| Chemodectoma, Intraabdominal, With Cutaneous Angiolipomas |
|
Retroperitoneal chemodectomas, Chemodectoma, Cutaneous angiolipomas |
OMIM:118350 |
| Paragangliomas 7 |
|
Pheochromocytoma, Paraganglioma |
OMIM:618475 |
| Paraganglioma And Gastric Stromal Sarcoma |
|
Neoplasm of the gastrointestinal tract, Paraganglioma |
OMIM:606864 |
| Paragangliomas 5 |
|
Paraganglioma |
OMIM:614165 |
| Carcinoid Tumors, Intestinal |
|
Intestinal carcinoid |
OMIM:114900 |
| Asperger Syndrome, X-Linked, Susceptibility To, 2 |
|
Impaired ability to form peer relationships, Stereotypy, Impaired use of nonverbal behaviors |
OMIM:300497 |
| Asperger Syndrome, X-Linked, Susceptibility To, 1 |
|
Impaired ability to form peer relationships, Stereotypy, Impaired use of nonverbal behaviors |
OMIM:300494 |
| Asperger Syndrome, Susceptibility To, 1 |
|
Impaired ability to form peer relationships, Stereotypy, Impaired use of nonverbal behaviors |
OMIM:608638 |
| Asperger Syndrome, Susceptibility To, 2 |
|
Impaired ability to form peer relationships, Stereotypy, Impaired use of nonverbal behaviors |
OMIM:608631 |
| Insulinoma Tumor Suppressor Gene Locus |
|
Insulinoma |
OMIM:606960 |
| Schwannomatosis 2 |
|
Schwannoma, Spinal cord tumor |
OMIM:615670 |
| Neurofibromatosis-Pheochromocytoma-Duodenal Carcinoid Syndrome |
|
Pheochromocytoma, Carcinoid tumor, Neurofibromas |
OMIM:162240 |
| Drug Metabolism, Poor, Cyp2D6-Related |
|
Neoplasm |
OMIM:608902 |
| Adamantinoma Of Long Bones |
|
Neoplasm |
OMIM:102660 |
| Cancer, Familial, With In Vitro Radioresistance |
|
Neoplasm |
OMIM:114450 |
| Multiple Self-Healing Squamous Epithelioma, Susceptibility To |
|
Neoplasm |
OMIM:132800 |
| Nasopharyngeal Carcinoma, Susceptibility To, 2 |
|
Neoplasm |
OMIM:161550 |
| Nthl1-Related Attenuated Familial Adenomatous Polyposis |
|
Ovarian cyst, Non-Hodgkin lymphoma, Basal cell carcinoma, Neoplasm of the rectum, Endometrial car... |
ORPHA:454840 |
| Ewing Sarcoma |
|
Ewing sarcoma |
OMIM:612219 |
| Reticulum Cell Sarcoma |
|
Neoplasm, Sarcoma |
OMIM:267730 |
| Muir-Torre Syndrome |
|
Laryngeal carcinoma, Renal neoplasm, Salivary gland neoplasm, Endometrial carcinoma, Neoplasm of ... |
ORPHA:587 |
| Testicular Torsion |
|
Torsion of appendix of testis, Testicular torsion |
OMIM:187400 |
| Colorectal Cancer, Susceptibility To, 10 |
|
Colorectal polyposis, Endometrial carcinoma, Carcinoma |
OMIM:612591 |
| Schwannomatosis 1 |
|
Schwannoma, Meningioma, Spinal cord tumor |
OMIM:162091 |
| Cowden-Like syndrome |
|
Endometrial carcinoma, Uterine leiomyoma, Papillary thyroid carcinoma, Breast carcinoma |
OMIM:612359 |
| Hereditary Mixed Polyposis Syndrome |
|
Rectal polyposis, Neoplasm of the gastrointestinal tract, Prostate cancer, Adenocarcinoma of the ... |
ORPHA:157794 |
| Serrated Polyposis Syndrome |
|
Biliary tract neoplasm, Gastric diverticulum, Prostate cancer, Ovarian neoplasm, Germ cell neopla... |
ORPHA:157798 |
| Polymerase Proofreading-Related Adenomatous Polyposis |
|
Adenocarcinoma of the colon, Neoplasm of the rectum, Endometrial carcinoma, Colorectal polyposis,... |
ORPHA:447877 |
| Colorectal Cancer, Susceptibility To, 12 |
|
Colorectal polyposis, Carcinoma |
OMIM:615083 |
| Cerebral Sarcoma |
|
Neoplasm, Fibrosarcoma |
OMIM:117600 |
| Sarcoma, Synovial |
|
Synovial sarcoma |
OMIM:300813 |
| Alveolar Soft Part Sarcoma |
|
Alveolar soft part sarcoma |
OMIM:606243 |
| Autism |
|
Impaired ability to form peer relationships, Stereotypy, Impaired use of nonverbal behaviors |
OMIM:209850 |
| Autism, Susceptibility To, X-Linked 3 |
|
Lack of peer relationships, Stereotypy, Impaired use of nonverbal behaviors |
OMIM:300496 |
| Autism, Susceptibility To, X-Linked 2 |
|
Lack of peer relationships, Stereotypy, Impaired use of nonverbal behaviors |
OMIM:300495 |
| Autism, Susceptibility To, 8 |
|
Impaired ability to form peer relationships, Stereotypy, Impaired use of nonverbal behaviors |
OMIM:607373 |
| Autism, Susceptibility To, X-Linked 1 |
|
Lack of peer relationships, Stereotypy, Impaired use of nonverbal behaviors |
OMIM:300425 |
| Chromosome 15Q11-Q13 Duplication Syndrome |
|
Impaired ability to form peer relationships, Stereotypy, Impaired use of nonverbal behaviors |
OMIM:608636 |
| Colorectal Cancer, Hereditary Nonpolyposis, Type 4 |
|
Endometrial carcinoma, Ovarian neoplasm, Hereditary nonpolyposis colorectal carcinoma |
OMIM:614337 |
| Rhabdoid Tumor Predisposition Syndrome 2 |
|
Neoplasm of the central nervous system, Carcinoma |
OMIM:613325 |
| Multiple Fibroadenomas Of The Breast |
|
Fibroadenoma of the breast |
OMIM:615554 |
| Li-Fraumeni Syndrome |
|
Prostate cancer, Prostate neoplasm, Soft tissue sarcoma, Lung adenocarcinoma, Nephroblastoma, Ost... |
OMIM:151623 |
| Li-Fraumeni Syndrome |
|
Non-Hodgkin lymphoma, Ovarian neoplasm, Neoplasm, Colorectal polyposis, Hodgkin lymphoma, Breast ... |
ORPHA:524 |
| Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Neoplasm of head and neck, Goiter, Nodular goiter, Chronic noninfectious lymphadenopathy, Abnorma... |
ORPHA:97290 |
| Keratosis, Familial Actinic |
|
Neoplasm, Uterine neoplasm, Carcinoma |
OMIM:148390 |
| Desmoid Disease, Hereditary |
|
Desmoid tumors, Colon cancer |
OMIM:135290 |
| Colorectal Cancer, Hereditary Nonpolyposis, Type 5 |
|
Endometrial carcinoma, Hereditary nonpolyposis colorectal carcinoma |
OMIM:614350 |
| Erythroleukemia, Familial, Susceptibility To |
|
Refractory anemia with ringed sideroblasts, Erythroid hyperplasia, Thrombocytopenia, Acute myeloi... |
OMIM:133180 |
| Glioma Susceptibility 9 |
|
Leukemia, Glioma, Astrocytoma |
OMIM:616568 |
| Pten Hamartoma Tumor Syndrome |
|
Hemangioma, Ganglioneuroma, Colon cancer, Multinodular goiter, Endometrial carcinoma, Neoplasm, R... |
ORPHA:306498 |
| Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Leukemia, Monoclonal immunoglobulin M... |
OMIM:153600 |
| N Syndrome |
|
Neoplasm, Cryptorchidism, Leukemia, Hypospadias |
OMIM:310465 |
| Colorectal Cancer |
|
Renal cell carcinoma, Neoplasm of the stomach, Hereditary nonpolyposis colorectal carcinoma, Tran... |
OMIM:114500 |
| Chondrosarcoma |
|
Chondrosarcoma |
OMIM:215300 |
| Chondrosarcoma, Extraskeletal Myxoid |
|
Chondrosarcoma |
OMIM:612237 |
| Familial Papillary Or Follicular Thyroid Carcinoma |
|
Neoplasm of head and neck, Goiter, Nodular goiter, Chronic noninfectious lymphadenopathy, Papilla... |
ORPHA:319487 |
| Hereditary Leiomyomatosis And Renal Cell Cancer |
|
Uterine leiomyoma, Esophageal neoplasm, Multiple cutaneous leiomyomas, Cutaneous leiomyoma, Papil... |
ORPHA:523 |
| Cowden syndrome 3 |
|
Neoplasm of the thyroid gland, Uterine leiomyoma, Renal cell carcinoma |
OMIM:615106 |
| Myeloproliferative Syndrome, Transient |
|
Leukocytosis, Transient myeloproliferative syndrome |
OMIM:159595 |
| Myofibromatosis, Infantile, 1 |
|
Fibroma, Myofibromatosis |
OMIM:228550 |
| Li-Fraumeni Syndrome 2 |
|
Glioma, Meningioma, Stomach cancer, Sarcoma, Breast carcinoma |
OMIM:609265 |
| Intellectual Developmental Disorder With Autism And Speech Delay |
|
Impaired social interactions, Stereotypy |
OMIM:606053 |
| Myeloproliferative Disorder, Chronic, With Eosinophilia |
|
Myeloproliferative disorder, Malignant eosinophil proliferation, Eosinophilia |
OMIM:131440 |
| Nut Midline Carcinoma |
|
Neuroblastoma, Pancreatic squamous cell carcinoma, Neoplasm, Oropharyngeal squamous cell carcinom... |
ORPHA:443167 |
| Lymphoblastic Leukemia, Acute, With Lymphomatous Features |
|
Acute lymphoblastic leukemia, Lymphoma, T-cell acute lymphoblastic leukemias |
OMIM:247640 |
| Lichen Sclerosus Et Atrophicus |
|
Squamous cell carcinoma, Carcinoma |
OMIM:151590 |
| Hereditary Breast And Ovarian Cancer Syndrome |
|
Prostate cancer, Ovarian neoplasm, Primary peritoneal carcinoma, Breast carcinoma, Neoplasm of th... |
ORPHA:145 |
| Mismatch Repair Cancer Syndrome 2 |
|
Glioblastoma multiforme, Colon cancer, T-cell acute lymphoblastic leukemias |
OMIM:619096 |
| Familial Adenomatous Polyposis 4 |
|
Thyroid adenoma, Stomach cancer, Papilloma, Astrocytoma |
OMIM:617100 |
