Myofibromatosis, Infantile, 1 |
|
Fibroma, Myofibromatosis |
OMIM:228550 |
Li-Fraumeni Syndrome |
|
Neoplasm of the pancreas, Lung adenocarcinoma, Choriocarcinoma, Breast carcinoma, Prostate cancer... |
OMIM:151623 |
Tumor Predisposition Syndrome 1 |
|
Lung adenocarcinoma, Cutaneous melanoma, Malignant mesothelioma, Renal cell carcinoma, Uveal mela... |
OMIM:614327 |
Li-Fraumeni Syndrome 2 |
|
Glioma, Breast carcinoma, Stomach cancer, Meningioma, Sarcoma |
OMIM:609265 |
Reticulum Cell Sarcoma |
|
Neoplasm, Sarcoma |
OMIM:267730 |
Serrated Polyposis Syndrome |
|
Adenomatous colonic polyposis, Hodgkin lymphoma, Ovarian neoplasm, Breast carcinoma, Prostate can... |
ORPHA:157798 |
Hereditary Breast And Ovarian Cancer Syndrome |
|
Neoplasm of the pancreas, Ovarian neoplasm, Breast carcinoma, Prostate cancer, Melanoma, Abnormal... |
ORPHA:145 |
Cerebral Sarcoma |
|
Neoplasm, Fibrosarcoma |
OMIM:117600 |
Li-Fraumeni Syndrome |
|
Neoplasm of the rectum, Ovarian neoplasm, Stomach cancer, Non-Hodgkin lymphoma, Choroid plexus ca... |
ORPHA:524 |
Rhabdoid Tumor Predisposition Syndrome 2 |
|
Neoplasm of the central nervous system, Carcinoma |
OMIM:613325 |
Melanoma-Pancreatic Cancer Syndrome |
|
Oropharyngeal squamous cell carcinoma, Melanoma, Pancreatic squamous cell carcinoma, Squamous cel... |
OMIM:606719 |
Lung Cancer |
|
Lung adenocarcinoma, Non-small cell lung carcinoma, Alveolar cell carcinoma |
OMIM:211980 |
Ewing Sarcoma |
|
Ewing sarcoma |
OMIM:612219 |
Undifferentiated Pleomorphic Sarcoma |
|
Soft tissue sarcoma |
ORPHA:2023 |
Multiple Fibroadenomas Of The Breast |
|
Fibroadenoma of the breast |
OMIM:615554 |
Maffucci Syndrome |
|
Chondrosarcoma, Pituitary adenoma, Ovarian neoplasm, Parathyroid adenoma, Breast carcinoma, Exost... |
ORPHA:163634 |
Sarcoma, Synovial |
|
Synovial sarcoma |
OMIM:300813 |
Alveolar Soft Part Sarcoma |
|
Alveolar soft part sarcoma |
OMIM:606243 |
Colorectal Cancer, Susceptibility To, 12 |
|
Colorectal polyposis, Carcinoma |
OMIM:615083 |
Fanconi Anemia, Complementation Group G |
|
Thrombocytopenia, Myelodysplasia, Neutropenia, Anemia, Leukemia, Abnormality of chromosome stability |
OMIM:614082 |
Ovarian Cancer |
|
Dysgerminoma, Breast carcinoma, Ovarian papillary adenocarcinoma |
OMIM:167000 |
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 |
Breast-Ovarian Cancer, Familial, Susceptibility To, 3 |
|
Ovarian carcinoma, Breast carcinoma |
OMIM:613399 |
Schöpf-Schulz-Passarge Syndrome |
|
Squamous cell carcinoma, Basal cell carcinoma, Ovarian neoplasm |
ORPHA:50944 |
N Syndrome |
|
Neoplasm, Hypospadias, Cryptorchidism, Leukemia, Abnormality of chromosome stability |
OMIM:310465 |
Enchondromatosis, Multiple, Ollier Type |
|
Hemangioma, Multiple enchondromatosis, Chondrosarcoma |
OMIM:166000 |
Desmoplastic Small Round Cell Tumor |
|
Neoplasm of the pancreas, Ovarian neoplasm, Hepatomegaly, Neoplasm of the central nervous system,... |
ORPHA:83469 |
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 |
Desmoid Disease, Hereditary |
|
Desmoid tumors, Colon cancer, Colorectal polyposis, Breast carcinoma |
OMIM:135290 |
Dermatofibrosarcoma Protuberans |
|
Fibrosarcoma, Neoplasm of the skin |
ORPHA:31112 |
Rhabdomyosarcoma, Embryonal, 2 |
|
Pleuropulmonary blastoma, Nephroblastoma, Embryonal rhabdomyosarcoma, Ovarian thecoma, Multinodul... |
OMIM:180295 |
Ollier Disease |
|
Chondrosarcoma, Neoplasm, Lymphangioma, Precocious puberty, Anemia, Hemangioma, Multiple enchondr... |
ORPHA:296 |
Muir-Torre Syndrome |
|
Malignant genitourinary tract tumor, Ovarian neoplasm, Benign gastrointestinal tract tumors, Brea... |
OMIM:158320 |
Bazex Syndrome |
|
Anemia, Lung adenocarcinoma, Neoplasm, Liposarcoma |
ORPHA:166113 |
Familial Multinodular Goiter |
|
Sertoli cell neoplasm, Thyroid carcinoma, Ovarian neoplasm, Pleuropulmonary blastoma, Medulloepit... |
ORPHA:276399 |
Nut Midline Carcinoma |
|
Ewing sarcoma, Neoplasm, Neuroblastoma, Oropharyngeal squamous cell carcinoma, Pancreatic squamou... |
ORPHA:443167 |
Acquired Ichthyosis |
|
Neoplasm, Multiple myeloma, Sarcoma, Lymphoma |
ORPHA:454 |
Chromosomal Instability With Tissue-Specific Radiosensitivity |
|
Neoplasm, Abnormality of chromosome stability |
OMIM:215510 |
Ovarian Fibromata |
|
Ovarian fibroma |
OMIM:166970 |
Milroy Disease |
|
Hydrocele testis, Angiosarcoma, Neoplasm of the skin |
ORPHA:79452 |
Chondrosarcoma, Extraskeletal Myxoid |
|
Chondrosarcoma |
OMIM:612237 |
Chondrosarcoma |
|
Chondrosarcoma |
OMIM:215300 |
Xeroderma Pigmentosum, Autosomal Dominant, Mild |
|
Defective DNA repair after ultraviolet radiation damage, Neoplasm of the skin |
OMIM:194400 |
Multiple Enchondromatosis, Maffucci Type |
|
Hemangioma, Multiple enchondromatosis, Chondrosarcoma |
OMIM:614569 |
Progressive Osseous Heteroplasia |
|
Abnormality of the parathyroid gland, Sarcoma |
ORPHA:2762 |
Lichen Sclerosus Et Atrophicus |
|
Squamous cell carcinoma, Carcinoma |
OMIM:151590 |
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia |
|
Unilateral vestibular schwannoma, Carcinoma |
OMIM:603641 |
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome |
|
Lymphangioma, Ovarian neoplasm, Neoplasm of the breast, Hamartoma, Neoplasm of the thyroid gland,... |
ORPHA:137608 |
Mast Cell Sarcoma |
|
Mastocytosis, Sarcoma, Hepatomegaly, Splenomegaly |
ORPHA:66661 |
Gonadoblastoma |
|
Ovarian gonadoblastoma, Gonadal dysgenesis with female appearance, male, Female external genitali... |
ORPHA:206484 |
Fanconi Anemia, Complementation Group S |
|
Anemia, Ovarian neoplasm, Chromosome breakage, Breast carcinoma |
OMIM:617883 |
Acquired Hypertrichosis Lanuginosa |
