Athrombia, Essential |
|
Abnormal bleeding, Prolonged bleeding time, Impaired platelet adhesion, Impaired platelet aggrega... |
OMIM:209050 |
Thrombocytopenia 7 |
|
Reduced platelet alpha granules, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Pos... |
OMIM:619130 |
Bleeding Disorder, Platelet-Type, 22 |
|
Impaired platelet aggregation, Subcutaneous hemorrhage, Excessive bleeding from superficial cuts |
OMIM:618462 |
Glanzmann Thrombasthenia 2 |
|
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Decreased platelet glycoprotein IIb-IIIa, ... |
OMIM:619267 |
Von Willebrand Disease, X-Linked Form |
|
Abnormal bleeding, Prolonged bleeding time |
OMIM:314560 |
Platelet Signal Processing Defect |
|
Abnormal bleeding, Epistaxis, Impaired ADP-induced platelet aggregation, Impaired collagen-induce... |
OMIM:173590 |
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Macrothrombocytopenia, Impaired platelet aggregation |
OMIM:613112 |
Bleeding Disorder, Platelet-Type, 24 |
|
Abnormal bleeding, Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platele... |
OMIM:619271 |
Pseudo-Von Willebrand Disease |
|
Prolonged bleeding time, Intermittent thrombocytopenia |
OMIM:177820 |
Bleeding Disorder, Platelet-Type, 18 |
|
Prolonged bleeding time, Epistaxis, Impaired ADP-induced platelet aggregation, Menorrhagia, Bruis... |
OMIM:615888 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal bleeding, Abnormal hemoglobin, Splenomegaly, Anemia, Abnormal platelet function, Thrombo... |
ORPHA:231393 |
Platelet Glycoprotein Iv Deficiency |
|
Abnormal bleeding, Prolonged bleeding time, Giant platelets, Thrombocytopenia |
OMIM:608404 |
Thrombocythemia 1 |
|
Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre... |
OMIM:187950 |
Platelet Responsiveness To Adrenaline, Depressed |
|
Impaired epinephrine-induced platelet aggregation |
OMIM:173580 |
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Macrothrombocytopenia, Post-partum hemorrhage, Menorrhagia, Impaired platelet aggregation, Thromb... |
OMIM:124900 |
Bleeding Disorder, Platelet-Type, 11 |
|
Prolonged bleeding time, Epistaxis, Abnormal platelet count, Menorrhagia, Impaired collagen-induc... |
OMIM:614201 |
Glanzmann Thrombasthenia 1 |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Impaired epinephrine-induced platelet aggre... |
OMIM:273800 |
Bleeding Disorder, Platelet-Type, 16 |
|
Abnormal bleeding, Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosi... |
OMIM:187800 |
Tatsumi Factor Deficiency |
|
Abnormal bleeding, Prolonged bleeding time |
OMIM:272650 |
Bleeding Disorder, Platelet-Type, 8 |
|
Abnormal bleeding, Epistaxis, Prolonged bleeding after surgery, Impaired ADP-induced platelet agg... |
OMIM:609821 |
Glanzmann Thrombasthenia |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Spontaneous, recurrent epistaxis, Purpura, ... |
ORPHA:849 |
Platelet Disorder, Undefined |
|
Abnormal bleeding, Prolonged bleeding time, Impaired platelet aggregation, Thrombocytopenia |
OMIM:173420 |
Bernard-Soulier Syndrome |
|
Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Epistaxis, Prolonged ble... |
OMIM:231200 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Abnormal bleeding, Prolonged bleeding time, Leukocyte inclusion bodies, Epistaxis, Impaired ADP-i... |
OMIM:155100 |
Bleeding Disorder, Platelet-Type, 13, Susceptibility To |
|
Impaired thromboxane A2 agonist-induced platelet aggregation, Ecchymosis, Bruising susceptibility... |
OMIM:614009 |
Von Willebrand Disease, Type 3 |
|
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery, Menorrha... |
OMIM:277480 |
Bleeding Disorder, Platelet-Type, 21 |
|
Abnormal bleeding, Increased mean platelet volume, Impaired ADP-induced platelet aggregation, Men... |
OMIM:617443 |
Quebec Platelet Disorder |
|
Epistaxis, Menorrhagia, Bruising susceptibility, Joint hemorrhage, Thrombocytopenia, Impaired epi... |
OMIM:601709 |
Gray Platelet Syndrome |
|
Abnormal bleeding, Prolonged bleeding time, Impaired thrombin-induced platelet aggregation, Epist... |
OMIM:139090 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Prolonged bleeding time, Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Epi... |
OMIM:314050 |
Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Acute myeloid leukemia, Prolonged bleeding time, Epistaxis, Acute monocytic leukemia, Bruising su... |
OMIM:601399 |
Von Willebrand Disease |
|
Abnormality of thrombocytes, Abnormal platelet function |
ORPHA:903 |
Bleeding Disorder, Platelet-Type, 17 |
|
Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Increased RBC distributi... |
OMIM:187900 |
Bleeding Disorder, Platelet-Type, 12 |
|
Epistaxis, Intestinal bleeding, Menorrhagia, Impaired platelet aggregation, Bruising susceptibili... |
OMIM:605735 |
Bleeding Disorder, Platelet-Type, 14 |
|
Prolonged bleeding time, Ecchymosis, Bruising susceptibility, Epistaxis |
OMIM:614158 |
Storage Pool Platelet Disease |
|
Abnormal bleeding, Prolonged bleeding time, Decreased mean platelet volume, Acute leukemia |
OMIM:185050 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Petechiae, Epistaxis, Increased mean platelet volume, Thrombocytopenia, Splenom... |
OMIM:153670 |
Hermansky-Pudlak Syndrome 7 |
|
Prolonged bleeding time, Epistaxis, Post-partum hemorrhage, Menorrhagia, Impaired platelet aggreg... |
OMIM:614076 |
Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy... |
OMIM:609968 |
Moyamoya Disease With Early-Onset Achalasia |
|
Abnormal platelet aggregation, Thrombocytopenia |
ORPHA:401945 |
Factor V Deficiency |
|
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Menorrhagia, B... |
OMIM:227400 |
Slc35A1-Cdg |
|
Abnormal bleeding, Prolonged bleeding time, Subcutaneous hemorrhage, Giant platelets, Neutropenia... |
ORPHA:238459 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu... |
OMIM:300835 |
Hermansky-Pudlak Syndrome 3 |
|
Abnormal bleeding, Spontaneous, recurrent epistaxis, Gingival bleeding, Bruising susceptibility, ... |
OMIM:614072 |
Thrombocytopenia, Paris-Trousseau Type |
|
Abnormal bleeding, Prolonged bleeding time, Thrombocytopenia |
OMIM:188025 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... |
OMIM:610021 |
Von Willebrand Disease, Type 1 |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery... |
OMIM:193400 |
Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... |
ORPHA:2585 |
Hermansky-Pudlak Syndrome 9 |
|
Leukopenia, Abnormal platelet aggregation, Thrombocytopenia |
OMIM:614171 |
Osteopenia And Sparse Hair |
|
Osteopenia, Sparse hair, Joint laxity |
OMIM:259690 |
Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen... |
ORPHA:263458 |
Griscelli Syndrome, Type 3 |
|
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes |
OMIM:609227 |
Prothrombin Deficiency, Congenital |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Meno... |
OMIM:613679 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
Immunodeficiency 81 |
|
Decreased proportion of CD4-positive T cells, Abnormally low T cell receptor excision circle leve... |
OMIM:619374 |
Congenital Glucokinase-Related Hyperinsulinism |
|
Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Recurrent hypoglycemia, T... |
ORPHA:79299 |
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome |
|
Macular hyperpigmented dermopathy, White forelock, Coarse metaphyseal trabecularization |
ORPHA:2779 |
Myh9-Related Disease |
|
Prolonged bleeding time, Spontaneous, recurrent epistaxis, Increased mean platelet volume, Giant ... |
ORPHA:182050 |
Griscelli Syndrome, Type 1 |
|
Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar... |
