Li-Fraumeni Syndrome 2 |
|
Glioma, Breast carcinoma, Stomach cancer, Meningioma, Sarcoma |
OMIM:609265 |
Reticulum Cell Sarcoma |
|
Neoplasm, Sarcoma |
OMIM:267730 |
Myofibromatosis, Infantile, 1 |
|
Fibroma, Myofibromatosis |
OMIM:228550 |
Ewing Sarcoma |
|
Ewing sarcoma |
OMIM:612219 |
Cerebral Sarcoma |
|
Neoplasm, Fibrosarcoma |
OMIM:117600 |
Nthl1-Related Attenuated Familial Adenomatous Polyposis |
|
Adenomatous colonic polyposis, Neoplasm of the rectum, Breast carcinoma, Duodenal adenocarcinoma,... |
ORPHA:454840 |
Muir-Torre Syndrome |
|
Malignant genitourinary tract tumor, Ovarian neoplasm, Benign gastrointestinal tract tumors, Brea... |
OMIM:158320 |
Melanoma-Pancreatic Cancer Syndrome |
|
Oropharyngeal squamous cell carcinoma, Melanoma, Pancreatic squamous cell carcinoma, Squamous cel... |
OMIM:606719 |
Enchondromatosis, Multiple, Ollier Type |
|
Hemangioma, Multiple enchondromatosis, Chondrosarcoma |
OMIM:166000 |
Apc-Related Attenuated Familial Adenomatous Polyposis |
|
Adrenocortical adenoma, Odontoma, Adrenocortical carcinoma, Lipoma, Multiple gastric polyps, Duod... |
ORPHA:247806 |
Mismatch Repair Cancer Syndrome 1 |
|
Adenomatous colonic polyposis, Plexiform neurofibroma, Medulloblastoma, Neuroblastoma, Pleomorphi... |
OMIM:276300 |
Multiple Fibroadenomas Of The Breast |
|
Fibroadenoma of the breast |
OMIM:615554 |
Hereditary Mixed Polyposis Syndrome |
|
Adenomatous colonic polyposis, Neoplasm of the rectum, Thyroid carcinoma, Prostate cancer, Hyperp... |
ORPHA:157794 |
Sarcoma, Synovial |
|
Synovial sarcoma |
OMIM:300813 |
Alveolar Soft Part Sarcoma |
|
Alveolar soft part sarcoma |
OMIM:606243 |
Familial Adenomatous Polyposis 1 |
|
Adenomatous colonic polyposis, Medulloblastoma, Hepatoblastoma, Multiple gastric polyps, Fibroade... |
OMIM:175100 |
Punctate Palmoplantar Keratoderma Type 1 |
|
Esophageal neoplasm, Hodgkin lymphoma, Breast carcinoma, Stomach cancer, Prostate cancer, Melanom... |
ORPHA:79501 |
Desmoid Disease, Hereditary |
|
Desmoid tumors, Colon cancer, Colorectal polyposis, Breast carcinoma |
OMIM:135290 |
Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy, Sarcoma |
ORPHA:66661 |
Rhabdoid Tumor Predisposition Syndrome 2 |
|
Neoplasm of the central nervous system, Carcinoma |
OMIM:613325 |
Chondrosarcoma |
|
Chondrosarcoma |
OMIM:215300 |
Chondrosarcoma, Extraskeletal Myxoid |
|
Chondrosarcoma |
OMIM:612237 |
Familial Adenomatous Polyposis |
|
Cholangiocarcinoma, Pancreatitis, Hepatoblastoma, Stomach cancer, Soft tissue neoplasm, Odontoma,... |
ORPHA:733 |
Undifferentiated Pleomorphic Sarcoma |
|
Soft tissue sarcoma, Abnormality of the peritoneum |
ORPHA:2023 |
Colorectal Cancer, Susceptibility To, 12 |
|
Colorectal polyposis, Carcinoma |
OMIM:615083 |
Li-Fraumeni Syndrome |
|
Neoplasm of the pancreas, Lung adenocarcinoma, Choriocarcinoma, Breast carcinoma, Prostate cancer... |
OMIM:151623 |
Multiple Enchondromatosis, Maffucci Type |
|
Hemangioma, Multiple enchondromatosis, Chondrosarcoma |
OMIM:614569 |
Nut Midline Carcinoma |
|
Ewing sarcoma, Neoplasm, Neuroblastoma, Oropharyngeal squamous cell carcinoma, Pancreatic squamou... |
ORPHA:443167 |
Hydrocephalus, Congenital, 1 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:236600 |
Erythroleukemia, Familial, Susceptibility To |
|
Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia, Refractory anemia with ringed sideroblasts,... |
OMIM:133180 |
Paraneoplastic Pemphigus |
|
Thymoma, B-cell lymphoma, Sarcoma |
ORPHA:63455 |
Acquired Ichthyosis |
|
Neoplasm, Multiple myeloma, Sarcoma, Lymphoma |
ORPHA:454 |
Ollier Disease |
|
Chondrosarcoma, Neoplasm, Lymphangioma, Anemia, Hemangioma, Multiple enchondromatosis, Sarcoma, V... |
ORPHA:296 |
Juvenile Polyposis Syndrome |
|
Multiple gastric polyps, Intussusception, Duodenal adenocarcinoma, Hematochezia, Colon cancer, Re... |
OMIM:174900 |
Attenuated Familial Adenomatous Polyposis |
|
Adenomatous colonic polyposis, Papilloma, Large intestinal polyposis, Duodenal polyposis, Adenoca... |
ORPHA:220460 |
Hydrocephalus With Cerebellar Agenesis |
|
Hydrocephalus |
OMIM:307010 |
Dermatofibrosarcoma Protuberans |
|
Fibrosarcoma, Neoplasm of the skin |
ORPHA:31112 |
Maffucci Syndrome |
|
Chondrosarcoma, Pituitary adenoma, Ovarian neoplasm, Parathyroid adenoma, Breast carcinoma, Exost... |
ORPHA:163634 |
Megalencephaly, Autosomal Dominant |
|
Hydrocephalus |
OMIM:155350 |
Polymerase Proofreading-Related Adenomatous Polyposis |
|
Adenomatous colonic polyposis, Neoplasm of the rectum, Breast carcinoma, Endometrial carcinoma, A... |
ORPHA:447877 |
Mantle Cell Lymphoma |
|
B-cell lymphoma, Lymphadenopathy, Abnormality of the gastrointestinal tract, Splenomegaly |
ORPHA:52416 |
Chromosome 8Q12.1-Q21.2 Deletion Syndrome |
|
Hydrocephalus |
OMIM:600257 |
Sacral Agenesis With Vertebral Anomalies |
|
Abnormal vertebral morphology, Absence of the sacrum |
OMIM:615709 |
Lichen Sclerosus Et Atrophicus |
|
Squamous cell carcinoma, Carcinoma |
OMIM:151590 |
Desmoplastic Small Round Cell Tumor |
|
Neoplasm of the pancreas, Ileus, Ovarian neoplasm, Hepatomegaly, Neoplasm of the central nervous ... |
ORPHA:83469 |
Mutyh-Related Attenuated Familial Adenomatous Polyposis |
|
Adenomatous colonic polyposis, Large intestinal polyposis, Adenocarcinoma of the colon, Rectal po... |
ORPHA:247798 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615938 |
Craniofacial Conodysplasia |
|
Hydrocephalus |
ORPHA:85168 |
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Hydrocephalus, Thoracolumbar kyphosis, Kyphoscoliosis |
OMIM:236660 |
Progressive Osseous Heteroplasia |
|
Sarcoma |
ORPHA:2762 |
Gastrointestinal Stromal Tumor |
|
Neoplasm of the colon, Neoplasm of the rectum, Esophageal neoplasm, Gastrointestinal stroma tumor... |
ORPHA:44890 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Abnormal vertebral morphology, Hydrocephalus, Ventriculomegaly |
OMIM:618709 |
Neuroendocrine Neoplasm Of Appendix |
|
Ovarian neoplasm, Hepatomegaly, Chronic noninfectious lymphadenopathy, Intestinal carcinoid, Aden... |
ORPHA:100079 |
Immunodeficiency 16 |
|
Kaposi's sarcoma, Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly |
OMIM:615593 |
Fetal Cytomegalovirus Syndrome |
|
Anemia, Hepatomegaly, Splenomegaly |
ORPHA:294 |
Infantile Myofibromatosis |
|
Neoplasm of the pancreas, Tracheoesophageal fistula, Neoplasm of the lung, Gingival fibromatosis,... |
ORPHA:2591 |
Rhabdoid Tumor |
|
Neoplasm of the liver, Renal neoplasm, Neoplasm of the central nervous system, Thrombocytopenia, ... |
ORPHA:69077 |
Immunodeficiency 84 |
|
B-cell lymphoma, Perianal abscess, B lymphocytopenia, Splenomegaly |
OMIM:619437 |
Hypereosinophilic Syndrome, Idiopathic |
