Reticulum Cell Sarcoma |
|
Neoplasm, Sarcoma |
OMIM:267730 |
Lymphoblastic Leukemia, Acute, With Lymphomatous Features |
|
Lymphoma, Acute lymphoblastic leukemia, T-cell acute lymphoblastic leukemias |
OMIM:247640 |
Juvenile Myelomonocytic Leukemia |
|
Juvenile myelomonocytic leukemia |
OMIM:607785 |
Myofibromatosis, Infantile, 1 |
|
Fibroma, Myofibromatosis |
OMIM:228550 |
Myeloproliferative Syndrome, Transient |
|
Transient myeloproliferative syndrome, Leukocytosis |
OMIM:159595 |
Li-Fraumeni Syndrome 2 |
|
Glioma, Meningioma, Breast carcinoma, Stomach cancer, Sarcoma |
OMIM:609265 |
Melanoma-Pancreatic Cancer Syndrome |
|
Melanoma, Pancreatic squamous cell carcinoma, Oropharyngeal squamous cell carcinoma, Pancreatic a... |
OMIM:606719 |
Enchondromatosis, Multiple, Ollier Type |
|
Hemangioma, Chondrosarcoma, Multiple enchondromatosis |
OMIM:166000 |
Li-Fraumeni Syndrome |
|
Choriocarcinoma, Colon cancer, Neoplasm of the pancreas, Prostate cancer, Breast carcinoma, Osteo... |
OMIM:151623 |
Ewing Sarcoma |
|
Ewing sarcoma |
OMIM:612219 |
Chondrosarcoma |
|
Chondrosarcoma |
OMIM:215300 |
Chondrosarcoma, Extraskeletal Myxoid |
|
Chondrosarcoma |
OMIM:612237 |
Cramps, Familial Adolescent |
|
Elevated circulating creatine kinase concentration |
OMIM:218050 |
Muscle Cramps, Familial |
|
Elevated circulating creatine kinase concentration |
OMIM:158400 |
Li-Fraumeni Syndrome |
|
Acute lymphoblastic leukemia, Colorectal polyposis, Astrocytoma, Neoplasm of the central nervous ... |
ORPHA:524 |
Myeloproliferative Disorder, Chronic, With Eosinophilia |
|
Myeloproliferative disorder, Malignant eosinophil proliferation, Eosinophilia |
OMIM:131440 |
Colorectal Cancer, Susceptibility To, 12 |
|
Colorectal polyposis, Carcinoma |
OMIM:615083 |
Retinal Dysplasia, Primary |
|
Falciform retinal fold, Retinal dysplasia |
OMIM:312550 |
Multiple Fibroadenomas Of The Breast |
|
Fibroadenoma of the breast |
OMIM:615554 |
Epidermodysplasia Verruciformis, Susceptibility To, 3 |
|
Squamous cell carcinoma, Verrucae, Basal cell carcinoma |
OMIM:618267 |
Desmoid Disease, Hereditary |
|
Breast carcinoma, Desmoid tumors, Colon cancer, Colorectal polyposis |
OMIM:135290 |
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 |
Multiple Enchondromatosis, Maffucci Type |
|
Hemangioma, Chondrosarcoma, Multiple enchondromatosis |
OMIM:614569 |
Squamous Cell Carcinoma, Head And Neck |
|
Squamous cell carcinoma |
OMIM:275355 |
Glioma Susceptibility 9 |
|
Renal neoplasm, Glioma, Leukemia, Neoplasm of the lung, Astrocytoma |
OMIM:616568 |
Leber Hereditary Optic Neuropathy, Modifier Of |
|
Optic atrophy, Leber optic atrophy |
OMIM:308905 |
Macroglobulinemia, Waldenstrom, Susceptibility To, 1 |
|
Leukemia, Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M... |
OMIM:153600 |
Birt-Hogg-Dube Syndrome |
|
Cutaneous leiomyoma, Renal neoplasm, Renal cell carcinoma, Trichodiscoma, Colon cancer, Multiple ... |
OMIM:135150 |
Serrated Polyposis Syndrome |
|
Melanoma, Prostate cancer, Breast carcinoma, Biliary tract neoplasm, Bladder carcinoma, Colorecta... |
ORPHA:157798 |
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 |
Tumor Predisposition Syndrome 1 |
|
Renal cell carcinoma, Cutaneous melanoma, Meningioma, Malignant mesothelioma, Uveal melanoma, Lun... |
OMIM:614327 |
Retinitis Pigmentosa 42 |
|
Rod-cone dystrophy, Peripapillary atrophy, Perifoveal ring of hyperautofluorescence, Cystoid macu... |
OMIM:612943 |
Disseminated Superficial Actinic Porokeratosis |
|
Squamous cell carcinoma |
ORPHA:79152 |
Nut Midline Carcinoma |
|
Neoplasm, Ewing sarcoma, Pancreatic squamous cell carcinoma, Leukemia, Oropharyngeal squamous cel... |
ORPHA:443167 |
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Neutropenia, Acute myeloid leukemia |
OMIM:607847 |
Undifferentiated Pleomorphic Sarcoma |
|
Abnormality of the peritoneum, Soft tissue sarcoma |
ORPHA:2023 |
Prostate Cancer/Brain Cancer Susceptibility |
|
Prostate cancer, Neoplasm of the central nervous system |
OMIM:603688 |
Large Congenital Melanocytic Nevus |
|
Neoplasm, Cutaneous melanoma, Neoplasm of the skin, Generalized hirsutism, Rhabdomyosarcoma, Sarcoma |
ORPHA:626 |
Fibromatosis, Gingival, 1 |
|
Gingival fibromatosis |
OMIM:135300 |
Cheilitis Glandularis |
|
Squamous cell carcinoma, Neoplasm |
ORPHA:1221 |
Schwannomatosis 2 |
|
Spinal cord tumor, Schwannoma |
OMIM:615670 |
Infantile Myofibromatosis |
|
Abnormal intestine morphology, Neoplasm of the pancreas, Neoplasm of the lung, Gingival fibromato... |
ORPHA:2591 |
Fraxf Syndrome |
|
Folate-dependent fragile site at Xq28 |
ORPHA:100974 |
Oslam Syndrome |
|
Neoplasm, Osteosarcoma |
OMIM:165660 |
Griscelli Syndrome, Type 3 |
|
White eyelashes, Large clumps of pigment irregularly distributed along hair shaft, Silver-gray hair |
OMIM:609227 |
Adrenocortical Carcinoma, Hereditary |
|
Choroid plexus carcinoma, Adrenocortical carcinoma |
OMIM:202300 |
Hereditary Gingival Fibromatosis |
|
Gingival fibromatosis |
ORPHA:2024 |
Erythroleukemia, Familial, Susceptibility To |
|
Anemia, Leukemia, Splenomegaly, Thrombocytopenia, Erythroid hyperplasia, Refractory anemia with r... |
OMIM:133180 |
Hereditary Breast And/Or Ovarian Cancer Syndrome |
|
Melanoma, Neoplasm of the pancreas, Prostate cancer, Breast carcinoma, Primary peritoneal carcino... |
ORPHA:145 |
Breast Cancer |
|
Breast carcinoma |
OMIM:114480 |
Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer |
|
Adenomatous colonic polyposis, Colon cancer, Acute myeloid leukemia |
OMIM:246470 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Hemophagocytosis, Acute lymphoblastic leukemia, Nephroblastoma, Acute myeloid leukemia, Hepatospl... |
ORPHA:158057 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Increased mean corpuscular volume, Thrombocytopenia, Myelodysplasia, Acute myeloid leukemia |
OMIM:252270 |
Mismatch Repair Cancer Syndrome 1 |
|
Glioblastoma multiforme, Adenocarcinoma of the small intestine, Leukemia, Non-Hodgkin lymphoma, A... |
OMIM:276300 |
Retinitis Pigmentosa 36 |
|
Macular degeneration, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of ... |
OMIM:610599 |
Meningioma, Familial, Susceptibility To |
|
Meningioma |
OMIM:607174 |
Familial Melanoma |
|
Melanoma, Neoplasm of the pancreas, Neoplasm of the stomach, Neoplasm of the breast, Abnormal hai... |
ORPHA:618 |
Auditory Neuropathy And Optic Atrophy |
|
Optic atrophy, Rod-cone dystrophy |
OMIM:617717 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6 |
|
Oral leukoplakia, Premature graying of hair, Reticular hyperpigmentation, Bone marrow hypocellula... |
OMIM:619767 |
Fibromatosis, Gingival, With Progressive Deafness |
|
Gingival fibromatosis |
OMIM:135550 |
Testicular Germ Cell Tumor |
|
Choriocarcinoma, Embryonal neoplasm, Teratoma |
