Myofibromatosis, Infantile, 1 |
|
Fibroma, Myofibromatosis |
OMIM:228550 |
Tumor Predisposition Syndrome 4 |
|
Glioma, Breast carcinoma, Stomach cancer, Meningioma, Sarcoma |
OMIM:609265 |
Reticulum Cell Sarcoma |
|
Neoplasm, Sarcoma |
OMIM:267730 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Ewing Sarcoma |
|
Ewing sarcoma |
OMIM:612219 |
Multiple Fibroadenomas Of The Breast |
|
Fibroadenoma of the breast |
OMIM:615554 |
Colorectal Cancer, Susceptibility To, 12 |
|
Colorectal polyposis, Carcinoma |
OMIM:615083 |
Sarcoma, Synovial |
|
Synovial sarcoma |
OMIM:300813 |
Alveolar Soft Part Sarcoma |
|
Alveolar soft part sarcoma |
OMIM:606243 |
Undifferentiated Pleomorphic Sarcoma |
|
Soft tissue sarcoma |
ORPHA:2023 |
Melanoma-Pancreatic Cancer Syndrome |
|
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Melano... |
OMIM:606719 |
Diamond-Blackfan Anemia 19 |
|
Erythroid hypoplasia, Steroid-responsive anemia, Anemia |
OMIM:618312 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Splenomegaly, Pallor, Anemia |
ORPHA:46532 |
Li-Fraumeni Syndrome |
|
Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ... |
OMIM:151623 |
Enchondromatosis, Multiple, Ollier Type |
|
Chondrosarcoma, Hemangioma, Multiple enchondromatosis |
OMIM:166000 |
Desmoid Disease, Hereditary |
|
Desmoid tumors, Colorectal polyposis, Colon cancer, Breast carcinoma |
OMIM:135290 |
N Syndrome |
|
Cryptorchidism, Leukemia, Neoplasm, Abnormality of chromosome stability |
OMIM:310465 |
Dermatofibrosarcoma Protuberans |
|
Fibrosarcoma, Neoplasm of the skin |
ORPHA:31112 |
Transient Erythroblastopenia Of Childhood |
|
Transient erythroblastopenia, Anemia |
OMIM:227050 |
Diamond-Blackfan Anemia-Like |
|
Steroid-responsive anemia, Pure red cell aplasia |
OMIM:617911 |
Chondrosarcoma, Extraskeletal Myxoid |
|
Chondrosarcoma |
OMIM:612237 |
Chondrosarcoma |
|
Chondrosarcoma |
OMIM:215300 |
Acquired Ichthyosis |
|
Neoplasm, Lymphoma, Multiple myeloma, Sarcoma |
ORPHA:454 |
Fanconi Anemia, Complementation Group G |
|
Abnormality of chromosome stability, Leukemia, Myelodysplasia |
OMIM:614082 |
Multiple Enchondromatosis, Maffucci Type |
|
Chondrosarcoma, Hemangioma, Multiple enchondromatosis |
OMIM:614569 |
Milroy Disease |
|
Angiosarcoma, Hydrocele testis, Neoplasm of the skin |
ORPHA:79452 |
Nut Midline Carcinoma |
|
Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Panc... |
ORPHA:443167 |
Acute Peripheral Arterial Occlusion |
|
Myocardial infarction, Abnormal capillary physiology, Leukocytosis, Absent ankle pulse, Pallor, S... |
ORPHA:90064 |
Maffucci Syndrome |
|
Neoplasm of the adrenal cortex, Chondrosarcoma, Astrocytoma, Hemangiomatosis, Neoplasm of the par... |
ORPHA:163634 |
Progressive Osseous Heteroplasia |
|
Abnormality of the parathyroid gland, Sarcoma |
ORPHA:2762 |
Anemia, Sideroblastic, 1 |
|
Sideroblastic anemia, Macrocytic anemia, Anemic pallor, Anemia of inadequate production, Hypochro... |
OMIM:300751 |
Ollier Disease |
|
Chondrosarcoma, Visceral angiomatosis, Multiple enchondromatosis, Neoplasm, Hemangioma, Sarcoma |
ORPHA:296 |
Paraneoplastic Pemphigus |
|
B-cell lymphoma, Thymoma, Sarcoma |
ORPHA:63455 |
Breath-Holding Spells |
|
Iron deficiency anemia, Pallor |
OMIM:607578 |
Infantile Myofibromatosis |
|
Benign neoplasm of the central nervous system, Neoplasm of the pancreas, Intestinal obstruction, ... |
ORPHA:2591 |
Acute Myelomonocytic Leukemia |
|
Eosinophilia, Leukocytosis, Anemia, Pallor, Thrombocytopenia |
ORPHA:517 |
Mast Cell Sarcoma |
|
Hepatomegaly, Sarcoma |
ORPHA:66661 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Pallor, Poikilocyto... |
OMIM:615631 |
Liposarcoma |
|
Sarcoma |
ORPHA:69078 |
Large Congenital Melanocytic Nevus |
|
Rhabdomyosarcoma, Neoplasm, Neoplasm of the skin, Cutaneous melanoma, Generalized hirsutism, Sarcoma |
ORPHA:626 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Congest... |
ORPHA:75564 |
Fanconi Anemia, Complementation Group D1 |
|
Acute myeloid leukemia, Anal atresia, T-cell acute lymphoblastic leukemias, Chromosomal breakage ... |
OMIM:605724 |
Diamond-Blackfan Anemia 17 |
|
Anemia |
OMIM:617409 |
Meige Disease |
|
Angiosarcoma |
ORPHA:90186 |
Desmoplastic Small Round Cell Tumor |
|
Neoplasm of the pancreas, Hepatomegaly, Testicular neoplasm, Ileus, Ovarian neoplasm, Neoplasm of... |
ORPHA:83469 |
Apc-Related Attenuated Familial Adenomatous Polyposis |
|
Neoplasm of the pancreas, Duodenal polyposis, Astrocytoma, Adrenocortical carcinoma, Pilomatrixom... |
ORPHA:247806 |
Epidermodysplasia Verruciformis, Susceptibility To, 3 |
|
Basal cell carcinoma, Verrucae, Squamous cell carcinoma |
OMIM:618267 |
Rhabdoid Tumor |
|
Neoplasm of the central nervous system, Renal neoplasm, Neoplasm of the liver, Sarcoma |
ORPHA:69077 |
Fanconi Anemia, Complementation Group T |
|
Acute myeloid leukemia, Chromosomal breakage induced by crosslinking agents |
OMIM:616435 |
Tumor Predisposition Syndrome 1 |
|
Uveal melanoma, Renal cell carcinoma, Cutaneous melanoma, Malignant mesothelioma, Lung adenocarci... |
OMIM:614327 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Desmoid Tumor |
|
Intestinal polyposis, Intestinal obstruction, Malabsorption, Desmoid tumors, Neoplasm of the skin... |
ORPHA:873 |
Hb Bart'S Hydrops Fetalis |
|
Pericarditis, Abnormal hemoglobin, Splenomegaly, Congestive heart failure, Pallor, Anemia |
ORPHA:163596 |