OMIM:214450 |
Hermansky-Pudlak Syndrome 5 |
|
Prolonged bleeding time, Absent platelet dense granules, Epistaxis, Impaired ADP-induced platelet... |
OMIM:614074 |
Hypercalcemia, Infantile, 2 |
|
Polyuria, Hypercalcemia, Hypercalciuria, Renal phosphate wasting, Nephrocalcinosis, Hypophosphate... |
OMIM:616963 |
Bernard-Soulier Syndrome |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Impaired ristoc... |
ORPHA:274 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Glycosuria, Focal segmental glomeruloscler... |
OMIM:308990 |
Hypoparathyroidism, Familial Isolated, 2 |
|
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Decreased circulating parathyroid hormone... |
OMIM:618883 |
Hermansky-Pudlak Syndrome 6 |
|
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Impaired ADP-induced platelet aggregation,... |
OMIM:614075 |
Hemophilia B |
|
Prolonged bleeding time, Spontaneous, recurrent epistaxis, Prolonged bleeding after surgery, Join... |
ORPHA:98879 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Reactive hypoglycemia, Fasting hyperinsulinemi... |
ORPHA:35878 |
Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:609975 |
Familial Isolated Hyperparathyroidism |
|
Renal insufficiency, Hyperphosphaturia, Hypercalcemia, Primary hyperparathyroidism, Hypercalciuri... |
ORPHA:99879 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Tachycardia, Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturity-onset diabe... |
ORPHA:324575 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:256450 |
Blue Rubber Bleb Nevus |
|
Prolonged bleeding time, Intestinal bleeding, Microcytic anemia |
ORPHA:1059 |
Pseudohypoparathyroidism, Type Ii |
|
Hypocalcemia, Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism, Hyperphos... |
OMIM:203330 |
Blue Diaper Syndrome |
|
Hypercalcemia, Elevated circulating thyroid-stimulating hormone concentration, Increased proinsul... |
ORPHA:94086 |
Fanconi Renotubular Syndrome 5 |
|
Proteinuria, Stage 5 chronic kidney disease, Hypertension, Glycosuria, Aminoaciduria, Hypophospha... |
OMIM:618913 |
Aplasia Cutis Congenita |
|
Prolonged bleeding time |
ORPHA:1114 |
Albinism, Oculocutaneous, Type Iii |
|
Red hair, Partial albinism, Albinism |
OMIM:203290 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Tachycardia, Maternal diabetes, Increased C-peptide level, Hyperinsulinemia, Hypoglycemic seizure... |
ORPHA:276580 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia |
OMIM:601820 |
Essential Thrombocythemia |
|
Prolonged bleeding time, Abnormality of thrombocytes, Splenomegaly, Abnormal platelet morphology,... |
ORPHA:3318 |
Vitamin D-Dependent Rickets, Type 3 |
|
Elevated circulating parathyroid hormone level, Hypocalcemia, Hypophosphatemia |
OMIM:619073 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Tachycardia, Increased C-peptide level, Hyperinsulinemia, Hypoglycemic seizures, Decreased circul... |
ORPHA:276575 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Abnormality of the pancreatic islet cells, Asymptomatic hyperammonemia, Hypoglycemic seizures, Hy... |
OMIM:606762 |
Hermansky-Pudlak Syndrome 11 |
|
Epistaxis, Reduced platelet dense granules, Menorrhagia, Gingival bleeding, Impaired collagen-ind... |
OMIM:619172 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Dent Disease 2 |
|
Elevated circulating creatine kinase concentration, Chronic kidney disease, Hypercalciuria, Nephr... |
OMIM:300555 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Hypoparathyroidism, Decreased circulating parathyroid hormone level, Nephrocalcinosis, Hyperphosp... |
OMIM:146200 |
Congenital Factor Ii Deficiency |
|
Abnormal bleeding, Epistaxis, Joint hemorrhage, Prolonged bleeding following procedure, Post-part... |
ORPHA:325 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... |
OMIM:620211 |
Bleeding Disorder, Platelet-Type, 15 |
|
Thrombocytopenia, Platelet anisocytosis, Epistaxis, Increased mean platelet volume |
OMIM:615193 |
Sitosterolemia 1 |
|
Abnormal bleeding, Reticulocytosis, Splenomegaly, Giant platelets, Anemia, Stomatocytosis, Episod... |
OMIM:210250 |
Tietz Syndrome |
|
Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e... |
ORPHA:42665 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Renal tubular dysfunction, Hyperinsulinemia, Hypoglycemia, Generalized aminoaciduria |
OMIM:606528 |
Insulinomatosis And Diabetes Mellitus |
|
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... |
OMIM:147630 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Increased circulating osteocalcin level, Hyperphosphaturia, Decreased circulating parathyroid hor... |
ORPHA:157215 |
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive |
|
Pulmonary embolism, Vitreous hemorrhage, Purpura |
OMIM:612304 |
Hypocalcemia, Autosomal Dominant 1 |
|
Decreased circulating parathyroid hormone level, Nephrolithiasis, Hypercalciuria, Nephrocalcinosi... |
OMIM:601198 |
Pseudohypoparathyroidism, Type Ib |
|
Pseudohypoparathyroidism, Elevated circulating parathyroid hormone level, Hyperphosphatemia, Hypo... |
OMIM:603233 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertension, Hypertriglyceridemia, Hyperinsulinemia, Type II diabetes mellitus |
ORPHA:71529 |
Insulin Autoimmune Syndrome |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... |
ORPHA:411593 |
Giant platelet syndrome with thrombocytopenia |
|
Gastrointestinal hemorrhage, Giant platelets, Bruising susceptibility, Prolonged bleeding after d... |
OMIM:137560 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Hypopigmentation of the skin, Hypopigmentation of hair, Osteoporosis, Albinism |
ORPHA:2786 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Prolonged bleeding time, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, I... |
ORPHA:3226 |
Hidrotic Ectodermal Dysplasia |
|
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... |
ORPHA:189 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Renal phosphate wasting, Hyperphosphaturia, Nephrolithiasis, Hypophosphatemia |
OMIM:612287 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hyperphosphaturia, Diabetes mellitus, Hypouricemia, Hypoglycemia, Proteinuria, Nephrocalcinosis, ... |
OMIM:616026 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Hypophosphatemia |
OMIM:241520 |
Pseudohypoparathyroidism Type 2 |
|
Prolonged QT interval, Calcinosis, Pseudohypoparathyroidism, Elevated circulating parathyroid hor... |
ORPHA:94090 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Tachycardia, Reactive hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Fasting ... |
ORPHA:276608 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Tachycardia, Reactive hypoglycemia, Increased C-peptide level, Hypoglycemic seizures, Decreased c... |
ORPHA:276556 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hyperparathyroidism, Hypercalcemia, Renal phosphate wasting, Hypophosphatemic rickets, Elevated c... |
OMIM:612089 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Hyperphosphaturia, Hypercalciuria, Nephrolithiasis, Renal phosphate wasting, Hypophosphatemia |
OMIM:612286 |
Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Parathyroid agenesis, Hypercalciuria, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Congenital... |
ORPHA:2239 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Subcutaneous hemorrhage, Macrothrombocytopenia, Neutropenia, Decreased platelet glycoprotein Ib, ... |
OMIM:603585 |
Fanconi Renotubular Syndrome 2 |
|
Renal insufficiency, Proteinuria, Hypercalciuria, Generalized aminoaciduria, Renal phosphate wast... |