|
Myeloproliferative disorder, Eosinophilia, Hepatomegaly, Splenomegaly |
OMIM:607685 |
Papilloma Of Choroid Plexus |
|
Hydrocephalus, Choroid plexus papilloma |
ORPHA:2807 |
Liposarcoma |
|
Sarcoma |
ORPHA:69078 |
Neural Tube Defects, Susceptibility To |
|
Myelomeningocele, Hydrocephalus, Anencephaly, Spina bifida occulta, Absence of the sacrum, Asymme... |
OMIM:182940 |
Large Congenital Melanocytic Nevus |
|
Neoplasm, Cutaneous melanoma, Rhabdomyosarcoma, Sarcoma, Neoplasm of the skin |
ORPHA:626 |
Hydrocephalus, Autosomal Dominant |
|
Hydrocephalus, Dandy-Walker malformation |
OMIM:123155 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Hepatomegaly, Splenomegaly |
ORPHA:2274 |
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia |
|
Unilateral vestibular schwannoma, Carcinoma |
OMIM:603641 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:615937 |
Gardner Syndrome |
|
Hepatoblastoma, Adrenocortical adenoma, Odontoma, Small intestine carcinoid, Adrenocortical carci... |
ORPHA:79665 |
Tyrosinemia Type 1 |
|
Hepatocellular carcinoma, Hepatomegaly, Splenomegaly, Acute hepatic failure |
ORPHA:882 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Multiple myeloma, Hemophagocytosis, Hepatic failure, T-cell lymphoma, Pancytopenia, Burkitt lymph... |
ORPHA:158057 |
Pineocytoma |
|
Hydrocephalus, Increased CSF protein |
ORPHA:251912 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
B-cell lymphoma, Hepatomegaly, Breast carcinoma, Splenomegaly, Lymphoma, Lymphadenopathy |
ORPHA:86893 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Normal pressure hydrocephalus, Ventriculomegaly |
OMIM:611808 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hepatomegaly, Lymphocytosis, Splenomegaly, Lymphoproliferative disorder, Follicular hyperplasia, ... |
OMIM:614470 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Splenomegaly, Myelodysplasia, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, A... |
ORPHA:231401 |
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Hydrocephalus, Dandy-Walker malformation |
ORPHA:1538 |
Beemer Lethal Malformation Syndrome |
|
Hydrocephalus |
OMIM:209970 |
Colorectal Cancer, Susceptibility To, 10 |
|
Endometrial carcinoma, Colorectal polyposis, Carcinoma |
OMIM:612591 |
Li-Fraumeni Syndrome |
|
Neoplasm of the rectum, Ovarian neoplasm, Stomach cancer, Non-Hodgkin lymphoma, Choroid plexus ca... |
ORPHA:524 |
Port-Wine Nevi-Mega Cisterna Magna-Hydrocephalus Syndrome |
|
Hydrocephalus |
ORPHA:2703 |
Exostoses, Multiple, Type Ii |
|
Chondrosarcoma, Scapular exostoses, Multiple exostoses, Rib exostoses, Pelvic bone exostoses |
OMIM:133701 |
Exostoses, Multiple, Type I |
|
Chondrosarcoma, Scapular exostoses, Multiple exostoses, Rib exostoses, Pelvic bone exostoses |
OMIM:133700 |
Masa Syndrome |
|
Kyphosis, Hydrocephalus, Ventriculomegaly, Hyperlordosis |
OMIM:303350 |
Yellow Nail Syndrome |
|
Neoplasm, Renal neoplasm, Neoplasm of the lung, Biliary tract neoplasm, Sarcoma, Hypoplasia of ly... |
ORPHA:662 |
Progressive Familial Intrahepatic Cholestasis |
|
Neoplasm, Malabsorption, Hepatomegaly, Splenomegaly, Cholestasis, Jaundice |
ORPHA:172 |
Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Hydrocephalus, Holoprosencephaly, Ventriculomegaly, Hydranencephaly, Dandy-Walker malformation |
OMIM:617967 |
Desmoid Tumor |
|
Malabsorption, Desmoid tumors, Intestinal obstruction, Fibroma, Intestinal polyposis, Gastrointes... |
ORPHA:873 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hydrocephalus |
OMIM:166990 |
Hodgkin Lymphoma |
|
Neoplasm, Hepatomegaly, Splenomegaly, Lymphoma, Lymphadenopathy |
ORPHA:98293 |
Gray Platelet Syndrome |
|
Myelodysplasia, Thrombocytopenia, Splenomegaly |
ORPHA:721 |
Band Heterotopia |
|
Hydrocephalus, Ventriculomegaly |
OMIM:600348 |
Immunodeficiency 76 |
|
B-cell lymphoma, Colitis, Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Lympha... |
OMIM:619164 |
Alpha-Heavy Chain Disease |
|
Malabsorption, Hepatomegaly, Splenomegaly, Lymphoma, Abnormality of the small intestine, Anemia, ... |
ORPHA:100025 |
Chudley-Mccullough Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:604213 |
Atypical Teratoid Rhabdoid Tumor |
|
Hydrocephalus |
ORPHA:99966 |
Alpha-Thalassemia |
|
Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Myelodysplasia, Microcytic a... |
ORPHA:846 |
Mastocytosis |
|
Hepatomegaly, Splenomegaly, Mastocytosis, Sarcoma, Chronic leukemia, Gastrointestinal hemorrhage,... |
ORPHA:98292 |
Dandy-Walker Syndrome |
|
Hydrocephalus, Dilated fourth ventricle |
OMIM:220200 |
Adenocarcinoma Of The Anal Canal |
|
Neoplasm of the rectum, Neoplasm of the liver, Intestinal bleeding, Anal canal adenocarcinoma, Ne... |
ORPHA:424016 |
Fanconi Anemia, Complementation Group R |
|
Hydrocephalus |
OMIM:617244 |
Ovarian Fibrothecoma |
|
Diffuse leiomyomatosis, Fibrosarcoma, Peritonitis, Ovarian fibroma, Ascites |
ORPHA:314478 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
B-cell lymphoma, Hodgkin lymphoma, Splenomegaly, Lymphoproliferative disorder, Mediastinal lympha... |
OMIM:300853 |
Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Splenomegaly, Acute myelomonocytic leukemia, Abnormal macrophage morphology, ... |
ORPHA:2585 |
Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
Acromesomelic Dysplasia, Grebe Type |
|
Sarcoma |
ORPHA:2098 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly |
ORPHA:46532 |
Werner Syndrome |
|
Neoplasm, Acral lentiginous melanoma, Ovarian neoplasm, Thyroid carcinoma, Renal neoplasm, Cutane... |
ORPHA:902 |
Fried Syndrome |
|
Hydrocephalus, Scoliosis |
ORPHA:85335 |
Retinoblastoma |
|
Ewing sarcoma, Retinoblastoma, Cleft palate, Lymphoma, Osteosarcoma, Leukemia, Pinealoma |
OMIM:180200 |
Squamous Cell Carcinoma, Head And Neck |
|
Squamous cell carcinoma |
OMIM:275355 |
Achondroplasia |
|
Spinal stenosis with reduced interpedicular distance, Hydrocephalus, Lumbar hyperlordosis, Lumbar... |
OMIM:100800 |
Chronic Myeloid Leukemia |
|
Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal granulocyte morphology, Thrombo... |
ORPHA:521 |
Acquired Idiopathic Sideroblastic Anemia |
|
Anemia of inadequate production, Granulocytopenia, Hepatomegaly, Neutropenia, Leukocytosis, Splen... |
ORPHA:75564 |
Follicular Lymphoma |
|
Splenomegaly, Mediastinal lymphadenopathy, Lymphoma, Abnormality of the peritoneum, Lymphadenopathy |
ORPHA:545 |
Hemoglobin H Disease |
|
Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin |
OMIM:613978 |
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Hydrocephalus |
ORPHA:1008 |
Kleeblattschaedel |
|
Hydrocephalus |
OMIM:148800 |
Metatropic Dysplasia |
|
