Myofibromatosis, Infantile, 1 |
|
Fibroma, Myofibromatosis |
OMIM:228550 |
Enchondromatosis, Multiple, Ollier Type |
|
Hemangioma, Multiple enchondromatosis, Chondrosarcoma |
OMIM:166000 |
Reticulum Cell Sarcoma |
|
Neoplasm, Sarcoma |
OMIM:267730 |
Juvenile Myelomonocytic Leukemia |
|
Juvenile myelomonocytic leukemia |
OMIM:607785 |
Lymphoblastic Leukemia, Acute, With Lymphomatous Features |
|
T-cell acute lymphoblastic leukemias, Acute lymphoblastic leukemia, Lymphoma |
OMIM:247640 |
Myeloproliferative Syndrome, Transient |
|
Transient myeloproliferative syndrome, Leukocytosis |
OMIM:159595 |
Li-Fraumeni Syndrome 2 |
|
Glioma, Breast carcinoma, Stomach cancer, Meningioma, Sarcoma |
OMIM:609265 |
Rhabdoid Tumor Predisposition Syndrome 2 |
|
Neoplasm of the central nervous system, Carcinoma |
OMIM:613325 |
Li-Fraumeni Syndrome |
|
Neoplasm of the pancreas, Lung adenocarcinoma, Choriocarcinoma, Breast carcinoma, Prostate cancer... |
OMIM:151623 |
Lichen Sclerosus Et Atrophicus |
|
Squamous cell carcinoma, Carcinoma |
OMIM:151590 |
Melanoma-Pancreatic Cancer Syndrome |
|
Oropharyngeal squamous cell carcinoma, Melanoma, Pancreatic squamous cell carcinoma, Squamous cel... |
OMIM:606719 |
Cerebral Sarcoma |
|
Neoplasm, Fibrosarcoma |
OMIM:117600 |
Ewing Sarcoma |
|
Ewing sarcoma |
OMIM:612219 |
Chondrosarcoma |
|
Chondrosarcoma |
OMIM:215300 |
Chondrosarcoma, Extraskeletal Myxoid |
|
Chondrosarcoma |
OMIM:612237 |
Retinitis Pigmentosa 57 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Cystoid macular edema, Rod-cone dystrophy |
OMIM:613582 |
Li-Fraumeni Syndrome |
|
Neoplasm of the rectum, Ovarian neoplasm, Stomach cancer, Non-Hodgkin lymphoma, Choroid plexus ca... |
ORPHA:524 |
Cramps, Familial Adolescent |
|
Elevated circulating creatine kinase concentration |
OMIM:218050 |
Muscle Cramps, Familial |
|
Elevated circulating creatine kinase concentration |
OMIM:158400 |
Isolated Asymptomatic Elevation Of Creatine Phosphokinase |
|
Elevated circulating creatine kinase concentration |
ORPHA:206599 |
Desmoid Disease, Hereditary |
|
Desmoid tumors, Colon cancer, Colorectal polyposis, Breast carcinoma |
OMIM:135290 |
Myeloproliferative Disorder, Chronic, With Eosinophilia |
|
Myeloproliferative disorder, Eosinophilia, Malignant eosinophil proliferation |
OMIM:131440 |
Colorectal Cancer, Susceptibility To, 12 |
|
Colorectal polyposis, Carcinoma |
OMIM:615083 |
Retinal Dysplasia, Primary |
|
Falciform retinal fold, Retinal dysplasia |
OMIM:312550 |
Familial Adenomatous Polyposis 3 |
|
Bladder neoplasm, Meningioma, Neoplasm of the skin, Breast carcinoma |
OMIM:616415 |
Multiple Fibroadenomas Of The Breast |
|
Fibroadenoma of the breast |
OMIM:615554 |
Leukemia, Acute, X-Linked |
|
Acute leukemia |
OMIM:308960 |
Leukemia, Acute Monocytic |
|
Acute monocytic leukemia |
OMIM:151380 |
Leukemia, Acute Lymphoblastic |
|
Acute lymphoblastic leukemia |
OMIM:613065 |
Leukemia, Acute Myeloid |
|
Acute myeloid leukemia |
OMIM:601626 |
Alveolar Soft Part Sarcoma |
|
Alveolar soft part sarcoma |
OMIM:606243 |
Sarcoma, Synovial |
|
Synovial sarcoma |
OMIM:300813 |
Epidermodysplasia Verruciformis, Susceptibility To, 3 |
|
Squamous cell carcinoma, Basal cell carcinoma |
OMIM:618267 |
Birt-Hogg-Dube Syndrome |
|
Fibrofolliculoma, Renal neoplasm, Multiple pulmonary cysts, Large intestinal polyposis, Multiple ... |
OMIM:135150 |
Multiple Enchondromatosis, Maffucci Type |
|
Hemangioma, Multiple enchondromatosis, Chondrosarcoma |
OMIM:614569 |
Serrated Polyposis Syndrome |
|
Adenomatous colonic polyposis, Hodgkin lymphoma, Ovarian neoplasm, Breast carcinoma, Prostate can... |
ORPHA:157798 |
Squamous Cell Carcinoma, Head And Neck |
|
Squamous cell carcinoma |
OMIM:275355 |
Tumor Predisposition Syndrome 1 |
|
Lung adenocarcinoma, Cutaneous melanoma, Malignant mesothelioma, Renal cell carcinoma, Uveal mela... |
OMIM:614327 |
Glioma Susceptibility 9 |
|
Glioma, Renal neoplasm, Neoplasm of the lung, Leukemia, Astrocytoma |
OMIM:616568 |
Leber Hereditary Optic Neuropathy, Modifier Of |
|
Optic atrophy, Leber optic atrophy |
OMIM:308905 |
Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem... |
OMIM:153600 |
Drug Metabolism, Poor, Cyp2D6-Related |
|
Neoplasm |
OMIM:608902 |
Cancer, Familial, With In Vitro Radioresistance |
|
Neoplasm |
OMIM:114450 |
Nasopharyngeal Carcinoma, Susceptibility To, 2 |
|
Neoplasm |
OMIM:161550 |
Adamantinoma Of Long Bones |
|
Neoplasm |
OMIM:102660 |
Multiple Self-Healing Squamous Epithelioma, Susceptibility To |
|
Neoplasm |
OMIM:132800 |
Myeloproliferative Disease, Autosomal Recessive |
|
Myeloproliferative disorder |
OMIM:254700 |
Undifferentiated Pleomorphic Sarcoma |
|
Soft tissue sarcoma, Abnormality of the peritoneum |
ORPHA:2023 |
Nut Midline Carcinoma |
|
Ewing sarcoma, Neoplasm, Neuroblastoma, Oropharyngeal squamous cell carcinoma, Pancreatic squamou... |
ORPHA:443167 |
Disseminated Superficial Actinic Porokeratosis |
|
Squamous cell carcinoma |
ORPHA:79152 |
Schwannomatosis 1 |
|
Schwannoma, Spinal cord tumor, Meningioma |
OMIM:162091 |
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
Large Congenital Melanocytic Nevus |
|
Neoplasm, Generalized hirsutism, Cutaneous melanoma, Rhabdomyosarcoma, Sarcoma, Neoplasm of the skin |
ORPHA:626 |
Prostate Cancer/Brain Cancer Susceptibility |
|
Neoplasm of the central nervous system, Prostate cancer |
OMIM:603688 |
Infantile Myofibromatosis |
|
Neoplasm of the pancreas, Abnormal hair morphology, Tracheoesophageal fistula, Neoplasm of the lu... |
ORPHA:2591 |
Plasma Fibronectin Deficiency |
|
Reduced circulating fibronectin level |
OMIM:614101 |
Cheilitis Glandularis |
|
Squamous cell carcinoma, Neoplasm |
ORPHA:1221 |
Fibromatosis, Gingival, 1 |
|
Gingival fibromatosis |
OMIM:135300 |
Schwannomatosis 2 |
|
Schwannoma, Spinal cord tumor |
OMIM:615670 |
Hereditary Breast And Ovarian Cancer Syndrome |
|
Neoplasm of the pancreas, Ovarian neoplasm, Breast carcinoma, Prostate cancer, Melanoma, Primary ... |
ORPHA:145 |
Oslam Syndrome |
|
Anemia, Osteosarcoma, Neoplasm |
OMIM:165660 |
Fraxf Syndrome |
|
Folate-dependent fragile site at Xq28 |
ORPHA:100974 |
Mismatch Repair Cancer Syndrome 1 |
|
Adenomatous colonic polyposis, Plexiform neurofibroma, Medulloblastoma, Neuroblastoma, Pleomorphi... |
OMIM:276300 |
Adrenocortical Carcinoma, Hereditary |
|
Choroid plexus carcinoma, Adrenocortical carcinoma |
OMIM:202300 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Increased circulating ferritin concentration, Multiple myeloma, Elevated circulating C-reactive p... |
ORPHA:158057 |
Griscelli Syndrome, Type 3 |
|
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes |
OMIM:609227 |
Familial Melanoma |
|