OMIM:613388 |
Cystinosis |
|
Renal insufficiency, Proteinuria, Portal hypertension, Nephrogenic diabetes insipidus, Hypophosph... |
ORPHA:213 |
Fanconi Renotubular Syndrome 1 |
|
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica... |
OMIM:134600 |
Neurofibromatosis-Noonan Syndrome |
|
Prolonged bleeding time |
ORPHA:638 |
Hypophosphatemic Rickets, Autosomal Dominant |
|
Hypophosphatemic rickets, Renal phosphate wasting, Hypophosphatemia |
OMIM:193100 |
Thrombocytopenia 4 |
|
Abnormal platelet volume, Thrombocytopenia |
OMIM:612004 |
Retinopathy Of Prematurity |
|
Vitreous hemorrhage |
ORPHA:90050 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Hyperinsulinemia, Abnormal circulating hormone concentration, Hypertension,... |
ORPHA:280356 |
Uncombable Hair Syndrome |
|
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair |
ORPHA:1410 |
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Iron deficiency anemia, Impaired platelet aggregation |
OMIM:618372 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperglycemia, Hyperinsulinemia, Hyperlipidemia |
ORPHA:329249 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hypertension, Insulin resistance, Diabetes mellitus, Hyperinsulinemia |
ORPHA:79084 |
Waardenburg Syndrome, Type 2F |
|
Hypermelanotic macule, White hair, Blue irides, Premature graying of hair, White forelock, Cafe-a... |
OMIM:619947 |
Fanconi-Bickel Syndrome |
|
Hyperphosphaturia, Diabetes mellitus, Impaired glucose tolerance, Hypertriglyceridemia, Hypercalc... |
ORPHA:2088 |
Colchicine Poisoning |
|
Hyponatremia, Renal insufficiency, Myocarditis, Congestive heart failure, Hypovolemia, Abnormal b... |
ORPHA:31824 |
Wolfram Syndrome 2 |
|
Abnormal bleeding, Decreased circulating antibody level, Impaired collagen-induced platelet aggre... |
OMIM:604928 |
Albinism, Oculocutaneous, Type Ib |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
OMIM:606952 |
Woolly Hair |
|
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... |
ORPHA:170 |
Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Hyperinsulinemia, Cen... |
OMIM:619326 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hypertriglyceridemia, Insulin resistance, Hyperlipidemia, Hyperinsulinemia, Increased serum leptin |
OMIM:617885 |
Factor X Deficiency |
|
Epistaxis, Prolonged bleeding after surgery, Intracranial hemorrhage, Prolonged prothrombin time,... |
OMIM:227600 |
Congenital Factor Vii Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,... |
ORPHA:327 |
Griscelli Syndrome Type 3 |
|
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation |
ORPHA:79478 |
Dilution, Pigmentary |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
OMIM:126070 |
Lipodystrophy, Familial Partial, Type 3 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Maternal diabetes, Insulin resista... |
OMIM:604367 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hypoglycemia, Precocious puberty, Insulin-resistant diabetes mellitus, Long penis, Hyperinsulinem... |
OMIM:262190 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Ketonuria, Elevated circulating growth hormone concentration, Neonatal hypoglycemia, Multiple pan... |
ORPHA:79644 |
Retinal Capillary Malformation |
|
Vitreous hemorrhage, Hyphema |
ORPHA:71213 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Tachycardia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia,... |
OMIM:145600 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Calcium nephrolithiasis, Decreased circulating parathyroid hormone level, Abnormal circulating ca... |
OMIM:241530 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... |
ORPHA:66628 |
Waardenburg Syndrome, Type 2B |
|
Premature graying of hair, White forelock, Heterochromia iridis |
OMIM:600193 |
Hermansky-Pudlak Syndrome 8 |
|
Epistaxis, Excessive bleeding after a venipuncture, Menorrhagia, Gingival bleeding, Excessive ble... |
OMIM:614077 |
Mody |
|
Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu... |
ORPHA:552 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Tachycardia, Proteinuria, Abnormal circulating fatty-acid concentration, Hyperinsulinemia, Renal ... |
ORPHA:263455 |
Griscelli Syndrome, Type 2 |
|
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... |
OMIM:607624 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Renal insufficiency, Hypercalcemia, Parathormone-independent increased renal tubular calcium reab... |
OMIM:600740 |
Insulinoma |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... |
ORPHA:97279 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... |
ORPHA:179494 |
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Renal insufficiency, Elevated circulating creatine kinase concentration, Supraventricular arrhyth... |
OMIM:611773 |
Autoerythrocyte Sensitization Syndrome |
|
Gastrointestinal hemorrhage, Thrombocytosis, Epistaxis, Impaired platelet adhesion, Autoimmune th... |
ORPHA:324636 |
Hermansky-Pudlak Syndrome 2 |
|
Prolonged bleeding time, Absent platelet dense granules, Reduced natural killer cell activity, Sp... |
OMIM:608233 |
Hemorrhagic Fever-Renal Syndrome |
|
Anuria, Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulointerstitial nephritis... |
ORPHA:340 |
Alport Syndrome 3A, Autosomal Dominant |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Stage 5 chronic kidney disease, Nephrocalci... |
OMIM:104200 |
Fanconi-Bickel Syndrome |
|
Hyperphosphaturia, Ketonuria, Hypouricemia, Proteinuria, Hypercalciuria, Generalized aminoaciduri... |
OMIM:227810 |
Dent Disease 1 |
|
Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N... |
OMIM:300009 |
Obesity Due To Sim1 Deficiency |
|
Glucose intolerance, Postural hypotension with compensatory tachycardia, Hyperinsulinemia, Hypote... |
ORPHA:369873 |
Congenital Factor X Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery... |
ORPHA:328 |
Albinism, Oculocutaneous, Type Iv |
|
Hypopigmentation of hair, Blue irides, Albinism |
OMIM:606574 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Hypopigmentation of hair, Partial albinism |
ORPHA:90023 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Renal insufficiency, Chronic kidney disease, Nephrolithiasis, Hypercalciuria, Hypophosphatemia, N... |
OMIM:300554 |
Juvenile Nephropathic Cystinosis |
|
Aminoaciduria, Renal Fanconi syndrome, Hypocalcemia, Low-molecular-weight proteinuria, Hypocalcem... |
ORPHA:411634 |
Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hyperphosphaturia, Hypercalcemia, Polyuria, Primary hyperparathyroidism, Hypercalciur... |
OMIM:239200 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Abnormal circulating calcium concentration, Renal phosphate wasting, Renal tubular dysfunction, E... |
OMIM:307800 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,... |
ORPHA:71526 |
Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Internal hemorrhage, Microcytic anemia |
ORPHA:90308 |
Autoimmune Hypoparathyroidism |
|
Prolonged QT interval, Calcium nephrolithiasis, Autoimmune hypoparathyroidism, Abnormal left vent... |
ORPHA:36913 |
Wiskott-Aldrich Syndrome |
|
Abnormal eosinophil morphology, Microcytic anemia, Intracranial hemorrhage, Hypoplasia of the thy... |
ORPHA:906 |
Hypophosphatemic Bone Disease |
|
Hypophosphatemia |
OMIM:146350 |
Melorheostosis, Isolated |
|
Hyperostosis, Increased bone mineral density |
OMIM:155950 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Hyperphosphaturia, Hypocalcemia, Hypophosphatemia |
ORPHA:89937 |
Body Mass Index Quantitative Trait Locus 20 |
|
Hyperinsulinemia |
OMIM:618406 |
Hypotrichosis 8 |