OMIM:273300 |
Leukemia, Chronic Lymphocytic |
|
Chronic lymphatic leukemia |
OMIM:151400 |
Leukemia, Chronic Lymphocytic, Susceptibility To, 2 |
|
Chronic lymphatic leukemia |
OMIM:109543 |
Hemoglobin D Disease |
|
Abnormal hemoglobin, Anemia, Decreased mean corpuscular volume, HbS hemoglobin, Decreased mean co... |
ORPHA:90039 |
Mismatch Repair Cancer Syndrome 2 |
|
Glioblastoma multiforme, Colon cancer, T-cell acute lymphoblastic leukemias |
OMIM:619096 |
Pancreatic Cancer, Susceptibility To, 5 |
|
Pancreatic adenocarcinoma, Melanoma |
OMIM:618680 |
Leber Congenital Amaurosis 13 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... |
OMIM:612712 |
Nthl1-Related Attenuated Familial Adenomatous Polyposis |
|
Bladder neoplasm, Neoplasm of the rectum, Seborrheic keratosis, Colon cancer, Meningioma, Breast ... |
ORPHA:454840 |
Subependymoma |
|
Supratentorial neoplasm, Neoplasm of the liver, Neoplasm of the lung, Spinal cord tumor, Neoplasm... |
ORPHA:251639 |
Ependymoma |
|
Supratentorial neoplasm, Neoplasm of the liver, Neoplasm of the lung, Spinal cord tumor, Neoplasm... |
ORPHA:251636 |
Apc-Related Attenuated Familial Adenomatous Polyposis |
|
Adrenocortical adenoma, Astrocytoma, Pilomatrixoma, Papillary thyroid carcinoma, Odontoma, Adenom... |
ORPHA:247806 |
Bone Marrow Failure Syndrome 5 |
|
Oral leukoplakia, Testicular atrophy, Hypogonadism, Pure red cell aplasia, Anemia, Reticular hype... |
OMIM:618165 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Anemia, Persistence of hemoglobin F, Hepatomegaly, Splenomegaly, Pallor |
ORPHA:46532 |
Desmoid Tumor |
|
Malabsorption, Intestinal obstruction, Fibroma, Gastrointestinal hemorrhage, Neoplasm of the skin... |
ORPHA:873 |
Lung Cancer |
|
Alveolar cell carcinoma, Non-small cell lung carcinoma, Lung adenocarcinoma |
OMIM:211980 |
Rhabdomyosarcoma, Embryonal, 2 |
|
Ovarian thecoma, Goiter, Embryonal rhabdomyosarcoma, Pleuropulmonary blastoma, Multinodular goite... |
OMIM:180295 |
Papilloma Of Choroid Plexus |
|
Choroid plexus papilloma, Osteosarcoma |
OMIM:260500 |
Pleuropulmonary Blastoma |
|
Rhabdomyosarcoma, Medulloblastoma, Pleuropulmonary blastoma |
OMIM:601200 |
Dermatofibrosarcoma Protuberans |
|
Fibrosarcoma, Neoplasm of the skin |
ORPHA:31112 |
Fibromatosis, Gingival, 5 |
|
Gingival fibromatosis |
OMIM:617626 |
Optic Atrophy 2 |
|
Optic atrophy |
OMIM:311050 |
Gonadoblastoma |
|
Gonadoblastoma |
OMIM:424500 |
Cutaneous Neuroendocrine Carcinoma |
|
Merkel cell skin cancer, Squamous cell carcinoma of the skin, Brain neoplasm, Multiple myeloma, N... |
ORPHA:79140 |
Optic Atrophy--Spastic Paraplegia Syndrome |
|
Optic atrophy |
OMIM:311100 |
Testicular Germ Cell Tumor 1 |
|
Germ cell neoplasia |
OMIM:300228 |
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Dominant |
|
Optic atrophy |
OMIM:165199 |
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease |
|
Recurrent cutaneous abscess formation, Squamous cell carcinoma |
OMIM:613736 |
Schöpf-Schulz-Passarge Syndrome |
|
Alopecia, Basal cell carcinoma, Sparse hair, Ovarian neoplasm, Squamous cell carcinoma, Aplasia/H... |
ORPHA:50944 |
Familial Multinodular Goiter |
|
Renal cell carcinoma, Pleuropulmonary blastoma, Testicular seminoma, Multinodular goiter, Colorec... |
ORPHA:276399 |
Glioma Susceptibility 3 |
|
Acute myeloid leukemia, Glioblastoma multiforme, Astrocytoma, B Acute Lymphoblastic Leukemia, Nep... |
OMIM:613029 |
Hyperkeratosis Lenticularis Perstans |
|
Squamous cell carcinoma, Basal cell carcinoma |
ORPHA:409 |
Premature Aging Syndrome, Okamoto Type |
|
Abnormal hair morphology, Neoplasm, Osteosarcoma |
OMIM:601811 |
Hereditary Leiomyomatosis And Renal Cell Cancer |
|
Cutaneous leiomyoma, Renal cell carcinoma, Multiple cutaneous leiomyomas, Uterine leiomyoma, Cuta... |
OMIM:150800 |
Desmoplastic Small Round Cell Tumor |
|
Abnormality of the peritoneum, Ileus, Anemia, Neoplasm of the pancreas, Neoplasm of the lung, Hep... |
ORPHA:83469 |
Schwannomatosis 1 |
|
Meningioma, Spinal cord tumor, Peripheral schwannoma, Vestibular schwannoma |
OMIM:162091 |
Colorectal Cancer |
|
Renal cell carcinoma, Neoplasm of the stomach, Uterine leiomyosarcoma, Hereditary nonpolyposis co... |
OMIM:114500 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Oral leukoplakia, Reticulated skin pigmentation, Abnormality of the dentition, Nail dysplasia, Le... |
OMIM:613989 |
Gestational Choriocarcinoma |
|
Choriocarcinoma, Neoplasm, Trophoblastic tumor |
ORPHA:99926 |
Pentosuria |
|
Abnormality of circulating enzyme level, Abnormal circulating carbohydrate concentration |
ORPHA:2843 |
Gardner Syndrome |
|
Adrenocortical adenoma, Astrocytoma, Pilomatrixoma, Papillary thyroid carcinoma, Odontoma, Adenom... |
ORPHA:79665 |
Optic Atrophy 13 With Retinal And Foveal Abnormalities |
|
Optic atrophy, Attenuation of retinal blood vessels |
OMIM:165510 |
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness |
|
Optic atrophy |
OMIM:136600 |
Chromosome 5Q Deletion Syndrome |
|
Erythroid hypoplasia, Refractory macrocytic anemia, Anemia of inadequate production, Myelodysplasia |
OMIM:153550 |
Oslam Syndrome |
|
Increased mean corpuscular volume, Abnormality of neutrophils, Osteosarcoma |
ORPHA:2760 |
Attenuated Familial Adenomatous Polyposis |
|
Papilloma, Colorectal polyposis, Duodenal polyposis, Astrocytoma, Neoplasm of the stomach, Fibrom... |
ORPHA:220460 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Recurrent respiratory infections, Verrucae, Anal canal squamous carcinoma, B lymphocytopenia, Pne... |
ORPHA:217390 |
Familial Adenomatous Polyposis 3 |
|
Bladder neoplasm, Colon cancer, Meningioma, Prostate cancer, Breast carcinoma, Pancreatic adenoca... |
OMIM:616415 |
Junctional Epidermolysis Bullosa Inversa |
|
Gastrointestinal inflammation, Cutaneous melanoma, Anemia, Basal cell carcinoma, Nail dystrophy, ... |
ORPHA:79405 |
Optic Nerve Hypoplasia, Bilateral |
|
Remnants of the hyaloid vascular system, Optic nerve aplasia, Optic nerve hypoplasia, Morning glo... |
OMIM:165550 |
Acquired Ichthyosis |
|
Sarcoma, Neoplasm, Multiple myeloma, Lymphoma |
ORPHA:454 |
Polymerase Proofreading-Related Adenomatous Polyposis |
|
Neoplasm of the rectum, Brain neoplasm, Breast carcinoma, Colorectal polyposis, Adenomatous colon... |
ORPHA:447877 |
Thrombocytopenia 2 |
|
Thrombocytopenia, Leukocytosis |
OMIM:188000 |
Mismatch Repair Cancer Syndrome 4 |
|
Colon cancer, Non-Hodgkin lymphoma, Astrocytoma, Adenomatous colonic polyposis, Glioblastoma mult... |
OMIM:619101 |
Stargardt Disease 1 |
|
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy |
OMIM:248200 |
Mutyh-Related Attenuated Familial Adenomatous Polyposis |
|
Colorectal polyposis, Desmoid tumors, Large intestinal polyposis, Adenomatous colonic polyposis, ... |