Neoplasm of the pancreas, Melanoma, Neoplasm of the breast, Neoplasm of the stomach, Abnormal hai... |
ORPHA:618 |
Familial Adenomatous Polyposis 4 |
|
Papilloma, Thyroid adenoma, Astrocytoma, Stomach cancer |
OMIM:617100 |
Hereditary Gingival Fibromatosis |
|
Gingival fibromatosis |
ORPHA:2024 |
Breast Cancer |
|
Breast carcinoma |
OMIM:114480 |
Erythroleukemia, Familial, Susceptibility To |
|
Refractory anemia with ringed sideroblasts, Splenomegaly, Anemia, Thrombocytopenia, Leukemia, Acu... |
OMIM:133180 |
Pancreatic Cancer, Susceptibility To, 5 |
|
Melanoma, Pancreatic adenocarcinoma |
OMIM:618680 |
Schopf-Schulz-Passarge Syndrome |
|
Sparse hair, Squamous cell carcinoma, Basal cell carcinoma, Poroma, Apocrine hidrocystoma |
OMIM:224750 |
Graying Of Hair, Precocious |
|
Premature graying of hair |
OMIM:139100 |
Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer |
|
Adenomatous colonic polyposis, Colon cancer, Acute myeloid leukemia |
OMIM:246470 |
Meningioma, Familial, Susceptibility To |
|
Meningioma |
OMIM:607174 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Increased mean corpuscular volume, Myelodysplasia, Thrombocytopenia, Acute myeloid leukemia |
OMIM:252270 |
Familial Multinodular Goiter |
|
Sertoli cell neoplasm, Thyroid carcinoma, Ovarian neoplasm, Pleuropulmonary blastoma, Medulloepit... |
ORPHA:276399 |
Nthl1-Related Attenuated Familial Adenomatous Polyposis |
|
Adenomatous colonic polyposis, Neoplasm of the rectum, Breast carcinoma, Duodenal adenocarcinoma,... |
ORPHA:454840 |
Retinitis Pigmentosa 36 |
|
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor... |
OMIM:610599 |
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 6 |
|
Lymphopenia, Reticular hyperpigmentation, Abnormally low T cell receptor excision circle level, D... |
OMIM:619767 |
Leukemia, Chronic Lymphocytic |
|
Chronic lymphatic leukemia |
OMIM:151400 |
Leukemia, Chronic Lymphocytic, Susceptibility To, 2 |
|
Chronic lymphatic leukemia |
OMIM:109543 |
Testicular Germ Cell Tumor |
|
Choriocarcinoma, Embryonal neoplasm, Teratoma |
OMIM:273300 |
Fibromatosis, Gingival, With Progressive Deafness |
|
Gingival fibromatosis |
OMIM:135550 |
Hemoglobin D Disease |
|
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... |
ORPHA:90039 |
Pleuropulmonary Blastoma |
|
Pleuropulmonary blastoma, Rhabdomyosarcoma, Medulloblastoma |
OMIM:601200 |
Rhabdomyosarcoma, Embryonal, 2 |
|
Pleuropulmonary blastoma, Nephroblastoma, Embryonal rhabdomyosarcoma, Ovarian thecoma, Multinodul... |
OMIM:180295 |
Desmoid Tumor |
|
Malabsorption, Desmoid tumors, Intestinal obstruction, Fibroma, Intestinal polyposis, Gastrointes... |
ORPHA:873 |
Apc-Related Attenuated Familial Adenomatous Polyposis |
|
Adrenocortical adenoma, Odontoma, Adrenocortical carcinoma, Lipoma, Multiple gastric polyps, Duod... |
ORPHA:247806 |
Mismatch Repair Cancer Syndrome 2 |
|
T-cell acute lymphoblastic leukemias, Colon cancer, Glioblastoma multiforme |
OMIM:619096 |
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 |
Hereditary Leiomyomatosis And Renal Cell Cancer |
|
Multiple cutaneous leiomyomas, Uterine leiomyosarcoma, Renal cell carcinoma, Cutaneous leiomyoma,... |
OMIM:150800 |
Leber Congenital Amaurosis 13 |
|
Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,... |
OMIM:612712 |
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease |
|
Squamous cell carcinoma, Recurrent cutaneous abscess formation |
OMIM:613736 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Pallor, Anemia |
ORPHA:46532 |
Schöpf-Schulz-Passarge Syndrome |
|
Ovarian neoplasm, Sparse hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Squamous cell carcino... |
ORPHA:50944 |
Dermatofibrosarcoma Protuberans |
|
Fibrosarcoma, Neoplasm of the skin |
ORPHA:31112 |
Cutaneous Neuroendocrine Carcinoma |
|
Multiple myeloma, Carcinoid tumor, Lymphoid leukemia, Basal cell carcinoma, Neoplasm of the outer... |
ORPHA:79140 |
Lung Cancer |
|
Lung adenocarcinoma, Non-small cell lung carcinoma, Alveolar cell carcinoma |
OMIM:211980 |
Premature Aging Syndrome, Okamoto Type |
|
Osteosarcoma, Neoplasm, Abnormal hair morphology |
OMIM:601811 |
Optic Atrophy--Spastic Paraplegia Syndrome |
|
Optic atrophy |
OMIM:311100 |
Fibromatosis, Gingival, 5 |
|
Gingival fibromatosis |
OMIM:617626 |
Optic Atrophy 2 |
|
Optic atrophy |
OMIM:311050 |
Colorectal Cancer |
|
Hereditary nonpolyposis colorectal carcinoma, Uterine leiomyosarcoma, Renal cell carcinoma, Neopl... |
OMIM:114500 |
Gonadoblastoma |
|
Gonadoblastoma |
OMIM:424500 |
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Squamous cell carcinoma, Multinodular goiter, Nail dystrophy, Alopecia |
OMIM:618373 |
Hyperkeratosis Lenticularis Perstans |
|
Squamous cell carcinoma, Basal cell carcinoma |
ORPHA:409 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Nail dysplasia, Abnormality of the dentition, Leukopenia, Oral leukoplakia, Aplastic anemia, Cere... |
OMIM:613989 |
Testicular Germ Cell Tumor 1 |
|
Germ cell neoplasia |
OMIM:300228 |
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Dominant |
|
Optic atrophy |
OMIM:165199 |
Macular Dystrophy With Central Cone Involvement |
|
Optic disc pallor, Macular dystrophy, Bull's eye maculopathy |
OMIM:616170 |
Desmoplastic Small Round Cell Tumor |
|
Neoplasm of the pancreas, Ileus, Ovarian neoplasm, Hepatomegaly, Neoplasm of the central nervous ... |
ORPHA:83469 |
Gluteal Muscles, Absence Of |
|
Optic nerve hypoplasia |
OMIM:231970 |
Retinoschisis, Autosomal Dominant |
|
Abnormality of macular pigmentation, Peripheral retinal degeneration, Retinoschisis |
OMIM:180270 |
Optic Atrophy 13 With Retinal And Foveal Abnormalities |
|
Optic atrophy |
OMIM:165510 |
Oslam Syndrome |
|
Increased mean corpuscular volume, Abnormality of neutrophils, Osteosarcoma |
ORPHA:2760 |
Gestational Choriocarcinoma |
|
Choriocarcinoma, Neoplasm, Trophoblastic tumor |
ORPHA:99926 |
Loose Anagen Hair Syndrome |
|
Loose anagen hair, Fair hair, Sparse hair |
OMIM:600628 |
Gardner Syndrome |
|
Hepatoblastoma, Adrenocortical adenoma, Odontoma, Small intestine carcinoid, Adrenocortical carci... |
ORPHA:79665 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Anal canal squamous carcinoma, B lymphocytopenia, T lymphocytopenia, Squamous cell carcinoma, Rec... |
ORPHA:217390 |
Optic Atrophy 5 |
|
Optic atrophy |
OMIM:610708 |
Attenuated Familial Adenomatous Polyposis |
|
Adenomatous colonic polyposis, Papilloma, Large intestinal polyposis, Duodenal polyposis, Adenoca... |
ORPHA:220460 |
Pentosuria |
|
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level |
ORPHA:2843 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Nail pits, Premature loss of teeth, Premature graying of hair, Lymphopenia, Reticular hyperpigmen... |
