Chemodectoma, Intraabdominal, With Cutaneous Angiolipomas |
|
Cutaneous angiolipomas, Chemodectoma, Retroperitoneal chemodectomas |
OMIM:118350 |
Paragangliomas 7 |
|
Pheochromocytoma, Paraganglioma |
OMIM:618475 |
Paraganglioma And Gastric Stromal Sarcoma |
|
Paraganglioma, Neoplasm of the gastrointestinal tract |
OMIM:606864 |
Paragangliomas 5 |
|
Paraganglioma |
OMIM:614165 |
Carcinoid Tumors, Intestinal |
|
Intestinal carcinoid |
OMIM:114900 |
Schwannomatosis 2 |
|
Schwannoma, Spinal cord tumor |
OMIM:615670 |
Schwannomatosis 1 |
|
Schwannoma, Spinal cord tumor, Meningioma |
OMIM:162091 |
Insulinoma Tumor Suppressor Gene Locus |
|
Insulinoma |
OMIM:606960 |
Asperger Syndrome, X-Linked, Susceptibility To, 2 |
|
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... |
OMIM:300497 |
Asperger Syndrome, X-Linked, Susceptibility To, 1 |
|
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... |
OMIM:300494 |
Asperger Syndrome, Susceptibility To, 1 |
|
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... |
OMIM:608638 |
Asperger Syndrome, Susceptibility To, 2 |
|
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... |
OMIM:608631 |
Neurofibromatosis-Pheochromocytoma-Duodenal Carcinoid Syndrome |
|
Carcinoid tumor, Neurofibromas, Pheochromocytoma |
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 |
Ewing Sarcoma |
|
Ewing sarcoma |
OMIM:612219 |
Nthl1-Related Attenuated Familial Adenomatous Polyposis |
|
Adenomatous colonic polyposis, Neoplasm of the rectum, Breast carcinoma, Ovarian cyst, Duodenal a... |
ORPHA:454840 |
Reticulum Cell Sarcoma |
|
Neoplasm, Sarcoma |
OMIM:267730 |
Muir-Torre Syndrome |
|
Malignant genitourinary tract tumor, Neoplasm of the liver, Salivary gland neoplasm, Breast carci... |
ORPHA:587 |
Testicular Torsion |
|
Testicular torsion, Torsion of appendix of testis |
OMIM:187400 |
Colorectal Cancer, Susceptibility To, 10 |
|
Endometrial carcinoma, Colorectal polyposis, Carcinoma |
OMIM:612591 |
Cowden-Like syndrome |
|
Papillary thyroid carcinoma, Uterine leiomyoma, Endometrial carcinoma, Breast carcinoma |
OMIM:612359 |
Colorectal Cancer, Hereditary Nonpolyposis, Type 8 |
|
Adenomatous colonic polyposis, Endometrial carcinoma, Hereditary nonpolyposis colorectal carcinom... |
OMIM:613244 |
Desmoid Disease, Hereditary |
|
Desmoid tumors, Colon cancer, Colorectal polyposis, Breast carcinoma |
OMIM:135290 |
Serrated Polyposis Syndrome |
|
Adenomatous colonic polyposis, Hodgkin lymphoma, Ovarian neoplasm, Prostate cancer, Breast carcin... |
ORPHA:157798 |
Hereditary Mixed Polyposis Syndrome |
|
Adenomatous colonic polyposis, Neoplasm of the rectum, Thyroid carcinoma, Prostate cancer, Hyperp... |
ORPHA:157794 |
Colorectal Cancer, Susceptibility To, 12 |
|
Colorectal polyposis, Carcinoma |
OMIM:615083 |
Polymerase Proofreading-Related Adenomatous Polyposis |
|
Adenomatous colonic polyposis, Neoplasm of the rectum, Breast carcinoma, Endometrial carcinoma, A... |
ORPHA:447877 |
Cerebral Sarcoma |
|
Neoplasm, Fibrosarcoma |
OMIM:117600 |
Sarcoma, Synovial |
|
Synovial sarcoma |
OMIM:300813 |
Alveolar Soft Part Sarcoma |
|
Alveolar soft part sarcoma |
OMIM:606243 |
Autism |
|
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... |
OMIM:209850 |
Autism, Susceptibility To, X-Linked 3 |
|
Lack of peer relationships, Motor stereotypy, Abnormal nonverbal communicative behavior |
OMIM:300496 |
Autism, Susceptibility To, 8 |
|
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... |
OMIM:607373 |
Autism, Susceptibility To, X-Linked 1 |
|
Lack of peer relationships, Motor stereotypy, Abnormal nonverbal communicative behavior |
OMIM:300425 |
Chromosome 15Q11-Q13 Duplication Syndrome |
|
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... |
OMIM:608636 |
Rhabdoid Tumor Predisposition Syndrome 2 |
|
Neoplasm of the central nervous system, Carcinoma |
OMIM:613325 |
Colorectal Cancer, Hereditary Nonpolyposis, Type 4 |
|
Endometrial carcinoma, Ovarian neoplasm, Hereditary nonpolyposis colorectal carcinoma |
OMIM:614337 |
Multiple Fibroadenomas Of The Breast |
|
Fibroadenoma of the breast |
OMIM:615554 |
Glioma Susceptibility 9 |
|
Glioma, Renal neoplasm, Neoplasm of the lung, Leukemia, Astrocytoma |
OMIM:616568 |
Li-Fraumeni Syndrome |
|
Neoplasm of the pancreas, Lung adenocarcinoma, Choriocarcinoma, Prostate cancer, Breast carcinoma... |
OMIM:151623 |
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Breast carcinoma, Abnormality of the lymph nodes, Chronic noninfectious lymphadenopathy, Renal co... |
ORPHA:97290 |
Li-Fraumeni Syndrome |
|
Neoplasm of the rectum, Ovarian neoplasm, Stomach cancer, Non-Hodgkin lymphoma, Choroid plexus ca... |
ORPHA:524 |
Pten Hamartoma Tumor Syndrome |
|
Papilloma, Neoplasm, Lipoma, Thyroid carcinoma, Breast carcinoma, Hemangioma, Endometrial carcino... |
ORPHA:306498 |
Erythroleukemia, Familial, Susceptibility To |
|
Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia, Refractory anemia with ringed sideroblasts,... |
OMIM:133180 |
Colorectal Cancer, Hereditary Nonpolyposis, Type 5 |
|
Endometrial carcinoma, Hereditary nonpolyposis colorectal carcinoma |
OMIM:614350 |
Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem... |
OMIM:153600 |
Colorectal Cancer |
|
Hereditary nonpolyposis colorectal carcinoma, Uterine leiomyosarcoma, Renal cell carcinoma, Neopl... |
OMIM:114500 |
Chondrosarcoma |
|
Chondrosarcoma |
OMIM:215300 |
Chondrosarcoma, Extraskeletal Myxoid |
|
Chondrosarcoma |
OMIM:612237 |
N Syndrome |
|
Hypospadias, Cryptorchidism, Leukemia, Neoplasm |
OMIM:310465 |
Familial Papillary Or Follicular Thyroid Carcinoma |
|
Abnormality of the lymph nodes, Chronic noninfectious lymphadenopathy, Papillary thyroid carcinom... |
ORPHA:319487 |
Hereditary Leiomyomatosis And Renal Cell Cancer |
|
Esophageal neoplasm, Uterine leiomyoma, Barrett esophagus, Multiple cutaneous leiomyomas, Uterine... |
ORPHA:523 |
Li-Fraumeni Syndrome 2 |
|
Glioma, Breast carcinoma, Stomach cancer, Meningioma, Sarcoma |
OMIM:609265 |
Myofibromatosis, Infantile, 1 |
|
Fibroma, Myofibromatosis |
OMIM:228550 |
Myeloproliferative Syndrome, Transient |
|
Transient myeloproliferative syndrome, Leukocytosis |
OMIM:159595 |
Intellectual Developmental Disorder, Autosomal Recessive 64 |
|
Hypertonia, Aggressive behavior, Spasticity, Impaired social interactions, Slurred speech |
OMIM:618103 |
Myeloproliferative Disorder, Chronic, With Eosinophilia |
|
Myeloproliferative disorder, Eosinophilia, Malignant eosinophil proliferation |
OMIM:131440 |
Intellectual Developmental Disorder With Autism And Speech Delay |
|
Motor stereotypy, Impaired social interactions |
OMIM:606053 |
Lymphoblastic Leukemia, Acute, With Lymphomatous Features |
|
T-cell acute lymphoblastic leukemias, Acute lymphoblastic leukemia, Lymphoma |
OMIM:247640 |
Tumor Predisposition Syndrome 2 |
|
Adenomatous colonic polyposis, Juvenile type ovarian granulosa cell tumor, Colon cancer, Uveal me... |
OMIM:619975 |
Hereditary Geniospasm |
|
Chin myoclonus, Abnormal social behavior |
ORPHA:53372 |
Nut Midline Carcinoma |
|
Ewing sarcoma, Neoplasm, Neuroblastoma, Oropharyngeal squamous cell carcinoma, Pancreatic squamou... |
ORPHA:443167 |
Hereditary Breast And Ovarian Cancer Syndrome |
|
Neoplasm of the pancreas, Ovarian neoplasm, Breast carcinoma, Prostate cancer, Melanoma, Abnormal... |
ORPHA:145 |
Lichen Sclerosus Et Atrophicus |
|
Squamous cell carcinoma, Carcinoma |
OMIM:151590 |
Mismatch Repair Cancer Syndrome 2 |
|
T-cell acute lymphoblastic leukemias, Colon cancer, Glioblastoma multiforme |
OMIM:619096 |
Familial Adenomatous Polyposis 4 |
|
Papilloma, Thyroid adenoma, Astrocytoma, Stomach cancer |
OMIM:617100 |
Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Adenomatous colonic polyposis, Papilloma, Neoplasm of the rectum, Multiple gastric polyps, Stomac... |
ORPHA:480536 |
Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer |
|
Adenomatous colonic polyposis, Colon cancer, Acute myeloid leukemia |
OMIM:246470 |
Paragangliomas 3 |
|
Glomus jugular tumor, Neoplasm, Extraadrenal pheochromocytoma, Elevated circulating catecholamine... |
OMIM:605373 |
Juvenile Myelomonocytic Leukemia |
|
Juvenile myelomonocytic leukemia |
OMIM:607785 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hepatomegaly, Lymphocytosis, Splenomegaly, Lymphoproliferative disorder, Follicular hyperplasia, ... |
OMIM:614470 |
Paragangliomas 1 |
|
Glomus jugular tumor, Extraadrenal pheochromocytoma, Glomus tympanicum paraganglioma, Vagal parag... |
OMIM:168000 |
Meningioma, Familial, Susceptibility To |
|
Meningioma |
OMIM:607174 |
Myeloproliferative Disease, Autosomal Recessive |
|
Myeloproliferative disorder |
OMIM:254700 |
Paragangliomas 2 |
|
Glomus jugular tumor, Neoplasm, Glomus tympanicum paraganglioma, Vagal paraganglioma, Chemodectoma |
OMIM:601650 |
Rhabdomyosarcoma, Embryonal, 2 |
|
Pleuropulmonary blastoma, Nephroblastoma, Thyroid nodule, Embryonal rhabdomyosarcoma, Ovarian the... |
OMIM:180295 |
Enchondromatosis, Multiple, Ollier Type |
|
Hemangioma, Multiple enchondromatosis, Chondrosarcoma |
OMIM:166000 |
Attenuated Familial Adenomatous Polyposis |
|
Adenomatous colonic polyposis, Papilloma, Large intestinal polyposis, Duodenal polyposis, Adenoca... |
ORPHA:220460 |
Mismatch Repair Cancer Syndrome 4 |
|
Adenomatous colonic polyposis, Non-Hodgkin lymphoma, Colon cancer, Glioblastoma multiforme, Astro... |
OMIM:619101 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Multiple myeloma, Hemophagocytosis, Hepatic failure, T-cell lymphoma, Pancytopenia, Burkitt lymph... |
ORPHA:158057 |
Hypereosinophilic Syndrome, Idiopathic |
|
Myeloproliferative disorder, Eosinophilia, Hepatomegaly, Splenomegaly |
OMIM:607685 |
Hereditary Leiomyomatosis And Renal Cell Cancer |
|
Multiple cutaneous leiomyomas, Uterine leiomyosarcoma, Renal cell carcinoma, Cutaneous leiomyoma,... |
OMIM:150800 |
Fanconi Anemia, Complementation Group G |
|
Myelodysplasia, Neutropenia, Anemia, Thrombocytopenia, Leukemia |
OMIM:614082 |
Autism, Susceptibility To, 20 |
|
Impaired social interactions |
OMIM:618830 |
Paragangliomas 4 |
|
Glomus jugular tumor, Neoplasm, Neuroblastoma, Gastrointestinal stroma tumor, Paraganglioma of he... |
OMIM:115310 |
Axin2-Related Attenuated Familial Adenomatous Polyposis |
|
Adenomatous colonic polyposis, Neoplasm of the rectum, Colon cancer, Colorectal polyposis |
ORPHA:401911 |
Pancreatic Cancer, Susceptibility To, 5 |
|
Melanoma, Pancreatic adenocarcinoma |
OMIM:618680 |
Melanoma-Pancreatic Cancer Syndrome |
|
Oropharyngeal squamous cell carcinoma, Melanoma, Pancreatic squamous cell carcinoma, Squamous cel... |
OMIM:606719 |
Endometrial Cancer |
|
Endometrial carcinoma |
OMIM:608089 |
Squamous Cell Carcinoma Of The Esophagus |
|
Lymphadenopathy, Esophageal carcinoma |
ORPHA:99977 |
Cutaneous Neuroendocrine Carcinoma |
|
Multiple myeloma, Carcinoid tumor, Chronic noninfectious lymphadenopathy, Lymphoid leukemia, Basa... |
ORPHA:79140 |
Cowden Syndrome |
|
High palate, Furrowed tongue, Enlarged polycystic ovaries, Meningioma, Neoplasm of the thyroid gl... |
ORPHA:201 |
Leiomyoma, Uterine |
|
Uterine leiomyoma |
OMIM:150699 |
Generalized Eruptive Histiocytosis |
|
Histiocytosis, Leukemia, Hypereosinophilia |
ORPHA:157991 |
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia |
|
Unilateral vestibular schwannoma, Carcinoma |
OMIM:603641 |
Polyposis Syndrome, Hereditary Mixed, 2 |
|
Adenomatous colonic polyposis, Colon cancer, Juvenile colonic polyposis, Hyperplastic colonic pol... |
OMIM:610069 |
Testicular Germ Cell Tumor |
|
Choriocarcinoma, Embryonal neoplasm, Azoospermia, Teratoma |
OMIM:273300 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Leukopenia, Monocytosis, Lymphoma, Myelodysplasia, Refractory anemia, Bone marrow hypocellularity... |
OMIM:616871 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Splenomegaly, Myelodysplasia, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, A... |
ORPHA:231401 |
Mantle Cell Lymphoma |
|
B-cell lymphoma, Lymphadenopathy, Abnormality of the gastrointestinal tract, Splenomegaly |
ORPHA:52416 |
Cowden Syndrome 7 |
|
Papilloma, Breast carcinoma, Hemangioma, Trichilemmoma, Papillary thyroid carcinoma, Intestinal p... |
OMIM:616858 |
Unclassified Myelodysplastic Syndrome |
|
Leukocytosis, Multiple lineage myelodysplasia, Myelodysplasia, Bone marrow hypocellularity, Acute... |
ORPHA:98827 |
Lymphedema, Primary, With Myelodysplasia |
|
Myelodysplasia, Pancytopenia, Verrucae, Leukemia, Acute myeloid leukemia, Decreased CD4:CD8 ratio |
OMIM:614038 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Increased mean corpuscular volume, Myelodysplasia, Thrombocytopenia, Acute myeloid leukemia |
OMIM:252270 |
Maffucci Syndrome |
|
Chondrosarcoma, Pituitary adenoma, Ovarian neoplasm, Parathyroid adenoma, Breast carcinoma, Exost... |
ORPHA:163634 |
Autism, Susceptibility To, X-Linked 2 |
|
Lack of peer relationships, Motor stereotypy, Abnormal nonverbal communicative behavior |
OMIM:300495 |
Breast-Ovarian Cancer, Familial, Susceptibility To, 2 |
|
Ovarian neoplasm, Breast carcinoma |
OMIM:612555 |
Breast-Ovarian Cancer, Familial, Susceptibility To, 1 |
|
Ovarian neoplasm, Breast carcinoma |
OMIM:604370 |
Wt Limb-Blood Syndrome |
|
Hypoplastic anemia, Pancytopenia, Cryptorchidism, Thrombocytopenia, Leukemia |
OMIM:194350 |
Breast-Ovarian Cancer, Familial, Susceptibility To, 3 |
|
Ovarian carcinoma, Breast carcinoma |
OMIM:613399 |
Familial Adenomatous Polyposis 2 |
|
Adenomatous colonic polyposis, Colon cancer |
OMIM:608456 |
Medullary Thyroid Carcinoma |
|
Medullary thyroid carcinoma, Primary hyperparathyroidism, Pheochromocytoma, Neoplasm of the lung,... |
ORPHA:1332 |
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 2 |
|
Aplastic anemia, Myeloid leukemia, Pancytopenia, Bone marrow hypocellularity, Premature graying o... |
OMIM:614743 |
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 |
Primary Erythromelalgia |
|
Leukemia |
ORPHA:90026 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Myelodysplasia, Acute lymphoblastic leukemia, Neutropenia |
OMIM:610738 |
Carney Complex, Type 1 |
|
Pituitary adenoma, Elevated circulating growth hormone concentration, Thyroid carcinoma, Myxoid s... |
OMIM:160980 |
Ovarian Cancer |
|
Dysgerminoma, Breast carcinoma, Ovarian papillary adenocarcinoma |
OMIM:167000 |
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Increased mean corpuscular volume, Pancytopenia, Myelodysplasia, Neutropenia, Bone marrow hypocel... |
OMIM:619041 |
Cronkhite-Canada Syndrome |
|
Neoplasm, Malabsorption, Hepatomegaly, Stomach cancer, Splenomegaly, Furrowed tongue, Intestinal ... |
ORPHA:2930 |
Spina Bifida-Hypospadias Syndrome |
|
Spinal dysraphism, Spina bifida |
ORPHA:3176 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Breast carcinoma, Male pseudohermaphroditism, Endometrial carcinoma, Female external genitalia in... |
ORPHA:90790 |
Amed Syndrome, Digenic |
|
Hypoplasia of the uterus, Leukopenia, Myelodysplasia, Bone marrow hypocellularity, Anemia, Thromb... |
OMIM:619151 |
Gonadoblastoma |
|
Gonadoblastoma |
OMIM:424500 |
Ovarian Fibromata |
|
Ovarian fibroma |
OMIM:166970 |
Birt-Hogg-Dube Syndrome |
|
Fibrofolliculoma, Renal neoplasm, Large intestinal polyposis, Multiple lipomas, Renal cell carcin... |
OMIM:135150 |
Intellectual Developmental Disorder, Autosomal Recessive 66 |
|
Shyness, Gait ataxia, Aggressive behavior |
OMIM:618221 |
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 |
Paragangliomas 6 |
|
Elevated circulating catecholamine level, Paraganglioma |
OMIM:618464 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Anisocytosis, Leukopenia, Multiple lineage myelodysplasia, Macrocytic anemia, Erythroid hypoplasi... |
ORPHA:86841 |