Kyphosis, Hydrocephalus, Scoliosis, Abnormal form of the vertebral bodies, Abnormal intervertebra... |
ORPHA:2635 |
Pettigrew Syndrome |
|
Hydrocephalus, Scoliosis, Ventriculomegaly, Dandy-Walker malformation |
OMIM:304340 |
Alpha-1-Antitrypsin Deficiency |
|
Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Elevated hepatic transaminase, Gastric varix |
OMIM:613490 |
Edinburgh Malformation Syndrome |
|
Hydrocephalus |
OMIM:129850 |
Epilepsy, Pyridoxine-Dependent |
|
Hydrocephalus |
OMIM:266100 |
Developmental And Epileptic Encephalopathy 36 |
|
Hydrocephalus, Scoliosis |
OMIM:300884 |
Biemond Syndrome Ii |
|
Hydrocephalus |
OMIM:210350 |
Myelofibrosis |
|
Myeloproliferative disorder, Splenomegaly |
OMIM:254450 |
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects |
|
Myelomeningocele, Thoracolumbar scoliosis, Hydrocephalus, Spina bifida occulta |
OMIM:183802 |
Immunodeficiency 104 |
|
Gastroesophageal reflux, Hepatomegaly, Splenomegaly, T lymphocytopenia, Lymphadenopathy |
OMIM:608971 |
Lung Cancer |
|
Lung adenocarcinoma, Non-small cell lung carcinoma, Alveolar cell carcinoma |
OMIM:211980 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly |
OMIM:206400 |
Holoprosencephaly 5 |
|
Hydrocephalus, Alobar holoprosencephaly, Holoprosencephaly, Syntelencephaly, Semilobar holoprosen... |
OMIM:609637 |
Primary Sclerosing Cholangitis |
|
Cholelithiasis, Cholangiocarcinoma, Hepatomegaly, Pancreatitis, Cholestasis, Chronic hepatic fail... |
ORPHA:171 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Hydrocephalus, Ventriculomegaly |
OMIM:614830 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Neutropenia in presence of anti-neutropil antibodies, Fluctuating splenomegaly, Autoimmune thromb... |
OMIM:619220 |
Classic Mycosis Fungoides |
|
Cutaneous T-cell lymphoma, Hepatomegaly, Splenomegaly, Lymphoma, Abnormal lymphocyte morphology, ... |
ORPHA:2584 |
Lymphoproliferative Syndrome 2 |
|
Hodgkin lymphoma, Hepatomegaly, Hemophagocytosis, Splenomegaly, Lymphoproliferative disorder, Hep... |
OMIM:615122 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:613154 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatomegaly, Splenomegaly, Elevated hepatic transaminase, Hepatic fibrosis, Hepatic steatosis |
OMIM:614480 |
Immunodeficiency, Common Variable, 2 |
|
Neoplasm, Hepatomegaly, Splenomegaly, Follicular hyperplasia, Lymphoma, Lymphadenopathy |
OMIM:240500 |
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
High palate, Hepatosplenomegaly, Fibroma, Microcytic anemia, Lymphadenopathy |
OMIM:619750 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Hydrocephalus, Kyphoscoliosis |
OMIM:300886 |
Developmental And Epileptic Encephalopathy 49 |
|
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:617281 |
Papilloma Of Choroid Plexus |
|
Hydrocephalus, Choroid plexus papilloma |
OMIM:260500 |
Vacterl Association With Hydrocephalus |
|
Abnormal vertebral morphology, Hydrocephalus, Abnormality of the vertebral column, Aqueductal ste... |
OMIM:276950 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hodgkin lymphoma, Hepatomegaly, Coombs-positive hemolytic anemia, Splenomegaly, Autoimmune thromb... |
OMIM:619375 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hepatomegaly, Splenomegaly |
OMIM:619175 |
Gastrointestinal Stromal Tumor |
|
Intestinal obstruction, Neurofibromas, Dysphagia, Gastrointestinal stroma tumor |
OMIM:606764 |
Portal Hypertension, Noncirrhotic, 2 |
|
Hepatomegaly, Splenomegaly, Hepatocellular carcinoma, Nodular regenerative hyperplasia of liver, ... |
OMIM:619463 |
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked |
|
Hydrocephalus |
OMIM:300864 |
Proteus Syndrome |
|
Lymphangioma, Lipoma, Splenomegaly, Hemangioma, Multiple lipomas |
OMIM:176920 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Malabsorption, Hepatomegaly, Splenomegaly, Cirrhosis, Biliary tract abnormality, Elevated hepatic... |
ORPHA:79301 |
Portal Hypertension, Noncirrhotic, 1 |
|
Hepatomegaly, Splenomegaly, Elevated hepatic transaminase, Esophageal varix, Portal hypertension |
OMIM:617068 |
Cronkhite-Canada Syndrome |
|
Neoplasm, Malabsorption, Hepatomegaly, Stomach cancer, Splenomegaly, Furrowed tongue, Intestinal ... |
ORPHA:2930 |
Terminal Osseous Dysplasia |
|
Fibroma, Cleft palate |
OMIM:300244 |
Hemoglobin D Disease |
|
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... |
ORPHA:90039 |
Immunodeficiency 64 |
|
B-cell lymphoma, Splenomegaly, Cervical lymphadenopathy, Increased proportion autoreactive unresp... |
OMIM:618534 |
Essential Thrombocythemia |
|
Myelodysplasia, Acute leukemia, Abnormal platelet morphology, Splenomegaly |
ORPHA:3318 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Autoimmune h... |
ORPHA:444463 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Multiple lipomas, Abnormality of the lymphatic system, Bil... |
ORPHA:1414 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Hydrocephalus |
OMIM:258320 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Hepatomegaly, Splenomegaly, Increased proportion autoreactive unresponsive CD21-/low B cells, Lym... |
OMIM:615559 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Hepatomegaly, Lymphocytosis, Splenomegaly |
OMIM:606445 |
Sea-Blue Histiocyte Disease |
|
Sea-blue histiocytosis, Splenomegaly, Cirrhosis, Elevated circulating aspartate aminotransferase ... |
OMIM:269600 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly |
OMIM:183350 |
Hydrocephalus, Congenital Communicating, 1 |
|
Ventriculomegaly, Communicating hydrocephalus |
OMIM:618667 |
Pleuropulmonary Blastoma |
|
Pleuropulmonary blastoma, Rhabdomyosarcoma, Medulloblastoma |
OMIM:601200 |
Classic Hodgkin Lymphoma |
|
Neoplasm, Hepatomegaly, Splenomegaly, Lymphoma, Bone marrow hypocellularity, Lymphadenopathy |
ORPHA:391 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic... |
OMIM:603902 |
Schnitzler Syndrome |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Lymphoma, Anemia, Lymphadenopathy |
ORPHA:37748 |
Acalvaria |
|
Hydrocephalus, Spina bifida, Holoprosencephaly |
ORPHA:945 |
Frontal Encephalocele |
|
Hydrocephalus, Spina bifida, Encephalocele |
ORPHA:1931 |
Gist-Plus Syndrome |
|
Intestinal polyposis, Intussusception, Gastrointestinal stroma tumor |
OMIM:175510 |
Methylmalonic Acidemia With Homocystinuria |
|
Hydrocephalus |
ORPHA:26 |
Monosomy 22 |
|
High palate, Aplasia of the thymus, Hepatosplenomegaly, Meningioma, Hypochromic microcytic anemia... |
ORPHA:96123 |
Hyperbilirubinemia, Shunt, Primary |
|
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Reticulocytosis, Jaundice, Erythroid... |
OMIM:237800 |
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy |
|