|
Neoplasm, Ovarian neoplasm, Neoplasm of the respiratory system, Neoplasm of the breast |
ORPHA:2221 |
Fanconi Renotubular Syndrome 5 |
|
Lung adenocarcinoma, Pulmonary fibrosis, Emphysema |
OMIM:618913 |
Colorectal Cancer, Hereditary Nonpolyposis, Type 4 |
|
Hereditary nonpolyposis colorectal carcinoma, Ovarian neoplasm, Endometrial carcinoma |
OMIM:614337 |
46,Xy Sex Reversal 10 |
|
Sex reversal, Micropenis, Ambiguous genitalia, Dysgerminoma, Decreased testicular size, Gonadobla... |
OMIM:616425 |
Xeroderma Pigmentosum, Complementation Group F |
|
Keratoacanthoma, Squamous cell carcinoma, Basal cell carcinoma, Deficient excision of UV-induced ... |
OMIM:278760 |
Rhabdoid Tumor |
|
Neoplasm of the liver, Renal neoplasm, Neoplasm of the central nervous system, Anemia, Thrombocyt... |
ORPHA:69077 |
Infantile Myofibromatosis |
|
Neoplasm of the pancreas, Neoplasm of the lung, Gingival fibromatosis, Fibroma, Benign neoplasm o... |
ORPHA:2591 |
Paraneoplastic Pemphigus |
|
Thymoma, B-cell lymphoma, Sarcoma |
ORPHA:63455 |
Tumor Predisposition Syndrome 2 |
|
Adenomatous colonic polyposis, Juvenile type ovarian granulosa cell tumor, Colon cancer, Uveal me... |
OMIM:619975 |
Premature Ovarian Failure 8 |
|
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... |
OMIM:615723 |
Werner Syndrome |
|
Neoplasm, Acral lentiginous melanoma, Ovarian neoplasm, Thyroid carcinoma, Renal neoplasm, Cutane... |
ORPHA:902 |
Liposarcoma |
|
Sarcoma |
ORPHA:69078 |
Meige Disease |
|
Angiosarcoma, Pleural effusion |
ORPHA:90186 |
Asbestos Intoxication |
|
Interlobular septal thickening, Lung adenocarcinoma, Pleural thickening, Subpleural honeycombing,... |
ORPHA:2302 |
Ovarian Fibrothecoma |
|
Diffuse leiomyomatosis, Fibrosarcoma, Abnormal endometrium morphology, Gonadal calcification, Ple... |
ORPHA:314478 |
Cowden Syndrome 1 |
|
Hydrocele testis, Lymphopenia, Breast carcinoma, Fibroadenoma of the breast, Ovarian cyst, Hamart... |
OMIM:158350 |
Apc-Related Attenuated Familial Adenomatous Polyposis |
|
Adrenocortical adenoma, Odontoma, Adrenocortical carcinoma, Lipoma, Multiple gastric polyps, Duod... |
ORPHA:247806 |
Fanconi Anemia, Complementation Group D1 |
|
Chromosomal breakage induced by crosslinking agents, T-cell acute lymphoblastic leukemias, Acute ... |
OMIM:605724 |
Lynch Syndrome |
|
Neoplasm of the rectum, Neoplasm of the pancreas, Pituitary adenoma, Ovarian neoplasm, Neuroblast... |
ORPHA:144 |
Lhermitte-Duclos Disease |
|
Neoplasm of the thyroid gland, Trichilemmoma, Ovarian neoplasm, Fibroadenoma of the breast |
ORPHA:65285 |
Peripheral Primitive Neuroectodermal Tumor |
|
Neoplasm of the pancreas, Precocious puberty, Ovarian neoplasm, Peripheral primitive neuroectoder... |
ORPHA:370348 |
Large Congenital Melanocytic Nevus |
|
Neoplasm, Cutaneous melanoma, Rhabdomyosarcoma, Sarcoma, Neoplasm of the skin |
ORPHA:626 |
Gardner Syndrome |
|
Hepatoblastoma, Adrenocortical adenoma, Odontoma, Small intestine carcinoid, Adrenocortical carci... |
ORPHA:79665 |
Pancreatic Cancer, Susceptibility To, 5 |
|
Melanoma, Pancreatic adenocarcinoma |
OMIM:618680 |
Legius Syndrome |
|
Ovarian neoplasm, Male urethral meatus stenosis, Acute monocytic leukemia, Desmoid tumors, Nephro... |
ORPHA:137605 |
Ovarian Fibroma |
|
Odontogenic keratocysts of the jaw, Gonadal calcification, Basal cell carcinoma, Pleural effusion... |
ORPHA:314473 |
Colorectal Cancer, Susceptibility To, 10 |
|
Endometrial carcinoma, Colorectal polyposis, Carcinoma |
OMIM:612591 |
Ataxia-Telangiectasia |
|
Neoplasm, Lymphopenia, Abnormal testis morphology, Elevated hepatic transaminase, Polycystic ovar... |
ORPHA:100 |
Immunodeficiency 54 |
|
Adrenocorticotropic hormone excess, Hepatomegaly, Chromosome breakage, Splenomegaly, Lymphoprolif... |
OMIM:609981 |
Familial Pancreatic Carcinoma |
|
Neoplasm of the liver, Extrahepatic cholestasis, Breast carcinoma, Melanoma, Hepatosplenomegaly, ... |
ORPHA:1333 |
Yellow Nail Syndrome |
|
Neoplasm, Renal neoplasm, Neoplasm of the lung, Pleuritis, Biliary tract neoplasm, Bronchiectasis... |
ORPHA:662 |
Frasier Syndrome |
|
Ovarian gonadoblastoma, Male pseudohermaphroditism, Gonadal dysgenesis |
OMIM:136680 |
Epidermodysplasia Verruciformis, Susceptibility To, 3 |
|
Squamous cell carcinoma, Basal cell carcinoma |
OMIM:618267 |
46,Xy Sex Reversal 6 |
|
Chordee, Sex reversal, Hypospadias, Clitoral hypertrophy, Dysgerminoma, Gonadoblastoma |
OMIM:613762 |
Attenuated Familial Adenomatous Polyposis |
|
Adenomatous colonic polyposis, Papilloma, Large intestinal polyposis, Duodenal polyposis, Adenoca... |
ORPHA:220460 |
Xeroderma Pigmentosum, Complementation Group E |
|
Defective DNA repair after ultraviolet radiation damage, Squamous cell carcinoma of the skin, Mel... |
OMIM:278740 |
Familial Adenomatous Polyposis 1 |
|
Adenomatous colonic polyposis, Medulloblastoma, Hepatoblastoma, Multiple gastric polyps, Fibroade... |
OMIM:175100 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Multiple myeloma, Hemophagocytosis, Hepatic failure, T-cell lymphoma, Pancytopenia, Burkitt lymph... |
ORPHA:158057 |
Desmoid Tumor |
|
Desmoid tumors, Intestinal polyposis, Neoplasm of the skin, Fibroma |
ORPHA:873 |
Exostoses, Multiple, Type Ii |
|
Chondrosarcoma, Scapular exostoses, Multiple exostoses, Rib exostoses, Pelvic bone exostoses |
OMIM:133701 |
Exostoses, Multiple, Type I |
|
Chondrosarcoma, Scapular exostoses, Multiple exostoses, Rib exostoses, Pelvic bone exostoses |
OMIM:133700 |
Hyperbilirubinemia, Shunt, Primary |
|
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Reticulocytosis, Jaundice, Erythroid... |