OMIM:127550 |
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness |
|
Optic atrophy |
OMIM:136600 |
Acquired Ichthyosis |
|
Neoplasm, Multiple myeloma, Sarcoma, Lymphoma |
ORPHA:454 |
Optic Nerve Hypoplasia, Bilateral |
|
Remnants of the hyaloid vascular system, Optic nerve aplasia, Morning glory anomaly, Optic nerve ... |
OMIM:165550 |
Mismatch Repair Cancer Syndrome 4 |
|
Adenomatous colonic polyposis, Non-Hodgkin lymphoma, Colon cancer, Glioblastoma multiforme, Astro... |
OMIM:619101 |
Polymerase Proofreading-Related Adenomatous Polyposis |
|
Adenomatous colonic polyposis, Neoplasm of the rectum, Breast carcinoma, Endometrial carcinoma, A... |
ORPHA:447877 |
Glioma Susceptibility 3 |
|
Medulloblastoma, Astrocytoma, Glioblastoma multiforme |
OMIM:613029 |
Oncogenic Osteomalacia |
|
Hypophosphatemia, Giant cell tumor of bone, Hypocalcemia, Neurofibromas, Osteosarcoma, Neoplasm o... |
ORPHA:352540 |
Maffucci Syndrome |
|
Chondrosarcoma, Pituitary adenoma, Ovarian neoplasm, Parathyroid adenoma, Breast carcinoma, Exost... |
ORPHA:163634 |
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia |
|
Unilateral vestibular schwannoma, Carcinoma |
OMIM:603641 |
Stargardt Disease 1 |
|
Retinitis pigmentosa inversa, Bull's eye maculopathy, Macular degeneration |
OMIM:248200 |
Microphthalmia, Isolated 8 |
|
Retinal coloboma, Optic nerve hypoplasia, Retinal detachment, Anophthalmia, True anophthalmia, Mi... |
OMIM:615113 |
Paget Disease Of Bone 3 |
|
Osteosarcoma |
OMIM:167250 |
Xeroderma Pigmentosum Variant |
|
Squamous cell carcinoma, Melanoma, Basal cell carcinoma |
ORPHA:90342 |
Osteogenic Sarcoma |
|
Osteosarcoma, Retinoblastoma |
OMIM:259500 |
Peutz-Jeghers Syndrome |
|
Neoplasm of the rectum, Stomach cancer, Neoplasm of the small intestine, Rectal prolapse, Gastroi... |
ORPHA:2869 |
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole |
|
Retinal dystrophy, Reticular pigmentary degeneration, Drusen |
OMIM:267800 |
Metaphyseal Dysplasia, Anetoderma, And Optic Atrophy |
|
Optic atrophy, Cranial nerve compression, Macular atrophy |
OMIM:250450 |
Leber Congenital Amaurosis 19 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Retinal degeneration |
OMIM:618513 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Testicular atrophy, Reticulated skin pigmentation, Nail dystrophy, Pancytopenia, Bone marrow hypo... |
OMIM:613987 |
Polyposis Syndrome, Hereditary Mixed, 2 |
|
Adenomatous colonic polyposis, Colon cancer, Juvenile colonic polyposis, Hyperplastic colonic pol... |
OMIM:610069 |
Pancreatic Cancer |
|
Neoplasm of the pancreas |
OMIM:260350 |
Isolated Optic Nerve Hypoplasia/Aplasia |
|
Optic nerve hypoplasia, Peripheral vitreous opacities, Pseudopapilledema, Unilateral microphthalm... |
ORPHA:137902 |
Milroy Disease |
|
Hydrocele testis, Angiosarcoma, Neoplasm of the skin |
ORPHA:79452 |
Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Nail dysplasia, Cryptorchidism, Alopecia, Leukopenia, Oral leukoplakia, Aplastic anemia, Cerebell... |
OMIM:613990 |
Ollier Disease |
|
Chondrosarcoma, Neoplasm, Lymphangioma, Anemia, Hemangioma, Multiple enchondromatosis, Sarcoma, V... |
ORPHA:296 |
Progressive Osseous Heteroplasia |
|
Abnormality of the parathyroid gland, Sarcoma |
ORPHA:2762 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Elevated circulating C-reactive protein concentration, Hemophagocytosis, Hepatic fa... |
OMIM:308240 |
Polyposis, Intestinal, With Multiple Exostoses |
|
Multiple exostoses, Intestinal polyposis |
OMIM:175450 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Hurthle cell thyroid adenoma, Parathyroid adenoma, Parathyroid carcinoma, Nephroblastoma, Renal c... |
OMIM:145001 |
Rhabdomyosarcoma, Embryonal, 1 |
|
Embryonal rhabdomyosarcoma |
OMIM:268210 |
Glaucoma 1, Open Angle, P |
|
Increased cup-to-disc ratio |
OMIM:177700 |
Bornholm Eye Disease |
|
Optic nerve hypoplasia, Abnormality of retinal pigmentation |
OMIM:300843 |
Rhabdomyosarcoma 2 |
|
Alveolar rhabdomyosarcoma |
OMIM:268220 |
Punctate Palmoplantar Keratoderma Type 1 |
|
Esophageal neoplasm, Hodgkin lymphoma, Breast carcinoma, Stomach cancer, Prostate cancer, Melanom... |
ORPHA:79501 |
Retinoblastoma |
|
Ewing sarcoma, Retinoblastoma, Glioma, Cleft palate, Melanoma, Rhabdomyosarcoma, Lymphoma, Osteos... |
ORPHA:790 |
Dyskeratosis Congenita, Autosomal Recessive 3 |
|
Abnormality of skin pigmentation, Nail dystrophy, Pancytopenia, Bone marrow hypocellularity, Oral... |
OMIM:613988 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Fibrosarcoma, Limb-girdle muscle weakness, Histiocytoma, Osteosarcoma, Limb muscle weakness, Prem... |
OMIM:112250 |
Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Nail dysplasia, Sparse scalp hair, Pterygium of nails, Sparse eyelashes, Aplastic anemia, Microdo... |
OMIM:224230 |
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 |
Fanconi Anemia, Complementation Group G |
|
Myelodysplasia, Neutropenia, Anemia, Thrombocytopenia, Leukemia |
OMIM:614082 |
Glioma Susceptibility 1 |
|
Ependymoma, Astrocytoma, Glioblastoma multiforme |
OMIM:137800 |
N Syndrome |
|
Neoplasm, Leukemia, Cryptorchidism |
OMIM:310465 |
Axin2-Related Attenuated Familial Adenomatous Polyposis |
|
Adenomatous colonic polyposis, Neoplasm of the rectum, Colon cancer, Colorectal polyposis |
ORPHA:401911 |
Epidermodysplasia Verruciformis, Susceptibility To, 2 |
|
Squamous cell carcinoma of the skin, Verruca plana |
OMIM:618231 |
Dyskeratosis Congenita, Autosomal Dominant 6 |
|
Abnormality of the dentition, Aplastic anemia, Cerebellar hypoplasia, Esophageal stenosis, Pancyt... |
OMIM:616553 |
Colorectal Cancer, Susceptibility To, 10 |
|
Endometrial carcinoma, Colorectal polyposis, Carcinoma |
OMIM:612591 |
Carney Triad |
|
Gastrointestinal stroma tumor, Adrenocortical adenoma, Pheochromocytoma, Paraganglioma, Leiomyosa... |
ORPHA:139411 |
Macular Degeneration, Age-Related, 13 |
|
Macular scar, Choroidal neovascularization, Macular degeneration, Drusen |
OMIM:615439 |
Gcgr-Related Hyperglucagonemia |
|
Neoplasm of the pancreas, Cholelithiasis, Abnormal biliary tract morphology, Glucagonoma |
ORPHA:438274 |
Rhabdoid Tumor Predisposition Syndrome 1 |
|
Choroid plexus carcinoma, Medulloblastoma |
OMIM:609322 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Increased circulating antibody level, Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, L... |
OMIM:615285 |
Myelocytic Leukemia-Like Syndrome, Familial, Chronic |
|
Chronic myelogenous leukemia |
OMIM:600080 |
Retinitis Pigmentosa 48 |
|
Rod-cone dystrophy, Macular degeneration |
OMIM:613827 |
Exudative Vitreoretinopathy 7 |
|