Testicular neoplasm, Sarcoma, Neoplasm of the breast, Neoplasm of the thyroid gland |
ORPHA:457059 |
Milroy Disease |
|
Angiosarcoma, Neoplasm of the skin |
ORPHA:79452 |
Tuberous Sclerosis 2 |
|
Optic nerve glioma, Subependymal nodules, Subungual fibromas, Cortical tubers, Renal angiomyolipo... |
OMIM:613254 |
Retinoblastoma |
|
Ewing sarcoma, Retinoblastoma, Glioma, Cleft palate, Melanoma, Rhabdomyosarcoma, Lymphoma, Osteos... |
ORPHA:790 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Hydrocephalus, Occipital encephalocele, Ventriculomegaly |
ORPHA:324416 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Myeloproliferative disorder, Thrombocytopenia, Abnormal... |
ORPHA:3226 |
Acute Panmyelosis With Myelofibrosis |
|
Lymphocytosis, Splenomegaly, Acute myelomonocytic leukemia, Pancytopenia, Bone marrow hypocellula... |
ORPHA:86843 |
1Q21.1 Microduplication Syndrome |
|
Hydrocephalus |
ORPHA:250994 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Recurrent pancreatitis, Splenomegaly |
OMIM:118830 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thromb... |
OMIM:615285 |
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis |
|
Hydrocephalus, Short neck, Sacral dimple |
ORPHA:1516 |
Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Kyphosis, Hydrocephalus, Scoliosis |
ORPHA:2181 |
Gómez-López-Hernández Syndrome |
|
Hydrocephalus |
ORPHA:1532 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Splenomegaly, B Acute Lymphoblast... |
OMIM:619824 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hepatomegaly, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, Choles... |
OMIM:620010 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Intrahepatic cholestasis, Fat ma... |
OMIM:601847 |
Congenital Hydrocephalus |
|
Hydrocephalus, Colpocephaly, Ventriculomegaly |
ORPHA:2185 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Splenomegaly, Lymphoproliferative disorder, Chronic lymphatic leukemia, Autoimmune hemolytic anem... |
ORPHA:90033 |
Hepatoportal Sclerosis |
|
Intrahepatic portal vein sclerosis, Abnormality of the hepatic vasculature, Periportal fibrosis, ... |
ORPHA:64743 |
Hydrolethalus Syndrome 2 |
|
Hydrocephalus, Anencephaly, Ventriculomegaly |
OMIM:614120 |
Cole-Carpenter Syndrome 1 |
|
Hydrocephalus, Scoliosis, Vertebral compression fracture, Communicating hydrocephalus |
OMIM:112240 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Hydrocephalus |
OMIM:619470 |
Alexander Disease |
|
Hydrocephalus, Increased CSF protein |
OMIM:203450 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Hydrocephalus, Occipital encephalocele |
ORPHA:352682 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Recurrent tonsillitis, Splenomegaly, Microcytic anemia, Lymphadenopathy |
OMIM:618852 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Burkitt lymphoma, Neutropenia, Hepatomegaly, Lymphocytosis, Hemophagocytosis, Hepatic failure, Sp... |
OMIM:308240 |
Cholestasis-Lymphedema Syndrome |
|
Malabsorption, Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Neonatal cho... |
OMIM:214900 |
Gamma-Heavy Chain Disease |
|
Hepatomegaly, Splenomegaly, Anemia, Autoimmune thrombocytopenia, Lymphadenopathy, Dysphagia, Auto... |
ORPHA:100026 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Hydrocephalus, Short neck |
ORPHA:2183 |
Immunodeficiency 54 |
|
Hepatomegaly, Splenomegaly, Lymphoproliferative disorder, Lymphadenopathy, Reduced natural killer... |
OMIM:609981 |
Carney Triad |
|
Gastrointestinal stroma tumor, Adrenocortical adenoma, Pheochromocytoma, Paraganglioma, Mediastin... |
ORPHA:139411 |
Lymphoproliferative Syndrome 1 |
|
B-cell lymphoma, Hodgkin lymphoma, Hepatomegaly, Splenomegaly, Lymphoproliferative disorder, Leuk... |
OMIM:613011 |
6P22 Microdeletion Syndrome |
|
Hydrocephalus, Short neck |
ORPHA:251046 |
Paragangliomas 4 |
|
Glomus jugular tumor, Neoplasm, Neuroblastoma, Gastrointestinal stroma tumor, Paraganglioma of he... |
OMIM:115310 |
Meige Disease |
|
Lymph node hypoplasia, Angiosarcoma, Absence of lymph node germinal center |
ORPHA:90186 |
Immunodeficiency 36 |
|
B-cell lymphoma, Lymphopenia, Enlarged tonsils, Splenomegaly, B lymphocytopenia, Chronic lymphati... |
OMIM:616005 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Histiocytoma, Osteosarcoma, Fibrosarcoma |
OMIM:112250 |
Multiple Endocrine Neoplasia, Type Iv |
|
Pituitary adenoma, Parathyroid adenoma, Carcinoid tumor, Renal angiomyolipoma, Pancreatic endocri... |
OMIM:610755 |
Gorlin Syndrome |
|
Hydrocephalus, Hemivertebrae, Vertebral fusion, Scoliosis, Vertebral wedging |
ORPHA:377 |
Papillary Tumor Of The Pineal Region |
|
Hydrocephalus, Increased CSF protein |
ORPHA:251915 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Multiple myeloma, Hepatomegaly, Neutrophilia, Lymphadenopathy, Abnormal mast cell morphology, Spl... |
ORPHA:98849 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly |
ORPHA:231393 |
Primary Myelofibrosis |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Hemangioma, Hepatosplenom... |
ORPHA:824 |
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia |
|
Hydrocephalus, Kyphoscoliosis |
OMIM:600991 |
Thanatophoric Dysplasia Type 2 |
|
Kyphosis, Hydrocephalus, Holoprosencephaly, Platyspondyly, Ventriculomegaly, Encephalocele |
ORPHA:93274 |
Distal 7Q11.23 Microduplication Syndrome |
|
Hydrocephalus, Frontal encephalocele |
ORPHA:261102 |
Carney-Stratakis Syndrome |
|
Gastrointestinal stroma tumor, Paraganglioma, Intestinal obstruction, Dysphagia, Gastrointestinal... |
ORPHA:97286 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Splenomegaly, Elevated circulating aspartate aminotransferase concentration, Cholestasis, Hepatic... |
OMIM:619658 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Hemivertebrae, Hydrocephalus, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:2180 |
Turcot Syndrome With Polyposis |
|
Melena, Hepatoblastoma, Soft tissue neoplasm, Hematochezia, Basal cell carcinoma, Intestinal poly... |
ORPHA:99818 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Hydrocephalus, Scoliosis, Ventriculomegaly |
OMIM:618577 |
Blackfan-Diamond Anemia |
|
Increased mean corpuscular volume, Malignant genitourinary tract tumor, High palate, Neutropenia,... |
ORPHA:124 |
Temple Syndrome |
|
Hydrocephalus, Scoliosis |
OMIM:616222 |
Sézary Syndrome |
|
Cutaneous T-cell lymphoma, Hepatomegaly, Splenomegaly, Lymphoma, Abnormal lymphocyte morphology, ... |
ORPHA:3162 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Hemophagocytosis, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia, Lymphadenopa... |
OMIM:603552 |
Red Cell Phospholipid Defect With Hemolysis |
|
Reticulocytosis, Intermittent jaundice, Splenomegaly |