OMIM:237800 |
Disseminated Superficial Actinic Porokeratosis |
|
Squamous cell carcinoma |
ORPHA:79152 |
Fanconi Anemia, Complementation Group E |
|
Neutropenia, Anemia, Hypergonadotropic hypogonadism, Thrombocytopenia, Deficient excision of UV-i... |
OMIM:600901 |
Gastrointestinal Stromal Tumor |
|
Neoplasm of the colon, Neoplasm of the rectum, Esophageal neoplasm, Gastrointestinal stroma tumor... |
ORPHA:44890 |
Cyanosis, Transient Neonatal |
|
Methemoglobinemia, Hepatomegaly, Anemia, Reticulocytosis, Jaundice |
OMIM:613977 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Splenomegaly, Anemia, Anisocytosis, Poikilocytosis, Congenital hemolytic anemia, Chronic hemolyti... |
ORPHA:766 |
Fanconi Anemia, Complementation Group N |
|
Medulloblastoma, Neuroblastoma, Nephroblastoma, Aplastic anemia, Chromosomal breakage induced by ... |
OMIM:610832 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis... |
OMIM:615631 |
Sickle Cell Anemia |
|
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... |
ORPHA:232 |
Nthl1-Related Attenuated Familial Adenomatous Polyposis |
|
Adenomatous colonic polyposis, Neoplasm of the rectum, Breast carcinoma, Duodenal adenocarcinoma,... |
ORPHA:454840 |
Fanconi Anemia, Complementation Group A |
|
Neutropenia, Anemia, Hypergonadotropic hypogonadism, Thrombocytopenia, Deficient excision of UV-i... |
OMIM:227650 |
Carney Complex |
|
Neoplasm of the rectum, Pituitary growth hormone cell adenoma, Enchondroma, Ovarian cyst, Increas... |
ORPHA:1359 |
Xeroderma Pigmentosum, Complementation Group C |
|
Defective DNA repair after ultraviolet radiation damage, Squamous cell carcinoma of the skin, Bas... |
OMIM:278720 |
Opsoclonus-Myoclonus Syndrome |
|
Neoplasm, Neuroblastoma, Breast carcinoma, Ovarian teratoma, Melanoma, Small cell lung carcinoma,... |
ORPHA:1183 |
Aicardi Syndrome |
|
Lipoma, Precocious puberty, Hepatoblastoma, Teratoma, Hemangioma, Metastatic angiosarcoma, Recurr... |
OMIM:304050 |
Adrenocortical Carcinoma |
|
Lung adenocarcinoma, Adrenocortical carcinoma, Adrenocorticotropic hormone deficiency |
ORPHA:1501 |
Lig4 Syndrome |
|
Hepatomegaly, Hypoplasia of penis, Leukocytosis, Lymphoma, Pancytopenia, Cryptorchidism, Acute le... |
ORPHA:99812 |
Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Adenomatous colonic polyposis, Papilloma, Neoplasm of the rectum, Multiple gastric polyps, Stomac... |
ORPHA:480536 |
Cheilitis Glandularis |
|
Squamous cell carcinoma, Neoplasm, Abnormal salivary gland morphology |
ORPHA:1221 |
Hereditary Leiomyomatosis And Renal Cell Cancer |
|
Esophageal neoplasm, Uterine leiomyoma, Barrett esophagus, Multiple cutaneous leiomyomas, Uterine... |
ORPHA:523 |
Terminal Osseous Dysplasia |
|
Fibroma |
OMIM:300244 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Cholelithiasis, Anemia of inadequate production, Splenomegaly, Reticulocytosis, Jaundice |
OMIM:224100 |
Familial Melanoma |
|
Neoplasm of the pancreas, Melanoma, Neoplasm of the stomach, Neoplasm of the breast |
ORPHA:618 |
Acromesomelic Dysplasia, Grebe Type |
|
Sarcoma |
ORPHA:2098 |
Familial Adenomatous Polyposis |
|
Cholangiocarcinoma, Hepatoblastoma, Stomach cancer, Soft tissue neoplasm, Odontoma, Lipoma, Multi... |
ORPHA:733 |
Multiple Endocrine Neoplasia, Type Iv |
|
Pituitary adenoma, Elevated circulating growth hormone concentration, Parathyroid adenoma, Carcin... |
OMIM:610755 |
Ectopic Aldosterone-Producing Tumor |
|
Ovarian neoplasm, Renal cortical adenoma |
ORPHA:231632 |
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy |
|
Precocious puberty, Abnormal penis morphology, Testicular neoplasm, Neoplasm of the breast, Polyc... |
ORPHA:457059 |
Pancreatic Cancer |
|
Neoplasm of the pancreas |
OMIM:260350 |
Cancer-Associated Retinopathy |
|
Neoplasm of the pancreas, Thymoma, Malignant genitourinary tract tumor, Hodgkin lymphoma, Uterine... |
ORPHA:71505 |
Fanconi Anemia, Complementation Group C |
|
Neutropenia, Anemia, Hypergonadotropic hypogonadism, Thrombocytopenia, Deficient excision of UV-i... |
OMIM:227645 |
Autoimmune Lymphoproliferative Syndrome |
|
Abnormal proportion of CD8-positive T cells, Hepatomegaly, Non-Hodgkin lymphoma, Basal cell carci... |
ORPHA:3261 |
Glutamate-Cysteine Ligase Deficiency |
|
Hemolytic anemia, Hepatosplenomegaly, Reticulocytosis, Jaundice |
ORPHA:33574 |
Schopf-Schulz-Passarge Syndrome |
|
Squamous cell carcinoma, Basal cell carcinoma, Poroma, Apocrine hidrocystoma |
OMIM:224750 |
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Fibroma, Hepatosplenomegaly, Microcytic anemia, Recurrent pneumonia |
OMIM:619750 |
46,Xy Sex Reversal 7 |
|
Sex reversal, Gonadal dysgenesis, male, Hypoplasia of the uterus, Streak ovary, Hypoplasia of the... |
OMIM:233420 |
Palmoplantar Carcinoma, Multiple Self-Healing |
|
Squamous cell carcinoma, Carcinoma |
OMIM:615225 |
Red Cell Phospholipid Defect With Hemolysis |
|
Reticulocytosis, Intermittent jaundice, Splenomegaly |
OMIM:179700 |
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease |
|
Squamous cell carcinoma |
OMIM:613736 |
Dehydrated Hereditary Stomatocytosis |
|
Cholelithiasis, Anemia of inadequate production, Increased mean corpuscular volume, Nonspherocyti... |
ORPHA:3202 |
46,Xy Partial Gonadal Dysgenesis |
|
Streak ovary, Hypergonadotropic hypogonadism, Ambiguous genitalia, Clitoral hypertrophy, Abnormal... |
ORPHA:251510 |
Neuroendocrine Neoplasm Of Appendix |
|
Adrenocorticotropic hormone excess, Ovarian neoplasm, Hepatomegaly, Intestinal carcinoid, Adenoca... |
ORPHA:100079 |
Hyperkeratosis Lenticularis Perstans |
|