Retinal degeneration, Vitreoretinopathy, Retinal hole |
OMIM:617572 |
Teratoma, Pineal |
|
Teratoma |
OMIM:273120 |
Hepatocellular Carcinoma |
|
Hepatocellular carcinoma, Micronodular cirrhosis, Subacute progressive viral hepatitis |
OMIM:114550 |
Dyskeratosis Congenita, Autosomal Recessive 6 |
|
Premature loss of teeth, Sparse hair, Alopecia, Cerebellar hypoplasia, Carious teeth, Abnormality... |
OMIM:616353 |
Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy, Sarcoma |
ORPHA:66661 |
Paraneoplastic Pemphigus |
|
Thymoma, B-cell lymphoma, Sarcoma |
ORPHA:63455 |
Ocular Pigment Dispersion With Or Without Glaucoma |
|
Optic atrophy |
OMIM:600510 |
Polyposis, gastric |
|
Multiple gastric polyps |
OMIM:175020 |
Epidermodysplasia Verruciformis, X-Linked |
|
Squamous cell carcinoma of the skin, Verrucae |
OMIM:305350 |
Familial Colorectal Cancer Type X |
|
Neoplasm of the rectum, Neoplasm of the colon, Neoplasm of the pancreas, Pituitary adenoma, Neuro... |
ORPHA:440437 |
Bazex Syndrome |
|
Lung adenocarcinoma, Neoplasm, Liposarcoma, Yellow nails, Nail dystrophy, Anemia |
ORPHA:166113 |
Necrobiosis Lipoidica |
|
Squamous cell carcinoma, Granuloma, Abnormality of neutrophil physiology |
ORPHA:542592 |
Retinitis Pigmentosa 71 |
|
Perifoveal ring of hyperautofluorescence, Rod-cone dystrophy, Attenuation of retinal blood vessel... |
OMIM:616394 |
Hereditary Leiomyomatosis And Renal Cell Cancer |
|
Esophageal neoplasm, Uterine leiomyoma, Barrett esophagus, Multiple cutaneous leiomyomas, Uterine... |
ORPHA:523 |
Hereditary Mixed Polyposis Syndrome |
|
Adenomatous colonic polyposis, Neoplasm of the rectum, Thyroid carcinoma, Prostate cancer, Hyperp... |
ORPHA:157794 |
Schnitzler Syndrome |
|
Hepatomegaly, Skin rash, Splenomegaly, Leukocytosis, Lymphoma, Arthritis, Vasculitis, Anemia, Lym... |
ORPHA:37748 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Microcephaly, Cerebellar hypoplasia, Microphthalmia, Retinal dysplasia, Hypoplasia of the brainstem |
OMIM:615771 |
Autoimmune Hemolytic Anemia, Cold Type |
|
Abnormal leukocyte morphology, Pallor, Hemolytic anemia, Splenomegaly |
ORPHA:228312 |
Gastric Cancer |
|
Stomach cancer |
OMIM:613659 |
Alpha-1-Antitrypsin Deficiency |
|
Panacinar emphysema, Reduced serum alpha-1-antitrypsin, Chronic pulmonary obstruction, Chronic br... |
OMIM:613490 |
Ganglioneuroma |
|
Neoplasm of the adrenal gland, Multiple intestinal neurofibromatosis, Abnormal rectum morphology,... |
ORPHA:251992 |
Familial Adenomatous Polyposis |
|
Cholangiocarcinoma, Pancreatitis, Hepatoblastoma, Stomach cancer, Soft tissue neoplasm, Odontoma,... |
ORPHA:733 |
Lynch Syndrome |
|
Neoplasm of the rectum, Neoplasm of the pancreas, Pituitary adenoma, Malabsorption, Ovarian neopl... |
ORPHA:144 |
Rhabdoid Tumor |
|
Neoplasm of the liver, Renal neoplasm, Neoplasm of the central nervous system, Hypercalcemia, Ane... |
ORPHA:69077 |
Retinal Degeneration And Epilepsy |
|
Retinal degeneration |
OMIM:267740 |
Epidermolysis Bullosa Simplex With Mottled Pigmentation |
|
Mixed hypo- and hyperpigmentation of the skin, Nail dysplasia, Oral mucosal blisters, Hypermelano... |
ORPHA:79397 |
Liposarcoma |
|
Sarcoma |
ORPHA:69078 |
Leukemia, Chronic Myeloid |
|
Ph-positive acute lymphoblastic leukemia, Chronic myelogenous leukemia |
OMIM:608232 |
Seizures, Cortical Blindness, And Microcephaly Syndrome |
|
Optic atrophy, Microcephaly, Hypoplasia of the corpus callosum |
OMIM:616632 |
Pancreatic Cancer, Susceptibility To, 1 |
|
Pancreatic adenocarcinoma |
OMIM:606856 |
Monocyte Chemotactic Disorder |
|
Cutaneous anergy |
OMIM:252250 |
Retinitis Pigmentosa 30 |
|
Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood vessels, Optic atrophy, B... |
OMIM:607921 |
Generalized Eruptive Histiocytosis |
|
Histiocytosis, Leukemia, Hypereosinophilia |
ORPHA:157991 |
Xeroderma Pigmentosum, Complementation Group F |
|
Flexion contracture, Keratoacanthoma, Squamous cell carcinoma, Basal cell carcinoma, Neoplasm of ... |
OMIM:278760 |
Retinitis Pigmentosa 38 |
|
Optic disc pallor, Peripheral retinal atrophy, Rod-cone dystrophy, Macular atrophy |
OMIM:613862 |
Fetal Cytomegalovirus Syndrome |
|
Anemia, Hepatomegaly, Splenomegaly |
ORPHA:294 |
Pancreatic Cancer, Susceptibility To, 2 |
|
Neoplasm of the pancreas |
OMIM:613347 |
Esophageal Cancer |
|
Esophageal carcinoma |
OMIM:133239 |
Intracranial Hypertension, Idiopathic |
|
Papilledema |
OMIM:243200 |
Aniridia-Intellectual Disability Syndrome |
|
Optic nerve hypoplasia, Aniridia |
ORPHA:1068 |
Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Ataxia, Dysmetria, Acute myelomonocytic leukemia, Impaired vibration sensatio... |
OMIM:159550 |
Craniotelencephalic Dysplasia |
|
Optic nerve hypoplasia, Cerebellar hypoplasia, Arrhinencephaly, Microphthalmia, Agenesis of corpu... |
OMIM:218670 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal hemoglobin, Splenomegaly, Abnormal platelet function, Anemia, Thrombocytopenia |
ORPHA:231393 |
Ichthyosis, Hystrix-Like, With Deafness |
|
Sparse scalp hair, Sparse eyebrow, Sparse eyelashes, Squamous cell carcinoma, Absent eyelashes, S... |
OMIM:602540 |
Budd-Chiari Syndrome |
|
Cirrhosis, Hepatocellular carcinoma, Budd-Chiari syndrome |
OMIM:600880 |
Chromosome 14Q32 Duplication Syndrome, 700-Kb |
|
Myeloid leukemia |
OMIM:616604 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Pallor, Poikilocytosi... |
OMIM:615234 |
Familial Adenomatous Polyposis 2 |
|
Adenomatous colonic polyposis, Colon cancer |
OMIM:608456 |
Retinoblastoma |
|
Ewing sarcoma, Retinoblastoma, Lymphoma, Osteosarcoma, Leukemia, Pinealoma |
OMIM:180200 |
Retinitis Pigmentosa 33 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Opt... |
OMIM:610359 |
Hypereosinophilic Syndrome, Idiopathic |
|
Myeloproliferative disorder, Eosinophilia, Hepatomegaly, Splenomegaly |
OMIM:607685 |
Mutyh-Related Attenuated Familial Adenomatous Polyposis |
|
Adenomatous colonic polyposis, Large intestinal polyposis, Adenocarcinoma of the colon, Rectal po... |
ORPHA:247798 |
Joubert Syndrome 40 |
|
Optic nerve hypoplasia |
OMIM:619582 |
Lymphedema, Primary, With Myelodysplasia |
|
Myelodysplasia, Pancytopenia, Verrucae, Leukemia, Acute myeloid leukemia, Decreased CD4:CD8 ratio |
OMIM:614038 |
Fanconi Renotubular Syndrome 5 |
|
Lung adenocarcinoma, Hypophosphatemic rickets, Hypophosphatemia, Emphysema, Pulmonary fibrosis |
OMIM:618913 |
Tumor Predisposition Syndrome 2 |
|
Adenomatous colonic polyposis, Juvenile type ovarian granulosa cell tumor, Colon cancer, Uveal me... |
OMIM:619975 |
Colorectal Cancer, Hereditary Nonpolyposis, Type 2 |
|
Colon cancer |
OMIM:609310 |
Lynch Syndrome I |
|
Colon cancer |
OMIM:120435 |
Colorectal Cancer, Susceptibility To, 3 |