|
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... |
OMIM:278150 |
Retinitis Pigmentosa |
|
Hypogonadism, Hypoplasia of penis, Hyperinsulinemia, Type II diabetes mellitus |
ORPHA:791 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Hyperinsulinemic hypoglycemia, Diabetes mellitus, Delayed thelarche, Delayed puberty |
OMIM:616033 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Stage 3 chronic kidney disease, Elevated circulating creatine kinase concentration, Hypomagnesemi... |
OMIM:619743 |
Combined Deficiency Of Factor V And Factor Viii |
|
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... |
ORPHA:35909 |
Obesity And Hypopigmentation |
|
Hyperinsulinemia |
OMIM:620195 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Generalized aminoaciduria, Elevated circulating parathyroid hormone level, Hypocalcemia, Secondar... |
OMIM:264700 |
Pseudohypoparathyroidism, Type Ic |
|
Elevated circulating thyroid-stimulating hormone concentration, Pseudohypoparathyroidism, Elevate... |
OMIM:612462 |
Ermine Phenotype |
|
White eyelashes, White eyebrow, Albinism, White hair, Spotty hyperpigmentation, Vitiligo |
OMIM:227010 |
Primary Fanconi Renotubular Syndrome |
|
Low-molecular-weight proteinuria, Hypouricemia, Hypoglycemia, Increased urinary potassium, Chroni... |
ORPHA:3337 |
Wiskott-Aldrich Syndrome |
|
Abnormal delayed hypersensitivity skin test, Iron deficiency anemia, Prolonged bleeding time, Abs... |
OMIM:301000 |
Waardenburg Syndrome, Type 4B |
|
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... |
OMIM:613265 |
Retinoschisis 1, X-Linked, Juvenile |
|
Vitreous hemorrhage |
OMIM:312700 |
Thyrotoxic Periodic Paralysis |
|
Prolonged QT interval, Episodic hypokalemia, Transient hypophosphatemia, Hyperthyroidism, Thyroto... |
ORPHA:79102 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Hypoparathyroidism, Hyperphosphaturia, Hypercalcemia, Hypercalciuria, Nephrocalcinosis, Hypophosp... |
OMIM:156400 |
Linear Verrucous Nevus Syndrome |
|
Hypophosphatemia |
ORPHA:2611 |
Waardenburg Syndrome, Type 2A |
|
White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Premature graying of hair,... |
OMIM:193510 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Nephrolithiasis, Hyperparathyroidism, Hypocalcemia, Hypophosphatemia |
ORPHA:93160 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Abnormal circulating acylcarnitine concentration, Dicarboxylic aciduria, I... |
ORPHA:71212 |
Short Stature, Dauber-Argente Type |
|
Increased insulin like growth factor binding protein acid labile subunit concentration, Fasting h... |
OMIM:619489 |
Dentinogenesis Imperfecta |
|
Prolonged bleeding time, Bruising susceptibility |
ORPHA:49042 |
Kaposiform Lymphangiomatosis |
|
Abnormal bleeding, Epidural hemorrhage, Epistaxis, Subconjunctival hemorrhage, Multiple renal cys... |
ORPHA:464329 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Renal insufficiency, Hypercalcemia, Renal hamartoma, Shortened QT interval, Primary hyperparathyr... |
ORPHA:99880 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Neonatal hypoglycemia, Hypoglycemia, Hypoinsulinemia, Fasting hypoglycemia |
OMIM:240900 |
Uremic Pruritus |
|
Renal hypophosphatemia, Hypercalcemia, Chronic kidney disease, Hypermagnesemia, Stage 5 chronic k... |
ORPHA:94059 |
Galactokinase Deficiency |
|
Hypergonadotropic hypogonadism, Hypoglycemia, Hyperinsulinemia, Increased level of galactitol in ... |
ORPHA:79237 |
Albinism, Oculocutaneous, Type Ii |
|
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig... |
OMIM:203200 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Hypopigmentation of hair, Generalized hyperpigmentation |
ORPHA:1355 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Elevated circulating creatine kinase concentration, Abnormal left ventricula... |
ORPHA:99827 |
Parathyroid Carcinoma |
|
Renal insufficiency, Hypercalcemia, Renal hamartoma, Shortened QT interval, Primary hyperparathyr... |
ORPHA:143 |
Pseudopseudohypoparathyroidism |
|
Abnormality of the endocrine system, Hypocalcemia, Elevated circulating parathyroid hormone level... |
ORPHA:79445 |
Refractory Celiac Disease |
|
Hypomagnesemia, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia |
ORPHA:398063 |
Insulin-Resistance Syndrome Type B |
|
Fasting hyperinsulinemia, Glucose intolerance, Hypoalbuminemia, Fasting hypoglycemia, Hyperglycem... |
ORPHA:2298 |
Oculocutaneous Albinism, Type Viii |
|
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:619165 |
Waardenburg Syndrome Type 2 |
|
Hypopigmentation of hair, Hypopigmented skin patches, Premature graying of hair, White forelock, ... |
ORPHA:895 |
Dent Disease |
|
Renal insufficiency, Hyperphosphaturia, Renal hypophosphatemia, Elevated circulating creatine kin... |
ORPHA:1652 |
Hermansky-Pudlak Syndrome 1 |
|
Prolonged bleeding time, Epistaxis, Hematochezia, Gingival bleeding, Ecchymosis, Bruising suscept... |
OMIM:203300 |
Lujo Hemorrhagic Fever |
|
Shock, Renal insufficiency, Elevated circulating C-reactive protein concentration, Excessive blee... |
ORPHA:319213 |
Perlman Syndrome |
|
Hypoplasia of penis, Hyperinsulinemia |
ORPHA:2849 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Peripheral retinal neovascularization, Vitreous hemorrhage, Posterior retinal neovascularization |
OMIM:193235 |
Mccune-Albright Syndrome |
|
Hyperphosphaturia, Hyperthyroidism, Elevated circulating growth hormone concentration, Precocious... |
ORPHA:562 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Generalized aminoaciduria, Elevated circulating parathyroid hormone level, Hypocalcemia, Secondar... |
ORPHA:289157 |
Vitamin D-Dependent Rickets, Type 2A |
|
Hypocalcemic seizures, Elevated circulating parathyroid hormone level, Secondary hyperparathyroid... |
OMIM:277440 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hypertension, Insulin resistance, Hypertriglyceridemia, Hyperinsulinemia |
ORPHA:363400 |
Neuroectodermal Melanolysosomal Disease |
|
Premature graying of hair, Hypopigmentation of hair, Generalized hyperpigmentation, Hypopigmentat... |
ORPHA:33445 |
Mpi-Cdg |
|
Gastrointestinal hemorrhage, Portal hypertension, Hypoalbuminemia, Hyperinsulinemic hypoglycemia,... |
ORPHA:79319 |
Malignant Hyperthermia, Susceptibility To, 2 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154275 |
Dopamine Beta-Hydroxylase Deficiency |
|
Abnormal EKG, Orthostatic hypotension, Hypoglycemia, Insulin resistance, Elevated urinary dopamin... |
ORPHA:230 |
Genetic Recurrent Myoglobinuria |
|
Dark urine, Renal insufficiency, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Hyperka... |
ORPHA:99845 |
Marburg Hemorrhagic Fever |
|
Elevated circulating creatine kinase concentration, Hypoalbuminemia, Internal hemorrhage, Abnorma... |
ORPHA:99826 |
Estrogen Resistance |
|
Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ... |
OMIM:615363 |
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency |
|
Abnormal bleeding, Prolonged prothrombin time, Epistaxis |
OMIM:610842 |
Hereditary Fructose Intolerance |
|
Renal insufficiency, Reactive hypoglycemia, Chronic kidney disease, Hypermagnesemia, Hyperuricemi... |
ORPHA:469 |
Elejalde Neuroectodermal Melanolysosomal Syndrome |
|
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... |
OMIM:256710 |
Infantile Nephropathic Cystinosis |
|
Hyperphosphaturia, Abnormality of thyroid physiology, Abnormal blood ion concentration, Renal tub... |
ORPHA:411629 |
Piebald Trait-Neurologic Defects Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Hypopigmented... |
ORPHA:2885 |