Immunodeficiency 21 |
|
Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemia, Myeloid leukemia, Myelodys... |
OMIM:614172 |
Thyroid Dyshormonogenesis 3 |
|
Increased T3/T4 ratio, Goiter, Compensated hypothyroidism, Thyroid carcinoma |
OMIM:274700 |
Ganglioneuroma |
|
Neoplasm of the adrenal gland, Abnormality of the adrenal glands, Multiple intestinal neurofibrom... |
ORPHA:251992 |
Thyroid Cancer, Nonmedullary, 1 |
|
Goiter, Papillary thyroid carcinoma, Non-medullary thyroid carcinoma |
OMIM:188550 |
Teratoma, Pineal |
|
Abnormal abdomen morphology, Teratoma |
OMIM:273120 |
Desmoid Tumor |
|
Malabsorption, Desmoid tumors, Intestinal obstruction, Fibroma, Intestinal polyposis, Gastrointes... |
ORPHA:873 |
Fanconi Anemia, Complementation Group D1 |
|
Bone marrow hypocellularity, T-cell acute lymphoblastic leukemias, Anal atresia, Acute myeloid le... |
OMIM:605724 |
Thyroid Lymphoma |
|
Hyperthyroidism, Lymphoma, Hypothyroidism, Hashimoto thyroiditis, Dysphagia, Goiter, Lymphadenopathy |
ORPHA:97285 |
Syndromic Recessive X-Linked Ichthyosis |
|
Abnormal stomach morphology, Testicular seminoma, Hypogonadism, Cryptorchidism, Acute leukemia |
ORPHA:281090 |
Pancreatic Cancer |
|
Neoplasm of the pancreas |
OMIM:260350 |
Polyposis, Intestinal, With Multiple Exostoses |
|
Multiple exostoses, Intestinal polyposis |
OMIM:175450 |
Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Acute monocytic leukemia, Eosinophilia, Monocytosis, Congenital agranulocytosis, Thrombocytosis, ... |
OMIM:202700 |
Gestational Choriocarcinoma |
|
Choriocarcinoma, Neoplasm, Trophoblastic tumor |
ORPHA:99926 |
Apc-Related Attenuated Familial Adenomatous Polyposis |
|
Adrenocortical adenoma, Odontoma, Adrenocortical carcinoma, Lipoma, Multiple gastric polyps, Duod... |
ORPHA:247806 |
Carcinoma Of Esophagus |
|
Esophageal neoplasm, Gastroesophageal reflux, Barrett esophagus, Dysphagia, Abnormal intestine mo... |
ORPHA:70482 |
Intellectual Developmental Disorder, Autosomal Recessive 58 |
|
Motor stereotypy, Self-injurious behavior, Spastic diplegia, Choreoathetosis, Aggressive behavior |
OMIM:617270 |
Immunodeficiency, Common Variable, 13 |
|
Acute lymphoblastic leukemia, B lymphocytopenia, Pancytopenia |
OMIM:616873 |
Mismatch Repair Cancer Syndrome 1 |
|
Adenomatous colonic polyposis, Plexiform neurofibroma, Medulloblastoma, Neuroblastoma, Pleomorphi... |
OMIM:276300 |
Peutz-Jeghers Syndrome |
|
Neoplasm of the pancreas, Intestinal bleeding, Uterine neoplasm, Multiple gastric polyps, Breast ... |
OMIM:175200 |
Familial Colorectal Cancer Type X |
|
Neoplasm of the pancreas, Neoplasm of the rectum, Pituitary adenoma, Neoplasm of the colon, Uteri... |
ORPHA:440437 |
Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors |
|
Euthyroid multinodular goiter, Papillary thyroid carcinoma |
OMIM:138800 |
Insulinomatosis And Diabetes Mellitus |
|
Multiple pancreatic beta-cell adenomas, Insulinoma, Type II diabetes mellitus, Hyperinsulinemic h... |
OMIM:147630 |
Von Hippel-Lindau Syndrome |
|
Neoplasm of the pancreas, Pancreatic cysts, Papillary cystadenoma of the epididymis, Pheochromocy... |
OMIM:193300 |
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome |
|
Thick eyebrow, High, narrow palate, Breast carcinoma, Melanoma, Endometrial carcinoma |
ORPHA:457212 |
Adenocarcinoma Of The Esophagus |
|
Lymphadenopathy, Gastroesophageal reflux, Esophageal carcinoma, Barrett esophagus |
ORPHA:99976 |
Gardner Syndrome |
|
Hepatoblastoma, Adrenocortical adenoma, Odontoma, Small intestine carcinoid, Adrenocortical carci... |
ORPHA:79665 |
Acquired Idiopathic Sideroblastic Anemia |
|
Anemia of inadequate production, Granulocytopenia, Hepatomegaly, Neutropenia, Leukocytosis, Splen... |
ORPHA:75564 |
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive |
|
Motor stereotypy, Self-injurious behavior, Poor eye contact, Involuntary movements, Spasticity, I... |
OMIM:617820 |
Lynch Syndrome |
|
Neoplasm of the rectum, Neoplasm of the pancreas, Pituitary adenoma, Malabsorption, Ovarian neopl... |
ORPHA:144 |
Testicular Germ Cell Tumor 1 |
|
Germ cell neoplasia |
OMIM:300228 |
Familial Adenomatous Polyposis |
|
Cholangiocarcinoma, Pancreatitis, Hepatoblastoma, Stomach cancer, Soft tissue neoplasm, Odontoma,... |
ORPHA:733 |
Familial Multinodular Goiter |
|
Sertoli cell neoplasm, Thyroid carcinoma, Ovarian neoplasm, Pleuropulmonary blastoma, Medulloepit... |
ORPHA:276399 |
Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Splenomegaly, Acute myelomonocytic leukemia, Abnormal macrophage morphology, ... |
ORPHA:2585 |
Solitary Fibrous Tumor/Hemangiopericytoma |
|
Genital neoplasm, Neoplasm, Neoplasm of the liver, Uterine neoplasm, Prostate cancer, Neoplasm of... |
ORPHA:2126 |
Immunodeficiency 75 |
|
Hepatosplenomegaly, Follicular hyperplasia, Lymphoma, Decreased proportion of class-switched memo... |
OMIM:619126 |
Pancreatic Cancer, Susceptibility To, 1 |
|
Pancreatic adenocarcinoma |
OMIM:606856 |
Mutyh-Related Attenuated Familial Adenomatous Polyposis |
|
Adenomatous colonic polyposis, Large intestinal polyposis, Adenocarcinoma of the colon, Rectal po... |
ORPHA:247798 |
Cowden Syndrome 1 |
|
Hydrocele testis, Thyroiditis, High palate, Lymphopenia, Breast carcinoma, Fibroadenoma of the br... |
OMIM:158350 |
Anaplastic Thyroid Carcinoma |
|
Anaplastic thyroid carcinoma, Tracheoesophageal fistula, Neoplasm of the lung, Malignant neoplasm... |
ORPHA:142 |
Schöpf-Schulz-Passarge Syndrome |
|
Ovarian neoplasm, Sparse hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Squamous cell carcino... |
ORPHA:50944 |
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Squamous cell carcinoma, Multinodular goiter, Nail dystrophy, Alopecia |
OMIM:618373 |
Thyroid Cancer, Nonmedullary, 4 |
|
Goiter, Non-medullary thyroid carcinoma |
OMIM:616534 |
Pancreatic Cancer, Susceptibility To, 2 |
|
Neoplasm of the pancreas |
OMIM:613347 |
Combined Oxidative Phosphorylation Deficiency 38 |
|
Wolff-Parkinson-White syndrome, Depressed nasal bridge, Abnormal mitochondrial morphology, Decrea... |
OMIM:618378 |
Fetal Cytomegalovirus Syndrome |
|
Anemia, Hepatomegaly, Splenomegaly |
ORPHA:294 |
Chronic Myeloid Leukemia |
|
Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal granulocyte morphology, Thrombo... |
ORPHA:521 |
Neural Tube Defects, X-Linked |
|
Spina bifida, Anencephaly |
OMIM:301410 |
Anencephaly 1 |
|
Spina bifida, Anencephaly |
OMIM:206500 |
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1 |
|
Gastroesophageal reflux, Cirrhosis, Aplastic anemia, Myeloid leukemia, Mediastinal lymphadenopath... |
OMIM:614742 |
Aggressive Systemic Mastocytosis |
|
Decreased liver function, Malabsorption, Neutropenia, Abnormal mast cell morphology, Leukocytosis... |
ORPHA:98850 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Leukemia, Meningioma, Nephroblastoma |
OMIM:602501 |
Smith-Magenis syndrome |
|
Motor stereotypy, Self-mutilation |
DECIPHER:8 |
Prostate Cancer |
|
Prostate cancer |
OMIM:176807 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Myeloproliferative disorder, Thrombocytopenia, Abnormal... |
ORPHA:3226 |
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome |
|
Impaired social interactions, Self-injurious behavior, Stereotypical hand wringing, Hyperkinetic ... |
ORPHA:397933 |
Cowden Syndrome 6 |
|
Hydrocele testis, Thyroiditis, High palate, Breast carcinoma, Fibroadenoma of the breast, Ovarian... |
OMIM:615109 |
Hirschsprung Disease |
|
Intestinal obstruction, Intestinal polyposis, Functional abnormality of the gastrointestinal trac... |
ORPHA:388 |
Barth Syndrome |
|
Dilated cardiomyopathy, Abnormal mitochondrial morphology |
ORPHA:111 |
Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy, Sarcoma |
ORPHA:66661 |
Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Abnormal dense granule content, Neuroblastoma, Acute monocytic leukemia, Lymphoma, Myelodysplasia... |