|
Colon cancer |
OMIM:612229 |
Spastic Ataxia 7, Autosomal Dominant |
|
Optic atrophy |
OMIM:108650 |
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome |
|
Optic nerve hypoplasia, Cerebellar hypoplasia |
ORPHA:65288 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hepatomegaly, Lymphocytosis, Splenomegaly, Lymphoproliferative disorder, Monocytosis, Autoimmune ... |
OMIM:614470 |
Gastrointestinal Stromal Tumor |
|
Neoplasm of the colon, Neoplasm of the rectum, Esophageal neoplasm, Gastrointestinal stroma tumor... |
ORPHA:44890 |
Foveal Hypoplasia-Presenile Cataract Syndrome |
|
Optic atrophy |
ORPHA:2253 |
Polymicrogyria With Optic Nerve Hypoplasia |
|
Optic nerve hypoplasia, Agenesis of corpus callosum, Hypoplasia of the brainstem |
ORPHA:250972 |
Carcinoma Of Esophagus |
|
Esophageal neoplasm, Gastroesophageal reflux, Barrett esophagus, Weight loss, Dysphagia, Obesity,... |
ORPHA:70482 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Optic nerve hypoplasia, Retinal detachment, Hypoplasia of the pons, Cerebellar hypoplasia, Microp... |
OMIM:615181 |
Pilomatrixoma |
|
Pilomatrixoma |
OMIM:132600 |
Epidermal Nevus Syndrome |
|
Lipoma, Rhabdomyosarcoma, Spinal cord tumor, Weakness of long finger extensor muscles |
ORPHA:35125 |
Acute Myelomonocytic Leukemia |
|
Leukocytosis, Pallor, Eosinophilia, Anemia, Thrombocytopenia |
ORPHA:517 |
Peripheral Cone Dystrophy |
|
Optic atrophy, Peripheral retinal degeneration, Optic disc pallor, Cone/cone-rod dystrophy |
OMIM:609021 |
Griscelli Syndrome, Type 1 |
|
Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Silver-gray hair, White... |
OMIM:214450 |
Primary Erythromelalgia |
|
Leukemia, Recurrent respiratory infections |
ORPHA:90026 |
Acquired Idiopathic Sideroblastic Anemia |
|
Anemia of inadequate production, Granulocytopenia, Hepatomegaly, Neutropenia, Leukocytosis, Splen... |
ORPHA:75564 |
Cronkhite-Canada Syndrome |
|
Neoplasm, Malabsorption, Hepatomegaly, Patchy alopecia, Stomach cancer, Splenomegaly, Alopecia, S... |
ORPHA:2930 |
Cone-Rod Dystrophy 5 |
|
Macular degeneration |
OMIM:600977 |
Macular Degeneration, Age-Related, 6 |
|
Macular degeneration |
OMIM:613757 |
Macular Degeneration, Age-Related, 15 |
|
Macular degeneration |
OMIM:615591 |
Macular Degeneration, Age-Related, 11 |
|
Macular degeneration |
OMIM:611953 |
Macular Degeneration, Age-Related, 4 |
|
Macular degeneration |
OMIM:610698 |
Macular Degeneration, Age-Related, 2 |
|
Macular degeneration |
OMIM:153800 |
Macular Degeneration, Early-Onset |
|
Choroidal neovascularization, Macular degeneration |
OMIM:616118 |
Thrombocytopenia 2 |
|
Thrombocytopenia, Leukocytosis |
OMIM:188000 |
Palmoplantar Carcinoma, Multiple Self-Healing |
|
Squamous cell carcinoma, Nail dystrophy, Carcinoma |
OMIM:615225 |
X-Linked Retinal Dysplasia |
|
Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Retinal dysplasia |
ORPHA:1852 |
Cowden Syndrome 7 |
|
Papilloma, Breast carcinoma, Hemangioma, Trichilemmoma, Papillary thyroid carcinoma, Intestinal p... |
OMIM:616858 |
Nijmegen Breakage Syndrome |
|
Cleft palate, T-cell lymphoma, Anorectal anomaly, Skeletal muscle atrophy, Anal atresia, Abnormal... |
ORPHA:647 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anemia, Anisocytosis, Pallor, Poikil... |
OMIM:615631 |
Retinitis Pigmentosa 63 |
|
Optic disc pallor, Rod-cone dystrophy |
OMIM:614494 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Myelodysplasia, Acute lymphoblastic leukemia, Neutropenia |
OMIM:610738 |
Liberfarb Syndrome |
|
Retinal degeneration, Retinal pigment epithelial mottling, Microcephaly, Optic disc pallor, Bone ... |
OMIM:618889 |
Spastic Ataxia 4, Autosomal Recessive |
|
Optic atrophy |
OMIM:613672 |
Retinitis Pigmentosa 70 |
|
Optic disc pallor, Retinal degeneration, Rod-cone dystrophy |
OMIM:615922 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Optic nerve hypoplasia, Microcephaly, Microphthalmia |
OMIM:617914 |
Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Adenomatous colonic polyposis, Papilloma, Neoplasm of the rectum, Multiple gastric polyps, Stomac... |
ORPHA:480536 |
Macular Dystrophy, Retinal, 1, North Carolina Type |
|
Abnormality of macular pigmentation, Macular dystrophy, Peripheral retinal atrophy, Drusen |
OMIM:136550 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Hepatomegaly, Splenomegaly |
ORPHA:2274 |
Oral Submucous Fibrosis |
|
Oropharyngeal squamous cell carcinoma, Flexion contracture |
ORPHA:357154 |
Thrombocytopenic Purpura, Autoimmune |
|
Thrombocytopenia |
OMIM:188030 |
Hoyeraal-Hreidarsson Syndrome |
|
Abnormal leukocyte morphology, Sparse scalp hair, Premature graying of hair, Cerebellar hypoplasi... |
ORPHA:3322 |
Acute Promyelocytic Leukemia |
|
Acute promyelocytic leukemia |
OMIM:612376 |
Familial Adenomatous Polyposis 1 |
|
Adenomatous colonic polyposis, Medulloblastoma, Hepatoblastoma, Multiple gastric polyps, Fibroade... |
OMIM:175100 |
Central Retinal Vein Occlusion |
|
Cystoid macular edema, Macular degeneration, Papilledema, Macular edema, Retinal neovascularizati... |
ORPHA:411527 |
Nijmegen Breakage Syndrome |
|
Anal atresia, Medulloblastoma, Glioma, Recurrent infection of the gastrointestinal tract, Cleft p... |
OMIM:251260 |
Glycine N-Methyltransferase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly |
OMIM:606664 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form |
|
Mixed hypo- and hyperpigmentation of the skin, Spotty hyperpigmentation, Oral mucosal blisters, H... |
ORPHA:79399 |
Epidermodysplasia Verruciformis |
|
Squamous cell carcinoma, Verrucae |
ORPHA:302 |
Osteopetrosis, Autosomal Dominant 1 |
|
Osteopetrosis, Calvarial osteosclerosis, Thickened cortex of long bones, Generalized osteosclerosis |
OMIM:607634 |
Congenital Disorder Of Glycosylation, Type Icc |
|
Hepatomegaly |
OMIM:301031 |
Stargardt Disease 4 |
|
Macular degeneration, Retinal flecks |
OMIM:603786 |
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 2 |
|
Cirrhosis, Aplastic anemia, Myeloid leukemia, Pancytopenia, Bone marrow hypocellularity, Leukemia |
OMIM:614743 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Splenomegaly, Myelodysplasia, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, A... |
ORPHA:231401 |
Rothmund-Thomson Syndrome, Type 1 |
|
Sparse hair, Absent eyebrow, Hypothyroidism, Conical tooth, Absent eyelashes, Nail dystrophy, Mal... |
OMIM:618625 |
Colorectal Cancer, Hereditary Nonpolyposis, Type 6 |
|
Hereditary nonpolyposis colorectal carcinoma |
OMIM:614331 |
Colorectal Cancer, Hereditary Nonpolyposis, Type 7 |
|
Hereditary nonpolyposis colorectal carcinoma |
OMIM:614385 |
Sea-Blue Histiocyte Disease |
|