Woolly Hair Nevus |
|
Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o... |
ORPHA:79414 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Hypocalcemia, Hypophosphatemia |
OMIM:600081 |
Mgat2-Cdg |
|
Abnormal bleeding, Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulat... |
ORPHA:79329 |
Transient Neonatal Diabetes Mellitus |
|
Maternal diabetes, Maturity-onset diabetes of the young, Transient neonatal diabetes mellitus, Di... |
ORPHA:99886 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hyperinsulinemia, Hypergonadotropic hypogonadism, Type II diabetes mellitus |
ORPHA:3085 |
Congenital Generalized Lipodystrophy |
|
Diabetes mellitus, Precocious puberty in females, Hypertriglyceridemia, Congestive heart failure,... |
ORPHA:528 |
Malignant Hyperthermia, Susceptibility To, 3 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154276 |
Fructose Intolerance, Hereditary |
|
Gastrointestinal hemorrhage, Transient aminoaciduria, Hyperphosphaturia, Hypoglycemia, Bicarbonat... |
OMIM:229600 |
Cystinosis, Nephropathic |
|
Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Hypophosphatemic rickets... |
OMIM:219800 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Gastrointestinal hemorrhage, Cerebral hemorrhage, Diffuse alveolar hemorrhage, Hematemesis, Retin... |
ORPHA:464321 |
Alstrom Syndrome |
|
Decreased HDL cholesterol concentration, Renal insufficiency, Hypertriglyceridemia, Hypergonadotr... |
OMIM:203800 |
Familial Hypocalciuric Hypercalcemia |
|
Hypomagnesiuria, Renal hypophosphatemia, Hypercalcemia, Parathormone-independent increased renal ... |
ORPHA:405 |
Oculocutaneous Albinism Type 3 |
|
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener... |
ORPHA:79433 |
Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Abnormal platelet count, Abnormal... |
OMIM:612690 |
Pseudohypoparathyroidism, Type Ia |
|
Pseudohypoparathyroidism, Elevated circulating parathyroid hormone level, Hypogonadism, Hyperphos... |
OMIM:103580 |
Oncogenic Osteomalacia |
|
Renal phosphate wasting, Hyperphosphaturia, Hypocalcemia, Hypophosphatemia |
ORPHA:352540 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Parathyroid hyperplasia, Elevated circulating parathyroid hormone level, Hypercalcemia, Hyperphos... |
OMIM:617994 |
Chédiak-Higashi Syndrome |
|
Abnormal bleeding, Abnormal leukocyte morphology, Pancytopenia, Epistaxis, Splenomegaly, Vacuolat... |
ORPHA:167 |
Waardenburg-Shah Syndrome |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Abnormal eyebrow morphology, White... |
ORPHA:897 |
Mixed Connective Tissue Disease |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Hemolytic anemia, Splenomegaly, Leukopenia,... |
ORPHA:809 |
Familial Acute Necrotizing Encephalopathy |
|
Choroid hemorrhage |
ORPHA:88619 |
Bangstad Syndrome |
|
Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cortisol level, Pri... |
ORPHA:1227 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Abnormal bleeding, Renal cyst, Proximal tubulopathy, Hypoalbuminemia, Hyperinsulinemic hypoglycemia |
OMIM:602579 |
Calciphylaxis |
|
Hyperphosphatemia, Stage 5 chronic kidney disease, Secondary hyperparathyroidism |
ORPHA:280062 |
Thrombocytopenia 3 |
|
Thrombocytopenia, Epistaxis, Petechiae, Decreased mean platelet volume |
OMIM:273900 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Decreased response to growth hormone stimulation test, Decreased circulating parathyroid hormone ... |
OMIM:241410 |
Pseudohypoparathyroidism Type 1B |
|
Prolonged QT interval, Calcinosis, Decreased response to growth hormone stimulation test, Pseudoh... |
ORPHA:94089 |
Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... |
ORPHA:276152 |
Osteogenesis Imperfecta, Type Xvi |
|
Prolonged bleeding time, Bruising susceptibility |
OMIM:616229 |
Acquired Generalized Lipodystrophy |
|
Hypertriglyceridemia, Proteinuria, Insulin-resistant diabetes mellitus, Insulin resistance, Abnor... |
ORPHA:79086 |
Waardenburg Syndrome, Type 4A |
|
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... |
OMIM:277580 |
Pearson Syndrome |
|
Hypoparathyroidism, Renal insufficiency, Diabetes mellitus, Proteinuria, Decreased response to gr... |
ORPHA:699 |
Fibrous Dysplasia Of Bone |
|
Hyperthyroidism, Precocious puberty in females, Diabetes mellitus, Elevated circulating growth ho... |
ORPHA:249 |
Estrogen Resistance Syndrome |
|
Increased circulating gonadotropin level, Absence of secondary sex characteristics, Hyperinsuline... |
ORPHA:785 |
Donohue Syndrome |
|
Precocious puberty, Long penis, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Fasting hypo... |
OMIM:246200 |
Acquired Purpura Fulminans |
|
Intracranial hemorrhage, Prolonged prothrombin time, Macular purpura, Internal hemorrhage, Thromb... |
ORPHA:49566 |
Familial Renal Glucosuria |
|
Elevated hemoglobin A1c, Insulin resistance, Abnormal circulating insulin concentration, Renal tu... |
ORPHA:69076 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Nonketotic hypoglycemia, Increased circulating free fatty acid level, Abnormal circulating insuli... |
ORPHA:293964 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Calcinosis, Increased renal tubular phosphate reabsorption, Decreased renal tubular phosphate exc... |
OMIM:211900 |
Rabson-Mendenhall Syndrome |
|
Increased pineal volume, Impaired glucose tolerance, Precocious puberty, Insulin resistance, Fast... |
ORPHA:769 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Obesity, Iris hypopigmentation |
ORPHA:177910 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Hypopigmentation of hair, Cafe-au-lait spot, Hypopigmentation of the skin, Osteopetrosis |
OMIM:618541 |
Exudative Vitreoretinopathy 4 |
|
Vitreous hemorrhage |
OMIM:601813 |
Autosomal Dominant Hypocalcemia |
|
Congestive heart failure, Hypercalciuria, Nephrocalcinosis, Hyperphosphatemia, Hypocalcemia, Hypo... |
ORPHA:428 |
Waardenburg Syndrome Type 1 |
|
Hypopigmentation of hair, White eyelashes, White eyebrow, Abnormal hair morphology, Synophrys, Wh... |
ORPHA:894 |
Neuroleptic Malignant Syndrome |
|
Hyponatremia, Tachycardia, Proteinuria, Elevated circulating creatine kinase concentration, Urina... |
ORPHA:94093 |
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 |
|
Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Prolonged prothrombin time, Ecchymosis, Bruisi... |
OMIM:277450 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Blue irides, Advanced ossification of carpal bones, Obesity, Red hair, Fair hair |
OMIM:614613 |
Malignant Hyperthermia Of Anesthesia |
|
High-output congestive heart failure, Myoglobinuria, Ventricular tachycardia, Hyperkalemia, Prema... |
ORPHA:423 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Tricuspid regurgitation, Myocardial infarction, Congestive heart failure, Nephrocalcinosis, Hyper... |
OMIM:614473 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Elevated circulating C-reactive protein concentration, Vasculitis, Hematochezia, Subconjunctival ... |
OMIM:617718 |
Acquired Von Willebrand Syndrome |
|
Gastrointestinal hemorrhage, Normocytic anemia, Refractory anemia, Epistaxis, Intracranial hemorr... |
ORPHA:99147 |
Piebaldism |
|
Hypopigmentation of hair, White eyelashes, White eyebrow, Synophrys, Piebaldism, Hypopigmented sk... |
ORPHA:2884 |
Eales Disease |
|
Peripheral retinal neovascularization, Transient ischemic attack, Epistaxis, Vitreous hemorrhage,... |
ORPHA:40923 |
Congenital Fibrinogen Deficiency |
|
Abnormal bleeding, Internal hemorrhage, Splenic rupture, Prolonged prothrombin time, Gingival ble... |
ORPHA:335 |