Familial Adenomatous Polyposis 1 |
|
Duodenal polyposis, Astrocytoma, Adrenocortical carcinoma, Fibroadenoma of the breast, Medullobla... |
OMIM:175100 |
Disseminated Superficial Actinic Porokeratosis |
|
Squamous cell carcinoma |
ORPHA:79152 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Sideroblastic anemia, Hypochromia, Decreased mean corpuscular volume, Anemia |
OMIM:205950 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Cardiac arrest, Megaloblastic anemia, Paroxysmal atrial tachycardia, Congestive heart failure, Pa... |
ORPHA:49827 |
Basal Cell Nevus Syndrome 2 |
|
Angiofibromas, Neurofibroma, Medulloblastoma, Basal cell carcinoma, Meningioma |
OMIM:620343 |
Exostoses, Multiple, Type Ii |
|
Chondrosarcoma, Multiple exostoses, Pelvic bone exostoses, Rib exostoses, Scapular exostoses |
OMIM:133701 |
Exostoses, Multiple, Type I |
|
Chondrosarcoma, Multiple exostoses, Pelvic bone exostoses, Rib exostoses, Scapular exostoses |
OMIM:133700 |
Gardner Syndrome |
|
Duodenal polyposis, Brain neoplasm, Astrocytoma, Multiple gastric polyps, Papillary thyroid carci... |
ORPHA:79665 |
Ovarian Fibrothecoma |
|
Diffuse leiomyomatosis, Ovarian fibroma, Fibrosarcoma, Abnormality of the ovary, Hirsutism |
ORPHA:314478 |
Cheilitis Glandularis |
|
Abnormal salivary gland morphology, Neoplasm, Squamous cell carcinoma |
ORPHA:1221 |
Evans Syndrome |
|
Autoimmune hemolytic anemia, Epistaxis, Autoimmune thrombocytopenia, Neutropenia in presence of a... |
ORPHA:1959 |
X-Linked Sideroblastic Anemia |
|
Splenomegaly, Pallor, Anemia |
ORPHA:75563 |
Ataxia-Telangiectasia |
|
Elevated hepatic transaminase, Hypopigmentation of hair, Abnormality of chromosome stability, Pol... |
ORPHA:100 |
Attenuated Familial Adenomatous Polyposis |
|
Duodenal polyposis, Astrocytoma, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic p... |
ORPHA:220460 |
Beta-Thalassemia |
|
Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Skin ulcer, Anemia, Pallor, Hypertrophic ca... |
ORPHA:848 |
Elliptocytosis 1 |
|
Splenomegaly, Hemolytic anemia, Elliptocytosis, Pallor |
OMIM:611804 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Tachycardia, Autoimmune hemolytic anemia, Splenomegaly, Congestive heart failure, Pallor |
ORPHA:90037 |
Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
Fanconi Anemia, Complementation Group S |
|
Chromosome breakage, Low anterior hairline, Breast carcinoma, Ovarian neoplasm, Narrow palate, Lo... |
OMIM:617883 |
Yellow Nail Syndrome |
|
Renal neoplasm, Biliary tract neoplasm, Yellow nails, Neoplasm of the lung, Neoplasm, Sarcoma |
ORPHA:662 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Splenomegaly, Decreased mean corpuscular volume, Pallor, Poikilocytosis, Hypochromia, Anemia |
OMIM:615234 |
Li-Fraumeni Syndrome |
|
Astrocytoma, Neoplasm of the central nervous system, Neoplasm, Thyroid carcinoma, Prostate cancer... |
ORPHA:524 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Abnormal hemoglobin, Anemia |
ORPHA:231249 |
Immunodeficiency 54 |
|
Chromosome breakage, Hepatomegaly, Lymphoproliferative disorder, Adrenocorticotropic hormone excess |
OMIM:609981 |
Multiple Endocrine Neoplasia, Type Iv |
|
Hyperparathyroidism, Elevated circulating growth hormone concentration, Pancreatic endocrine tumo... |
OMIM:610755 |
Schöpf-Schulz-Passarge Syndrome |
|
Alopecia, Ovarian neoplasm, Squamous cell carcinoma, Basal cell carcinoma, Sparse hair, Aplasia/H... |
ORPHA:50944 |
Gastrointestinal Stromal Tumor |
|
Intestinal obstruction, Neoplasm of the stomach, Gastrointestinal stroma tumor, Esophageal neopla... |
ORPHA:44890 |
Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Pallor |
ORPHA:79283 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Decreased hemoglobin concentration, Reticulocytosis, Reduced red cell pyruvate kinase level, Sple... |
OMIM:266200 |
Congenital Heart Block |
|
First degree atrioventricular block, Gallop rhythm, Congestive heart failure, Atrioventricular bl... |
ORPHA:60041 |
Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
Trimethylaminuria |
|
Tachycardia, Splenomegaly, Hypertension, Neutropenia, Anemia |
OMIM:602079 |
Acromesomelic Dysplasia, Grebe Type |
|
Sarcoma |
ORPHA:2098 |
Fanconi Anemia, Complementation Group N |
|
Nephroblastoma, Medulloblastoma, Neuroblastoma, Chromosomal breakage induced by crosslinking agents |
OMIM:610832 |
Nthl1-Related Attenuated Familial Adenomatous Polyposis |
|
Endometrial carcinoma, Pancreatic adenocarcinoma, Seborrheic keratosis, Adenomatous colonic polyp... |
ORPHA:454840 |
Squamous Cell Carcinoma, Head And Neck |
|
Squamous cell carcinoma |
OMIM:275355 |
Peripheral Cone Dystrophy |
|
Pallor |
OMIM:609021 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy, Anemia |
OMIM:611283 |
Tumor Predisposition Syndrome 2 |
|
Acute myeloid leukemia, Schwannoma, Adenomatous colonic polyposis, Uveal melanoma, Juvenile type ... |
OMIM:619975 |
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease |
|
Squamous cell carcinoma |
OMIM:613736 |
Aicardi Syndrome |
|
Hiatus hernia, Teratoma, Carcinoma, Cleft palate, Lipoma, Hepatoblastoma, Metastatic angiosarcoma... |
OMIM:304050 |
Terminal Osseous Dysplasia |
|
Fibroma, Cleft palate |
OMIM:300244 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Anisocytosis, Abnormal erythrocyte morphology, Melena, Increased mean corpuscular volume, Pallor,... |
ORPHA:98870 |