Sea-blue histiocytosis, Splenomegaly, Cirrhosis, Elevated circulating aspartate aminotransferase ... |
OMIM:269600 |
Autosomal Dominant Generalized Dystrophic Epidermolysis Bullosa |
|
Oral mucosal blisters, Absent fingernail, Absent toenail, Dystrophic toenail, Nail dystrophy, Ero... |
ORPHA:231568 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Leukopenia, Monocytosis, Lymphoma, Myelodysplasia, Refractory anemia, Acute myeloid leukemia |
OMIM:616871 |
Revesz Syndrome |
|
Sparse hair, Aplastic anemia, Cerebellar hypoplasia, Ridged fingernail, Fine hair, Nail dystrophy... |
OMIM:268130 |
Meige Disease |
|
Angiosarcoma, Pleural effusion |
ORPHA:90186 |
Eosinophilia, Familial |
|
Leukocytosis, Eosinophilia, Myocardial eosinophilic infiltration, Anemia, Thrombocytopenia |
OMIM:131400 |
Septooptic Dysplasia |
|
Optic nerve hypoplasia, Agenesis of corpus callosum, Optic disc hypoplasia |
OMIM:182230 |
Pyomyositis |
|
Testicular teratoma, Weight loss |
ORPHA:764 |
Ovarian Cancer |
|
Dysgerminoma, Breast carcinoma, Ovarian papillary adenocarcinoma |
OMIM:167000 |
Spastic Paraplegia 74, Autosomal Recessive |
|
Optic atrophy, Peripheral axonal neuropathy |
OMIM:616451 |
Unclassified Myelodysplastic Syndrome |
|
Myelodysplasia, Leukocytosis, Acute myeloid leukemia, Multiple lineage myelodysplasia |
ORPHA:98827 |
Common Variable Immunodeficiency |
|
Anal atresia, Lymphopenia, Otitis media, Splenomegaly, Gastrointestinal stroma tumor, Autoimmune ... |
ORPHA:1572 |
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Eosinophilic infiltration of the esophagus, Eosinophilia, Recurrent sinusitis, Squamous cell carc... |
OMIM:243700 |
Nanophthalmos 4 |
|
Optic disc drusen, Microphthalmia |
OMIM:615972 |
Immunodeficiency 21 |
|
Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemia, Myeloid leukemia, Myelodys... |
OMIM:614172 |
Werner Syndrome |
|
Ovarian neoplasm, Neoplasm of the small intestine, Neoplasm of the oral cavity, White forelock, S... |
ORPHA:902 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Lymphopenia, Stroke, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Recu... |
ORPHA:444463 |
Epidermolysis Bullosa Simplex 2F, With Mottled Pigmentation |
|
Nail dysplasia, Mottled pigmentation of the trunk and proximal extremities, Hypoplastic fifth toe... |
OMIM:131960 |
Medulloblastoma |
|
Medulloblastoma |
OMIM:155255 |
Peutz-Jeghers Syndrome |
|
Neoplasm of the pancreas, Intestinal bleeding, Uterine neoplasm, Multiple gastric polyps, Breast ... |
OMIM:175200 |
Albinism, Oculocutaneous, Type Iii |
|
Partial albinism, Albinism, Red hair |
OMIM:203290 |
Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Oral mucosal blisters, Sparse body hair, Anonychia, Enamel hypoplasia, Abnormality of skin pigmen... |
ORPHA:79402 |
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity |
|
Optic nerve hypoplasia, Microcephaly, Hypoplasia of the corpus callosum |
OMIM:618890 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Werner Syndrome |
|
Elevated hemoglobin A1c, Hypertriglyceridemia, Osteosarcoma, Meningioma, Alopecia of scalp |
OMIM:277700 |
Exudative Vitreoretinopathy 3 |
|
Exudative vitreoretinopathy, Retinal detachment, Retinal fold, Retinal hole, Retinal exudate |
OMIM:605750 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Abnormal cardiac septum morphology, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:3319 |
Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Cone-Rod Dystrophy 17 |
|
Optic disc pallor, Cone/cone-rod dystrophy |
OMIM:615163 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Acute monocytic leukemia, Eosinophilia, Monocytosis, Congenital agranulocytosis, Thrombocytosis, ... |
OMIM:202700 |
Retinitis Pigmentosa 50 |
|
Rod-cone dystrophy, Retinal detachment, Attenuation of retinal blood vessels, Retinal flecks, Opt... |
OMIM:613194 |
Ectodermal Dysplasia 8, Hair/Tooth/Nail Type |
|
Sparse scalp hair, Aplasia/Hypoplasia of the eyebrow, Agenesis of permanent teeth, Macrodontia, S... |
OMIM:602401 |
Macular Degeneration, X-Linked Atrophic |
|
Macular degeneration |
OMIM:300834 |
Recurrent Respiratory Papillomatosis |
|
Recurrent upper respiratory tract infections, Squamous cell carcinoma, Recurrent pneumonia, Dysph... |
ORPHA:60032 |
Wagner Vitreoretinopathy |
|
Exudative vitreoretinopathy, Peripheral tractional retinal detachment, Chorioretinal atrophy, Vit... |
OMIM:143200 |
Wt Limb-Blood Syndrome |
|
Hypoplastic anemia, Joint contracture of the 5th finger, Pancytopenia, Cryptorchidism, Thrombocyt... |
OMIM:194350 |
Night Blindness, Congenital Stationary, Type 1G |
|
Optic disc pallor, Congenital stationary night blindness, Rod-cone dystrophy |
OMIM:616389 |
Turcot Syndrome With Polyposis |
|
Hepatoblastoma, Soft tissue neoplasm, Basal cell carcinoma, Intestinal polyposis, Cerebellar medu... |
ORPHA:99818 |
Localized Dystrophic Epidermolysis Bullosa, Nails Only |
|
Fragile nails, Onychogryposis of fingernail, Onychogryposis of toenails, Absent toenail, Dystroph... |
ORPHA:158676 |
Neurofibromatosis, Type I |
|
Optic nerve glioma, Plexiform neurofibroma, Parathyroid adenoma, Pheochromocytoma, Rhabdomyosarco... |
OMIM:162200 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Increased mean corpuscular volume, Neutropenia, Myelodysplasia, Pancytopenia, Anemia, Thrombocyto... |
OMIM:619041 |
Polyposis, Intestinal, Scattered And Discrete |
|
Discrete intestinal polyps |
OMIM:175400 |
Sessile Serrated Polyposis Cancer Syndrome |
|
Serrated intestinal polyps |
OMIM:617108 |
Epidermolysis Bullosa, Junctional 4, Intermediate |
|
Macular hyperpigmented dermopathy, Carious teeth, Dental enamel pits, Nail dystrophy, Dystrophic ... |
OMIM:619787 |
Mosaic Variegated Aneuploidy Syndrome |
|
Neoplasm, Duodenal atresia, Cleft palate, Stomach cancer, Muscular dystrophy, Nephroblastoma, Rha... |
ORPHA:1052 |
Dyskeratosis Congenita, Digenic |
|
Decreased circulating IgA level, Decreased circulating IgG level, Abnormal palmar dermatoglyphics... |
OMIM:620040 |
Retinitis Pigmentosa 62 |
|
Optic disc pallor, Rod-cone dystrophy |
OMIM:614181 |
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex |
|
Oral mucosal blisters, Hypopigmentation of the skin, Abnormal fingernail morphology, Palmoplantar... |
ORPHA:89838 |
Xeroderma Pigmentosum, Variant Type |
|
Squamous cell carcinoma, Basal cell carcinoma, Cutaneous melanoma |
OMIM:278750 |
Hirschsprung Disease |
|
Intestinal obstruction, Intestinal polyposis, Functional abnormality of the gastrointestinal trac... |
ORPHA:388 |
Hyperleucine-Isoleucinemia |
|
Retinal degeneration |
OMIM:238340 |
Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Flexion contracture, Alopecia, Abnormal esophagus morphology, Squamous cell carcinoma, Spontaneou... |