ORPHA:247798 |
Peutz-Jeghers Syndrome |
|
Rectal prolapse, Cervix cancer, Neoplasm of the rectum, Neoplasm, Neoplasm of the lung, Pancreati... |
ORPHA:2869 |
Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Oral leukoplakia, Aplastic anemia, Reticular hyperpigmentation, Bone marrow hypocellularity, Esop... |
OMIM:224230 |
Bornholm Eye Disease |
|
Optic nerve hypoplasia, Abnormality of retinal pigmentation |
OMIM:300843 |
Oncogenic Osteomalacia |
|
Giant cell tumor of bone, Carcinoma, Hypophosphatemia, Neoplasm of head and neck, Hypocalcemia, O... |
ORPHA:352540 |
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole |
|
Reticular pigmentary degeneration, Drusen, Retinal dystrophy |
OMIM:267800 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Oral leukoplakia, Reticulated skin pigmentation, Testicular atrophy, Bone marrow hypocellularity,... |
OMIM:613987 |
Obsolete: Isolated Optic Nerve Hypoplasia/Aplasia |
|
Optic disc hypoplasia, Peripheral vitreous opacities, Optic nerve hypoplasia, Unilateral micropht... |
ORPHA:137902 |
Maffucci Syndrome |
|
Goiter, Neoplasm of the parathyroid gland, Neoplasm of the adrenal cortex, Hemangiomatosis, Breas... |
ORPHA:163634 |
Leber Congenital Amaurosis 19 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Retinal degeneration |
OMIM:618513 |
Microphthalmia, Isolated 8 |
|
Retinal detachment, Microphthalmia, Retinal coloboma, Optic nerve hypoplasia, True anophthalmia, ... |
OMIM:615113 |
Osteogenic Sarcoma |
|
Retinoblastoma, Osteosarcoma |
OMIM:259500 |
Glaucoma 1, Open Angle, P |
|
Increased cup-to-disc ratio |
OMIM:177700 |
Schopf-Schulz-Passarge Syndrome |
|
Poroma, Sparse body hair, Basal cell carcinoma, Apocrine hidrocystoma, Nail dystrophy, Sparse hai... |
OMIM:224750 |
Late-Onset Junctional Epidermolysis Bullosa |
|
Gastrointestinal inflammation, Cutaneous melanoma, Anemia, Basal cell carcinoma, Nail dystrophy, ... |
ORPHA:79406 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hemophagocytosis, Fulminant hepatitis, Reduced natural killer cell activity, Hepatomegaly, Increa... |
OMIM:308240 |
Refractory Anemia |
|
Single lineage myelodysplasia, Normocytic anemia, Bone marrow hypocellularity, Myelodysplasia, An... |
ORPHA:98826 |
Xeroderma Pigmentosum Variant |
|
Squamous cell carcinoma, Melanoma, Basal cell carcinoma |
ORPHA:90342 |
Anemia, Sideroblastic, 4 |
|
Sideroblastic anemia, Refractory anemia with ringed sideroblasts, Abnormal erythrocyte morphology |
OMIM:182170 |
Paget Disease Of Bone 3 |
|
Osteosarcoma |
OMIM:167250 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Carious teeth, Cerebellar hypoplasia, Nail dystrophy, Sparse hair, Hepatic necrosis, Oral leukopl... |
OMIM:127550 |
Axin2-Related Attenuated Familial Adenomatous Polyposis |
|
Neoplasm of the rectum, Colon cancer, Colorectal polyposis, Adenomatous colonic polyposis, Sparse... |
ORPHA:401911 |
Milroy Disease |
|
Angiosarcoma, Hydrocele testis, Neoplasm of the skin |
ORPHA:79452 |
Dyskeratosis Congenita, Autosomal Recessive 3 |
|
Oral leukoplakia, Bone marrow hypocellularity, Pancytopenia, Nail dystrophy, Squamous cell carcin... |
OMIM:613988 |
Polyposis Syndrome, Hereditary Mixed, 2 |
|
Hyperplastic colonic polyposis, Colon cancer, Adenomatous colonic polyposis, Juvenile colonic pol... |
OMIM:610069 |
Pancreatic Cancer |
|
Neoplasm of the pancreas |
OMIM:260350 |
Glioma Susceptibility 1 |
|
Ependymoma, Glioblastoma multiforme, Astrocytoma |
OMIM:137800 |
Chromosome 14Q32 Duplication Syndrome, 700-Kb |
|
Acute myeloid leukemia, Chronic myelomonocytic leukemia |
OMIM:616604 |
Progressive Osseous Heteroplasia |
|
Abnormality of the parathyroid gland, Sarcoma |
ORPHA:2762 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Anisocytosis, Leukopenia, Abnormal erythrocyte morphology, Bone marrow hypocellularity, Myelodysp... |
ORPHA:86841 |
Optic Atrophy 9 |
|
Optic atrophy, Optic disc pallor |
OMIM:616289 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Renal cortical adenoma, Parathyroid carcinoma, Recurrent pancreatitis, Papillary renal cell carci... |
OMIM:145001 |
Punctate Palmoplantar Keratoderma Type 1 |
|
Adenocarcinoma of the colon, Renal cell carcinoma, Melanoma, Adenocarcinoma of the small intestin... |
ORPHA:79501 |
Retinoblastoma |
|
Lymphoma, Melanoma, Ewing sarcoma, Glioma, Leukemia, Pineoblastoma, Cleft palate, Leiomyosarcoma,... |
ORPHA:790 |
Self-Improving Dystrophic Epidermolysis Bullosa |
|
Gastrointestinal inflammation, Cutaneous melanoma, Anemia, Basal cell carcinoma, Nail dystrophy, ... |
ORPHA:79411 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Myopathy, Premature graying of hair, Skeletal muscle atrophy, Histiocytoma, Osteosarcoma, Fibrosa... |
OMIM:112250 |
Polyposis, Intestinal, With Multiple Exostoses |
|
Multiple exostoses, Intestinal polyposis |
OMIM:175450 |
Dyskeratosis Congenita, Autosomal Dominant 6 |
|
Oral leukoplakia, Abnormality of the dentition, Aplastic anemia, Esophageal stenosis, Bone marrow... |
OMIM:616553 |
Rhabdomyosarcoma, Embryonal, 1 |
|
Embryonal rhabdomyosarcoma |
OMIM:268210 |
Ollier Disease |
|
Hemangioma, Neoplasm, Anemia, Visceral angiomatosis, Multiple enchondromatosis, Chondrosarcoma, S... |
ORPHA:296 |
Rhabdomyosarcoma 2 |
|
Alveolar rhabdomyosarcoma |
OMIM:268220 |
Epidermodysplasia Verruciformis, Susceptibility To, 2 |
|
Verruca plana, Squamous cell carcinoma of the skin |
OMIM:618231 |
Fanconi Anemia, Complementation Group G |
|
Anemia, Leukemia, Myelodysplasia, Thrombocytopenia, Neutropenia |
OMIM:614082 |
Exostoses, Multiple, Type Ii |
|
Rib exostoses, Pelvic bone exostoses, Scapular exostoses, Multiple exostoses, Chondrosarcoma |
OMIM:133701 |
Exostoses, Multiple, Type I |
|
Rib exostoses, Pelvic bone exostoses, Scapular exostoses, Multiple exostoses, Chondrosarcoma |
OMIM:133700 |
Macular Degeneration, Age-Related, 13 |
|
Macular degeneration, Choroidal neovascularization, Drusen, Macular scar |
OMIM:615439 |
N Syndrome |
|
Leukemia, Neoplasm, Cryptorchidism |
OMIM:310465 |
Rhabdoid Tumor Predisposition Syndrome 1 |
|
Choroid plexus carcinoma, Medulloblastoma |
OMIM:609322 |
Carney Triad |
|
Adrenocortical adenoma, Anemia, Pheochromocytoma, Gastrointestinal stroma tumor, Leiomyosarcoma, ... |
ORPHA:139411 |
Myelocytic Leukemia-Like Syndrome, Familial, Chronic |
|
Chronic myelogenous leukemia |
OMIM:600080 |
Teratoma, Pineal |
|
Teratoma |
OMIM:273120 |
Retinitis Pigmentosa 48 |
|
Macular degeneration, Rod-cone dystrophy |
OMIM:613827 |
Mast Cell Sarcoma |
|
Mastocytosis, Hepatomegaly, Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly, Sarcoma |
ORPHA:66661 |
Dyskeratosis Congenita, Autosomal Recessive 6 |
|
Oral leukoplakia, Premature loss of teeth, Bone marrow hypocellularity, Alopecia, Carious teeth, ... |