| Focal Cortical Dysplasia, Type Ii |
|
Astrocytosis, Cortical dysplasia, Focal cortical dysplasia type II, Hemimegalencephaly, Focal whi... |
OMIM:607341 |
| Juvenile Myelomonocytic Leukemia |
|
Juvenile myelomonocytic leukemia |
OMIM:607785 |
| Paragangliomas 3 |
|
Extraadrenal pheochromocytoma, Adrenal pheochromocytoma, Neoplasm, Elevated circulating catechola... |
OMIM:605373 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Lymphocytosis, Lymphoproliferative disorder, Monocytosis, Hemolytic anemia, Autoimmune thrombocyt... |
OMIM:614470 |
| Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer |
|
Acute myeloid leukemia, Adenomatous colonic polyposis, Colon cancer |
OMIM:246470 |
| Paragangliomas 1 |
|
Extraadrenal pheochromocytoma, Vagal paraganglioma, Adrenal pheochromocytoma, Elevated circulatin... |
OMIM:168000 |
| Rhabdomyosarcoma, Embryonal, 2 |
|
Goiter, Multinodular goiter, Pleuropulmonary blastoma, Nephroblastoma, Ovarian thecoma, Thyroid n... |
OMIM:180295 |
| Myeloproliferative Disease, Autosomal Recessive |
|
Myeloproliferative disorder |
OMIM:254700 |
| Paragangliomas 2 |
|
Vagal paraganglioma, Neoplasm, Chemodectoma, Glomus jugular tumor, Glomus tympanicum paraganglioma |
OMIM:601650 |
| Mismatch Repair Cancer Syndrome 4 |
|
Non-Hodgkin lymphoma, Glioblastoma multiforme, Adenomatous colonic polyposis, Astrocytoma, Colon ... |
OMIM:619101 |
| Hypereosinophilic Syndrome, Idiopathic |
|
Hepatomegaly, Myeloproliferative disorder, Eosinophilia, Splenomegaly |
OMIM:607685 |
| Fanconi Anemia, Complementation Group G |
|
Myelodysplasia, Neutropenia, Thrombocytopenia, Anemia, Leukemia |
OMIM:614082 |
| Attenuated Familial Adenomatous Polyposis |
|
Rectal polyposis, Adenocarcinoma of the colon, Fibroma, Uterine leiomyoma, Colorectal polyposis, ... |
ORPHA:220460 |
| Autism, Susceptibility To, 20 |
|
Impaired social interactions |
OMIM:618830 |
| Axin2-Related Attenuated Familial Adenomatous Polyposis |
|
Neoplasm of the rectum, Colorectal polyposis, Adenomatous colonic polyposis, Colon cancer |
ORPHA:401911 |
| Hereditary Leiomyomatosis And Renal Cell Cancer |
|
Uterine leiomyoma, Multiple cutaneous leiomyomas, Cutaneous leiomyoma, Renal cell carcinoma, Cuta... |
OMIM:150800 |
| Paragangliomas 4 |
|
Gastrointestinal stroma tumor, Extraadrenal pheochromocytoma, Neuroblastoma, Adrenal pheochromocy... |
OMIM:115310 |
| Pancreatic Cancer, Susceptibility To, 5 |
|
Pancreatic adenocarcinoma, Melanoma |
OMIM:618680 |
| Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Multiple gastric polyps, Colon cancer, Ovarian dermoid cyst, Neoplasm of the rectum, Uterine leio... |
ORPHA:480536 |
| Endometrial Cancer |
|
Endometrial carcinoma |
OMIM:608089 |
| Melanoma-Pancreatic Cancer Syndrome |
|
Pancreatic squamous cell carcinoma, Sarcoma, Oropharyngeal squamous cell carcinoma, Squamous cell... |
OMIM:606719 |
| Meningioma, Familial, Susceptibility To |
|
Meningioma |
OMIM:607174 |
| Cutaneous Neuroendocrine Carcinoma |
|
Basal cell carcinoma, Multiple myeloma, Neoplasm of the outer ear, Chronic noninfectious lymphade... |
ORPHA:79140 |
| Punctate Palmoplantar Keratoderma Type 1 |
|
Hodgkin lymphoma, Renal cell carcinoma, Breast carcinoma, Transitional cell carcinoma of the blad... |
ORPHA:79501 |
| Squamous Cell Carcinoma Of The Esophagus |
|
Esophageal carcinoma, Lymphadenopathy |
ORPHA:99977 |
| Leiomyoma, Uterine |
|
Uterine leiomyoma |
OMIM:150699 |
| Mantle Cell Lymphoma |
|
Abnormality of the gastrointestinal tract, B-cell lymphoma, Lymphadenopathy, Splenomegaly |
ORPHA:52416 |
| Cowden Syndrome |
|
Adenoma sebaceum, Neoplasm, Colorectal polyposis, Conjunctival hamartoma, Breast carcinoma, High ... |
ORPHA:201 |
| Generalized Eruptive Histiocytosis |
|
Histiocytosis, Leukemia, Hypereosinophilia |
ORPHA:157991 |
| Muir-Torre Syndrome |
|
Laryngeal carcinoma, Basal cell carcinoma, Carcinoma, Sebaceous gland carcinoma, Adenoma sebaceum... |
OMIM:158320 |
| Polyposis Syndrome, Hereditary Mixed, 2 |
|
Hyperplastic colonic polyposis, Adenomatous colonic polyposis, Juvenile colonic polyposis, Colon ... |
OMIM:610069 |
| Peutz-Jeghers Syndrome |
|
Neoplasm, Breast carcinoma, Anemia, Gastrointestinal infarctions, Abnormality of the gastrointest... |
ORPHA:2869 |
| Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Myelodysplasia, Monocytosis, Lymphoma, Acute myeloid leukemia, Leukopenia, Refractory anemia, Bon... |
OMIM:616871 |
| Testicular Germ Cell Tumor |
|
Embryonal neoplasm, Teratoma, Azoospermia, Choriocarcinoma |
OMIM:273300 |
| Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia |
|
Unilateral vestibular Schwannoma, Carcinoma |
OMIM:603641 |
| Carney Complex, Type 1 |
|
Elevated circulating growth hormone concentration, Pheochromocytoma, Cardiac myxoma, Thyroid foll... |
OMIM:160980 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Myelodysplasia, Microcytic anemia, Neutropenia, Thrombocytopenia, HbH hemoglobin, Splenomegaly, A... |
ORPHA:231401 |
| Unclassified Myelodysplastic Syndrome |
|
Myelodysplasia, Leukocytosis, Acute myeloid leukemia, Multiple lineage myelodysplasia, Bone marro... |
ORPHA:98827 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Thrombocytopenia, Acute myeloid leukemia, Myelodysplasia, Increased mean corpuscular volume |
OMIM:252270 |
| Familial Adenomatous Polyposis 2 |
|
Adenomatous colonic polyposis, Colon cancer |
OMIM:608456 |
| Wt Limb-Blood Syndrome |
|
Cryptorchidism, Thrombocytopenia, Hypoplastic anemia, Pancytopenia, Leukemia |
OMIM:194350 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 2 |
|
Myeloid leukemia, Premature graying of hair, Pancytopenia, Aplastic anemia, Leukemia, Bone marrow... |
OMIM:614743 |
| Medullary Thyroid Carcinoma |
|
Elevated calcitonin, Pheochromocytoma, Neoplasm of the skeletal system, Primary hyperparathyroidi... |
ORPHA:1332 |
| Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
| Breast-Ovarian Cancer, Familial, Susceptibility To, 2 |
|
Breast carcinoma, Ovarian neoplasm |
OMIM:612555 |
| Breast-Ovarian Cancer, Familial, Susceptibility To, 1 |
|
Breast carcinoma, Ovarian neoplasm |
OMIM:604370 |
| Breast-Ovarian Cancer, Familial, Susceptibility To, 3 |
|
Breast carcinoma, Ovarian carcinoma |
OMIM:613399 |
| Lynch Syndrome I |
|
Colon cancer |
OMIM:120435 |
| Colorectal Cancer, Hereditary Nonpolyposis, Type 2 |
|
Colon cancer |
OMIM:609310 |
| Colorectal Cancer, Susceptibility To, 3 |
|
Colon cancer |
OMIM:612229 |
| Maffucci Syndrome |
|
Neoplasm of the parathyroid gland, Goiter, Chondrosarcoma, Ovarian neoplasm, Dysphagia, Hemangiom... |
ORPHA:163634 |
| Primary Erythromelalgia |
|
Leukemia |
ORPHA:90026 |
| Mental Retardation, Autosomal Recessive 58 |
|
Aggressive behavior, Self-injurious behavior, Spastic diplegia, Stereotypy, Choreoathetosis |
OMIM:617270 |
| Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Acute lymphoblastic leukemia, Myelodysplasia, Neutropenia |
OMIM:610738 |
| Cronkhite-Canada Syndrome |
|
Gastrointestinal carcinoma, Neoplasm, Furrowed tongue, Hepatomegaly, Stomach cancer, Intestinal p... |
ORPHA:2930 |
| Spina Bifida-Hypospadias Syndrome |
|
Spina bifida, Spinal dysraphism |
ORPHA:3176 |
| Lymphedema, Primary, With Myelodysplasia |
|
Pancytopenia, Myelodysplasia, Leukemia |
OMIM:614038 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Myelodysplasia, Neutropenia, Thrombocytopenia, Acute myeloid leukemia, Pancytopenia, Anemia, Incr... |
OMIM:619041 |
| Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
| Ovarian Cancer |
|
Ovarian papillary adenocarcinoma, Dysgerminoma, Breast carcinoma |
OMIM:167000 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Endometrial carcinoma, Macroorchidism, Abnormality of female external genitalia, Breast carcinoma... |
ORPHA:90790 |
| Mental Retardation, Autosomal Recessive 66 |
|
Gait ataxia, Shyness, Aggressive behavior |
OMIM:618221 |
| Birt-Hogg-Dube Syndrome |
|
Fibrofolliculoma, Renal neoplasm, Trichodiscoma, Cutaneous leiomyoma, Renal cell carcinoma, Multi... |
OMIM:135150 |
| Gonadoblastoma |
|
Gonadoblastoma |