OMIM:226600 |
Familial Exudative Vitreoretinopathy |
|
Vitreous hemorrhage, Microphthalmia, Rhegmatogenous retinal detachment, Peripheral retinal avascu... |
ORPHA:891 |
Deafness, Congenital, With Onychodystrophy, Autosomal Dominant |
|
Absent thumbnail, Brachydactyly, Triphalangeal thumb, Conical tooth, Absent toenail, Nail dystrop... |
OMIM:124480 |
Craniotelencephalic Dysplasia |
|
Microcephaly, Cerebellar hypoplasia, Arrhinencephaly, Optic atrophy, Septo-optic dysplasia, Micro... |
ORPHA:1528 |
Pachyonychia Congenita |
|
Palmoplantar hyperhidrosis, Palmoplantar blistering, Palmar hyperkeratosis, Alopecia, Paronychia,... |
ORPHA:2309 |
Yellow Nail Syndrome |
|
Neoplasm, Yellow nails, Renal neoplasm, Neoplasm of the lung, Pleuritis, Biliary tract neoplasm, ... |
ORPHA:662 |
Breast-Ovarian Cancer, Familial, Susceptibility To, 3 |
|
Ovarian carcinoma, Breast carcinoma |
OMIM:613399 |
Breast-Ovarian Cancer, Familial, Susceptibility To, 1 |
|
Ovarian neoplasm, Breast carcinoma |
OMIM:604370 |
Breast-Ovarian Cancer, Familial, Susceptibility To, 2 |
|
Ovarian neoplasm, Breast carcinoma |
OMIM:612555 |
Muir-Torre Syndrome |
|
Malignant genitourinary tract tumor, Neoplasm of the liver, Salivary gland neoplasm, Renal neopla... |
ORPHA:587 |
Optic Atrophy 3, Autosomal Dominant |
|
Optic atrophy, Optic disc pallor |
OMIM:165300 |
Chromosomal Instability With Tissue-Specific Radiosensitivity |
|
Neoplasm, Abnormality of chromosome stability |
OMIM:215510 |
Retinitis Pigmentosa 26 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Rod-cone dystrophy |
OMIM:608380 |
Pachyonychia Congenita 2 |
|
Nail dysplasia, Palmoplantar hyperhidrosis, Sparse scalp hair, Sparse eyebrow, Subungual hyperker... |
OMIM:167210 |
Thrombocytopenia, Cyclic |
|
Cyclic neutropenia, Thrombocytopenia, Neutropenia |
OMIM:188020 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Increased circulating ferritin concentration, Colitis, Hepatomegaly, Folliculitis, Hemophagocytos... |
OMIM:300635 |
Familial Pancreatic Carcinoma |
|
Neoplasm of the liver, Exocrine pancreatic insufficiency, Extrahepatic cholestasis, Breast carcin... |
ORPHA:1333 |
Cone Dystrophy, X-Linked, With Tapetal-Like Sheen |
|
Retinal detachment, Cone dystrophy, Cone/cone-rod dystrophy |
OMIM:304030 |
X-Linked Intellectual Disability, Najm Type |
|
Cerebral cortical atrophy, Optic nerve hypoplasia, Microcephaly, Cerebellar hypoplasia, Optic atr... |
ORPHA:163937 |
Self-Improving Dystrophic Epidermolysis Bullosa |
|
Abnormality of the subungual region, Oral mucosal blisters, Anonychia, Carious teeth, Abnormality... |
ORPHA:79411 |
Hereditary Acrokeratotic Poikiloderma |
|
Abnormality of the dentition, Abnormal pigmentation of the oral mucosa, Ankyloglossia, Irregular ... |
ORPHA:2907 |
Autoimmune Lymphoproliferative Syndrome |
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Abnormal proportion of CD8-positive T cells, Hepatomegaly, Gastritis, Non-Hodgkin lymphoma, Hyper... |
ORPHA:3261 |
Isolated Congenital Digital Clubbing |
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Nail dysplasia, Hyperconvex nail, Broad finger, Broad fingertip, Clubbing of toes, Broad thumb, B... |
ORPHA:217059 |
Dyskeratosis Congenita |
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Hepatomegaly, Sparse hair, Alopecia, Abnormality of the dentition, Tracheoesophageal fistula, Car... |
ORPHA:1775 |
Retinitis Pigmentosa 32 |
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Photoreceptor layer loss on macular OCT, Retinal degeneration, Attenuation of retinal blood vesse... |
OMIM:609913 |
Fanconi Anemia, Complementation Group D1 |
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T-cell acute lymphoblastic leukemias, Anal atresia, Acute myeloid leukemia |
OMIM:605724 |
Insulinoma Tumor Suppressor Gene Locus |
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Insulinoma |
OMIM:606960 |
Rothmund-Thomson Syndrome Type 1 |
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Sparse hair, Anemia, Aplasia/Hypoplasia of the eyebrow, Melanoma, Sparse or absent eyelashes, Apl... |
ORPHA:221008 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
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Optic atrophy, Abnormality of retinal pigmentation, Microphthalmia |
ORPHA:1574 |
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome |
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Arteriovenous malformation, Lymphangioma, Ovarian neoplasm, Neoplasm of the breast, Hamartoma, Ne... |
ORPHA:137608 |
Exudative Vitreoretinopathy 2, X-Linked |
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Exudative vitreoretinopathy, Microphthalmia, Peripheral retinal avascularization, Falciform retin... |
OMIM:305390 |
Ceroid Lipofuscinosis, Neuronal, 11 |
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Optic atrophy, Retinal dystrophy |
OMIM:614706 |
Immunodeficiency, Common Variable, 13 |
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Acute lymphoblastic leukemia, B lymphocytopenia, Pancytopenia |
OMIM:616873 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
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Anisocytosis, Leukopenia, Multiple lineage myelodysplasia, Macrocytic anemia, Erythroid hypoplasi... |
ORPHA:86841 |
Chromosome 19P13.13 Deletion Syndrome |
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Optic atrophy, Optic nerve hypoplasia, Microcephaly |
OMIM:613638 |
Asbestos Intoxication |
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Interlobular septal thickening, Lung adenocarcinoma, Pleural thickening, Subpleural honeycombing,... |
ORPHA:2302 |
Osteopetrosis, Autosomal Dominant 2 |
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Recurrent fractures, Mandibular osteomyelitis, Osteopetrosis, Fractures of the long bones, Hip os... |
OMIM:166600 |
Bleeding Disorder, Platelet-Type, 9 |
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Thrombocytopenia |
OMIM:614200 |
Hemochromatosis, Type 2B |
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Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Hepatic fibrosis, Hypogonad... |
OMIM:613313 |
Rothmund-Thomson Syndrome Type 2 |
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High palate, Sparse hair, Cleft palate, Anemia, Aplasia/Hypoplasia of the eyebrow, Melanoma, Spar... |
ORPHA:221016 |
Optic Atrophy 6 |
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Optic atrophy |
OMIM:258500 |
Dyskeratosis Congenita, X-Linked |
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Alopecia, Carious teeth, Pancytopenia, Bone marrow hypocellularity, Reticulated skin pigmentation... |
OMIM:305000 |