OMIM:616353 |
Paraneoplastic Pemphigus |
|
Thymoma, B-cell lymphoma, Sarcoma |
ORPHA:63455 |
Hepatocellular Carcinoma |
|
Hepatocellular carcinoma, Subacute progressive viral hepatitis, Micronodular cirrhosis |
OMIM:114550 |
Ocular Pigment Dispersion With Or Without Glaucoma |
|
Optic atrophy |
OMIM:600510 |
Autoimmune Hemolytic Anemia, Cold Type |
|
Abnormal leukocyte morphology, Pallor, Hemolytic anemia, Splenomegaly |
ORPHA:228312 |
Retinitis Pigmentosa 71 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Perifoveal ring of hyperautofluorescence... |
OMIM:616394 |
Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Oral leukoplakia, Reticulated skin pigmentation, Nail dysplasia, Leukopenia, Aplastic anemia, Cry... |
OMIM:613990 |
Familial Colorectal Cancer Type X |
|
Malabsorption, Benign neoplasm of the central nervous system, Urinary tract neoplasm, Basal cell ... |
ORPHA:440437 |
Schnitzler Syndrome |
|
Vasculitis, Leukocytosis, Anemia, Skin rash, Hepatomegaly, Arthritis, Lymphadenopathy, Lymphoma, ... |
ORPHA:37748 |
Phakomatosis Pigmentokeratotica |
|
Hemangioma, Cryptorchidism, Cutaneous melanoma, Patchy alopecia, Renal transitional cell carcinom... |
ORPHA:2874 |
Alpha-1-Antitrypsin Deficiency |
|
Hepatocellular carcinoma, Dyspnea, Chronic pulmonary obstruction, Cough, Chronic bronchitis, Elev... |
OMIM:613490 |
Bazex Syndrome |
|
Neoplasm, Anemia, Yellow nails, Liposarcoma, Nail dystrophy, Lung adenocarcinoma |
ORPHA:166113 |
Necrobiosis Lipoidica |
|
Squamous cell carcinoma, Abnormality of neutrophil physiology, Granuloma |
ORPHA:542592 |
Epidermolysis Bullosa Simplex With Mottled Pigmentation |
|
Spotty hypopigmentation, Reticulated skin pigmentation, Hypomelanotic macule, Abnormality of the ... |
ORPHA:79397 |
Familial Adenomatous Polyposis |
|
Biliary tract obstruction, Adenocarcinoma of the small intestine, Colorectal polyposis, Astrocyto... |
ORPHA:733 |
Retinitis Pigmentosa 30 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... |
OMIM:607921 |
Monocyte Chemotactic Disorder |
|
Cutaneous anergy |
OMIM:252250 |
Ataxia-Pancytopenia Syndrome |
|
Distal sensory impairment, Unsteady gait, Ataxia, Anemia, Ankle clonus, Impaired vibration sensat... |
OMIM:159550 |
Retinal Degeneration And Epilepsy |
|
Retinal degeneration |
OMIM:267740 |
Hereditary Mixed Polyposis Syndrome |
|
Neoplasm of the rectum, Hyperplastic colonic polyposis, Juvenile colonic polyposis, Hematochezia,... |
ORPHA:157794 |
Leukemia, Chronic Myeloid |
|
Chronic myelogenous leukemia, Ph-positive acute lymphoblastic leukemia |
OMIM:608232 |
Hereditary Leiomyomatosis And Renal Cell Cancer |
|
Cutaneous leiomyoma, Multiple cutaneous leiomyomas, Papillary renal cell carcinoma type 2, Uterin... |
ORPHA:523 |
Fetal Cytomegalovirus Syndrome |
|
Hepatomegaly, Splenomegaly, Anemia |
ORPHA:294 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Retinal dysplasia |
OMIM:615041 |
Lynch Syndrome |
|
Hepatocellular carcinoma, Neoplasm of the rectum, Neoplasm of the thyroid gland, Flexion contract... |
ORPHA:144 |
Craniotelencephalic Dysplasia |
|
Microphthalmia, Optic nerve hypoplasia, Cerebellar hypoplasia, Arrhinencephaly, Agenesis of corpu... |
OMIM:218670 |
Retinitis Pigmentosa 33 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels,... |
OMIM:610359 |
Ganglioneuroma |
|
Multiple intestinal neurofibromatosis, Colorectal polyposis, Ganglioneuroma, Hamartomatous polypo... |
ORPHA:251992 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal platelet function, Abnormal hemoglobin, Anemia, Thrombocytopenia, Splenomegaly |
ORPHA:231393 |
Gastric Cancer |
|
Stomach cancer |
OMIM:613659 |
Intracranial Hypertension, Idiopathic |
|
Papilledema |
OMIM:243200 |
Carcinoma Of Esophagus |
|
Gastroesophageal reflux, Abnormal intestine morphology, Obesity, Dysphagia, Esophageal neoplasm, ... |
ORPHA:70482 |
Joubert Syndrome 40 |
|
Optic nerve hypoplasia |
OMIM:619582 |
Budd-Chiari Syndrome |
|
Hepatocellular carcinoma, Budd-Chiari syndrome, Cirrhosis |
OMIM:600880 |
Rhabdoid Tumor |
|
Renal neoplasm, Neoplasm of the liver, Anemia, Thrombocytopenia, Neoplasm of the central nervous ... |
ORPHA:69077 |
Retinitis Pigmentosa 57 |
|
Optic disc pallor, Cystoid macular edema, Bone spicule pigmentation of the retina, Attenuation of... |
OMIM:613582 |
Xeroderma Pigmentosum, Complementation Group F |
|
Seborrheic keratosis, Keratoacanthoma, Basal cell carcinoma, Neoplasm of the skin, Flexion contra... |
OMIM:278760 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Leukopenia, Extramedullary hematopoiesis, Anemia, Enlarged kidney, Increased circulating antibody... |
OMIM:615285 |
Aniridia-Intellectual Disability Syndrome |
|
Aniridia, Optic nerve hypoplasia |
ORPHA:1068 |
Hypereosinophilic Syndrome, Idiopathic |
|
Myeloproliferative disorder, Hepatomegaly, Splenomegaly, Eosinophilia |
OMIM:607685 |
Retinoblastoma |
|
Lymphoma, Pinealoma, Ewing sarcoma, Leukemia, Osteosarcoma, Retinoblastoma |
OMIM:180200 |
Pilomatrixoma |
|
Pilomatrixoma |
OMIM:132600 |
Lynch Syndrome 5 |
|
Neoplasm of the pancreas, Ovarian neoplasm, Endometrial carcinoma, Hereditary nonpolyposis colore... |
OMIM:614350 |
Gcgr-Related Hyperglucagonemia |
|
Neoplasm of the pancreas, Abnormal biliary tract morphology, Cholelithiasis, Zollinger-Ellison sy... |
ORPHA:438274 |
Polymicrogyria With Optic Nerve Hypoplasia |
|
Hypoplasia of the brainstem, Optic nerve hypoplasia, Agenesis of corpus callosum |
ORPHA:250972 |
Acquired Idiopathic Sideroblastic Anemia |
|
Hyposegmentation of neutrophil nuclei, Leukocytosis, Normocytic anemia, Hypochromic anemia, Bone ... |
ORPHA:75564 |
Pancreatic Cancer, Susceptibility To, 1 |
|
Pancreatic adenocarcinoma |
OMIM:606856 |
Liposarcoma |
|
Sarcoma |
ORPHA:69078 |
Acute Myelomonocytic Leukemia |
|
Leukocytosis, Anemia, Eosinophilia, Thrombocytopenia, Pallor |
ORPHA:517 |
Lymphedema, Primary, With Myelodysplasia |
|
Verrucae, Decreased CD4:CD8 ratio, Leukemia, Myelodysplasia, Pancytopenia, Acute myeloid leukemia |
OMIM:614038 |
Griscelli Syndrome, Type 1 |
|
Accumulation of melanosomes in melanocytes, Melanin pigment aggregation in hair shafts, Large clu... |
OMIM:214450 |
Foveal Hypoplasia-Presenile Cataract Syndrome |
|
Optic atrophy |
ORPHA:2253 |
Pancreatic Cancer, Susceptibility To, 2 |
|
Neoplasm of the pancreas |
OMIM:613347 |
Esophageal Cancer |
|
Esophageal carcinoma |
OMIM:133239 |
Fanconi Renotubular Syndrome 5 |
|
Hypophosphatemia, Hypophosphatemic rickets, Pulmonary fibrosis, Emphysema, Lung adenocarcinoma |
OMIM:618913 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Hypoplasia of the pons, Retinal detachment, Microphthalmia, Optic nerve hypoplasia, Hypoplasia of... |
OMIM:615181 |
X-Linked Retinal Dysplasia |
|