OMIM:601399 |
Familial Adenomatous Polyposis 1 |
|
Adenomatous colonic polyposis, Medulloblastoma, Hepatoblastoma, Multiple gastric polyps, Fibroade... |
OMIM:175100 |
Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias, Pancytopenia |
OMIM:620044 |
Familial Melanoma |
|
Neoplasm of the pancreas, Melanoma, Neoplasm of the breast, Neoplasm of the stomach, Abnormal hai... |
ORPHA:618 |
Lig4 Syndrome |
|
Malabsorption, Type II diabetes mellitus, Hepatomegaly, Hypoplasia of penis, Leukocytosis, Lympho... |
ORPHA:99812 |
Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Neutropenia, Acute myelomonocytic leukemia, Pancytopenia, Anemia, Thrombocyto... |
OMIM:159550 |
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities |
|
Motor stereotypy |
OMIM:617787 |
Squamous Cell Carcinoma, Head And Neck |
|
Squamous cell carcinoma |
OMIM:275355 |
Thyroid Dyshormonogenesis 5 |
|
Hypothyroidism, Goiter |
OMIM:274900 |
Thyroid Dyshormonogenesis 4 |
|
Hypothyroidism, Goiter |
OMIM:274800 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
B-cell lymphoma, Hepatomegaly, Breast carcinoma, Splenomegaly, Lymphoma, Lymphadenopathy |
ORPHA:86893 |
Muir-Torre Syndrome |
|
Malignant genitourinary tract tumor, Ovarian neoplasm, Breast carcinoma, Benign gastrointestinal ... |
OMIM:158320 |
Obesity, Hyperphagia, And Developmental Delay |
|
Motor stereotypy, Poor eye contact |
OMIM:613886 |
Autism, Susceptibility To, 3 |
|
Motor stereotypy, Impaired ability to form peer relationships, Abnormal nonverbal communicative b... |
OMIM:608049 |
Immunodeficiency 84 |
|
B-cell lymphoma, Perianal abscess, B lymphocytopenia, Splenomegaly |
OMIM:619437 |
Epidermodysplasia Verruciformis, Susceptibility To, 3 |
|
Squamous cell carcinoma, Basal cell carcinoma |
OMIM:618267 |
Dohle Bodies And Leukemia |
|
Leukocyte inclusion bodies, Anemia, Acute myeloid leukemia |
OMIM:223350 |
Turcot Syndrome With Polyposis |
|
Melena, Hepatoblastoma, Soft tissue neoplasm, Hematochezia, Basal cell carcinoma, Intestinal poly... |
ORPHA:99818 |
Pendred Syndrome |
|
Goiter, Compensated hypothyroidism, Thyroid carcinoma |
OMIM:274600 |
Progressive Non-Fluent Aphasia |
|
Abnormal lower motor neuron morphology, Astrocytosis |
ORPHA:100070 |
Undifferentiated Pleomorphic Sarcoma |
|
Soft tissue sarcoma |
ORPHA:2023 |
Multiple Endocrine Neoplasia, Type Iia |
|
Medullary thyroid carcinoma, Parathyroid adenoma, Increased circulating cortisol level, Pheochrom... |
OMIM:171400 |
Thymoma |
|
Neoplasm, Non-Hodgkin lymphoma, Neoplasm of the gastrointestinal tract, Neoplasm of the lung, Pro... |
ORPHA:99867 |
Peutz-Jeghers Syndrome |
|
Neoplasm of the rectum, Stomach cancer, Neoplasm of the small intestine, Rectal prolapse, Gastroi... |
ORPHA:2869 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Hepatomegaly, Splenomegaly |
ORPHA:2274 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Multiple myeloma, Hepatomegaly, Neutrophilia, Lymphadenopathy, Abnormal mast cell morphology, Spl... |
ORPHA:98849 |
Polyposis, Intestinal, Scattered And Discrete |
|
Discrete intestinal polyps |
OMIM:175400 |
Sessile Serrated Polyposis Cancer Syndrome |
|
Serrated intestinal polyps |
OMIM:617108 |
Thyroid Dyshormonogenesis 2A |
|
Hypothyroidism, Thyroid defect in oxidation and organification of iodide, Goiter |
OMIM:274500 |
Cowden Syndrome 5 |
|
Hydrocele testis, Thyroiditis, High palate, Breast carcinoma, Hyperthyroidism, Ovarian cyst, Hypo... |
OMIM:615108 |
Essential Thrombocythemia |
|
Myelodysplasia, Acute leukemia, Abnormal platelet morphology, Splenomegaly |
ORPHA:3318 |
Disseminated Superficial Actinic Porokeratosis |
|
Squamous cell carcinoma |
ORPHA:79152 |
Hsd10 Mitochondrial Disease |
|
Hypertrophic cardiomyopathy, Abnormal mitochondrial morphology, Progressive neurologic deteriorat... |
OMIM:300438 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Lymphopenia, Recurrent infection of the gastrointestinal tract, Hemangioma, Eosinophilia, Monocyt... |
ORPHA:486 |
Thyroid Hormone Resistance, Generalized, Autosomal Dominant |
|
Goiter, Increased circulating free T3, Impaired sensitivity to thyroid hormone |
OMIM:188570 |
Storage Pool Platelet Disease |
|
Myelodysplasia, Acute leukemia, Decreased mean platelet volume |
OMIM:185050 |
Multiple Endocrine Neoplasia Type 1 |
|
Pituitary growth hormone cell adenoma, Thymoma, Increased serum serotonin, Intestinal carcinoid, ... |
ORPHA:652 |
Nk-Cell Enteropathy |
|
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Intestinal polyp, Lymphoproliferativ... |
ORPHA:263665 |
Cheilitis Glandularis |
|
Squamous cell carcinoma, Neoplasm, Abnormal salivary gland morphology |
ORPHA:1221 |
Immunodeficiency 76 |
|
B-cell lymphoma, Colitis, Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Lympha... |
OMIM:619164 |
Myelofibrosis |
|
Myeloproliferative disorder, Splenomegaly |
OMIM:254450 |
Focal Cortical Dysplasia, Type Ii |
|
Astrocytosis |
OMIM:607341 |
Alpha-Heavy Chain Disease |
|
Malabsorption, Hepatomegaly, Splenomegaly, Lymphoma, Abnormality of the small intestine, Anemia, ... |
ORPHA:100025 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Diffuse leiomyomatosis, Esophageal neoplasm, Uterine neoplasm, Gastroesophageal reflux, Morpholog... |
ORPHA:1018 |
Chilblain Lupus |
|
Chronic myelomonocytic leukemia |
ORPHA:90280 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
External genital hypoplasia, Hypospadias, Ovotestis, Ambiguous genitalia, Clitoral hypertrophy, D... |
OMIM:610644 |
Deiodinase, iodothyronine, type I |
|
Goiter, Euthyroid hyperthyroxinemia |
OMIM:147892 |
Thyroid Hormone Plasma Membrane Transport Defect |
|
Goiter, Euthyroid hyperthyroxinemia |
OMIM:188560 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Abnormal social behavior |
ORPHA:436151 |
Immunodeficiency 16 |
|
Kaposi's sarcoma, Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly |
OMIM:615593 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Hepatoblastoma, Teratoma, Macroglossia, Micropenis, Bicornuate uterus, Hypospadias, Splenopancrea... |
OMIM:269150 |
N-Acetylaspartate Deficiency |
|
Motor stereotypy, Truncal ataxia, Self-mutilation |
OMIM:614063 |
Mccune-Albright Syndrome |
|
Pituitary adenoma, Precocious puberty, Elevated circulating growth hormone concentration, Hyperth... |
OMIM:174800 |
Desmoplastic Small Round Cell Tumor |
|
Neoplasm of the pancreas, Ileus, Ovarian neoplasm, Neoplasm of the central nervous system, Neopla... |
ORPHA:83469 |
Nasu-Hakola Disease |
|
Functional abnormality of the gastrointestinal tract, Acute leukemia |
ORPHA:2770 |
Acute Monoblastic/Monocytic Leukemia |
|
Lymphocytosis, Leukocytosis, Hypochromic anemia, Acute monocytic leukemia, Cervical lymphadenopat... |
ORPHA:514 |
Burkitt Lymphoma |
|
Abnormality of the lymph nodes, Abnormality of the spleen, Abnormality of the pancreas, Intestina... |
ORPHA:543 |
Peripheral Primitive Neuroectodermal Tumor |
|
Neoplasm of the pancreas, Precocious puberty, Uterine neoplasm, Ovarian neoplasm, Peripheral prim... |
ORPHA:370348 |
46,Xy Sex Reversal 10 |
|
Sex reversal, Micropenis, Ambiguous genitalia, Dysgerminoma, Decreased testicular size, Gonadobla... |
OMIM:616425 |
Multiple Endocrine Neoplasia, Type Iv |
|
Pituitary adenoma, Elevated circulating growth hormone concentration, Parathyroid adenoma, Carcin... |
OMIM:610755 |
Duplication Of The Pituitary Gland |
|
Abnormality of the pituitary gland, Volvulus, Cleft palate, Teratoma |
ORPHA:314621 |
Pick Disease Of Brain |
|
Motor stereotypy, Apathy, Emotional blunting, Diminished motivation, Irritability |
OMIM:172700 |
Grfoma |
|
Neoplasm of the pancreas, Cholelithiasis, Pituitary adenoma, Abnormality of the thyroid gland, El... |
ORPHA:97261 |
Fetal Iodine Deficiency Disorder |
|
Congenital hypothyroidism, Congenital goiter |
OMIM:228355 |
Leukemia, Chronic Lymphocytic |
|
Chronic lymphatic leukemia |