OMIM:424500 |
| Progressive Non-Fluent Aphasia |
|
Astrocytosis, Temporal cortical atrophy, Abnormal cerebral white matter morphology, Abnormal lowe... |
ORPHA:100070 |
| Amed Syndrome, Digenic |
|
Myelodysplasia, Hypoplasia of the uterus, Thrombocytopenia, Acute myeloid leukemia, Anemia, Leuko... |
OMIM:619151 |
| Immunodeficiency 21 |
|
Myeloid leukemia, Myelodysplasia, Monocytopenia, Abnormal natural killer cell morphology, Lymphop... |
OMIM:614172 |
| Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Erythroid hypoplasia, Myelodysplasia, Thrombocytosis, Abnormal erythrocyte morphology, Bone marro... |
ORPHA:86841 |
| Paragangliomas 6 |
|
Elevated circulating catecholamine level, Paraganglioma |
OMIM:618464 |
| Ovarian Fibromata |
|
Ovarian fibroma |
OMIM:166970 |
| 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 |
| Colorectal Cancer, Hereditary Nonpolyposis, Type 6 |
|
Hereditary nonpolyposis colorectal carcinoma |
OMIM:614331 |
| Colorectal Cancer, Hereditary Nonpolyposis, Type 8 |
|
Hereditary nonpolyposis colorectal carcinoma |
OMIM:613244 |
| Colorectal Cancer, Hereditary Nonpolyposis, Type 7 |
|
Hereditary nonpolyposis colorectal carcinoma |
OMIM:614385 |
| Thyroid Dyshormonogenesis 3 |
|
Compensated hypothyroidism, Thyroid carcinoma, Goiter, Increased T3/T4 ratio |
OMIM:274700 |
| Thyroid Cancer, Nonmedullary, 1 |
|
Non-medullary thyroid carcinoma, Goiter, Papillary thyroid carcinoma |
OMIM:188550 |
| Ganglioneuroma |
|
Functional intestinal obstruction, Ganglioneuroma, Gastrointestinal hemorrhage, Neoplasm of the a... |
ORPHA:251992 |
| Fanconi Anemia, Complementation Group D1 |
|
Acute myeloid leukemia, Anal atresia, Bone marrow hypocellularity, T-cell acute lymphoblastic leu... |
OMIM:605724 |
| Teratoma, Pineal |
|
Abnormal abdomen morphology, Teratoma |
OMIM:273120 |
| Desmoid Tumor |
|
Gastrointestinal hemorrhage, Fibroma, Desmoid tumors, Intestinal polyposis, Malabsorption, Intest... |
ORPHA:873 |
| Thyroid Lymphoma |
|
Goiter, Dysphagia, Hypothyroidism, Hashimoto thyroiditis, Lymphoma, Hyperthyroidism, Lymphadenopathy |
ORPHA:97285 |
| Cowden Syndrome 7 |
|
Hemangioma, Ductal carcinoma in situ, Goiter, Hashimoto thyroiditis, Intestinal polyposis, Breast... |
OMIM:616858 |
| Polyposis, Intestinal, With Multiple Exostoses |
|
Multiple exostoses, Intestinal polyposis |
OMIM:175450 |
| Apc-Related Attenuated Familial Adenomatous Polyposis |
|
Adrenocortical adenoma, Fibrosarcoma, Adenomatous colonic polyposis, Breast carcinoma, Adrenocort... |
ORPHA:247806 |
| Pancreatic Cancer |
|
Neoplasm of the pancreas |
OMIM:260350 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Monocytosis, Acute monocytic leukemia, Thrombocytosis, Neutropenia, A... |
OMIM:202700 |
| Syndromic Recessive X-Linked Ichthyosis |
|
Cryptorchidism, Abnormal stomach morphology, Testicular seminoma, Hypogonadism, Acute leukemia |
ORPHA:281090 |
| Mismatch Repair Cancer Syndrome 1 |
|
Non-Hodgkin lymphoma, Basal cell carcinoma, Adenocarcinoma of the colon, Medulloblastoma, Neurobl... |
OMIM:276300 |
| Peutz-Jeghers Syndrome |
|
Iron deficiency anemia, Ovarian cyst, Precocious puberty with Sertoli cell tumor, Intestinal blee... |
OMIM:175200 |
| Gardner Syndrome |
|
Adrenocortical adenoma, Ampulla of Vater carcinoma, Fibrosarcoma, Adenomatous colonic polyposis, ... |
ORPHA:79665 |
| Alpha-Heavy Chain Disease |
|
Lymphoma, Hepatomegaly, Ascites, Anemia, Splenomegaly, Abnormality of the small intestine, Malabs... |
ORPHA:100025 |
| Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors |
|
Euthyroid multinodular goiter, Papillary thyroid carcinoma |
OMIM:138800 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Myelodysplasia, Hypochromic anemia, Thrombocytosis, Leukocytosis, Refractory anemia with ringed s... |
ORPHA:75564 |
| Sporadic Creutzfeldt-Jakob Disease |
|
Astrocytosis, Gliosis, Cerebral atrophy, Ataxia, Hyperintensity of cerebral white matter on MRI, ... |
ORPHA:204 |
| Familial Adenomatous Polyposis |
|
Thyroiditis, Colorectal polyposis, Adenomatous colonic polyposis, Neoplasm of the adrenal gland, ... |
ORPHA:733 |
| Testicular Germ Cell Tumor 1 |
|
Germ cell neoplasia |
OMIM:300228 |
| Mast Cell Sarcoma |
|
Hepatomegaly, Sarcoma, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy |
ORPHA:66661 |
| Lynch Syndrome |
|
Basal cell carcinoma, Ovarian neoplasm, Colon cancer, Benign neoplasm of the central nervous syst... |
ORPHA:144 |
| Carcinoma Of Esophagus |
|
Dysphagia, Gastroesophageal reflux, Esophageal neoplasm, Abnormal intestine morphology, Barrett e... |
ORPHA:70482 |
| Motor Neuron Disease With Dementia And Ophthalmoplegia |
|
Astrocytosis, Cerebral atrophy, Degeneration of anterior horn cells |
OMIM:600333 |
| Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome |
|
Endometrial carcinoma, Thick eyebrow, Breast carcinoma, High, narrow palate, Melanoma |
ORPHA:457212 |
| Immunodeficiency, Common Variable, 13 |
|
Pancytopenia, Acute lymphoblastic leukemia, B lymphocytopenia |
OMIM:616873 |
| Familial Multinodular Goiter |
|
Alveolar rhabdomyosarcoma, Basal cell carcinoma, Ovarian neoplasm, Pilomatrixoma, Pleuropulmonary... |
ORPHA:276399 |
| Familial Infantile Bilateral Striatal Necrosis |
|
Astrocytosis, Basal ganglia gliosis, Basal ganglia cysts, Atrophy/Degeneration involving the caud... |
ORPHA:225154 |
| Polyposis, gastric |
|
Multiple gastric polyps |
OMIM:175020 |
| Familial Colorectal Cancer Type X |
|
Basal cell carcinoma, Gastrointestinal hemorrhage, Benign neoplasm of the central nervous system,... |
ORPHA:440437 |
| Hsd10 Mitochondrial Disease |
|
Progressive neurologic deterioration, Aggressive behavior, Cerebral cortical atrophy, Abnormal mi... |
OMIM:300438 |
| Ataxia-Pancytopenia Syndrome |
|
Abnormality of neutrophils, Acute myelomonocytic leukemia, Abnormal macrophage morphology, Pancyt... |
ORPHA:2585 |
| Adenocarcinoma Of The Esophagus |
|
Esophageal carcinoma, Gastroesophageal reflux, Barrett esophagus, Lymphadenopathy |
ORPHA:99976 |
| Chronic Myeloid Leukemia |
|
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Thro... |
ORPHA:521 |
| Combined Oxidative Phosphorylation Deficiency 38 |
|
Wolff-Parkinson-White syndrome, Decreased activity of mitochondrial complex IV, Depressed nasal b... |
OMIM:618378 |
| Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome |
|
Stereotypical hand wringing, Impaired social interactions, Self-injurious behavior, Hyperkinetic ... |
ORPHA:397933 |
| Von Hippel-Lindau Syndrome |
|
Pulmonary capillary hemangiomatosis, Retinal capillary hemangioma, Pheochromocytoma, Pancreatic c... |
OMIM:193300 |
| Pancreatic Cancer, Susceptibility To, 1 |
|
Pancreatic adenocarcinoma |
OMIM:606856 |
| Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Nail dystrophy, Alopecia, Multinodular goiter, Squamous cell carcinoma |
OMIM:618373 |
| Mutyh-Related Attenuated Familial Adenomatous Polyposis |
|
Rectal polyposis, Adenocarcinoma of the colon, Colorectal polyposis, Large intestinal polyposis, ... |
ORPHA:247798 |
| Thyroid Cancer, Nonmedullary, 4 |
|
Non-medullary thyroid carcinoma, Goiter |
OMIM:616534 |
| Fetal Cytomegalovirus Syndrome |
|
Hepatomegaly, Anemia, Splenomegaly |
ORPHA:294 |
| Diffuse Cutaneous Mastocytosis |
|
Leukemia, Malabsorption, Gastrointestinal hemorrhage, Cutaneous mastocytosis |
ORPHA:79456 |
| Pancreatic Cancer, Susceptibility To, 2 |
|
Neoplasm of the pancreas |
OMIM:613347 |
| Schöpf-Schulz-Passarge Syndrome |
|
Basal cell carcinoma, Sparse hair, Ovarian neoplasm, Alopecia, Aplasia/Hypoplasia of the eyebrow,... |
ORPHA:50944 |
| Cowden Syndrome 1 |
|
Hydrocele testis, Ovarian cyst, Subcutaneous lipoma, Goiter, Carcinoma, Thyroiditis, Lymphopenia,... |
OMIM:158350 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1 |
|
Myeloid leukemia, Myelodysplasia, Cirrhosis, Gastroesophageal reflux, Pancytopenia, Aplastic anem... |
OMIM:614742 |
| Immunodeficiency 75 |
|
Decreased proportion of class-switched memory B cells, Follicular hyperplasia, Lymphoma, Hepatosp... |
OMIM:619126 |
| Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Lymphoma, B-cell lymphoma, Hepatomegaly, Breast carcinoma, Splenomegaly, Lymphadenopathy |
ORPHA:86893 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Leukemia, Nephroblastoma, Meningioma |
OMIM:602501 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Leukocytosis, Bone marrow hypocellularity, Thrombocytopenia, Hepatomegaly, Abnormal neutrophil co... |
ORPHA:3226 |
| Anaplastic Thyroid Carcinoma |
|
Anaplastic thyroid carcinoma, Goiter, Dysphagia, Malignant neoplasm of the central nervous system... |
ORPHA:142 |
| Prostate Cancer |
|
Prostate cancer |
OMIM:176807 |
| Smith-Magenis syndrome |
|
Self-mutilation, Stereotypy |
DECIPHER:8 |
| Solitary Fibrous Tumor/Hemangiopericytoma |
|
Prostate cancer, Soft tissue neoplasm, Genital neoplasm, Neoplasm of the liver, Uterine neoplasm,... |
ORPHA:2126 |
| Barth Syndrome |
|
Dilated cardiomyopathy, Abnormal mitochondrial morphology |
ORPHA:111 |
| Obesity, Hyperphagia, And Developmental Delay |
|
Poor eye contact, Stereotypy |
OMIM:613886 |
| Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Myelodysplasia, Acute monocytic leukemia, Neuroblastoma, Abnormal alpha granule content, Abnormal... |
OMIM:601399 |
| Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities |
|
Stereotypy |
OMIM:617787 |
| Familial Melanoma |
|
Abnormal hair morphology, Neoplasm of the breast, Neoplasm of the stomach, Neoplasm of the pancre... |
ORPHA:618 |
| Lig4 Syndrome |
|
Cryptorchidism, Leukocytosis, Hypothyroidism, Lymphoma, Pancytopenia, Hepatomegaly, Type II diabe... |
ORPHA:99812 |
| Hirschsprung Disease |
|
Neoplasm of the thyroid gland, Aganglionic megacolon, Functional abnormality of the gastrointesti... |
ORPHA:388 |
| Cowden Syndrome 6 |
|
Hydrocele testis, Ovarian cyst, Subcutaneous lipoma, Goiter, Thyroiditis, Hypothyroidism, Meningi... |
OMIM:615109 |
| Autism, Susceptibility To, 3 |
|
Impaired ability to form peer relationships, Stereotypy, Impaired use of nonverbal behaviors |
OMIM:608049 |
| Familial Adenomatous Polyposis 1 |
|
Multiple gastric polyps, Medulloblastoma, Adrenocortical adenoma, Carcinoma, Fibroma, Osteoma, Sm... |
OMIM:175100 |
| Squamous Cell Carcinoma, Head And Neck |
|
Squamous cell carcinoma |
OMIM:275355 |
| Aggressive Systemic Mastocytosis |
|
Increased proportion of CD25+ mast cells, Gastrointestinal hemorrhage, Leukocytosis, Neutropenia,... |
ORPHA:98850 |
| Pendred Syndrome |
|
Compensated hypothyroidism, Goiter, Thyroid carcinoma |
OMIM:274600 |
| Thyroid Dyshormonogenesis 5 |
|
Hypothyroidism, Goiter |
OMIM:274900 |
| Thyroid Dyshormonogenesis 4 |
|
Hypothyroidism, Goiter |
OMIM:274800 |
| Ataxia-Pancytopenia Syndrome |
|
Acute myelomonocytic leukemia, Neutropenia, Pancytopenia, Thrombocytopenia, Hypoplastic anemia, A... |
OMIM:159550 |
| Turcot Syndrome With Polyposis |
|
Melena, Adenomatous colonic polyposis, Neoplasm of the central nervous system, Pilomatrixoma, Cer... |
ORPHA:99818 |
| Epidermodysplasia Verruciformis, Susceptibility To, 3 |
|
Basal cell carcinoma, Squamous cell carcinoma |
OMIM:618267 |
| Multiple Endocrine Neoplasia, Type Iia |
|
Increased circulating cortisol level, Pheochromocytoma, Thyroid C cell hyperplasia, Parathyroid a... |
OMIM:171400 |
| Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Hepatomegaly, Splenomegaly |
ORPHA:2274 |
| Huntington Disease |
|
Mental deterioration, Aggressive behavior, Disinhibition, Depression, Apathy, Abnormal cerebral w... |
ORPHA:399 |
| Undifferentiated Pleomorphic Sarcoma |
|
Soft tissue sarcoma |
ORPHA:2023 |
| Polyposis, Intestinal, Scattered And Discrete |
|
Discrete intestinal polyps |
OMIM:175400 |
| Sessile Serrated Polyposis Cancer Syndrome |
|
Serrated intestinal polyps |
OMIM:617108 |
| Thyroid Dyshormonogenesis 2A |
|
Hypothyroidism, Goiter, Thyroid defect in oxidation and organification of iodide |
OMIM:274500 |
| Storage Pool Platelet Disease |
|
Myelodysplasia, Decreased mean platelet volume, Acute leukemia |
OMIM:185050 |
| Thyroid Hormone Resistance, Generalized, Autosomal Dominant |
|
Impaired sensitivity to thyroid hormone, Goiter, Increased circulating free T3 |
OMIM:188570 |
| Neural Tube Defects, X-Linked |
|
Spina bifida, Anencephaly |
OMIM:301410 |
| Anencephaly 1 |
|
Spina bifida, Anencephaly |
OMIM:206500 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Chronic myelomonocytic leukemia, Abnormal mast cell morphology, Neutrophilia, Eosinophilia, Lymph... |
ORPHA:98849 |
| Essential Thrombocythemia |
|
Myelodysplasia, Abnormal platelet morphology, Acute leukemia, Splenomegaly |
ORPHA:3318 |
| Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Abnormal social behavior |
ORPHA:436151 |
| Disseminated Superficial Actinic Porokeratosis |
|
Squamous cell carcinoma |
ORPHA:79152 |
| Behavioral Variant Of Frontotemporal Dementia |
|
Astrocytosis, Abnormal cerebral white matter morphology, Frontotemporal cerebral atrophy |
ORPHA:275864 |
| Cowden Syndrome 5 |
|
Hydrocele testis, Ovarian cyst, Subcutaneous lipoma, Goiter, Thyroiditis, Hypothyroidism, Meningi... |
OMIM:615108 |
| Nk-Cell Enteropathy |
|
Lymphoproliferative disorder, Gastric ulcer, Increased T cell count, Hematochezia, Gastroesophage... |
ORPHA:263665 |
| N-Acetylaspartate Deficiency |
|
Self-mutilation, Truncal ataxia, Stereotypy |
OMIM:614063 |
| Multiple Endocrine Neoplasia Type 1 |
|
Pancreatic endocrine tumor, Elevated circulating growth hormone concentration, Increased circulat... |
ORPHA:652 |
| Immunodeficiency 36 |
|
Chronic lymphatic leukemia, B-cell lymphoma, Lymphopenia, Splenomegaly |
OMIM:616005 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Hemangioma, Myelodysplasia, Monocytosis, Lymphopenia, Neutropenia, Acute myeloid leukemia, Eosino... |
ORPHA:486 |
| Immunodeficiency 16 |
|
Coombs-positive hemolytic anemia, Pancytopenia, Kaposi's sarcoma, Splenomegaly |
OMIM:615593 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Astrocytosis, Cerebral cortical atrophy |
OMIM:600795 |
| Frontotemporal Dementia With Motor Neuron Disease |
|
Disinhibition, Depression, Apathy, Neuronal loss in the cerebral cortex, Frontotemporal dementia,... |
ORPHA:275872 |
| Cheilitis Glandularis |
|
Neoplasm, Abnormal salivary gland morphology, Squamous cell carcinoma |
ORPHA:1221 |
| Pick Disease Of Brain |
|
Emotional blunting, Apathy, Diminished motivation, Irritability, Stereotypy |
OMIM:172700 |
| Immunodeficiency 76 |
|
T lymphocytopenia, Lymphopenia, Colitis, B-cell lymphoma, B lymphocytopenia, Splenomegaly, Lympha... |
OMIM:619164 |
| Carney Complex |
|
Elevated circulating growth hormone concentration, Osteochondroma, Hirsutism, Cardiac myxoma, Adr... |
ORPHA:1359 |
| Myelofibrosis |
|
Myeloproliferative disorder, Splenomegaly |
OMIM:254450 |
| Chilblain Lupus |
|
Chronic myelomonocytic leukemia |
ORPHA:90280 |
| Dohle Bodies And Leukemia |
|
Acute myeloid leukemia, Leukocyte inclusion bodies, Anemia |
OMIM:223350 |
| Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Laryngeal carcinoma, Ambiguous genitalia, Ovotestis, Carcinoma, Decreased testicular size, Extern... |
OMIM:610644 |
| Premature Ovarian Failure 8 |
|
Premature ovarian insufficiency, Increased circulating gonadotropin level, Ovarian neoplasm |
OMIM:615723 |
| Schinzel-Giedion Midface Retraction Syndrome |
|
Facial hemangioma, Macroglossia, Sacrococcygeal teratoma, Scrotal hypoplasia, Teratoma, Splenopan... |
OMIM:269150 |
| Deiodinase, iodothyronine, type I |
|
Euthyroid hyperthyroxinemia, Goiter |
OMIM:147892 |
| Thyroid Hormone Plasma Membrane Transport Defect |
|
Euthyroid hyperthyroxinemia, Goiter |
OMIM:188560 |
| Mccune-Albright Syndrome |
|
Elevated circulating growth hormone concentration, Increased circulating cortisol level, Hyperthy... |
OMIM:174800 |
| Lhermitte-Duclos Disease |
|
Enlarged cerebellum, Polymicrogyria, Ataxia |
ORPHA:65285 |
| Cheilitis Glandularis |
|
Squamous cell carcinoma, Carcinoma |
OMIM:118330 |
| Desmoplastic Small Round Cell Tumor |
|
Neoplasm of the central nervous system, Ovarian neoplasm, Mediastinal lymphadenopathy, Sarcoma, N... |