Palmoplantar Carcinoma, Multiple Self-Healing |
|
Carcinoma, Nail dystrophy, Squamous cell carcinoma |
OMIM:615225 |
Hyperkeratosis Lenticularis Perstans |
|
Basal cell carcinoma, Squamous cell carcinoma |
ORPHA:409 |
Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Tachycardia, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilo... |
ORPHA:35858 |
Werner Syndrome |
|
Renal neoplasm, Sparse scalp hair, Acral lentiginous melanoma, Abnormal hair whorl, Breast carcin... |
ORPHA:902 |
Gastrointestinal Stromal Tumor |
|
Gastrointestinal stroma tumor, Intestinal obstruction, Neurofibroma |
OMIM:606764 |
Primary Myelofibrosis |
|
Pancytopenia, Extramedullary hematopoiesis, Petechiae, Portal hypertension, Thrombocytopenia, Leu... |
ORPHA:824 |
Familial Adenomatous Polyposis |
|
Duodenal polyposis, Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Angiofibromas, Multiple ga... |
ORPHA:733 |
Lig4 Syndrome |
|
Hepatomegaly, Abnormality of chromosome stability, Malabsorption, Cryptorchidism, Lymphoma, Low a... |
ORPHA:99812 |
Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Sideroblastic anemia, Hypertrophic cardiomyopathy, Pallor |
OMIM:613561 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Premature graying of hair, Fibrosarcoma, Histiocytoma, Osteosarcoma |
OMIM:112250 |
Lung Cancer |
|
Alveolar cell carcinoma, Lung adenocarcinoma, Non-small cell lung carcinoma |
OMIM:211980 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Pallor, Poikilocytosis, Fava bean-indu... |
OMIM:300908 |
Oncogenic Osteomalacia |
|
Neoplasm of the skeletal system, Neoplasm of head and neck, Neurofibroma, Carcinoma, Giant cell t... |
ORPHA:352540 |
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Fibroma, High palate, Hypertrichosis, Hepatosplenomegaly |
OMIM:619750 |
Cowden Syndrome 1 |
|
Colonic diverticula, Goiter, Fibroadenoma of the breast, Breast carcinoma, Carcinoma, Hamartomato... |
OMIM:158350 |
Cowden Syndrome 7 |
|
Intestinal polyposis, Breast carcinoma, Trichilemmoma, Papillary thyroid carcinoma, Papilloma, He... |
OMIM:616858 |
Fanconi Anemia, Complementation Group P |
|
Cryptorchidism, Chromosomal breakage induced by crosslinking agents, Squamous cell carcinoma |
OMIM:613951 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... |
OMIM:603902 |
Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Hypertrophic cardiomyopathy, Pallor |
OMIM:612989 |
Dermatitis, Atopic |
|
Dry skin, Pallor, Facial erythema |
OMIM:603165 |
Refractory Anemia |
|
Normocytic anemia, Abnormal cardiac ventricular function, Macrocytic anemia, Anemia of inadequate... |
ORPHA:98826 |
Benign Paroxysmal Torticollis Of Infancy |
|
Pallor |
ORPHA:71518 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Elevated hepatic transaminase, B-cell lymphoma, Myelodysplasia, Hematolog... |
ORPHA:158057 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Tachycardia, Autoimmune hemolytic anemia, Splenomegaly, Congestive heart failure, Chronic lymphat... |
ORPHA:90033 |
Xeroderma Pigmentosum Variant |
|
Melanoma, Basal cell carcinoma, Squamous cell carcinoma |
ORPHA:90342 |
Leishmaniasis |
|
Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Skin ulcer, Anemia, Leukopenia, Pallo... |
ORPHA:507 |
Xeroderma Pigmentosum, Complementation Group F |
|
Seborrheic keratosis, Defective DNA repair after ultraviolet radiation damage, Keratoacanthoma, S... |
OMIM:278760 |
Optic Atrophy 1 |
|
Pallor |
OMIM:165500 |
Hereditary Spherocytosis |
|
Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Splenomegaly, Sphero... |
ORPHA:822 |
Pheochromocytoma/Paraganglioma Syndrome 4 |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Gastrointestinal stroma tumor, Glo... |
OMIM:115310 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Tachycardia, Syncope, Palpitations, Pallor, Hypertrophic cardiomyopathy |
ORPHA:276556 |
Schopf-Schulz-Passarge Syndrome |
|
Poroma, Squamous cell carcinoma, Basal cell carcinoma, Nail dystrophy, Sparse hair, Sparse body h... |
OMIM:224750 |
Thrombocytopenia 5 |
|
Petechiae, Epistaxis, Thrombocytopenia, B Acute Lymphoblastic Leukemia, Increased mean corpuscula... |
OMIM:616216 |
Tuberous Sclerosis 2 |
|
Chordoma, Astrocytoma, Angiofibromas, Retinal hamartoma, Ependymoma, Gingival fibromatosis, Subep... |
OMIM:613254 |
Fetal Parvovirus Syndrome |
|
Thrombocytopenia, Intrauterine growth retardation, Hypertrophic cardiomyopathy, Anemia |
ORPHA:295 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Decreased mean corpuscular volume, Pallor |
OMIM:611590 |
Diamond-Blackfan Anemia 16 |
|
Anemia, Pulmonic stenosis |
OMIM:617408 |
Retinoblastoma |
|
Lymphoma, Cleft palate, Retinoblastoma, Leukemia, Ewing sarcoma, Pinealoma, Osteosarcoma |
OMIM:180200 |
Bloom Syndrome |
|
Chromosome breakage, Abnormality of chromosome stability, Cryptorchidism, Lymphoma, Squamous cell... |
OMIM:210900 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
Punctate Palmoplantar Keratoderma Type 1 |
|
Pancreatic adenocarcinoma, Brain neoplasm, Neoplasm of the skeletal system, Esophageal neoplasm, ... |
ORPHA:79501 |
Hydrops Fetalis, Nonimmune |
|
Congestive heart failure, Anemia |
OMIM:236750 |
Spontaneous Periodic Hypothermia |
|
Arrhythmia, Pallor |
ORPHA:29822 |
Hereditary Leiomyomatosis And Renal Cell Cancer |
|
Cutaneous leiomyosarcoma, Multiple cutaneous leiomyomas, Decreased fumarate hydratase activity, U... |