OMIM:151400 |
Leukemia, Chronic Lymphocytic, Susceptibility To, 2 |
|
Chronic lymphatic leukemia |
OMIM:109543 |
Lymphoproliferative Syndrome 3 |
|
Hodgkin lymphoma, Lymphoproliferative disorder, Hepatosplenomegaly, Lymphadenopathy, Reduced natu... |
OMIM:618261 |
Chromosome 14Q32 Duplication Syndrome, 700-Kb |
|
Myeloid leukemia |
OMIM:616604 |
Immunodeficiency 36 |
|
B-cell lymphoma, Lymphopenia, Enlarged tonsils, Splenomegaly, B lymphocytopenia, Chronic lymphati... |
OMIM:616005 |
Acute Panmyelosis With Myelofibrosis |
|
Lymphocytosis, Splenomegaly, Acute myelomonocytic leukemia, Pancytopenia, Bone marrow hypocellula... |
ORPHA:86843 |
Carney Complex |
|
Neoplasm of the rectum, Pituitary growth hormone cell adenoma, Enchondroma, Ovarian cyst, Increas... |
ORPHA:1359 |
Gcgr-Related Hyperglucagonemia |
|
Neoplasm of the pancreas, Cholelithiasis, Glucagonoma |
ORPHA:438274 |
Ollier Disease |
|
Chondrosarcoma, Neoplasm, Precocious puberty, Lymphangioma, Anemia, Hemangioma, Multiple enchondr... |
ORPHA:296 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Splenomegaly, B Acute Lymphoblast... |
OMIM:619824 |
Hodgkin Lymphoma |
|
Neoplasm, Hepatomegaly, Splenomegaly, Lymphoma, Lymphadenopathy |
ORPHA:98293 |
Gonadoblastoma |
|
Ovarian gonadoblastoma, Hirsutism, Gonadal dysgenesis with female appearance, male, Female extern... |
ORPHA:206484 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
B-cell lymphoma, Hodgkin lymphoma, Splenomegaly, Lymphoproliferative disorder, Mediastinal lympha... |
OMIM:300853 |
Subependymoma |
|
Neoplasm of the liver, Ovarian neoplasm, Supratentorial neoplasm, Spinal cord tumor, Neoplasm of ... |
ORPHA:251639 |
Ependymoma |
|
Neoplasm of the liver, Ovarian neoplasm, Supratentorial neoplasm, Spinal cord tumor, Neoplasm of ... |
ORPHA:251636 |
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Agenesis Of The Corpus Callosum |
|
Primary hypothyroidism, Goiter |
OMIM:225040 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Adenomatous colonic polyposis, Small intestinal polyposis, Multiple gastric polyps, Duodenal poly... |
ORPHA:329971 |
Acquired Ichthyosis |
|
Neoplasm, Multiple myeloma, Sarcoma, Lymphoma |
ORPHA:454 |
Cancer-Associated Retinopathy |
|
Neoplasm of the pancreas, Thymoma, Malignant genitourinary tract tumor, Hodgkin lymphoma, Uterine... |
ORPHA:71505 |
Familial Infantile Bilateral Striatal Necrosis |
|
Ataxia, Basal ganglia gliosis, Astrocytosis, Choreoathetosis, Gait ataxia |
ORPHA:225154 |
Schopf-Schulz-Passarge Syndrome |
|
Sparse hair, Squamous cell carcinoma, Basal cell carcinoma, Poroma, Apocrine hidrocystoma |
OMIM:224750 |
Laryngeal Neuroendocrine Tumor |
|
Increased serum serotonin, Adrenocorticotropic hormone excess, Inappropriate antidiuretic hormone... |
ORPHA:100083 |
Pyoderma Gangrenosum |
|
Myelodysplasia, Myeloid leukemia, Inflammation of the large intestine |
ORPHA:48104 |
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Motor stereotypy, Ataxia, Poor coordination, Chorea, Aggressive behavior, Paroxysmal dyskinesia |
OMIM:619150 |
Currarino Syndrome |
|
Hypoplasia of penis, Bifid scrotum, Male pseudohermaphroditism, Hypospadias, Sacrococcygeal terat... |
ORPHA:1552 |
Huntington Disease |
|
Bradyphrenia, Apathy, Abnormality of the sense of smell, Depression, Mental deterioration, Anxiet... |
ORPHA:399 |
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination |
|
Motor stereotypy, Spasticity, Irritability |
OMIM:617393 |
Tyrosinemia Type 1 |
|
Acute hepatic failure, Hepatocellular carcinoma, Hepatomegaly, Splenomegaly |
ORPHA:882 |
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease |
|
Squamous cell carcinoma, Recurrent cutaneous abscess formation |
OMIM:613736 |
Sporadic Creutzfeldt-Jakob Disease |
|
Ataxia, Gliosis, Astrocytosis |
ORPHA:204 |
Diffuse Cutaneous Mastocytosis |
|
Hepatomegaly, Lymphocytosis, Myeloproliferative disorder, Abnormality of the spleen, Gastrointest... |
ORPHA:79456 |
Steinert Myotonic Dystrophy |
|
Cholelithiasis, Secondary hyperparathyroidism, Testicular atrophy, Decreased response to growth h... |
ORPHA:273 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Splenomegaly, Lymphoproliferative disorder, Chronic lymphatic leukemia, Autoimmune hemolytic anem... |
ORPHA:90033 |
Juvenile Polyposis Syndrome |
|
Small intestinal polyposis, Stomach cancer, Neoplasm of the small intestine, Hematochezia, Gastro... |
ORPHA:2929 |
Photomyoclonus, Diabetes Mellitus, Deafness, Nephropathy, And Cerebral Dysfunction |
|
Ataxia, Astrocytosis |
OMIM:172500 |
Frontotemporal Dementia With Motor Neuron Disease |
|
Apathy, Depression, Abnormal mitochondrial morphology, Disinhibition, Frontotemporal dementia |
ORPHA:275872 |
Palmoplantar Carcinoma, Multiple Self-Healing |
|
Squamous cell carcinoma, Nail dystrophy, Carcinoma |
OMIM:615225 |
Ring Chromosome 12 Syndrome |
|
Hirsutism, Cryptorchidism, High, narrow palate, Hemangioma, Glandular hypospadias, Breast hypopla... |
ORPHA:1439 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hodgkin lymphoma, Hepatomegaly, Coombs-positive hemolytic anemia, Splenomegaly, Autoimmune thromb... |
OMIM:619375 |
Noonan Syndrome 6 |
|
Sparse hair, Juvenile myelomonocytic leukemia, Long eyebrows, Cryptorchidism, Curly hair, Low pos... |
OMIM:613224 |
Refractory Anemia With Excess Blasts |
|
Anemia of inadequate production, Single lineage myelodysplasia, Leukocytosis, Abnormal mean corpu... |
ORPHA:86839 |
Retinoblastoma |
|
Ewing sarcoma, Retinoblastoma, Cleft palate, Lymphoma, Osteosarcoma, Leukemia, Pinealoma |
OMIM:180200 |
Punctate Palmoplantar Keratoderma Type 1 |
|
Esophageal neoplasm, Hodgkin lymphoma, Prostate cancer, Stomach cancer, Breast carcinoma, Melanom... |
ORPHA:79501 |
Goiter, Multinodular 2 |
|
Euthyroid multinodular goiter |
OMIM:300273 |
Squamous Cell Carcinoma Of The Anal Canal |
|
Neoplasm of the rectum, Papilloma, Neoplasm of the liver, Anal canal squamous cell carcinoma, Int... |
ORPHA:424019 |
Aicardi Syndrome |
|
Lipoma, Precocious puberty, Hepatoblastoma, Teratoma, Hiatus hernia, Cleft palate, Hemangioma, Me... |
OMIM:304050 |
Progressive Multifocal Leukoencephalopathy |
|
Dysmetria, Somatic sensory dysfunction, Gait ataxia, Abnormal astrocyte morphology, Paresthesia, ... |
ORPHA:217260 |
Gastrointestinal Stromal Tumor |
|
Intestinal obstruction, Neurofibromas, Gastrointestinal stroma tumor |
OMIM:606764 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Pheochromocytoma |
OMIM:171420 |
Ovarian Fibrothecoma |
|
Diffuse leiomyomatosis, Hirsutism, Fibrosarcoma, Abnormal endometrium morphology, Gonadal calcifi... |
ORPHA:314478 |
Leukemia, Chronic Myeloid |
|
Ph-positive acute lymphoblastic leukemia, Chronic myelogenous leukemia |
OMIM:608232 |
Carney Triad |
|
Gastrointestinal stroma tumor, Adrenocortical adenoma, Pheochromocytoma, Paraganglioma, Adrenal o... |
ORPHA:139411 |
Infantile Myofibromatosis |
|
Neoplasm of the pancreas, Abnormal hair morphology, Tracheoesophageal fistula, Neoplasm of the lu... |
ORPHA:2591 |
Primary Dystonia, Dyt13 Type |
|
Torticollis, Motor stereotypy, Action tremor, Involuntary movements, Postural tremor |
ORPHA:98807 |
Gist-Plus Syndrome |
|
Intestinal polyposis, Intussusception, Gastrointestinal stroma tumor |
OMIM:175510 |
Cortical Dysplasia, Complex, With Other Brain Malformations 2 |
|
Motor stereotypy, Hypertonia, Self-injurious behavior, Spastic tetraplegia |
OMIM:615282 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Ventricular septal defect, Spina bifida, Anencephaly, Hypoplastic left heart |
ORPHA:2476 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Motor stereotypy |
OMIM:300271 |
Progressive Osseous Heteroplasia |
|
Abnormality of the parathyroid gland, Sarcoma |
ORPHA:2762 |
Dermatofibrosarcoma Protuberans |
|
Fibrosarcoma, Neoplasm of the skin |