Abnormal retinal vascular morphology, Retinal dysplasia, Abnormality of retinal pigmentation |
ORPHA:1852 |
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome |
|
Cerebellar hypoplasia, Optic nerve hypoplasia |
ORPHA:65288 |
Ichthyosis, Hystrix-Like, With Deafness |
|
Absent eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Sparse eyelashes, Squamous cell car... |
OMIM:602540 |
Familial Adenomatous Polyposis 2 |
|
Colon cancer, Adenomatous colonic polyposis |
OMIM:608456 |
Mosaic Variegated Aneuploidy Syndrome 4 |
|
Abnormality of chromosome stability |
OMIM:620153 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Lymphoproliferative disorder, Recurrent respiratory infections, Hemolytic anemia, Leukemia, Autoi... |
OMIM:614470 |
Thrombocytopenic Purpura, Autoimmune |
|
Thrombocytopenia |
OMIM:188030 |
Macular Degeneration, Age-Related, 7 |
|
Macular degeneration |
OMIM:610149 |
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 |
Lynch Syndrome 2 |
|
Colon cancer |
OMIM:609310 |
Lynch Syndrome 1 |
|
Colon cancer |
OMIM:120435 |
Colorectal Cancer, Susceptibility To, 3 |
|
Colon cancer |
OMIM:612229 |
Epidermal Nevus Syndrome |
|
Lipoma, Spinal cord tumor, Rhabdomyosarcoma, Weakness of long finger extensor muscles |
ORPHA:35125 |
Macular Degeneration, Early-Onset |
|
Macular degeneration, Choroidal neovascularization |
OMIM:616118 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anisocytosis, Jaundice, Reticulocytosis, Anemia, Hepatomegaly, Anemia of inadequate production, P... |
OMIM:615631 |
Cronkhite-Canada Syndrome |
|
Sparse body hair, Neoplasm, Patchy alopecia, Colon cancer, Furrowed tongue, Malabsorption, Anemia... |
ORPHA:2930 |
Peripheral Cone Dystrophy |
|
Optic atrophy, Peripheral retinal degeneration, Optic disc pallor, Cone/cone-rod dystrophy |
OMIM:609021 |
Generalized Eruptive Histiocytosis |
|
Leukemia, Hypereosinophilia, Histiocytosis |
ORPHA:157991 |
Retinitis Pigmentosa 63 |
|
Optic disc pallor, Rod-cone dystrophy |
OMIM:614494 |
Tumor Predisposition Syndrome 2 |
|
Colon cancer, Meningioma, Juvenile type ovarian granulosa cell tumor, Uveal melanoma, Schwannoma,... |
OMIM:619975 |
Gastrointestinal Stromal Tumor |
|
Neoplasm of the rectum, Abnormality of the liver, Anemia, Intestinal obstruction, Neoplasm of the... |
ORPHA:44890 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Hepatomegaly, Splenomegaly |
ORPHA:2274 |
Liberfarb Syndrome |
|
Retinal pigment epithelial mottling, Optic disc pallor, Retinal degeneration, Bone spicule pigmen... |
OMIM:618889 |
Hoyeraal-Hreidarsson Syndrome |
|
Oral leukoplakia, Anemia, Premature graying of hair, Bone marrow hypocellularity, Thrombocytopeni... |
ORPHA:3322 |
Retinitis Pigmentosa 81 |
|
Attenuation of retinal blood vessels, Optic disc pallor, Retinal pigment epithelial atrophy, Bone... |
OMIM:617871 |
Primary Erythromelalgia |
|
Leukemia, Recurrent respiratory infections |
ORPHA:90026 |
Acute Promyelocytic Leukemia |
|
Acute promyelocytic leukemia |
OMIM:612376 |
Central Retinal Vein Occlusion |
|
Retinal vascular tortuosity, Papilledema, Macular degeneration, Pigmentary retinopathy, Cystoid m... |
ORPHA:411527 |
Nijmegen Breakage Syndrome |
|
Recurrent sinopulmonary infections, Hemolytic anemia, Cleft palate, Anal stenosis, Recurrent resp... |
ORPHA:647 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form |
|
Spotty hypopigmentation, Abnormality of the dentition, Hypomelanotic macule, Hypermelanotic macul... |
ORPHA:79399 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Acute lymphoblastic leukemia, Myelodysplasia, Neutropenia |
OMIM:610738 |
Congenital Disorder Of Glycosylation, Type Icc |
|
Hepatomegaly |
OMIM:301031 |
Glycine N-Methyltransferase Deficiency |
|
Hepatomegaly, Elevated hepatic transaminase |
OMIM:606664 |
Eosinophilia, Familial |
|
Leukocytosis, Anemia, Myocardial eosinophilic infiltration, Eosinophilia, Thrombocytopenia |
OMIM:131400 |
Recessive Dystrophic Epidermolysis Bullosa Inversa |
|
Gastrointestinal inflammation, Cutaneous melanoma, Anemia, Esophageal stricture, Basal cell carci... |
ORPHA:79409 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 2 |
|
Myeloid leukemia, Aplastic anemia, Leukemia, Bone marrow hypocellularity, Cirrhosis, Pancytopenia |
OMIM:614743 |
Familial Adenomatous Polyposis 1 |
|
Carcinoma, Adrenocortical adenoma, Colon cancer, Small intestine carcinoid, Multiple gastric poly... |
OMIM:175100 |
Stargardt Disease 4 |
|
Macular degeneration, Retinal flecks |
OMIM:603786 |
Rothmund-Thomson Syndrome, Type 1 |
|
Conical tooth, Premature ovarian insufficiency, Hypothyroidism, Cafe-au-lait spot, Absent eyelash... |
OMIM:618625 |
Cowden Syndrome 7 |
|
Hemangioma, Goiter, Papilloma, Breast carcinoma, Trichilemmoma, Papillary thyroid carcinoma, Inte... |
OMIM:616858 |
Sea-Blue Histiocyte Disease |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... |
OMIM:269600 |
Autosomal Dominant Generalized Dystrophic Epidermolysis Bullosa |
|
Recurrent loss of toenails and fingernails, Dystrophic fingernails, Dystrophic toenail, Oral muco... |
ORPHA:231568 |
Exudative Vitreoretinopathy 7 |
|
Retinal detachment, Retinal degeneration, Exudative vitreoretinopathy, Retinal hole, Retinal fold |
OMIM:617572 |
Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Neoplasm of the rectum, Papilloma, Colon cancer, Juvenile gastrointestinal polyposis, Multiple ga... |
ORPHA:480536 |
Oral Submucous Fibrosis |
|
Flexion contracture, Oropharyngeal squamous cell carcinoma |
ORPHA:357154 |
Septooptic Dysplasia |
|
Agenesis of corpus callosum, Optic disc hypoplasia, Optic nerve hypoplasia |
OMIM:182230 |
Pyomyositis |
|
Testicular teratoma, Weight loss |
ORPHA:764 |
Spastic Paraplegia 74, Autosomal Recessive |
|
Optic atrophy, Peripheral axonal neuropathy |
OMIM:616451 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Oral leukoplakia, Inflammation of the large intestine, Bone marrow hypocellularity, Esophageal st... |
OMIM:620133 |
Ovarian Cancer |
|
Dysgerminoma, Breast carcinoma, Ovarian papillary adenocarcinoma |
OMIM:167000 |
Retinitis Pigmentosa 95 |
|
Attenuation of retinal blood vessels, Optic disc pallor, Perifoveal ring of hyperautofluorescence... |
OMIM:620102 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Leukopenia, Refractory anemia, Myelodysplasia, Lymphoma, Monocytosis, Acute myeloid leukemia |
OMIM:616871 |
Common Variable Immunodeficiency |
|
Chronic otitis media, Recurrent respiratory infections, Vasculitis, Anal atresia, Hemolytic anemi... |
ORPHA:1572 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Stroke, Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, ... |
ORPHA:444463 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
HbH hemoglobin, Myelodysplasia, Microcytic anemia, Thrombocytopenia, Acute leukemia, Splenomegaly... |