OMIM:150800 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Tachycardia, Syncope, Palpitations, Pallor, Hypertrophic cardiomyopathy |
ORPHA:276575 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Pallor, Poikilocytosis, Anemia |
OMIM:616959 |
Bleeding Disorder, Platelet-Type, 16 |
|
Petechiae, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Thrombocytopenia |
OMIM:187800 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Reticulocytosis, Splenomegaly, Increased mean corpuscular hemoglobin concentration, Increased red... |
OMIM:194380 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Nail dystrophy, Laryngeal carcinoma, Decreased testicular size, Carcinoma |
OMIM:610644 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Tachycardia, Autoimmune hemolytic anemia, Pallor |
ORPHA:90036 |
Junctional Epidermolysis Bullosa Inversa |
|
Basal cell carcinoma, Nail dystrophy, Cutaneous melanoma, Squamous cell carcinoma |
ORPHA:79405 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Tachycardia, Syncope, Palpitations, Pallor, Hypertrophic cardiomyopathy |
ORPHA:276580 |
Myelofibrosis |
|
Splenomegaly, Pallor, Myeloproliferative disorder, Purpura |
OMIM:254450 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production |
OMIM:603529 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Pallor |
ORPHA:2786 |
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive |
|
Anemia, Purpura, Cerebral hemorrhage, Pulmonary embolism |
OMIM:614514 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... |
ORPHA:766 |
Beta-Thalassemia Intermedia |
|
Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, High-ou... |
ORPHA:231222 |
Mutyh-Related Attenuated Familial Adenomatous Polyposis |
|
Rectal polyposis, Adenomatous colonic polyposis, Desmoid tumors, Large intestinal polyposis, Colo... |
ORPHA:247798 |
Leber Congenital Amaurosis 14 |
|
Pallor |
OMIM:613341 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Tachycardia, Pallor |
ORPHA:276608 |
Non-Functioning Paraganglioma |
|
Cerebral hemorrhage, Congestive heart failure, Palpitations, Pallor, Positive regitine blocking t... |
ORPHA:94080 |
Refractory Anemia With Excess Blasts |
|
Acute myeloid leukemia, Anemic pallor, Anemia of inadequate production, Leukocytosis, Retinal hem... |
ORPHA:86839 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Pancytopenia, Megaloblastic anemia, Increased mean corpuscular volume, Pallor, Thrombocytopenia |
OMIM:613839 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Anisopoikilocytosis, Reticulocytopenia, Hepatosplenomegaly, Decreased mean corpuscular volume, Pa... |
ORPHA:300298 |
Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Neonatal death, Anemia, Hepatosplenomegaly |
OMIM:273680 |
Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thrombocytopenia |
OMIM:133180 |
Familial Adenomatous Polyposis 3 |
|
Endometrial carcinoma, Pancreatic adenocarcinoma, Adenomatous colonic polyposis, Breast carcinoma... |
OMIM:616415 |
Gist-Plus Syndrome |
|
Gastrointestinal stroma tumor, Intussusception, Intestinal polyposis |
OMIM:175510 |
Late-Onset Junctional Epidermolysis Bullosa |
|
Basal cell carcinoma, Nail dystrophy, Cutaneous melanoma, Squamous cell carcinoma |
ORPHA:79406 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Pappenheimer bodies, Sideroblastic anemia, Microcytic anemia, Pallor, Hypochromic anemia, Erythro... |
OMIM:600462 |
Rhabdomyosarcoma, Embryonal, 2 |
|
Ovarian thecoma, Pleuropulmonary blastoma, Multinodular goiter, Embryonal rhabdomyosarcoma, Nephr... |
OMIM:180295 |
Nijmegen Breakage Syndrome |
|
Abnormal hair quantity, Abnormality of chromosome stability, Anal stenosis, Glioma, B-cell lympho... |
ORPHA:647 |
Carney-Stratakis Syndrome |
|
Gastrointestinal stroma tumor, Intestinal obstruction, Paraganglioma |
ORPHA:97286 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Tachycardia, Syncope, Palpitations, Pallor |
ORPHA:324575 |
Mismatch Repair Cancer Syndrome 1 |
|
Glioblastoma multiforme, Astrocytoma, Non-Hodgkin lymphoma, Rhabdomyosarcoma, Oligodendroglioma, ... |
OMIM:276300 |
Pleuropulmonary Blastoma |
|
Medulloblastoma, Pleuropulmonary blastoma, Rhabdomyosarcoma |
OMIM:601200 |
Ichthyosis, Hystrix-Like, With Deafness |
|
Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Scarring alopecia of scalp, Sparse eyebrow... |
OMIM:602540 |
Bleeding Disorder, Platelet-Type, 19 |
|
Thrombocytopenia, Macrothrombocytopenia, Epistaxis, Anemia |
OMIM:616176 |
Muir-Torre Syndrome |
|
Colonic diverticula, Malignant genitourinary tract tumor, Laryngeal carcinoma, Breast carcinoma, ... |
OMIM:158320 |
Fanconi Anemia, Complementation Group O |
|
Chromosome breakage, Cryptorchidism, Rectal atresia, Neonatal death, Anal atresia |
OMIM:613390 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Epistaxis, Increased mean pl... |
OMIM:314050 |
Mosaic Variegated Aneuploidy Syndrome 4 |
|
Abnormality of chromosome stability |
OMIM:620153 |
Cold Agglutinin Disease |
|
Splenomegaly, Hemolytic anemia, Pallor |
ORPHA:56425 |
Monosomy 22 |
|
Aplasia of the thymus, Schwannoma, Synophrys, Hepatosplenomegaly, Gonadal neoplasm, High palate, ... |
ORPHA:96123 |
Carney Triad |
|
Gastrointestinal stroma tumor, Leiomyosarcoma, Adrenocortical adenoma, Pheochromocytoma, Paragang... |
ORPHA:139411 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Squamous cell carcinoma of the vulva, Verrucae, Anal canal squamous carcinoma, Squamous cell carc... |