ORPHA:31112 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Hypospadias, Hemangioma, Intestinal polyp, Cryptorchidism, Lactose intolerance |
ORPHA:457485 |
Progressive Familial Intrahepatic Cholestasis |
|
Neoplasm, Malabsorption, Hepatomegaly, Splenomegaly, Cholestasis, Jaundice |
ORPHA:172 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Neoplasm, Lipoma, Thyroid carcinoma, Uterine neoplasm, Abnormal large intestine morphology, Narro... |
ORPHA:109 |
Acquired Hypertrichosis Lanuginosa |
|
Abnormal eyebrow morphology, Neoplasm, Generalized hirsutism, Ovarian neoplasm, Macroglossia, Hyp... |
ORPHA:2221 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Recurrent hand flapping, Aggressive behavior, Stereotypical body rocking, Poor coordination |
OMIM:309548 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Cranial nerve compression, Paraganglioma of head and neck, Paraganglioma, Extraadrenal pheochromo... |
ORPHA:276621 |
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy |
|
Abnormal calcium-phosphate regulating hormone level, Precocious puberty, Hyperthyroidism, Abnorma... |
ORPHA:457059 |
Neurofibromatosis, Type I |
|
Optic nerve glioma, Plexiform neurofibroma, Parathyroid adenoma, Pheochromocytoma, Rhabdomyosarco... |
OMIM:162200 |
Hyperkeratosis Lenticularis Perstans |
|
Squamous cell carcinoma, Basal cell carcinoma |
ORPHA:409 |
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
|
Increased mitochondrial number |
ORPHA:457050 |
Fraxe Intellectual Disability |
|
Clumsiness, Recurrent hand flapping, Aggressive behavior, Stereotypical body rocking |
ORPHA:100973 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Arachnoid hemangiomatosis, Cranial nerve compression, Paraganglioma of head and neck, Paraganglio... |
ORPHA:29072 |
Mastocytosis |
|
Splenomegaly, Mastocytosis, Sarcoma, Chronic leukemia, Gastrointestinal hemorrhage, Acute leukemia |
ORPHA:98292 |
Schinzel-Giedion Syndrome |
|
Annular pancreas, High palate, Hepatoblastoma, Teratoma, Streak ovary, Macroglossia, Micropenis, ... |
ORPHA:798 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Hurthle cell thyroid adenoma, Parathyroid adenoma, Parathyroid carcinoma, Nephroblastoma, Renal c... |
OMIM:145001 |
Follicular Lymphoma |
|
Splenomegaly, Mediastinal lymphadenopathy, Lymphoma, Abnormality of the peritoneum, Lymphadenopathy |
ORPHA:545 |
Juvenile Nasopharyngeal Angiofibroma |
|
Juvenile nasopharyngeal angiofibroma, Juvenile colonic polyposis |
ORPHA:289596 |
Gray Platelet Syndrome |
|
Myelodysplasia, Thrombocytopenia, Splenomegaly |
ORPHA:721 |
Behavioral Variant Of Frontotemporal Dementia |
|
Motor stereotypy, Apathy, Upper motor neuron dysfunction, Emotional blunting, Aggressive behavior... |
ORPHA:275864 |
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Motor stereotypy, Apathy, Babinski sign, Spasticity, Emotional lability |
OMIM:612069 |
Tessadori-Van Haaften Neurodevelopmental Syndrome 4 |
|
Supernumerary nipple, Micropenis, Myelodysplasia, Cryptorchidism, Leukemia, Highly arched eyebrow |
OMIM:619951 |
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Abnormality of the lymph nodes |
OMIM:136580 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Motor stereotypy, Tremor, Ataxia |
OMIM:617862 |
Pheochromocytoma |
|
Hemangioma, Neoplasm, Pheochromocytoma |
OMIM:171300 |
Dna2-Related Mitochondrial Dna Deletion Syndrome |
|
Depression, Decreased mitochondrial number |
ORPHA:352470 |
Permanent Congenital Hypothyroidism |
|
Macroglossia, Thyroid dysgenesis, Hypothyroidism, Goiter, Jaundice |
ORPHA:226292 |
Reticuloendotheliosis, X-Linked |
|
Anemia, Hepatosplenomegaly, Lymphadenopathy, Jaundice |
OMIM:312500 |
Familial Pancreatic Carcinoma |
|
Neoplasm of the liver, Exocrine pancreatic insufficiency, Extrahepatic cholestasis, Breast carcin... |
ORPHA:1333 |
Multiple Endocrine Neoplasia, Type I |
|
Pituitary adenoma, Elevated circulating growth hormone concentration, Glucagonoma, Parathyroid ad... |
OMIM:131100 |
Paraneoplastic Pemphigus |
|
Thymoma, B-cell lymphoma, Sarcoma |
ORPHA:63455 |
Epidermodysplasia Verruciformis, Susceptibility To, 2 |
|
Squamous cell carcinoma of the skin, Verruca plana |
OMIM:618231 |
Immunodeficiency 104 |
|
Gastroesophageal reflux, Hepatomegaly, Splenomegaly, T lymphocytopenia, Lymphadenopathy |
OMIM:608971 |
Alpha-Thalassemia |
|
Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Myelodysplasia, Microcytic a... |
ORPHA:846 |
Acute Promyelocytic Leukemia |
|
Acute promyelocytic leukemia |
OMIM:612376 |
Mosaic Variegated Aneuploidy Syndrome |
|
Neoplasm, Duodenal atresia, Cleft palate, Stomach cancer, Nephroblastoma, Rhabdomyosarcoma, Hypot... |
ORPHA:1052 |
Diethylstilbestrol Syndrome |
|
Hypoplasia of the uterus, Cryptorchidism, Breast carcinoma, Micropenis, Hypospadias, Melanoma, Ab... |
ORPHA:1916 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Astrocytosis |
OMIM:600795 |
Benign Schwannoma |
|
Abnormality of the adrenal glands, Vestibular schwannoma, Abnormal esophagus morphology, Intestin... |
ORPHA:252164 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Abnormality of the parathyroid morphology, Lipoma, Thyroid carcinoma, Parathyroid adenoma, Primar... |
ORPHA:99880 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Motor stereotypy, Ataxia, Bradykinesia, Resting tremor, Intention tremor, Myoclonus, Anxiety, Pan... |
OMIM:619725 |
Legius Syndrome |
|
Ovarian neoplasm, Male urethral meatus stenosis, Acute monocytic leukemia, Desmoid tumors, Nephro... |
ORPHA:137605 |
Gastrointestinal Stromal Tumor |
|
Neoplasm of the colon, Neoplasm of the rectum, Esophageal neoplasm, Gastrointestinal stroma tumor... |
ORPHA:44890 |
Waldenström Macroglobulinemia |
|
Malabsorption, Hepatomegaly, Splenomegaly, Normocytic anemia, Lymphoma, Abnormality of neutrophil... |
ORPHA:33226 |
Childhood Disintegrative Disorder |
|
Abnormal emotion/affect behavior, Anxiety, Motor stereotypy, Impaired social interactions |
ORPHA:168782 |
Lhermitte-Duclos Disease |
|
Ataxia, Enlarged cerebellum |
ORPHA:65285 |
Multiple Endocrine Neoplasia Type 2 |
|
Medullary thyroid carcinoma, Neuroma, Neoplasm of the liver, Parathyroid adenoma, Paraganglioma o... |
ORPHA:653 |
Hyperprolinemia, Type I |
|
Motor stereotypy, Ataxia, Aggressive behavior |
OMIM:239500 |
Blepharochalasis And Double Lip |
|
Goiter |
OMIM:109900 |
Parathyroid Carcinoma |
|
Abnormality of the parathyroid morphology, Lipoma, Thyroid carcinoma, Parathyroid carcinoma, Prim... |
ORPHA:143 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Anal canal squamous carcinoma, B lymphocytopenia, T lymphocytopenia, Squamous cell carcinoma, Ver... |
ORPHA:217390 |
Mccune-Albright Syndrome |
|
Abnormal endocrine physiology, Pancreatitis, Benign gastrointestinal tract tumors, Ovarian cyst, ... |
ORPHA:562 |
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements |
|
Self-injurious behavior, Stereotypical hand wringing, Chorea |
OMIM:618760 |
Tuberous Sclerosis Complex |
|
Subependymal nodules, Pituitary adenoma, Cortical tubers, Parathyroid adenoma, Carcinoid tumor, P... |
ORPHA:805 |
Familial Thrombocytosis |
|
Chronic myelogenous leukemia, Splenomegaly, Thrombocytosis, Myelodysplasia, Acute myeloid leukemia |
ORPHA:71493 |
Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
Ovarian Fibroma |
|
Odontogenic keratocysts of the jaw, Gonadal calcification, Basal cell carcinoma, Ovarian fibroma,... |
ORPHA:314473 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Increased fecal coproporphyrin 3, Myeloproliferative disorder, Abnormal erythrocyte enzyme level |
ORPHA:100924 |
Fanconi Anemia, Complementation Group E |
|
Neutropenia, Hypergonadotropic hypogonadism, Anemia, Thrombocytopenia, Pancytopenia, Cryptorchidi... |
OMIM:600901 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Abnormal mitochondrial morphology |
OMIM:618528 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Neutropenia in presence of anti-neutropil antibodies, Fluctuating splenomegaly, Autoimmune thromb... |