Uncombable Hair Syndrome |
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Woolly hair, Patchy alopecia, Coarse hair, Trichodysplasia, Abnormal hair morphology, White hair |
ORPHA:1410 |
Storage Pool Platelet Disease |
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Myelodysplasia, Acute leukemia, Decreased mean platelet volume |
OMIM:185050 |
5Q14.3 Microdeletion Syndrome |
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Optic nerve hypoplasia, Frontal cortical atrophy, Hypoplasia of the corpus callosum, Agenesis of ... |
ORPHA:228384 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
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Squamous cell carcinoma of the skin, Verrucae, Lymphopenia, T lymphocytopenia |
OMIM:618309 |
Interstitial Lung Disease 2 |
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Alveolar cell carcinoma, Increased circulating antibody level, Cirrhosis, Cough, Decreased DLCO, ... |
OMIM:178500 |
Retinitis Pigmentosa 11 |
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Perifoveal ring of hyperautofluorescence, Rod-cone dystrophy, Macular degeneration, Macular edema... |
OMIM:600138 |
Tietz Syndrome |
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Hypopigmentation of the skin, White eyebrow, Hypopigmentation of hair, Abnormality of skin pigmen... |
ORPHA:42665 |
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1 |
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Premature graying of hair, Cirrhosis, Crackles, Mediastinal lymphadenopathy, Myeloid leukemia, Re... |
OMIM:614742 |
Ovarian Fibrothecoma |
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Diffuse leiomyomatosis, Hirsutism, Fibrosarcoma, Peritonitis, Pleural effusion, Ovarian fibroma, ... |
ORPHA:314478 |
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
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Optic nerve hypoplasia, Microcephaly, Hypoplasia of the pons, Agenesis of corpus callosum, Dandy-... |
OMIM:618736 |
Monosomy 9Q22.3 |
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Medulloblastoma, Odontogenic keratocysts of the jaw, Nephroblastoma, Rhabdomyosarcoma, Basal cell... |
ORPHA:77301 |
Mantle Cell Lymphoma |
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B-cell lymphoma, Weight loss, Abnormality of the gastrointestinal tract |
ORPHA:52416 |
Pontocerebellar Hypoplasia, Type 15 |
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Hypertonia, Hydrocephalus, Cerebellar hypoplasia, Chronic neutropenia, Spastic tetraplegia, Anemi... |
OMIM:619302 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
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Optic disc pallor, Peripapillary atrophy, Macular degeneration |
OMIM:618195 |
Ataxia-Pancytopenia Syndrome |
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Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal platelet function, Apla... |
ORPHA:2585 |
Lattice Degeneration Of Retina Leading To Retinal Detachment |
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Retinal detachment, Lattice retinal degeneration |
OMIM:150500 |
Beta-Thalassemia |
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Cholelithiasis, Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Pallor, Thrombocytopenia, Hepati... |
ORPHA:848 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
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Retinal degeneration, Microphthalmia |
OMIM:251700 |
Hepatorenocardiac Degenerative Fibrosis |
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Cirrhosis, Hepatosplenomegaly, Hepatocellular carcinoma, Elevated hepatic transaminase, Hepatic b... |
OMIM:619902 |
Autoimmune Lymphoproliferative Syndrome |
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Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Hepatomega... |
OMIM:601859 |
Retinitis Pigmentosa 28 |
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Bone spicule pigmentation of the retina, Optic disc pallor, Rod-cone dystrophy |
OMIM:606068 |
X-Linked Sideroblastic Anemia |
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Pallor, Anemia, Splenomegaly |
ORPHA:75563 |
Congenital Bile Acid Synthesis Defect Type 1 |
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Malabsorption, Hepatomegaly, Splenomegaly, Cirrhosis, Biliary tract abnormality, Elevated hepatic... |
ORPHA:79301 |
X-Linked Lymphoproliferative Disease |
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Increased circulating ferritin concentration, Hemophagocytosis, Hepatic failure, Cervical lymphad... |
ORPHA:2442 |
Peripheral Primitive Neuroectodermal Tumor |
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Neoplasm of the pancreas, Torticollis, Ovarian neoplasm, Peripheral primitive neuroectodermal neo... |
ORPHA:370348 |
Birdshot Chorioretinopathy |
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Photoreceptor layer loss on macular OCT, Abnormal retinal vascular morphology, Macular hole, Cyst... |
ORPHA:179 |
Nk-Cell Enteropathy |
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Abnormal gastric mucosa morphology, Gastroesophageal reflux, Intestinal polyp, Lymphoproliferativ... |
ORPHA:263665 |
Bone Marrow Failure Syndrome 2 |
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Anemia, Bone marrow hypocellularity, Leukopenia, Thrombocytopenia |
OMIM:615715 |
Baller-Gerold Syndrome |
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High palate, Anal atresia, Malabsorption, Cleft palate, Lymphoma, Osteosarcoma, Anteriorly placed... |
ORPHA:1225 |
Pachyonychia Congenita 1 |
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Nail dystrophy, Oral leukoplakia, Onychogryposis, Palmoplantar hyperkeratosis |
OMIM:167200 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
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Leukemia, Meningioma, Nephroblastoma |
OMIM:602501 |
Optic Atrophy 12 |
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Optic atrophy, Optic disc pallor |
OMIM:618977 |
Leishmaniasis |
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Increased circulating antibody level, Hepatomegaly, Splenomegaly, Pallor, Leukopenia, Abnormal ma... |
ORPHA:507 |
Retinoschisis 1, X-Linked, Juvenile |
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Vitreous hemorrhage, Retinal degeneration, Retinal detachment, Retinal pigment epithelial atrophy... |
OMIM:312700 |
Syndromic Recessive X-Linked Ichthyosis |
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Acute leukemia, Cryptorchidism, Testicular seminoma, Abnormal stomach morphology |
ORPHA:281090 |
Pierre Robin Sequence With Facial And Digital Anomalies |
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