ORPHA:217390 |
Lymphedema-Distichiasis Syndrome |
|
Fibrosarcoma, Distichiasis, Cleft palate |
ORPHA:33001 |
Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... |
ORPHA:231226 |
Self-Improving Dystrophic Epidermolysis Bullosa |
|
Basal cell carcinoma, Nail dystrophy, Cutaneous melanoma, Squamous cell carcinoma |
ORPHA:79411 |
Cowden Syndrome |
|
Hamartomatous polyposis, Neoplasm of the central nervous system, Neoplasm, High palate, Papilloma... |
ORPHA:201 |
Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad... |
ORPHA:231214 |
Retinoblastoma |
|
Glioma, Rhabdomyosarcoma, Lymphoma, Pineoblastoma, Leiomyosarcoma, Cleft palate, Melanoma, Retino... |
ORPHA:790 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Tachycardia, Neutrophilia, Eosinophilia, Splenomegaly,... |
ORPHA:98849 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Erythroid hyperplasia, Decreased mean corpuscular volume, Hypochromia, Anemia |
OMIM:206100 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Intracranial hemorrhage, M... |
ORPHA:3226 |
Eosinophilia, Familial |
|
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia |
OMIM:131400 |
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Epistaxis, Anemia of inadequate production, Acanthocytosis, Poikilocytosis, Congenital thrombocyt... |
OMIM:300367 |
Letterer-Siwe Disease |
|
Hepatosplenomegaly, Anemia, Pallor, Neutropenia, Thrombocytopenia |
OMIM:246400 |
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity |
|
Abnormality of chromosome stability |
OMIM:600546 |
Primary Lateral Sclerosis, Juvenile |
|
Pallor |
OMIM:606353 |
American Trypanosomiasis |
|
Myocarditis, Congestive heart failure, Splenomegaly, Cardiomyopathy, Pallor, Arrhythmia |
ORPHA:3386 |
Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Angiofibromas, Pituitary corticotropic cell adenoma, Pituitary prolactin cel... |
ORPHA:276152 |
Familial Multinodular Goiter |
|
Alveolar rhabdomyosarcoma, Pleuropulmonary blastoma, Pilomatrixoma, Multinodular goiter, Ovarian ... |
ORPHA:276399 |
Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Anemia |
OMIM:613977 |
Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Chromosome breakage, Pancreatic steatosis, Cryptorchidism, Nail dystrophy... |
OMIM:617052 |
Necrobiosis Lipoidica |
|
Squamous cell carcinoma |
ORPHA:542592 |
Familial Focal Epilepsy With Variable Foci |
|
Pallor |
ORPHA:98820 |
Cyclic Vomiting Syndrome |
|
Cardiomyopathy, Pallor |
OMIM:500007 |
Fanconi Anemia, Complementation Group E |
|
Deficient excision of UV-induced pyrimidine dimers in DNA, Cryptorchidism, Leukemia, Chromosomal ... |
OMIM:600901 |
Acute Erythroid Leukemia |
|
Anemia, Erythroid hypoplasia, Pancytopenia, Leukopenia |
ORPHA:318 |
Oral Submucous Fibrosis |
|
Oropharyngeal squamous cell carcinoma |
ORPHA:357154 |
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2 |
|
Increased susceptibility to spontaneous sister chromatid exchange |
OMIM:618097 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Peptic ulcer, Fibroma, Primary h... |
ORPHA:99880 |
Cutaneous Telangiectasia And Cancer Syndrome, Familial |
|
Oropharyngeal squamous cell carcinoma, Alopecia, Yellow nails, Breast carcinoma, Nail dystrophy, ... |
OMIM:614564 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Diffuse leiomyomatosis, Vulvar neoplasm, Tracheobronchial leiomyomatosis, Vaginal neoplasm, Esoph... |
ORPHA:1018 |
Fanconi Anemia, Complementation Group A |
|
Deficient excision of UV-induced pyrimidine dimers in DNA, Cryptorchidism, Leukemia, Chromosomal ... |
OMIM:227650 |
Plummer-Vinson Syndrome |
|
Iron deficiency anemia, Pallor, Hypochromic microcytic anemia |
ORPHA:54028 |
Idiopathic Pulmonary Hemosiderosis |
|
Diffuse alveolar hemorrhage, Heart murmur, Hepatosplenomegaly, Iron deficiency anemia, Pallor |
ORPHA:99931 |
Tuberous Sclerosis 1 |
|
Chordoma, Astrocytoma, Ependymoma, Gingival fibromatosis, Cardiac rhabdomyoma, Renal cell carcino... |
OMIM:191100 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... |
OMIM:202700 |
Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Pallor, Neutropenia, Decreased proportion ... |
ORPHA:101096 |
Hereditary Folate Malabsorption |
|
Pancytopenia, Eosinophilia, Megaloblastic anemia, Pallor, Thrombocytopenia |
ORPHA:90045 |
Epidermodysplasia Verruciformis |
|
Verrucae, Squamous cell carcinoma |
ORPHA:302 |
Parathyroid Carcinoma |
|
Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Peptic ulcer, Fibroma, Primary h... |
ORPHA:143 |
Neurofibromatosis Type 1 |
|
Abnormal hair quantity, Astrocytoma, Cryptorchidism, Chronic myelogenous leukemia, Multiple lipom... |
ORPHA:636 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia |
ORPHA:846 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... |
OMIM:619041 |
Fraxf Syndrome |
|
Folate-dependent fragile site at Xq28 |
ORPHA:100974 |
Nijmegen Breakage Syndrome-Like Disorder |
|
Chromosomal breakage induced by ionizing radiation |
OMIM:613078 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
Hereditary Mixed Polyposis Syndrome |
|
Endometrial carcinoma, Juvenile colonic polyposis, Rectal polyposis, Adenomatous colonic polyposi... |
ORPHA:157794 |
Lhermitte-Duclos Disease |
|
Fibroadenoma of the breast, Ovarian neoplasm, Macroglossia, Trichilemmoma, Neoplasm of the thyroi... |
ORPHA:65285 |