ORPHA:83469 |
| Acute Monoblastic/Monocytic Leukemia |
|
Lymphocytosis, Hypochromic anemia, Acute monocytic leukemia, Leukocytosis, Central hypothyroidism... |
ORPHA:514 |
| Hodgkin Lymphoma |
|
Lymphoma, Neoplasm, Hepatomegaly, Splenomegaly, Lymphadenopathy |
ORPHA:98293 |
| Apolipoprotein A-I Deficiency |
|
Anemia, Abnormality of the liver, Lymphadenopathy, Splenomegaly |
ORPHA:425 |
| Multiple Endocrine Neoplasia, Type Iv |
|
Pancreatic endocrine tumor, Elevated circulating growth hormone concentration, Carcinoma, Renal a... |
OMIM:610755 |
| Burkitt Lymphoma |
|
Abnormality of the ovary, Neoplasm of the oral cavity, Gastrointestinal hemorrhage, Decreased pro... |
ORPHA:543 |
| 46,Xy Sex Reversal 10 |
|
Ambiguous genitalia, Gonadoblastoma, Sex reversal, Dysgerminoma, Decreased testicular size, Micro... |
OMIM:616425 |
| Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Autoimmune hemolytic anemia, Hepatomegaly, Splenomegaly, Abnormal intestine morphology, Lymphaden... |
OMIM:618495 |
| X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Morphological abnormality of the gastrointestinal tract, Esophageal stenosis, Vulvar neoplasm, Tr... |
ORPHA:1018 |
| Nasu-Hakola Disease |
|
Functional abnormality of the gastrointestinal tract, Acute leukemia |
ORPHA:2770 |
| Duplication Of The Pituitary Gland |
|
Abnormality of the pituitary gland, Teratoma, Volvulus, Cleft palate |
ORPHA:314621 |
| Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Lymphoproliferative disorder, Autoimmune thrombocytopenia, Decreased proportion of CD4-positive h... |
OMIM:300853 |
| Subependymoma |
|
Ovarian neoplasm, Spinal cord tumor, Neoplasm of the liver, Ependymoma, Neoplasm of the breast, S... |
ORPHA:251639 |
| Ependymoma |
|
Ovarian neoplasm, Spinal cord tumor, Neoplasm of the liver, Ependymoma, Neoplasm of the breast, S... |
ORPHA:251636 |
| Grfoma |
|
Intestinal carcinoid, Increased circulating gonadotropin level, Elevated circulating growth hormo... |
ORPHA:97261 |
| Acute Panmyelosis With Myelofibrosis |
|
Lymphocytosis, Acute myelomonocytic leukemia, Pancytopenia, Acute myeloid leukemia, Splenomegaly,... |
ORPHA:86843 |
| Chromosome 14Q32 Duplication Syndrome, 700-Kb |
|
Myeloid leukemia |
OMIM:616604 |
| Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome |
|
Hypoplasia of the corpus callosum, Microcephaly, Enlarged cerebellum |
ORPHA:85165 |
| Leukemia, Chronic Lymphocytic |
|
Chronic lymphatic leukemia |
OMIM:151400 |
| Leukemia, Chronic Lymphocytic, Susceptibility To, 2 |
|
Chronic lymphatic leukemia |
OMIM:109543 |
| Tyrosinemia Type 1 |
|
Hepatomegaly, Hepatocellular carcinoma, Acute hepatic failure, Splenomegaly |
ORPHA:882 |
| Fetal Iodine Deficiency Disorder |
|
Congenital goiter, Congenital hypothyroidism |
OMIM:228355 |
| Gcgr-Related Hyperglucagonemia |
|
Glucagonoma, Neoplasm of the pancreas, Cholelithiasis |
ORPHA:438274 |
| Lymphoproliferative Syndrome 3 |
|
Lymphoproliferative disorder, Reduced natural killer cell count, Hodgkin lymphoma, Hepatosplenome... |
OMIM:618261 |
| Intellectual Developmental Disorder, X-Linked 72 |
|
Stereotypy |
OMIM:300271 |
| Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic anemia, Autoimmu... |
OMIM:619375 |
| Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Multiple gastric polyps, Rectal polyposis, Hematochezia, Small intestinal polyposis, Adenomatous ... |
ORPHA:329971 |
| Gonadoblastoma |
|
Ambiguous genitalia, Abnormality of the ovary, Dysgerminoma, Hirsutism, Female external genitalia... |
ORPHA:206484 |
| Pelizaeus-Merzbacher Disease |
|
Reduction of oligodendroglia, Ataxia, Cerebral dysmyelination, Microcephaly, Choreoathetosis |
OMIM:312080 |
| Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Agenesis Of The Corpus Callosum |
|
Goiter, Primary hypothyroidism |
OMIM:225040 |
| Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination |
|
Irritability, Stereotypy, Spasticity |
OMIM:617393 |
| Currarino Syndrome |
|
Sacrococcygeal teratoma, Bifid scrotum, Male pseudohermaphroditism, Hypoplasia of penis, Hypospad... |
ORPHA:1552 |
| Retinal Dystrophy With Or Without Extraocular Anomalies |
|
Goiter, Premature ovarian insufficiency |
OMIM:617175 |
| Schopf-Schulz-Passarge Syndrome |
|
Basal cell carcinoma, Sparse hair, Poroma, Apocrine hidrocystoma, Squamous cell carcinoma |
OMIM:224750 |
| Acquired Ichthyosis |
|
Neoplasm, Multiple myeloma, Sarcoma, Lymphoma |
ORPHA:454 |
| Spinocerebellar Ataxia, Autosomal Recessive 27 |
|
Cerebellar atrophy, Cerebral atrophy, Gliosis, Gait ataxia |
OMIM:618369 |
| Pyoderma Gangrenosum |
|
Myeloid leukemia, Myelodysplasia, Inflammation of the large intestine |
ORPHA:48104 |
| Progressive Familial Intrahepatic Cholestasis |
|
Cholestasis, Neoplasm, Hepatomegaly, Jaundice, Splenomegaly, Malabsorption |
ORPHA:172 |
| Peripheral Primitive Neuroectodermal Tumor |
|
Ovarian neoplasm, Spinal cord tumor, Uterine neoplasm, Brain neoplasm, Anemia, Neoplasm of the sc... |
ORPHA:370348 |
| Laryngeal Neuroendocrine Tumor |
|
Elevated calcitonin, Neuroendocrine neoplasm, Chronic noninfectious lymphadenopathy, Increased se... |
ORPHA:100083 |
| Primary Dystonia, Dyt13 Type |
|
Postural tremor, Action tremor, Torticollis, Stereotypy, Involuntary movements |
ORPHA:98807 |
| Inherited Creutzfeldt-Jakob Disease |
|
Astrocytosis, Focal T2 hyperintense basal ganglia lesion, Gait ataxia, Diffuse spongiform leukoen... |
ORPHA:282166 |
| Retinoblastoma |
|
Retinoblastoma, Lymphoma, Cleft palate, Osteosarcoma, Pinealoma, Leukemia, Ewing sarcoma |
OMIM:180200 |
| Steinert Myotonic Dystrophy |
|
Male hypogonadism, Hypergonadotropic hypogonadism, Choroidal melanoma, Endometrial carcinoma, Dec... |
ORPHA:273 |
| Juvenile Polyposis Syndrome |
|
Hamartomatous stomach polyps, Juvenile gastrointestinal polyposis, Anemia, Intestinal polyp, Hama... |
ORPHA:2929 |
| Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease |
|
Recurrent cutaneous abscess formation, Squamous cell carcinoma |
OMIM:613736 |
| Bloom Syndrome |
|
Cryptorchidism, Azoospermia, Lymphoma, Hypertrichosis, Leukemia, Squamous cell carcinoma |
OMIM:210900 |
| Autoimmune Hemolytic Anemia, Warm Type |
|
Lymphoproliferative disorder, Autoimmune hemolytic anemia, Chronic lymphatic leukemia, Jaundice, ... |
ORPHA:90033 |
| Palmoplantar Carcinoma, Multiple Self-Healing |
|
Squamous cell carcinoma, Nail dystrophy, Carcinoma |
OMIM:615225 |
| Cancer-Associated Retinopathy |
|
Prostate cancer, Cutaneous melanoma, Neoplasm of the breast, Uterine neoplasm, Malignant genitour... |
ORPHA:71505 |
| Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction |
|
Astrocytosis, Ataxia |
OMIM:172500 |
| Noonan Syndrome 6 |
|
Cryptorchidism, Juvenile myelomonocytic leukemia, Sparse hair, Curly hair, Long eyebrows, Low pos... |
OMIM:613224 |
| Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Apathy, Emotional lability, Babinski sign, Stereotypy, Spasticity |
OMIM:612069 |
| Ollier Disease |
|
Hemangioma, Chondrosarcoma, Multiple enchondromatosis, Neoplasm, Sarcoma, Anemia, Visceral angiom... |
ORPHA:296 |
| Insulinomatosis And Diabetes Mellitus |
|
Diabetes mellitus, Hyperinsulinemic hypoglycemia, Multiple pancreatic beta-cell adenomas |
OMIM:147630 |
| Aicardi Syndrome |
|
Hiatus hernia, Hemangioma, Carcinoma, Metastatic angiosarcoma, Teratoma, Cleft palate, Precocious... |
OMIM:304050 |
| Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
|
Astrocytosis, Megalencephaly |
OMIM:611087 |
| Goiter, Multinodular 2 |
|
Euthyroid multinodular goiter |
OMIM:300273 |
| Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Hypoplasia of the corpus callosum, Abnormal mitochondrial morphology |
OMIM:618528 |
| Squamous Cell Carcinoma Of The Anal Canal |
|
Intestinal bleeding, Anal stenosis, Neoplasm of the rectum, Neoplasm of the liver, Rectal prolaps... |
ORPHA:424019 |
| Progressive Multifocal Leukoencephalopathy |
|
Gait ataxia, Abnormal oligodendroglia morphology, Paresthesia, Somatic sensory dysfunction, Dysme... |
ORPHA:217260 |
| Gray Platelet Syndrome |
|