ORPHA:231401 |
Albinism, Oculocutaneous, Type Iii |
|
Partial albinism, Red hair, Albinism |
OMIM:203290 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Sparse body hair, Anonychia, Anemia, Enamel hypoplasia, Oral mucosal blisters, Palmoplantar kerat... |
ORPHA:79402 |
Epidermolysis Bullosa Simplex 2F, With Mottled Pigmentation |
|
Hypoplastic fifth toenail, Punctate palmoplantar hyperkeratosis, Nail dysplasia, Onychogryposis, ... |
OMIM:131960 |
Epidermodysplasia Verruciformis |
|
Squamous cell carcinoma, Verrucae |
ORPHA:302 |
Colorectal Cancer, Hereditary Nonpolyposis, Type 6 |
|
Hereditary nonpolyposis colorectal carcinoma |
OMIM:614331 |
Colorectal Cancer, Hereditary Nonpolyposis, Type 7 |
|
Hereditary nonpolyposis colorectal carcinoma |
OMIM:614385 |
Medulloblastoma |
|
Medulloblastoma |
OMIM:155255 |
Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Revesz Syndrome |
|
Oral leukoplakia, Nail pits, Aplastic anemia, Fine hair, Bone marrow hypocellularity, Fine, retic... |
OMIM:268130 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Abnormal hemoglobin, Abnormal cardiac septum morphology, Thrombocytopenia, Anemia |
ORPHA:3319 |
Meige Disease |
|
Angiosarcoma, Pleural effusion |
ORPHA:90186 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Anemia, Neutropenia, Myelodysplasia, Increased mean corpuscular volume, Thrombocytopenia, Pancyto... |
OMIM:619041 |
Bleeding Disorder, Platelet-Type, 9 |
|
Thrombocytopenia |
OMIM:614200 |
Night Blindness, Congenital Stationary, Type 1G |
|
Optic disc pallor, Rod-cone dystrophy, Congenital stationary night blindness |
OMIM:616389 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Acute monocytic leukemia, Anemia, Neutropenia, Eosinophilia, Thrombocytosis, Monocytosis, Congeni... |
OMIM:202700 |
Palmoplantar Carcinoma, Multiple Self-Healing |
|
Squamous cell carcinoma, Carcinoma, Nail dystrophy |
OMIM:615225 |
Turcot Syndrome With Polyposis |
|
Astrocytoma, Pilomatrixoma, Papillary thyroid carcinoma, Basal cell carcinoma, Adenomatous coloni... |
ORPHA:99818 |
Werner Syndrome |
|
Meningioma, Hypertriglyceridemia, Elevated hemoglobin A1c, Osteosarcoma, Alopecia of scalp |
OMIM:277700 |
Cutaneous Telangiectasia And Cancer Syndrome, Familial |
|
Breast carcinoma, Alopecia, Yellow nails, Oropharyngeal squamous cell carcinoma, Sparse lateral e... |
OMIM:614564 |
Werner Syndrome |
|
Cutaneous melanoma, Meningioma, Acral lentiginous melanoma, Pili torti, Sparse scalp hair, Neopla... |
ORPHA:902 |
Exudative Vitreoretinopathy 3 |
|
Retinal exudate, Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold |
OMIM:605750 |
Recurrent Respiratory Papillomatosis |
|
Atelectasis, Dysphagia, Recurrent pneumonia, Recurrent upper respiratory tract infections, Squamo... |
ORPHA:60032 |
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive |
|
Recurrent sinopulmonary infections, Reduced natural killer cell count, Eosinophilia, Recurrent pn... |
OMIM:243700 |
Unclassified Myelodysplastic Syndrome |
|
Leukocytosis, Myelodysplasia, Multiple lineage myelodysplasia, Acute myeloid leukemia |
ORPHA:98827 |
Macular Degeneration, Atrophic, X-Linked |
|
Macular degeneration |
OMIM:300834 |
Cone-Rod Dystrophy 17 |
|
Optic disc pallor, Cone/cone-rod dystrophy |
OMIM:615163 |
Retinitis Pigmentosa 62 |
|
Optic disc pallor, Bull's eye maculopathy, Bone spicule pigmentation of the retina, Attenuation o... |
OMIM:614181 |
Retinitis Pigmentosa 50 |
|
Retinal detachment, Optic disc pallor, Attenuation of retinal blood vessels, Rod-cone dystrophy, ... |
OMIM:613194 |
Retinitis Pigmentosa 70 |
|
Macular degeneration, Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vesse... |
OMIM:615922 |
Epidermolysis Bullosa, Junctional 4, Intermediate |
|
Dental enamel pits, Dystrophic fingernails, Macular hyperpigmented dermopathy, Carious teeth, Sca... |
OMIM:619787 |
Peutz-Jeghers Syndrome |
|
Biliary tract abnormality, Precocious puberty with Sertoli cell tumor, Uterine neoplasm, Neoplasm... |
OMIM:175200 |
Neurofibromatosis, Type I |
|
Spinal neurofibroma, Optic nerve glioma, Meningioma, Pheochromocytoma, Astrocytoma, Plexiform neu... |
OMIM:162200 |
Wagner Vitreoretinopathy |
|
Optically empty vitreous, Vitreoretinopathy, Peripheral tractional retinal detachment, Exudative ... |
OMIM:143200 |
Localized Dystrophic Epidermolysis Bullosa, Nails Only |
|
Onychogryposis of fingernail, Onychogryposis, Dystrophic fingernails, Dystrophic toenail, Fragile... |
ORPHA:158676 |
Wt Limb-Blood Syndrome |
|
Cryptorchidism, Joint contracture of the 5th finger, Leukemia, Hypoplastic anemia, Thrombocytopen... |
OMIM:194350 |
Isolated Asymptomatic Elevation Of Creatine Phosphokinase |
|
Elevated creatine kinase after exercise, Elevated circulating creatine kinase concentration |
ORPHA:206599 |
Late-Onset Retinal Degeneration |
|
Sub-RPE deposits, Choroidal neovascularization, Retinal degeneration, Retinopathy, Chorioretinal ... |
OMIM:605670 |
Ectodermal Dysplasia 8, Hair/Tooth/Nail Type |
|
Irregular dentition, Agenesis of permanent teeth, Dystrophic fingernails, Abnormality of dental m... |
OMIM:602401 |
Neutrophilia, Hereditary |
|
Neutrophilia, Myelodysplasia, Splenomegaly |
OMIM:162830 |
Thyroid Cancer, Nonmedullary, 4 |
|
Goiter, Prostate cancer, Papillary thyroid carcinoma, Basal cell carcinoma, Ovarian neoplasm |
OMIM:616534 |
Pontocerebellar Hypoplasia, Type 15 |
|
Spastic tetraplegia, Hydrocephalus, Chronic neutropenia, Anemia, Thrombocytopenia, Cerebellar hyp... |
OMIM:619302 |
Mosaic Variegated Aneuploidy Syndrome |
|
Neoplasm, Colon cancer, Duodenal atresia, Muscular dystrophy, Acute lymphoblastic leukemia, Myelo... |
ORPHA:1052 |
Retinitis Pigmentosa 26 |
|
Optic disc pallor, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:608380 |
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex |
|
Palmoplantar blistering, Ridged nail, Abnormal toenail morphology, Dystrophic toenail, Oral mucos... |
ORPHA:89838 |
Deafness, Congenital, With Onychodystrophy, Autosomal Dominant |
|
Conical tooth, Selective tooth agenesis, Small nail, Absent toenail, Toe syndactyly, Absent thumb... |
OMIM:124480 |
Pachyonychia Congenita |
|
Oral leukoplakia, Onychogryposis of fingernail, Palmoplantar blistering, Alopecia, Advanced erupt... |
ORPHA:2309 |
Optic Atrophy 3, Autosomal Dominant |
|
Optic atrophy, Optic disc pallor |
OMIM:165300 |
Hyperleucine-Isoleucinemia |
|
Retinal degeneration |
OMIM:238340 |
Osteopetrosis, Autosomal Dominant 1 |
|
Generalized osteosclerosis, Osteopetrosis, Calvarial osteosclerosis, Thickened cortex of long bones |
OMIM:607634 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Recurrent respiratory infections, Inflammation of the large intestine, Hemophagocytosis, Aplastic... |
OMIM:300635 |