Sepsis In Premature Infants |
|
Tachycardia, Petechiae, Thrombocytopenia, Leukocytosis, Splenomegaly, Bradycardia, Hypotension, N... |
ORPHA:90051 |
Transcobalamin Deficiency |
|
Abnormality of chromosome stability |
ORPHA:859 |
Fragile X Syndrome |
|
Macroorchidism, postpubertal, Folate-dependent fragile site at Xq28, Congenital macroorchidism |
OMIM:300624 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Hepatosp... |
ORPHA:331206 |
Fanconi Anemia, Complementation Group C |
|
Deficient excision of UV-induced pyrimidine dimers in DNA, Cryptorchidism, Leukemia, Chromosomal ... |
OMIM:227645 |
Attrv122I Amyloidosis |
|
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Congestive heart failure, Hy... |
ORPHA:85451 |
Rheumatic Fever |
|
Pericarditis, Epistaxis, Myocarditis, Erythema, Pallor, Arrhythmia |
ORPHA:3099 |
Rhabdomyosarcoma, Embryonal, 1 |
|
Embryonal rhabdomyosarcoma |
OMIM:268210 |
Rhabdomyosarcoma 2 |
|
Alveolar rhabdomyosarcoma |
OMIM:268220 |
Waldenström Macroglobulinemia |
|
Gastrointestinal hemorrhage, Normocytic anemia, Epistaxis, Abnormality of neutrophils, Congestive... |
ORPHA:33226 |
Retinitis Pigmentosa 51 |
|
Pallor |
OMIM:613464 |
Carney Complex |
|
Neoplasm of the stomach, Hepatocellular carcinoma, Thyroid carcinoma, Papillary thyroid carcinoma... |
ORPHA:1359 |
Recessive Dystrophic Epidermolysis Bullosa Inversa |
|
Esophageal stricture, Squamous cell carcinoma, Basal cell carcinoma, Nail dystrophy, Cutaneous me... |
ORPHA:79409 |
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Alopecia, Multinodular goiter, Squamous cell carcinoma, Nail dystrophy, Alopecia of scalp |
OMIM:618373 |
Lynch Syndrome 5 |
|
Neoplasm of the pancreas, Endometrial carcinoma, Hereditary nonpolyposis colorectal carcinoma, Ov... |
OMIM:614350 |
Dyskeratosis Congenita, X-Linked |
|
Acute myeloid leukemia, Oropharyngeal squamous cell carcinoma, Alopecia, Sparse eyelashes, Myelod... |
OMIM:305000 |
Irida Syndrome |
|
Pallor |
ORPHA:209981 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Hematochezia, Anemic pallor, Anemia |
ORPHA:329971 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Pallor, Anemia |
OMIM:246450 |
Cowden Syndrome 6 |
|
Colonic diverticula, Goiter, Fibroadenoma of the breast, Breast carcinoma, Furrowed tongue, Hamar... |
OMIM:615109 |
Turcot Syndrome With Polyposis |
|
Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Neoplasm of the central nervous system, Thyroi... |
ORPHA:99818 |
Xeroderma Pigmentosum, Variant Type |
|
Basal cell carcinoma, Cutaneous melanoma, Squamous cell carcinoma |
OMIM:278750 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Cerebral hemorrhage, Congestive heart failure, Palpitations, Pallor, Positive regitine blocking t... |
ORPHA:276621 |
Idiopathic Aplastic Anemia |
|
Pancytopenia, Epistaxis, Thrombocytopenia, Retinal hemorrhage, Reticulocytopenia, Neutropenia, Ec... |
ORPHA:88 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Splenomegaly, Anemia, Vasculitis in the skin, Petechiae, Purpura |
OMIM:620296 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... |
OMIM:616689 |
Fragile X Syndrome |
|
Macroorchidism, Folate-dependent fragile site at Xq28 |
ORPHA:908 |
Common Variable Immunodeficiency |
|
Elevated hepatic transaminase, Gastrointestinal stroma tumor, Lymphoma, Abnormality of the liver,... |
ORPHA:1572 |
Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Splenomega... |
ORPHA:3202 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... |
OMIM:301083 |
Tuberous Sclerosis Complex |
|
Retinal astrocytic hamartoma, Angiofibromas, Retinal hamartoma, Pancreatic endocrine tumor, Pitui... |
ORPHA:805 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 16 |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:619060 |
Fanconi Anemia, Complementation Group D2 |
|
Cryptorchidism, Esophageal atresia, Annular pancreas, Tracheoesophageal fistula, Deficient excisi... |
OMIM:227646 |
Peripartum Cardiomyopathy |
|
Tachycardia, Right ventricular failure, Cardiogenic shock, Congestive heart failure, Dilated card... |
ORPHA:563 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
Pearson Marrow-Pancreas Syndrome |
|
Sideroblastic anemia, Pancytopenia, Thrombocytopenia, Erythema, Reticulocytopenia, Pallor, Neutro... |
OMIM:557000 |
Orthostatic Hypotension 2 |
|
Orthostatic hypotension, Anemia |
OMIM:618182 |
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form |
|
Basal cell carcinoma, Nail dystrophy, Cutaneous melanoma, Squamous cell carcinoma |
ORPHA:79410 |
Fanconi Anemia, Complementation Group Q |
|
Anteriorly placed anus, Chromosome breakage, Esophageal atresia, Biliary atresia |
OMIM:615272 |
Multiple Endocrine Neoplasia Type 1 |
|
Angiofibromas, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancrea... |
ORPHA:652 |
Recurrent Respiratory Papillomatosis |
|
Squamous cell carcinoma |
ORPHA:60032 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Junctional ecto... |
ORPHA:137675 |
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis |
|
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production |
OMIM:166910 |
Rh Deficiency Syndrome |
|
Hemolytic anemia, Tachycardia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Spherocytosis, H... |
ORPHA:71275 |
Fanconi Anemia, Complementation Group J |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:609054 |
Scleroderma, Familial Progressive |