OMIM:179700 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Poikilocytosis, Anemia |
OMIM:615234 |
Pontocerebellar Hypoplasia, Type 15 |
|
Hydrocephalus |
OMIM:619302 |
Melanosis, Neurocutaneous |
|
Hydrocephalus, Choroid plexus papilloma, Dandy-Walker malformation |
OMIM:249400 |
Immunodeficiency 69 |
|
Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytosis, Pancytopenia, Anemia |
OMIM:618963 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Abnormal sacrum morphology, Hydrocephalus, Abnormal form of the vertebral bodies |
ORPHA:93262 |
Aicardi-Goutieres Syndrome 4 |
|
CSF lymphocytic pleiocytosis, Hydrocephalus, Ventriculomegaly |
OMIM:610333 |
Splenoportal Vascular Anomalies |
|
Splenomegaly, Cirrhosis, Hepatic fibrosis, Ascites, Anomalous splenoportal venous system |
OMIM:271500 |
Vitamin K Antagonist Embryofetopathy |
|
Myelomeningocele, Hydrocephalus, Short neck, Punctate vertebral calcifications |
ORPHA:1914 |
Thanatophoric Dysplasia |
|
Kyphosis, Hydrocephalus, Platyspondyly, Ventriculomegaly, Abnormal sacroiliac joint morphology |
ORPHA:2655 |
Diencephalic Syndrome |
|
Hydrocephalus |
ORPHA:1672 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, Elevat... |
OMIM:619868 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Colitis, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Anemia, Thrombocytopenia, Lymphadeno... |
OMIM:613101 |
Biemond Syndrome Type 2 |
|
Hydrocephalus |
ORPHA:141333 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Esophageal varix, Jaundice |
ORPHA:75234 |
Cowden Syndrome |
|
High palate, Furrowed tongue, Enlarged polycystic ovaries, Meningioma, Neoplasm of the thyroid gl... |
ORPHA:201 |
Autoimmune Hemolytic Anemia |
|
Abnormal leukocyte morphology, Hemolytic anemia, Lymphoma, Splenomegaly |
ORPHA:98375 |
Hemochromatosis, Type 2B |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Hepatic fibrosis, Anemia |
OMIM:613313 |
Neurofibromatosis Type 1 |
|
Neoplasm, Chronic myelogenous leukemia, Plexiform neurofibroma, Pheochromocytoma, Multiple lipoma... |
ORPHA:636 |
Multiple Endocrine Neoplasia Type 4 |
|
Pituitary growth hormone cell adenoma, Thymoma, Adrenocortical adenoma, Neuroendocrine neoplasm, ... |
ORPHA:276152 |
Craniotelencephalic Dysplasia |
|
Hydrocephalus, Frontal encephalocele, Arrhinencephaly |
ORPHA:1528 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Malabsorption, Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Intrahepatic... |
OMIM:602347 |
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Hydrocephalus, Anterior encephalocele |
OMIM:614195 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Hydrocephalus |
OMIM:304100 |
Rhabdomyosarcoma 2 |
|
Alveolar rhabdomyosarcoma |
OMIM:268220 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Splenomegaly, Abnormal B cell count, Anemia, Lymphadenopathy |
ORPHA:100024 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatomegaly, Hepatic failure, Splenomegaly, Iron deficiency anemia, Elevated hepatic transaminas... |
OMIM:616278 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatosple... |
OMIM:616860 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Diffuse leiomyomatosis, Esophageal neoplasm, Uterine neoplasm, Gastroesophageal reflux, Morpholog... |
ORPHA:1018 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis... |
OMIM:615631 |
Mend Syndrome |
|
Kyphosis, Hydrocephalus, Dandy-Walker malformation |
OMIM:300960 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Abnormal vertebral morphology, Hydrocephalus, Abnormality of the vertebral column |
OMIM:314390 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Hydrocephalus, Scoliosis |
ORPHA:99947 |
Chromosome 17P13.1 Deletion Syndrome |
|
Hydrocephalus, Short neck |
OMIM:613776 |
Palmoplantar Carcinoma, Multiple Self-Healing |
|
Squamous cell carcinoma, Carcinoma |
OMIM:615225 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Cholelithiasis, Anemia of inadequate production, Splenomegaly, Reticulocytosis, Jaundice |
OMIM:224100 |
Mental Retardation, Buenos Aires Type |
|
Cuboid-shaped thoracolumbar vertebral bodies, Hydrocephalus |
OMIM:249630 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:610293 |
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Hydrocephalus, Aqueductal stenosis, Holoprosencephaly |
ORPHA:2182 |
Crouzon Syndrome With Acanthosis Nigricans |
|
Hydrocephalus |
OMIM:612247 |
Budd-Chiari Syndrome |
|
Malabsorption, Hepatomegaly, Acute hepatic failure, Splenomegaly, Cirrhosis, Peritonitis, Cholecy... |
ORPHA:131 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Hydrocephalus, Scoliosis |
OMIM:617542 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Kyphosis, Hydrocephalus, Platyspondyly, Lumbar hyperlordosis |
OMIM:616482 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Hydrocephalus, Hydranencephaly, Ventriculomegaly, Dandy-Walker malformation |
OMIM:225790 |
Lissencephaly 5 |
|
Hydrocephalus, Occipital encephalocele |
OMIM:615191 |
Common Variable Immunodeficiency |
|
Anal atresia, Lymphopenia, Splenomegaly, Gastrointestinal stroma tumor, Autoimmune thrombocytopen... |
ORPHA:1572 |
Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Hydrocephalus |
OMIM:618302 |
Pfapa Syndrome |
|
Malabsorption, Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:42642 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Kyphosis, Hydrocephalus, Platyspondyly, Ventriculomegaly |
OMIM:618476 |
Temple Syndrome |
|
Hydrocephalus, Scoliosis |
ORPHA:254516 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:602501 |
Congenital Toxoplasmosis |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:858 |
Lysosomal Acid Lipase Deficiency |
|
Hepatomegaly, Hepatic failure, Steatorrhea, Elevated circulating aspartate aminotransferase conce... |
OMIM:278000 |
Central Neurocytoma |
|
Hydrocephalus, Abnormal lateral ventricle morphology |
ORPHA:73256 |
Radial Aplasia, X-Linked |
|
Hydrocephalus |
OMIM:312190 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Hydrocephalus, Abnormality of the vertebral column, Ventriculomegaly |
OMIM:109120 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Abnormal vertebral morphology, Hemivertebrae, Hydrocephalus, Holoprosencephaly |
ORPHA:77298 |
Familial Thrombocytosis |
|
Chronic myelogenous leukemia, Splenomegaly, Thrombocytosis, Myelodysplasia, Acute myeloid leukemia |
ORPHA:71493 |
Bresek Syndrome |
|
Hemivertebrae, Hydrocephalus, Scoliosis |
ORPHA:85284 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Hydrocephalus, Abnormal intervertebral disk morphology |
ORPHA:2701 |
Intellectual Developmental Disorder, Autosomal Dominant 35 |
|
Hydrocephalus, Scoliosis, Ventriculomegaly |
OMIM:616355 |