OMIM:619220 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Spastic tetraparesis, Tremor, Motor stereotypy, Aggressive behavior |
OMIM:619470 |
Familial Thyroid Dyshormonogenesis |
|
Thyroid defect in oxidation and organification of iodide, Decreased circulating T4 concentration,... |
ORPHA:95716 |
Carney-Stratakis Syndrome |
|
Intestinal obstruction, Paraganglioma, Gastrointestinal stroma tumor |
ORPHA:97286 |
46,Xy Sex Reversal 7 |
|
Sex reversal, Gonadal dysgenesis, male, Hypoplasia of the uterus, Streak ovary, Hypoplasia of the... |
OMIM:233420 |
Classic Mycosis Fungoides |
|
Cutaneous T-cell lymphoma, Hepatomegaly, Splenomegaly, Lymphoma, Abnormal lymphocyte morphology, ... |
ORPHA:2584 |
Granulomatous Slack Skin |
|
Hodgkin lymphoma, Lymphoma, Abnormality of the lymph nodes |
ORPHA:33111 |
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Multinodular goiter |
ORPHA:2091 |
Multiple Endocrine Neoplasia, Type Iib |
|
Medullary thyroid carcinoma, Pheochromocytoma, Elevated calcitonin, Nodular goiter, Ganglioneurom... |
OMIM:162300 |
Pendred Syndrome |
|
Hypothyroidism, Hyperparathyroidism, Goiter, Thyroid carcinoma |
ORPHA:705 |
46,Xy Sex Reversal 11 |
|
Urogenital sinus anomaly, Decreased serum testosterone concentration, Gonadal dysgenesis with fem... |
OMIM:273250 |
Developmental And Epileptic Encephalopathy 97 |
|
Tremor, Stereotypical hand wringing |
OMIM:619561 |
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies |
|
Multinodular goiter |
OMIM:138790 |
Inherited Creutzfeldt-Jakob Disease |
|
Gait ataxia, Progressive cerebellar ataxia, Chorea, Astrocytosis |
ORPHA:282166 |
Xeroderma Pigmentosum Variant |
|
Squamous cell carcinoma, Melanoma, Basal cell carcinoma |
ORPHA:90342 |
Spastic Paraplegia Type 7 |
|
Abnormal mitochondrial morphology, Memory impairment |
ORPHA:99013 |
Tatton-Brown-Rahman Syndrome |
|
Neuroendocrine neoplasm, Cryptorchidism, Thick eyebrow, Myeloid leukemia |
ORPHA:404443 |
Retinoblastoma |
|
Ewing sarcoma, Retinoblastoma, Glioma, Cleft palate, Melanoma, Rhabdomyosarcoma, Lymphoma, Osteos... |
ORPHA:790 |
Rhabdoid Tumor |
|
Neoplasm of the liver, Renal neoplasm, Neoplasm of the central nervous system, Thrombocytopenia, ... |
ORPHA:69077 |
Oligodontia-Colorectal Cancer Syndrome |
|
Adenomatous colonic polyposis, Sparse scalp hair, Fundic gland polyposis, Absent eyebrow, Breast ... |
OMIM:608615 |
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Goiter |
OMIM:600791 |
Baker-Gordon Syndrome |
|
Motor stereotypy, Ataxia, Self-injurious behavior, Hyperkinetic movements, Choreoathetosis, Invol... |
OMIM:618218 |
Immunodeficiency 64 |
|
B-cell lymphoma, Splenomegaly, Cervical lymphadenopathy, Increased proportion autoreactive unresp... |
OMIM:618534 |
Oncogenic Osteomalacia |
|
Giant cell tumor of bone, Neurofibromas, Osteosarcoma, Neoplasm of head and neck, Neoplasm of the... |
ORPHA:352540 |
Immunodeficiency 105 |
|
B-cell lymphoma, Lymphopenia, Hepatosplenomegaly, Absence of lymph node germinal center, T lympho... |
OMIM:619924 |
Ataxia-Telangiectasia |
|
Hodgkin lymphoma, Lymphopenia, Hypoplasia of the thymus, Non-Hodgkin lymphoma, Lymphoma, T lympho... |
OMIM:208900 |
Immunodeficiency, Common Variable, 2 |
|
Neoplasm, Hepatomegaly, Splenomegaly, Follicular hyperplasia, Lymphoma, Lymphadenopathy |
OMIM:240500 |
Fanconi Anemia, Complementation Group A |
|
Neutropenia, Hypergonadotropic hypogonadism, Anemia, Thrombocytopenia, Pancytopenia, Cryptorchidi... |
OMIM:227650 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly |
ORPHA:46532 |
Lymphoproliferative Syndrome 2 |
|
Hodgkin lymphoma, Hepatomegaly, Hemophagocytosis, Splenomegaly, Lymphoproliferative disorder, Hep... |
OMIM:615122 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Motor stereotypy, Self-injurious behavior, Anxiety, Speech apraxia, Aggressive behavior |
OMIM:613670 |
Immunodeficiency 54 |
|
Adrenal insufficiency, Adrenocorticotropic hormone excess, Hepatomegaly, Splenomegaly, Lymphoprol... |
OMIM:609981 |
Neurofibromatosis Type 1 |
|
Neoplasm, Chronic myelogenous leukemia, Precocious puberty, Plexiform neurofibroma, Abnormal hair... |
ORPHA:636 |
Atypical Rett Syndrome |
|
Poor eye contact, Hand apraxia, Pill-rolling tremor, Panic attack, Stereotypical hand wringing, T... |
ORPHA:3095 |
46,Xy Sex Reversal 6 |
|
Chordee, Sex reversal, Hirsutism, Sparse axillary hair, Hypospadias, Clitoral hypertrophy, Dysger... |
OMIM:613762 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Autoimmune h... |
ORPHA:444463 |
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome |
|
Colpocephaly, Enlarged cerebellum |
ORPHA:477993 |
Dyskeratosis Congenita, X-Linked |
|
Alopecia, Pancytopenia, Bone marrow hypocellularity, Carcinoma, Decreased testicular size, Anemia... |
OMIM:305000 |
Polycythemia Vera |
|
Hepatomegaly, Splenomegaly, Myelodysplasia, Portal hypertension, Gastrointestinal hemorrhage, Acu... |
ORPHA:729 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Motor stereotypy, Ataxia |
OMIM:618709 |
Complete Androgen Insensitivity Syndrome |
|
Increased serum testosterone level, Blind vagina, Increased antimullerian hormone level, Sparse a... |
ORPHA:99429 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Recurrent infection of the gastrointestinal tract, Autoimmune thrombocytopenia, Absence of lymph ... |
OMIM:608184 |
Developmental And Epileptic Encephalopathy 58 |
|
Motor stereotypy, Spastic diplegia |
OMIM:617830 |
Microcephaly 29, Primary, Autosomal Recessive |
|
Ataxia, Enlarged cerebellum |
OMIM:620047 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Hepatomegaly, Splenomegaly, Increased proportion autoreactive unresponsive CD21-/low B cells, Lym... |
OMIM:615559 |
Myelocytic Leukemia-Like Syndrome, Familial, Chronic |
|
Chronic myelogenous leukemia |
OMIM:600080 |
Rothmund-Thomson Syndrome Type 1 |
|
Neutropenia, Sparse hair, Aplasia/Hypoplasia of the eyebrow, Anemia, Melanoma, Sparse or absent e... |
ORPHA:221008 |
Liposarcoma |
|
Sarcoma |
ORPHA:69078 |
Mismatch Repair Cancer Syndrome 3 |
|
Neoplasm of the rectum, Lymphoma, Lisch nodules, Colon cancer, T-cell lymphoma, Glioblastoma mult... |
OMIM:619097 |
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract |
|
Stereotypical hand wringing, Spasticity, Irritability |
ORPHA:500545 |
Premature Ovarian Failure 8 |
|
Ovarian neoplasm, Streak ovary, Elevated circulating luteinizing hormone level, Decreased serum e... |
OMIM:615723 |
Alpha-1-Antitrypsin Deficiency |
|
Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Elevated hepatic transaminase, Gastric varix |
OMIM:613490 |
Thymic Neuroendocrine Tumor |
|
Pituitary null cell adenoma, Pituitary adenoma, Increased circulating cortisol level, Neuroendocr... |
ORPHA:97289 |
Leydig Cell Hypoplasia |
|
Decreased serum testosterone concentration, Cryptorchidism, Abnormal external genitalia, Abnormal... |
ORPHA:755 |
Fanconi Anemia, Complementation Group C |
|
Neutropenia, Hypergonadotropic hypogonadism, Anemia, Thrombocytopenia, Pancytopenia, Bone marrow ... |
OMIM:227645 |
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
|
Astrocytosis |
OMIM:611087 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Malabsorption, Xerostomia, Hematochezia, Glossitis, Protein-losing enteropathy, Anemia, Gastroint... |
OMIM:175500 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Decreased activity of mitochondrial complex IV, Increased mitochondrial number |
OMIM:619063 |
Schnitzler Syndrome |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Lymphoma, Anemia, Lymphadenopathy |
ORPHA:37748 |
Epidermodysplasia Verruciformis, X-Linked |
|
Squamous cell carcinoma of the skin, Verrucae |
OMIM:305350 |
Rothmund-Thomson Syndrome Type 2 |
|
High palate, Sparse hair, Cleft palate, Aplasia/Hypoplasia of the eyebrow, Anemia, Melanoma, Spar... |