Squamous cell carcinoma, Basal cell carcinoma |
ORPHA:409 |
Squamous Cell Carcinoma, Head And Neck |
|
Squamous cell carcinoma |
OMIM:275355 |
Bloom Syndrome |
|
Chromosome breakage, Elevated hemoglobin A1c, Recurrent upper respiratory tract infections, Lymph... |
OMIM:210900 |
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Squamous cell carcinoma, Multinodular goiter |
OMIM:618373 |
Hereditary Leiomyomatosis And Renal Cell Cancer |
|
Multiple cutaneous leiomyomas, Uterine leiomyosarcoma, Renal cell carcinoma, Cutaneous leiomyoma,... |
OMIM:150800 |
Ataxia-Telangiectasia With Generalized Skin Pigmentation And Early Death |
|
Leukemia, Chromosome breakage, Abnormality of chromosome stability |
OMIM:208910 |
Gcgr-Related Hyperglucagonemia |
|
Neoplasm of the pancreas, Cholelithiasis, Abnormal biliary tract morphology, Glucagonoma |
ORPHA:438274 |
Denys-Drash Syndrome |
|
Ovarian gonadoblastoma, Ambiguous genitalia, female, Ambiguous genitalia, male, Male pseudohermap... |
OMIM:194080 |
Basal Cell Nevus Syndrome |
|
Medulloblastoma, Odontogenic keratocysts of the jaw, Rhabdomyoma, Basal cell carcinoma, Ovarian f... |
OMIM:109400 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Circulating nucleated red blood cells, Anemia of inadequate production, Hepatomegaly, Splenomegal... |
OMIM:613673 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Anal canal squamous carcinoma, B lymphocytopenia, T lymphocytopenia, Squamous cell carcinoma, Rec... |
ORPHA:217390 |
Mastocytosis |
|
Hepatomegaly, Splenomegaly, Mastocytosis, Sarcoma, Chronic leukemia, Acute leukemia |
ORPHA:98292 |
Glycogen Storage Disease Vii |
|
Cholelithiasis, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Hemolytic anemia, Retic... |
OMIM:232800 |
Muir-Torre Syndrome |
|
Malignant genitourinary tract tumor, Neoplasm of the liver, Salivary gland neoplasm, Renal neopla... |
ORPHA:587 |
Dermatomyositis |
|
Lung adenocarcinoma, Neoplasm, Abnormal eosinophil morphology, Breast carcinoma, Gastrointestinal... |
ORPHA:221 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Cholelithiasis, Hepatomegaly, Splenomegaly, Decreased hemoglobin concentration, Cholecystitis, Ch... |
OMIM:266200 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular volume, Hepatomegaly, Splenomegaly, Anisopoikilocytosis, Acanthocytosi... |
OMIM:616689 |
Tuberous Sclerosis 2 |
|
Optic nerve glioma, Subependymal nodules, Precocious puberty, Subungual fibromas, Cortical tubers... |
OMIM:613254 |
Glut1 Deficiency Syndrome 2 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly |
OMIM:612126 |
Cowden-Like syndrome |
|
Papillary thyroid carcinoma, Uterine leiomyoma, Endometrial carcinoma, Breast carcinoma |
OMIM:612359 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Cholelithiasis, Nonspherocytic hemolytic anemia, Splenomegaly, Normocytic anemia, Cholecystitis, ... |
OMIM:235700 |
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 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Hurthle cell thyroid adenoma, Parathyroid adenoma, Parathyroid carcinoma, Nephroblastoma, Renal c... |
OMIM:145001 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Histiocytoma, Osteosarcoma, Fibrosarcoma |
OMIM:112250 |
Pancreatic Cancer, Susceptibility To, 1 |
|
Pancreatic adenocarcinoma |
OMIM:606856 |
Thrombotic Thrombocytopenic Purpura |
|
Microangiopathic hemolytic anemia, Reticulocytosis, Thrombocytopenia |
ORPHA:54057 |
Pancreatic Cancer, Susceptibility To, 2 |
|
Neoplasm of the pancreas |
OMIM:613347 |
Transcobalamin Deficiency |
|
Neutropenia, Lymphopenia, Pancytopenia, Thrombocytopenia, Abnormality of chromosome stability |
ORPHA:859 |
Nijmegen Breakage Syndrome |
|
B-cell lymphoma, Neoplasm, Glioma, Rhabdomyosarcoma, Lymphoma, Thrombocytopenia, Hemolytic anemia... |
ORPHA:647 |
Oncogenic Osteomalacia |
|
Giant cell tumor of bone, Neurofibromas, Osteosarcoma, Neoplasm of head and neck, Neoplasm of the... |
ORPHA:352540 |
Punctate Palmoplantar Keratoderma Type 1 |
|
Esophageal neoplasm, Hodgkin lymphoma, Breast carcinoma, Stomach cancer, Prostate cancer, Melanom... |
ORPHA:79501 |
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity |
|
Abnormality of chromosome stability, Pancytopenia |
OMIM:600546 |
Fanconi Anemia, Complementation Group D2 |
|
Annular pancreas, Neutropenia, Micropenis, Anemia, Hypergonadotropic hypogonadism, Thrombocytopen... |
OMIM:227646 |
Xeroderma Pigmentosum, Complementation Group G |
|
Defective DNA repair after ultraviolet radiation damage |
OMIM:278780 |
Xeroderma Pigmentosum Variant |
|
Squamous cell carcinoma, Melanoma, Basal cell carcinoma |
ORPHA:90342 |
Kasabach-Merritt Syndrome |
|
Tufted angioma, Anemia, Hemangioma, Leukopenia, Reticulocytosis, Hepatic hemangioma, Neutropenia,... |
ORPHA:2330 |
Retinoblastoma |
|
Ewing sarcoma, Retinoblastoma, Lymphoma, Osteosarcoma, Leukemia, Pinealoma |
OMIM:180200 |
Peutz-Jeghers Syndrome |
|
Neoplasm of the rectum, Esophageal neoplasm, Neoplasm of the colon, Gastrointestinal carcinoma, N... |
ORPHA:2869 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Anemia of inadequate production, Hepatomegaly, Prolonged neonatal jaundice, Splenomegaly, Anisocy... |
OMIM:224120 |
Hereditary Elliptocytosis |
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Cholelithiasis, Prolonged neonatal jaundice, Splenomegaly, Hemolytic anemia, Poikilocytosis, Cong... |
ORPHA:288 |
Xeroderma Pigmentosum, Complementation Group A |
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Defective DNA repair after ultraviolet radiation damage, Melanoma |
OMIM:278700 |
Crouzon Syndrome |