Dandy-Walker Malformation With Postaxial Polydactyly |
|
Hydrocephalus, Dilated fourth ventricle, Dandy-Walker malformation |
OMIM:220220 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Hepatic failure, Splenomegaly, Cirrhosis, Steatorrhea, Elevated hepatic transaminas... |
OMIM:613812 |
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity |
|
Hydrocephalus |
OMIM:615599 |
Ornithine Transcarbamylase Deficiency |
|
Pyloric stenosis, Splenomegaly, Hepatic failure |
ORPHA:664 |
Hemochromatosis, Type 1 |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Elevated hepatic transaminase, A... |
OMIM:235200 |
Central Precocious Puberty |
|
Hydrocephalus |
ORPHA:759 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Hydrocephalus |
ORPHA:83473 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Hydrocephalus |
OMIM:616521 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Splenomegaly, Anemia, Anisocytosis, Poikilocytosis, Congenital hemolytic anemia, Chronic hemolyti... |
ORPHA:766 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Hydrocephalus, Anencephaly, Ventriculomegaly, Occipital encephalocele, Dandy-Walker malformation |
OMIM:615287 |
Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius |
|
Hydrocephalus, Aqueductal stenosis |
OMIM:307000 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
ORPHA:163961 |
Congenital Muscular Dystrophy, Fukuyama Type |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:272 |
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Hydrocephalus |
ORPHA:397951 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Hepatomegaly, Micronodular cirrhosis, Jaundice, Splenomegaly, Malformation of the hepatic ductal ... |
OMIM:619849 |
Wolman Disease |
|
Hepatomegaly, Splenomegaly, Hepatic failure, Steatorrhea, Esophageal varix, Anemia, Bone-marrow f... |
ORPHA:75233 |
Lymphedema-Distichiasis Syndrome |
|
Fibrosarcoma, Cleft palate |
ORPHA:33001 |
Autoimmune Lymphoproliferative Syndrome |
|
Abnormal proportion of CD8-positive T cells, Hepatomegaly, Gastritis, Non-Hodgkin lymphoma, Basal... |
ORPHA:3261 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Hydrocephalus, Ventriculomegaly, Dandy-Walker malformation |
OMIM:613153 |
Hydrocephalus, Normal-Pressure, 1 |
|
Normal pressure hydrocephalus |
OMIM:236690 |
Autoimmune Lymphoproliferative Syndrome |
|
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Coombs-positive hemolytic ane... |
OMIM:601859 |
Diabetic Embryopathy |
|
Vertebral segmentation defect, Spinal dysraphism, Hydrocephalus, Abnormal sacrum morphology |
ORPHA:1926 |
Intellectual Developmental Disorder, Autosomal Dominant 36 |
|
Hydrocephalus, Scoliosis, Ventriculomegaly |
OMIM:616362 |
Omenn Syndrome |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Eosinophilia, Lymphoma, Abnormal lymphocyte morphology,... |
ORPHA:39041 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Hydrocephalus, Platyspondyly |
OMIM:300863 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Neoplasm, Hepatomegaly, Splenomegaly, Thrombocytopenia, Hemolytic anemia, Lymphadenopathy |
ORPHA:169090 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Hydrocephalus, Choroid plexus cyst, Platyspondyly, Ventriculomegaly, Vertebral wedging |
OMIM:617866 |
Greig Cephalopolysyndactyly Syndrome |
|
Hydrocephalus |
ORPHA:380 |
Mucopolysaccharidosis, Type Vii |
|
Kyphosis, Hydrocephalus, Anterior beaking of lumbar vertebrae, Platyspondyly, Short neck, Scolios... |
OMIM:253220 |
Beta-Thalassemia Intermedia |
|
Cholelithiasis, Decreased liver function, Anemia of inadequate production, Decreased mean corpusc... |
ORPHA:231222 |
Hydrocephalus With Associated Malformations |
|
Hydrocephalus |
OMIM:236640 |
Krabbe Disease |
|
Hydrocephalus, Increased CSF protein |
OMIM:245200 |
L1 Syndrome |
|
Hydrocephalus, Aqueductal stenosis |
ORPHA:275543 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Giant cell hepatitis, Hepatomegaly, Hepatic failure, Splenomegaly, Cirrhosis, Steatorrhea, Elevat... |
OMIM:607765 |
Autoimmune Hepatitis |
|
Viral hepatitis, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Sclerosing cholangitis, Fulmi... |
ORPHA:2137 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Lipoma, Thyroid carcinoma, Pancreatitis, Parathyroid adenoma, Nephroblastoma, Testicular neoplasm... |
ORPHA:99880 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Hydrocephalus |
OMIM:300558 |
Ritscher-Schinzel Syndrome 1 |
|
Hemivertebrae, Hydrocephalus, Dandy-Walker malformation |
OMIM:220210 |
Nephronophthisis 19 |
|
Hepatomegaly, Splenomegaly, Cholestasis, Hepatic fibrosis, Bile duct proliferation |
OMIM:616217 |
Crouzon Syndrome |
|
Abnormal sacrum morphology, Hydrocephalus |
ORPHA:207 |
Gaucher Disease, Type I |
|
Multiple myeloma, Hepatomegaly, Splenomegaly, Pancytopenia, Anemia, Thrombocytopenia, Hypersplenism |
OMIM:230800 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Abnormality of the lymph ... |
OMIM:612840 |
Polycythemia Vera |
|
Hepatomegaly, Splenomegaly, Myelodysplasia, Portal hypertension, Gastrointestinal hemorrhage, Acu... |
ORPHA:729 |
Nasu-Hakola Disease |
|
Hydrocephalus, Ventriculomegaly |
ORPHA:2770 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Kyphosis, Hydrocephalus, Thoracic scoliosis |
OMIM:603387 |
Achondroplasia |
|
Spinal canal stenosis, Kyphosis, Hydrocephalus, Lumbar hyperlordosis, Cervical spinal canal steno... |
ORPHA:15 |
Pallister-Hall-Like Syndrome |
|
Hydrocephalus, Occipital encephalocele |
OMIM:241800 |
Caroli Disease |
|
Cholelithiasis, Cholangiocarcinoma, Hepatomegaly, Leukocytosis, Splenomegaly, Cirrhosis, Cholesta... |
ORPHA:53035 |
Muscle-Eye-Brain Disease |
|
Hydrocephalus, Meningocele, Holoprosencephaly |
ORPHA:588 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Hepatic failure, Splenomegaly, Cirrhosis, Sclerosing cholangitis, Cholestasis, Duct... |
OMIM:617394 |
Hemoglobin E Disease |
|
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... |
ORPHA:2133 |
Axial Mesodermal Dysplasia Spectrum |
|
Vertebral segmentation defect, Hydrocephalus, Short neck, Scoliosis, Abnormal form of the vertebr... |
ORPHA:1834 |
Parathyroid Carcinoma |
|
Lipoma, Thyroid carcinoma, Pancreatitis, Parathyroid carcinoma, Nephroblastoma, Testicular neopla... |
ORPHA:143 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Hepatomegaly, Hepatic failure, Splenomegaly, Steatorrhea, Elevated hepatic transaminase, Intrahep... |
OMIM:235555 |
Hydrocephalus, Endocardial Fibroelastosis, And Cataracts |
|
Communicating hydrocephalus |
OMIM:600559 |
Spherocytosis, Type 5 |
|
Spherocytosis, Abnormal leukocyte count, Splenomegaly, Hemolytic anemia, Abnormal platelet count,... |
OMIM:612690 |