ORPHA:221016 |
Bloom Syndrome |
|
Recurrent gastroenteritis, Abnormal proportion of CD8-positive T cells, Stomach cancer, Abscess, ... |
ORPHA:125 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
Squamous cell carcinoma of the skin, Verrucae, Lymphopenia, T lymphocytopenia |
OMIM:618309 |
Large Congenital Melanocytic Nevus |
|
Neoplasm, Generalized hirsutism, Cutaneous melanoma, Rhabdomyosarcoma, Sarcoma, Neoplasm of the skin |
ORPHA:626 |
Retinal Dystrophy With Or Without Extraocular Anomalies |
|
Goiter |
OMIM:617175 |
Pelizaeus-Merzbacher Disease |
|
Reduction of oligodendroglia, Ataxia, Choreoathetosis, Cerebellar vermis atrophy |
OMIM:312080 |
Sweet Syndrome |
|
Neoplasm, Neutrophilia, Breast carcinoma, Leukocytosis, Sterile abscess, Inflammation of the larg... |
ORPHA:3243 |
Congenital Factor Xiii Deficiency |
|
Myeloid leukemia, Inflammation of the large intestine |
ORPHA:331 |
Hypothyroidism, Congenital, Nongoitrous, 5 |
|
Hypothyroidism, Congenital hypothyroidism, Ectopic thyroid, Thyroid hypoplasia |
OMIM:225250 |
Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Type II diabetes mellitus, Impaired sensitivity to thyroid hormone, Compensated hypothyroidism, E... |
OMIM:274300 |
Graves Disease, Susceptibility To, 1 |
|
Decreased thyroid-stimulating hormone level, Abnormal abdomen morphology, Graves disease, Increas... |
OMIM:275000 |
Hsd10 Disease |
|
Ataxia, Spastic paraparesis, Abnormal social behavior, Myoclonus, Rigidity, Tremor, Choreoathetosis |
ORPHA:391417 |
Parkinsonism-Dystonia 3, Childhood-Onset |
|
Hypertonia, Ataxia, Action tremor, Anxiety, Parkinsonism, Hyperkinetic movements, Chorea, Tremor,... |
OMIM:619738 |
Shwachman-Diamond Syndrome |
|
Exocrine pancreatic insufficiency, Hepatomegaly, Steatorrhea, Aplastic anemia, Macrocytic anemia,... |
ORPHA:811 |
Developmental And Epileptic Encephalopathy 107 |
|
Motor stereotypy |
OMIM:620033 |
Bone Marrow Failure Syndrome 3 |
|
Sparse hair, Aplasia/Hypoplasia of the eyebrow, Aplastic anemia, Nail dystrophy, Pancytopenia, Bo... |
OMIM:617052 |
Pontocerebellar Hypoplasia, Type 11 |
|
Motor stereotypy, Happy demeanor, Ataxia, Poor eye contact, Limb ataxia, Poor coordination, Spast... |
OMIM:617695 |
Frontal Encephalocele |
|
Hydrocephalus, Spina bifida, Encephalocele |
ORPHA:1931 |
Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome |
|
Squamous cell carcinoma of the skin, Sex reversal |
ORPHA:85112 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Poikilocytosis, Hypog... |
OMIM:615234 |
Hemoglobin H Disease |
|
Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin |
OMIM:613978 |
Nephroblastoma |
|
Neoplasm, Neoplasm of the liver, Nephroblastoma, Neoplasm of the lung, Lymphadenopathy |
ORPHA:654 |
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome |
|
Enlarged cerebellum |
ORPHA:85165 |
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome |
|
Lymphangioma, Ovarian neoplasm, Neoplasm of the breast, Hamartoma, Neoplasm of the thyroid gland,... |
ORPHA:137608 |
Foxg1 Syndrome |
|
Motor stereotypy, Poor eye contact, Myoclonus, Hyperkinetic movements, Stereotypical hand wringin... |
ORPHA:561854 |
Neonatal Severe Primary Hyperparathyroidism |
|
Abnormal calcium-phosphate regulating hormone level, Abnormality of the thyroid gland, Hepatomega... |
ORPHA:417 |
Congenital Hypothyroidism |
|
Abnormality of the thyroid gland, Prolonged neonatal jaundice, Macroglossia, Thyroid dysgenesis, ... |
ORPHA:442 |
Thyroid Dyshormonogenesis 1 |
|
Hypothyroidism, Goiter |
OMIM:274400 |
Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Motor stereotypy, Babinski sign, Spastic dysarthria, Progressive spastic paraplegia, Shyness, Spa... |
ORPHA:280763 |
Classic Hodgkin Lymphoma |
|
Neoplasm, Hepatomegaly, Splenomegaly, Lymphoma, Bone marrow hypocellularity, Lymphadenopathy |
ORPHA:391 |
Igg4-Related Thyroid Disease |
|
Abnormality of the pituitary gland, Graves disease, Sialadenitis, Euthyroid goiter, Pancreatic fi... |
ORPHA:64744 |
Nijmegen Breakage Syndrome |
|
Anal atresia, B-cell lymphoma, Neoplasm, Glioma, Abnormal hair morphology, Abnormal hair quantity... |
ORPHA:647 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly |
OMIM:206400 |
Bloom Syndrome |
|
Hypertrichosis, Elevated hemoglobin A1c, Lymphoma, Squamous cell carcinoma, Azoospermia, Cryptorc... |
OMIM:210900 |
Pediatric-Onset Graves Disease |
|
Graves disease, Hepatomegaly, Neutropenia in presence of anti-neutropil antibodies, Splenomegaly,... |
ORPHA:525731 |
Ataxia-Telangiectasia With Generalized Skin Pigmentation And Early Death |
|
Leukemia, Abnormality of the thymus |
OMIM:208910 |
Chromosome 3Q29 Deletion Syndrome |
|
Motor stereotypy, Anxiety, Aggressive behavior, Gait ataxia |
OMIM:609425 |
Down Syndrome |
|
Anal atresia, Type II diabetes mellitus, Narrow palate, Macroglossia, Abnormality of the lymphati... |
ORPHA:870 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Cleft palate, Bifid scrotum, Micropenis, Hypospadias, Nephroblastoma, Rhabdomyosarcoma, Ambiguous... |
OMIM:257300 |
Nevus Comedonicus Syndrome |
|
Hamartoma, Spina bifida, Spina bifida occulta |
ORPHA:64754 |
Myxedema |
|
Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration, Goiter |
OMIM:255900 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Lymphopenia, Splenomegaly, Aplasia of the thymus, Abnormally low T cell receptor ex... |
OMIM:602450 |
Bangstad Syndrome |
|
Pancytopenia, Goiter, Insulin-resistant diabetes mellitus, Primary gonadal insufficiency |
OMIM:210740 |
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Motor stereotypy, Self-injurious behavior, Stereotypical hand wringing, Chorea, Gait ataxia, Spas... |
OMIM:618917 |
Hypothyroidism, Congenital, Nongoitrous, 1 |
|
Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypoth... |
OMIM:275200 |
Intellectual Developmental Disorder With Autism And Macrocephaly |
|
Reduced use of typical gestures, Clumsiness, Recurrent hand flapping, Pronoun reversal, Anxiety |
OMIM:615032 |
Fanconi Anemia, Complementation Group D2 |
|
Annular pancreas, Neutropenia, Micropenis, Hypergonadotropic hypogonadism, Anemia, Tracheoesophag... |
OMIM:227646 |
Necrobiosis Lipoidica |
|
Squamous cell carcinoma, Granuloma, Abnormality of neutrophil physiology |
ORPHA:542592 |
Ophthalmoplegia, External, And Myopia |
|
Spina bifida |
OMIM:311000 |
Thyrocerebroretinal Syndrome |
|
Goiter, Thrombocytopenia |
OMIM:274240 |
Ichthyosis, Hystrix-Like, With Deafness |
|
Sparse scalp hair, Sparse eyebrow, Sparse eyelashes, Squamous cell carcinoma, Absent eyelashes, S... |
OMIM:602540 |
Mycosis Fungoides |
|
Lymphadenopathy, Lymphoma, Neoplasm of the skin |
OMIM:254400 |
Ring Chromosome Y Syndrome |
|
Urogenital sinus anomaly, Ambiguous genitalia, female, Ambiguous genitalia, male, Streak ovary, B... |
ORPHA:261529 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Leukocytosis, Hypothyroidism, Hashimoto thyroiditis, Goiter, Thrombocytopenia |
ORPHA:83601 |
Leber Congenital Amaurosis 10 |
|
Hyposmia |
OMIM:611755 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Malabsorption, Hepatomegaly, Splenomegaly, Cirrhosis, Biliary tract abnormality, Elevated hepatic... |
ORPHA:79301 |
Hemoglobin D Disease |
|
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... |
ORPHA:90039 |
Tropical Calcific Pancreatitis |
|
Neoplasm of the pancreas, Pancreatic calcification, Insulin-dependent but ketosis-resistant diabetes |
OMIM:608189 |
17Q11 Microdeletion Syndrome |
|
Optic nerve glioma, Gastrointestinal stroma tumor, Elevated circulating parathyroid hormone level... |
ORPHA:97685 |
Werner Syndrome |
|
Ovarian neoplasm, Neoplasm of the small intestine, Neoplasm of the oral cavity, Hypogonadism, Whi... |
ORPHA:902 |
Androgen Insensitivity Syndrome |
|
Ambiguous genitalia, male, Sparse axillary hair, Male pseudohermaphroditism, Absent pubic hair, S... |
|