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Dysgerminoma |
OMIM:123500 |
Spherocytosis, Type 1 |
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Cholelithiasis, Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis, Jaundice |
OMIM:182900 |
Harderoporphyria |
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Hepatomegaly, Splenomegaly, Hemolytic anemia, Prolonged neonatal jaundice, Reticulocytosis |
OMIM:618892 |
Osteopetrosis, Autosomal Recessive 4 |
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Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Anemia, Thrombocytopenia |
OMIM:611490 |
Cowden Syndrome |
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Enlarged polycystic ovaries, Meningioma, Neoplasm of the thyroid gland, Papilloma, Lipoma, Neopla... |
ORPHA:201 |
Spherocytosis, Type 5 |
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Spherocytosis, Abnormal leukocyte count, Splenomegaly, Hemolytic anemia, Abnormal platelet count,... |
OMIM:612690 |
Monosomy 22 |
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Aplasia of the thymus, Micropenis, Hepatosplenomegaly, Meningioma, Hypochromic microcytic anemia,... |
ORPHA:96123 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
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Cholelithiasis, Hepatomegaly, Splenomegaly, Increased red cell hemolysis by shear stress, Increas... |
OMIM:194380 |
Apert Syndrome |
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Ovarian neoplasm |
ORPHA:87 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
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Diffuse leiomyomatosis, Esophageal neoplasm, Uterine neoplasm, Aspiration pneumonia, Abnormality ... |
ORPHA:1018 |
Hereditary Spherocytosis |
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Cholelithiasis, Hepatomegaly, Spherocytosis, Splenomegaly, Extramedullary hematopoiesis, Anemia, ... |
ORPHA:822 |
Overhydrated Hereditary Stomatocytosis |
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Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co... |
ORPHA:3203 |
Hereditary Mixed Polyposis Syndrome |
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Adenomatous colonic polyposis, Neoplasm of the rectum, Thyroid carcinoma, Prostate cancer, Hyperp... |
ORPHA:157794 |
Multiple Endocrine Neoplasia Type 4 |
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Pituitary growth hormone cell adenoma, Thymoma, Adrenocortical adenoma, Neuroendocrine neoplasm, ... |
ORPHA:276152 |
Mismatch Repair Cancer Syndrome 1 |
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Adenomatous colonic polyposis, Plexiform neurofibroma, Medulloblastoma, Neuroblastoma, Pleomorphi... |
OMIM:276300 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
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Hemolytic anemia, Reticulocytosis, Thrombocytopenia, Splenomegaly |
OMIM:314050 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
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Hemolytic anemia, Decreased mean corpuscular volume, Hepatosplenomegaly, Reticulocytosis |
OMIM:611590 |
Neurofibromatosis-Pheochromocytoma-Duodenal Carcinoid Syndrome |
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Carcinoid tumor, Neurofibromas, Pheochromocytoma, Jaundice |
OMIM:162240 |
Retinoblastoma |
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Ewing sarcoma, Retinoblastoma, Glioma, Melanoma, Rhabdomyosarcoma, Lymphoma, Osteosarcoma, Leiomy... |
ORPHA:790 |
Congenital Erythropoietic Porphyria |
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Splenomegaly, Anisocytosis, Leukopenia, Neoplasm of the skin, Squamous cell carcinoma, Hemolytic ... |
ORPHA:79277 |
Von Hippel-Lindau Syndrome |
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Neoplasm of the pancreas, Pancreatic cysts, Papillary cystadenoma of the epididymis, Polycythemia... |
OMIM:193300 |
Lymphedema-Distichiasis Syndrome |
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Abnormality of the pulmonary vasculature, Fibrosarcoma |
ORPHA:33001 |
Imerslund-Gräsbeck Syndrome |
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Megaloblastic anemia, Neutropenia, Anisopoikilocytosis, Macrocytic anemia, Thrombocytopenia, Oval... |
ORPHA:35858 |
Phosphoglycerate Kinase 1 Deficiency |
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Hemolytic anemia, Reticulocytosis, Erythroid hyperplasia |
OMIM:300653 |
Lambert-Eaton Myasthenic Syndrome |
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Small cell lung carcinoma |
ORPHA:43393 |
Fanconi Anemia, Complementation Group O |
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Cryptorchidism, Chromosome breakage, External genital hypoplasia |
OMIM:613390 |
Xeroderma Pigmentosum, Complementation Group D |
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Defective DNA repair after ultraviolet radiation damage, Melanoma |
OMIM:278730 |
Pleuropulmonary Blastoma |
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Pleuropulmonary blastoma, Rhabdomyosarcoma, Medulloblastoma |
OMIM:601200 |
Spherocytosis, Type 2 |
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Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Reticulocytosis, Jaundice |
OMIM:616649 |
Solitary Fibrous Tumor/Hemangiopericytoma |
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Genital neoplasm, Neoplasm, Neoplasm of the liver, Uterine neoplasm, Prostate cancer, Neoplasm of... |
ORPHA:2126 |
Hyperparathyroidism-Jaw Tumor Syndrome |
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Abnormality of the parathyroid morphology, Lipoma, Thyroid carcinoma, Parathyroid adenoma, Primar... |