Osteogenic Sarcoma |
|
Osteosarcoma, Retinoblastoma |
OMIM:259500 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular volume, Hepatomegaly, Splenomegaly, Anisopoikilocytosis, Acanthocytosi... |
OMIM:616689 |
Greig Cephalopolysyndactyly Syndrome |
|
Hydrocephalus, Ventriculomegaly |
OMIM:175700 |
3C Syndrome |
|
Kyphosis, Hydrocephalus, Hemivertebrae, Short neck, Scoliosis, Ventriculomegaly, Dandy-Walker mal... |
ORPHA:7 |
Infantile Sialic Acid Storage Disease |
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Hydrocephalus |
OMIM:269920 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
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Hydrocephalus, Lumbar hyperlordosis, Dilated fourth ventricle, Ventriculomegaly, Occipital enceph... |
ORPHA:370959 |
Thanatophoric Dysplasia Type 1 |
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Kyphosis, Hydrocephalus, Platyspondyly, Ventriculomegaly, Abnormal sacroiliac joint morphology |
ORPHA:1860 |
Cole-Carpenter Syndrome 2 |
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Kyphosis, Hydrocephalus, Platyspondyly |
OMIM:616294 |
Erythrocytosis, Familial, 8 |
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Cholelithiasis, Nonspherocytic hemolytic anemia, Splenomegaly, Polycythemia, Normocytic anemia, C... |
OMIM:222800 |
Nephronophthisis 18 |
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Hydrocephalus |
OMIM:615862 |
Felty Syndrome |
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Hepatomegaly, Splenomegaly, Lymphoma, Abnormal lymphocyte morphology, Thrombocytopenia, Neutropen... |
ORPHA:47612 |
Osteopetrosis, Autosomal Recessive 4 |
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Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Anemia, Thrombocytopenia |
OMIM:611490 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
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Crohn's disease, Lymphopenia, Recurrent tonsillitis, Splenomegaly, Hepatosplenomegaly, Lymphadeni... |
OMIM:618935 |
Optic Pathway Glioma |
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Hydrocephalus |
ORPHA:2086 |
Thanatophoric Dysplasia, Type I |
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Platyspondyly, Hydrocephalus, Short neck, Severe platyspondyly |
OMIM:187600 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
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Hydrocephalus |
OMIM:613603 |
Sacral Defect With Anterior Meningocele |
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Myelomeningocele, Anterior sacral meningocele, Hydrocephalus, Hemisacrum, Back pain, Meningocele,... |
OMIM:600145 |
Polycythemia Vera |
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Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Thrombocytosis, ... |
OMIM:263300 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
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Hydrocephalus, Platyspondyly |
ORPHA:163966 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
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Anemia of inadequate production, Exocrine pancreatic insufficiency, Hepatomegaly, Splenomegaly, S... |
OMIM:612714 |
Coach Syndrome 2 |
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Hydrocephalus |
OMIM:619111 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
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Hydrocephalus |
OMIM:601794 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
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Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Coombs-positive hemolytic ane... |
OMIM:603909 |
Chiari Malformation Type Ii |
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Myelomeningocele, Hydrocephalus, Spina bifida, Cervical myelopathy |
OMIM:207950 |
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
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Hydrocephalus, Colpocephaly, Ventriculomegaly, Scoliosis |
OMIM:619833 |
Aminopterin/Methotrexate Embryofetopathy |
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Hydrocephalus, Holoprosencephaly, Anencephaly, Spinal dysraphism, Meningocele, Encephalocele |
ORPHA:1908 |
Ventriculomegaly With Defects Of The Radius And Kidney |
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Hydrocephalus, Ventriculomegaly |
OMIM:602200 |
Joubert Syndrome 14 |
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Hydrocephalus, Dandy-Walker malformation, Encephalocele |
OMIM:614424 |
Immunodeficiency 97 With Autoinflammation |
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Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Colitis, Hemophagocytosis, Spl... |
OMIM:619802 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
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Hydrocephalus |
ORPHA:171839 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
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Cholelithiasis, Nonspherocytic hemolytic anemia, Splenomegaly, Normocytic anemia, Cholecystitis, ... |
OMIM:235700 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
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Cholelithiasis, Hepatomegaly, Splenomegaly, Cirrhosis, Fat malabsorption, Jaundice, Intrahepatic ... |
OMIM:211600 |
Multiple Sulfatase Deficiency |
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Hydrocephalus, Hypoplastic vertebral bodies, Ventriculomegaly, Increased CSF protein |
OMIM:272200 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
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Colitis, Splenomegaly, Lymphoproliferative disorder, Atrophic gastritis, Autoimmune thrombocytope... |
OMIM:614700 |
Meckel Syndrome, Type 4 |
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Hydrocephalus, Anencephaly, Meningocele, Encephalocele, Dandy-Walker malformation |
OMIM:611134 |
Omenn Syndrome |
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Hepatomegaly, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocytopenia, B l... |
OMIM:603554 |
Adams-Oliver Syndrome 5 |
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Right ventricular hypertrophy, Splenomegaly, Esophageal varix, Cavernous hemangioma, Hypersplenism |
OMIM:616028 |
Meckel Syndrome, Type 3 |
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Hydrocephalus, Occipital encephalocele, Dandy-Walker malformation |
OMIM:607361 |
Pelvis-Shoulder Dysplasia |
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Hydrocephalus, Lumbar hyperlordosis, Abnormal form of the vertebral bodies, Hydranencephaly, Prom... |
ORPHA:2839 |
Craniofacial Dyssynostosis With Short Stature |
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Hydrocephalus, Ventriculomegaly |