Thrombocytopenia, Myelodysplasia, Splenomegaly |
ORPHA:721 |
| Barth Syndrome |
|
Arrhythmia, Congestive heart failure, Abnormal mitochondrial morphology, Dilated cardiomyopathy, ... |
OMIM:302060 |
| Gastrointestinal Stromal Tumor |
|
Gastrointestinal stroma tumor, Intestinal obstruction, Neurofibromas |
OMIM:606764 |
| Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Pheochromocytoma |
OMIM:171420 |
| Follicular Lymphoma |
|
Abnormality of the peritoneum, Lymphoma, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:545 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 2 |
|
Hypertonia, Spastic tetraplegia, Stereotypy, Self-injurious behavior |
OMIM:615282 |
| Ovarian Fibrothecoma |
|
Abnormality of the ovary, Fibrosarcoma, Hirsutism, Abnormality of the endometrium, Gonadal calcif... |
ORPHA:314478 |
| Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Impaired sensitivity to thyroid hormone, Goiter |
OMIM:274300 |
| Leukemia, Chronic Myeloid |
|
Chronic myelogenous leukemia, Ph-positive acute lymphoblastic leukemia |
OMIM:608232 |
| Chudley-Mccullough Syndrome |
|
Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Cerebellar dysplasia, Dysplastic corpus... |
OMIM:604213 |
| Gist-Plus Syndrome |
|
Gastrointestinal stroma tumor, Intestinal polyposis, Intussusception |
OMIM:175510 |
| Spastic Paraplegia Type 7 |
|
Cerebral cortical atrophy, Abnormal cerebral white matter morphology, Abnormal mitochondrial morp... |
ORPHA:99013 |
| Leydig Cell Hypoplasia |
|
Cryptorchidism, Hyoplasia of the Leydig cells, Male hypogonadism, Ambiguous genitalia, Aplasia of... |
ORPHA:755 |
| Infantile Myofibromatosis |
|
Gingival fibromatosis, Abnormal hair morphology, Benign neoplasm of the central nervous system, F... |
ORPHA:2591 |
| Carney Triad |
|
Gastrointestinal stroma tumor, Adrenocortical adenoma, Pheochromocytoma, Leiomyosarcoma, Adrenal ... |
ORPHA:139411 |
| Progressive Osseous Heteroplasia |
|
Abnormality of the parathyroid gland, Sarcoma |
ORPHA:2762 |
| Refractory Anemia With Excess Blasts |
|
Single lineage myelodysplasia, Leukocytosis, Thrombocytopenia, Acute myeloid leukemia, Anemia of ... |
ORPHA:86839 |
| Dermatofibrosarcoma Protuberans |
|
Fibrosarcoma, Neoplasm of the skin |
ORPHA:31112 |
| Fraxe Intellectual Disability |
|
Clumsiness, Recurrent hand flapping, Stereotypical body rocking, Aggressive behavior |
ORPHA:100973 |
| Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Cryptorchidism, Hemangioma, Lactose intolerance, Intestinal polyp, Hypospadias |
ORPHA:457485 |
| Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Aggressive behavior, Chorea, Paroxysmal dyskinesia, Poor coordination, Ataxia, Stereotypy |
OMIM:619150 |
| Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy |
|
Goiter, Abnormal calcium-phosphate regulating hormone level, Abnormal testis morphology, Abnormal... |
ORPHA:457059 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Extraadrenal pheochromocytoma, Adrenal pheochromocytoma, Cranial nerve compression, Paraganglioma... |
ORPHA:276621 |
| Diethylstilbestrol Syndrome |
|
Cryptorchidism, Abnormality of the uterus, Abnormal reproductive system morphology, Abnormal test... |
ORPHA:1916 |
| Ring Chromosome 12 Syndrome |
|
Glandular hypospadias, Cryptorchidism, Hemangioma, Breast hypoplasia, Uterine leiomyoma, Hirsutis... |
ORPHA:1439 |
| Dyskeratosis Congenita, Autosomal Recessive 3 |
|
Pancytopenia, Bone marrow hypocellularity, Squamous cell carcinoma, Nail dystrophy |
OMIM:613988 |
| Hyperkeratosis Lenticularis Perstans |
|
Basal cell carcinoma, Squamous cell carcinoma |
ORPHA:409 |
| Neurofibromatosis, Type I |
|
Lisch nodules, Neurofibromas, Plexiform neurofibroma, Pheochromocytoma, Optic nerve glioma, Menin... |
OMIM:162200 |
| Schinzel-Giedion Syndrome |
|
Myeloid leukemia, Facial hemangioma, Macroglossia, Sacrococcygeal teratoma, Annular pancreas, Dys... |
ORPHA:798 |
| Down Syndrome |
|
Macroglossia, Acute megakaryocytic leukemia, Myeloproliferative disorder, Aganglionic megacolon, ... |
OMIM:190685 |
| Hyperparathyroidism 2 With Jaw Tumors |
|
Parathyroid carcinoma, Hyperparathyroidism, Hamartoma, Hurthle cell thyroid adenoma, Papillary re... |
OMIM:145001 |
| Acquired Hypertrichosis Lanuginosa |
|
Hypopigmentation of hair, Abnormal eyebrow morphology, Macroglossia, Ovarian neoplasm, Glossitis,... |
ORPHA:2221 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Stereotypy, Tremor, Ataxia |
OMIM:617862 |
| Ataxia-Telangiectasia |
|
Non-Hodgkin lymphoma, T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lym... |
OMIM:208900 |
| Alpha-Thalassemia |
|
Myelodysplasia, Hemolytic anemia, Microcytic anemia, Cholelithiasis, Jaundice, Hypersplenism, Spl... |
ORPHA:846 |
| Dna2-Related Mitochondrial Dna Deletion Syndrome |
|
Depression, Decreased mitochondrial number |
ORPHA:352470 |
| Multiple Endocrine Neoplasia Type 4 |
|
Adrenocortical adenoma, Elevated circulating growth hormone concentration, Insulinoma, Carcinoid ... |
ORPHA:276152 |
| Mastocytosis |
|
Chronic leukemia, Gastrointestinal hemorrhage, Sarcoma, Splenomegaly, Mastocytosis, Acute leukemia |
ORPHA:98292 |
| Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
|
Increased mitochondrial number |
ORPHA:457050 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive |
|
Hepatomegaly, T lymphocytopenia, Lymphadenopathy, Splenomegaly |
OMIM:608971 |
| Juvenile Nasopharyngeal Angiofibroma |
|
Juvenile nasopharyngeal angiofibroma, Juvenile colonic polyposis |
ORPHA:289596 |
| Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Spina bifida, Hypoplastic left heart, Anencephaly, Ventricular septal defect |
ORPHA:2476 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Arachnoid hemangiomatosis, Retinal capillary hemangioma, Extraadrenal pheochromocytoma, Adrenal p... |
ORPHA:29072 |
| Childhood Disintegrative Disorder |
|
Abnormal emotion/affect behavior, Impaired social interactions, Anxiety, Stereotypy |
ORPHA:168782 |
| Baker-Gordon Syndrome |
|
Self-injurious behavior, Hyperkinetic movements, Ataxia, Stereotypy, Involuntary movements, Chore... |
OMIM:618218 |
| Paraneoplastic Pemphigus |
|
Thymoma, Sarcoma, B-cell lymphoma |
ORPHA:63455 |
| Hyperprolinemia, Type I |
|
Stereotypy, Aggressive behavior, Ataxia |
OMIM:239500 |
| Familial Pancreatic Carcinoma |
|
Peritoneal abscess, Functional intestinal obstruction, Exocrine pancreatic insufficiency, Colon c... |
ORPHA:1333 |
| Permanent Congenital Hypothyroidism |
|
Macroglossia, Goiter, Hypothyroidism, Jaundice, Thyroid dysgenesis |
ORPHA:226292 |
| Reticuloendotheliosis, X-Linked |
|
Jaundice, Hepatosplenomegaly, Anemia, Lymphadenopathy |
OMIM:312500 |
| Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
| Multiple Endocrine Neoplasia, Type I |
|
Subcutaneous lipoma, Elevated circulating growth hormone concentration, Increased circulating cor... |
OMIM:131100 |
| Bannayan-Riley-Ruvalcaba Syndrome |
|
Narrow palate, Meningioma, Neoplasm of the breast, Hashimoto thyroiditis, Uterine neoplasm, Neopl... |
ORPHA:109 |
| Epidermodysplasia Verruciformis, Susceptibility To, 2 |
|
Verruca plana, Squamous cell carcinoma of the skin |
OMIM:618231 |
| Acute Promyelocytic Leukemia |
|
Acute promyelocytic leukemia |
OMIM:612376 |
| Mosaic Variegated Aneuploidy Syndrome |
|
Ambiguous genitalia, Myelodysplasia, Hypothyroidism, Neoplasm, Cleft palate, Duodenal atresia, Ne... |
ORPHA:1052 |
| Benign Schwannoma |
|
Abnormal esophagus morphology, Scleral schwannoma, Abnormality of the liver, Abnormal parotid gla... |
ORPHA:252164 |
| Classic Mycosis Fungoides |
|
Abnormal lymphocyte morphology, Lymphoma, Hepatomegaly, Splenomegaly, Cutaneous T-cell lymphoma, ... |
ORPHA:2584 |
| Multiple Endocrine Neoplasia Type 2 |
|
Parathyroid hyperplasia, Neuroma, Pheochromocytoma, Multiple mucosal neuromas, Thyroid nodule, Ne... |
ORPHA:653 |
| Gastrointestinal Stromal Tumor |
|
Neoplasm of the gastrointestinal tract, Gastrointestinal stroma tumor, Gastrointestinal hemorrhag... |
ORPHA:44890 |
| Blepharochalasis And Double Lip |
|
Goiter |
OMIM:109900 |
| Pheochromocytoma |