ORPHA:99880 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
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Leukocytosis, Splenomegaly, Heinz bodies, Anisocytosis, Poikilocytosis, Fava bean-induced hemolyt... |
OMIM:300908 |
Solute carrier family 4 (anion exchanger), member 1 |
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Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Elliptocytosis, Stomatocytosis, Re... |
OMIM:109270 |
Neurofibromatosis Type 1 |
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Neoplasm, Chronic myelogenous leukemia, Plexiform neurofibroma, Precocious puberty, Pheochromocyt... |
ORPHA:636 |
Fragile X Syndrome |
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Macroorchidism, postpubertal, Congenital macroorchidism, Folate-dependent fragile site at Xq28 |
OMIM:300624 |
Parathyroid Carcinoma |
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Abnormality of the parathyroid morphology, Lipoma, Thyroid carcinoma, Parathyroid carcinoma, Prim... |
ORPHA:143 |
Proteus Syndrome |
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Lymphangioma, Ovarian neoplasm, Neoplasm of the thymus, Long penis, Retinal hamartoma, Enlarged p... |
ORPHA:744 |
Spherocytosis, Type 4 |
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Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis, Jaundice |
OMIM:612653 |
Monosomy 9Q22.3 |
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Medulloblastoma, Odontogenic keratocysts of the jaw, Nephroblastoma, Rhabdomyosarcoma, Basal cell... |
ORPHA:77301 |
Tuberous Sclerosis 1 |
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Optic nerve glioma, Subependymal nodules, Precocious puberty, Subungual fibromas, Cortical tubers... |
OMIM:191100 |
Familial Colorectal Cancer Type X |
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Neoplasm of the rectum, Neoplasm of the colon, Neoplasm of the pancreas, Pituitary adenoma, Neuro... |
ORPHA:440437 |
Atypical Werner Syndrome |
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Ovarian neoplasm, Renal neoplasm, Neoplasm of the small intestine, Neoplasm of the lung, Neoplasm... |
ORPHA:79474 |
Trichothiodystrophy |
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Recurrent bronchopulmonary infections, Cryptorchidism, Anemia, Gonadal dysgenesis, Increased mean... |
ORPHA:33364 |
Teratoma, Ovarian |
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Ovarian teratoma |
OMIM:166950 |
Rh Deficiency Syndrome |
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Hypochromia, Spherocytosis, Anisocytosis, Hepatosplenomegaly, Macrocytic anemia, Hemolytic anemia... |
ORPHA:71275 |
Peutz-Jeghers Syndrome |
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Neoplasm of the pancreas, Uterine neoplasm, Multiple gastric polyps, Breast carcinoma, Ovarian cy... |
OMIM:175200 |
De Sanctis-Cacchione Syndrome |
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Defective DNA repair after ultraviolet radiation damage, Melanoma, Bilateral cryptorchidism, Gona... |
OMIM:278800 |
Overhydrated Hereditary Stomatocytosis |
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Hepatomegaly, Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis, Jaundice |
OMIM:185000 |
Nijmegen Breakage Syndrome-Like Disorder |
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Chromosomal breakage induced by ionizing radiation |
OMIM:613078 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
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Decreased mean corpuscular volume, Hepatocellular necrosis, Hepatomegaly, Microvesicular hepatic ... |
OMIM:618278 |
Fraxf Syndrome |
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Folate-dependent fragile site at Xq28 |
ORPHA:100974 |
Fragile X Syndrome |
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Macroorchidism, Folate-dependent fragile site at Xq28 |
ORPHA:908 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
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Hemolytic anemia, Decreased hemoglobin concentration, Reticulocytosis |
ORPHA:713 |
Oral Submucous Fibrosis |
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Oropharyngeal squamous cell carcinoma |
ORPHA:357154 |
Leiomyoma, Uterine |
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Uterine leiomyoma |
OMIM:150699 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
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Hemolytic anemia, Reticulocytosis, Erythroid hyperplasia, Stomatocytosis |
OMIM:301083 |
Epidermodysplasia Verruciformis |
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Squamous cell carcinoma, Verrucae |
ORPHA:302 |
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
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Eosinophilia, Squamous cell carcinoma, Recurrent sinusitis, Decreased proportion of CD4-positive ... |
OMIM:243700 |
Ichthyosis, Hystrix-Like, With Deafness |
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Squamous cell carcinoma |
OMIM:602540 |
Steinert Myotonic Dystrophy |
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Cholelithiasis, Secondary hyperparathyroidism, Testicular atrophy, Decreased response to growth h... |
ORPHA:273 |
Polymerase Proofreading-Related Adenomatous Polyposis |
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Adenomatous colonic polyposis, Neoplasm of the rectum, Breast carcinoma, Endometrial carcinoma, A... |
ORPHA:447877 |
Sitosterolemia 1 |
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Episodic hemolytic anemia, Splenomegaly, Reticulocytosis, Chronic hemolytic anemia, Giant platele... |