Mandibuloacral Dysplasia |
|
Hypertriglyceridemia, Increased circulating free fatty acid level, Insulin resistance, Insulin-re... |
ORPHA:2457 |
Macs Syndrome |
|
Prolonged bleeding time, Bruising susceptibility |
OMIM:613075 |
Muenke Syndrome |
|
Hypopigmentation of hair, Tarsal synostosis, Hypermelanotic macule, Hypopigmented skin patches, C... |
ORPHA:53271 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyponatremia, Hypercalciuria, Hyperparathyroidism, Renal insufficiency, Proteinuria, Hypoammonemi... |
ORPHA:534 |
Oculocutaneous Albinism Type 4 |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin... |
ORPHA:79435 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Insulin-resistant diabetes mellitus, Hyperlipidemia, Hyperinsulinemia, Stage 5 chronic kidney dis... |
OMIM:608612 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Hyperinsulinemia |
ORPHA:66518 |
Acquired Hypertrichosis Lanuginosa |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Weight loss, Fine hair, Generalized hirsutism |
ORPHA:2221 |
Relapsing Fever |
|
Abnormal bleeding, Neutrophilia, Epistaxis, Leukocytosis, Anemia, Leukopenia, Prolonged prothromb... |
ORPHA:91547 |
Vogt-Koyanagi-Harada Disease |
|
Abnormal eyebrow morphology, Sparse scalp hair, Poliosis, Abnormal eyelash morphology, Hypopigmen... |
ORPHA:3437 |
Dermatosparaxis Ehlers-Danlos Syndrome |
|
Prolonged bleeding time |
ORPHA:1901 |
Thrombocytopenia 1 |
|
Epistaxis, Increased circulating IgA level, Increased circulating IgE level, Decreased mean plate... |
OMIM:313900 |
Opsismodysplasia |
|
Renal phosphate wasting, Hypophosphatemia |
OMIM:258480 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Alopecia, Hypopigmentation of hair |
ORPHA:1067 |
Pseudohypoparathyroidism Type 1C |
|
Prolonged QT interval, Calcinosis, Hypergonadotropic hypogonadism, Decreased response to growth h... |
ORPHA:79444 |
Leptospirosis |
|
Pericarditis, First degree atrioventricular block, Cellular urinary casts, Retinal hemorrhage, Su... |
ORPHA:509 |
Exudative Vitreoretinopathy 1 |
|
Vitreous hemorrhage, Retinal neovascularization |
OMIM:133780 |
X-Linked Acrogigantism |
|
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Diabetes insipidus, Elevat... |
ORPHA:300373 |
Kenny-Caffey Syndrome, Type 2 |
|
Hypoparathyroidism, Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia |
OMIM:127000 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Obesity, Iris hypopigmentation |
ORPHA:411515 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Prolonged QT interval, Tachycardia, Atrial fibrillation, Hypertriglyceridemia, Elevated circulati... |
OMIM:613327 |
Raine Syndrome |
|
Hydroureter, Hydronephrosis, Hypophosphatemia |
OMIM:259775 |
Vitreoretinochoroidopathy |
|
Vitreous hemorrhage, Retinal neovascularization |
OMIM:193220 |
Atelis Syndrome 2 |
|
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, Supravalvar pul... |
OMIM:620185 |
Familial Exudative Vitreoretinopathy |
|
Vitreous hemorrhage, Macular telangiectasia, Retinal neovascularization |
ORPHA:891 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Unilateral renal agenesis, Elevated circulating thyroid-stimulating hormone concentration, Congen... |
OMIM:101800 |
Sanjad-Sakati Syndrome |
|
Hypoparathyroidism, Hypoplasia of penis, Hyperphosphatemia, Hypocalcemia, Congenital hypoparathyr... |
ORPHA:2323 |
Polyendocrine-Polyneuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Decreased circulating... |
ORPHA:453533 |
Leprechaunism |
|
Insulin resistance, Long penis, Hyperinsulinemia, Hypercalciuria, Central hypothyroidism, Nephroc... |
ORPHA:508 |
Retinal Arteries, Tortuosity Of |
|
Retinal hemorrhage |
OMIM:180000 |
Pseudohypoparathyroidism Type 1A |
|
Prolonged QT interval, Calcinosis, Hypergonadotropic hypogonadism, Decreased response to growth h... |
ORPHA:79443 |
Uveal Melanoma |
|
Vitreous hemorrhage |
ORPHA:39044 |
Woodhouse-Sakati Syndrome |
|
Streak ovary, Decreased response to growth hormone stimulation test, Insulin-resistant diabetes m... |
ORPHA:3464 |
Lipodystrophy, Familial Partial, Type 2 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin-resistant diabetes mellitu... |
OMIM:151660 |
Hepatoportal Sclerosis |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Hypersplenism, Splenomegaly, Anemia, Leukopenia, ... |
ORPHA:64743 |
Juvenile Xanthogranuloma |
|
Hyphema |
ORPHA:158000 |
Oculocutaneous Albinism Type 2 |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab... |
ORPHA:79432 |
Piebald Trait |
|
Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, White forelock, Heterochr... |
OMIM:172800 |
Oculocutaneous Albinism Type 1 |
|
White eyelashes, Iris hypopigmentation, White eyebrow, Blue irides, Iris transillumination defect... |
ORPHA:352731 |
Ataxia-Telangiectasia |
|
Premature graying of hair, Hypopigmentation of hair, Failure to thrive, Multiple cafe-au-lait spots |
ORPHA:100 |
Persistent Hyperplastic Primary Vitreous |
|
Hemorrhage of the eye |
ORPHA:91495 |
Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov... |
OMIM:264800 |
Brittle Cornea Syndrome |
|
Osteoporosis, Abnormality of hair pigmentation, Corneal scarring, Increased susceptibility to fra... |
ORPHA:90354 |
Infantile Liver Failure Syndrome 2 |
|
Prolonged prothrombin time |
OMIM:616483 |
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Gastrointestinal hemorrhage, Proteinuria, Raynaud phenomenon, Punctate vasculitis skin lesions, R... |
OMIM:192315 |
Noonan Syndrome |
|
Abnormal bleeding, Abnormality of the spleen, Abnormal platelet function |
ORPHA:648 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Increased urine deoxypyridinoline level, Hydroxyprolinemia, Hypercalciuria, Hyperphosphatemia, Hy... |
OMIM:239000 |
Leukocyte Adhesion Deficiency |
|
Abnormal bleeding, Acute myeloid leukemia, Polycythemia, Leukocytosis, Bone marrow hypocellularit... |
ORPHA:2968 |
Kasabach-Merritt Syndrome |
|
Reticulocytosis, Petechiae, Anemia, Leukopenia, Prolonged prothrombin time, Microangiopathic hemo... |
ORPHA:2330 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Hyperphosphaturia, Abnormality of renal excretion, Renal hypophosphatemia, Renal phosphate wastin... |
ORPHA:289176 |
Retinoblastoma |
|
Vitreous hemorrhage, Hyphema, Subretinal pigment epithelium hemorrhage |
ORPHA:790 |
Squalene Synthase Deficiency |
|
Elbow flexion contracture, Abnormality of hair pigmentation, Failure to thrive in infancy, Knee f... |
OMIM:618156 |
Lethal Congenital Contracture Syndrome 5 |
|
Subdural hemorrhage, Retinal hemorrhage, Elevated circulating creatine kinase concentration |
OMIM:615368 |
Oculocutaneous Albinism Type 1B |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck... |
ORPHA:79434 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Calcinosis, Impaired glucose tolerance, Insulin-resistant diabetes mellitus, Hyperlipidemia, Hype... |
OMIM:248370 |
Fundus Dystrophy, Pseudoinflammatory, Recessive Form |
|
Retinal hemorrhage |
OMIM:264420 |
Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Angina pectoris, Telangiectasia of the skin, Sudden cardiac death, R... |
ORPHA:758 |
Exercise-Induced Malignant Hyperthermia |
|
Abnormal bleeding, Prolonged QT interval, Acute kidney injury, Elevated circulating creatine kina... |
ORPHA:466650 |
Proprotein Convertase 1/3 Deficiency |
|
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Hypoinsulinemia, Reactive hy... |
OMIM:600955 |
Solitary Fibrous Tumor |
|
Hypoglycemia, Reduced C-peptide level, Recurrent hypoglycemia, Urinary retention, Hypophosphatemi... |
ORPHA:2126 |