|
Chromosome breakage, Abnormality of chromosome stability |
OMIM:181750 |
Myopathic Ehlers-Danlos Syndrome |
|
Pallor |
ORPHA:536516 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Anisocytosis, Splenomegaly, Hepatosplenomegaly, Decreased mean corpuscular volume, Erythroid hype... |
OMIM:616860 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Cardiac arrest, Leukocytosis, Dilated cardiomyopathy, Leukopenia, Pallor, Hypotension, Thrombocyt... |
ORPHA:20 |
Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Spontaneous esophageal perforation, Alopecia, Esophageal stricture, Squamous cell carcinoma, Nail... |
OMIM:226600 |
Neutrophilic Dermatosis, Acute Febrile |
|
Dilated cardiomyopathy, Erythema, Pyoderma gangrenosum, Small vessel vasculitis, Anemia |
OMIM:608068 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia |
OMIM:617441 |
Meningioma |
|
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Reduced circulating prolactin conce... |
ORPHA:2495 |
Diamond-Blackfan Anemia 20 |
|
Erythroid hypoplasia, Anemia |
OMIM:618313 |
Dravet Syndrome |
|
Pallor |
ORPHA:33069 |
Kcnq2-Related Epileptic Encephalopathy |
|
Pallor, Facial erythema |
ORPHA:439218 |
Papillon-Lefèvre Syndrome |
|
Liver abscess, Squamous cell carcinoma, Melanoma, Nail dystrophy, Neoplasm of the skin, Sparse bo... |
ORPHA:678 |
Retinitis Pigmentosa 75 |
|
Pallor |
OMIM:617023 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Eosinophilic infiltration of the esophagus, Squamous cell carcinoma |
OMIM:243700 |
Fanconi Anemia, Complementation Group I |
|
Intrauterine growth retardation, Pallor, Neutropenia |
OMIM:609053 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Tachycardia, Pallor |
ORPHA:263455 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Cerebral hemorrhage, Congestive heart failure, Palpitations, Pallor, Positive regitine blocking t... |
ORPHA:29072 |
Radial-Renal Syndrome |
|
Chromosome breakage |
OMIM:179280 |
Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Thrombocytosis, Tricuspid stenosis, Congenital hypoplastic anemia, Congestive ... |
OMIM:105650 |
Pyropoikilocytosis, Hereditary |
|
Pyropoikilocytosis, Hemolytic anemia, Microspherocytosis, Elliptocytosis |
OMIM:266140 |
Beta-Ketothiolase Deficiency |
|
Leukocytosis, Hypertension, Pallor, Hypotension, Thrombocytosis |
ORPHA:134 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
Sparse eyelashes, Trichiasis, Sparse eyebrow, Absent pubic hair, Squamous cell carcinoma, Furrowe... |
OMIM:148210 |
Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten... |
ORPHA:124 |
Opsoclonus-Myoclonus Syndrome |
|
Ovarian teratoma, Small cell lung carcinoma, Breast carcinoma, Neoplasm of the lung, Melanoma, Ne... |
ORPHA:1183 |
Benign Schwannoma |
|
Intestinal polyposis, Schwannoma, Peripheral schwannoma, Scleral schwannoma, Vestibular schwannom... |
ORPHA:252164 |
Sheehan Syndrome |
|
Orthostatic hypotension, Normochromic anemia, Palpitations, Pallor, Bradycardia, Dry skin |
ORPHA:91355 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Sparse scalp hair, Esophageal stricture, Pancolitis, Inflammation of the large intestine, Nail dy... |
OMIM:620133 |
Idiopathic Hypereosinophilic Syndrome |
|
Neutrophilia, Transient ischemic attack, Eosinophilia, Supraventricular arrhythmia, Pulmonary emb... |
ORPHA:3260 |
Neurofibromatosis, Type I |
|
Astrocytoma, Rhabdomyosarcoma, Neurofibroma, Optic nerve glioma, Pheochromocytoma, Meningioma, Pl... |
OMIM:162200 |
Von Hippel-Lindau Disease |
|
Myocardial infarction, Myocarditis, Abnormal left ventricular function, Cardiomyopathy, Hypertens... |
ORPHA:892 |
Fanconi Anemia |
|
Meckel diverticulum, Abnormality of chromosome stability, Aganglionic megacolon, Myelodysplasia, ... |
ORPHA:84 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Macroorchidism, Folate-dependent fragile site at Xq28, Elevated circulating growth hormone concen... |
ORPHA:85327 |
17Q11 Microdeletion Syndrome |
|
Multiple mucosal neuromas, Brain neoplasm, Glioma, Cerebellar glioma, Rhabdomyosarcoma, Myelodysp... |
ORPHA:97685 |
Icf Syndrome |
|
Macroglossia, Abnormality of chromosome stability, Malabsorption, Protruding tongue |
ORPHA:2268 |
Pituitary Apoplexy |
|
Hypertension, Normochromic anemia, Pallor, Hypotension |
ORPHA:95613 |
Adenohypophysitis |
|
Orthostatic hypotension, Pallor, Normochromic anemia |
ORPHA:95512 |
Dermatomyositis |
|
Abnormal hair quantity, Gastrointestinal stroma tumor, Lymphoma, Breast carcinoma, Neoplasm, Lung... |
ORPHA:221 |
Trichothiodystrophy 1, Photosensitive |
|
Intestinal obstruction, Brittle hair, Trichoschisis, Malabsorption, Squamous cell carcinoma, Fine... |
OMIM:601675 |
Cone-Rod Dystrophy 8 |
|
Pallor |
OMIM:605549 |
Fanconi Anemia, Complementation Group B |
|
Esophageal atresia, Abnormality of chromosome stability, Tracheoesophageal fistula, Duodenal atresia |
OMIM:300514 |
Tay-Sachs Disease |
|
Pallor |
OMIM:272800 |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Pallor |
ORPHA:13 |
Legius Syndrome |
|
Acute monocytic leukemia, Non-small cell lung carcinoma, Neurofibroma, Desmoid tumors, Ovarian ne... |
ORPHA:137605 |
Panhypophysitis |
|
Orthostatic hypotension, Pallor, Normochromic anemia |
ORPHA:95513 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Tachycardia, Pallor |
ORPHA:348 |
Cancer-Associated Retinopathy |
|