OMIM:210250 |
Dyskeratosis Congenita, X-Linked |
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Hodgkin lymphoma, Anemia, Hypospadias, Leukopenia, Cirrhosis, Squamous cell carcinoma, Myelodyspl... |
OMIM:305000 |
Cryohydrocytosis |
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Hemolytic anemia, Reticulocytosis, Stomatocytosis, Splenomegaly |
OMIM:185020 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
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Schistocytosis, Prolonged neonatal jaundice, Microangiopathic hemolytic anemia, Reticulocytosis, ... |
OMIM:274150 |
Tuberous Sclerosis Complex |
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Subependymal nodules, Pituitary adenoma, Cortical tubers, Parathyroid adenoma, Carcinoid tumor, P... |
ORPHA:805 |
Cowden Syndrome 6 |
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Hydrocele testis, Breast carcinoma, Fibroadenoma of the breast, Ovarian cyst, Varicocele, Transit... |
OMIM:615109 |
Familial Pseudohyperkalemia |
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Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis |
ORPHA:90044 |
Fanconi Anemia, Complementation Group P |
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Squamous cell carcinoma, Cryptorchidism, Anemia, Pancytopenia |
OMIM:613951 |
Cushing Syndrome Due To Ectopic Acth Secretion |
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Medullary thyroid carcinoma, Atypical pulmonary carcinoid tumor, Lymphopenia, Prostate cancer, De... |
ORPHA:99889 |
Blackfan-Diamond Anemia |
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Increased mean corpuscular volume, Malignant genitourinary tract tumor, Neutropenia, Persistence ... |
ORPHA:124 |
Turcot Syndrome With Polyposis |
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Hepatoblastoma, Soft tissue neoplasm, Basal cell carcinoma, Intestinal polyposis, Cerebellar medu... |
ORPHA:99818 |
Elliptocytosis 2 |
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Hemolytic anemia, Reticulocytosis, Elliptocytosis |
OMIM:130600 |
Xeroderma Pigmentosum, Variant Type |
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Squamous cell carcinoma, Basal cell carcinoma, Cutaneous melanoma |
OMIM:278750 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 16 |
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Chromosomal breakage induced by crosslinking agents |
OMIM:619060 |
Fanconi Anemia, Complementation Group B |
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Micropenis, Hypergonadotropic hypogonadism, Aplastic anemia, Abnormal lung lobation, Hypogonadism... |
OMIM:300514 |
Multiple Endocrine Neoplasia Type 1 |
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Pituitary growth hormone cell adenoma, Thymoma, Intestinal carcinoid, Pituitary prolactin cell ad... |
ORPHA:652 |
Fanconi Anemia, Complementation Group V |
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Chromosomal breakage induced by crosslinking agents, Anemia, Thrombocytopenia, Neutropenia |
OMIM:617243 |
Icf Syndrome |
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Lymphopenia, Abnormality of neutrophils, Anemia, Abnormality of chromosome stability, Recurrent r... |
ORPHA:2268 |
Tropical Calcific Pancreatitis |
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Neoplasm of the pancreas, Pancreatic calcification |
OMIM:608189 |
Fanconi Anemia |
|
Neoplasm, Abnormality of the liver, Absent testis, Bicornuate uterus, Abnormal preputium morpholo... |
ORPHA:84 |
Nmda Receptor Encephalitis |
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Hodgkin lymphoma, Neuroblastoma, Ovarian teratoma, Neoplasm of the thymus, Neoplasm of the lung, ... |
ORPHA:217253 |
Rhabdomyosarcoma, Embryonal, 1 |
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Embryonal rhabdomyosarcoma |
OMIM:268210 |
Carney Triad |
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Gastrointestinal stroma tumor, Adrenocortical adenoma, Pheochromocytoma, Paraganglioma, Leiomyosa... |
ORPHA:139411 |
Pearson Syndrome |
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Hypoparathyroidism, Neutropenia, Hepatomegaly, Decreased response to growth hormone stimulation t... |
ORPHA:699 |
Rhabdomyosarcoma 2 |
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Alveolar rhabdomyosarcoma |
OMIM:268220 |
Fanconi Anemia, Complementation Group F |
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Decreased response to growth hormone stimulation test, Anemia, Leukopenia, Pneumonia, Chromosomal... |
OMIM:603467 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
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Microangiopathic hemolytic anemia, Reticulocytosis, Thrombocytopenia, Schistocytosis |
OMIM:235400 |
Fanconi Anemia, Complementation Group J |
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Chromosomal breakage induced by crosslinking agents |
OMIM:609054 |
Meningioma |
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Enlarged pituitary gland, Reduced circulating prolactin concentration, Neoplasm of the posterior ... |
ORPHA:2495 |
Grfoma |
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Neoplasm of the pancreas, Cholelithiasis, Pituitary adenoma, Elevated circulating growth hormone ... |
ORPHA:97261 |
Scleroderma, Familial Progressive |
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Chromosome breakage, Abnormality of chromosome stability |
OMIM:181750 |
Fanconi Anemia, Complementation Group I |
|
Chromosomal breakage induced by crosslinking agents, Decreased response to growth hormone stimula... |