|
Pheochromocytoma, Neoplasm, Hemangioma |
OMIM:171300 |
| Ovarian Dysgenesis 2 |
|
Gonadal hypoplasia, Abnormality of the uterus, Hypergonadotropic hypogonadism, Hirsutism, Hypopla... |
OMIM:300510 |
| Mccune-Albright Syndrome |
|
Abnormal endocrine physiology, Elevated circulating growth hormone concentration, Increased circu... |
ORPHA:562 |
| Lymphoproliferative Syndrome 2 |
|
Hemophagocytosis, Lymphoproliferative disorder, Lymphoma, Pancytopenia, Hepatomegaly, Hodgkin lym... |
OMIM:615122 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly |
ORPHA:46532 |
| Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome |
|
Hypoplasia of the corpus callosum, Colpocephaly, Cerebral white matter hypoplasia, Enlarged cereb... |
ORPHA:477993 |
| Combined Immunodeficiency Due To Dock8 Deficiency |
|
Anal canal squamous carcinoma, T lymphocytopenia, Squamous cell carcinoma of the vulva, Verrucae,... |
ORPHA:217390 |
| Waldenström Macroglobulinemia |
|
Gastrointestinal hemorrhage, Abnormality of neutrophils, Lymphoma, Hepatomegaly, Normocytic anemi... |
ORPHA:33226 |
| Immunodeficiency 64 |
|
Abnormal CD4:CD8 ratio, Increased proportion autoreactive unresponsive CD21-/low B cells, Autoimm... |
OMIM:618534 |
| Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Hepatiti... |
ORPHA:444463 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Fibroma, Dysphagia, Uterine leiomyoma, Abnormality of the parathyroid morphology, Renal hamartoma... |
ORPHA:99880 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Decreased proportion of class-switched memory B cells, Elevated circulating aspartate aminotransf... |
OMIM:615559 |
| Multiple Endocrine Neoplasia, Type Iib |
|
Parathyroid hyperplasia, Ganglioneuroma, Nodular goiter, Pheochromocytoma, Elevated calcitonin, M... |
OMIM:162300 |
| Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements |
|
Stereotypical hand wringing, Chorea, Self-injurious behavior |
OMIM:618760 |
| Granulomatous Slack Skin |
|
Hodgkin lymphoma, Abnormality of the lymph nodes, Lymphoma |
ORPHA:33111 |
| Tuberous Sclerosis Complex |
|
Parathyroid hyperplasia, Pancreatic endocrine tumor, Retinal astrocytic hamartoma, Cardiac rhabdo... |
ORPHA:805 |
| Rothmund-Thomson Syndrome Type 1 |
|
Cryptorchidism, Myelodysplasia, Basal cell carcinoma, Premature ovarian insufficiency, Sparse hai... |
ORPHA:221008 |
| Hemihyperplasia, Isolated |
|
Embryonal neoplasm, Myelomeningocele, Nephroblastoma |
OMIM:235000 |
| Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutrop... |
OMIM:619220 |
| Pendred Syndrome |
|
Hypothyroidism, Goiter, Thyroid carcinoma, Hyperparathyroidism |
ORPHA:705 |
| Carney-Stratakis Syndrome |
|
Intestinal obstruction, Gastrointestinal stroma tumor, Paraganglioma |
ORPHA:97286 |
| 46,Xy Sex Reversal 11 |
|
Elevated circulating luteinizing hormone level, Urogenital sinus anomaly, Vanishing testis, Decre... |
OMIM:273250 |
| Atypical Rett Syndrome |
|
Pill-rolling tremor, Impaired social interactions, Apraxia, Tremor, Gait ataxia, Poor eye contact... |
ORPHA:3095 |
| Familial Thyroid Dyshormonogenesis |
|
Macroglossia, Increased radioactive iodine uptake, Goiter, Decreased circulating T4 level, Elevat... |
ORPHA:95716 |
| Retinoblastoma |
|
Retinoblastoma, Glioma, Lymphoma, Leiomyosarcoma, Osteosarcoma, Rhabdomyosarcoma, Cleft palate, L... |
ORPHA:790 |
| Parathyroid Carcinoma |
|
Parathyroid carcinoma, Fibroma, Dysphagia, Uterine leiomyoma, Abnormality of the parathyroid morp... |
ORPHA:143 |
| Fanconi Anemia, Complementation Group E |
|
Cryptorchidism, Hypergonadotropic hypogonadism, Neutropenia, Reticulocytopenia, Pancytopenia, Thr... |
OMIM:600901 |
| Ovarian Fibroma |
|
Basal cell carcinoma, Abnormality of the ovary, Odontogenic keratocysts of the jaw, Gonadal calci... |
ORPHA:314473 |
| Immunodeficiency 54 |
|
Lymphoproliferative disorder, Hepatomegaly, Reduced natural killer cell count, Adrenocorticotropi... |
OMIM:609981 |
| Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Multinodular goiter |
ORPHA:2091 |
| Oligodontia-Colorectal Cancer Syndrome |
|
Fundic gland polyposis, Short eyelashes, Sparse axillary hair, Absent eyebrow, Sparse scalp hair,... |
OMIM:608615 |
| Neurofibromatosis Type 1 |
|
Cryptorchidism, Lisch nodules, Neoplasm of the gastrointestinal tract, Urinary tract neoplasm, Ab... |
ORPHA:636 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Chronic hepatic fai... |
ORPHA:79303 |
| Rhabdoid Tumor |
|
Neoplasm of the central nervous system, Renal neoplasm, Neoplasm of the liver, Thrombocytopenia, ... |
ORPHA:69077 |
| Xeroderma Pigmentosum Variant |
|
Basal cell carcinoma, Squamous cell carcinoma, Melanoma |
ORPHA:90342 |
| Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies |
|
Multinodular goiter |
OMIM:138790 |
| Hyperlipoproteinemia, Type Id |
|
Hepatomegaly, Colitis, Splenomegaly |
OMIM:615947 |
| Immunodeficiency, Common Variable, 2 |
|
Follicular hyperplasia, Lymphoma, Neoplasm, Hepatomegaly, Splenomegaly, Lymphadenopathy |
OMIM:240500 |
| Developmental And Epileptic Encephalopathy 58 |
|
Spastic diplegia, Stereotypy |
OMIM:617830 |
| Schnitzler Syndrome |
|
Leukocytosis, Lymphoma, Hepatomegaly, Anemia, Splenomegaly, Lymphadenopathy |
ORPHA:37748 |
| Oncogenic Osteomalacia |
|
Neoplasm of head and neck, Neurofibromas, Carcinoma, Giant cell tumor of bone, Neoplasm of the sk... |
ORPHA:352540 |
| Mental Retardation With Language Impairment And With Or Without Autistic Features |
|
Aggressive behavior, Speech apraxia, Self-injurious behavior, Anxiety, Stereotypy |
OMIM:613670 |
| Familial Thrombocytosis |
|
Myelodysplasia, Thrombocytosis, Chronic myelogenous leukemia, Acute myeloid leukemia, Splenomegaly |
ORPHA:71493 |
| Mismatch Repair Cancer Syndrome 3 |
|
Lisch nodules, Neoplasm of the rectum, Glioblastoma multiforme, Lymphoma, T-cell lymphoma, Astroc... |
OMIM:619097 |
| Fanconi Anemia, Complementation Group A |
|
Cryptorchidism, Hypergonadotropic hypogonadism, Neutropenia, Reticulocytopenia, Pancytopenia, Thr... |
OMIM:227650 |
| Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Abnormality of thalamus morphology, Hyposmia, Azoospermia, Leukoencephalopathy |
OMIM:613724 |
| Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Stereotypy, Ataxia |
OMIM:618709 |
| Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract |
|
Stereotypical hand wringing, Irritability, Spasticity |
ORPHA:500545 |
| Dyskeratosis Congenita, X-Linked |
|
Cryptorchidism, Premature graying of hair, Pancytopenia, Hodgkin lymphoma, Leukopenia, Anemia, De... |
OMIM:305000 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hypochromia, Azoospermia, Decreased mean corpuscular volume, Hepatomegaly, Anemia, Splenomegaly, ... |
OMIM:615234 |
| Neonatal Severe Primary Hyperparathyroidism |
|
Hepatomegaly, Abnormality of the thyroid gland, Abnormal calcium-phosphate regulating hormone lev... |
ORPHA:417 |
| Hemoglobin H Disease |
|
Hemolytic anemia, Hepatomegaly, HbH hemoglobin, Splenomegaly, Reduced alpha/beta synthesis ratio |
OMIM:613978 |
| Bloom Syndrome |
|
Neoplasm of the breast, Neoplasm, Malignant genitourinary tract tumor, Myelodysplasia, Gastroesop... |
ORPHA:125 |
| Immunodeficiency 48 |
|
Hepatomegaly, Splenomegaly |
OMIM:269840 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Abnormal erythrocyte enzyme level, Myeloproliferative disorder |
ORPHA:100924 |
| Complete Androgen Insensitivity Syndrome |
|
Abnormal morphology of female internal genitalia, Aplasia of the uterus, Elevated circulating lut... |
ORPHA:99429 |
| Tatton-Brown-Rahman Syndrome |
|
Myeloid leukemia, Cryptorchidism, Neuroendocrine neoplasm, Thick eyebrow |
ORPHA:404443 |
| Polycythemia Vera |
|
Myelodysplasia, Gastrointestinal hemorrhage, Hepatomegaly, Splenomegaly, Portal hypertension, Acu... |
ORPHA:729 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Myelodysplasia, Hemolytic anemia, Dysphagia, Pancytopenia, Acute myeloid leukemia, Hypoplastic an... |
ORPHA:447 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Decreased activity of mitochondrial complex IV, Increased mitochondrial number |