Autosomal Recessive Malignant Osteopetrosis |
|
Pulmonary arterial hypertension, Bruising susceptibility, Hypocalcemia, Hypophosphatemia |
ORPHA:667 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Hyphema |
OMIM:221900 |
Refractory Anemia With Excess Blasts |
|
Abnormal bleeding, Abnormal circulating protein concentration, Abnormal circulating albumin conce... |
ORPHA:86839 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Hypopigmentation of hair, Failure to thrive |
ORPHA:70472 |
Brittle Cornea Syndrome 1 |
|
Joint laxity, Red hair, Dentinogenesis imperfecta, Atypical scarring of skin |
OMIM:229200 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Diabetes mellitus, Hypertriglyceridemia, Decreased serum leptin, Hyperinsulinemia, Nephrolithiasi... |
OMIM:608594 |
Macular Degeneration, Age-Related, 1 |
|
Macular hemorrhage |
OMIM:603075 |
Griscelli Syndrome Type 2 |
|
Premature graying of hair, Hypopigmentation of hair, Partial albinism, Iris hypopigmentation |
ORPHA:79477 |
Bartter Syndrome, Type 2, Antenatal |
|
Impaired platelet aggregation |
OMIM:241200 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Hypertriglyceridemia, Elevated hemoglobin A1c, Decreased serum leptin, Hyperinsulinemia, Nephroli... |
OMIM:269700 |
Prader-Willi Syndrome |
|
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Precocious ... |
OMIM:176270 |
Idiopathic Aplastic Anemia |
|
Retinal hemorrhage, Ecchymosis, Epistaxis, Gingival bleeding |
ORPHA:88 |
X-Linked Hypophosphatemia |
|
Renal phosphate wasting, Hypocalciuria, Hypophosphatemia |
ORPHA:89936 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Inguinal hernia, White hair, Fine hair, Reduced bone mineral density |
ORPHA:935 |
Cog8-Cdg |
|
Spontaneous hematomas, Prolonged prothrombin time |
ORPHA:95428 |
Waardenburg Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Synophrys, Hypopigmented skin patches, Abn... |
ORPHA:3440 |
Hellp Syndrome |
|
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Cerebral hemorrhage, Prolo... |
ORPHA:244242 |
Ermine Phenotype |
|
Hypopigmentation of hair, Ocular albinism, Hypopigmented skin patches, Irregular hyperpigmentatio... |
ORPHA:999 |
Noonan Syndrome 9 |
|
Prolonged prothrombin time |
OMIM:616559 |
Oculocutaneous Albinism Type 1A |
|
Hypopigmentation of hair, Albinism, Ocular albinism, Freckling, Hypopigmentation of the skin, Iri... |
ORPHA:79431 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Hyperphosphatemia, Hypocalcemic tetany, Congenital hypoparathyroidism, Abnormal circulating folli... |
ORPHA:93325 |
Albinism, Oculocutaneous, Type Ia |
|
Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb... |
OMIM:203100 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Pancytopenia, Reduced natural killer cell activity, Splenomegaly, Hepatosplenomegaly, Anemia, Leu... |
OMIM:603553 |
Atypical Werner Syndrome |
|
Diabetes mellitus, Telangiectasia of the skin, Hypertriglyceridemia, Abnormal circulating leptin ... |
ORPHA:79474 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Hematochezia, Prolonged prothrombin time |
OMIM:214950 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Thrombocytopenia, Splenomegaly, Leukopenia, Prolonged prothrombin time, Hemophagocytosis, Anemia |
OMIM:267700 |
Waldenström Macroglobulinemia |
|
Gastrointestinal hemorrhage, Renal insufficiency, Epistaxis, Congestive heart failure, Vasculitis... |
ORPHA:33226 |
Menkes Disease |
|
Hypopigmentation of hair, Osteomyelitis, Inguinal hernia, Tarsal synostosis, Recurrent fractures,... |
ORPHA:565 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Osteopenia, Hypopigmentation of hair, Osteoporosis, Obesity, Abdominal obesity, Failure to thrive... |
ORPHA:398079 |
Hoyeraal-Hreidarsson Syndrome |
|
Sparse scalp hair, Generalized hyperpigmentation, Premature graying of hair, Nail dystrophy, Gene... |
ORPHA:3322 |
Steinert Myotonic Dystrophy |
|
Atrial fibrillation, Prolonged QRS complex, Left ventricular systolic dysfunction, Cardiac conduc... |
ORPHA:273 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Gastrointestinal hemorrhage, Angina pectoris, Retinal hemorrhage, Cerebral hemorrhage |
OMIM:177850 |
Phacoanaphylactic Uveitis |
|
Hyphema, Retinal arteritis |
ORPHA:209959 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Thrombocytopenia, Cerebellar hemorrhage, Prolonged prothrombin time |
ORPHA:99901 |
Infantile Liver Failure Syndrome 3 |
|
Splenomegaly, Prolonged prothrombin time |
OMIM:618641 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Glutaric aciduria, Chronic kidney disease, Subdural hemorrhage, Retinal hemorrhage, Fasting hypog... |
ORPHA:25 |
Carney Complex, Type 1 |
|
Multiple lentigines, Red hair, Freckling, Profuse pigmented skin lesions, Hirsutism |
OMIM:160980 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Hypopigmentation of hair, Hypopigmented skin patches, Multiple cafe-au-lait spots, Freckling, Hyp... |
ORPHA:3214 |
Shwachman-Diamond Syndrome 2 |
|
Normocytic anemia, Prolonged prothrombin time, Thrombocytopenia, Neutropenia |
OMIM:617941 |
Angelman Syndrome Due To A Point Mutation |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Obesity, Iris hypopigmentation |
ORPHA:411511 |
Hypohidrotic Ectodermal Dysplasia |
|
Abnormal hair quantity, Slow-growing hair, Aplasia/Hypoplasia of the eyebrow, Breast aplasia, Gen... |
ORPHA:238468 |
Classic Phenylketonuria |
|
Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:79254 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Osteopenia, Hypopigmentation of hair, Flexion contracture, Osteoporosis, Increased body weight, A... |
ORPHA:398069 |
3-Methylglutaconic Aciduria, Type Viib |
|
Abnormal bleeding, Leukopenia, Prolonged prothrombin time, Neutropenia, Thrombocytopenia |
OMIM:616271 |
Tenorio Syndrome |
|
Hypoglycemia, Raynaud phenomenon, Enuresis, Syncope, Hypoinsulinemia |
OMIM:616260 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Prolonged prothrombin time |
OMIM:617049 |
Central Retinal Vein Occlusion |
|
Intraretinal hemorrhage, Retinal neovascularization |
ORPHA:411527 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Limitation of movement at ankles, Hypopigmentation of hair, Obesity, Hypopigmentation of the skin... |
ORPHA:98794 |
Sialuria |
|
Prolonged prothrombin time, Hepatosplenomegaly |
ORPHA:3166 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hematochezia, Splenomegaly, Prolonged prothrombin time |
OMIM:613812 |
Liver Failure, Infantile, Transient |
|
Prolonged prothrombin time, Decreased circulating IgG level |
OMIM:613070 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Osteopenia, Hypopigmentation of hair, Small for gestational age, Osteoporosis, Obesity, Failure t... |
ORPHA:98754 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Prolonged prothrombin time, Extramedullary hematopoiesis |
ORPHA:79303 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Osteopenia, Hypopigmentation of hair, Small for gestational age, Osteoporosis, Obesity, Failure t... |
ORPHA:98793 |
Celiac Disease, Susceptibility To, 1 |
|
Macrocytic anemia, Iron deficiency anemia, Prolonged prothrombin time, Thrombocytosis, Decreased ... |
OMIM:212750 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Osteopenia, Hypopigmentation of hair, Small for gestational age, Osteoporosis, Obesity, Failure t... |
ORPHA:177904 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:98795 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Osteopenia, Hypopigmentation of hair, Small for gestational age, Osteoporosis, Obesity, Failure t... |