OMIM:609053 |
Radial-Renal Syndrome |
|
Chromosome breakage |
OMIM:179280 |
Tempi Syndrome |
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Abnormality of the pulmonary vasculature, Increased hematocrit, Polycythemia, Hemangioma, Transud... |
ORPHA:284227 |
Abetalipoproteinemia |
|
Hepatomegaly, Cirrhosis, Reticulocytosis, Acanthocytosis, Elevated hepatic transaminase, Hepatic ... |
ORPHA:14 |
Vipoma |
|
Neoplasm of the pancreas, Pituitary adenoma, Neoplasm of the liver, Elevated circulating growth h... |
ORPHA:97282 |
Somatostatinoma |
|
Neoplasm of the pancreas, Medullary thyroid carcinoma, Pituitary adenoma, Elevated circulating gr... |
ORPHA:97283 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Lymphopenia, Recurrent upper respiratory tract infections, Leukopenia, B lymphocytopenia, Recurre... |
ORPHA:508542 |
Von Hippel-Lindau Disease |
|
Neoplasm of the pancreas, Endolymphatic sac tumor, Papillary cystadenoma of the epididymis, Polyc... |
ORPHA:892 |
Neurofibromatosis, Type I |
|
Optic nerve glioma, Plexiform neurofibroma, Parathyroid adenoma, Pheochromocytoma, Rhabdomyosarco... |
OMIM:162200 |
Ppoma |
|
Neoplasm of the pancreas, Cholelithiasis, Pituitary adenoma, Elevated circulating growth hormone ... |
ORPHA:97278 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Neoplasm of the pancreas, Neoplasm, Micropenis, Hypergonadotropic hypogonadism, Hypospadias, T ly... |
ORPHA:2959 |
Fanconi Anemia, Complementation Group Q |
|
Biliary atresia, Chromosome breakage |
OMIM:615272 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Leukocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Reticulocytosis, Thrombocytopenia |
ORPHA:90038 |
Diamond-Blackfan Anemia 1 |
|
Congenital hypoplastic anemia, Myelodysplasia, Osteosarcoma, Colon cancer, Thrombocytosis, Neutro... |
OMIM:105650 |
Tropical Pancreatitis |
|
Abnormal pancreatic duct morphology, Pancreatic calcification, Pancreatic adenocarcinoma, Jaundice |
ORPHA:103918 |
Fanconi Anemia, Complementation Group L |
|
Chromosome breakage, Micropenis, Aplasia of the uterus, Chromosomal breakage induced by crosslink... |
OMIM:614083 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Decreased mean corpuscular volume, Hepatosplenomegaly, Anisopoikilocytosis, Elevated hepatic tran... |
ORPHA:300298 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... |
OMIM:300835 |
Sotos Syndrome |
|
Hydrocele testis, Neoplasm, Neuroblastoma, Prolonged neonatal jaundice, Hemangioma, Hypospadias, ... |
ORPHA:821 |
Marburg Hemorrhagic Fever |
|
Orchitis, Lymphopenia, Leukopenia, Abnormal lymphocyte morphology, Elevated hepatic transaminase,... |
ORPHA:99826 |
Glucagonoma |
|
Neoplasm of the pancreas, Pituitary adenoma, Elevated circulating growth hormone concentration, H... |
ORPHA:97280 |
Primary Pigmented Nodular Adrenocortical Disease |
|
Pituitary adenoma, Fibroadenoma of the breast, Testicular neoplasm, Adrenal hyperplasia, Elevated... |
ORPHA:189439 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Neoplasm, Lipoma, Thyroid carcinoma, Uterine neoplasm, Neoplasm of the adrenal cortex, Lymphoma, ... |
ORPHA:109 |
Cartilage-Hair Hypoplasia |
|
Anemia, Hepatomegaly, Abnormality of chromosome stability, Neutropenia |
ORPHA:175 |
Xfe Progeroid Syndrome |
|
Elevated hepatic transaminase, Defective DNA repair after ultraviolet radiation damage |
OMIM:610965 |
Dyskeratosis Congenita |
|
Neoplasm of the pancreas, Neoplasm, Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Lymph... |
ORPHA:1775 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Leukopenia, Reticulocytosis, Abnormal erythrocyte enzyme level, Hemolytic anemia, Pancytopenia, A... |
ORPHA:447 |
Diamond-Blackfan Anemia 3 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope... |
OMIM:610629 |
Diamond-Blackfan Anemia 5 |
|
Hypospadias, Leukopenia, Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia |
OMIM:612528 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Optic nerve glioma, Hemangioma, Subcutaneous neurofibromas, Ossifying fibroma, Lisch nodules, Neu... |
ORPHA:363700 |
Diamond-Blackfan Anemia 12 |
|
Elevated red cell adenosine deaminase level, Normochromic anemia, Reticulocytopenia, Macrocytic a... |
OMIM:615550 |
Fanconi Anemia, Complementation Group U |
|
Chromosome breakage |
OMIM:617247 |
Diamond-Blackfan Anemia 4 |
|
Neutropenia, Erythroid hypoplasia, Reticulocytopenia, Macrocytic anemia |
OMIM:612527 |
Pearson Marrow-Pancreas Syndrome |
|
Hypoplastic anemia, Neutropenia, Sideroblastic anemia, Hepatomegaly, Hepatic failure, Pancreatic ... |
OMIM:557000 |
Riddle Syndrome |
|
Abnormal pulmonary interstitial morphology, Recurrent sinusitis, Chromosomal breakage induced by ... |
ORPHA:420741 |
Juvenile Polyposis Syndrome |
|
Small intestinal polyposis, Neoplasm of the pancreas, Hepatic arteriovenous malformation, Stomach... |
ORPHA:2929 |
Revesz Syndrome |
|
Aplastic anemia, Abnormality of chromosome stability |
OMIM:268130 |
Idiopathic Aplastic Anemia |
|
Pancytopenia, Neutropenia, Anemia, Thrombocytopenia, Reticulocytopenia |
ORPHA:88 |
Aregenerative Anemia |
|
Abnormal proportion of CD8-positive T cells, Neutropenia, Erythroid hypoplasia, Decreased proport... |
ORPHA:101096 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Hypospadias, Abnormal reticulocyte morphology |
ORPHA:2522 |
Transcobalamin Ii Deficiency |
|
Neutropenia, Macrocytic anemia, Reticulocytopenia, Pancytopenia |
OMIM:275350 |
Diamond-Blackfan Anemia 10 |
|
Steroid-responsive anemia, Anemia, Reticulocytopenia, Macrocytic anemia |
OMIM:613309 |