, Rhabdomyolysis, Obesity, Weight loss, Increased intramyocellula... |
ORPHA:79102 |
Pneumocystosis |
|
Weight loss |
ORPHA:723 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Inguinal hernia, Severe short stature, Femoral hernia, Abnormal dental enamel morphology, Facial ... |
ORPHA:2658 |
Zttk Syndrome |
|
Aortic regurgitation, Short stature, Kyphosis, Flexion contracture, Hemivertebrae, Growth delay, ... |
OMIM:617140 |
Parkinson Disease 4, Autosomal Dominant |
|
Weight loss |
OMIM:605543 |
Familial Osteodysplasia, Anderson Type |
|
Kyphosis, Hypertension, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:2769 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Weight loss |
ORPHA:276621 |
Imerslund-Gräsbeck Syndrome |
|
Failure to thrive, Weight loss |
ORPHA:35858 |
Toxic Epidermal Necrolysis |
|
Corneal erosion, Abnormal vagina morphology, Conjunctivitis, Weight loss |
ORPHA:537 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Aniridia, Weight loss |
ORPHA:29072 |
Orofaciodigital Syndrome Iii |
|
Kyphosis |
OMIM:258850 |
Cleidocranial Dysplasia 1 |
|
Short stature, Kyphosis, Moderately short stature, Spondylolysis, Scoliosis, Enamel hypoplasia, S... |
OMIM:119600 |
Behçet Disease |
|
Myositis, Cataract, Orchitis, Weight loss, Keratoconjunctivitis sicca |
ORPHA:117 |
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Cryptorchidism, Kyphosis, Scoliosis, Delayed puberty |
OMIM:619718 |
Acquired Central Diabetes Insipidus |
|
Weight loss |
ORPHA:95626 |
Autosomal Recessive Spastic Paraplegia Type 35 |
|
Urinary incontinence, Bowel incontinence, Kyphosis, Lower limb hypertonia, Foot dorsiflexor weakness |
ORPHA:171629 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Kyphosis, Knee flexion contracture |
OMIM:619708 |
Rett Syndrome, Congenital Variant |
|
Kyphosis, Scoliosis |
OMIM:613454 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Weight loss |
ORPHA:139402 |
Pulmonary Alveolar Microlithiasis |
|
Gonadal calcification, Testicular microlithiasis, Decreased fertility, Weight loss |
ORPHA:60025 |
Osteootohepatoenteric Syndrome |
|
Failure to thrive, Weight loss |
OMIM:619377 |
Granulomatosis With Polyangiitis |
|
Keratitis, Conjunctivitis, Weight loss |
OMIM:608710 |
Bronchial Neuroendocrine Tumor |
|
Weight loss |
ORPHA:97287 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Left ventricular noncompaction cardiomyopathy, Kyphoscoliosis, Kyphosis, Cryptorchidism, Left ven... |
OMIM:300967 |
Neuroendocrine Tumor Of The Colon |
|
Weight loss |
ORPHA:100080 |
Hereditary Late-Onset Parkinson Disease |
|
Hypomimic face, Weight loss |
ORPHA:411602 |
Familial Pancreatic Carcinoma |
|
Back pain, Ovarian carcinoma, Weight loss |
ORPHA:1333 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Weight loss |
ORPHA:100085 |
Erdheim-Chester Disease |
|
Hypogonadotropic hypogonadism, Weight loss |
ORPHA:35687 |
Neuroendocrine Tumor Of The Rectum |
|
Weight loss |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Weight loss |
ORPHA:100082 |
Reactive Arthritis |
|
Dystrophic fingernails, Weight loss, Conjunctivitis, Enthesitis |
ORPHA:29207 |
Rat-Bite Fever |
|
Back pain, Tendonitis, Weight loss |
ORPHA:31205 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Curly hair, Lumbar hyperlordosis, Failure to thrive in infancy, Kyphoscoliosis, Proportionate sho... |
ORPHA:500150 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Growth delay, Keratoconjunctivitis sicca, Weight loss |
ORPHA:309031 |
Wrinkly Skin Syndrome |
|
Inguinal hernia, Scapular winging, Short stature, Hypoplasia of the musculature, Kyphosis, Crypto... |
OMIM:278250 |
Brucellosis |
|
Small for gestational age, Orchitis, Epididymitis, Weight loss, Sacroiliac arthritis, Failure to ... |
ORPHA:1304 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Small for gestational age, Weight loss |
ORPHA:424 |
Microphthalmia, Syndromic 1 |