OMIM:619063 |
| Myelocytic Leukemia-Like Syndrome, Familial, Chronic |
|
Chronic myelogenous leukemia |
OMIM:600080 |
| Liposarcoma |
|
Sarcoma |
ORPHA:69078 |
| Mental Retardation, Autosomal Recessive 39 |
|
Aggressive behavior, Stereotypy |
OMIM:615541 |
| Immunodeficiency With Hyper-Igm, Type 4 |
|
Myelodysplasia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Absence of lymph node g... |
OMIM:608184 |
| Fanconi Anemia, Complementation Group C |
|
Cryptorchidism, Hypergonadotropic hypogonadism, Neutropenia, Reticulocytopenia, Pancytopenia, Thr... |
OMIM:227645 |
| Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Astrocytosis, Gliosis, Ataxia, Cerebellar atrophy, Cerebral cortical neurodegeneration |
OMIM:203700 |
| Rothmund-Thomson Syndrome Type 2 |
|
Cryptorchidism, Myelodysplasia, Basal cell carcinoma, Sparse hair, Squamous cell carcinoma, Neutr... |
ORPHA:221016 |
| Hsd10 Disease |
|
Tremor, Rigidity, Spastic paraparesis, Abnormal social behavior, Ataxia, Myoclonus, Choreoathetosis |
ORPHA:391417 |
| Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly |
OMIM:206400 |
| Mental Retardation, Autosomal Recessive 41 |
|
Anxiety, Stereotypy |
OMIM:615637 |
| 46,Xy Sex Reversal 6 |
|
Chordee, Gonadoblastoma, Sex reversal, Dysgerminoma, Hirsutism, Sparse axillary hair, Hypospadias... |
OMIM:613762 |
| Immunodeficiency 55 |
|
Myelodysplasia, Neutropenia, Lymphadenopathy |
OMIM:617827 |
| Epidermodysplasia Verruciformis, X-Linked |
|
Verrucae, Squamous cell carcinoma of the skin |
OMIM:305350 |
| Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Impaired social interactions, No social interaction, Aggressive behavior |
ORPHA:329249 |
| Chromosome 3Q29 Deletion Syndrome |
|
Anxiety, Gait ataxia, Aggressive behavior, Stereotypy |
OMIM:609425 |
| Classic Hodgkin Lymphoma |
|
Lymphoma, Neoplasm, Hepatomegaly, Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy |
ORPHA:391 |
| Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
T lymphocytopenia, Lymphopenia, Verrucae, Squamous cell carcinoma of the skin |
OMIM:618309 |
| Hypothyroidism, Congenital, Nongoitrous, 5 |
|
Hypothyroidism, Congenital hypothyroidism, Ectopic thyroid, Thyroid hypoplasia |
OMIM:225250 |
| Large Congenital Melanocytic Nevus |
|
Cutaneous melanoma, Neoplasm, Sarcoma, Rhabdomyosarcoma, Generalized hirsutism, Neoplasm of the skin |
ORPHA:626 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Glossitis, Hematochezia, Gastrointestinal carcinoma, Protein-losing enteropathy, Xerostomia, Anem... |
OMIM:175500 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Lymphocytosis, Hemophagocytosis, Neutropenia, Burkitt lymphoma, Lymphoma, Pancytopenia, Thrombocy... |
OMIM:308240 |
| Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome |
|
Sex reversal, Squamous cell carcinoma of the skin |
ORPHA:85112 |
| Thymic Neuroendocrine Tumor |
|
Increased circulating cortisol level, Pituitary prolactin cell adenoma, Neuroendocrine neoplasm, ... |
ORPHA:97289 |
| Shwachman-Diamond Syndrome |
|
Neutropenia, Pancytopenia, Pancreatic hypoplasia, Leukopenia, Anemia, Fat malabsorption, Myelodys... |
ORPHA:811 |
| Pontocerebellar Hypoplasia, Type 11 |
|
Poor eye contact, Limb ataxia, Poor coordination, Ataxia, Happy demeanor, Stereotypy, Spasticity |
OMIM:617695 |
| Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Shyness, Babinski sign, Stereotypy, Progressive spastic paraplegia, Spastic dysarthria, Spasticity |
ORPHA:280763 |
| Sweet Syndrome |
|
Inflammation of the large intestine, Leukocytosis, Chronic lymphatic leukemia, Neoplasm, Hematolo... |
ORPHA:3243 |
| Nephroblastoma |
|
Neoplasm of the liver, Neoplasm, Nephroblastoma, Neoplasm of the lung, Lymphadenopathy |
ORPHA:654 |
| Congenital Hypothyroidism |
|
Macroglossia, Goiter, Anterior hypopituitarism, Hypothyroidism, Prolonged neonatal jaundice, Abno... |
ORPHA:442 |
| Congenital Bile Acid Synthesis Defect Type 3 |
|
Elevated hepatic transaminase, Gastrointestinal hemorrhage, Neonatal cholestatic liver disease, B... |
ORPHA:79302 |
| Nijmegen Breakage Syndrome |
|
Low anterior hairline, Hemolytic anemia, Abnormal hair morphology, Abnormal hair quantity, Autoim... |
ORPHA:647 |
| Ichthyosis, Hystrix-Like, With Deafness |
|
Absent eyelashes, Scarring alopecia of scalp, Sparse and thin eyebrow, Squamous cell carcinoma, S... |
OMIM:602540 |
| Thyroid Dyshormonogenesis 1 |
|
Hypothyroidism, Goiter |
OMIM:274400 |
| Mosaic Variegated Aneuploidy Syndrome 1 |
|
Cryptorchidism, Ambiguous genitalia, Bifid scrotum, Nephroblastoma, Rhabdomyosarcoma, Cleft palat... |
OMIM:257300 |
| Congenital Factor Xiii Deficiency |
|
Myeloid leukemia, Inflammation of the large intestine |
ORPHA:331 |
| Foxg1 Syndrome |
|
Impaired social interactions, Poor eye contact, Hyperkinetic movements, Myoclonus, Stereotypy, St... |
ORPHA:561854 |
| Bone Marrow Failure Syndrome 3 |
|
Cryptorchidism, Sparse hair, Pancytopenia, Acute myeloid leukemia, Aplastic anemia, Aplasia/Hypop... |
OMIM:617052 |
| Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hepatomegaly, Splenomegaly |
OMIM:619175 |
| Congenital Bile Acid Synthesis Defect Type 1 |
|
Cirrhosis, Elevated hepatic transaminase, Gastrointestinal hemorrhage, Neonatal cholestatic liver... |
ORPHA:79301 |
| Hypothyroidism, Congenital, Nongoitrous, 9 |
|
Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone level, Decreased circu... |
OMIM:301035 |
| Ataxia-Telangiectasia With Generalized Skin Pigmentation And Early Death |
|
Leukemia, Abnormality of the thymus |
OMIM:208910 |
| Nevus Comedonicus Syndrome |
|
Spina bifida, Hamartoma, Spina bifida occulta |
ORPHA:64754 |
| Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Gait ataxia, Chorea, Self-injurious behavior, Stereotypy, Stereotypical hand wringing, Spasticity |
OMIM:618917 |
| Pediatric-Onset Graves Disease |
|
Puberty and gonadal disorders, Graves disease, Goiter, Increased circulating T4 level, Elevated h... |
ORPHA:525731 |
| Sea-Blue Histiocyte Disease |
|
Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis, Splenomegaly |
OMIM:269600 |
| Fanconi Anemia, Complementation Group D2 |
|
Cryptorchidism, Hypergonadotropic hypogonadism, Neutropenia, Esophageal atresia, Reticulocytopeni... |
OMIM:227646 |
| Myxedema |
|
Hypothyroidism, Goiter, Elevated circulating thyroid-stimulating hormone concentration |
OMIM:255900 |
| Down Syndrome |
|
Macroglossia, Acute megakaryocytic leukemia, Narrow palate, Hypothyroidism, Aganglionic megacolon... |
ORPHA:870 |
| Hypothyroidism, Congenital, Nongoitrous, 1 |
|
Hypothyroidism, Congenital hypothyroidism, Elevated circulating thyroid-stimulating hormone conce... |
OMIM:275200 |
| Bangstad Syndrome |
|
Pancytopenia, Goiter, Primary gonadal insufficiency, Insulin-resistant diabetes mellitus |
OMIM:210740 |
| Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Recurrent tonsillitis, Microcytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy |
OMIM:618852 |
| Lymphoproliferative Syndrome 1 |
|
Lymphoproliferative disorder, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Decreased... |
OMIM:613011 |
| Hemochromatosis, Type 2B |
|
Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Anemia, Splenomegaly, Hypogonadism |
OMIM:613313 |
| Necrobiosis Lipoidica |
|
Abnormality of neutrophil physiology, Granuloma, Squamous cell carcinoma |
ORPHA:542592 |
| Ophthalmoplegia, External, And Myopia |
|
Spina bifida |
OMIM:311000 |
| Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome |
|
Hamartoma, Ovarian neoplasm, Neoplasm of the thyroid gland, Neoplasm of the breast, Visceral angi... |
ORPHA:137608 |
| Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly |
OMIM:183350 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia, Hepatomegaly, Leukopenia, Splenomega... |
OMIM:615285 |
| Fibular Dimelia-Diplopodia Syndrome |
|
Sacrococcygeal teratoma |
ORPHA:1757 |
| Thyrocerebroretinal Syndrome |
|
Thrombocytopenia, Goiter |
OMIM:274240 |
| Leber Congenital Amaurosis 10 |
|
Hyposmia |
OMIM:611755 |
| Mycosis Fungoides |
|