Neoplasm of the pancreas, Pancreatic adenocarcinoma, Testicular neoplasm, Hematological neoplasm,... |
ORPHA:71505 |
Chromomycosis |
|
Multiple cutaneous malignancies, Squamous cell carcinoma |
ORPHA:182 |
Non-Functioning Pituitary Adenoma |
|
Anemia of inadequate production, Pallor, Hypotension |
ORPHA:91349 |
Chromosome 17Q11.2 Deletion Syndrome, 1.4-Mb |
|
Neurofibroma, Plexiform neurofibroma, Lisch nodules, Neurofibrosarcoma, Subcutaneous neurofibroma... |
OMIM:613675 |
Fanconi Anemia, Complementation Group L |
|
Chromosome breakage, Esophageal atresia, Tracheoesophageal fistula, Cleft palate, Anal atresia, C... |
OMIM:614083 |
Osteogenic Sarcoma |
|
Retinoblastoma, Osteosarcoma |
OMIM:259500 |
Senior-Loken Syndrome 8 |
|
Pallor |
OMIM:616307 |
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion |
|
Duodenal polyposis, Early balding, Adenomatous colonic polyposis, Desmoid tumors, Low posterior h... |
ORPHA:261584 |
Fanconi Anemia, Complementation Group V |
|
Chromosomal breakage induced by crosslinking agents |
OMIM:617243 |
Childhood Absence Epilepsy |
|
Pallor |
ORPHA:64280 |
Fanconi Anemia, Complementation Group R |
|
Anal atresia, Chromosomal breakage induced by crosslinking agents |
OMIM:617244 |
Rothmund-Thomson Syndrome, Type 2 |
|
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Cryptorchidism, ... |
OMIM:268400 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Schwannoma, Ossifying fibroma, High palate, Lisch nodules, Neurofibrosarcoma, Hemangioma, Subcuta... |
ORPHA:363700 |
Cartilage-Hair Hypoplasia |
|
Hepatomegaly, Abnormality of chromosome stability, Aganglionic megacolon, Malabsorption, Sparse e... |
ORPHA:175 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Hypertension, Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia |
OMIM:612924 |
Alternating Hemiplegia Of Childhood |
|
Cardiac conduction abnormality, Cardiomyopathy, Pallor, Abnormal T-wave, Arrhythmia |
ORPHA:2131 |
Revesz Syndrome |
|
Abnormality of chromosome stability, Fine hair, Nail dystrophy, Sparse hair, Oral leukoplakia |
OMIM:268130 |
Fanconi Anemia, Complementation Group F |
|
Cryptorchidism, Decreased response to growth hormone stimulation test, Chromosomal breakage induc... |
OMIM:603467 |
Rothmund-Thomson Syndrome Type 2 |
|
Alopecia totalis, Myelodysplasia, Cryptorchidism, Lymphoma, Cleft palate, Squamous cell carcinoma... |
ORPHA:221016 |
Rothmund-Thomson Syndrome Type 1 |
|
Alopecia totalis, Myelodysplasia, Cryptorchidism, Squamous cell carcinoma, Sparse or absent eyela... |
ORPHA:221008 |
Myopathy, Mitochondrial, And Ataxia |
|
Pallor |
OMIM:617675 |
Incontinentia Pigmenti |
|
Eosinophilia, Leukocytosis, Erythema, Retinal hemorrhage, Pallor |
OMIM:308300 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hemolytic anemia, Myocarditis, Leukocytosis, Thrombocytopenia, Hypertension, Pallor, Hypertensive... |
ORPHA:544482 |
Fumarase Deficiency |
|
Polycythemia, Pallor |
OMIM:606812 |
Fanconi Anemia, Complementation Group U |
|
Chromosome breakage |
OMIM:617247 |
Rothmund-Thomson Syndrome |
|
Sparse eyelashes, Alopecia totalis, Myelodysplasia, Sparse eyebrow, Squamous cell carcinoma, Mela... |
ORPHA:2909 |
Tsh-Secreting Pituitary Adenoma |
|
Supraventricular arrhythmia, Congestive heart failure, Hypertension, Palpitations, Hypotension, P... |
ORPHA:91347 |
Prolactinoma |
|
Pallor, Hypotension |
ORPHA:2965 |
Lambert-Eaton Myasthenic Syndrome |
|
Small cell lung carcinoma, Xerostomia |
ORPHA:43393 |
Degcags Syndrome |
|
Tachycardia, Pancytopenia, Congenital hypoplastic anemia, Hepatosplenomegaly, Pulmonary arterial ... |
OMIM:619488 |
Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Gastritis, B-cell lymphoma, Hepatocellular carcinoma, Fibroadenoma of the breast, T... |
ORPHA:3261 |
Hereditary Acrokeratotic Poikiloderma |
|
Xerostomia, Squamous cell carcinoma, Ankyloglossia, Nail dystrophy, Dystrophic fingernails, Oral ... |
ORPHA:2907 |
Autosomal Recessive Malignant Osteopetrosis |
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Splenomegaly, Pulmonary arterial hypertension, Pallor, Anemia |
ORPHA:667 |
Multiple Endocrine Neoplasia Type 2 |
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Pallor, Palpitations, Hypertensive crisis, Hypertension associated with pheochromocytoma |
ORPHA:653 |
Kindler Epidermolysis Bullosa |
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Esophageal stricture, Neoplasm of the urethra, Squamous cell carcinoma, Inflammation of the large... |
ORPHA:2908 |
Riddle Syndrome |
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Chromosomal breakage induced by ionizing radiation |
ORPHA:420741 |
Esophageal Atresia |
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Pallor |
ORPHA:1199 |
Goodpasture Syndrome |
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Pallor, Anemia, Pulmonary hemorrhage |
OMIM:233450 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
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Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Polycythemia, Fingerpa... |
OMIM:600376 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
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Pallor |
OMIM:253280 |
Congenital Total Pulmonary Venous Return Anomaly |
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Tachycardia, Tricuspid regurgitation, Right ventricular failure, Low-output congestive heart fail... |
ORPHA:99125 |