Familial Exudative Vitreoretinopathy |
|
Abnormal optic disc morphology, Peripheral retinal avascularization, Vitreous floaters, Rhegmatog... |
ORPHA:891 |
Night Blindness, Congenital Stationary, Type 1D |
|
Congenital stationary night blindness, Macular atrophy, Pigmentary retinopathy, Attenuation of re... |
OMIM:613830 |
Breast-Ovarian Cancer, Familial, Susceptibility To, 3 |
|
Breast carcinoma, Ovarian 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 |
Dyskeratosis Congenita, Digenic |
|
Oral leukoplakia, Decreased testicular size, Abnormality of the dentition, Decreased circulating ... |
OMIM:620040 |
Ceroid Lipofuscinosis, Neuronal, 11 |
|
Optic atrophy, Retinal dystrophy |
OMIM:614706 |
Autoimmune Lymphoproliferative Syndrome |
|
Decreased specific anti-polysaccharide antibody level, Colitis, Hepatomegaly, Gastritis, Neoplasm... |
ORPHA:3261 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Optic atrophy, Microphthalmia, Abnormality of retinal pigmentation |
ORPHA:1574 |
X-Linked Intellectual Disability, Najm Type |
|
Optic nerve hypoplasia, Chorioretinal coloboma, Microcephaly, Cerebellar hypoplasia, Optic atroph... |
ORPHA:163937 |
Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Flexion contracture, Anemia, Esophageal stricture, Alopecia, Dysphagia, Nail dystrophy, Spontaneo... |
OMIM:226600 |
Polyposis, Intestinal, Scattered And Discrete |
|
Discrete intestinal polyps |
OMIM:175400 |
Sessile Serrated Polyposis Cancer Syndrome |
|
Serrated intestinal polyps |
OMIM:617108 |
Retinitis Pigmentosa 38 |
|
Macular atrophy, Optic disc pallor, Rod-cone dystrophy, Peripheral retinal atrophy |
OMIM:613862 |
Hirschsprung Disease |
|
Neoplasm of the thyroid gland, Intestinal obstruction, Functional abnormality of the gastrointest... |
ORPHA:388 |
Craniotelencephalic Dysplasia |
|
Septo-optic dysplasia, Microphthalmia, Microcephaly, Cerebellar hypoplasia, Arrhinencephaly, Opti... |
ORPHA:1528 |
Retinitis Pigmentosa 32 |
|
Pigmentary retinopathy, Optic disc pallor, Retinal degeneration, Bone spicule pigmentation of the... |
OMIM:609913 |
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity |
|
Hypoplasia of the corpus callosum, Microcephaly, Optic nerve hypoplasia |
OMIM:618890 |
Asbestos Intoxication |
|
Atelectasis, Interlobular septal thickening, Malignant mesothelioma, Pulmonary fibrosis, Pleural ... |
ORPHA:2302 |
Yellow Nail Syndrome |
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Recurrent respiratory infections, Pleuritis, Renal neoplasm, Neoplasm, Biliary tract neoplasm, Ne... |
ORPHA:662 |
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form |
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Gastrointestinal inflammation, Cutaneous melanoma, Anemia, Basal cell carcinoma, Nail dystrophy, ... |
ORPHA:79410 |
Exudative Vitreoretinopathy 2, X-Linked |
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Peripheral retinal avascularization, Subretinal exudate, Retinal vascular tortuosity, Retinal det... |
OMIM:305390 |
Chromosome 19P13.13 Deletion Syndrome |
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Optic atrophy, Microcephaly, Optic nerve hypoplasia |
OMIM:613638 |
Primary Myelofibrosis |
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Hepatosplenomegaly, Hemangioma, Leukocytosis, Extramedullary hematopoiesis, Anemia, Hepatomegaly,... |
ORPHA:824 |
Retinitis Pigmentosa 11 |
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Macular atrophy, Rod-cone dystrophy, Macular degeneration, Optic disc pallor, Bone spicule pigmen... |
OMIM:600138 |
Nijmegen Breakage Syndrome |
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Anal atresia, Medulloblastoma, Glioma, Recurrent infection of the gastrointestinal tract, Autoimm... |
OMIM:251260 |
Rothmund-Thomson Syndrome Type 1 |
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Cryptorchidism, Melanoma, Squamous cell carcinoma, Calcinosis, Aplastic anemia, Anemia, Leukemia,... |
ORPHA:221008 |
Hemochromatosis, Type 2B |
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Hypogonadism, Anemia, Cardiomyopathy, Hepatic fibrosis, Hepatomegaly, Elevated hepatic transamina... |
OMIM:613313 |
Usher Syndrome, Type Iiib |
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Optic disc pallor, Bull's eye maculopathy, Attenuation of retinal blood vessels |
OMIM:614504 |
Familial Pancreatic Carcinoma |
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Hepatosplenomegaly, Jaundice, Melanoma, Colon cancer, Neoplasm of the liver, Breast carcinoma, Ov... |
ORPHA:1333 |
Pachyonychia Congenita 2 |
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Oral leukoplakia, Nail dysplasia, Angular cheilitis, Sparse eyebrow, Dry hair, Natal tooth, Nail ... |
OMIM:167210 |
Tietz Syndrome |
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White eyebrow, Hypopigmentation of the skin, Hypopigmentation of hair, Abnormality of skin pigmen... |
ORPHA:42665 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1 |
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Dyspnea, Myeloid leukemia, Reticular pattern on pulmonary HRCT, Aplastic anemia, Decreased DLCO, ... |
OMIM:614742 |
5Q14.3 Microdeletion Syndrome |
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Frontal cortical atrophy, Hypoplasia of the corpus callosum, Agenesis of cerebellar vermis, Optic... |
ORPHA:228384 |
Fanconi Anemia, Complementation Group D1 |
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Anal atresia, Acute myeloid leukemia, T-cell acute lymphoblastic leukemias |
OMIM:605724 |
Uncombable Hair Syndrome |
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Patchy alopecia, White hair, Coarse hair, Woolly hair, Abnormal hair morphology, Trichodysplasia |
ORPHA:1410 |
Rothmund-Thomson Syndrome Type 2 |
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Lymphoma, High palate, Cryptorchidism, Melanoma, Squamous cell carcinoma, Calcinosis, Aplastic an... |
ORPHA:221016 |
Ataxia-Pancytopenia Syndrome |
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Recurrent respiratory infections, Abnormal macrophage morphology, Abnormal platelet function, Abn... |
ORPHA:2585 |
Dyskeratosis Congenita |
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Abnormal morphology of female internal genitalia, Abnormal eyebrow morphology, Malabsorption, Dia... |
ORPHA:1775 |
Xeroderma Pigmentosum, Variant Type |
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Squamous cell carcinoma, Cutaneous melanoma, Basal cell carcinoma |
OMIM:278750 |
Optic Atrophy 6 |
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Optic atrophy |
OMIM:258500 |
Pontocerebellar Hypoplasia, Type 14 |
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Spastic tetraplegia, Chronic neutropenia, Hypoplasia of the pons, Thrombocytopenia, Cerebellar hy... |