ORPHA:177901 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... |
ORPHA:91500 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Red hair, Obesity |
OMIM:609734 |
Waardenburg Syndrome, Type 4C |
|
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... |
OMIM:613266 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Prolonged prothrombin time |
OMIM:614300 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Hyphema, Micropenis, Duplication... |
ORPHA:261552 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Prolonged prothrombin time, Hepatosplenomegaly |
ORPHA:367 |
Prader-Willi Syndrome |
|
Osteopenia, Hypopigmentation of hair, Osteoporosis, Increased susceptibility to fractures, Abdomi... |
ORPHA:739 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Prolonged QT interval, Myocardial infarction, High urinary gonadotropin level, Ectopic kidney, In... |
ORPHA:99413 |
Turner Syndrome |
|
Prolonged QT interval, Myocardial infarction, High urinary gonadotropin level, Ectopic kidney, In... |
ORPHA:881 |
Mosaic Monosomy X |
|
Prolonged QT interval, Myocardial infarction, High urinary gonadotropin level, Ectopic kidney, In... |
ORPHA:99228 |
Monosomy X |
|
Prolonged QT interval, Myocardial infarction, High urinary gonadotropin level, Ectopic kidney, In... |
ORPHA:99226 |
Liver Disease, Severe Congenital |
|
Hyponatremia, Hypospadias, Elevated circulating alpha-fetoprotein concentration, Abnormal circula... |
OMIM:619991 |
Classical Ehlers-Danlos Syndrome |
|
Ecchymosis, Prolonged bleeding time, Bruising susceptibility |
ORPHA:287 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Hypopigmentation of hair, Abnormal dental enamel morphology, Abnormality of hai... |
ORPHA:96169 |
Cardiac-Urogenital Syndrome |
|
Accessory spleen, Prolonged bleeding time |
OMIM:618280 |
Rift Valley Fever |
|
Abnormal bleeding, Hematemesis, Retinal hemorrhage, Melena, Hematuria, Gingival bleeding |
ORPHA:319251 |
Monosomy 13Q34 |
|
Hematochezia, Prolonged prothrombin time, Epistaxis |
ORPHA:96168 |
Familial Drusen |
|
Macular hemorrhage |
ORPHA:75376 |
Hermansky-Pudlak Syndrome |
|
Hypopigmentation of hair, Partial albinism, Abnormal dental enamel morphology, Ocular albinism, M... |
ORPHA:79430 |
Cockayne Syndrome Type 3 |
|
Renal insufficiency, Neurogenic bladder, Hydroureter, Unilateral renal agenesis, Subdural hemorrh... |
ORPHA:90324 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Leukocytosis, Leukopenia, Prolonged prothrombin time, Thrombocytosis, Anemia |
ORPHA:20 |
Syndromic Diarrhea |
|
Hypopigmentation of hair, Brittle hair, Small for gestational age, Inguinal hernia, Uncombable ha... |
ORPHA:84064 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Hypopigmented skin patches, Premature gray... |
ORPHA:163746 |
Chediak-Higashi Syndrome |
|
Hypopigmentation of hair, Silver-gray hair, Ocular albinism, Giant melanosomes in melanocytes, Hy... |
OMIM:214500 |
Retinoblastoma |
|
Vitreous hemorrhage |
OMIM:180200 |
Alg12-Cdg |
|
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Abn... |
ORPHA:79324 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Hypopigmentation of hair, Inguinal hernia, Limitation of joint mobility, Ocular albinism, Iris hy... |
ORPHA:2719 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Prolonged prothrombin time |
ORPHA:88618 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Thrombocytosis, Prolonged prothrombin time, Decreased circulating IgG level, Decreased circulatin... |
OMIM:212065 |
Granulomatosis With Polyangiitis |
|
Retinal hemorrhage, Localized pulmonary hemorrhage, Diffuse alveolar hemorrhage |
OMIM:608710 |
Cockayne Syndrome |
|
Neurogenic bladder, Diabetes mellitus, Renal insufficiency, Urinary incontinence, Unilateral rena... |
ORPHA:191 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Retinal hemorrhage, Hypertension, Tachycardia, Bradycardia |
OMIM:614653 |
Pierson Syndrome |
|
Diffuse mesangial sclerosis, Proteinuria, Retinal hemorrhage, Stage 5 chronic kidney disease, Hyp... |
OMIM:609049 |
Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Abnormal circulating apolipoprotein concentration, Subretinal pigment epithelium hemorrhage |
ORPHA:357074 |
Degcags Syndrome |
|
Osteopenia, Abnormal eyebrow morphology, Hypopigmentation of hair, Small for gestational age, Cra... |
OMIM:619488 |
Incontinentia Pigmenti |
|
Telangiectasia of the skin, Congestive heart failure, Retinal hemorrhage, Cerebral ischemia, Pulm... |
ORPHA:464 |
Autosomal Recessive Faciodigitogenital Syndrome |
|
Dry hair, Hypopigmentation of hair, Widow's peak, Joint hyperflexibility, Coarse hair |
ORPHA:1974 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Intraventricular hemorrhage, Prolonged prothrombin time |
OMIM:619055 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Prolonged prothrombin time |
OMIM:618329 |
Tyrosinemia, Type I |
|
Gastrointestinal hemorrhage, Splenomegaly, Melena, Prolonged prothrombin time, Anemia |
OMIM:276700 |
Yellow Fever |
|
Abnormal bleeding, Neutrophilia, Excessive bleeding after a venipuncture, Hematemesis, Leukocytos... |
ORPHA:99829 |
Alström Syndrome |
|
Decreased response to growth hormone stimulation test, Urinary incontinence, Elevated circulating... |
ORPHA:64 |
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To |
|
Prolonged prothrombin time |
OMIM:311250 |
Prader-Willi Syndrome Due To Translocation |
|
Hypopigmentation of hair, Obesity, Stellate iris, Hypopigmentation of the skin, Hyperpigmentation... |
ORPHA:177907 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Hepatosplenomegaly, Decreased circulating antibod... |
ORPHA:247598 |
Abetalipoproteinemia |
|
Abnormal bleeding, Reticulocytosis, Acanthocytosis, Prolonged prothrombin time, Anemia |
ORPHA:14 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Splenomegaly, Prolonged prothrombin time, Polycythemia |
ORPHA:309854 |
Isolated Biliary Atresia |
|
Splenomegaly, Prolonged prothrombin time |
ORPHA:30391 |
Pmm2-Cdg |
|
Pericarditis, Angina pectoris, Hypogonadotropic hypogonadism, Elevated circulating growth hormone... |
ORPHA:79318 |
Congenital Disorder Of Glycosylation, Type It |
|
Prolonged prothrombin time |
OMIM:614921 |
Generalized Arterial Calcification Of Infancy |
|
Hyperphosphaturia, Transient ischemic attack, Adrenal calcification, Retinal hemorrhage, Nephroca... |
ORPHA:51608 |
Vici Syndrome |
|
Hypopigmentation of hair, Albinism, Ocular albinism, Failure to thrive, Hypopigmentation of the skin |
OMIM:242840 |
Trichinellosis |
|
Retinal hemorrhage |
ORPHA:863 |
Incontinentia Pigmenti |
|
Retinal hemorrhage |
OMIM:308300 |
Acute Liver Failure |
|
Abnormal bleeding, Gastrointestinal hemorrhage, Intracranial hemorrhage, Prolonged prothrombin ti... |
ORPHA:90062 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Microcytic anemia, Thrombocytopenia, Splenomegaly, Prolonged prothrombin time, Bleeding with mino... |
OMIM:619525 |
Primary Sclerosing Cholangitis |
|
Abnormal eosinophil morphology, Splenomegaly, Hepatosplenomegaly, Polyclonal elevation of IgM, Pr... |
ORPHA:171 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Splenomegaly, Prolonged prothrombin time |
ORPHA:404454 |
Smith-Lemli-Opitz Syndrome |
|
Abnormal eyelash morphology, Hypopigmentation of hair, Abnormal dental enamel morphology, Congeni... |
ORPHA:818 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Elevated circulating creatine kinase concentration, Cerebral hemorrhage, Retinal hemorrhage, Isch... |
OMIM:175780 |
Sympathetic Ophthalmia |
|
Retinal hemorrhage |
ORPHA:79098 |
Leukodystrophy, Hypomyelinating, 25 |
|
|
OMIM:620243 |