OMIM:218350 |
Focal Facial Dermal Dysplasia Type Iv |
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Hydrocephalus |
ORPHA:398189 |
Joubert Syndrome |
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Hydrocephalus, Scoliosis, Abnormal form of the vertebral bodies, Encephalocele |
ORPHA:475 |
Cole-Carpenter Syndrome |
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Kyphosis, Scoliosis, Abnormal form of the vertebral bodies, Communicating hydrocephalus |
ORPHA:2050 |
Aase-Smith Syndrome I |
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Hydrocephalus, Dandy-Walker malformation |
OMIM:147800 |
Fanconi Anemia, Complementation Group B |
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Abnormal vertebral morphology, Hydrocephalus, Short neck, Ventriculomegaly |
OMIM:300514 |
Waldenström Macroglobulinemia |
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Malabsorption, Hepatomegaly, Splenomegaly, Normocytic anemia, Lymphoma, Abnormality of neutrophil... |
ORPHA:33226 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
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Hydrocephalus |
OMIM:615181 |
Pyruvate Kinase Deficiency Of Red Cells |
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Cholelithiasis, Hepatomegaly, Splenomegaly, Decreased hemoglobin concentration, Cholecystitis, Ch... |
OMIM:266200 |
Fish-Eye Disease |
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Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:79292 |
Triploidy |
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Hydrocephalus, Short neck, Meningocele, Holoprosencephaly |
ORPHA:3376 |
1Q44 Microdeletion Syndrome |
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Hydrocephalus, Scoliosis, Ventriculomegaly |
ORPHA:238769 |
Williams-Beuren Region Duplication Syndrome |
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Hydrocephalus, Ventriculomegaly |
OMIM:609757 |
Edinburgh Malformation Syndrome |
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Hydrocephalus |
ORPHA:1895 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
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Crohn's disease, Lymphopenia, Hepatomegaly, Splenomegaly, Atrophic gastritis, Autoimmune thromboc... |
OMIM:616100 |
Kaposiform Lymphangiomatosis |
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Papilloma, Lymphangioma, Splenomegaly, Hepatosplenomegaly, Abnormal spleen morphology, Abnormalit... |
ORPHA:464329 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
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Cholelithiasis, Nonspherocytic hemolytic anemia, Splenomegaly, Spontaneous hemolytic crises, Impa... |
OMIM:613470 |
Czeizel-Losonci Syndrome |
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Myelomeningocele, Hydrocephalus, Spina bifida occulta, Thoracolumbar scoliosis, Spina bifida |
ORPHA:2437 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
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Hydrocephalus, Ventriculomegaly |
OMIM:615630 |
Genitopalatocardiac Syndrome |
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Kyphosis, Hydrocephalus, Scoliosis |
ORPHA:2075 |
Multiple Endocrine Neoplasia Type 1 |
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Pituitary growth hormone cell adenoma, Thymoma, Melena, Intestinal carcinoid, Pituitary prolactin... |
ORPHA:652 |
Autoinflammation With Arthritis And Dyskeratosis |
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Hepatomegaly, Splenomegaly, Hypereosinophilia, Laryngeal papilloma, Autoimmune hemolytic anemia |
OMIM:617388 |
Methylcobalamin Deficiency Type Cble |
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Hydrocephalus, Scoliosis, Ventriculomegaly |
ORPHA:2169 |
Emanuel Syndrome |
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Hydrocephalus, Kyphoscoliosis, Dandy-Walker malformation, Scoliosis, Ventriculomegaly, Sacral dimple |
ORPHA:96170 |
Iniencephaly |
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Myelomeningocele, Hydrocephalus, Holoprosencephaly, Anencephaly, Hyperlordosis, Spinal dysraphism... |
ORPHA:63259 |
Joubert Syndrome With Ocular Defect |
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Abnormal vertebral morphology, Hydrocephalus, Scoliosis, Encephalocele |
ORPHA:220493 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
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Hydrocephalus, Scoliosis |
OMIM:615249 |
Vacterl With Hydrocephalus |
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Hydrocephalus, Aqueductal stenosis, Hemivertebrae, Arrhinencephaly, Abnormal form of the vertebra... |
ORPHA:3412 |
Aicardi Syndrome |
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Lipoma, Hiatus hernia, Hepatoblastoma, Teratoma, Cleft palate, Hemangioma, Metastatic angiosarcom... |
OMIM:304050 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
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Spinal canal stenosis, Hydrocephalus, Cervical spinal canal stenosis, Scoliosis, Hyperlordosis, C... |
OMIM:616007 |
Hemangioblastoma |
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Hydrocephalus |
ORPHA:252054 |
Spherocytosis, Type 1 |
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Cholelithiasis, Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis, Jaundice |
OMIM:182900 |
Tuberous Sclerosis Complex |
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Subependymal nodules, Pituitary adenoma, Cortical tubers, Parathyroid adenoma, Carcinoid tumor, P... |
ORPHA:805 |
Overhydrated Hereditary Stomatocytosis |
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Hepatomegaly, Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis, Jaundice |
OMIM:185000 |
Glycogen Storage Disease Ixc |
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Hepatomegaly, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Elevated hepatic trans... |
OMIM:613027 |
Hyper-Igd Syndrome |
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Neutrophilia, Leukocytosis, Splenomegaly, Renal angiomyolipoma, Hepatosplenomegaly, Lymphadenitis... |
OMIM:260920 |
Overhydrated Hereditary Stomatocytosis |
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Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co... |
ORPHA:3203 |
Hb Bart'S Hydrops Fetalis |
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Hydrocephalus |
ORPHA:163596 |
Dominant Beta-Thalassemia |
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Decreased mean corpuscular volume, Splenomegaly, Extramedullary hematopoiesis, Cirrhosis, Chronic... |
ORPHA:231226 |
X-Linked Lymphoproliferative Disease |
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