OMIM:619301 |
X-Linked Sideroblastic Anemia |
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Splenomegaly, Pallor, Anemia |
ORPHA:75563 |
Amegakaryocytic Thrombocytopenia, Congenital |
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Thrombocytopenia, Amegakaryocytic thrombocytopenia, Pancytopenia |
OMIM:604498 |
Interstitial Lung Disease 2 |
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Alveolar cell carcinoma, Pulmonary arterial hypertension, Dyspnea, Increased circulating antibody... |
OMIM:178500 |
Mantle Cell Lymphoma |
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Abnormality of the gastrointestinal tract, B-cell lymphoma, Weight loss |
ORPHA:52416 |
Retinitis Pigmentosa 28 |
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Optic disc pallor, Rod-cone dystrophy, Bone spicule pigmentation of the retina |
OMIM:606068 |
Peripheral Primitive Neuroectodermal Tumor |
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Jaundice, Torticollis, Uterine neoplasm, Anemia, Neoplasm of the pancreas, Brain neoplasm, Elevat... |
ORPHA:370348 |
Muir-Torre Syndrome |
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Renal neoplasm, Adenoma sebaceum, Malignant genitourinary tract tumor, Neoplasm of the liver, Col... |
ORPHA:587 |
Beta-Thalassemia |
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Anemia, Abnormal hemoglobin, Hepatomegaly, Microcytic anemia, Splenomegaly, Hepatitis, Thrombocyt... |
ORPHA:848 |
Hereditary Acrokeratotic Poikiloderma |
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Oral leukoplakia, Camptodactyly of finger, Gingival bleeding, Abnormality of the dentition, Irreg... |
ORPHA:2907 |
Leishmaniasis |
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Abnormal macrophage morphology, Leukopenia, Increased circulating antibody level, Anemia, Hepatom... |
ORPHA:507 |
Storage Pool Platelet Disease |
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Myelodysplasia, Decreased mean platelet volume, Acute leukemia |
OMIM:185050 |
Monosomy 9Q22.3 |
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Cardiac fibroma, Odontogenic keratocysts of the jaw, Rhabdomyosarcoma, Ovarian fibroma, Basal cel... |
ORPHA:77301 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
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Microphthalmia, Retinal degeneration |
OMIM:251700 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
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Hepatocellular carcinoma, Hepatic fibrosis, Hepatomegaly, Elevated hepatic transaminase, Cirrhosi... |
ORPHA:369 |
Hepatorenocardiac Degenerative Fibrosis |
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Hepatocellular carcinoma, Hepatosplenomegaly, Jaundice, Hepatic bridging fibrosis, Elevated hepat... |
OMIM:619902 |
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant |
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Macrothrombocytopenia |
OMIM:619840 |
Insulinoma Tumor Suppressor Gene Locus |
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Insulinoma |
OMIM:606960 |
Congenital Bile Acid Synthesis Defect Type 1 |
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Biliary tract abnormality, Jaundice, Neonatal cholestatic liver disease, Malabsorption, Hepatomeg... |
ORPHA:79301 |
Autoimmune Lymphoproliferative Syndrome |
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Increased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Increased ... |
OMIM:601859 |
Pachyonychia Congenita 1 |
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Onychogryposis, Oral leukoplakia, Palmoplantar hyperkeratosis, Nail dystrophy |
OMIM:167200 |
Gray Platelet Syndrome |
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Thrombocytopenia, Myelodysplasia, Splenomegaly, Abnormality of thrombocytes |
ORPHA:721 |
Immunodeficiency, Common Variable, 13 |
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Acute lymphoblastic leukemia, B lymphocytopenia, Pancytopenia |
OMIM:616873 |
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome |
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Neoplasm of the thyroid gland, Venous insufficiency, Arteriovenous malformation, Visceral angioma... |
ORPHA:137608 |
Ovarian Fibrothecoma |
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Peritonitis, Abnormality of the ovary, Ovarian fibroma, Hirsutism, Fibrosarcoma, Pleural effusion... |
ORPHA:314478 |
Pierre Robin Sequence With Facial And Digital Anomalies |
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Short distal phalanx of finger, Hyperconvex nail, Cleft palate, Tapered finger, Glossoptosis, Pie... |
OMIM:311895 |
Bone Marrow Failure Syndrome 2 |
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Bone marrow hypocellularity, Thrombocytopenia, Leukopenia, Anemia |
OMIM:615715 |
Osteopetrosis, Autosomal Dominant 2 |
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Generalized osteosclerosis, Osteopetrosis, Recurrent fractures, Mandibular osteomyelitis, Fractur... |
OMIM:166600 |
Cognitive Impairment With Or Without Cerebellar Ataxia |
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Optic nerve hypoplasia |
OMIM:614306 |
X-Linked Lymphoproliferative Disease |
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Myocarditis, Hemophagocytosis, Fulminant hepatitis, Colitis, Histiocytosis, Increased circulating... |
ORPHA:2442 |
Birdshot Chorioretinopathy |
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Vitreous floaters, Abnormal retinal vascular morphology, Epiretinal membrane, Retinal detachment,... |
ORPHA:179 |
Thrombocytopenia 7 |
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Reduced platelet dense granules, Impaired ristocetin-induced platelet aggregation, Reduced platel... |
OMIM:619130 |
Retinoschisis 1, X-Linked, Juvenile |
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Macular atrophy, Retinal atrophy, Retinal detachment, Peripheral cystoid retinal degeneration, Re... |
OMIM:312700 |
Baller-Gerold Syndrome |
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Lymphoma, Anal atresia, High palate, Anteriorly placed anus, Malabsorption, Cleft palate, Osteosa... |
ORPHA:1225 |
Chronic Myeloid Leukemia |
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Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Abn... |
ORPHA:521 |
Optic Atrophy 12 |
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Optic atrophy, Optic disc pallor |
OMIM:618977 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
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Meningioma, Leukemia, Nephroblastoma |
OMIM:602501 |
Epidermolysis Bullosa, Junctional 1A, Intermediate |
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