|
Lumbar hyperlordosis, Hypospadias, Kyphoscoliosis, Cryptorchidism, Growth delay, Microcornea, Cil... |
OMIM:309800 |
Cdags Syndrome |
|
Kyphosis |
OMIM:603116 |
Zollinger-Ellison Syndrome |
|
Lipoma, Multiple lipomas, Weight loss |
ORPHA:913 |
Chronic Graft Versus Host Disease |
|
Alopecia, Fasciitis, Phimosis, Flexion contracture, Weight loss, Keratoconjunctivitis sicca, Nail... |
ORPHA:99921 |
Amoebiasis Due To Entamoeba Histolytica |
|
Weight loss |
ORPHA:67 |
Primrose Syndrome |
|
Hip contracture, Skeletal muscle atrophy, Short stature, Bilateral cryptorchidism, Kyphosis, Cryp... |
OMIM:259050 |
Coffin-Lowry Syndrome |
|
Inguinal hernia, Short stature, Kyphosis, Lumbar kyphosis, Mitral regurgitation, Scoliosis, Uteri... |
OMIM:303600 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Cryptorchidism, Hypoglycemia |
OMIM:201750 |
African Trypanosomiasis |
|
Alopecia, Abnormality of the menstrual cycle, Keratitis, Weight loss, Impotence, Conjunctivitis, ... |
ORPHA:3385 |
Aicardi-Goutieres Syndrome 7 |
|
Intrauterine growth retardation, Limb hypertonia, Weight loss |
OMIM:615846 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Weight loss |
ORPHA:747 |
Klatskin Tumor |
|
Weight loss |
ORPHA:99978 |
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Kyphosis, Abnormal dental enamel morphology |
ORPHA:85199 |
Q Fever |
|
Weight loss |
ORPHA:781 |
Ppoma |
|
Subcutaneous lipoma, Weight loss |
ORPHA:97278 |
Cerebrocostomandibular Syndrome |
|
Kyphosis, Short stature, Intrauterine growth retardation |
ORPHA:1393 |
Nocardiosis |
|
Keratitis, Weight loss, Conjunctivitis, Cellulitis |
ORPHA:31204 |
Sarcoidosis |
|
Alopecia, Cataract, Scarring, Facial palsy, Abnormal reproductive system morphology, Weight loss,... |
ORPHA:797 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Cataract, Anterior chamber flare, Weight loss, Posterior synechiae of the anterior chamber, Iris ... |
ORPHA:91500 |
Somatostatinoma |
|
Subcutaneous lipoma, Weight loss |
ORPHA:97283 |
Neuroendocrine Tumor Of Stomach |
|
Weight loss |
ORPHA:100075 |
Granulomatosis With Polyangiitis |
|
Prostatitis, Weight loss |
ORPHA:900 |
Grfoma |
|
Subcutaneous lipoma, Weight loss |
ORPHA:97261 |
Vipoma |
|
Subcutaneous lipoma, Weight loss |
ORPHA:97282 |
Familial Gestational Hyperthyroidism |
|
Weight loss |
ORPHA:99819 |
Postinfectious Vasculitis |
|
Orchitis, Weight loss |
ORPHA:48435 |
Glucagonoma |
|
Subcutaneous lipoma, Weight loss |
ORPHA:97280 |
Castleman Disease |
|
Weight loss |
ORPHA:160 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Disproportionate short-trunk ... |
OMIM:300106 |
Gallbladder Neuroendocrine Tumor |
|
Weight loss |
ORPHA:100086 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Myositis, Keratoconjunctivitis sicca, Abnormality of the extraocular muscles, Weight loss |
ORPHA:79078 |
Viss Syndrome |
|
Exostosis of the external auditory canal, Epidural hemorrhage, Inguinal hernia, Short stature, Ky... |
OMIM:619472 |
Cystic Fibrosis |
|
Male infertility, Failure to thrive |
OMIM:219700 |
Choreoacanthocytosis |
|
Peroneal muscle atrophy, Weight loss, Myopathy, Distal amyotrophy, Muscle fiber atrophy |
ORPHA:2388 |
Ileal Neuroendocrine Tumor |
|
Weight loss |
ORPHA:100078 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Anoperineal fistula, Weight loss |
OMIM:301074 |
Pancreatoblastoma |
|
Weight loss |
ORPHA:677 |
Igg4-Related Kidney Disease |
|
Prostatitis, Weight loss |
ORPHA:449395 |
Tropical Pancreatitis |
|
Weight loss |
ORPHA:103918 |
Malt Lymphoma |
|
Weight loss |
ORPHA:52417 |
Yunis-Varon Syndrome |
|
Cataract, Anterior concavity of thoracic vertebrae, Sclerocornea, Kyphosis, Cryptorchidism, Heart... |
OMIM:216340 |
Kikuchi-Fujimoto Disease |
|
Alopecia, Weight loss |
ORPHA:50918 |
Goodpasture Syndrome |
|
Weight loss |
OMIM:233450 |
Premature Chromatid Separation Trait |
|
|
OMIM:176430 |